#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
ECSIT	51295	broad.mit.edu	37	19	11617043	11617043	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:11617043C>T	ENST00000270517.7	-	8	1387	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	ECSIT_ENST00000591104.1_3'UTR|CTC-398G3.6_ENST00000585656.1_5'Flank|ZNF653_ENST00000593191.1_5'Flank|ZNF653_ENST00000293771.5_5'Flank|ECSIT_ENST00000417981.2_Missense_Mutation_p.E204K|ECSIT_ENST00000252440.7_3'UTR|ECSIT_ENST00000591352.1_5'Flank|ECSIT_ENST00000588998.1_3'UTR	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN	ECSIT signalling integrator	418					BMP signaling pathway (GO:0030509)|innate immune response (GO:0045087)|mesoderm formation (GO:0001707)|oxidation-reduction process (GO:0055114)|regulation of oxidoreductase activity (GO:0051341)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	oxidoreductase activity, acting on NAD(P)H (GO:0016651)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						TCGTCTTCTTCCTGGTGGTCC	0.701																																						ENST00000270517.7																			0				kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	11						c.(1252-1254)Gaa>Aaa		ECSIT signalling integrator							41.0	42.0	41.0					19																	11617043		2166	4241	6407	SO:0001583	missense	51295				innate immune response|regulation of oxidoreductase activity	mitochondrion	oxidoreductase activity, acting on NADH or NADPH|protein binding	g.chr19:11617043C>T	BC005119	CCDS12262.1, CCDS45979.1, CCDS45980.1, CCDS59353.1	19p13.2	2013-05-24	2013-05-24			ENSG00000130159		"""Mitochondrial respiratory chain complex assembly factors"""	29548	protein-coding gene	gene with protein product	"""signaling intermediate in Toll pathway evolutionarily conserved ortholog (mouse)"""	608388	"""ECSIT homolog (Drosophila)"""			10465784, 22982022	Standard	NM_001142464		Approved	SITPEC	uc002msb.3	Q9BQ95		ENST00000270517.7:c.1252G>A	19.37:g.11617043C>T	ENSP00000270517:p.Glu418Lys					ECSIT_ENST00000417981.2_Missense_Mutation_p.E204K|ECSIT_ENST00000588998.1_3'UTR|ECSIT_ENST00000252440.7_3'UTR|ECSIT_ENST00000591104.1_3'UTR	p.E418K	NM_016581.4	NP_057665.2	Q9BQ95	ECSIT_HUMAN			8	1387	-			418					E9PAN9|K7EMM0|Q96HQ7|Q9NYI1	Missense_Mutation	SNP	ENST00000270517.7	37	c.1252G>A	CCDS12262.1	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791906	0.70452	.	.	ENSG00000130159	ENST00000270517;ENST00000417981	T;T	0.31769	1.48;1.49	5.08	5.08	0.68730	.	0.560636	0.18819	N	0.130299	T	0.28366	0.0701	M	0.63428	1.95	0.80722	D	1	B;P	0.34522	0.403;0.455	B;B	0.31337	0.128;0.111	T	0.04255	-1.0965	10	0.09338	T	0.73	-7.5581	13.8252	0.63346	0.0:1.0:0.0:0.0	.	204;418	E9PAN9;Q9BQ95	.;ECSIT_HUMAN	K	418;204	ENSP00000270517:E418K;ENSP00000412712:E204K	ENSP00000270517:E418K	E	-	1	0	ECSIT	11478043	0.004000	0.15560	0.055000	0.19348	0.003000	0.03518	0.347000	0.20014	2.650000	0.89964	0.585000	0.79938	GAA		0.701	ECSIT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442603.2	NM_016581		28	77	0	0	0	1	0	28	77				
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T	rs200672669	byFrequency	TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:195515449A>T	ENST00000463781.3	-	2	3461	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	425	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587																																						ENST00000463781.3																			2	Substitution - Missense(2)	p.V1001A(1)|p.V1001E(1)	prostate(1)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(3001-3003)gTa>gAa		mucin 4, cell surface associated							45.0	36.0	39.0					3																	195515449		2193	4257	6450	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515449A>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3002T>A	3.37:g.195515449A>T	ENSP00000417498:p.Val1001Glu					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000349607.4_Intron	p.V1001E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3461	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1006			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3002T>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	A	7.806	0.714656	0.15306	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37752	1.19;1.18	1.24	-2.48	0.06423	.	.	.	.	.	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.01281	0.0	T	0.24261	-1.0165	8	.	.	.	.	2.7997	0.05411	0.2821:0.0:0.4902:0.2277	.	1001	E7ESK3	.	E	1001	ENSP00000417498:V1001E;ENSP00000420243:V1001E	.	V	-	2	0	MUC4	196999844	.	.	0.000000	0.03702	0.127000	0.20565	.	.	-0.712000	0.04988	0.055000	0.15244	GTA		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		4	16	0	0	0	1	0	4	16				
BRIX1	55299	broad.mit.edu	37	5	34923315	34923315	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:34923315T>G	ENST00000336767.5	+	8	1002	c.639T>G	c.(637-639)aaT>aaG	p.N213K	BRIX1_ENST00000506023.1_3'UTR	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN	BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)	213	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				ribosome biogenesis (GO:0042254)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|large_intestine(2)|lung(1)	4						TTTTGGATAATAGGATATGGT	0.323																																						ENST00000336767.5																			0				central_nervous_system(1)|large_intestine(2)|lung(1)	4						c.(637-639)aaT>aaG		BRX1, biogenesis of ribosomes, homolog (S. cerevisiae)							124.0	124.0	124.0					5																	34923315		2203	4300	6503	SO:0001583	missense	55299				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr5:34923315T>G		CCDS34143.1	5p13.2	2009-09-25	2009-09-25	2009-09-25	ENSG00000113460	ENSG00000113460			24170	protein-coding gene	gene with protein product			"""brix domain containing 2"""	BXDC2		12477932	Standard	NM_018321		Approved	BRIX, FLJ11100	uc003jja.3	Q8TDN6	OTTHUMG00000162021	ENST00000336767.5:c.639T>G	5.37:g.34923315T>G	ENSP00000338862:p.Asn213Lys					BRIX1_ENST00000506023.1_3'UTR	p.N213K	NM_018321.3	NP_060791.3	Q8TDN6	BRX1_HUMAN			8	1002	+			213			Brix.		A8K0P5|Q3ZTT4|Q8N453|Q96DH1	Missense_Mutation	SNP	ENST00000336767.5	37	c.639T>G	CCDS34143.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.944111	0.53079	.	.	ENSG00000113460	ENST00000336767	T	0.22336	1.96	5.81	-4.99	0.03010	Brix domain (3);Anticodon-binding (1);	0.132026	0.64402	D	0.000002	T	0.20618	0.0496	M	0.76574	2.34	0.40312	D	0.978727	B	0.24092	0.097	B	0.30105	0.111	T	0.04551	-1.0943	10	0.51188	T	0.08	-22.5438	8.7007	0.34323	0.0912:0.5393:0.0931:0.2764	.	213	Q8TDN6	BRX1_HUMAN	K	213	ENSP00000338862:N213K	ENSP00000338862:N213K	N	+	3	2	BRIX1	34959072	0.985000	0.35326	0.952000	0.39060	0.987000	0.75469	0.236000	0.17967	-0.644000	0.05465	-0.353000	0.07706	AAT		0.323	BRIX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366826.2	NM_018321		4	46	0	0	0	1	0	4	46				
CCDC88B	283234	broad.mit.edu	37	11	64120307	64120307	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:64120307C>T	ENST00000356786.5	+	20	3492	c.3448C>T	c.(3448-3450)Cgg>Tgg	p.R1150W	CCDC88B_ENST00000359902.2_Missense_Mutation_p.R302W|CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1150						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGATGGGCATCGGCAGCGGGG	0.692																																						ENST00000356786.5																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(3448-3450)Cgg>Tgg		coiled-coil domain containing 88B							18.0	22.0	21.0					11																	64120307		2196	4295	6491	SO:0001583	missense	283234				microtubule cytoskeleton organization	cytoplasm	microtubule binding	g.chr11:64120307C>T	AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3448C>T	11.37:g.64120307C>T	ENSP00000349238:p.Arg1150Trp					CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.R302W|CCDC88B_ENST00000463837.1_3'UTR	p.R1150W	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN			20	3492	+			1150					A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	ENST00000356786.5	37	c.3448C>T	CCDS8072.2	.	.	.	.	.	.	.	.	.	.	c	21.7	4.188498	0.78789	.	.	ENSG00000168071	ENST00000377638;ENST00000356786;ENST00000359902	T;T	0.49139	1.8;0.79	3.95	3.02	0.34903	.	.	.	.	.	T	0.59238	0.2179	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.936;0.984;0.936	T	0.59847	-0.7377	9	0.72032	D	0.01	.	9.1103	0.36723	0.2173:0.7827:0.0:0.0	.	1150;286;1150	B2RTU8;A6NC98-5;A6NC98	.;.;CC88B_HUMAN	W	1032;1150;302	ENSP00000349238:R1150W;ENSP00000352974:R302W	ENSP00000349238:R1150W	R	+	1	2	CCDC88B	63876883	0.000000	0.05858	0.982000	0.44146	0.914000	0.54420	0.054000	0.14205	0.973000	0.38340	0.462000	0.41574	CGG		0.692	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104845.1	NM_032251		5	27	0	0	0	1	0	5	27				
MMP16	4325	broad.mit.edu	37	8	89058940	89058940	+	Silent	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr8:89058940C>A	ENST00000286614.6	-	9	1727	c.1446G>T	c.(1444-1446)ggG>ggT	p.G482G		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	482					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	ATTCAGGGATCCCTTTCCAGA	0.378																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(1444-1446)ggG>ggT		matrix metallopeptidase 16 (membrane-inserted)							174.0	162.0	166.0					8																	89058940		2203	4300	6503	SO:0001819	synonymous_variant	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89058940C>A	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.1446G>T	8.37:g.89058940C>A							p.G482G	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			9	1727	-			482			Hemopexin-like 3.		B2RAN7|Q14824|Q52H48	Silent	SNP	ENST00000286614.6	37	c.1446G>T	CCDS6246.1																																																																																				0.378	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		18	37	1	0	3.99206e-14	1	4.67287e-14	18	37				
ENC1	8507	broad.mit.edu	37	5	73931269	73931269	+	Silent	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:73931269G>T	ENST00000302351.4	-	2	2172	c.1042C>A	c.(1042-1044)Cgg>Agg	p.R348R	ENC1_ENST00000537006.1_Silent_p.R348R|ENC1_ENST00000510316.1_Silent_p.R275R	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	348					multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TCAGACCCCCGCCCCCCAGTA	0.532																																						ENST00000302351.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20						c.(1042-1044)Cgg>Agg		ectodermal-neural cortex 1 (with BTB domain)							88.0	97.0	94.0					5																	73931269		2203	4300	6503	SO:0001819	synonymous_variant	8507				nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding	g.chr5:73931269G>T	AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.1042C>A	5.37:g.73931269G>T						ENC1_ENST00000537006.1_Silent_p.R348R|ENC1_ENST00000510316.1_Silent_p.R275R	p.R348R	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)	2	2172	-		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)	348					B4DHJ1|E9PFU0|O75464|Q9UPG9	Silent	SNP	ENST00000302351.4	37	c.1042C>A	CCDS4021.1																																																																																				0.532	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219862.2	NM_003633		45	56	1	0	1.23713e-20	1	1.5312e-20	45	56				
SRCAP	10847	broad.mit.edu	37	16	30735384	30735384	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:30735384C>T	ENST00000262518.4	+	25	5024	c.4639C>T	c.(4639-4641)Cct>Tct	p.P1547S	SRCAP_ENST00000344771.4_Missense_Mutation_p.P1389S|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1485S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1547	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCATGCTCACCTGTCCTGGT	0.572																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(4639-4641)Cct>Tct		Snf2-related CREBBP activator protein							71.0	57.0	62.0					16																	30735384		2197	4300	6497	SO:0001583	missense	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30735384C>T	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.4639C>T	16.37:g.30735384C>T	ENSP00000262518:p.Pro1547Ser					SRCAP_ENST00000395059.2_Missense_Mutation_p.P1485S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P1389S	p.P1547S	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	5024	+			1547			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	c.4639C>T	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137511	0.37728	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.95307	-3.53;-3.43;-3.67	5.65	3.59	0.41128	.	0.118257	0.38897	N	0.001521	D	0.88145	0.6358	N	0.19112	0.55	0.29869	N	0.82701	B;B;B	0.30851	0.297;0.093;0.056	B;B;B	0.31751	0.135;0.047;0.012	D	0.84592	0.0667	10	0.48119	T	0.1	-13.8871	9.0993	0.36658	0.0:0.77:0.1482:0.0818	.	1389;1485;1547	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	S	1547;1485;1389	ENSP00000262518:P1547S;ENSP00000378499:P1485S;ENSP00000343042:P1389S	ENSP00000262518:P1547S	P	+	1	0	SRCAP	30642885	0.121000	0.22262	1.000000	0.80357	0.897000	0.52465	0.565000	0.23578	1.395000	0.46643	0.460000	0.39030	CCT		0.572	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		12	49	0	0	0	1	0	12	49				
NPDC1	56654	broad.mit.edu	37	9	139934263	139934263	+	Silent	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:139934263C>T	ENST00000371601.4	-	9	1152	c.939G>A	c.(937-939)gcG>gcA	p.A313A	NPDC1_ENST00000488145.1_5'Flank|NPDC1_ENST00000371600.3_Silent_p.A391A|RP11-229P13.20_ENST00000457302.2_lincRNA	NM_015392.3	NP_056207.3	Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	313						integral component of membrane (GO:0016021)				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CCGGCAGGGGCGCGGACAGTG	0.711																																						ENST00000371600.3																			0				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5						c.(1171-1173)gcG>gcA		neural proliferation, differentiation and control, 1							33.0	37.0	36.0					9																	139934263		2194	4292	6486	SO:0001819	synonymous_variant	56654					integral to membrane		g.chr9:139934263C>T	AF285836	CCDS7024.1	9q34.3	2008-07-21			ENSG00000107281	ENSG00000107281			7899	protein-coding gene	gene with protein product		605798				11245976	Standard	NM_015392		Approved	DKFZp586J0523, CAB-, CAB1	uc004ckt.2	Q9NQX5	OTTHUMG00000020956	ENST00000371601.4:c.939G>A	9.37:g.139934263C>T						NPDC1_ENST00000371601.4_Silent_p.A313A	p.A391A			Q9NQX5	NPDC1_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)	8	1845	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	313					Q5SPY8|Q9BTD6|Q9BXT3|Q9NQS2|Q9Y434	Silent	SNP	ENST00000371601.4	37	c.1173G>A	CCDS7024.1																																																																																				0.711	NPDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055182.1	NM_015392		11	27	0	0	0	1	0	11	27				
STX1A	6804	broad.mit.edu	37	7	73117273	73117273	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr7:73117273C>T	ENST00000222812.3	-	8	606	c.580G>A	c.(580-582)Gag>Aag	p.E194K	WBSCR22_ENST00000423166.2_Intron|STX1A_ENST00000395155.3_Missense_Mutation_p.E194K|STX1A_ENST00000484736.1_5'Flank|STX1A_ENST00000395154.3_Missense_Mutation_p.E194K|STX1A_ENST00000395156.3_Missense_Mutation_p.E194K	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	194	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)	p.E194K(1)		large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTCTCAATCTCGCTCAGAGCC	0.607																																						ENST00000222812.3																			1	Substitution - Missense(1)	p.E194K(1)	large_intestine(1)	large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(580-582)Gag>Aag		syntaxin 1A (brain)							117.0	82.0	94.0					7																	73117273		2203	4300	6503	SO:0001583	missense	6804				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	g.chr7:73117273C>T		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.580G>A	7.37:g.73117273C>T	ENSP00000222812:p.Glu194Lys					STX1A_ENST00000395156.3_Missense_Mutation_p.E194K|STX1A_ENST00000395154.3_Missense_Mutation_p.E194K|STX1A_ENST00000395155.3_Missense_Mutation_p.E194K|WBSCR22_ENST00000423166.2_Intron	p.E194K	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN			8	606	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	194			t-SNARE coiled-coil homology.		O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	Missense_Mutation	SNP	ENST00000222812.3	37	c.580G>A	CCDS34655.1	.	.	.	.	.	.	.	.	.	.	C	36	5.809292	0.96975	.	.	ENSG00000106089	ENST00000428377;ENST00000222812;ENST00000395156;ENST00000395154;ENST00000395155	T;T;T;T	0.24538	1.85;1.85;1.85;1.85	5.41	5.41	0.78517	t-SNARE (1);Target SNARE coiled-coil domain (2);	0.000000	0.85682	D	0.000000	T	0.62134	0.2403	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.79108	0.967;0.992;0.878	T	0.71606	-0.4542	10	0.56958	D	0.05	-40.4583	16.6944	0.85330	0.0:1.0:0.0:0.0	.	194;194;194	Q7Z5K3;Q16623-3;Q16623	.;.;STX1A_HUMAN	K	103;194;194;194;194	ENSP00000222812:E194K;ENSP00000378585:E194K;ENSP00000378583:E194K;ENSP00000378584:E194K	ENSP00000222812:E194K	E	-	1	0	STX1A	72755209	1.000000	0.71417	0.996000	0.52242	0.873000	0.50193	7.487000	0.81328	2.551000	0.86045	0.561000	0.74099	GAG		0.607	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		18	57	0	0	0	1	0	18	57				
OR2H2	7932	broad.mit.edu	37	6	29556329	29556329	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr6:29556329T>G	ENST00000383640.2	+	1	647	c.608T>G	c.(607-609)tTc>tGc	p.F203C	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	203					defense response (GO:0006952)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|mating (GO:0007618)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						GCCAGTGTCTTCATCTTGGTT	0.512																																						ENST00000383640.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						c.(607-609)tTc>tGc		olfactory receptor, family 2, subfamily H, member 2							158.0	138.0	145.0					6																	29556329		1511	2708	4219	SO:0001583	missense	7932				defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29556329T>G		CCDS34365.1	6p22.2-p21.31	2012-08-09				ENSG00000204657		"""GPCR / Class A : Olfactory receptors"""	8253	protein-coding gene	gene with protein product		600578					Standard	XM_005249407		Approved	hs6M1-12	uc003nmr.1	O95918		ENST00000383640.2:c.608T>G	6.37:g.29556329T>G	ENSP00000373136:p.Phe203Cys					GABBR1_ENST00000355973.3_Intron	p.F203C	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN			1	647	+			203					Q15062|Q2M1Y3|Q5STL8|Q5SUK1|Q6IFN7|Q6NTB7|Q96R14	Missense_Mutation	SNP	ENST00000383640.2	37	c.608T>G	CCDS34365.1	.	.	.	.	.	.	.	.	.	.	T	16.86	3.239386	0.58995	.	.	ENSG00000204657	ENST00000383640	T	0.39592	1.07	4.24	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.957046	0.08540	N	0.930707	T	0.36826	0.0981	L	0.58925	1.835	0.28085	N	0.932021	P	0.51791	0.948	P	0.53450	0.726	T	0.28202	-1.0051	10	0.72032	D	0.01	.	7.3862	0.26884	0.0:0.1012:0.0:0.8988	.	203	O95918	OR2H2_HUMAN	C	203	ENSP00000373136:F203C	ENSP00000373136:F203C	F	+	2	0	OR2H2	29664308	0.000000	0.05858	0.477000	0.27303	0.955000	0.61496	0.824000	0.27379	1.772000	0.52199	0.477000	0.44152	TTC		0.512	OR2H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076057.2			47	115	0	0	0	1	0	47	115				
LILRB5	10990	broad.mit.edu	37	19	54754843	54754843	+	Intron	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:54754843A>G	ENST00000316219.5	-	13	1734				LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|CTD-2337J16.1_ENST00000595133.1_lincRNA|LILRB5_ENST00000450632.1_Missense_Mutation_p.S598P	NM_001081442.1|NM_006840.3	NP_001074911.1|NP_006831.1	O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5						cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)	integral component of membrane (GO:0016021)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607																																						ENST00000450632.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(1792-1794)Tcc>Ccc		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5							43.0	42.0	42.0					19																	54754843		2191	4270	6461	SO:0001627	intron_variant	10990				cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	g.chr19:54754843A>G	AF025534	CCDS12885.1, CCDS42611.1, CCDS46176.1	19q13.4	2013-01-11			ENSG00000105609	ENSG00000105609		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6609	protein-coding gene	gene with protein product		604814				9548455	Standard	NM_006840		Approved	LIR-8, LIR8, CD85c	uc002qey.3	O75023	OTTHUMG00000066636	ENST00000316219.5:c.1627-47T>C	19.37:g.54754843A>G						LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron	p.S598P			O75023	LIRB5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	13	1869	-	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)		423					Q8N760	Missense_Mutation	SNP	ENST00000316219.5	37	c.1792T>C	CCDS12885.1	.	.	.	.	.	.	.	.	.	.	A	10.02	1.237390	0.22711	.	.	ENSG00000105609	ENST00000450632	T	0.00497	6.98	1.74	-0.656	0.11436	.	.	.	.	.	T	0.00328	0.0010	.	.	.	0.09310	N	1	B	0.24576	0.106	B	0.17433	0.018	T	0.45702	-0.9243	8	0.87932	D	0	.	1.6956	0.02861	0.475:0.0:0.2022:0.3228	.	598	C9JMK7	.	P	598	ENSP00000414225:S598P	ENSP00000414225:S598P	S	-	1	0	LILRB5	59446655	0.000000	0.05858	0.043000	0.18650	0.608000	0.37181	-0.873000	0.04214	-0.256000	0.09473	0.332000	0.21555	TCC		0.607	LILRB5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000142877.2			5	67	0	0	0	1	0	5	67				
NIPBL	25836	broad.mit.edu	37	5	37064695	37064695	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:37064695G>C	ENST00000282516.8	+	47	8615	c.8116G>C	c.(8116-8118)Gac>Cac	p.D2706H		NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2706					brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGAAAGTGTTGACGTCATGGA	0.438																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128						c.(8116-8118)Gac>Cac		Nipped-B homolog (Drosophila)							157.0	146.0	150.0					5																	37064695		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37064695G>C	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.8116G>C	5.37:g.37064695G>C	ENSP00000282516:p.Asp2706His						p.D2706H	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		47	8615	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2706					Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.8116G>C	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457703	0.43634	.	.	ENSG00000164190	ENST00000282516	D	0.94000	-3.33	5.84	4.97	0.65823	.	0.116409	0.56097	D	0.000025	D	0.91492	0.7314	N	0.19112	0.55	0.80722	D	1	D	0.61080	0.989	P	0.53809	0.735	D	0.92372	0.5906	10	0.56958	D	0.05	-9.8321	14.975	0.71264	0.0682:0.0:0.9318:0.0	.	2706	Q6KC79	NIPBL_HUMAN	H	2706	ENSP00000282516:D2706H	ENSP00000282516:D2706H	D	+	1	0	NIPBL	37100452	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	9.476000	0.97823	1.480000	0.48289	-0.140000	0.14226	GAC		0.438	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		54	120	0	0	0	1	0	54	120				
TAS1R2	80834	broad.mit.edu	37	1	19181360	19181360	+	Missense_Mutation	SNP	G	G	A	rs145050419		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:19181360G>A	ENST00000375371.3	-	3	625	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	202					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)	p.R202C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CAGTTCCAGCGGAAGTGCAGC	0.642																																						ENST00000375371.3																			1	Substitution - Missense(1)	p.R202C(1)	endometrium(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(604-606)Cgc>Tgc		taste receptor, type 1, member 2	Aspartame(DB00168)	G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	39.0	37.0	38.0		604	-3.2	0.0	1	dbSNP_134	38	0,8600		0,0,4300	no	missense	TAS1R2	NM_152232.2	180	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging	202/840	19181360	2,13004	2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181360G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.604C>T	1.37:g.19181360G>A	ENSP00000364520:p.Arg202Cys					RP13-279N23.2_ENST00000494072.3_3'UTR	p.R202C	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	3	625	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	202					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.604C>T	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	15.10	2.733753	0.48939	4.54E-4	0.0	ENSG00000179002	ENST00000375371	D	0.86562	-2.14	4.99	-3.25	0.05079	Extracellular ligand-binding receptor (1);	1.554330	0.03824	N	0.268002	D	0.86793	0.6018	L	0.38175	1.15	0.21147	N	0.999776	D	0.71674	0.998	P	0.54210	0.745	T	0.78460	-0.2195	10	0.56958	D	0.05	.	11.3649	0.49666	0.0:0.5336:0.2609:0.2055	.	202	Q8TE23	TS1R2_HUMAN	C	202	ENSP00000364520:R202C	ENSP00000364520:R202C	R	-	1	0	TAS1R2	19053947	0.000000	0.05858	0.001000	0.08648	0.207000	0.24258	-1.236000	0.02925	-0.301000	0.08882	-0.305000	0.09177	CGC		0.642	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			15	26	0	0	0	1	0	15	26				
FN3K	64122	broad.mit.edu	37	17	80696461	80696461	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:80696461C>T	ENST00000300784.7	+	2	300	c.238C>T	c.(238-240)Ccg>Tcg	p.P80S		NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	fructosamine 3 kinase	80					epithelial cell differentiation (GO:0030855)|fructoselysine metabolic process (GO:0030393)		fructosamine-3-kinase activity (GO:0030387)			central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CATCGACCTGCCGGGAGGTGG	0.627																																					Melanoma(10;391 597 14592 32548 32749)	ENST00000300784.7																			0				central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1)	4						c.(238-240)Ccg>Tcg		fructosamine 3 kinase							68.0	69.0	69.0					17																	80696461		2203	4300	6503	SO:0001583	missense	64122				fructoselysine metabolic process		fructosamine-3-kinase activity	g.chr17:80696461C>T	AJ404615	CCDS11818.1	17q25	2008-02-05				ENSG00000167363			24822	protein-coding gene	gene with protein product		608425				11522682, 14641062	Standard	NM_022158		Approved		uc010wvs.1	Q9H479		ENST00000300784.7:c.238C>T	17.37:g.80696461C>T	ENSP00000300784:p.Pro80Ser						p.P80S	NM_022158.3	NP_071441.1	Q9H479	FN3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		2	300	+	Breast(20;0.000523)|all_neural(118;0.0952)		80						Missense_Mutation	SNP	ENST00000300784.7	37	c.238C>T	CCDS11818.1	.	.	.	.	.	.	.	.	.	.	C	9.588	1.125469	0.20959	.	.	ENSG00000167363	ENST00000300784;ENST00000457624;ENST00000536165	T	0.49720	0.77	4.93	3.93	0.45458	Protein kinase-like domain (1);	0.179932	0.48767	D	0.000163	T	0.44201	0.1282	N	0.20401	0.57	0.24630	N	0.993622	B;P	0.51240	0.186;0.943	B;P	0.55391	0.158;0.775	T	0.23440	-1.0188	9	.	.	.	-15.5022	11.8629	0.52476	0.0:0.9072:0.0:0.0928	.	80;35	Q9H479;B3KNR9	FN3K_HUMAN;.	S	80;80;35	ENSP00000300784:P80S	.	P	+	1	0	FN3K	78289750	0.993000	0.37304	0.075000	0.20258	0.061000	0.15899	3.353000	0.52247	2.442000	0.82660	0.585000	0.79938	CCG		0.627	FN3K-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439229.1	NM_022158		25	66	0	0	0	1	0	25	66				
SRP72	6731	broad.mit.edu	37	4	57333850	57333850	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr4:57333850G>A	ENST00000342756.5	+	1	770	c.49G>A	c.(49-51)Gaa>Aaa	p.E17K	SRP72_ENST00000510663.1_Missense_Mutation_p.E17K|SRP72_ENST00000504757.1_Missense_Mutation_p.E17K	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	17					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GCTGTGGAGTGAAGTGAACCG	0.677																																						ENST00000342756.5																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22						c.(49-51)Gaa>Aaa		signal recognition particle 72kDa							23.0	24.0	24.0					4																	57333850		2203	4300	6503	SO:0001583	missense	6731				response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding	g.chr4:57333850G>A	AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.49G>A	4.37:g.57333850G>A	ENSP00000342181:p.Glu17Lys					SRP72_ENST00000510663.1_Missense_Mutation_p.E17K|SRP72_ENST00000504757.1_Missense_Mutation_p.E17K	p.E17K	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN			1	770	+	Glioma(25;0.08)|all_neural(26;0.101)		17					G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	ENST00000342756.5	37	c.49G>A	CCDS3506.1	.	.	.	.	.	.	.	.	.	.	G	36	5.837622	0.97009	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663	T;T	0.36520	1.25;1.25	5.55	5.55	0.83447	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.136301	0.53938	D	0.000060	T	0.61763	0.2373	M	0.84326	2.69	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.961	T	0.60500	-0.7251	10	0.30078	T	0.28	.	15.0181	0.71605	0.0:0.0:1.0:0.0	.	17;17	G5E9Z8;O76094	.;SRP72_HUMAN	K	17;23;17	ENSP00000342181:E17K;ENSP00000424576:E17K	ENSP00000342181:E17K	E	+	1	0	SRP72	57028607	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.046000	0.89438	2.590000	0.87494	0.655000	0.94253	GAA		0.677	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250782.7			9	40	0	0	0	1	0	9	40				
TLR3	7098	broad.mit.edu	37	4	187004364	187004364	+	Silent	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr4:187004364G>A	ENST00000296795.3	+	4	1628	c.1524G>A	c.(1522-1524)ttG>ttA	p.L508L	TLR3_ENST00000504367.1_Silent_p.L231L	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	508					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTCGTAACTTGACCATTCTGG	0.448																																						ENST00000296795.2																			0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(1522-1524)ttG>ttA		toll-like receptor 3							103.0	106.0	105.0					4																	187004364		2203	4300	6503	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187004364G>A	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.1524G>A	4.37:g.187004364G>A						TLR3_ENST00000504367.1_Silent_p.L231L	p.L508L	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	1628	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	508					B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.1524G>A	CCDS3846.1																																																																																				0.448	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			29	101	0	0	0	1	0	29	101				
EPHA3	2042	broad.mit.edu	37	3	89498523	89498523	+	Splice_Site	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:89498523A>G	ENST00000336596.2	+	14	2720	c.2495A>G	c.(2494-2496)gAt>gGt	p.D832G	EPHA3_ENST00000494014.1_Splice_Site_p.D832G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	832	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCCAATCAGGATGTAAGTATT	0.443										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.e14+1		EPH receptor A3							204.0	187.0	193.0					3																	89498523		2203	4300	6503	SO:0001630	splice_region_variant	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89498523A>G	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.2496+1A>G	3.37:g.89498523A>G		TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Splice_Site_p.D832_splice	p.D832_splice	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	14	2720	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	832			Protein kinase.		Q9H2V3|Q9H2V4	Splice_Site	SNP	ENST00000336596.2	37	c.2496_splice	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.500849	0.85176	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	D;D	0.83250	-1.7;-1.7	5.37	5.37	0.77165	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88317	0.6404	L	0.49126	1.545	0.80722	D	1	D	0.69078	0.997	D	0.87578	0.998	D	0.87631	0.2516	9	.	.	.	.	15.3979	0.74812	1.0:0.0:0.0:0.0	.	832	P29320	EPHA3_HUMAN	G	832	ENSP00000337451:D832G;ENSP00000419190:D832G	.	D	+	2	0	EPHA3	89581213	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.284000	0.95882	2.033000	0.60031	0.533000	0.62120	GAT		0.443	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	Missense_Mutation	7	101	0	0	0	1	0	7	101				
VIL1	7429	broad.mit.edu	37	2	219296613	219296613	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:219296613C>A	ENST00000248444.5	+	11	1224	c.1136C>A	c.(1135-1137)tCc>tAc	p.S379Y	VIL1_ENST00000392114.2_Missense_Mutation_p.S68Y	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	379	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GATGCCACATCCATGCATGTC	0.567																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1135-1137)tCc>tAc		villin 1							103.0	82.0	89.0					2																	219296613		2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219296613C>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1136C>A	2.37:g.219296613C>A	ENSP00000248444:p.Ser379Tyr					VIL1_ENST00000392114.2_Missense_Mutation_p.S68Y	p.S379Y	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	11	1224	+		Renal(207;0.0474)	379			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.1136C>A	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.410725	0.42817	.	.	ENSG00000127831	ENST00000248444;ENST00000392114	T;T	0.31769	1.48;2.57	5.09	5.09	0.68999	.	0.159730	0.42420	D	0.000719	T	0.34832	0.0911	L	0.60455	1.87	0.80722	D	1	P	0.35944	0.529	B	0.35859	0.212	T	0.17806	-1.0357	10	0.45353	T	0.12	-23.4824	18.4787	0.90802	0.0:1.0:0.0:0.0	.	379	P09327	VILI_HUMAN	Y	379;68	ENSP00000248444:S379Y;ENSP00000375962:S68Y	ENSP00000248444:S379Y	S	+	2	0	VIL1	219004857	0.001000	0.12720	0.981000	0.43875	0.672000	0.39443	1.489000	0.35562	2.384000	0.81235	0.462000	0.41574	TCC		0.567	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		25	14	1	0	7.76418e-22	1	9.68919e-22	25	14				
C10orf62	414157	broad.mit.edu	37	10	99349663	99349663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr10:99349663G>A	ENST00000370640.3	+	1	214	c.9G>A	c.(7-9)tgG>tgA	p.W3*	HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	3										endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		TCATGCTGTGGGTTCAGAGAA	0.502																																						ENST00000370640.3																			0				endometrium(2)|kidney(1)|lung(1)	4						c.(7-9)tgG>tgA		chromosome 10 open reading frame 62							98.0	99.0	99.0					10																	99349663		2203	4300	6503	SO:0001587	stop_gained	414157						protein binding	g.chr10:99349663G>A		CCDS31261.1	10q24.2	2012-05-31			ENSG00000203942	ENSG00000203942			23294	protein-coding gene	gene with protein product							Standard	NM_001009997		Approved	bA548K23.1	uc001koa.3	Q5T681	OTTHUMG00000018858	ENST00000370640.3:c.9G>A	10.37:g.99349663G>A	ENSP00000359674:p.Trp3*					PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000370649.3_Intron|HOGA1_ENST00000370647.4_Intron	p.W3*	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)	1	214	+		Colorectal(252;0.162)	3					Q49A70|Q8N3Y6	Nonsense_Mutation	SNP	ENST00000370640.3	37	c.9G>A	CCDS31261.1	.	.	.	.	.	.	.	.	.	.	G	37	6.227917	0.97394	.	.	ENSG00000203942	ENST00000370640	.	.	.	5.37	5.37	0.77165	.	0.000000	0.39834	U	0.001241	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7584	14.6263	0.68624	0.0:0.0:1.0:0.0	.	.	.	.	X	3	.	ENSP00000359674:W3X	W	+	3	0	C10orf62	99339653	0.999000	0.42202	0.975000	0.42487	0.890000	0.51754	4.479000	0.60236	2.506000	0.84524	0.643000	0.83706	TGG		0.502	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049723.1	NM_001009997		32	110	0	0	0	1	0	32	110				
RPL3	6122	broad.mit.edu	37	22	39710705	39710705	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:39710705C>T	ENST00000216146.4	-	6	1008	c.835G>A	c.(835-837)Gag>Aag	p.E279K	RPL3_ENST00000465618.1_5'UTR|SNORD83B_ENST00000386745.1_RNA|RPL3_ENST00000401609.1_Missense_Mutation_p.E227K|SNORD83A_ENST00000386747.1_RNA	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	279					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	TTGTTGATCTCAGTGCGGTGA	0.612																																						ENST00000216146.4																			0				breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(835-837)Gag>Aag		ribosomal protein L3							55.0	47.0	49.0					22																	39710705		2203	4300	6503	SO:0001583	missense	6122				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr22:39710705C>T	AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.835G>A	22.37:g.39710705C>T	ENSP00000346001:p.Glu279Lys					RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Missense_Mutation_p.E227K	p.E279K	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN			6	1008	-	Melanoma(58;0.04)		279					B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	ENST00000216146.4	37	c.835G>A	CCDS13988.1	.	.	.	.	.	.	.	.	.	.	C	35	5.416367	0.96092	.	.	ENSG00000100316	ENST00000401609;ENST00000216146;ENST00000402527	T;T;T	0.45276	0.9;0.9;0.9	4.96	4.96	0.65561	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.78394	0.4276	H	0.97896	4.1	0.80722	D	1	D;D;D;D	0.71674	0.994;0.963;0.998;0.998	D;P;D;D	0.75484	0.938;0.799;0.938;0.986	D	0.87513	0.2441	10	0.87932	D	0	.	18.1961	0.89822	0.0:1.0:0.0:0.0	.	250;227;279;230	Q8TBW1;G5E9G0;P39023;B3KS36	.;.;RL3_HUMAN;.	K	227;279;227	ENSP00000386101:E227K;ENSP00000346001:E279K;ENSP00000385762:E227K	ENSP00000346001:E279K	E	-	1	0	RPL3	38040651	1.000000	0.71417	0.970000	0.41538	0.952000	0.60782	7.662000	0.83803	2.297000	0.77311	0.462000	0.41574	GAG		0.612	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		8	24	0	0	0	1	0	8	24				
ABHD17B	51104	broad.mit.edu	37	9	74489704	74489704	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:74489704T>C	ENST00000333421.6	-	2	404	c.293A>G	c.(292-294)cAt>cGt	p.H98R	ABHD17B_ENST00000377041.2_Missense_Mutation_p.H98R	NM_001025780.1	NP_001020951.1	Q5VST6	AB17B_HUMAN	abhydrolase domain containing 17B	98						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										AGCATTTCCATGTGAGAAGAG	0.363																																						ENST00000333421.6																			0											c.(292-294)cAt>cGt		abhydrolase domain containing 17B							172.0	158.0	163.0					9																	74489704		2203	4300	6503	SO:0001583	missense	51104							g.chr9:74489704T>C	AF151825	CCDS35042.1, CCDS35043.1	9q21.2	2013-03-15	2013-03-15	2013-03-15	ENSG00000107362	ENSG00000107362		"""Abhydrolase domain containing"""	24278	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 77"", ""family with sequence similarity 108, member B1"""	C9orf77, FAM108B1		10810093	Standard	XM_006717134		Approved	CGI-67	uc004ail.3	Q5VST6	OTTHUMG00000020001	ENST00000333421.6:c.293A>G	9.37:g.74489704T>C	ENSP00000330222:p.His98Arg					ABHD17B_ENST00000377041.2_Missense_Mutation_p.H98R	p.H98R	NM_001025780.1	NP_001020951.1					2	404	-								A8KAJ5|Q5VST7|Q86YB6|Q8IY03|Q9Y377	Missense_Mutation	SNP	ENST00000333421.6	37	c.293A>G	CCDS35043.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.478094	0.84747	.	.	ENSG00000107362	ENST00000377041;ENST00000333421	T;T	0.63580	-0.05;-0.05	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.89118	0.6624	H	0.99682	4.7	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.77557	0.99;0.97	D	0.93908	0.7194	10	0.87932	D	0	-10.4347	16.8222	0.85835	0.0:0.0:0.0:1.0	.	98;98	Q5VST6;Q5VST6-2	F108B_HUMAN;.	R	98	ENSP00000366240:H98R;ENSP00000330222:H98R	ENSP00000330222:H98R	H	-	2	0	FAM108B1	73679524	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.371000	0.80710	0.533000	0.62120	CAT		0.363	ABHD17B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052625.1	NM_016014		52	104	0	0	0	1	0	52	104				
PSAT1	29968	broad.mit.edu	37	9	80921300	80921300	+	Silent	SNP	G	G	A	rs200962308		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:80921300G>A	ENST00000376588.3	+	5	536	c.468G>A	c.(466-468)acG>acA	p.T156T	PSAT1_ENST00000347159.2_Silent_p.T156T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	156					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-serine biosynthetic process (GO:0006564)|pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	O-phospho-L-serine:2-oxoglutarate aminotransferase activity (GO:0004648)|pyridoxal phosphate binding (GO:0030170)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						CAAATGAGACGGTGCATGGTG	0.468																																					Colon(34;187 791 10662 18313 37609)	ENST00000376588.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(466-468)acG>acA		phosphoserine aminotransferase 1	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)						364.0	335.0	345.0					9																	80921300		2203	4300	6503	SO:0001819	synonymous_variant	29968				L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	g.chr9:80921300G>A	BC004863	CCDS6659.1, CCDS6660.1	9q21.2	2008-08-11			ENSG00000135069	ENSG00000135069			19129	protein-coding gene	gene with protein product		610936				12633500, 3651428	Standard	NM_058179		Approved	PSA	uc004ala.3	Q9Y617	OTTHUMG00000020066	ENST00000376588.3:c.468G>A	9.37:g.80921300G>A						PSAT1_ENST00000347159.2_Silent_p.T156T	p.T156T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN			5	536	+			156					Q5T7G5|Q5T7G6|Q96AW2|Q9BQ12	Silent	SNP	ENST00000376588.3	37	c.468G>A	CCDS6660.1																																																																																				0.468	PSAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052777.1	NM_021154		151	357	0	0	0	1	0	151	357				
RPL3	6122	broad.mit.edu	37	22	39713611	39713611	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:39713611C>A	ENST00000216146.4	-	3	393	c.220G>T	c.(220-222)Gag>Tag	p.E74*	RPL3_ENST00000465618.1_5'UTR|SNORD43_ENST00000583861.1_RNA|RPL3_ENST00000401609.1_Nonsense_Mutation_p.E22*|SNORD83A_ENST00000386747.1_RNA	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	74					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	GTCACAGCCTCCACCACCTCC	0.512																																						ENST00000216146.4																			0				breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(220-222)Gag>Tag		ribosomal protein L3							110.0	106.0	107.0					22																	39713611		2203	4300	6503	SO:0001587	stop_gained	6122				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr22:39713611C>A	AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.220G>T	22.37:g.39713611C>A	ENSP00000346001:p.Glu74*					RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Nonsense_Mutation_p.E22*	p.E74*	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN			3	393	-	Melanoma(58;0.04)		74					B2RDV9|Q15548|Q5I0G0	Nonsense_Mutation	SNP	ENST00000216146.4	37	c.220G>T	CCDS13988.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	34|34	5.391290|5.391290	0.95988|0.95988	.|.	.|.	ENSG00000100316|ENSG00000100316	ENST00000401609;ENST00000216146;ENST00000402527;ENST00000453303|ENST00000427905	.|.	.|.	.|.	5.2|5.2	5.2|5.2	0.72013|0.72013	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.74831	.|0.3768	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.73953	.|-0.3820	.|3	0.87932|.	D|.	0|.	.|.	18.726|18.726	0.91714|0.91714	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	22;74;22;101|105	.|.	ENSP00000346001:E74X|.	E|G	-|-	1|2	0|0	RPL3|RPL3	38043557|38043557	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.771000|0.771000	0.43674|0.43674	7.372000|7.372000	0.79612|0.79612	2.435000|2.435000	0.82474|0.82474	0.561000|0.561000	0.74099|0.74099	GAG|GGA		0.512	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		56	160	1	0	9.16383e-17	1	1.09821e-16	56	160				
CCDC15	80071	broad.mit.edu	37	11	124857495	124857495	+	Missense_Mutation	SNP	A	A	C	rs113451248	byFrequency	TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:124857495A>C	ENST00000344762.5	+	8	1632	c.1373A>C	c.(1372-1374)cAc>cCc	p.H458P	CCDC15_ENST00000529051.1_Missense_Mutation_p.H458P	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	458						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		CATGTTCTCCACAAAGACCAA	0.418													C|||	6	0.00119808	0.0008	0.0	5008	,	,		19182	0.005		0.0	False		,,,				2504	0.0					ENST00000529051.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23						c.(1372-1374)cAc>cCc		coiled-coil domain containing 15		C	PRO/HIS	5,3679		0,5,1837	109.0	105.0	106.0		1373	-1.4	0.0	11	dbSNP_132	106	0,8170		0,0,4085	yes	missense	CCDC15	NM_025004.2	77	0,5,5922	CC,CA,AA		0.0,0.1357,0.0422	benign	458/952	124857495	5,11849	1842	4085	5927	SO:0001583	missense	80071					centrosome		g.chr11:124857495A>C	BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.1373A>C	11.37:g.124857495A>C	ENSP00000341684:p.His458Pro					CCDC15_ENST00000344762.5_Missense_Mutation_p.H458P	p.H458P			Q0P6D6	CCD15_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)	8	1632	+	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	458					Q9H8U7	Missense_Mutation	SNP	ENST00000344762.5	37	c.1373A>C	CCDS44756.1	5	0.0022893772893772895	0	0.0	0	0.0	5	0.008741258741258742	0	0.0	C	0.007	-1.935858	0.00484	0.001357	0.0	ENSG00000149548	ENST00000529051;ENST00000344762	T;T	0.29142	1.6;1.58	3.32	-1.4	0.08968	.	.	.	.	.	T	0.04272	0.0118	N	0.00841	-1.15	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29882	-0.9997	9	0.02654	T	1	0.0636	3.381	0.07255	0.5595:0.2054:0.1382:0.0969	.	458	Q0P6D6	CCD15_HUMAN	P	458	ENSP00000435403:H458P;ENSP00000341684:H458P	ENSP00000341684:H458P	H	+	2	0	CCDC15	124362705	.	.	0.000000	0.03702	0.085000	0.17905	.	.	-0.576000	0.05974	-0.215000	0.12644	CAC		0.418	CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004		4	141	0	0	0	1	0	4	141				
PACS2	23241	broad.mit.edu	37	14	105821492	105821492	+	Missense_Mutation	SNP	C	C	T	rs377453480		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:105821492C>T	ENST00000325438.8	+	4	905	c.401C>T	c.(400-402)gCg>gTg	p.A134V	PACS2_ENST00000547217.1_Missense_Mutation_p.A104V|PACS2_ENST00000447393.1_Missense_Mutation_p.A134V|PACS2_ENST00000458164.2_Missense_Mutation_p.A134V|PACS2_ENST00000430725.2_Missense_Mutation_p.A67V			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	134					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		ACGCTGGCCGCGGGCTCCATC	0.607																																						ENST00000447393.1																			0				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21						c.(400-402)gCg>gTg		phosphofurin acidic cluster sorting protein 2		C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	65.0	56.0	59.0		401,401	-0.6	0.0	14		59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	PACS2	NM_015197.3,NM_001100913.2	64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	134/890,134/894	105821492	1,13005	2203	4300	6503	SO:0001583	missense	23241				apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion		g.chr14:105821492C>T	AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.401C>T	14.37:g.105821492C>T	ENSP00000321834:p.Ala134Val					PACS2_ENST00000458164.2_Missense_Mutation_p.A134V|PACS2_ENST00000430725.2_Missense_Mutation_p.A67V|PACS2_ENST00000325438.8_Missense_Mutation_p.A134V|PACS2_ENST00000547217.1_Missense_Mutation_p.A104V	p.A134V	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)	4	576	+		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	134					A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Missense_Mutation	SNP	ENST00000325438.8	37	c.401C>T	CCDS32168.1	.	.	.	.	.	.	.	.	.	.	C	0.032	-1.327770	0.01309	0.0	1.16E-4	ENSG00000179364	ENST00000430725;ENST00000325438;ENST00000458164;ENST00000447393;ENST00000547217;ENST00000546915	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	4.62	-0.581	0.11713	.	0.353179	0.25148	N	0.032762	T	0.03651	0.0104	N	0.00841	-1.15	0.09310	N	1	B;B;B;B	0.10296	0.0;0.0;0.001;0.003	B;B;B;B	0.06405	0.0;0.0;0.001;0.002	T	0.43909	-0.9362	10	0.02654	T	1	-0.8441	9.9611	0.41697	0.0:0.4708:0.0:0.5292	.	134;134;134;143	E9PB38;Q86VP3-2;Q86VP3;Q86VP3-3	.;.;PACS2_HUMAN;.	V	67;134;134;134;104;67	ENSP00000393524:A67V;ENSP00000321834:A134V;ENSP00000399732:A134V;ENSP00000393559:A134V;ENSP00000449525:A104V	ENSP00000321834:A134V	A	+	2	0	PACS2	104892537	0.892000	0.30473	0.000000	0.03702	0.516000	0.34256	1.462000	0.35266	-0.172000	0.10779	-1.119000	0.02030	GCG		0.607	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000409209.1	XM_377355		21	58	0	0	0	1	0	21	58				
NBPF8	728841	broad.mit.edu	37	1	144220816	144220816	+	Missense_Mutation	SNP	A	A	G	rs587673408	byFrequency	TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:144220816A>G	ENST00000369373.5	+	2	83	c.83A>G	c.(82-84)gAg>gGg	p.E28G				Q3BBV2	NBPF8_HUMAN	neuroblastoma breakpoint family, member 8	668						cytoplasm (GO:0005737)											GATGAGAAAGAGCCTGAAGTC	0.483													.|||	167	0.0333466	0.1097	0.0115	5008	,	,		50002	0.001		0.006	False		,,,				2504	0.0072					ENST00000369373.5																			0											c.(82-84)gAg>gGg		neuroblastoma breakpoint family, member 8																																				SO:0001583	missense	728841							g.chr1:144220816A>G	AY894572		1q21.1	2014-04-01	2013-04-24	2013-04-24	ENSG00000162825	ENSG00000162825		"""neuroblastoma breakpoint family"""	31990	protein-coding gene	gene with protein product		613998	"""neuroblastoma breakpoint family, member 8, pseudogene"""	NBPF8P		16079250	Standard	NM_001037501		Approved			Q3BBV2	OTTHUMG00000074805	ENST00000369373.5:c.83A>G	1.37:g.144220816A>G	ENSP00000358380:p.Glu28Gly						p.E28G							2	83	+									Missense_Mutation	SNP	ENST00000369373.5	37	c.83A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.213|8.213	0.800676|0.800676	0.16397|0.16397	.|.	.|.	ENSG00000162825|ENSG00000162825	ENST00000369373|ENST00000369365	T|.	0.15603|.	2.41|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.39835|.	0.1093|.	.|.	.|.	.|.	.|.	.|.	.|.	B;B;.;B;B|.	0.23316|.	0.0;0.001;.;0.083;0.002|.	B;B;.;B;B|.	0.34038|.	0.0;0.003;.;0.174;0.011|.	T|.	0.29610|.	-1.0006|.	3|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	434;30;601;376;443|.	Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04|.	.;.;.;.;.|.	G|G	28|3579	ENSP00000358380:E28G|.	.|.	E|S	+|+	2|1	0|0	RP3-377D14.1|RP3-377D14.1	142932173|142932173	0.724000|0.724000	0.28038|0.28038	.|.	.|.	.|.	.|.	0.868000|0.868000	0.27982|0.27982	.|.	.|.	.|.	.|.	GAG|AGC		0.483	NBPF8-204	KNOWN	basic|appris_candidate	protein_coding	protein_coding				5	151	0	0	0	1	0	5	151				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	66	0	0	0	1	0	3	66				
GRK7	131890	broad.mit.edu	37	3	141499650	141499650	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:141499650G>T	ENST00000264952.2	+	2	1184	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	349	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCATCACCCAGAGGGTGAGTG	0.567																																						ENST00000264952.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1045-1047)caG>caT		G protein-coupled receptor kinase 7							36.0	32.0	34.0					3																	141499650		2203	4300	6503	SO:0001583	missense	131890				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr3:141499650G>T		CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.1047G>T	3.37:g.141499650G>T	ENSP00000264952:p.Gln349His						p.Q349H	NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN			2	1184	+			349			Protein kinase.			Missense_Mutation	SNP	ENST00000264952.2	37	c.1047G>T	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.788754	0.70337	.	.	ENSG00000114124	ENST00000264952	T	0.24350	1.86	4.93	4.06	0.47325	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38348	0.1037	L	0.28458	0.855	0.51233	D	0.999912	D	0.89917	1.0	D	0.91635	0.999	T	0.25398	-1.0133	10	0.87932	D	0	-21.6541	13.4876	0.61375	0.0763:0.0:0.9237:0.0	.	349	Q8WTQ7	GRK7_HUMAN	H	349	ENSP00000264952:Q349H	ENSP00000264952:Q349H	Q	+	3	2	GRK7	142982340	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.482000	0.60257	1.066000	0.40716	-0.126000	0.14955	CAG		0.567	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		11	27	1	0	4.68919e-08	1	5.16838e-08	11	27				
PDE4DIP	9659	broad.mit.edu	37	1	144994657	144994657	+	Silent	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:144994657G>T	ENST00000369354.3	-	1	264	c.75C>A	c.(73-75)cgC>cgA	p.R25R	PDE4DIP_ENST00000369356.4_Silent_p.R25R|PDE4DIP_ENST00000369351.3_Silent_p.R25R|PDE4DIP_ENST00000313382.9_Silent_p.R91R|PDE4DIP_ENST00000369347.4_Silent_p.R25R|PDE4DIP_ENST00000369359.4_Silent_p.R162R|PDE4DIP_ENST00000530740.1_Silent_p.R162R|PDE4DIP_ENST00000369348.3_Silent_p.R162R|PDE4DIP_ENST00000369349.3_Silent_p.R25R			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	25			R -> L (in dbSNP:rs1664022).		cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)	p.R25R(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAAGTAGATGCGCAGCTTGA	0.582			T	PDGFRB	MPD																																	ENST00000369359.4				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		1	Substitution - coding silent(1)	p.R25R(1)	ovary(1)	NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(484-486)cgC>cgA		phosphodiesterase 4D interacting protein							177.0	148.0	158.0					1																	144994657		2203	4300	6503	SO:0001819	synonymous_variant	9659				cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	g.chr1:144994657G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.75C>A	1.37:g.144994657G>T						PDE4DIP_ENST00000369356.4_Silent_p.R25R|PDE4DIP_ENST00000530740.1_Silent_p.R162R|PDE4DIP_ENST00000313382.9_Silent_p.R91R|PDE4DIP_ENST00000369347.4_Silent_p.R25R|PDE4DIP_ENST00000369348.3_Silent_p.R162R|PDE4DIP_ENST00000369349.3_Silent_p.R25R|PDE4DIP_ENST00000369351.3_Silent_p.R25R|PDE4DIP_ENST00000369354.3_Silent_p.R25R	p.R162R			Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	4	524	-			25					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Silent	SNP	ENST00000369354.3	37	c.486C>A	CCDS30824.1																																																																																				0.582	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		22	168	1	0	1.10923e-09	1	1.2407e-09	22	168				
CRB1	23418	broad.mit.edu	37	1	197390404	197390404	+	Silent	SNP	C	C	T	rs150894028		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:197390404C>T	ENST00000367400.3	+	6	1581	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	CRB1_ENST00000367399.2_Silent_p.I370I|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000538660.1_Silent_p.I482I|CRB1_ENST00000543483.1_Silent_p.I181I|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000535699.1_Silent_p.I413I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	482					cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGTGTGAAATCGCAACCACAC	0.493																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(1444-1446)atC>atT		crumbs homolog 1 (Drosophila)		C	,	0,4406		0,0,2203	104.0	91.0	95.0		1110,1446	-7.6	0.0	1	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CRB1	NM_001193640.1,NM_201253.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	370/1295,482/1407	197390404	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197390404C>T		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.1446C>T	1.37:g.197390404C>T						CRB1_ENST00000543483.1_Silent_p.I181I|CRB1_ENST00000544212.1_5'UTR|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000538660.1_Silent_p.I482I|CRB1_ENST00000476483.1_3'UTR|CRB1_ENST00000535699.1_Silent_p.I413I|CRB1_ENST00000367399.2_Silent_p.I370I	p.I482I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			6	1581	+			482					A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.1446C>T	CCDS1390.1																																																																																				0.493	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		18	41	0	0	0	1	0	18	41				
PNPLA2	57104	broad.mit.edu	37	11	821849	821849	+	Missense_Mutation	SNP	G	G	A	rs375693983		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:821849G>A	ENST00000336615.4	+	3	611	c.409G>A	c.(409-411)Gag>Aag	p.E137K	AP006621.8_ENST00000528982.1_RNA|AP006621.8_ENST00000532946.1_RNA	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN	patatin-like phospholipase domain containing 2	137	Patatin.				acylglycerol acyl-chain remodeling (GO:0036155)|glycerophospholipid biosynthetic process (GO:0046474)|lipid particle organization (GO:0034389)|lipid storage (GO:0019915)|negative regulation of sequestering of triglyceride (GO:0010891)|phospholipid metabolic process (GO:0006644)|positive regulation of triglyceride catabolic process (GO:0010898)|small molecule metabolic process (GO:0044281)|triglyceride catabolic process (GO:0019433)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)	triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCCAAGGACGAGCTCATCCA	0.617																																						ENST00000336615.4																			0				breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9						c.(409-411)Gag>Aag		patatin-like phospholipase domain containing 2		G	LYS/GLU	0,4406		0,0,2203	70.0	64.0	66.0		409	3.9	0.9	11		66	1,8597	1.2+/-3.3	0,1,4298	no	missense	PNPLA2	NM_020376.3	56	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	137/505	821849	1,13003	2203	4299	6502	SO:0001583	missense	57104				negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity	g.chr11:821849G>A	AJ278475	CCDS7718.1	11p15.5	2014-03-14			ENSG00000177666	ENSG00000177666	3.1.1.3	"""Patatin-like phospholipase domain containing"""	30802	protein-coding gene	gene with protein product		609059				8619474, 16799181, 19029121	Standard	NM_020376		Approved	desnutrin, TTS-2.2, ATGL, FP17548, iPLA2zeta	uc001lrt.3	Q96AD5	OTTHUMG00000133309	ENST00000336615.4:c.409G>A	11.37:g.821849G>A	ENSP00000337701:p.Glu137Lys						p.E137K	NM_020376.3	NP_065109.1	Q96AD5	PLPL2_HUMAN		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	611	+		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	137			Patatin.		O60643|Q5EFF5|Q6XYE5|Q96ET6|Q9NQ61|Q9NQ62	Missense_Mutation	SNP	ENST00000336615.4	37	c.409G>A	CCDS7718.1	.	.	.	.	.	.	.	.	.	.	G	34	5.410791	0.96072	0.0	1.16E-4	ENSG00000177666	ENST00000336615	T	0.79141	-1.24	3.94	3.94	0.45596	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.000000	0.85682	D	0.000000	D	0.88833	0.6544	M	0.84433	2.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91260	0.5036	10	0.87932	D	0	-25.5706	16.1653	0.81750	0.0:0.0:1.0:0.0	.	137	Q96AD5	PLPL2_HUMAN	K	137	ENSP00000337701:E137K	ENSP00000337701:E137K	E	+	1	0	PNPLA2	811849	1.000000	0.71417	0.938000	0.37757	0.958000	0.62258	7.637000	0.83313	2.041000	0.60428	0.561000	0.74099	GAG		0.617	PNPLA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257106.1	NM_020376		32	62	0	0	0	1	0	32	62				
EPPK1	83481	broad.mit.edu	37	8	144943213	144943213	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr8:144943213G>T	ENST00000525985.1	-	2	4280	c.4209C>A	c.(4207-4209)ttC>ttA	p.F1403L				P58107	EPIPL_HUMAN	epiplakin 1	1403						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGGGTCAAAGAAGAACTTGT	0.627																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4207-4209)ttC>ttA		epiplakin 1							30.0	35.0	34.0					8																	144943213		2189	4290	6479	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144943213G>T	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4209C>A	8.37:g.144943213G>T	ENSP00000436337:p.Phe1403Leu						p.F1403L			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	4280	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1403					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.4209C>A		.	.	.	.	.	.	.	.	.	.	G	17.33	3.363194	0.61513	.	.	ENSG00000227184	ENST00000525985	T	0.66638	-0.22	4.66	2.79	0.32731	.	.	.	.	.	T	0.76716	0.4026	M	0.79258	2.445	0.31009	N	0.719426	D	0.76494	0.999	D	0.80764	0.994	T	0.71471	-0.4583	9	0.14252	T	0.57	.	8.4906	0.33098	0.2022:0.0:0.7978:0.0	.	1403	E9PPU0	.	L	1403	ENSP00000436337:F1403L	ENSP00000436337:F1403L	F	-	3	2	EPPK1	145015201	1.000000	0.71417	0.997000	0.53966	0.555000	0.35460	1.534000	0.36051	1.148000	0.42385	0.655000	0.94253	TTC		0.627	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		13	49	1	0	2.27111e-07	1	2.44955e-07	13	49				
CTAGE5	4253	broad.mit.edu	37	14	39815174	39815174	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:39815174G>A	ENST00000280083.3	+	21	2212	c.1898G>A	c.(1897-1899)aGa>aAa	p.R633K	CTAGE5_ENST00000553352.1_Missense_Mutation_p.R604K|CTAGE5_ENST00000341749.3_Missense_Mutation_p.R621K|CTAGE5_ENST00000396165.4_Missense_Mutation_p.R604K|CTAGE5_ENST00000341502.5_Missense_Mutation_p.R633K|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.R1168K|CTAGE5_ENST00000348007.3_Missense_Mutation_p.R590K|CTAGE5_ENST00000557038.1_Missense_Mutation_p.R553K|CTAGE5_ENST00000556148.1_Missense_Mutation_p.R558K|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.R604K|CTAGE5_ENST00000396158.2_Missense_Mutation_p.R638K			O15320	CTGE5_HUMAN	CTAGE family, member 5	633	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		AATTCTGGTAGACTGTCTGGA	0.348																																						ENST00000553728.1																			0											c.(3502-3504)aGa>aAa									80.0	80.0	80.0					14																	39815174		2203	4300	6503	SO:0001583	missense	4253							g.chr14:39815174G>A	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1898G>A	14.37:g.39815174G>A	ENSP00000280083:p.Arg633Lys					CTAGE5_ENST00000557038.1_Missense_Mutation_p.R553K|CTAGE5_ENST00000553352.1_Missense_Mutation_p.R604K|CTAGE5_ENST00000396165.4_Missense_Mutation_p.R604K|CTAGE5_ENST00000396158.2_Missense_Mutation_p.R638K|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.R604K|CTAGE5_ENST00000280083.3_Missense_Mutation_p.R633K|CTAGE5_ENST00000341749.3_Missense_Mutation_p.R621K|CTAGE5_ENST00000556148.1_Missense_Mutation_p.R558K|CTAGE5_ENST00000348007.3_Missense_Mutation_p.R590K|CTAGE5_ENST00000341502.5_Missense_Mutation_p.R633K	p.R1168K							25	3716	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Missense_Mutation	SNP	ENST00000280083.3	37	c.3503G>A	CCDS9674.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543813	0.65198	.	.	ENSG00000258941;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527;ENSG00000150527	ENST00000553728;ENST00000341749;ENST00000557038;ENST00000382245;ENST00000396165;ENST00000341502;ENST00000396158;ENST00000280083;ENST00000556148;ENST00000348007;ENST00000553352	T;T;T;T;T;T;T;T;T;T	0.40756	3.15;3.02;3.02;3.04;3.34;3.33;3.33;3.02;1.02;3.04	4.08	3.15	0.36227	.	0.000000	0.36268	N	0.002689	T	0.37210	0.0995	L	0.55834	1.745	0.29577	N	0.84945	B;B;B;B;B;B	0.19073	0.033;0.005;0.008;0.008;0.01;0.005	B;B;B;B;B;B	0.23275	0.045;0.023;0.009;0.023;0.031;0.023	T	0.31110	-0.9955	9	.	.	.	.	12.1575	0.54085	0.0:0.0:0.8283:0.1717	.	595;638;590;633;561;621	F8W9E1;O15320-5;O15320-2;O15320;O15320-7;G3XAC5	.;.;.;CTGE5_HUMAN;.;.	K	1168;621;553;595;604;633;638;633;558;590;604	ENSP00000452252:R1168K;ENSP00000343897:R621K;ENSP00000450869:R553K;ENSP00000379468:R604K;ENSP00000339286:R633K;ENSP00000379462:R638K;ENSP00000280083:R633K;ENSP00000452562:R558K;ENSP00000343912:R590K;ENSP00000450449:R604K	.	R	+	2	0	CTAGE5;RP11-407N17.3	38884925	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	5.669000	0.68081	1.255000	0.44051	0.585000	0.79938	AGA		0.348	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		23	49	0	0	0	1	0	23	49				
ALS2	57679	broad.mit.edu	37	2	202626249	202626249	+	Silent	SNP	C	C	T	rs145506395		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:202626249C>T	ENST00000264276.6	-	4	840	c.468G>A	c.(466-468)gcG>gcA	p.A156A	ALS2_ENST00000467448.1_Silent_p.A156A|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	156					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCTCGCCACACGCCAACTGTA	0.522													T|||	1	0.000199681	0.0	0.0	5008	,	,		20656	0.0		0.001	False		,,,				2504	0.0					ENST00000264276.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						c.(466-468)gcG>gcA		amyotrophic lateral sclerosis 2 (juvenile)							77.0	78.0	78.0					2																	202626249		2080	4207	6287	SO:0001819	synonymous_variant	57679				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity	g.chr2:202626249C>T	AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.468G>A	2.37:g.202626249C>T						ALS2_ENST00000467448.1_Silent_p.A156A|ALS2_ENST00000496244.1_5'UTR	p.A156A	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN			4	840	-			156					Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Silent	SNP	ENST00000264276.6	37	c.468G>A	CCDS42800.1																																																																																				0.522	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335562.3	NM_020919		26	33	0	0	0	1	0	26	33				
FNDC3A	22862	broad.mit.edu	37	13	49771952	49771952	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr13:49771952G>T	ENST00000492622.2	+	21	2737	c.2432G>T	c.(2431-2433)gGt>gTt	p.G811V	FNDC3A_ENST00000398316.3_Missense_Mutation_p.G755V|FNDC3A_ENST00000541916.1_Missense_Mutation_p.G811V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	811	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGTGGGCCTGGTCTCAGTTAT	0.413																																						ENST00000492622.2																			0				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41						c.(2431-2433)gGt>gTt		fibronectin type III domain containing 3A							144.0	140.0	141.0					13																	49771952		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49771952G>T	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2432G>T	13.37:g.49771952G>T	ENSP00000417257:p.Gly811Val					FNDC3A_ENST00000541916.1_Missense_Mutation_p.G811V|FNDC3A_ENST00000398316.3_Missense_Mutation_p.G755V	p.G811V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	21	2737	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	811			Fibronectin type-III 6.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.2432G>T	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666121	0.29604	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56103	0.48;0.48;0.48	5.76	5.76	0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.153753	0.45126	D	0.000397	T	0.45094	0.1325	L	0.28556	0.865	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.17098	0.009;0.017	T	0.20472	-1.0274	10	0.30854	T	0.27	-8.9147	18.9545	0.92653	0.0:0.0:1.0:0.0	.	755;811	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	V	811;747;811;755	ENSP00000417257:G811V;ENSP00000441831:G811V;ENSP00000381362:G755V	ENSP00000338579:G747V	G	+	2	0	FNDC3A	48669953	1.000000	0.71417	0.998000	0.56505	0.882000	0.50991	3.211000	0.51137	2.724000	0.93272	0.650000	0.86243	GGT		0.413	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		22	57	1	0	2.37509e-13	1	2.71696e-13	22	57				
PCDHGA2	56113	broad.mit.edu	37	5	140718660	140718660	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:140718660G>C	ENST00000394576.2	+	1	122	c.122G>C	c.(121-123)aGa>aCa	p.R41T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	41	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGATCGACAGAGGCTCCTTC	0.612											OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000394576.2																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(121-123)aGa>aCa									73.0	74.0	74.0					5																	140718660		2203	4300	6503	SO:0001583	missense	56113							g.chr5:140718660G>C	AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.122G>C	5.37:g.140718660G>C	ENSP00000378077:p.Arg41Thr		OREG0016854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1658	PCDHGA1_ENST00000517417.1_Intron	p.R41T	NM_018915.2	NP_061738.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	122	+								Q52LL6|Q9Y5D5	Missense_Mutation	SNP	ENST00000394576.2	37	c.122G>C	CCDS47289.1	.	.	.	.	.	.	.	.	.	.	.	8.284	0.816291	0.16607	.	.	ENSG00000081853	ENST00000394576	T	0.27720	1.65	5.07	3.91	0.45181	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	0.155526	0.29113	U	0.013103	T	0.19927	0.0479	N	0.16656	0.425	0.24479	N	0.994356	B;B	0.14805	0.001;0.011	B;B	0.22880	0.008;0.042	T	0.18650	-1.0330	10	0.56958	D	0.05	.	10.0577	0.42255	0.9173:0.0:0.0826:0.0	.	41;41	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	T	41	ENSP00000378077:R41T	ENSP00000378077:R41T	R	+	2	0	PCDHGA2	140698844	0.000000	0.05858	0.998000	0.56505	0.232000	0.25224	1.189000	0.32114	0.889000	0.36185	-0.482000	0.04802	AGA		0.612	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374738.1	NM_018915		36	91	0	0	0	1	0	36	91				
PRSS58	136541	broad.mit.edu	37	7	141952346	141952346	+	Silent	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr7:141952346G>T	ENST00000552471.1	-	4	841	c.522C>A	c.(520-522)atC>atA	p.I174I	PRSS58_ENST00000547058.2_Silent_p.I174I			Q8IYP2	PRS58_HUMAN	protease, serine, 58	174	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						TATTTTCCGTGATGTTGTAGG	0.433																																						ENST00000552471.1																			0				kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						c.(520-522)atC>atA		protease, serine, 58							181.0	164.0	169.0					7																	141952346		2203	4300	6503	SO:0001819	synonymous_variant	136541				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr7:141952346G>T		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.522C>A	7.37:g.141952346G>T						PRSS58_ENST00000547058.2_Silent_p.I174I	p.I174I			Q8IYP2	PRS58_HUMAN			4	841	-			174			Peptidase S1.		B3KVJ6|D3DXD2	Silent	SNP	ENST00000552471.1	37	c.522C>A	CCDS5871.1																																																																																				0.433	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2	NM_001001317		27	92	1	0	2.44723e-14	1	2.88697e-14	27	92				
AHNAK2	113146	broad.mit.edu	37	14	105408332	105408332	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:105408332C>A	ENST00000333244.5	-	7	13575	c.13456G>T	c.(13456-13458)Gtg>Ttg	p.V4486L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4486						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GACACATCCACCGAGACCTCG	0.562																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(13456-13458)Gtg>Ttg		AHNAK nucleoprotein 2							179.0	187.0	184.0					14																	105408332		2043	4184	6227	SO:0001583	missense	113146					nucleus		g.chr14:105408332C>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.13456G>T	14.37:g.105408332C>A	ENSP00000353114:p.Val4486Leu					AHNAK2_ENST00000557457.1_Intron	p.V4486L	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	13575	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4486					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.13456G>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	C	2.724	-0.265842	0.05754	.	.	ENSG00000185567	ENST00000333244	T	0.01015	5.44	3.6	1.55	0.23275	.	0.860258	0.09304	U	0.820498	T	0.00936	0.0031	L	0.28776	0.89	0.09310	N	1	B	0.26041	0.14	B	0.33846	0.171	T	0.49000	-0.8984	10	0.09084	T	0.74	-13.219	5.6776	0.17757	0.0:0.3985:0.4139:0.1875	.	4486	Q8IVF2	AHNK2_HUMAN	L	4486	ENSP00000353114:V4486L	ENSP00000353114:V4486L	V	-	1	0	AHNAK2	104479377	0.000000	0.05858	0.038000	0.18304	0.038000	0.13279	-2.233000	0.01204	-0.026000	0.13895	0.306000	0.20318	GTG		0.562	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		67	158	1	0	6.26901e-30	1	8.02221e-30	67	158				
PMS1	5378	broad.mit.edu	37	2	190717430	190717430	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:190717430C>T	ENST00000441310.2	+	7	982	c.749C>T	c.(748-750)aCt>aTt	p.T250I	PMS1_ENST00000447232.2_Missense_Mutation_p.T250I|PMS1_ENST00000409823.3_Missense_Mutation_p.T211I|PMS1_ENST00000418224.3_Missense_Mutation_p.T74I|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Missense_Mutation_p.T74I	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	250					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			CACTCTTTCACTAGTCTTTCA	0.328			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)																														ENST00000441310.2			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	"""Mis, N"""	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		"""colorectal, endometrial, ovarian"""			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(748-750)aCt>aTt	Direct reversal of damage;Mismatch excision repair (MMR)	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)							102.0	108.0	106.0					2																	190717430		2203	4298	6501	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190717430C>T		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.749C>T	2.37:g.190717430C>T	ENSP00000406490:p.Thr250Ile					PMS1_ENST00000418224.3_Missense_Mutation_p.T74I|PMS1_ENST00000432292.3_Missense_Mutation_p.T74I|PMS1_ENST00000409823.3_Missense_Mutation_p.T211I|PMS1_ENST00000447232.2_Missense_Mutation_p.T250I|PMS1_ENST00000421722.1_3'UTR	p.T250I	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		7	982	+			250					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.749C>T	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272461	0.80580	.	.	ENSG00000064933	ENST00000392338;ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000424307;ENST00000409593	D;D;T;D;D;D;D	0.83992	-1.79;-1.79;-1.39;-1.79;-1.79;-1.79;-1.79	5.39	5.39	0.77823	Ribosomal protein S5 domain 2-type fold (1);DNA mismatch repair protein, N-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);DNA mismatch repair protein, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.89230	0.6656	L	0.55990	1.75	0.80722	D	1	P;P;P;D;P;P;P	0.57899	0.87;0.793;0.943;0.981;0.782;0.599;0.87	P;P;P;D;P;P;P	0.71870	0.667;0.809;0.874;0.975;0.667;0.573;0.667	D	0.87601	0.2497	10	0.39692	T	0.17	-17.7833	19.513	0.95151	0.0:1.0:0.0:0.0	.	250;211;211;35;211;250;250	Q4VAL4;B4DMF4;Q5FBZ9;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;.;.;PMS1_HUMAN	I	74;250;74;211;250;74;189;35	ENSP00000406490:T250I;ENSP00000404492:T74I;ENSP00000387125:T211I;ENSP00000401064:T250I;ENSP00000398378:T74I;ENSP00000389938:T189I;ENSP00000387169:T35I	ENSP00000376149:T74I	T	+	2	0	PMS1	190425675	1.000000	0.71417	0.920000	0.36463	0.887000	0.51463	5.161000	0.64935	2.685000	0.91497	0.484000	0.47621	ACT		0.328	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			27	68	0	0	0	1	0	27	68				
MYH15	22989	broad.mit.edu	37	3	108188927	108188927	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:108188927C>A	ENST00000273353.3	-	15	1632	c.1576G>T	c.(1576-1578)Ggt>Tgt	p.G526C		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	526	Myosin motor.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAATCCAGACCAAAGCCAATA	0.368																																						ENST00000273353.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						c.(1576-1578)Ggt>Tgt		myosin, heavy chain 15							154.0	143.0	147.0					3																	108188927		1858	4104	5962	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108188927C>A	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.1576G>T	3.37:g.108188927C>A	ENSP00000273353:p.Gly526Cys						p.G526C	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN			15	1632	-			526			Myosin head-like.			Missense_Mutation	SNP	ENST00000273353.3	37	c.1576G>T	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.342409	0.81911	.	.	ENSG00000144821	ENST00000273353	D	0.88354	-2.37	6.01	5.11	0.69529	Myosin head, motor domain (3);	.	.	.	.	D	0.97238	0.9097	H	0.99368	4.535	0.54753	D	0.999982	D	0.89917	1.0	D	0.97110	1.0	D	0.98485	1.0607	9	0.87932	D	0	.	17.3433	0.87303	0.0:0.8754:0.1246:0.0	.	526	Q9Y2K3	MYH15_HUMAN	C	526	ENSP00000273353:G526C	ENSP00000273353:G526C	G	-	1	0	MYH15	109671617	1.000000	0.71417	0.883000	0.34634	0.962000	0.63368	6.010000	0.70753	2.861000	0.98227	0.650000	0.86243	GGT		0.368	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		20	56	1	0	2.98393e-07	1	3.19556e-07	20	56				
HLA-DQB2	3120	broad.mit.edu	37	6	32725567	32725567	+	Missense_Mutation	SNP	C	C	T	rs77504727		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr6:32725567C>T	ENST00000437316.2	-	4	803	c.740G>A	c.(739-741)cGt>cAt	p.R247H	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.R247H			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	251					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						ACCCCTGTGACGGATGATAAG	0.552																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(739-741)cGt>cAt		major histocompatibility complex, class II, DQ beta 2																																				SO:0001583	missense	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725567C>T	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.740G>A	6.37:g.32725567C>T	ENSP00000396330:p.Arg247His					HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000437316.2_Missense_Mutation_p.R247H	p.R247H			Q5SR06	Q5SR06_HUMAN			4	801	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	ENST00000437316.2	37	c.740G>A		.	.	.	.	.	.	.	.	.	.	.	0.003	-2.431383	0.00184	.	.	ENSG00000232629	ENST00000437316;ENST00000435145	T;T	0.00625	6.17;6.14	3.25	-3.63	0.04529	.	0.752796	0.12134	N	0.496536	T	0.00210	0.0006	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.09377	0.004	T	0.25502	-1.0130	9	0.41790	T	0.15	.	9.6955	0.40154	0.0:0.4123:0.0:0.5877	rs34134876	247	A2ADX3	.	H	247	ENSP00000396330:R247H;ENSP00000410512:R247H	ENSP00000410512:R247H	R	-	2	0	HLA-DQB2	32833545	0.000000	0.05858	0.008000	0.14137	0.015000	0.08874	-1.557000	0.02166	-0.833000	0.04245	-1.855000	0.00564	CGT		0.552	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			4	37	0	0	0	1	0	4	37				
ATP1A2	477	broad.mit.edu	37	1	160109760	160109760	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:160109760G>A	ENST00000361216.3	+	22	3109	c.3020G>A	c.(3019-3021)cGg>cAg	p.R1007Q	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R996Q|ATP1A2_ENST00000459972.1_3'UTR	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	1007			R -> W (in FHM2; some patients exhibit a clinical overlap between migraine and epilepsy). {ECO:0000269|PubMed:23838748}.		adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)	p.R1007P(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTCATCCTGCGGCGGTATCCT	0.587																																						ENST00000361216.3																			1	Substitution - Missense(1)	p.R1007P(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69						c.(3019-3021)cGg>cAg		ATPase, Na+/K+ transporting, alpha 2 polypeptide							120.0	108.0	112.0					1																	160109760		2203	4300	6503	SO:0001583	missense	477				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr1:160109760G>A	AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.3020G>A	1.37:g.160109760G>A	ENSP00000354490:p.Arg1007Gln					ATP1A2_ENST00000392233.3_Missense_Mutation_p.R996Q	p.R1007Q	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)		22	3109	+	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		1007					D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	ENST00000361216.3	37	c.3020G>A	CCDS1196.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.120127|5.120127	0.94385|0.94385	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000447527|ENST00000361216;ENST00000392233;ENST00000435866	.|D;D	.|0.91011	.|-2.77;-2.77	4.37|4.37	4.37|4.37	0.52481|0.52481	.|ATPase, P-type,  transmembrane domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96358|0.96358	0.8812|0.8812	H|H	0.97940|0.97940	4.11|4.11	0.58432|0.58432	D|D	0.999998|0.999998	.|D;D	.|0.62365	.|0.991;0.985	.|P;P	.|0.60286	.|0.872;0.749	D|D	0.97458|0.97458	1.0032|1.0032	5|10	.|0.87932	.|D	.|0	.|.	14.8061|14.8061	0.69956|0.69956	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|907;1007	.|F5GXJ7;P50993	.|.;AT1A2_HUMAN	S|Q	701|1007;996;710	.|ENSP00000354490:R1007Q;ENSP00000376066:R996Q	.|ENSP00000354490:R1007Q	G|R	+|+	1|2	0|0	ATP1A2|ATP1A2	158376384|158376384	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	9.601000|9.601000	0.98297|0.98297	2.420000|2.420000	0.82092|0.82092	0.655000|0.655000	0.94253|0.94253	GGC|CGG		0.587	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702		31	67	0	0	0	1	0	31	67				
COL4A1	1282	broad.mit.edu	37	13	110853209	110853209	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr13:110853209C>T	ENST00000375820.4	-	20	1233	c.1112G>A	c.(1111-1113)gGa>gAa	p.G371E	COL4A1_ENST00000543140.1_Missense_Mutation_p.G371E	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	371	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			ACCTGGAGGTCCGGGTTGGCC	0.393																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(1111-1113)gGa>gAa		collagen, type IV, alpha 1							100.0	97.0	98.0					13																	110853209		2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110853209C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1112G>A	13.37:g.110853209C>T	ENSP00000364979:p.Gly371Glu					COL4A1_ENST00000543140.1_Missense_Mutation_p.G371E	p.G371E	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		20	1233	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	371			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.1112G>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	c	15.82	2.945987	0.53079	.	.	ENSG00000187498	ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99619	-6.28;-6.28	4.05	4.05	0.47172	.	0.128270	0.52532	D	0.000072	D	0.99729	0.9894	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97112	0.9805	10	0.62326	D	0.03	.	15.9023	0.79387	0.0:1.0:0.0:0.0	.	371	P02462	CO4A1_HUMAN	E	371	ENSP00000364979:G371E;ENSP00000443348:G371E	ENSP00000364979:G371E	G	-	2	0	COL4A1	109651210	1.000000	0.71417	0.989000	0.46669	0.970000	0.65996	4.037000	0.57311	2.199000	0.70637	0.552000	0.68991	GGA		0.393	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			15	46	0	0	0	1	0	15	46				
PRTFDC1	56952	broad.mit.edu	37	10	25144250	25144250	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr10:25144250C>T	ENST00000320152.6	-	7	578	c.550G>A	c.(550-552)Gac>Aac	p.D184N	PRTFDC1_ENST00000376378.1_Missense_Mutation_p.D184N	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN	phosphoribosyl transferase domain containing 1	184					nucleoside metabolic process (GO:0009116)	cytosol (GO:0005829)	magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						CACTTACAGTCAGGTCTAAAG	0.328																																						ENST00000320152.6																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9						c.(550-552)Gac>Aac		phosphoribosyl transferase domain containing 1							161.0	148.0	152.0					10																	25144250		2203	4300	6503	SO:0001583	missense	56952				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP salvage|grooming behavior|hypoxanthine metabolic process|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chr10:25144250C>T	AF226056	CCDS7145.1, CCDS60506.1	10p12.31	2003-11-10			ENSG00000099256	ENSG00000099256			23333	protein-coding gene	gene with protein product		610751					Standard	XM_005252537		Approved	HHGP	uc001ise.1	Q9NRG1	OTTHUMG00000017829	ENST00000320152.6:c.550G>A	10.37:g.25144250C>T	ENSP00000318602:p.Asp184Asn					PRTFDC1_ENST00000376378.1_Missense_Mutation_p.D184N	p.D184N	NM_020200.5	NP_064585.1	Q9NRG1	PRDC1_HUMAN			7	578	-			184					B7Z1Z3|Q53HA7|Q59EL9|Q5VV18|Q5VV20	Missense_Mutation	SNP	ENST00000320152.6	37	c.550G>A	CCDS7145.1	.	.	.	.	.	.	.	.	.	.	C	14.68	2.608055	0.46527	.	.	ENSG00000099256	ENST00000320152;ENST00000358336;ENST00000376378	D;D	0.99909	-5.31;-7.87	5.06	3.16	0.36331	.	0.096778	0.64402	N	0.000001	D	0.99813	0.9918	H	0.95611	3.695	0.80722	D	1	B;B	0.12013	0.001;0.005	B;B	0.24974	0.014;0.057	D	0.98465	1.0598	10	0.66056	D	0.02	.	10.1596	0.42844	0.0:0.7876:0.1375:0.0749	.	184;184	Q9NRG1-2;Q9NRG1	.;PRDC1_HUMAN	N	184	ENSP00000318602:D184N;ENSP00000365558:D184N	ENSP00000318602:D184N	D	-	1	0	PRTFDC1	25184256	1.000000	0.71417	0.987000	0.45799	0.731000	0.41821	2.596000	0.46205	0.510000	0.28216	0.467000	0.42956	GAC		0.328	PRTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047243.2	NM_020200		16	23	0	0	0	1	0	16	23				
POU6F2	11281	broad.mit.edu	37	7	39504009	39504009	+	Silent	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr7:39504009C>T	ENST00000403058.1	+	11	1954	c.1800C>T	c.(1798-1800)atC>atT	p.I600I	POU6F2_ENST00000559001.1_Silent_p.I545I|POU6F2_ENST00000518318.2_Silent_p.I564I	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	600					central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CCGAGTTTATCGGGAGTGAAC	0.572																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1690-1692)atC>atT		POU class 6 homeobox 2							59.0	56.0	57.0					7																	39504009		2203	4300	6503	SO:0001819	synonymous_variant	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39504009C>T	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.1800C>T	7.37:g.39504009C>T						POU6F2_ENST00000559001.1_Silent_p.I545I|POU6F2_ENST00000403058.1_Silent_p.I600I	p.I564I			P78424	PO6F2_HUMAN			10	1734	+			600			POU-specific.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	ENST00000403058.1	37	c.1692C>T	CCDS34620.2																																																																																				0.572	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		17	44	0	0	0	1	0	17	44				
LUZP1	7798	broad.mit.edu	37	1	23415528	23415528	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:23415528A>G	ENST00000302291.4	-	5	3892	c.3091T>C	c.(3091-3093)Tgt>Cgt	p.C1031R	RP1-184J9.2_ENST00000427154.1_RNA|LUZP1_ENST00000374623.3_Missense_Mutation_p.C1031R|LUZP1_ENST00000418342.1_Missense_Mutation_p.C1031R			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	1031					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTGAGTGTACAGTCTTCCCCT	0.552																																						ENST00000302291.4																			0				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31						c.(3091-3093)Tgt>Cgt		leucine zipper protein 1							110.0	103.0	105.0					1																	23415528		2203	4300	6503	SO:0001583	missense	7798					nucleus		g.chr1:23415528A>G	BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.3091T>C	1.37:g.23415528A>G	ENSP00000303758:p.Cys1031Arg					LUZP1_ENST00000418342.1_Missense_Mutation_p.C1031R|LUZP1_ENST00000374623.3_Missense_Mutation_p.C1031R	p.C1031R			Q86V48	LUZP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)	5	3892	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)	1031					Q5TH93|Q8N4X3|Q8TEH1	Missense_Mutation	SNP	ENST00000302291.4	37	c.3091T>C	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	A	7.470	0.646387	0.14451	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291	T;T;T	0.12039	2.72;2.72;2.72	5.53	1.5	0.22942	.	0.394655	0.22022	N	0.065710	T	0.10465	0.0256	L	0.36672	1.1	0.23386	N	0.997786	B	0.26195	0.144	B	0.30179	0.112	T	0.31081	-0.9956	10	0.25106	T	0.35	.	8.6949	0.34289	0.5473:0.0:0.0:0.4527	.	1031	Q86V48	LUZP1_HUMAN	R	1031	ENSP00000393460:C1031R;ENSP00000363752:C1031R;ENSP00000303758:C1031R	ENSP00000303758:C1031R	C	-	1	0	LUZP1	23288115	0.038000	0.19896	0.743000	0.31040	0.359000	0.29487	0.062000	0.14389	0.412000	0.25729	0.533000	0.62120	TGT		0.552	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631		31	110	0	0	0	1	0	31	110				
C10orf12	26148	broad.mit.edu	37	10	98744493	98744493	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr10:98744493G>A	ENST00000286067.2	+	1	3453	c.3346G>A	c.(3346-3348)Gat>Aat	p.D1116N		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1116										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AAAGCATGCTGATGGAGCCAC	0.502																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(3346-3348)Gat>Aat		chromosome 10 open reading frame 12							53.0	57.0	56.0					10																	98744493		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98744493G>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.3346G>A	10.37:g.98744493G>A	ENSP00000286067:p.Asp1116Asn						p.D1116N	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	3453	+		Colorectal(252;0.172)	1116					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.3346G>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	7.792	0.711770	0.15306	.	.	ENSG00000155640	ENST00000286067;ENST00000539886	T	0.07114	3.22	4.98	4.98	0.66077	.	0.544435	0.15037	U	0.284075	T	0.10637	0.0260	N	0.24115	0.695	0.09310	N	1	P	0.41848	0.763	P	0.44897	0.463	T	0.17349	-1.0372	10	0.54805	T	0.06	-4.7306	17.2373	0.87002	0.0:0.0:1.0:0.0	.	1116	Q8N655	CJ012_HUMAN	N	1116;950	ENSP00000286067:D1116N	ENSP00000286067:D1116N	D	+	1	0	C10orf12	98734483	0.982000	0.34865	0.105000	0.21289	0.027000	0.11550	3.896000	0.56266	2.330000	0.79161	0.561000	0.74099	GAT		0.502	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		31	65	0	0	0	1	0	31	65				
ALPK2	115701	broad.mit.edu	37	18	56203890	56203890	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr18:56203890C>T	ENST00000361673.3	-	5	3742	c.3529G>A	c.(3529-3531)Gca>Aca	p.A1177T	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1177						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CTAGAGCTTGCGGGTGAGTGG	0.572																																						ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(3529-3531)Gca>Aca		alpha-kinase 2							89.0	79.0	82.0					18																	56203890		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56203890C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3529G>A	18.37:g.56203890C>T	ENSP00000354991:p.Ala1177Thr					RP11-1151B14.4_ENST00000591360.1_RNA	p.A1177T	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			5	3742	-			1177					Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.3529G>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715371	0.68844	.	.	ENSG00000198796	ENST00000361673	T	0.53423	0.62	5.51	3.71	0.42584	.	0.956659	0.08702	N	0.906221	T	0.51432	0.1674	L	0.46157	1.445	0.09310	N	1	D;D	0.67145	0.996;0.987	P;B	0.52710	0.707;0.375	T	0.35425	-0.9789	10	0.72032	D	0.01	-6.2762	6.7973	0.23732	0.1749:0.7358:0.0:0.0893	.	1172;1177	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	T	1177	ENSP00000354991:A1177T	ENSP00000354991:A1177T	A	-	1	0	ALPK2	54354870	0.005000	0.15991	0.001000	0.08648	0.019000	0.09904	0.829000	0.27449	0.670000	0.31165	0.609000	0.83330	GCA		0.572	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		4	184	0	0	0	1	0	4	184				
KCNT2	343450	broad.mit.edu	37	1	196458986	196458986	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:196458986G>C	ENST00000294725.9	-	3	1172	c.257C>G	c.(256-258)cCt>cGt	p.P86R	KCNT2_ENST00000367433.5_Missense_Mutation_p.P86R|KCNT2_ENST00000609185.1_Missense_Mutation_p.P86R|KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.P86R			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	86					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCCTTGTGAAGGGTTTTCTAG	0.294																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(256-258)cCt>cGt		potassium channel, subfamily T, member 2							106.0	112.0	110.0					1																	196458986		2202	4293	6495	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196458986G>C	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.257C>G	1.37:g.196458986G>C	ENSP00000294725:p.Pro86Arg					KCNT2_ENST00000451324.2_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.P86R|KCNT2_ENST00000294725.8_Missense_Mutation_p.P86R	p.P86R			Q6UVM3	KCNT2_HUMAN			3	358	-			86					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.257C>G	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.111714	0.56398	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.19105	2.19;2.17;2.39	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000012	T	0.39091	0.1065	M	0.66378	2.025	0.80722	D	1	P;P;P;P	0.51933	0.84;0.949;0.9;0.84	P;P;P;P	0.59056	0.477;0.851;0.676;0.477	T	0.05289	-1.0894	10	0.14656	T	0.56	-11.4782	16.9284	0.86183	0.0:0.0:1.0:0.0	.	86;86;86;86	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	R	86	ENSP00000356403:P86R;ENSP00000356401:P86R;ENSP00000294725:P86R	ENSP00000294725:P86R	P	-	2	0	KCNT2	194725609	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	7.383000	0.79741	2.667000	0.90743	0.655000	0.94253	CCT		0.294	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		25	79	0	0	0	1	0	25	79				
OR4M2	390538	broad.mit.edu	37	15	22368779	22368779	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:22368779C>A	ENST00000332663.2	+	1	302	c.204C>A	c.(202-204)ttC>ttA	p.F68L	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		ATCTGGCCTTCCTTGATATTT	0.413																																						ENST00000332663.2																			0				NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63						c.(202-204)ttC>ttA		olfactory receptor, family 4, subfamily M, member 2							466.0	402.0	424.0					15																	22368779		2203	4300	6503	SO:0001583	missense	390538				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:22368779C>A	AC060768	CCDS32172.1	15q11.2	2013-09-23			ENSG00000182974	ENSG00000182974		"""GPCR / Class A : Olfactory receptors"""	15373	protein-coding gene	gene with protein product							Standard	NM_001004719		Approved		uc010tzu.2	Q8NGB6	OTTHUMG00000171738	ENST00000332663.2:c.204C>A	15.37:g.22368779C>A	ENSP00000329467:p.Phe68Leu					RP11-69H14.6_ENST00000558896.1_RNA	p.F68L	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)	1	302	+		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	68					B9EH16|Q6IEY2	Missense_Mutation	SNP	ENST00000332663.2	37	c.204C>A	CCDS32172.1	.	.	.	.	.	.	.	.	.	.	.	9.955	1.221297	0.22457	.	.	ENSG00000182974	ENST00000332663	T	0.00966	5.49	2.5	-0.674	0.11369	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49305	D	0.000147	T	0.00906	0.0030	L	0.41710	1.295	0.20403	N	0.999901	B	0.10296	0.003	B	0.11329	0.006	T	0.45877	-0.9231	10	0.42905	T	0.14	-12.3698	6.1602	0.20360	0.0:0.4719:0.0:0.5281	.	68	Q8NGB6	OR4M2_HUMAN	L	68	ENSP00000329467:F68L	ENSP00000329467:F68L	F	+	3	2	OR4M2	19870143	0.000000	0.05858	0.996000	0.52242	0.985000	0.73830	-0.353000	0.07691	-0.305000	0.08831	0.448000	0.29417	TTC		0.413	OR4M2-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414921.1			62	336	1	0	5.73376e-24	1	7.21498e-24	62	336				
SPATA6L	55064	broad.mit.edu	37	9	4622510	4622510	+	Splice_Site	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:4622510C>T	ENST00000454239.2	-	8	915	c.670G>A	c.(670-672)Gtg>Atg	p.V224M	SPATA6L_ENST00000223517.5_5'Flank|SPATA6L_ENST00000381890.5_Splice_Site_p.V238M|SPATA6L_ENST00000475086.1_Splice_Site_p.V166M|SPATA6L_ENST00000381895.5_Splice_Site_p.V101M			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	224																	GCACTGTCCACCTGAAAGTAA	0.428																																						ENST00000454239.2																			0											c.e8-1		spermatogenesis associated 6-like							75.0	72.0	73.0					9																	4622510		1861	4097	5958	SO:0001630	splice_region_variant	55064							g.chr9:4622510C>T	AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.670-1G>A	9.37:g.4622510C>T						SPATA6L_ENST00000475086.1_Splice_Site_p.V166_splice|SPATA6L_ENST00000381895.5_Splice_Site_p.V101_splice|SPATA6L_ENST00000381890.5_Splice_Site_p.V238_splice	p.V224_splice			B4DIY4	B4DIY4_HUMAN			8	915	-			166					B4DIY4|Q5JVJ5|Q8IY90	Splice_Site	SNP	ENST00000454239.2	37	c.669_splice		.	.	.	.	.	.	.	.	.	.	C	19.16	3.773842	0.69992	.	.	ENSG00000106686	ENST00000454239;ENST00000381890;ENST00000475086;ENST00000381895	T;T;T;T	0.57273	1.35;0.41;0.96;0.6	4.97	4.97	0.65823	.	0.204253	0.33346	N	0.005012	T	0.70413	0.3221	M	0.72894	2.215	0.43347	D	0.9954	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.73480	-0.3969	10	0.87932	D	0	-15.1732	13.593	0.61971	0.0:1.0:0.0:0.0	.	166;101;224	B4DIY4;E7ENB5;Q8N4H0	.;.;CI068_HUMAN	M	224;238;166;101	ENSP00000404277:V224M;ENSP00000371314:V238M;ENSP00000417063:V166M;ENSP00000371319:V101M	ENSP00000371314:V238M	V	-	1	0	C9orf68	4612510	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.569000	0.53827	2.567000	0.86603	0.643000	0.83706	GTG		0.428	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985	Missense_Mutation	16	49	0	0	0	1	0	16	49				
TOR1AIP1	26092	broad.mit.edu	37	1	179877788	179877788	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:179877788G>T	ENST00000606911.2	+	8	1078	c.887G>T	c.(886-888)aGa>aTa	p.R296I	TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.R297I|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.R297I|TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.R175I			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	296					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CAAACTGCAAGAATAAGGACC	0.328																																						ENST00000435319.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						c.(886-888)aGa>aTa		torsin A interacting protein 1							72.0	80.0	77.0					1																	179877788		2203	4300	6503	SO:0001583	missense	26092					integral to membrane|nuclear inner membrane		g.chr1:179877788G>T		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.887G>T	1.37:g.179877788G>T	ENSP00000476687:p.Arg296Ile					TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.R297I|TOR1AIP1_ENST00000474875.1_3'UTR	p.R296I	NM_001267578.1|NM_015602.3	NP_001254507.1|NP_056417.2	Q5JTV8	TOIP1_HUMAN			8	1078	+			296					A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	c.887G>T	CCDS1335.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	16.08|16.08|16.08	3.021677|3.021677|3.021677	0.54576|0.54576|0.54576	.|.|.	.|.|.	ENSG00000143337|ENSG00000143337|ENSG00000143337	ENST00000447964|ENST00000527391|ENST00000528443;ENST00000271583;ENST00000435319	.|.|T;T;T	.|.|0.27402	.|.|1.67;1.67;1.67	4.84|4.84|4.84	2.94|2.94|2.94	0.34122|0.34122|0.34122	.|.|.	.|.|0.513584	.|.|0.18141	.|.|N	.|.|0.150405	.|T|T	.|0.46151|0.46151	.|0.1378|0.1378	M|M|M	0.62723|0.62723|0.62723	1.935|1.935|1.935	0.18873|0.18873|0.18873	N|N|N	0.999988|0.999988|0.999988	.|.|D	.|.|0.89917	.|.|1.0	.|.|D	.|.|0.77557	.|.|0.99	.|T|T	.|0.16541|0.16541	.|-1.0399|-1.0399	.|5|9	.|.|.	.|.|.	.|.|.	-2.9408|-2.9408|-2.9408	5.955|5.955|5.955	0.19269|0.19269|0.19269	0.1029:0.1959:0.7012:0.0|0.1029:0.1959:0.7012:0.0|0.1029:0.1959:0.7012:0.0	.|.|.	.|.|296	.|.|Q5JTV8	.|.|TOIP1_HUMAN	X|N|I	50|172|297;297;296	.|.|ENSP00000435365:R297I;ENSP00000271583:R297I;ENSP00000393292:R296I	.|.|.	E|K|R	+|+|+	1|3|2	0|2|0	TOR1AIP1|TOR1AIP1|TOR1AIP1	178144411|178144411|178144411	0.518000|0.518000|0.518000	0.26234|0.26234|0.26234	0.021000|0.021000|0.021000	0.16686|0.16686|0.16686	0.001000|0.001000|0.001000	0.01503|0.01503|0.01503	2.007000|2.007000|2.007000	0.40883|0.40883|0.40883	1.032000|1.032000|1.032000	0.39892|0.39892|0.39892	-0.314000|-0.314000|-0.314000	0.08810|0.08810|0.08810	GAA|AAG|AGA		0.328	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		8	26	1	0	0.0809354	1	0.0814749	8	26				
DOCK8	81704	broad.mit.edu	37	9	405019	405019	+	Missense_Mutation	SNP	T	T	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:405019T>G	ENST00000453981.1	+	27	3448	c.3336T>G	c.(3334-3336)ttT>ttG	p.F1112L	DOCK8_ENST00000382331.1_Missense_Mutation_p.F414L|DOCK8_ENST00000432829.2_Missense_Mutation_p.F1044L|DOCK8_ENST00000469391.1_Missense_Mutation_p.F1012L|DOCK8_ENST00000382329.1_Missense_Mutation_p.F579L			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1112					blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TGAACCTTTTTTTTATGAATG	0.383																																						ENST00000432829.2																			0				breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65						c.(3130-3132)ttT>ttG		dedicator of cytokinesis 8							135.0	116.0	123.0					9																	405019		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:405019T>G	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.3336T>G	9.37:g.405019T>G	ENSP00000408464:p.Phe1112Leu					DOCK8_ENST00000382331.1_Missense_Mutation_p.F414L|DOCK8_ENST00000453981.1_Missense_Mutation_p.F1112L|DOCK8_ENST00000382329.1_Missense_Mutation_p.F579L|DOCK8_ENST00000469391.1_Missense_Mutation_p.F1012L	p.F1044L	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	27	3448	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1112					A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.3132T>G	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	T	8.358	0.832388	0.16820	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382331;ENST00000382329	T;T;T;T;T	0.23147	1.92;1.92;1.92;1.92;1.92	5.97	4.08	0.47627	.	0.092033	0.85682	N	0.000000	T	0.20659	0.0497	L	0.29908	0.895	0.52501	D	0.999952	B;B;B;B	0.15473	0.013;0.0;0.0;0.0	B;B;B;B	0.18263	0.021;0.001;0.001;0.001	T	0.02126	-1.1209	10	0.38643	T	0.18	.	14.2205	0.65823	0.0:0.9183:0.0:0.0817	.	414;1012;579;1112	A2A370;E9PH09;A2A369;Q8NF50	.;.;.;DOCK8_HUMAN	L	1112;1080;1044;1012;414;579	ENSP00000408464:F1112L;ENSP00000394888:F1044L;ENSP00000419438:F1012L;ENSP00000371768:F414L;ENSP00000371766:F579L	ENSP00000287364:F1080L	F	+	3	2	DOCK8	395019	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.009000	0.40903	0.793000	0.33875	-0.250000	0.11733	TTT		0.383	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307		9	22	0	0	0	1	0	9	22				
HOXC4	3221	broad.mit.edu	37	12	54447714	54447714	+	Missense_Mutation	SNP	T	T	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:54447714T>A	ENST00000430889.2	+	1	54	c.8T>A	c.(7-9)aTg>aAg	p.M3K	HOXC4_ENST00000609810.1_Missense_Mutation_p.M3K|HOXC4_ENST00000303406.4_Missense_Mutation_p.M3K	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	3					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TTAATGATCATGAGCTCGTAT	0.398																																						ENST00000430889.2																			0				cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						c.(7-9)aTg>aAg		homeobox C4							75.0	74.0	74.0					12																	54447714		2203	4300	6503	SO:0001583	missense	3221					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54447714T>A		CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.8T>A	12.37:g.54447714T>A	ENSP00000399808:p.Met3Lys					HOXC4_ENST00000303406.4_Missense_Mutation_p.M3K	p.M3K	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN			1	54	+			3						Missense_Mutation	SNP	ENST00000430889.2	37	c.8T>A	CCDS8873.1	.	.	.	.	.	.	.	.	.	.	T	18.27	3.587318	0.66105	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	T;T	0.80304	-1.36;-1.36	3.41	3.41	0.39046	.	0.000000	0.85682	D	0.000000	D	0.88966	0.6581	M	0.90019	3.08	0.80722	D	1	P	0.50156	0.932	P	0.58520	0.84	D	0.90887	0.4758	10	0.87932	D	0	.	11.785	0.52037	0.0:0.0:0.0:1.0	.	3	P09017	HXC4_HUMAN	K	3	ENSP00000305973:M3K;ENSP00000399808:M3K	ENSP00000305973:M3K	M	+	2	0	HOXC4	52733981	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.443000	0.80521	1.775000	0.52247	0.379000	0.24179	ATG		0.398	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358963.1			36	61	0	0	0	1	0	36	61				
MMRN1	22915	broad.mit.edu	37	4	90816327	90816327	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr4:90816327C>G	ENST00000394980.1	+	2	524	c.205C>G	c.(205-207)Cca>Gca	p.P69A	MMRN1_ENST00000264790.2_Missense_Mutation_p.P69A|MMRN1_ENST00000394981.1_Missense_Mutation_p.P69A			Q13201	MMRN1_HUMAN	multimerin 1	69					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		AGCTACAACTCCAGAGGCAAG	0.453																																						ENST00000394980.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72						c.(205-207)Cca>Gca		multimerin 1							66.0	68.0	68.0					4																	90816327		2203	4300	6503	SO:0001583	missense	22915				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen		g.chr4:90816327C>G	U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.205C>G	4.37:g.90816327C>G	ENSP00000378431:p.Pro69Ala					MMRN1_ENST00000264790.2_Missense_Mutation_p.P69A|MMRN1_ENST00000394981.1_Missense_Mutation_p.P69A	p.P69A			Q13201	MMRN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)	2	524	+		Hepatocellular(203;0.114)	69					Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	ENST00000394980.1	37	c.205C>G	CCDS3635.1	.	.	.	.	.	.	.	.	.	.	C	7.133	0.580190	0.13686	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000394981	T;T;T	0.70164	0.25;0.25;-0.46	4.67	1.7	0.24286	.	0.138969	0.33127	N	0.005246	T	0.48223	0.1488	L	0.38175	1.15	0.09310	N	1	B;B	0.23540	0.015;0.087	B;B	0.17722	0.019;0.018	T	0.21381	-1.0247	10	0.21014	T	0.42	.	6.4146	0.21710	0.0:0.5443:0.3558:0.0999	.	69;69	Q13201-2;Q13201	.;MMRN1_HUMAN	A	69	ENSP00000378431:P69A;ENSP00000264790:P69A;ENSP00000378432:P69A	ENSP00000264790:P69A	P	+	1	0	MMRN1	91035350	0.000000	0.05858	0.110000	0.21437	0.078000	0.17371	-0.242000	0.08928	0.634000	0.30469	0.563000	0.77884	CCA		0.453	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253546.2	NM_007351		18	75	0	0	0	1	0	18	75				
ZNF789	285989	broad.mit.edu	37	7	99084464	99084464	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr7:99084464A>G	ENST00000331410.5	+	5	901	c.631A>G	c.(631-633)Agg>Ggg	p.R211G	ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789	211					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAAAGTCATTAGGCGTAAGGC	0.428																																						ENST00000331410.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(631-633)Agg>Ggg		zinc finger protein 789							136.0	136.0	136.0					7																	99084464		2203	4300	6503	SO:0001583	missense	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99084464A>G	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.631A>G	7.37:g.99084464A>G	ENSP00000331927:p.Arg211Gly					ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron	p.R211G	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN			5	901	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		211					A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.631A>G	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	A	14.60	2.584248	0.46110	.	.	ENSG00000198556	ENST00000331410	T	0.53423	0.62	3.21	-1.15	0.09709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28797	0.0714	L	0.27053	0.805	0.09310	N	1	B	0.33413	0.411	B	0.33846	0.171	T	0.18999	-1.0319	9	0.38643	T	0.18	.	3.9598	0.09405	0.3371:0.3485:0.0:0.3145	.	211	Q5FWF6	ZN789_HUMAN	G	211	ENSP00000331927:R211G	ENSP00000331927:R211G	R	+	1	2	ZNF789	98922400	0.000000	0.05858	0.000000	0.03702	0.988000	0.76386	0.322000	0.19576	0.027000	0.15297	-0.323000	0.08544	AGG		0.428	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		4	158	0	0	0	1	0	4	158				
CDAN1	146059	broad.mit.edu	37	15	43020903	43020903	+	Silent	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:43020903G>T	ENST00000356231.3	-	20	2774	c.2751C>A	c.(2749-2751)atC>atA	p.I917I		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	917					chromatin assembly (GO:0031497)|chromatin organization (GO:0006325)|negative regulation of DNA replication (GO:0008156)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGGAACACAAGATCTCCAACA	0.612																																						ENST00000356231.3																			0				endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24						c.(2749-2751)atC>atA		codanin 1							75.0	65.0	68.0					15																	43020903		2203	4299	6502	SO:0001819	synonymous_variant	146059					integral to membrane	protein binding	g.chr15:43020903G>T	AF525398	CCDS32209.1	15q15.2	2012-04-25	2012-04-25			ENSG00000140326			1713	protein-coding gene	gene with protein product		607465	"""congenital dyserythropoietic anemia, type I"""			8634422, 12434312	Standard	XM_005254177		Approved	CDA-I, CDAI	uc001zql.3	Q8IWY9		ENST00000356231.3:c.2751C>A	15.37:g.43020903G>T							p.I917I	NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN		GBM - Glioblastoma multiforme(94;2.49e-07)	20	2774	-		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)	917					Q6NYD0|Q7Z7L5|Q969N3	Silent	SNP	ENST00000356231.3	37	c.2751C>A	CCDS32209.1																																																																																				0.612	CDAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431103.1	XM_085300		33	89	1	0	1.36161e-19	1	1.65809e-19	33	89				
CD19	930	broad.mit.edu	37	16	28943929	28943929	+	Silent	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:28943929C>A	ENST00000324662.3	+	2	395	c.351C>A	c.(349-351)ggC>ggA	p.G117G	CD19_ENST00000567541.1_Silent_p.G117G|CD19_ENST00000538922.1_Silent_p.G117G			P15391	CD19_HUMAN	CD19 molecule	117					B cell receptor signaling pathway (GO:0050853)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of immune response (GO:0050776)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor signaling protein activity (GO:0005057)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ATGTGGAGGGCAGCGGTGAGG	0.662																																						ENST00000538922.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						c.(349-351)ggC>ggA		CD19 molecule							6.0	7.0	7.0					16																	28943929		2109	4084	6193	SO:0001819	synonymous_variant	930				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity	g.chr16:28943929C>A		CCDS10644.1, CCDS53998.1	16p11.2	2014-09-17	2006-03-28		ENSG00000177455	ENSG00000177455		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1633	protein-coding gene	gene with protein product		107265	"""CD19 antigen"""				Standard	NM_001770		Approved		uc010byo.2	P15391	OTTHUMG00000097049	ENST00000324662.3:c.351C>A	16.37:g.28943929C>A						CD19_ENST00000567541.1_Silent_p.G117G|CD19_ENST00000324662.3_Silent_p.G117G	p.G117G	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN			2	413	+			117					A0N0P9|F5H635|Q96S68|Q9BRD6	Silent	SNP	ENST00000324662.3	37	c.351C>A	CCDS10644.1																																																																																				0.662	CD19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214152.2			6	14	1	0	0.0215528	1	0.0219896	6	14				
SYNJ2	8871	broad.mit.edu	37	6	158509796	158509796	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr6:158509796C>T	ENST00000355585.4	+	24	3523	c.3448C>T	c.(3448-3450)Cag>Tag	p.Q1150*	SYNJ2_ENST00000367121.3_Nonsense_Mutation_p.Q1150*|SYNJ2_ENST00000367122.2_Nonsense_Mutation_p.Q1105*|SYNJ2_ENST00000367112.1_Nonsense_Mutation_p.Q235*	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1150					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGGAGCACCTCAGCAACCTGT	0.463																																						ENST00000355585.4																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3448-3450)Cag>Tag		synaptojanin 2							84.0	84.0	84.0					6																	158509796		2203	4300	6503	SO:0001587	stop_gained	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158509796C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.3448C>T	6.37:g.158509796C>T	ENSP00000347792:p.Gln1150*					SYNJ2_ENST00000367122.2_Nonsense_Mutation_p.Q1105*|SYNJ2_ENST00000367112.1_Nonsense_Mutation_p.Q235*|SYNJ2_ENST00000367121.3_Nonsense_Mutation_p.Q1150*	p.Q1150*	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	24	3523	+			1150					Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Nonsense_Mutation	SNP	ENST00000355585.4	37	c.3448C>T	CCDS5254.1	.	.	.	.	.	.	.	.	.	.	C	42	9.676849	0.99236	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585;ENST00000367112	.	.	.	5.48	5.48	0.80851	.	0.119276	0.38111	N	0.001820	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	19.3497	0.94378	0.0:1.0:0.0:0.0	.	.	.	.	X	1105;1150;1150;235	.	ENSP00000347792:Q1150X	Q	+	1	0	SYNJ2	158429784	0.998000	0.40836	0.788000	0.31933	0.814000	0.46013	4.950000	0.63603	0.876000	0.35872	0.477000	0.44152	CAG		0.463	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2			27	85	0	0	0	1	0	27	85				
DNAJC7	7266	broad.mit.edu	37	17	40134298	40134298	+	Silent	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:40134298C>T	ENST00000457167.4	-	11	1442	c.1206G>A	c.(1204-1206)cgG>cgA	p.R402R	DNAJC7_ENST00000426588.3_Silent_p.R346R|DNAJC7_ENST00000316603.7_Silent_p.R346R	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	402	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				chaperone cofactor-dependent protein refolding (GO:0070389)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				AGGCCCGTTTCCGATAAGCTT	0.532																																					Colon(63;618 1117 8600 10857 19751)	ENST00000457167.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						c.(1204-1206)cgG>cgA		DnaJ (Hsp40) homolog, subfamily C, member 7							106.0	91.0	96.0					17																	40134298		1940	4144	6084	SO:0001819	synonymous_variant	7266				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding	g.chr17:40134298C>T	U46571	CCDS45677.1, CCDS45678.1	17q11.2	2013-01-10				ENSG00000168259		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	12392	protein-coding gene	gene with protein product		601964		TTC2		8836031, 11147971	Standard	NR_029431		Approved	TPR2	uc002hyo.3	Q99615		ENST00000457167.4:c.1206G>A	17.37:g.40134298C>T						DNAJC7_ENST00000316603.7_Silent_p.R346R|DNAJC7_ENST00000426588.3_Silent_p.R346R	p.R402R	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN			11	1442	-		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)	402			J.		Q7Z784	Silent	SNP	ENST00000457167.4	37	c.1206G>A	CCDS45677.1																																																																																				0.532	DNAJC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453366.2			28	42	0	0	0	1	0	28	42				
BRIP1	83990	broad.mit.edu	37	17	59770874	59770874	+	Splice_Site	SNP	C	C	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:59770874C>G	ENST00000259008.2	-	18	2760		c.e18-1		BRIP1_ENST00000577598.1_Splice_Site	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1						DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TCTAATACATCTAGAAAAAAT	0.343			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.e18-1	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							68.0	71.0	70.0					17																	59770874		2203	4298	6501	SO:0001630	splice_region_variant	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59770874C>G	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.2493-1G>C	17.37:g.59770874C>G						BRIP1_ENST00000577598.1_Splice_Site		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			18	2760	-								Q3MJE2|Q8NCI5	Splice_Site	SNP	ENST00000259008.2	37		CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.912185	0.52439	.	.	ENSG00000136492	ENST00000259008	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0331	0.86466	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BRIP1	57125656	1.000000	0.71417	0.983000	0.44433	0.444000	0.32077	5.792000	0.69052	2.814000	0.96858	0.585000	0.79938	.		0.343	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043	Intron	12	45	0	0	0	1	0	12	45				
HOXD9	3235	broad.mit.edu	37	2	176988200	176988200	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:176988200G>T	ENST00000249499.6	+	1	1113	c.704G>T	c.(703-705)gGg>gTg	p.G235V	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	235					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal system morphogenesis (GO:0048704)|hindlimb morphogenesis (GO:0035137)|mammary gland development (GO:0030879)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GCCGCGACTGGGACGGGCGGC	0.701																																					GBM(47;924 952 7959 9248 12176)	ENST00000249499.6																			0				endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10						c.(703-705)gGg>gTg		homeobox D9							6.0	7.0	6.0					2																	176988200		2125	4161	6286	SO:0001583	missense	3235					nucleus	sequence-specific DNA binding	g.chr2:176988200G>T		CCDS2267.2	2q31.1	2011-06-20	2005-12-22		ENSG00000128709	ENSG00000128709		"""Homeoboxes / ANTP class : HOXL subclass"""	5140	protein-coding gene	gene with protein product		142982	"""homeo box D9"""	HOX4C, HOX4		1973146, 1358459	Standard	NM_014213		Approved		uc010zex.2	P28356	OTTHUMG00000132516	ENST00000249499.6:c.704G>T	2.37:g.176988200G>T	ENSP00000249499:p.Gly235Val					HOXD-AS2_ENST00000440016.2_RNA	p.G235V	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)	1	1113	+			235					Q86ST1	Missense_Mutation	SNP	ENST00000249499.6	37	c.704G>T	CCDS2267.2	.	.	.	.	.	.	.	.	.	.	G	3.775	-0.046863	0.07407	.	.	ENSG00000128709	ENST00000249499	D	0.94417	-3.42	4.55	3.66	0.41972	.	4.179040	0.00465	N	0.000104	D	0.93038	0.7784	L	0.36672	1.1	0.29803	N	0.832263	P	0.41313	0.745	B	0.43575	0.424	D	0.83909	0.0294	10	0.31617	T	0.26	.	11.0045	0.47626	0.0:0.1891:0.8109:0.0	.	235	P28356	HXD9_HUMAN	V	235	ENSP00000249499:G235V	ENSP00000249499:G235V	G	+	2	0	HOXD9	176696446	0.995000	0.38212	0.852000	0.33557	0.226000	0.24999	1.867000	0.39499	0.994000	0.38892	0.555000	0.69702	GGG		0.701	HOXD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255698.4			4	10	1	0	0.00024832	1	0.000256824	4	10				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	38	0	0	0	1	0	3	38				
RPL3	6122	broad.mit.edu	37	22	39710694	39710694	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:39710694C>G	ENST00000216146.4	-	6	1019	c.846G>C	c.(844-846)aaG>aaC	p.K282N	RPL3_ENST00000465618.1_5'UTR|SNORD83B_ENST00000386745.1_RNA|RPL3_ENST00000401609.1_Missense_Mutation_p.K230N|SNORD83A_ENST00000386747.1_RNA	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN	ribosomal protein L3	282					cellular protein metabolic process (GO:0044267)|cellular response to interleukin-4 (GO:0071353)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Melanoma(58;0.04)				Homoharringtonine(DB04865)	ACCTCACCTTCTTGTTGATCT	0.597																																						ENST00000216146.4																			0				breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(844-846)aaG>aaC		ribosomal protein L3							55.0	47.0	50.0					22																	39710694		2203	4300	6503	SO:0001583	missense	6122				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome	g.chr22:39710694C>G	AB007166	CCDS13988.1	22q13	2011-04-06			ENSG00000100316	ENSG00000100316		"""L ribosomal proteins"""	10332	protein-coding gene	gene with protein product		604163				2891103, 9582194	Standard	NM_000967		Approved	L3	uc003axi.3	P39023	OTTHUMG00000151079	ENST00000216146.4:c.846G>C	22.37:g.39710694C>G	ENSP00000346001:p.Lys282Asn					RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Missense_Mutation_p.K230N	p.K282N	NM_000967.3|NM_001033853.1	NP_000958.1|NP_001029025.1	P39023	RL3_HUMAN			6	1019	-	Melanoma(58;0.04)		282					B2RDV9|Q15548|Q5I0G0	Missense_Mutation	SNP	ENST00000216146.4	37	c.846G>C	CCDS13988.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942187	0.73672	.	.	ENSG00000100316	ENST00000401609;ENST00000216146;ENST00000402527	T;T;T	0.46451	0.87;0.87;0.87	4.96	3.71	0.42584	Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	T	0.69762	0.3147	M	0.91354	3.2	0.80722	D	1	D;P;D;P	0.76494	0.989;0.935;0.999;0.866	P;P;D;P	0.76575	0.828;0.855;0.988;0.651	T	0.78066	-0.2349	10	0.72032	D	0.01	.	14.1709	0.65510	0.0:0.9137:0.0:0.0863	.	253;230;282;233	Q8TBW1;G5E9G0;P39023;B3KS36	.;.;RL3_HUMAN;.	N	230;282;230	ENSP00000386101:K230N;ENSP00000346001:K282N;ENSP00000385762:K230N	ENSP00000346001:K282N	K	-	3	2	RPL3	38040640	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	1.622000	0.36997	2.297000	0.77311	0.462000	0.41574	AAG		0.597	RPL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321196.1	NM_000967		8	22	0	0	0	1	0	8	22				
ELF4	2000	broad.mit.edu	37	X	129201241	129201241	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chrX:129201241G>A	ENST00000308167.5	-	9	1826	c.1447C>T	c.(1447-1449)Ctc>Ttc	p.L483F	ELF4_ENST00000335997.7_Missense_Mutation_p.L483F	NM_001421.3	NP_001412.1			E74-like factor 4 (ets domain transcription factor)											breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						AGGCCACTGAGAATCAGTGGA	0.647			T	ERG	AML																																	ENST00000308167.5				Dom	yes		X	Xq26	2000	T	E74-like factor 4 (ets domain transcription factor)			L	ERG		AML		0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						c.(1447-1449)Ctc>Ttc		E74-like factor 4 (ets domain transcription factor)							27.0	30.0	29.0					X																	129201241		2202	4299	6501	SO:0001583	missense	2000				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:129201241G>A	U32645	CCDS14617.1	Xq26	2014-09-17			ENSG00000102034	ENSG00000102034			3319	protein-coding gene	gene with protein product		300775				8895518	Standard	NM_001421		Approved	MEF, ELFR	uc004eve.4	Q99607	OTTHUMG00000022390	ENST00000308167.5:c.1447C>T	X.37:g.129201241G>A	ENSP00000311280:p.Leu483Phe					ELF4_ENST00000335997.7_Missense_Mutation_p.L483F	p.L483F	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN			9	1826	-			483						Missense_Mutation	SNP	ENST00000308167.5	37	c.1447C>T	CCDS14617.1	.	.	.	.	.	.	.	.	.	.	g	16.69	3.193369	0.58017	.	.	ENSG00000102034	ENST00000335997;ENST00000308167	T;T	0.24151	1.87;1.87	4.56	4.56	0.56223	.	0.438263	0.18458	N	0.140632	T	0.33381	0.0861	L	0.29908	0.895	0.30183	N	0.800267	D	0.69078	0.997	P	0.60886	0.88	T	0.12268	-1.0554	10	0.51188	T	0.08	.	11.5374	0.50645	0.0:0.0:1.0:0.0	.	483	Q99607	ELF4_HUMAN	F	483	ENSP00000338608:L483F;ENSP00000311280:L483F	ENSP00000311280:L483F	L	-	1	0	ELF4	129028922	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	4.645000	0.61404	2.102000	0.63906	0.509000	0.49947	CTC		0.647	ELF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058243.1	NM_001421		27	26	0	0	0	1	0	27	26				
AQR	9716	broad.mit.edu	37	15	35168166	35168166	+	Silent	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:35168166C>T	ENST00000156471.5	-	28	3432	c.3207G>A	c.(3205-3207)gaG>gaA	p.E1069E		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1069					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAGTTTCTATCTCCAGAATCT	0.358																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(3205-3207)gaG>gaA		aquarius intron-binding spliceosomal factor							98.0	96.0	96.0					15																	35168166		1827	4077	5904	SO:0001819	synonymous_variant	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35168166C>T	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3207G>A	15.37:g.35168166C>T							p.E1069E	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	28	3432	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	1069					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	c.3207G>A	CCDS42013.1																																																																																				0.358	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		15	48	0	0	0	1	0	15	48				
TAF4	6874	broad.mit.edu	37	20	60589725	60589725	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr20:60589725T>C	ENST00000252996.4	-	2	1398	c.1399A>G	c.(1399-1401)Atg>Gtg	p.M467V	TAF4_ENST00000609045.1_5'Flank	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	467					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			TGAGGAATCATTAACAACTGC	0.632																																						ENST00000252996.3																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37						c.(1399-1401)Atg>Gtg		TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa							97.0	88.0	91.0					20																	60589725		2203	4300	6503	SO:0001583	missense	6874				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr20:60589725T>C	Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.1399A>G	20.37:g.60589725T>C	ENSP00000252996:p.Met467Val						p.M467V	NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.1e-07)		2	1398	-	Breast(26;1e-08)		467					A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	ENST00000252996.4	37	c.1399A>G	CCDS33500.1	.	.	.	.	.	.	.	.	.	.	T	9.076	0.998116	0.19043	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.26223	1.79;1.75	4.97	4.97	0.65823	.	0.129390	0.64402	D	0.000002	T	0.24586	0.0596	L	0.55990	1.75	0.54753	D	0.999983	B	0.26483	0.15	B	0.22753	0.041	T	0.04537	-1.0944	10	0.16896	T	0.51	-29.7226	14.6332	0.68671	0.0:0.0:0.0:1.0	.	467	O00268	TAF4_HUMAN	V	467;331	ENSP00000252996:M467V;ENSP00000399091:M331V	ENSP00000252996:M467V	M	-	1	0	TAF4	60023120	1.000000	0.71417	0.887000	0.34795	0.005000	0.04900	3.738000	0.55067	1.866000	0.54105	0.379000	0.24179	ATG		0.632	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079968.2	NM_003185		46	87	0	0	0	1	0	46	87				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			645752							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	163	0	0	0	1	0	5	163				
EGR2	1959	broad.mit.edu	37	10	64574192	64574192	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr10:64574192C>G	ENST00000242480.3	-	2	531	c.206G>C	c.(205-207)aGg>aCg	p.R69T	EGR2_ENST00000493899.2_Intron|EGR2_ENST00000411732.1_Missense_Mutation_p.R19T|EGR2_ENST00000439032.1_Missense_Mutation_p.R69T	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN	early growth response 2	69					brain development (GO:0007420)|brain segmentation (GO:0035284)|cell death (GO:0008219)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|facial nerve structural organization (GO:0021612)|fat cell differentiation (GO:0045444)|learning or memory (GO:0007611)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of apoptotic process (GO:0043066)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein export from nucleus (GO:0006611)|protein sumoylation (GO:0016925)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ossification (GO:0030278)|response to insulin (GO:0032868)|rhombomere 3 formation (GO:0021660)|rhombomere 5 formation (GO:0021666)|rhythmic behavior (GO:0007622)|Schwann cell differentiation (GO:0014037)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATCCAACGACCTCTTCTCTCC	0.507																																						ENST00000242480.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36						c.(205-207)aGg>aCg		early growth response 2							115.0	109.0	111.0					10																	64574192		2203	4300	6503	SO:0001583	missense	1959				fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	g.chr10:64574192C>G	BC035625	CCDS7267.1, CCDS44409.1	10q21.1	2014-09-17	2009-04-23		ENSG00000122877	ENSG00000122877		"""Zinc fingers, C2H2-type"""	3239	protein-coding gene	gene with protein product	"""Krox-20 homolog, Drosophila"""	129010	"""early growth response 2 (Krox-20 homolog, Drosophila)"""	KROX20			Standard	NM_000399		Approved		uc001jmi.3	P11161	OTTHUMG00000018308	ENST00000242480.3:c.206G>C	10.37:g.64574192C>G	ENSP00000242480:p.Arg69Thr					EGR2_ENST00000411732.1_Missense_Mutation_p.R19T|EGR2_ENST00000439032.1_Missense_Mutation_p.R69T|EGR2_ENST00000493899.2_Intron	p.R69T	NM_000399.3|NM_001136177.1	NP_000390.2|NP_001129649.1	P11161	EGR2_HUMAN			2	531	-	Prostate(12;0.0297)|all_hematologic(501;0.228)		69					B2R724|B3KRD7|Q68CZ5|Q8IV26|Q9UNA6	Missense_Mutation	SNP	ENST00000242480.3	37	c.206G>C	CCDS7267.1	.	.	.	.	.	.	.	.	.	.	C	10.03	1.238656	0.22711	.	.	ENSG00000122877	ENST00000242480;ENST00000439032;ENST00000411732;ENST00000432380	T;T;T	0.12879	2.64;2.64;2.71	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.25938	0.0632	L	0.55481	1.735	0.49687	D	0.999817	D;P	0.54964	0.969;0.948	P;P	0.55824	0.785;0.614	T	0.01863	-1.1258	10	0.14252	T	0.57	-18.1398	18.1347	0.89614	0.0:1.0:0.0:0.0	.	19;69	P11161-2;P11161	.;EGR2_HUMAN	T	69;69;19;82	ENSP00000242480:R69T;ENSP00000402040:R69T;ENSP00000387634:R19T	ENSP00000242480:R69T	R	-	2	0	EGR2	64244198	0.968000	0.33430	1.000000	0.80357	0.997000	0.91878	2.543000	0.45752	2.592000	0.87571	0.563000	0.77884	AGG		0.507	EGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048245.2	NM_000399		18	57	0	0	0	1	0	18	57				
KIF23	9493	broad.mit.edu	37	15	69728029	69728029	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:69728029C>G	ENST00000260363.4	+	12	1308	c.1191C>G	c.(1189-1191)ttC>ttG	p.F397L	KIF23_ENST00000352331.4_Missense_Mutation_p.F397L|KIF23_ENST00000395392.2_Missense_Mutation_p.F397L|KIF23_ENST00000558585.1_Missense_Mutation_p.F214L|KIF23_ENST00000537891.1_Missense_Mutation_p.F214L|KIF23_ENST00000559279.1_Missense_Mutation_p.F397L	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	397	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CCCATCTGTTCAAGAACTACT	0.358																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(1189-1191)ttC>ttG		kinesin family member 23							152.0	152.0	152.0					15																	69728029		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69728029C>G	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.1191C>G	15.37:g.69728029C>G	ENSP00000260363:p.Phe397Leu					KIF23_ENST00000558585.1_Missense_Mutation_p.F214L|KIF23_ENST00000395392.2_Missense_Mutation_p.F397L|KIF23_ENST00000352331.4_Missense_Mutation_p.F397L|KIF23_ENST00000559279.1_Missense_Mutation_p.F397L|KIF23_ENST00000537891.1_Missense_Mutation_p.F214L	p.F397L	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			12	1308	+			397					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.1191C>G	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314142	0.81358	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.41758	0.99;0.99;0.99;0.99	4.96	4.96	0.65561	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.40719	0.1128	N	0.04355	-0.22	0.80722	D	1	D;D;D	0.71674	0.998;0.99;0.986	D;D;D	0.72982	0.971;0.979;0.962	T	0.40813	-0.9543	10	0.15499	T	0.54	.	17.5469	0.87864	0.0:1.0:0.0:0.0	.	214;397;397	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	L	397;397;397;214	ENSP00000260363:F397L;ENSP00000304978:F397L;ENSP00000378790:F397L;ENSP00000442969:F214L	ENSP00000260363:F397L	F	+	3	2	KIF23	67515083	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	0.893000	0.28336	2.443000	0.82685	0.467000	0.42956	TTC		0.358	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				16	43	0	0	0	1	0	16	43				
RALGPS2	55103	broad.mit.edu	37	1	178854323	178854323	+	Silent	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:178854323G>A	ENST00000367635.3	+	12	1355	c.1017G>A	c.(1015-1017)agG>agA	p.R339R	RALGPS2_ENST00000367634.2_Silent_p.R339R|RALGPS2_ENST00000477383.1_3'UTR	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	339					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						ATGGACATAGGAAGTGCCATA	0.408																																						ENST00000367635.3																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1015-1017)agG>agA		Ral GEF with PH domain and SH3 binding motif 2							78.0	81.0	80.0					1																	178854323		2203	4300	6503	SO:0001819	synonymous_variant	55103				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding	g.chr1:178854323G>A	AK098470	CCDS1325.1, CCDS65733.1	1q24	2013-01-11			ENSG00000116191	ENSG00000116191		"""Pleckstrin homology (PH) domain containing"""	30279	protein-coding gene	gene with protein product						10747847, 12102558	Standard	NM_152663		Approved	KIAA0351, FLJ10244, FLJ25604	uc001glz.3	Q86X27	OTTHUMG00000035076	ENST00000367635.3:c.1017G>A	1.37:g.178854323G>A						RALGPS2_ENST00000367634.2_Silent_p.R339R|RALGPS2_ENST00000477383.1_3'UTR|RALGPS2_ENST00000324778.4_Silent_p.R304R	p.R339R	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN			12	1355	+			339					B7Z7B1|Q5T5Z1|Q5VZ67|Q9NW78	Silent	SNP	ENST00000367635.3	37	c.1017G>A	CCDS1325.1	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264471	0.23136	.	.	ENSG00000116191	ENST00000415888	.	.	.	5.62	4.71	0.59529	.	.	.	.	.	T	0.56863	0.2014	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55147	-0.8186	4	.	.	.	.	7.0736	0.25191	0.1525:0.1434:0.7042:0.0	.	.	.	.	K	77	.	.	E	+	1	0	RALGPS2	177120946	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.540000	0.45727	1.375000	0.46248	0.585000	0.79938	GAA		0.408	RALGPS2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084926.2	NM_152663		17	42	0	0	0	1	0	17	42				
ARL1	400	broad.mit.edu	37	12	101796647	101796647	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:101796647T>C	ENST00000261636.8	-	3	394	c.220A>G	c.(220-222)Atc>Gtc	p.I74V	ARL1_ENST00000551828.1_Missense_Mutation_p.I57V|ARL1_ENST00000549302.1_5'Flank|ARL1_ENST00000551671.1_Missense_Mutation_p.I74V|ARL1_ENST00000539055.1_Missense_Mutation_p.I28V|ARL1_ENST00000536227.1_Missense_Mutation_p.I57V|ARL1_ENST00000551688.1_Intron	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN	ADP-ribosylation factor-like 1	74					activation of phospholipase D activity (GO:0031584)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)|toxin metabolic process (GO:0009404)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	enzyme activator activity (GO:0008047)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		CCATACCTGATACTTGTCTGT	0.353																																						ENST00000261636.8																			0				central_nervous_system(1)|upper_aerodigestive_tract(1)	2						c.(220-222)Atc>Gtc		ADP-ribosylation factor-like 1							140.0	134.0	136.0					12																	101796647		1845	4079	5924	SO:0001583	missense	400				small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding	g.chr12:101796647T>C	BX537387	CCDS44958.1, CCDS73510.1	12q23.3	2014-05-09						"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	692	protein-coding gene	gene with protein product		603425					Standard	XM_005268869		Approved	ARFL1	uc001tib.3	P40616	OTTHUMG00000170271	ENST00000261636.8:c.220A>G	12.37:g.101796647T>C	ENSP00000261636:p.Ile74Val					ARL1_ENST00000551671.1_Missense_Mutation_p.I74V|ARL1_ENST00000551828.1_Missense_Mutation_p.I57V|ARL1_ENST00000536227.1_Missense_Mutation_p.I57V|ARL1_ENST00000539055.1_Missense_Mutation_p.I28V|ARL1_ENST00000551688.1_Intron	p.I74V	NM_001177.4	NP_001168.1	P40616	ARL1_HUMAN		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)	3	394	-		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)	74					B4DWW1|P80417|Q53XB1	Missense_Mutation	SNP	ENST00000261636.8	37	c.220A>G	CCDS44958.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.684265	0.88639	.	.	ENSG00000120805	ENST00000261636;ENST00000539055;ENST00000536227;ENST00000551828;ENST00000551671	T;T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13;-0.13	5.32	5.32	0.75619	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.80798	0.4692	M	0.88105	2.93	0.80722	D	1	P;P;P	0.52061	0.95;0.582;0.908	P;P;P	0.61800	0.894;0.52;0.633	D	0.84854	0.0815	10	0.87932	D	0	.	15.4468	0.75238	0.0:0.0:0.0:1.0	.	28;74;74	B4DZG7;F8VYN9;P40616	.;.;ARL1_HUMAN	V	74;28;57;57;74	ENSP00000261636:I74V;ENSP00000439590:I28V;ENSP00000441808:I57V;ENSP00000448850:I57V;ENSP00000448912:I74V	ENSP00000261636:I74V	I	-	1	0	ARL1	100320778	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.659000	0.83766	2.238000	0.73509	0.528000	0.53228	ATC		0.353	ARL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408246.1	NM_001177		15	23	0	0	0	1	0	15	23				
GUCY2F	2986	broad.mit.edu	37	X	108708493	108708493	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chrX:108708493G>A	ENST00000218006.2	-	3	1201	c.910C>T	c.(910-912)Ctc>Ttc	p.L304F		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	304					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCTTCCCGGAGCTTTGGGTTG	0.483																																						ENST00000218006.2																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						c.(910-912)Ctc>Ttc		guanylate cyclase 2F, retinal							141.0	120.0	127.0					X																	108708493		2203	4300	6503	SO:0001583	missense	2986				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chrX:108708493G>A	L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.910C>T	X.37:g.108708493G>A	ENSP00000218006:p.Leu304Phe						p.L304F	NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN			3	1201	-			304					Q9UJF1	Missense_Mutation	SNP	ENST00000218006.2	37	c.910C>T	CCDS14545.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.956132	0.53293	.	.	ENSG00000101890	ENST00000218006	T	0.75477	-0.94	3.94	2.16	0.27623	Extracellular ligand-binding receptor (1);	0.141402	0.48767	N	0.000161	T	0.74412	0.3713	M	0.80332	2.49	0.48830	D	0.999712	B	0.20550	0.046	B	0.33750	0.169	T	0.68815	-0.5309	10	0.45353	T	0.12	.	7.3897	0.26903	0.2282:0.0:0.7718:0.0	.	304	P51841	GUC2F_HUMAN	F	304	ENSP00000218006:L304F	ENSP00000218006:L304F	L	-	1	0	GUCY2F	108595149	1.000000	0.71417	0.092000	0.20876	0.979000	0.70002	5.123000	0.64703	0.447000	0.26695	0.600000	0.82982	CTC		0.483	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057884.1	NM_001522		55	40	0	0	0	1	0	55	40				
FGF11	2256	broad.mit.edu	37	17	7345999	7345999	+	Silent	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:7345999T>C	ENST00000293829.4	+	4	1089	c.495T>C	c.(493-495)cgT>cgC	p.R165R	CHRNB1_ENST00000576360.1_5'Flank|FGF11_ENST00000575398.1_Silent_p.R41R|RP11-104H15.10_ENST00000575331.1_RNA|FGF11_ENST00000575082.1_Silent_p.R41R|CHRNB1_ENST00000306071.2_5'Flank|FGF11_ENST00000575235.1_Silent_p.R41R|RP11-104H15.8_ENST00000576615.1_RNA|CHRNB1_ENST00000536404.2_5'Flank|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000572907.1_Silent_p.R41R	NM_004112.2	NP_004103.1	Q92914	FGF11_HUMAN	fibroblast growth factor 11	165					cell-cell signaling (GO:0007267)|nervous system development (GO:0007399)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	growth factor activity (GO:0008083)			central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6		Prostate(122;0.157)				ACCGCCAGCGTCGTTCTGGCC	0.557																																						ENST00000575331.1																			0				central_nervous_system(1)|large_intestine(3)|ovary(1)|prostate(1)	6						c.(121-123)cgT>cgC		fibroblast growth factor 11							166.0	168.0	167.0					17																	7345999		2203	4300	6503	SO:0001819	synonymous_variant	2256				cell-cell signaling|nervous system development|signal transduction		growth factor activity	g.chr17:7345999T>C		CCDS11105.1	17p13.1	2008-07-18			ENSG00000161958	ENSG00000161958			3667	protein-coding gene	gene with protein product	"""fibroblast growth factor homologous factor 3"""	601514				8790420	Standard	NM_004112		Approved	FHF3, FLJ16061, MGC45269, MGC102953	uc002ggz.3	Q92914	OTTHUMG00000108136	ENST00000293829.4:c.495T>C	17.37:g.7345999T>C						FGF11_ENST00000575082.1_Silent_p.R41R|RP11-104H15.7_ENST00000575310.1_RNA|FGF11_ENST00000575398.1_Silent_p.R41R|FGF11_ENST00000572907.1_Silent_p.R41R|FGF11_ENST00000293829.4_Silent_p.R165R|RP11-104H15.8_ENST00000576615.1_RNA|FGF11_ENST00000575235.1_Silent_p.R41R	p.R41R			Q92914	FGF11_HUMAN			3	2267	+		Prostate(122;0.157)	165					Q2YDX8	Silent	SNP	ENST00000293829.4	37	c.123T>C	CCDS11105.1																																																																																				0.557	FGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226939.3	NM_004112		182	122	0	0	0	1	0	182	122				
MUC4	4585	broad.mit.edu	37	3	195507874	195507874	+	Missense_Mutation	SNP	G	G	T	rs199875073		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:195507874G>T	ENST00000463781.3	-	2	11036	c.10577C>A	c.(10576-10578)aCt>aAt	p.T3526N	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T3526N|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TACTGAGGAAGTGTCGGTGAC	0.602																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(10576-10578)aCt>aAt		mucin 4, cell surface associated							44.0	36.0	38.0					3																	195507874		680	1586	2266	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195507874G>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10577C>A	3.37:g.195507874G>T	ENSP00000417498:p.Thr3526Asn					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T3526N|MUC4_ENST00000349607.4_Intron	p.T3526N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	11036	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	323					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.10577C>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	4.955	0.177484	0.09443	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30714	1.52;1.62	0.743	0.743	0.18347	.	.	.	.	.	T	0.11793	0.0287	N	0.08118	0	0.09310	N	1	B	0.22909	0.077	B	0.09377	0.004	T	0.29181	-1.0020	8	.	.	.	.	3.2552	0.06828	0.3579:0.0:0.6421:0.0	.	3398	E7ESK3	.	N	3526	ENSP00000417498:T3526N;ENSP00000420243:T3526N	.	T	-	2	0	MUC4	196992653	0.003000	0.15002	0.011000	0.14972	0.011000	0.07611	1.098000	0.31000	0.088000	0.17205	0.089000	0.15464	ACT		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	14	1	0	0.184627	1	0.184627	3	14				
XIRP2	129446	broad.mit.edu	37	2	168106093	168106093	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:168106093A>C	ENST00000409195.1	+	9	8280	c.8191A>C	c.(8191-8193)Agt>Cgt	p.S2731R	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2509R|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2731R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2556					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAGCTATGAAAGTCATAAACA	0.348																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(8191-8193)Agt>Cgt		xin actin-binding repeat containing 2							78.0	75.0	76.0					2																	168106093		1847	4084	5931	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106093A>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8191A>C	2.37:g.168106093A>C	ENSP00000386840:p.Ser2731Arg					XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S2509R|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.S2731R|XIRP2_ENST00000409756.2_Intron	p.S2731R	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	8280	+			2556					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8191A>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	A	5.284	0.237732	0.10023	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02525	4.26;4.26;4.26	6.07	2.32	0.28847	.	1.035460	0.07541	N	0.913853	T	0.02230	0.0069	N	0.22421	0.69	0.09310	N	1	B;B;B	0.12630	0.003;0.006;0.006	B;B;B	0.14023	0.005;0.01;0.01	T	0.51060	-0.8753	10	0.15499	T	0.54	-0.8155	3.9825	0.09501	0.6671:0.1311:0.07:0.1318	.	2556;2556;2509	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	R	2731;2731;2509;145	ENSP00000386840:S2731R;ENSP00000295237:S2731R;ENSP00000387255:S2509R	ENSP00000295237:S2731R	S	+	1	0	XIRP2	167814339	0.015000	0.18098	0.026000	0.17262	0.196000	0.23810	0.732000	0.26072	0.150000	0.19136	-0.438000	0.05819	AGT		0.348	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		8	83	0	0	0	1	0	8	83				
RSPO1	284654	broad.mit.edu	37	1	38079439	38079439	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:38079439C>A	ENST00000401069.1	-	6	1274	c.562G>T	c.(562-564)Gct>Tct	p.A188S	RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401068.1_Missense_Mutation_p.A188S|RSPO1_ENST00000373059.1_Missense_Mutation_p.A161S|RSPO1_ENST00000356545.2_Missense_Mutation_p.A188S	NM_001242908.1	NP_001229837.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	188	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				canonical Wnt signaling pathway (GO:0060070)|male meiosis (GO:0007140)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of gene expression (GO:0010468)|regulation of male germ cell proliferation (GO:2000254)|regulation of receptor internalization (GO:0002090)	extracellular space (GO:0005615)|nucleus (GO:0005634)	G-protein coupled receptor binding (GO:0001664)|heparin binding (GO:0008201)|receptor binding (GO:0005102)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAGCAGGCAGCATGGTCCCCC	0.667																																					GBM(122;680 2230 27822 42821)	ENST00000356545.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12						c.(562-564)Gct>Tct		R-spondin 1							39.0	45.0	43.0					1																	38079439		2080	4219	6299	SO:0001583	missense	284654				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding	g.chr1:38079439C>A	AK098225	CCDS41304.1, CCDS55590.1, CCDS55591.1	1p34.2	2014-01-30	2011-06-29		ENSG00000169218	ENSG00000169218		"""Endogenous ligands"""	21679	protein-coding gene	gene with protein product		609595	"""R-spondin homolog (Xenopus laevis)"""				Standard	NM_001038633		Approved	FLJ40906, RSPONDIN	uc001cbm.2	Q2MKA7	OTTHUMG00000004321	ENST00000401069.1:c.562G>T	1.37:g.38079439C>A	ENSP00000383847:p.Ala188Ser					RSPO1_ENST00000401068.1_Missense_Mutation_p.A188S|RSPO1_ENST00000401069.1_Missense_Mutation_p.A188S|RSPO1_ENST00000401070.1_Intron|RSPO1_ENST00000401071.2_Intron|RSPO1_ENST00000373059.1_Missense_Mutation_p.A161S	p.A188S	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN			7	1349	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	188			TSP type-1.		A2A420|Q0H8S6|Q14C72|Q5T0F2|Q8N7L5	Missense_Mutation	SNP	ENST00000401069.1	37	c.562G>T	CCDS41304.1	.	.	.	.	.	.	.	.	.	.	C	1.451	-0.564931	0.03939	.	.	ENSG00000169218	ENST00000373059;ENST00000356545;ENST00000401069;ENST00000401068	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.75	-11.5	0.00074	.	0.866962	0.10426	N	0.676059	T	0.39118	0.1066	N	0.05414	-0.055	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.22906	-1.0203	10	0.05721	T	0.95	.	8.3442	0.32263	0.2735:0.2041:0.0:0.5224	.	161;188	Q2MKA7-2;Q2MKA7	.;RSPO1_HUMAN	S	161;188;188;188	ENSP00000362150:A161S;ENSP00000348944:A188S;ENSP00000383847:A188S;ENSP00000383846:A188S	ENSP00000348944:A188S	A	-	1	0	RSPO1	37852026	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.616000	0.02053	-2.135000	0.00811	-0.152000	0.13540	GCT		0.667	RSPO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012477.2	NM_173640		17	61	1	0	1.15088e-07	1	1.25023e-07	17	61				
TMEM252	169693	broad.mit.edu	37	9	71152264	71152264	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:71152264C>T	ENST00000377311.3	-	2	476	c.424G>A	c.(424-426)Gag>Aag	p.E142K		NM_153237.1	NP_694969.1	Q8N6L7	TM252_HUMAN	transmembrane protein 252	142						integral component of membrane (GO:0016021)											GGTGGGGCCTCTGGGTGGGAG	0.567																																						ENST00000377311.3																			0											c.(424-426)Gag>Aag		transmembrane protein 252							59.0	61.0	61.0					9																	71152264		2203	4300	6503	SO:0001583	missense	169693							g.chr9:71152264C>T	BC029780	CCDS35040.1	9q21.13	2012-07-19	2012-07-19	2012-07-19	ENSG00000181778	ENSG00000181778			28537	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 71"""	C9orf71		12477932	Standard	NM_153237		Approved	MGC34760	uc004agt.3	Q8N6L7	OTTHUMG00000019967	ENST00000377311.3:c.424G>A	9.37:g.71152264C>T	ENSP00000366528:p.Glu142Lys						p.E142K	NM_153237.1	NP_694969.1					2	476	-									Missense_Mutation	SNP	ENST00000377311.3	37	c.424G>A	CCDS35040.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.119894	0.77323	.	.	ENSG00000181778	ENST00000377311	.	.	.	5.72	5.72	0.89469	.	0.130008	0.48767	D	0.000175	T	0.78748	0.4332	M	0.71581	2.175	0.43617	D	0.995992	D	0.76494	0.999	D	0.69479	0.964	T	0.79706	-0.1691	9	0.66056	D	0.02	-24.0116	18.6467	0.91413	0.0:1.0:0.0:0.0	.	142	Q8N6L7	CI071_HUMAN	K	142	.	ENSP00000366528:E142K	E	-	1	0	C9orf71	70342084	0.994000	0.37717	0.986000	0.45419	0.244000	0.25665	4.857000	0.62939	2.711000	0.92665	0.655000	0.94253	GAG		0.567	TMEM252-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052551.1	NM_153237		26	52	0	0	0	1	0	26	52				
GDF15	9518	broad.mit.edu	37	19	18497036	18497036	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:18497036C>G	ENST00000252809.3	+	1	69	c.37C>G	c.(37-39)Cag>Gag	p.Q13E	MIR3189_ENST00000578735.1_RNA	NM_004864.2	NP_004855.2	Q99988	GDF15_HUMAN	growth differentiation factor 15	13					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						GAATGGCTCTCAGATGCTCCT	0.642																																						ENST00000595973.1																			0				kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						c.(37-39)Cag>Gag		growth differentiation factor 15							49.0	52.0	51.0					19																	18497036		2203	4300	6503	SO:0001583	missense	9518				cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity	g.chr19:18497036C>G	BC008962	CCDS12376.1	19p13.11	2008-05-14				ENSG00000130513			30142	protein-coding gene	gene with protein product	"""prostate differentiation factor"""	605312				11895857, 9593718	Standard	NM_004864		Approved	PLAB, MIC-1, PDF, MIC1, NAG-1, PTGFB	uc002niv.2	Q99988		ENST00000252809.3:c.37C>G	19.37:g.18497036C>G	ENSP00000252809:p.Gln13Glu					GDF15_ENST00000252809.3_Missense_Mutation_p.Q13E	p.Q13E			Q99988	GDF15_HUMAN			2	588	+			13					O14629|P78360|Q9BWA0|Q9NRT0	Missense_Mutation	SNP	ENST00000252809.3	37	c.37C>G	CCDS12376.1	.	.	.	.	.	.	.	.	.	.	C	9.507	1.104744	0.20632	.	.	ENSG00000130513	ENST00000252809	T	0.80994	-1.44	4.07	0.485	0.16830	.	4.517450	0.01149	N	0.006368	T	0.67776	0.2929	N	0.24115	0.695	0.09310	N	1	B	0.19073	0.033	B	0.13407	0.009	T	0.50701	-0.8797	10	0.23891	T	0.37	-0.5647	4.766	0.13132	0.0:0.5655:0.2085:0.226	.	13	Q99988	GDF15_HUMAN	E	13	ENSP00000252809:Q13E	ENSP00000252809:Q13E	Q	+	1	0	GDF15	18358036	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	0.033000	0.13754	0.280000	0.22209	0.313000	0.20887	CAG		0.642	GDF15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466340.2	NM_004864		18	51	0	0	0	1	0	18	51				
EED	8726	broad.mit.edu	37	11	85961378	85961378	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:85961378G>A	ENST00000263360.6	+	2	841	c.155G>A	c.(154-156)cGc>cAc	p.R52H	EED_ENST00000528180.1_Missense_Mutation_p.R52H|EED_ENST00000351625.6_Missense_Mutation_p.R52H|EED_ENST00000327320.4_Missense_Mutation_p.R52H	NM_003797.3	NP_003788.2	O75530	EED_HUMAN	embryonic ectoderm development	52					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K27 methylation (GO:0061087)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|histone methyltransferase activity (GO:0042054)|identical protein binding (GO:0042802)			haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)				AACACTGAACGCCCTGATACA	0.378																																						ENST00000263360.6																			0				haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	21						c.(154-156)cGc>cAc		embryonic ectoderm development							112.0	99.0	104.0					11																	85961378		2203	4299	6502	SO:0001583	missense	8726				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|identical protein binding	g.chr11:85961378G>A	AF078933	CCDS8273.1, CCDS8274.1	11q14.2-q22.3	2013-01-10			ENSG00000074266	ENSG00000074266		"""WD repeat domain containing"""	3188	protein-coding gene	gene with protein product	"""WD protein associating with integrin cytoplasmic tails 1"""	605984				9765275, 9806832	Standard	NM_003797		Approved	WAIT-1, HEED	uc001pbp.3	O75530	OTTHUMG00000167209	ENST00000263360.6:c.155G>A	11.37:g.85961378G>A	ENSP00000263360:p.Arg52His					EED_ENST00000351625.6_Missense_Mutation_p.R52H|EED_ENST00000528180.1_Missense_Mutation_p.R52H|EED_ENST00000327320.4_Missense_Mutation_p.R52H	p.R52H	NM_003797.3	NP_003788.2	O75530	EED_HUMAN			2	841	+		Acute lymphoblastic leukemia(157;7.24e-07)|all_hematologic(158;0.00092)	52					A8K7V5|O00149|Q6NTH2|Q7LDA5|Q7LDG8|Q86VV2|Q9UNY7	Missense_Mutation	SNP	ENST00000263360.6	37	c.155G>A	CCDS8273.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.117780	0.77323	.	.	ENSG00000074266	ENST00000263360;ENST00000528180;ENST00000351625;ENST00000327320;ENST00000537092	T;D;T;T	0.81908	-1.04;-1.55;-0.97;-1.0	4.6	3.68	0.42216	.	0.000000	0.85682	D	0.000000	D	0.88235	0.6382	M	0.61703	1.905	0.80722	D	1	D;D;D;D	0.89917	1.0;0.957;0.999;1.0	D;P;P;D	0.69824	0.966;0.513;0.845;0.925	D	0.87069	0.2158	9	.	.	.	-3.4842	12.7938	0.57549	0.0807:0.0:0.9193:0.0	.	52;52;52;52	O75530-3;E9PJK2;O75530-2;O75530	.;.;.;EED_HUMAN	H	52	ENSP00000263360:R52H;ENSP00000431778:R52H;ENSP00000338186:R52H;ENSP00000315587:R52H	.	R	+	2	0	EED	85639026	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.705000	0.98719	0.913000	0.36797	0.585000	0.79938	CGC		0.378	EED-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393733.1	NM_003797		23	71	0	0	0	1	0	23	71				
HGD	3081	broad.mit.edu	37	3	120365178	120365178	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:120365178C>A	ENST00000283871.5	-	9	1044	c.585G>T	c.(583-585)gaG>gaT	p.E195D		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	195					cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	homogentisate 1,2-dioxygenase activity (GO:0004411)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		AGCCCCTGGTCTCCTCAAAGA	0.473																																						ENST00000283871.5																			0				cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25						c.(583-585)gaG>gaT		homogentisate 1,2-dioxygenase							124.0	115.0	118.0					3																	120365178		2203	4300	6503	SO:0001583	missense	3081				L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding	g.chr3:120365178C>A		CCDS3000.1	3q	2010-04-27	2010-04-27		ENSG00000113924	ENSG00000113924	1.13.11.5		4892	protein-coding gene	gene with protein product	"""homogentisate oxidase"""	607474	"""homogentisate 1,2-dioxygenase (homogentisate oxidase)"""	AKU		8188241	Standard	NM_000187		Approved	HGO	uc003edw.3	Q93099	OTTHUMG00000159441	ENST00000283871.5:c.585G>T	3.37:g.120365178C>A	ENSP00000283871:p.Glu195Asp						p.E195D	NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN		GBM - Glioblastoma multiforme(114;0.158)	9	1044	-			195					A8K417|B2R8Z0	Missense_Mutation	SNP	ENST00000283871.5	37	c.585G>T	CCDS3000.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.57|15.57	2.872753|2.872753	0.51695|0.51695	.|.	.|.	ENSG00000113924|ENSG00000113924	ENST00000283871|ENST00000475447;ENST00000494453	D|.	0.99070|.	-5.39|.	5.91|5.91	5.91|5.91	0.95273|0.95273	Cupin, RmlC-type (1);|.	0.049145|.	0.85682|.	D|.	0.000000|.	T|T	0.67524|0.67524	0.2902|0.2902	L|L	0.43152|0.43152	1.355|1.355	0.48135|0.48135	D|D	0.99959|0.99959	B|.	0.29162|.	0.235|.	B|.	0.30646|.	0.118|.	T|T	0.61874|0.61874	-0.6973|-0.6973	10|5	0.42905|.	T|.	0.14|.	-14.1213|-14.1213	17.7921|17.7921	0.88555|0.88555	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	195|.	Q93099|.	HGD_HUMAN|.	D|I	195|39;2	ENSP00000283871:E195D|.	ENSP00000283871:E195D|.	E|R	-|-	3|2	2|0	HGD|HGD	121847868|121847868	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	1.423000|1.423000	0.34837|0.34837	2.802000|2.802000	0.96397|0.96397	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.473	HGD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355410.1			23	78	1	0	7.87624e-14	1	9.14856e-14	23	78				
PTHLH	5744	broad.mit.edu	37	12	28122338	28122338	+	Silent	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:28122338G>A	ENST00000545234.1	-	4	630	c.90C>T	c.(88-90)ctC>ctT	p.L30L	PTHLH_ENST00000354417.3_Silent_p.L30L|PTHLH_ENST00000539239.1_Silent_p.L30L|PTHLH_ENST00000395868.3_Silent_p.L30L|PTHLH_ENST00000201015.4_Silent_p.L30L|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000535992.1_Silent_p.L30L|PTHLH_ENST00000538310.1_Silent_p.L30L|PTHLH_ENST00000395872.1_Silent_p.L30L			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	30					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GGCGGCGGCTGAGACCCTCCA	0.711																																						ENST00000535992.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10						c.(88-90)ctC>ctT		parathyroid hormone-like hormone							10.0	11.0	11.0					12																	28122338		2162	4238	6400	SO:0001819	synonymous_variant	5744				activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding	g.chr12:28122338G>A		CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.90C>T	12.37:g.28122338G>A						PTHLH_ENST00000545234.1_Silent_p.L30L|PTHLH_ENST00000354417.3_Silent_p.L30L|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000395872.1_Silent_p.L30L|PTHLH_ENST00000201015.4_Silent_p.L30L|PTHLH_ENST00000395868.3_Silent_p.L30L|PTHLH_ENST00000538310.1_Silent_p.L30L|PTHLH_ENST00000539239.1_Silent_p.L30L	p.L30L			P12272	PTHR_HUMAN			2	436	-	Lung SC(9;0.184)		30					Q15251|Q6FH74	Silent	SNP	ENST00000545234.1	37	c.90C>T	CCDS44853.1																																																																																				0.711	PTHLH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402913.1	NM_198965		5	12	0	0	0	1	0	5	12				
ETV2	2116	broad.mit.edu	37	19	36135623	36135623	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:36135623C>T	ENST00000403402.1	+	6	1204	c.898C>T	c.(898-900)Cgc>Tgc	p.R300C	ETV2_ENST00000479824.1_Missense_Mutation_p.R207C|ETV2_ENST00000379023.4_Missense_Mutation_p.R113C|ETV2_ENST00000402764.2_Missense_Mutation_p.R300C|ETV2_ENST00000379026.2_Missense_Mutation_p.R328C			O00321	ETV2_HUMAN	ets variant 2	300					blastocyst development (GO:0001824)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway involved in mesodermal cell fate specification (GO:0060803)|cell differentiation (GO:0030154)|erythrocyte differentiation (GO:0030218)|Notch signaling pathway (GO:0007219)|placenta development (GO:0001890)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of mesoderm development (GO:2000382)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			lung(2)	2	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCGGGGCCTTCGCTACTACTA	0.662																																						ENST00000379026.2																			0				lung(2)	2						c.(982-984)Cgc>Tgc		ets variant 2							28.0	27.0	27.0					19																	36135623		2202	4294	6496	SO:0001583	missense	2116						sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:36135623C>T	AF000671	CCDS32995.2, CCDS74341.1	19q13.11	2008-09-12	2008-09-12		ENSG00000105672	ENSG00000105672			3491	protein-coding gene	gene with protein product		609358	"""ets variant gene 2"""			1340465	Standard	XM_005258654		Approved	ER71	uc002oar.2	O00321	OTTHUMG00000150545	ENST00000403402.1:c.898C>T	19.37:g.36135623C>T	ENSP00000385369:p.Arg300Cys					ETV2_ENST00000379023.4_Missense_Mutation_p.R113C|ETV2_ENST00000479824.1_Missense_Mutation_p.R207C|ETV2_ENST00000403402.1_Missense_Mutation_p.R300C|ETV2_ENST00000402764.2_Missense_Mutation_p.R300C	p.R328C			B9EIN1	B9EIN1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	1421	+	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		300					A6NFN5|B3KUL0|B9EIN1|Q9UEA0	Missense_Mutation	SNP	ENST00000403402.1	37	c.982C>T	CCDS32995.2	.	.	.	.	.	.	.	.	.	.	C	36	5.667659	0.96745	.	.	ENSG00000105672	ENST00000379026;ENST00000402764;ENST00000379023;ENST00000403402	T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62	4.63	4.63	0.57726	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.086995	0.44902	D	0.000411	D	0.87641	0.6228	M	0.93594	3.435	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.90824	0.4711	10	0.87932	D	0	.	15.0213	0.71632	0.0:1.0:0.0:0.0	.	113;299;328;300	Q3KNT2;O00321;A6NFN5;B9EIN1	.;ETV2_HUMAN;.;.	C	328;300;113;300	ENSP00000368312:R328C;ENSP00000384524:R300C;ENSP00000368309:R113C;ENSP00000385369:R300C	ENSP00000368309:R113C	R	+	1	0	ETV2	40827463	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.283000	0.78640	2.400000	0.81607	0.505000	0.49811	CGC		0.662	ETV2-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318848.2	XM_209182		15	36	0	0	0	1	0	15	36				
PCDHB12	56124	broad.mit.edu	37	5	140589766	140589766	+	Silent	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:140589766C>A	ENST00000239450.2	+	1	1476	c.1287C>A	c.(1285-1287)ccC>ccA	p.P429P	PCDHB12_ENST00000541609.1_Silent_p.P92P	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	429	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGGGACCCCCAGGCTAAAAA	0.547																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1285-1287)ccC>ccA									94.0	91.0	92.0					5																	140589766		2203	4300	6503	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140589766C>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1287C>A	5.37:g.140589766C>A						PCDHB12_ENST00000541609.1_Silent_p.P92P	p.P429P	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1476	+			429			Cadherin 4.		B4DDU1	Silent	SNP	ENST00000239450.2	37	c.1287C>A	CCDS4254.1																																																																																				0.547	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		98	67	1	0	2.1089e-46	1	2.72175e-46	98	67				
CHKB	1120	broad.mit.edu	37	22	51018459	51018459	+	Missense_Mutation	SNP	C	C	T	rs374544105		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:51018459C>T	ENST00000406938.2	-	8	1088	c.871G>A	c.(871-873)Gag>Aag	p.E291K	CHKB-CPT1B_ENST00000453634.1_5'Flank|CHKB-CPT1B_ENST00000452668.1_5'Flank|CPT1B_ENST00000395650.2_5'Flank|CPT1B_ENST00000457250.1_5'Flank|CHKB-AS1_ENST00000380711.3_RNA|CPT1B_ENST00000405237.3_5'Flank|CPT1B_ENST00000434492.2_5'Flank|CHKB_ENST00000463053.1_5'Flank|CPT1B_ENST00000440709.1_5'Flank|CPT1B_ENST00000312108.7_5'Flank|CPT1B_ENST00000360719.2_5'Flank	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	291					CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|muscle organ development (GO:0007517)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline kinase activity (GO:0004103)|ethanolamine kinase activity (GO:0004305)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	GGCCATTCCTCGTGAGTATAA	0.527																																						ENST00000406938.2																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15						c.(871-873)Gag>Aag		choline kinase beta	Choline(DB00122)	C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	97.0	102.0	100.0		871	4.1	1.0	22		100	0,8600		0,0,4300	no	missense	CHKB	NM_005198.4	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	291/396	51018459	1,13005	2203	4300	6503	SO:0001583	missense	1120				phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity	g.chr22:51018459C>T	AB029886	CCDS14099.1	22q13.33	2011-02-16	2004-04-19	2004-04-19	ENSG00000100288	ENSG00000100288			1938	protein-coding gene	gene with protein product		612395	"""choline kinase-like"""	CHKL		9224698, 15003397	Standard	NM_005198		Approved	CHETK	uc003bmv.3	Q9Y259	OTTHUMG00000150275	ENST00000406938.2:c.871G>A	22.37:g.51018459C>T	ENSP00000384400:p.Glu291Lys						p.E291K	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	8	1088	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	291					A0PJM6|Q13388	Missense_Mutation	SNP	ENST00000406938.2	37	c.871G>A	CCDS14099.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.753982	0.49362	2.27E-4	0.0	ENSG00000100288	ENST00000406938	T	0.58940	0.3	5.11	4.08	0.47627	Protein kinase-like domain (1);Choline/ethanolamine kinase (1);	0.219710	0.44097	D	0.000482	T	0.47173	0.1431	L	0.53249	1.67	0.28912	N	0.892661	D	0.54601	0.967	B	0.42087	0.375	T	0.44772	-0.9306	10	0.18710	T	0.47	-12.9896	8.3025	0.32023	0.0:0.8176:0.0:0.1824	.	291	Q9Y259	CHKB_HUMAN	K	291	ENSP00000384400:E291K	ENSP00000384400:E291K	E	-	1	0	CHKB	49365325	0.565000	0.26610	0.981000	0.43875	0.993000	0.82548	1.047000	0.30367	2.375000	0.81037	0.655000	0.94253	GAG		0.527	CHKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317267.3	NM_005198		21	77	0	0	0	1	0	21	77				
C19orf45	374877	broad.mit.edu	37	19	7569253	7569253	+	Silent	SNP	G	G	A	rs146786010	byFrequency	TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:7569253G>A	ENST00000361664.2	+	4	879	c.738G>A	c.(736-738)tcG>tcA	p.S246S	CTD-2207O23.12_ENST00000599312.1_5'Flank	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	246										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CAACGTGTTCGGAGCAGAAAC	0.597													g|||	2	0.000399361	0.0015	0.0	5008	,	,		16107	0.0		0.0	False		,,,				2504	0.0					ENST00000361664.2																			0				endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						c.(736-738)tcG>tcA		chromosome 19 open reading frame 45		G		8,4398	14.3+/-33.2	0,8,2195	60.0	62.0	61.0		738	-8.8	0.0	19	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C19orf45	NM_198534.2		0,9,6494	AA,AG,GG		0.0116,0.1816,0.0692		246/506	7569253	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	374877							g.chr19:7569253G>A	BC029824	CCDS12179.2	19p13.2	2008-02-05			ENSG00000198723	ENSG00000198723			24745	protein-coding gene	gene with protein product						12477932	Standard	NM_198534		Approved	FLJ35784	uc002mgm.2	Q8NA69	OTTHUMG00000157183	ENST00000361664.2:c.738G>A	19.37:g.7569253G>A							p.S246S	NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN			4	879	+			246					Q8N115	Silent	SNP	ENST00000361664.2	37	c.738G>A	CCDS12179.2																																																																																				0.597	C19orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347808.1	NM_198534		41	107	0	0	0	1	0	41	107				
KIAA1598	57698	broad.mit.edu	37	10	118713579	118713579	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr10:118713579G>A	ENST00000355371.4	-	5	907	c.410C>T	c.(409-411)tCa>tTa	p.S137L	KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Missense_Mutation_p.S137L|KIAA1598_ENST00000392901.4_Missense_Mutation_p.S77L|KIAA1598_ENST00000260777.10_Missense_Mutation_p.S137L	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	137					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		ACACTGTACTGAGACACAAGT	0.418																																						ENST00000355371.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10						c.(409-411)tCa>tTa		KIAA1598							127.0	113.0	118.0					10																	118713579		2203	4300	6503	SO:0001583	missense	57698				axon guidance	axon		g.chr10:118713579G>A	BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.410C>T	10.37:g.118713579G>A	ENSP00000347532:p.Ser137Leu					KIAA1598_ENST00000392901.4_Missense_Mutation_p.S77L|KIAA1598_ENST00000392903.2_Missense_Mutation_p.S137L|KIAA1598_ENST00000260777.10_Missense_Mutation_p.S137L|KIAA1598_ENST00000497044.1_5'UTR	p.S137L	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN		all cancers(201;0.00494)	5	907	-			137					A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	37	c.410C>T	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	G	33	5.194899	0.94960	.	.	ENSG00000187164	ENST00000392903;ENST00000260777;ENST00000355371;ENST00000392901	T;T;T;T	0.76448	2.99;1.62;2.99;-1.02	5.87	5.87	0.94306	.	0.122569	0.56097	D	0.000023	D	0.82701	0.5094	L	0.36672	1.1	0.58432	D	0.999995	D;D;D	0.89917	1.0;0.989;1.0	D;D;D	0.83275	0.996;0.985;0.996	T	0.74592	-0.3614	10	0.10377	T	0.69	-11.5102	20.5827	0.99408	0.0:0.0:1.0:0.0	.	137;137;107	A0MZ66;A0MZ66-2;A0MZ66-6	SHOT1_HUMAN;.;.	L	137;137;137;77	ENSP00000376636:S137L;ENSP00000260777:S137L;ENSP00000347532:S137L;ENSP00000376635:S77L	ENSP00000260777:S137L	S	-	2	0	KIAA1598	118703569	1.000000	0.71417	0.944000	0.38274	0.992000	0.81027	7.103000	0.77014	2.941000	0.99782	0.655000	0.94253	TCA		0.418	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018330		12	42	0	0	0	1	0	12	42				
TLN1	7094	broad.mit.edu	37	9	35714267	35714267	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:35714267G>A	ENST00000314888.9	-	24	3442	c.3089C>T	c.(3088-3090)gCg>gTg	p.A1030V	TLN1_ENST00000540444.1_Missense_Mutation_p.A1030V	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1030					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTCAGCCAGCGCGGTGCCCAG	0.577																																						ENST00000314888.9																			0				NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85						c.(3088-3090)gCg>gTg		talin 1							57.0	54.0	55.0					9																	35714267		2203	4300	6503	SO:0001583	missense	7094				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding	g.chr9:35714267G>A	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.3089C>T	9.37:g.35714267G>A	ENSP00000316029:p.Ala1030Val					TLN1_ENST00000540444.1_Missense_Mutation_p.A1030V	p.A1030V	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		24	3442	-	all_epithelial(49;0.167)		1030					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	c.3089C>T	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168226	0.57476	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.72282	-0.63;-0.64	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	M	0.74258	2.255	0.58432	D	0.999996	P	0.47350	0.894	B	0.41946	0.371	T	0.77843	-0.2437	10	0.87932	D	0	-14.8889	15.7494	0.77972	0.0:0.1357:0.8643:0.0	.	1030	Q9Y490	TLN1_HUMAN	V	1030	ENSP00000316029:A1030V;ENSP00000442981:A1030V	ENSP00000316029:A1030V	A	-	2	0	TLN1	35704267	0.990000	0.36364	0.218000	0.23776	0.485000	0.33311	3.883000	0.56168	2.808000	0.96608	0.655000	0.94253	GCG		0.577	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289		32	65	0	0	0	1	0	32	65				
NLRP9	338321	broad.mit.edu	37	19	56220391	56220391	+	Missense_Mutation	SNP	C	C	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:56220391C>G	ENST00000332836.2	-	9	2890	c.2863G>C	c.(2863-2865)Gat>Cat	p.D955H	CTD-2611O12.6_ENST00000600582.1_RNA|CTD-2611O12.7_ENST00000597680.1_RNA|CTD-2611O12.8_ENST00000596293.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	955						cytoplasm (GO:0005737)	ATP binding (GO:0005524)			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTTTCTTCATCAAAGCCAGAT	0.383																																						ENST00000332836.2																			0				NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74						c.(2863-2865)Gat>Cat		NLR family, pyrin domain containing 9							80.0	81.0	81.0					19																	56220391		2203	4300	6503	SO:0001583	missense	338321					cytoplasm	ATP binding	g.chr19:56220391C>G	AY154464	CCDS12934.1	19q13.43	2006-12-08	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22941	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 9"""	609663	"""NACHT, leucine rich repeat and PYD containing 9"""	NALP9		12563287	Standard	NM_176820		Approved	NOD6, PAN12, CLR19.1	uc002qly.3	Q7RTR0		ENST00000332836.2:c.2863G>C	19.37:g.56220391C>G	ENSP00000331857:p.Asp955His					CTD-2611O12.8_ENST00000596293.1_RNA	p.D955H	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN		GBM - Glioblastoma multiforme(193;0.123)	9	2890	-		Colorectal(82;0.000133)|Ovarian(87;0.133)	955					B2RN12|Q86W27	Missense_Mutation	SNP	ENST00000332836.2	37	c.2863G>C	CCDS12934.1	.	.	.	.	.	.	.	.	.	.	C	10.72	1.430049	0.25726	.	.	ENSG00000185792	ENST00000332836	T	0.55760	0.5	2.65	0.512	0.16994	.	.	.	.	.	T	0.62974	0.2472	M	0.75615	2.305	0.09310	N	1	D	0.69078	0.997	P	0.61800	0.894	T	0.51012	-0.8759	9	0.62326	D	0.03	.	4.8112	0.13344	0.0:0.6985:0.0:0.3015	.	955	Q7RTR0	NALP9_HUMAN	H	955	ENSP00000331857:D955H	ENSP00000331857:D955H	D	-	1	0	NLRP9	60912203	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.473000	0.22132	0.221000	0.20879	-0.136000	0.14681	GAT		0.383	NLRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453653.1	NM_176820		8	22	0	0	0	1	0	8	22				
ZNF835	90485	broad.mit.edu	37	19	57176541	57176541	+	Missense_Mutation	SNP	A	A	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:57176541A>T	ENST00000537055.2	-	2	257	c.26T>A	c.(25-27)cTc>cAc	p.L9H		NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835	9					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						TGCGCCCTGGAGGGCGACGCT	0.532																																						ENST00000537055.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						c.(25-27)cTc>cAc		zinc finger protein 835							63.0	65.0	64.0					19																	57176541		1970	4145	6115	SO:0001583	missense	90485							g.chr19:57176541A>T	AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0		ENST00000537055.2:c.26T>A	19.37:g.57176541A>T	ENSP00000444747:p.Leu9His						p.L9H	NM_001005850.2	NP_001005850.2					2	257	-								B7Z5Y0|G3V1S0	Missense_Mutation	SNP	ENST00000537055.2	37	c.26T>A	CCDS56105.1	.	.	.	.	.	.	.	.	.	.	A	13.07	2.127865	0.37533	.	.	ENSG00000127903	ENST00000342088;ENST00000537055	T	0.07688	3.17	2.82	-3.11	0.05299	.	.	.	.	.	T	0.06690	0.0171	N	0.14661	0.345	0.09310	N	1	D	0.63880	0.993	P	0.49999	0.628	T	0.33369	-0.9871	9	0.36615	T	0.2	.	8.6624	0.34101	0.2404:0.0:0.7596:0.0	.	31	Q9Y2P0	ZN835_HUMAN	H	31;9	ENSP00000444747:L9H	ENSP00000341756:L31H	L	-	2	0	ZNF835	61868353	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-0.426000	0.07008	-0.705000	0.05035	0.459000	0.35465	CTC		0.532	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459800.1	NM_001005850		8	54	0	0	0	1	0	8	54				
CHST4	10164	broad.mit.edu	37	16	71571477	71571477	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:71571477G>T	ENST00000338482.5	+	3	1240	c.897G>T	c.(895-897)ttG>ttT	p.L299F	RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000539698.3_Missense_Mutation_p.L299F|CHST4_ENST00000572450.1_Missense_Mutation_p.L299F|ZNF19_ENST00000568446.1_Intron			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	299					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGGAATTCTTGCCCCATCTTC	0.567											OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000338482.5																			0				cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(895-897)ttG>ttT		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4							98.0	81.0	87.0					16																	71571477		2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71571477G>T	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.897G>T	16.37:g.71571477G>T	ENSP00000341206:p.Leu299Phe		OREG0023923	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1131	CHST4_ENST00000539698.3_Missense_Mutation_p.L299F|CHST4_ENST00000572450.1_Missense_Mutation_p.L299F|ZNF19_ENST00000568446.1_Intron|RP11-510M2.9_ENST00000572693.1_RNA	p.L299F			Q8NCG5	CHST4_HUMAN			3	1240	+			299					Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.897G>T	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	G	10.67	1.415534	0.25552	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.82433	-1.61;-1.61	6.02	5.04	0.67666	Sulfotransferase domain (1);	0.229512	0.35708	N	0.003035	T	0.82051	0.4953	M	0.73598	2.24	0.34708	D	0.727418	B	0.21309	0.054	B	0.30105	0.111	D	0.83688	0.0175	10	0.66056	D	0.02	-8.9183	7.4845	0.27425	0.0814:0.0:0.7289:0.1897	.	299	Q8NCG5	CHST4_HUMAN	F	299	ENSP00000341206:L299F;ENSP00000441204:L299F	ENSP00000341206:L299F	L	+	3	2	CHST4	70128978	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	0.726000	0.25984	1.473000	0.48159	0.655000	0.94253	TTG		0.567	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769		11	60	1	0	1.58986e-06	1	1.67881e-06	11	60				
UGGT2	55757	broad.mit.edu	37	13	96546844	96546844	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr13:96546844C>A	ENST00000376747.3	-	24	2897	c.2827G>T	c.(2827-2829)Gat>Tat	p.D943Y		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	943					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AATGTGACATCATATCGAGAT	0.343																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(2827-2829)Gat>Tat		UDP-glucose glycoprotein glucosyltransferase 2							147.0	129.0	135.0					13																	96546844		2203	4300	6503	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96546844C>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2827G>T	13.37:g.96546844C>A	ENSP00000365938:p.Asp943Tyr						p.D943Y	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			24	2897	-			943					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2827G>T	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	17.33	3.362736	0.61403	.	.	ENSG00000102595	ENST00000376747	T	0.32753	1.44	4.64	2.75	0.32379	.	0.352416	0.31884	N	0.006910	T	0.52581	0.1743	M	0.84219	2.685	0.80722	D	1	D;P	0.67145	0.996;0.844	D;P	0.67900	0.954;0.694	T	0.56757	-0.7926	10	0.66056	D	0.02	-12.7204	9.4082	0.38475	0.0:0.7754:0.1445:0.0801	.	943;943	Q9NV86;Q9NYU1	.;UGGG2_HUMAN	Y	943	ENSP00000365938:D943Y	ENSP00000365938:D943Y	D	-	1	0	UGGT2	95344845	0.452000	0.25713	0.209000	0.23619	0.772000	0.43724	1.063000	0.30567	1.085000	0.41206	0.650000	0.86243	GAT		0.343	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		19	65	1	0	7.45023e-12	1	8.45853e-12	19	65				
TRMU	55687	broad.mit.edu	37	22	46749736	46749736	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr22:46749736A>G	ENST00000290846.4	+	8	1185	c.845A>G	c.(844-846)aAg>aGg	p.K282R	TRMU_ENST00000381019.3_Missense_Mutation_p.K282R	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	282					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GTGGTGGAGAAGGACAGCGTC	0.587																																						ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(844-846)aAg>aGg		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							185.0	151.0	162.0					22																	46749736		2203	4300	6503	SO:0001583	missense	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46749736A>G	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.845A>G	22.37:g.46749736A>G	ENSP00000290846:p.Lys282Arg					TRMU_ENST00000381019.3_Missense_Mutation_p.K282R	p.K282R	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	8	1185	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	282					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	ENST00000290846.4	37	c.845A>G	CCDS14075.1	.	.	.	.	.	.	.	.	.	.	A	13.86	2.362792	0.41902	.	.	ENSG00000100416	ENST00000290846;ENST00000381019	T;T	0.75154	-0.91;-0.91	4.99	4.99	0.66335	Adenine nucleotide alpha hydrolase-like domains (1);	0.000000	0.85682	D	0.000000	T	0.82231	0.4992	M	0.87682	2.9	0.80722	D	1	P;B;B;B;B	0.38300	0.626;0.423;0.204;0.326;0.254	B;B;B;B;P	0.45506	0.204;0.165;0.058;0.091;0.483	D	0.85452	0.1161	10	0.87932	D	0	-16.1787	14.3515	0.66705	1.0:0.0:0.0:0.0	.	282;128;128;282;282	B4DHM1;O75648-3;O75648-4;O75648-2;O75648	.;.;.;.;MTU1_HUMAN	R	282	ENSP00000290846:K282R;ENSP00000370407:K282R	ENSP00000290846:K282R	K	+	2	0	TRMU	45128400	1.000000	0.71417	1.000000	0.80357	0.075000	0.17131	8.306000	0.89962	1.860000	0.53959	0.528000	0.53228	AAG		0.587	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		32	85	0	0	0	1	0	32	85				
TXNDC15	79770	broad.mit.edu	37	5	134223748	134223748	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:134223748C>T	ENST00000358387.4	+	2	1092	c.467C>T	c.(466-468)tCt>tTt	p.S156F	TXNDC15_ENST00000546290.1_Missense_Mutation_p.S133F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	156	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTGGCGGAATCTGACGCAGCC	0.493																																						ENST00000358387.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(466-468)tCt>tTt		thioredoxin domain containing 15							51.0	52.0	51.0					5																	134223748		2203	4300	6503	SO:0001583	missense	79770				cell redox homeostasis	integral to membrane		g.chr5:134223748C>T	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.467C>T	5.37:g.134223748C>T	ENSP00000351157:p.Ser156Phe					TXNDC15_ENST00000546290.1_Missense_Mutation_p.S133F	p.S156F	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	1092	+			156			Thioredoxin.		D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	c.467C>T	CCDS4180.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640889	0.47153	.	.	ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000506916;ENST00000508810;ENST00000546290	T;T	0.48522	0.81;0.82	5.52	3.62	0.41486	Thioredoxin-like fold (1);	0.786227	0.12027	N	0.506369	T	0.25938	0.0632	N	0.08118	0	0.09310	N	1	P	0.38642	0.641	B	0.31751	0.135	T	0.08351	-1.0726	10	0.62326	D	0.03	-0.8846	10.3505	0.43931	0.0:0.7899:0.1357:0.0744	.	156	Q96J42	TXD15_HUMAN	F	140;156;154;139;133	ENSP00000351157:S156F;ENSP00000443942:S133F	ENSP00000351157:S156F	S	+	2	0	TXNDC15	134251647	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.252000	0.32874	1.316000	0.45131	0.591000	0.81541	TCT		0.493	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		17	28	0	0	0	1	0	17	28				
SLC38A2	54407	broad.mit.edu	37	12	46758449	46758449	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:46758449C>A	ENST00000256689.5	-	9	1127	c.683G>T	c.(682-684)tGt>tTt	p.C228F	SLC38A2_ENST00000547252.1_5'UTR|SLC38A2_ENST00000551374.1_Missense_Mutation_p.C66F	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	228					amino acid transport (GO:0006865)|glutamate secretion (GO:0014047)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|sodium ion transport (GO:0006814)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		GAACACCATACACAACAAGGA	0.333																																					Ovarian(9;448 492 8335 28722 40361)	ENST00000256689.5																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						c.(682-684)tGt>tTt		solute carrier family 38, member 2							83.0	95.0	91.0					12																	46758449		2202	4299	6501	SO:0001583	missense	54407				cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:46758449C>A	AB037803	CCDS8749.1	12q13.11	2014-08-12			ENSG00000134294	ENSG00000134294		"""Solute carriers"""	13448	protein-coding gene	gene with protein product		605180				10747860, 17237199	Standard	NM_018976		Approved	SAT2, ATA2, KIAA1382, SNAT2	uc001rpg.3	Q96QD8	OTTHUMG00000169471	ENST00000256689.5:c.683G>T	12.37:g.46758449C>A	ENSP00000256689:p.Cys228Phe					SLC38A2_ENST00000547252.1_5'UTR|SLC38A2_ENST00000551374.1_Missense_Mutation_p.C66F	p.C228F	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)	9	1127	-	Lung SC(27;0.192)|Renal(347;0.236)		228					Q6IA88|Q6ZMG2|Q9HAV3|Q9NVA8|Q9P2G5	Missense_Mutation	SNP	ENST00000256689.5	37	c.683G>T	CCDS8749.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080723	0.76528	.	.	ENSG00000134294	ENST00000256689;ENST00000551374	T;T	0.02121	4.44;4.44	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.09202	0.0227	L	0.60957	1.885	0.80722	D	1	P;D;D	0.76494	0.937;0.996;0.999	P;D;D	0.72625	0.833;0.978;0.972	T	0.45249	-0.9274	10	0.07482	T	0.82	-16.9944	19.2372	0.93866	0.0:1.0:0.0:0.0	.	66;128;228	F8VQW8;Q96QD8-2;Q96QD8	.;.;S38A2_HUMAN	F	228;66	ENSP00000256689:C228F;ENSP00000450406:C66F	ENSP00000256689:C228F	C	-	2	0	SLC38A2	45044716	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.818000	0.86416	2.546000	0.85860	0.460000	0.39030	TGT		0.333	SLC38A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404226.1			30	65	1	0	6.00712e-18	1	7.2566e-18	30	65				
PCDH9	5101	broad.mit.edu	37	13	66879158	66879158	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr13:66879158C>A	ENST00000377865.2	-	4	3477	c.3343G>T	c.(3343-3345)Ggg>Tgg	p.G1115W	PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000544246.1_Missense_Mutation_p.G1115W|PCDH9_ENST00000456367.1_Missense_Mutation_p.G1081W|PCDH9_ENST00000328454.5_Missense_Mutation_p.G1081W			Q9HC56	PCDH9_HUMAN	protocadherin 9	1115					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		CCCAAAGGCCCATCTGCAGAA	0.393																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(3343-3345)Ggg>Tgg		protocadherin 9							35.0	34.0	34.0					13																	66879158		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:66879158C>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3343G>T	13.37:g.66879158C>A	ENSP00000367096:p.Gly1115Trp					PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.G1081W|PCDH9_ENST00000377865.2_Missense_Mutation_p.G1115W|PCDH9_ENST00000456367.1_Missense_Mutation_p.G1081W	p.G1115W	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	5	4034	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1115					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.3343G>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590816	0.66219	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.56444	0.54;0.54;0.46;0.46	6.07	6.07	0.98685	.	0.131606	0.35207	N	0.003375	T	0.53077	0.1774	N	0.22421	0.69	0.54753	D	0.999986	D;D;D	0.57899	0.968;0.981;0.968	P;P;P	0.51550	0.473;0.673;0.473	T	0.47787	-0.9090	10	0.38643	T	0.18	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	1073;1081;1115	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	W	1115;1115;1081;1081	ENSP00000442186:G1115W;ENSP00000367096:G1115W;ENSP00000401699:G1081W;ENSP00000332060:G1081W	ENSP00000332060:G1081W	G	-	1	0	PCDH9	65777159	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	7.463000	0.80869	2.890000	0.99128	0.650000	0.86243	GGG		0.393	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		12	29	1	0	7.93312e-07	1	8.43592e-07	12	29				
NRIP2	83714	broad.mit.edu	37	12	2944011	2944011	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:2944011G>T	ENST00000337508.4	-	1	179	c.139C>A	c.(139-141)Cca>Aca	p.P47T		NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	nuclear receptor interacting protein 2	47					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	aspartic-type endopeptidase activity (GO:0004190)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GCCCCTGCTGGAGGAGTGGGC	0.652																																						ENST00000337508.4																			0				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(139-141)Cca>Aca		nuclear receptor interacting protein 2							77.0	75.0	75.0					12																	2944011		2203	4300	6503	SO:0001583	missense	83714				proteolysis|transcription, DNA-dependent	cytoplasm|nucleus	aspartic-type endopeptidase activity	g.chr12:2944011G>T	AK054740	CCDS8514.1	12p13.33	2008-02-05			ENSG00000053702	ENSG00000053702			23078	protein-coding gene	gene with protein product						11230166	Standard	NM_031474		Approved	DKFZP761G1913	uc001qlc.3	Q9BQI9	OTTHUMG00000130616	ENST00000337508.4:c.139C>A	12.37:g.2944011G>T	ENSP00000337501:p.Pro47Thr						p.P47T	NM_031474.2	NP_113662.1	Q9BQI9	NRIP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000818)		1	179	-			47					A2RRE3|B4DV61	Missense_Mutation	SNP	ENST00000337508.4	37	c.139C>A	CCDS8514.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684833	0.29872	.	.	ENSG00000053702	ENST00000337508;ENST00000546074	.	.	.	3.81	2.87	0.33458	.	82.040100	0.00166	N	0.000000	T	0.43986	0.1272	L	0.46157	1.445	0.09310	N	1	B	0.20550	0.046	B	0.12156	0.007	T	0.18681	-1.0329	9	0.29301	T	0.29	-3.5574	8.0242	0.30427	0.0:0.0:0.7449:0.2551	.	47	Q9BQI9	NRIP2_HUMAN	T	47	.	ENSP00000337501:P47T	P	-	1	0	NRIP2	2814272	0.000000	0.05858	0.069000	0.20011	0.133000	0.20885	-0.086000	0.11233	0.761000	0.33130	0.484000	0.47621	CCA		0.652	NRIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253090.4	NM_031474		63	119	1	0	2.3441e-25	1	2.97445e-25	63	119				
AHNAK2	113146	broad.mit.edu	37	14	105416213	105416213	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:105416213G>T	ENST00000333244.5	-	7	5694	c.5575C>A	c.(5575-5577)Ctc>Atc	p.L1859I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1859						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATGGAGGGGAGGCTCACTTCG	0.637																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5575-5577)Ctc>Atc		AHNAK nucleoprotein 2							126.0	159.0	148.0					14																	105416213		1949	4111	6060	SO:0001583	missense	113146					nucleus		g.chr14:105416213G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5575C>A	14.37:g.105416213G>T	ENSP00000353114:p.Leu1859Ile					AHNAK2_ENST00000557457.1_Intron	p.L1859I	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5694	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1859					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5575C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	12.51	1.958506	0.34565	.	.	ENSG00000185567	ENST00000333244	T	0.00882	5.58	4.51	4.51	0.55191	.	.	.	.	.	T	0.03220	0.0094	M	0.85373	2.75	0.09310	N	1	D	0.56035	0.974	P	0.54499	0.754	T	0.39231	-0.9624	9	0.18710	T	0.47	-14.6581	7.5907	0.28019	0.091:0.1685:0.7405:0.0	.	1859	Q8IVF2	AHNK2_HUMAN	I	1859	ENSP00000353114:L1859I	ENSP00000353114:L1859I	L	-	1	0	AHNAK2	104487258	.	.	0.014000	0.15608	0.003000	0.03518	.	.	2.068000	0.61886	0.556000	0.70494	CTC		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		128	324	1	0	1.19196e-58	1	1.5516e-58	128	324				
USH2A	7399	broad.mit.edu	37	1	216420132	216420132	+	Silent	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:216420132A>G	ENST00000307340.3	-	13	2990	c.2604T>C	c.(2602-2604)tgT>tgC	p.C868C	USH2A_ENST00000366942.3_Silent_p.C868C|USH2A_ENST00000366943.2_Silent_p.C868C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	868	Laminin EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTGCAAGGACATTGTCCTG	0.428										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(2602-2604)tgT>tgC		Usher syndrome 2A (autosomal recessive, mild)							241.0	218.0	226.0					1																	216420132		2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216420132A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2604T>C	1.37:g.216420132A>G		HNSCC(13;0.011)				USH2A_ENST00000307340.3_Silent_p.C868C|USH2A_ENST00000366942.3_Silent_p.C868C	p.C868C			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	2990	-			868			Laminin EGF-like 7.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.2604T>C	CCDS31025.1																																																																																				0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		10	201	0	0	0	1	0	10	201				
GSDMD	79792	broad.mit.edu	37	8	144644483	144644483	+	Silent	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr8:144644483C>T	ENST00000526406.1	+	12	1984	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L	GSDMD_ENST00000262580.4_Silent_p.L367L|GSDMD_ENST00000533063.1_Silent_p.L415L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	367				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861). {ECO:0000305}.	cellular response to extracellular stimulus (GO:0031668)					breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						TGCCGGAACTCGCTATCCCTG	0.692																																						ENST00000526406.1																			0				breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1099-1101)ctC>ctT		gasdermin D							29.0	25.0	27.0					8																	144644483		2159	4257	6416	SO:0001819	synonymous_variant	79792							g.chr8:144644483C>T	AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.1101C>T	8.37:g.144644483C>T						GSDMD_ENST00000533063.1_Silent_p.L415L|GSDMD_ENST00000262580.4_Silent_p.L367L	p.L367L	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN			12	1984	+			367	SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).				D3DWJ9|Q96Q98	Silent	SNP	ENST00000526406.1	37	c.1101C>T	CCDS34956.1	.	.	.	.	.	.	.	.	.	.	C	3.377	-0.127205	0.06795	.	.	ENSG00000104518	ENST00000525208	.	.	.	4.33	-8.66	0.00866	.	.	.	.	.	T	0.25754	0.0627	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21759	-1.0236	4	.	.	.	-8.1566	8.4599	0.32921	0.0792:0.5508:0.2638:0.1061	.	.	.	.	C	63	.	.	R	+	1	0	GSDMD	144715626	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-6.298000	0.00071	-3.987000	0.00084	-0.255000	0.11280	CGC		0.692	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382046.3	NM_024736		5	8	0	0	0	1	0	5	8				
HMCN1	83872	broad.mit.edu	37	1	185833633	185833633	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:185833633G>T	ENST00000271588.4	+	3	600	c.371G>T	c.(370-372)gGa>gTa	p.G124V	HMCN1_ENST00000367492.2_Missense_Mutation_p.G124V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	124	VWFA.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGAGTATTGGAGCTATAAAA	0.393																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(370-372)gGa>gTa		hemicentin 1							123.0	118.0	120.0					1																	185833633		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185833633G>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.371G>T	1.37:g.185833633G>T	ENSP00000271588:p.Gly124Val					HMCN1_ENST00000367492.2_Missense_Mutation_p.G124V	p.G124V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			3	600	+			124			VWFA.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.371G>T	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.738101	0.89573	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	D;D	0.97575	-4.44;-4.44	5.43	5.43	0.79202	von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98283	0.9431	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99421	1.0933	10	0.87932	D	0	.	19.2402	0.93879	0.0:0.0:1.0:0.0	.	124	Q96RW7	HMCN1_HUMAN	V	124	ENSP00000271588:G124V;ENSP00000356462:G124V	ENSP00000271588:G124V	G	+	2	0	HMCN1	184100256	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.533000	0.85409	0.655000	0.94253	GGA		0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		12	43	1	0	0.00185496	1	0.00190543	12	43				
CEP152	22995	broad.mit.edu	37	15	49052444	49052444	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:49052444T>C	ENST00000380950.2	-	19	2769	c.2582A>G	c.(2581-2583)aAt>aGt	p.N861S	CEP152_ENST00000325747.5_Missense_Mutation_p.N768S|CEP152_ENST00000399334.3_Missense_Mutation_p.N861S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	861					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGATGAGCATTTTGCACAGC	0.403																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(2581-2583)aAt>aGt		centrosomal protein 152kDa							124.0	117.0	120.0					15																	49052444		1874	4109	5983	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49052444T>C	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2582A>G	15.37:g.49052444T>C	ENSP00000370337:p.Asn861Ser					CEP152_ENST00000325747.5_Missense_Mutation_p.N768S|CEP152_ENST00000399334.3_Missense_Mutation_p.N861S	p.N861S	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	19	2769	-		all_lung(180;0.0428)	861					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.2582A>G	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048703	0.36181	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.53423	0.62;0.64;0.65	4.66	4.66	0.58398	.	0.266760	0.35235	N	0.003355	T	0.61726	0.2370	M	0.68317	2.08	0.26023	N	0.981841	D;P;D	0.71674	0.998;0.884;0.988	D;P;P	0.76071	0.987;0.482;0.717	T	0.54695	-0.8255	10	0.46703	T	0.11	-14.0254	7.8615	0.29511	0.0:0.0937:0.0:0.9063	.	768;861;861	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	S	861;768;861	ENSP00000370337:N861S;ENSP00000321000:N768S;ENSP00000382271:N861S	ENSP00000321000:N768S	N	-	2	0	CEP152	46839736	1.000000	0.71417	1.000000	0.80357	0.274000	0.26718	2.109000	0.41863	1.951000	0.56629	0.533000	0.62120	AAT		0.403	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		30	64	0	0	0	1	0	30	64				
KCNK4	50801	broad.mit.edu	37	11	64066993	64066993	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:64066993C>A	ENST00000539216.1	+	6	1337	c.977C>A	c.(976-978)gCt>gAt	p.A326D	KCNK4_ENST00000394525.2_Missense_Mutation_p.A326D|KCNK4_ENST00000422670.2_Missense_Mutation_p.A326D|RP11-783K16.10_ENST00000539086.1_RNA|TEX40_ENST00000328404.6_5'Flank|TEX40_ENST00000539943.1_5'Flank|KCNK4_ENST00000538767.1_Silent_p.G210G			Q9NYG8	KCNK4_HUMAN	potassium channel, subfamily K, member 4	326					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						CCCGAGAAGGCTCAGCCGCCT	0.726																																						ENST00000539216.1																			0				breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						c.(976-978)gCt>gAt		potassium channel, subfamily K, member 4							17.0	21.0	20.0					11																	64066993		2170	4241	6411	SO:0001583	missense	50801					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr11:64066993C>A	AF247042	CCDS8067.1	11q13	2012-03-07			ENSG00000182450	ENSG00000182450		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6279	protein-coding gene	gene with protein product		605720				10767409, 16382106	Standard	NM_033310		Approved	K2p4.1, TRAAK	uc001nzk.1	Q9NYG8	OTTHUMG00000168006	ENST00000539216.1:c.977C>A	11.37:g.64066993C>A	ENSP00000444948:p.Ala326Asp					KCNK4_ENST00000422670.2_Missense_Mutation_p.A326D|RP11-783K16.10_ENST00000539086.1_RNA|KCNK4_ENST00000538767.1_Silent_p.G210G|KCNK4_ENST00000394525.2_Missense_Mutation_p.A326D	p.A326D			Q9NYG8	KCNK4_HUMAN			6	1337	+			326					B5TJL1|Q96T94	Missense_Mutation	SNP	ENST00000539216.1	37	c.977C>A	CCDS8067.1	.	.	.	.	.	.	.	.	.	.	C	7.973	0.749397	0.15778	.	.	ENSG00000182450	ENST00000422670;ENST00000539852;ENST00000394525;ENST00000544845;ENST00000539216	T;T;T	0.17370	2.28;2.28;2.28	4.28	-1.7	0.08159	.	3.634050	0.00812	N	0.001503	T	0.08179	0.0204	N	0.08118	0	0.09310	N	1	B;B	0.21905	0.062;0.01	B;B	0.24269	0.052;0.008	T	0.22730	-1.0208	10	0.11794	T	0.64	.	4.5936	0.12319	0.0:0.2261:0.1813:0.5926	.	352;326	Q9NYG8-2;Q9NYG8	.;KCNK4_HUMAN	D	326;351;326;388;326	ENSP00000402797:A326D;ENSP00000378033:A326D;ENSP00000444948:A326D	ENSP00000378033:A326D	A	+	2	0	KCNK4	63823569	0.001000	0.12720	0.004000	0.12327	0.023000	0.10783	-0.324000	0.07986	0.011000	0.14865	-0.291000	0.09656	GCT		0.726	KCNK4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396430.1	NM_033311		21	74	1	0	2.37509e-13	1	2.71696e-13	21	74				
GPR156	165829	broad.mit.edu	37	3	119886626	119886626	+	Silent	SNP	G	G	A	rs140788830		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:119886626G>A	ENST00000464295.1	-	10	2143	c.1698C>T	c.(1696-1698)acC>acT	p.T566T	GPR156_ENST00000315843.3_Silent_p.T566T|GPR156_ENST00000461057.1_Silent_p.T562T			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	566						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AAGAGGGGGCGGTGGAGAGGG	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16728	0.0		0.0	False		,,,				2504	0.0					ENST00000464295.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32						c.(1696-1698)acC>acT		G protein-coupled receptor 156		G	,	4,4380		0,4,2188	50.0	59.0	56.0		1686,1698	-3.5	0.0	3	dbSNP_134	56	0,8536		0,0,4268	no	coding-synonymous,coding-synonymous	GPR156	NM_001168271.1,NM_153002.2	,	0,4,6456	AA,AG,GG		0.0,0.0912,0.031	,	562/811,566/815	119886626	4,12916	2192	4268	6460	SO:0001819	synonymous_variant	165829					integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity	g.chr3:119886626G>A	AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1698C>T	3.37:g.119886626G>A						GPR156_ENST00000315843.3_Silent_p.T566T|GPR156_ENST00000461057.1_Silent_p.T562T	p.T566T			Q8NFN8	GP156_HUMAN		GBM - Glioblastoma multiforme(114;0.19)	10	2143	-			566					B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Silent	SNP	ENST00000464295.1	37	c.1698C>T	CCDS2997.1																																																																																				0.577	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355139.1	NM_153002		47	156	0	0	0	1	0	47	156				
COL1A1	1277	broad.mit.edu	37	17	48278778	48278778	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:48278778C>A	ENST00000225964.5	-	1	215	c.97G>T	c.(97-99)Gaa>Taa	p.E33*		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	33					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	TTACTGTCTTCGTCTTGGCCC	0.587			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															ENST00000225964.5				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	"""PDGFB, USP6"""		"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """	COL1A1/PDGFB(429)	0				NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(97-99)Gaa>Taa		collagen, type I, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						91.0	80.0	84.0					17																	48278778		2203	4300	6503	SO:0001587	stop_gained	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48278778C>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.97G>T	17.37:g.48278778C>A	ENSP00000225964:p.Glu33*						p.E33*	NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN			1	215	-			33					O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Nonsense_Mutation	SNP	ENST00000225964.5	37	c.97G>T	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	32	5.160483	0.94727	.	.	ENSG00000108821	ENST00000225964	.	.	.	1.85	0.847	0.18961	.	0.300919	0.20255	U	0.095998	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	6.2849	0.21027	0.0:0.8253:0.0:0.1747	.	.	.	.	X	33	.	ENSP00000225964:E33X	E	-	1	0	COL1A1	45633777	0.992000	0.36948	0.948000	0.38648	0.907000	0.53573	1.232000	0.32636	0.331000	0.23511	0.313000	0.20887	GAA		0.587	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			8	20	1	0	5.18039e-06	1	5.43222e-06	8	20				
FLG	2312	broad.mit.edu	37	1	152280521	152280521	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:152280521G>T	ENST00000368799.1	-	3	6876	c.6841C>A	c.(6841-6843)Cac>Aac	p.H2281N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2281	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACCTGGGGTGTCTGGAGCCA	0.552									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(6841-6843)Cac>Aac		filaggrin							228.0	232.0	231.0					1																	152280521		2203	4298	6501	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152280521G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6841C>A	1.37:g.152280521G>T	ENSP00000357789:p.His2281Asn					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H2281N	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6876	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2281			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.6841C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	5.343	0.248607	0.10130	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.04015	3.73	3.41	-2.95	0.05564	.	.	.	.	.	T	0.01976	0.0062	L	0.45137	1.4	0.09310	N	1	D	0.58268	0.982	P	0.52454	0.699	T	0.24657	-1.0154	9	0.39692	T	0.17	.	0.5583	0.00674	0.209:0.1571:0.3139:0.3201	.	2281	P20930	FILA_HUMAN	N	2281;191	ENSP00000357789:H2281N	ENSP00000271820:H191N	H	-	1	0	FLG	150547145	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.601000	0.05687	-0.788000	0.04504	-0.446000	0.05623	CAC		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		15	445	1	0	3.27435e-08	1	3.63549e-08	15	445				
MYO7A	4647	broad.mit.edu	37	11	76903103	76903103	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:76903103C>T	ENST00000409709.3	+	31	4204	c.3932C>T	c.(3931-3933)tCc>tTc	p.S1311F	MYO7A_ENST00000458637.2_Missense_Mutation_p.S1311F|MYO7A_ENST00000409619.2_Missense_Mutation_p.S1300F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1311	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CAGGTGTCCTCCCTGGGCAGC	0.652											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(3931-3933)tCc>tTc		myosin VIIA							26.0	30.0	29.0					11																	76903103		2072	4195	6267	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76903103C>T	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3932C>T	11.37:g.76903103C>T	ENSP00000386331:p.Ser1311Phe		OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1171	MYO7A_ENST00000458637.2_Missense_Mutation_p.S1311F|MYO7A_ENST00000409619.2_Missense_Mutation_p.S1300F	p.S1311F	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			31	4204	+			1311			FERM 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.3932C>T	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376785	0.82682	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	4.62	4.62	0.57501	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.88426	0.6433	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.999	D	0.91160	0.4960	10	0.87932	D	0	.	17.4596	0.87617	0.0:1.0:0.0:0.0	.	1300;1311;1311	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	F	1311;1311;1300;522;1310;1280;1187;492	ENSP00000386331:S1311F;ENSP00000392185:S1311F;ENSP00000386635:S1300F;ENSP00000417017:S492F	ENSP00000345075:S1187F	S	+	2	0	MYO7A	76580751	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	7.480000	0.81109	2.105000	0.64084	0.471000	0.43371	TCC		0.652	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		16	29	0	0	0	1	0	16	29				
DNAH7	56171	broad.mit.edu	37	2	196825355	196825355	+	Silent	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:196825355G>T	ENST00000312428.6	-	18	2620	c.2520C>A	c.(2518-2520)ctC>ctA	p.L840L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	840	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCACTTGAATGAGAGGAATGT	0.438																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(2518-2520)ctC>ctA		dynein, axonemal, heavy chain 7							151.0	150.0	151.0					2																	196825355		1922	4129	6051	SO:0001819	synonymous_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825355G>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2520C>A	2.37:g.196825355G>T							p.L840L	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			18	2620	-			840			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Silent	SNP	ENST00000312428.6	37	c.2520C>A	CCDS42794.1																																																																																				0.438	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		43	99	1	0	8.20599e-20	1	1.0074e-19	43	99				
CLMN	79789	broad.mit.edu	37	14	95670794	95670794	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:95670794T>C	ENST00000298912.4	-	9	1005	c.892A>G	c.(892-894)Att>Gtt	p.I298V		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	298					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GAATCGAAAATATCTTCCTGC	0.318																																						ENST00000298912.4																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44						c.(892-894)Att>Gtt		calmin (calponin-like, transmembrane)							32.0	36.0	34.0					14																	95670794		2179	4286	6465	SO:0001583	missense	79789					integral to membrane	actin binding	g.chr14:95670794T>C	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.892A>G	14.37:g.95670794T>C	ENSP00000298912:p.Ile298Val						p.I298V	NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN		Epithelial(152;0.193)	9	1005	-			298					B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	ENST00000298912.4	37	c.892A>G	CCDS9933.1	.	.	.	.	.	.	.	.	.	.	T	0.925	-0.714590	0.03206	.	.	ENSG00000165959	ENST00000298912	D	0.91843	-2.92	5.64	-7.4	0.01397	.	0.993542	0.08158	N	0.988969	T	0.73265	0.3565	N	0.03608	-0.345	0.26596	N	0.973116	B	0.10296	0.003	B	0.09377	0.004	T	0.63528	-0.6617	10	0.22109	T	0.4	.	2.6926	0.05125	0.3401:0.3789:0.1166:0.1644	.	298	Q96JQ2	CLMN_HUMAN	V	298	ENSP00000298912:I298V	ENSP00000298912:I298V	I	-	1	0	CLMN	94740547	0.007000	0.16637	0.001000	0.08648	0.001000	0.01503	0.434000	0.21494	-1.246000	0.02510	-2.377000	0.00234	ATT		0.318	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414518.2			9	33	0	0	0	1	0	9	33				
HERPUD1	9709	broad.mit.edu	37	16	56974109	56974109	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:56974109C>T	ENST00000439977.2	+	6	1054	c.857C>T	c.(856-858)tCc>tTc	p.S286F	HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000570273.1_Intron|HERPUD1_ENST00000379792.2_Missense_Mutation_p.S261F|HERPUD1_ENST00000300302.5_Missense_Mutation_p.S285F|RP11-325K4.2_ENST00000570210.1_RNA|RP11-325K4.3_ENST00000565861.1_RNA	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	286					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular calcium ion homeostasis (GO:0006874)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of protein binding (GO:0032092)|regulation of protein ubiquitination (GO:0031396)|response to unfolded protein (GO:0006986)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						TTCTACTCCTCCCTGAGCAGA	0.403			T	ERG	prostate																																	ENST00000439977.2				Dom	yes		16	16q12.2-q13	9709	T	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1"""			E	ERG		prostate		0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						c.(856-858)tCc>tTc		homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1							190.0	181.0	184.0					16																	56974109		2198	4300	6498	SO:0001583	missense	9709					endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr16:56974109C>T	AB034989	CCDS10771.1, CCDS45492.1	16q13	2008-05-14			ENSG00000051108	ENSG00000051108			13744	protein-coding gene	gene with protein product		608070				10922362, 10708769	Standard	NM_001010989		Approved	KIAA0025, Mif1, HERP, SUP	uc002eke.2	Q15011	OTTHUMG00000133276	ENST00000439977.2:c.857C>T	16.37:g.56974109C>T	ENSP00000409555:p.Ser286Phe					HERPUD1_ENST00000344114.4_Intron|HERPUD1_ENST00000300302.5_Missense_Mutation_p.S285F|HERPUD1_ENST00000379792.2_Missense_Mutation_p.S261F|HERPUD1_ENST00000570273.1_Intron	p.S286F	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN			6	1054	+			286					E9PGD1|O60644|Q6IAN8|Q96D92	Missense_Mutation	SNP	ENST00000439977.2	37	c.857C>T	CCDS10771.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.466777	0.63625	.	.	ENSG00000051108	ENST00000439977;ENST00000379792;ENST00000300302	T;T	0.23950	1.88;1.99	5.74	5.74	0.90152	.	0.134045	0.64402	D	0.000006	T	0.51193	0.1660	M	0.74467	2.265	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.987;0.999;0.998	T	0.52366	-0.8585	10	0.87932	D	0	-17.6887	13.8137	0.63278	0.0:0.7453:0.2547:0.0	.	261;285;286	E9PGD1;Q15011-2;Q15011	.;.;HERP1_HUMAN	F	285;261;286	ENSP00000409555:S285F;ENSP00000369118:S261F	ENSP00000300302:S286F	S	+	2	0	HERPUD1	55531610	0.814000	0.29104	1.000000	0.80357	0.993000	0.82548	1.350000	0.34010	2.707000	0.92482	0.655000	0.94253	TCC		0.403	HERPUD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257056.5			35	72	0	0	0	1	0	35	72				
TUBB8P7	197331	broad.mit.edu	37	16	90162340	90162340	+	RNA	SNP	C	C	T	rs138169571	byFrequency	TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:90162340C>T	ENST00000564451.1	+	0	1693				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R358W(1)									CATCCCACTCCGGGGGCTAAA	0.478													.|||	307	0.0613019	0.0461	0.0735	5008	,	,		21594	0.0268		0.0795	False		,,,				2504	0.09					ENST00000564451.1																			1	Substitution - Missense(1)	p.R358W(1)	stomach(1)																																																197331							g.chr16:90162340C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162340C>T						TUBB8P7_ENST00000567960.1_RNA								0	1693	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.478	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	152	0	0	0	1	0	4	152				
ABHD17C	58489	broad.mit.edu	37	15	81046671	81046671	+	Missense_Mutation	SNP	G	G	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr15:81046671G>T	ENST00000258884.4	+	3	1077	c.950G>T	c.(949-951)aGa>aTa	p.R317I	ABHD17C_ENST00000560609.1_Missense_Mutation_p.R82I|ABHD17C_ENST00000558464.1_Missense_Mutation_p.R283I|ABHD17C_ENST00000559506.1_3'UTR	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	317							hydrolase activity (GO:0016787)										TACCTAGAAAGACTAAAACAG	0.463																																						ENST00000258884.4																			0											c.(949-951)aGa>aTa		abhydrolase domain containing 17C							68.0	65.0	66.0					15																	81046671		1905	4124	6029	SO:0001583	missense	58489							g.chr15:81046671G>T		CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"""Abhydrolase domain containing"""	26925	protein-coding gene	gene with protein product			"""family with sequence similarity 108, member C1"""	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.950G>T	15.37:g.81046671G>T	ENSP00000258884:p.Arg317Ile					ABHD17C_ENST00000559506.1_3'UTR|ABHD17C_ENST00000560609.1_Missense_Mutation_p.R82I|ABHD17C_ENST00000558464.1_Missense_Mutation_p.R283I	p.R317I	NM_021214.1	NP_067037.1					3	1077	+								Q1RMD6|Q9NPM1	Missense_Mutation	SNP	ENST00000258884.4	37	c.950G>T	CCDS45323.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953933	0.92660	.	.	ENSG00000136379	ENST00000258884	T	0.42900	0.96	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.73814	-0.3864	10	0.56958	D	0.05	.	19.3772	0.94517	0.0:0.0:1.0:0.0	.	317;283	Q6PCB6;Q6PCB6-2	F108C_HUMAN;.	I	317	ENSP00000258884:R317I	ENSP00000258884:R317I	R	+	2	0	FAM108C1	78833726	1.000000	0.71417	0.980000	0.43619	0.979000	0.70002	9.364000	0.97136	2.560000	0.86352	0.650000	0.86243	AGA		0.463	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417652.1	NM_021214		7	34	1	0	0.0477658	1	0.0484069	7	34				
LILRB1	10859	broad.mit.edu	37	19	55143173	55143173	+	Missense_Mutation	SNP	G	G	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr19:55143173G>A	ENST00000396331.1	+	5	650	c.293G>A	c.(292-294)tGt>tAt	p.C98Y	LILRB1_ENST00000324602.7_Missense_Mutation_p.C98Y|LILRB1_ENST00000448689.1_Missense_Mutation_p.C98Y|LILRB1_ENST00000427581.2_Missense_Mutation_p.C134Y|LILRB1_ENST00000418536.2_Missense_Mutation_p.C98Y|LILRB1_ENST00000396327.3_Missense_Mutation_p.C98Y|LILRB1_ENST00000434867.2_Missense_Mutation_p.C98Y|LILRB1_ENST00000396315.1_Missense_Mutation_p.C98Y|LILRB1_ENST00000396332.4_Missense_Mutation_p.C98Y|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396317.1_Missense_Mutation_p.C98Y|LILRB1_ENST00000396321.2_Missense_Mutation_p.C98Y	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	98	Ig-like C2-type 1.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CGGTATCGCTGTTACTATGGT	0.587										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(292-294)tGt>tAt		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							141.0	131.0	135.0					19																	55143173		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143173G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.293G>A	19.37:g.55143173G>A	ENSP00000379622:p.Cys98Tyr	HNSCC(37;0.09)				LILRB1_ENST00000396315.1_Missense_Mutation_p.C98Y|LILRB1_ENST00000396317.1_Missense_Mutation_p.C98Y|LILRB1_ENST00000396332.4_Missense_Mutation_p.C98Y|LILRB1_ENST00000396321.2_Missense_Mutation_p.C98Y|LILRB1_ENST00000396327.3_Missense_Mutation_p.C98Y|LILRB1_ENST00000418536.2_Missense_Mutation_p.C98Y|LILRB1_ENST00000324602.7_Missense_Mutation_p.C98Y|LILRB1_ENST00000427581.2_Missense_Mutation_p.C134Y|LILRB1_ENST00000448689.1_Missense_Mutation_p.C98Y|LILRB1_ENST00000434867.2_Missense_Mutation_p.C98Y	p.C98Y	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	650	+			98			Ig-like C2-type 1.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.293G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.814736	0.32053	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.58940	0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3;0.3	2.11	2.11	0.27256	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000018	D	0.82944	0.5147	H	0.99211	4.47	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;1.0;0.996;1.0;1.0	T	0.72846	-0.4169	10	0.87932	D	0	.	7.7379	0.28825	0.0:0.0:1.0:0.0	.	98;98;98;98;98	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	Y	98;98;98;98;98;98;98;98;134;98;98	ENSP00000379614:C98Y;ENSP00000391514:C98Y;ENSP00000409968:C98Y;ENSP00000379622:C98Y;ENSP00000379618:C98Y;ENSP00000315997:C98Y;ENSP00000405243:C98Y;ENSP00000379623:C98Y;ENSP00000395004:C134Y;ENSP00000379610:C98Y;ENSP00000379608:C98Y	ENSP00000315997:C98Y	C	+	2	0	LILRB1	59834985	0.384000	0.25164	0.010000	0.14722	0.005000	0.04900	3.543000	0.53633	1.198000	0.43158	0.194000	0.17425	TGT		0.587	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			36	86	0	0	0	1	0	36	86				
PLXNC1	10154	broad.mit.edu	37	12	94673260	94673260	+	Missense_Mutation	SNP	G	G	A	rs139894368		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:94673260G>A	ENST00000258526.4	+	22	3859	c.3610G>A	c.(3610-3612)Gtc>Atc	p.V1204I	RP11-1105G2.3_ENST00000547927.1_5'Flank|PLXNC1_ENST00000545312.1_5'UTR|RP11-1105G2.3_ENST00000551941.1_Intron|RP11-1105G2.4_ENST00000550111.1_RNA|PLXNC1_ENST00000547057.1_Missense_Mutation_p.V251I	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1204					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)	p.V1204I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ATTAAACGTCGTCTTTGAAAA	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15569	0.0		0.0	False		,,,				2504	0.0					ENST00000258526.4																			1	Substitution - Missense(1)	p.V1204I(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3610-3612)Gtc>Atc		plexin C1		G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	81.0	78.0	79.0		3610	1.6	1.0	12	dbSNP_134	79	0,8600		0,0,4300	no	missense	PLXNC1	NM_005761.2	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	1204/1569	94673260	1,13005	2203	4300	6503	SO:0001583	missense	10154				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding	g.chr12:94673260G>A	AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3610G>A	12.37:g.94673260G>A	ENSP00000258526:p.Val1204Ile					PLXNC1_ENST00000547057.1_Missense_Mutation_p.V251I|PLXNC1_ENST00000545312.1_5'UTR|RP11-1105G2.3_ENST00000551941.1_Intron	p.V1204I	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN			22	3859	+			1204					Q59H25	Missense_Mutation	SNP	ENST00000258526.4	37	c.3610G>A	CCDS9049.1	.	.	.	.	.	.	.	.	.	.	G	11.24	1.579105	0.28180	2.27E-4	0.0	ENSG00000136040	ENST00000258526;ENST00000547057	T;T	0.10860	2.83;2.83	5.81	1.63	0.23807	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.592975	0.14030	N	0.346224	T	0.05686	0.0149	N	0.13140	0.3	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.06405	0.001;0.002	T	0.37753	-0.9692	10	0.12430	T	0.62	.	9.1544	0.36983	0.4301:0.0:0.5699:0.0	.	251;1204	B4DHQ7;O60486	.;PLXC1_HUMAN	I	1204;251	ENSP00000258526:V1204I;ENSP00000446720:V251I	ENSP00000258526:V1204I	V	+	1	0	PLXNC1	93197391	0.125000	0.22332	0.996000	0.52242	0.900000	0.52787	0.089000	0.15002	0.020000	0.15106	-0.126000	0.14955	GTC		0.403	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408126.2			16	32	0	0	0	1	0	16	32				
PAM	5066	broad.mit.edu	37	5	102353044	102353044	+	Missense_Mutation	SNP	G	G	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:102353044G>C	ENST00000438793.3	+	21	2808	c.2338G>C	c.(2338-2340)Gat>Cat	p.D780H	PAM_ENST00000304400.7_Missense_Mutation_p.D780H|PAM_ENST00000455264.2_Missense_Mutation_p.D780H|PAM_ENST00000346918.2_Missense_Mutation_p.D780H|PAM_ENST00000348126.2_Missense_Mutation_p.D673H|PAM_ENST00000379787.4_Missense_Mutation_p.D160H|PAM_ENST00000274392.9_Missense_Mutation_p.D683H	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	780	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase. {ECO:0000250}.				central nervous system development (GO:0007417)|heart development (GO:0007507)|lactation (GO:0007595)|limb development (GO:0060173)|long-chain fatty acid metabolic process (GO:0001676)|maternal process involved in female pregnancy (GO:0060135)|odontogenesis (GO:0042476)|ovulation cycle process (GO:0022602)|peptide amidation (GO:0001519)|protein amidation (GO:0018032)|protein homooligomerization (GO:0051260)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of protein secretion (GO:0050708)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to pH (GO:0009268)|toxin metabolic process (GO:0009404)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule membrane (GO:0030667)|trans-Golgi network (GO:0005802)	calcium ion binding (GO:0005509)|copper ion binding (GO:0005507)|L-ascorbic acid binding (GO:0031418)|peptidylamidoglycolate lyase activity (GO:0004598)|peptidylglycine monooxygenase activity (GO:0004504)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	GCAGCACTTTGATATGCCTCA	0.413																																						ENST00000438793.3																			0				endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25						c.(2338-2340)Gat>Cat		peptidylglycine alpha-amidating monooxygenase	Vitamin C(DB00126)						342.0	315.0	324.0					5																	102353044		2203	4300	6503	SO:0001583	missense	5066				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	g.chr5:102353044G>C	AB095007	CCDS4092.1, CCDS4093.1, CCDS4094.1, CCDS43348.1, CCDS54885.1	5q	2008-02-05			ENSG00000145730	ENSG00000145730	1.14.17.3		8596	protein-coding gene	gene with protein product	"""peptidyl-alpha-hydroxyglycine alpha-amidating lyase"", ""peptidylglycine alpha-hydroxylating monooxygenase"""	170270				2357221	Standard	NM_000919		Approved	PAL, PHM	uc003knt.3	P19021	OTTHUMG00000128729	ENST00000438793.3:c.2338G>C	5.37:g.102353044G>C	ENSP00000396493:p.Asp780His					PAM_ENST00000346918.2_Missense_Mutation_p.D780H|PAM_ENST00000455264.2_Missense_Mutation_p.D780H|PAM_ENST00000304400.7_Missense_Mutation_p.D780H|PAM_ENST00000348126.2_Missense_Mutation_p.D673H|PAM_ENST00000274392.9_Missense_Mutation_p.D683H|PAM_ENST00000379787.4_Missense_Mutation_p.D160H	p.D780H	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	21	2808	+		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)	780			Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).		A6NMR0|A8K293|O43211|O95080|Q16252|Q16253|Q54A45|Q86U53|Q8WVC7|Q9UCG0	Missense_Mutation	SNP	ENST00000438793.3	37	c.2338G>C	CCDS54885.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	17.21|17.21|17.21	3.332399|3.332399|3.332399	0.60853|0.60853|0.60853	.|.|.	.|.|.	ENSG00000145730|ENSG00000145730|ENSG00000145730	ENST00000438793;ENST00000346918;ENST00000348126;ENST00000379787;ENST00000304400;ENST00000274392;ENST00000455264|ENST00000504691|ENST00000379799	T;T;T;T;T;T;T|.|.	0.72394|.|.	-0.65;-0.65;-0.65;-0.65;-0.65;-0.65;-0.65|.|.	5.17|5.17|5.17	5.17|5.17|5.17	0.71159|0.71159|0.71159	Six-bladed beta-propeller, TolB-like (1);|.|.	0.285799|.|.	0.38272|.|.	N|.|.	0.001741|.|.	T|T|.	0.53753|0.53753|.	0.1816|0.1816|.	N|N|N	0.19112|0.19112|0.19112	0.55|0.55|0.55	0.53005|0.53005|0.53005	D|D|D	0.999969|0.999969|0.999969	P;P;P;P;B;P;P|.|.	0.51351|.|.	0.931;0.944;0.944;0.931;0.157;0.931;0.931|.|.	P;P;P;P;B;P;P|.|.	0.61722|.|.	0.761;0.893;0.846;0.828;0.079;0.761;0.828|.|.	T|T|.	0.47911|0.47911|.	-0.9080|-0.9080|.	10|5|.	0.62326|.|.	D|.|.	0.03|.|.	.|.|.	18.8547|18.8547|18.8547	0.92247|0.92247|0.92247	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	683;160;780;780;780;780;673|.|.	F8WE90;A6NMH0;P19021;P19021-4;P19021-3;P19021-5;P19021-2|.|.	.;.;AMD_HUMAN;.;.;.;.|.|.	H|F|S	780;780;673;160;780;683;780|74|552	ENSP00000396493:D780H;ENSP00000282992:D780H;ENSP00000314638:D673H;ENSP00000369113:D160H;ENSP00000306100:D780H;ENSP00000274392:D683H;ENSP00000403461:D780H|.|.	ENSP00000274392:D683H|.|.	D|L|X	+|+|+	1|3|2	0|2|2	PAM|PAM|PAM	102380943|102380943|102380943	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.957000|0.957000|0.957000	0.61999|0.61999|0.61999	4.285000|4.285000|4.285000	0.58989|0.58989|0.58989	2.677000|2.677000|2.677000	0.91161|0.91161|0.91161	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAT|TTG|TGA		0.413	PAM-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250640.2	NM_000919		41	83	0	0	0	1	0	41	83				
CAPZB	832	broad.mit.edu	37	1	19670881	19670881	+	Silent	SNP	T	T	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr1:19670881T>A	ENST00000375142.1	-	8	748	c.702A>T	c.(700-702)ggA>ggT	p.G234G	CAPZB_ENST00000264202.6_Silent_p.G234G|CAPZB_ENST00000401084.2_Silent_p.G234G|CAPZB_ENST00000264203.3_Intron|CAPZB_ENST00000433834.1_Silent_p.G263G|CAPZB_ENST00000375144.1_Silent_p.G222G	NM_001206540.1	NP_001193469.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	234					actin cytoskeleton organization (GO:0030036)|barbed-end actin filament capping (GO:0051016)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|muscle fiber development (GO:0048747)|negative regulation of microtubule polymerization (GO:0031115)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)|regulation of protein kinase C signaling (GO:0090036)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|membrane (GO:0016020)|WASH complex (GO:0071203)|Z disc (GO:0030018)	actin binding (GO:0003779)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		CCTTTGTTTTTCCAAAGTAGA	0.483											OREG0013171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000401084.2																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7						c.(700-702)ggA>ggT		capping protein (actin filament) muscle Z-line, beta							226.0	216.0	219.0					1																	19670881		1998	4171	6169	SO:0001819	synonymous_variant	832				actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding	g.chr1:19670881T>A	U03271	CCDS41277.1, CCDS55579.1, CCDS72717.1, CCDS72718.1	1p36.1	2014-05-09			ENSG00000077549	ENSG00000077549			1491	protein-coding gene	gene with protein product		601572					Standard	NM_004930		Approved		uc021ohr.1	P47756	OTTHUMG00000002556	ENST00000375142.1:c.702A>T	1.37:g.19670881T>A			OREG0013171	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	735	CAPZB_ENST00000375142.1_Silent_p.G234G|CAPZB_ENST00000264203.3_Intron|CAPZB_ENST00000375144.1_Silent_p.G222G|CAPZB_ENST00000433834.1_Silent_p.G263G|CAPZB_ENST00000264202.6_Silent_p.G234G	p.G234G	NM_004930.3	NP_004921.1	P47756	CAPZB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)	8	835	-		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)	234					Q32Q68|Q5U0L4|Q8TB49|Q9NUC4	Silent	SNP	ENST00000375142.1	37	c.702A>T	CCDS55579.1																																																																																				0.483	CAPZB-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007260.1			18	56	0	0	0	1	0	18	56				
MYO7A	4647	broad.mit.edu	37	11	76903206	76903206	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr11:76903206C>A	ENST00000409709.3	+	31	4307	c.4035C>A	c.(4033-4035)ttC>ttA	p.F1345L	MYO7A_ENST00000458637.2_Missense_Mutation_p.F1345L|MYO7A_ENST00000409619.2_Missense_Mutation_p.F1334L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1345	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GGAGGCTCTTCTTCCGCAAAG	0.647											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000409709.3																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(4033-4035)ttC>ttA		myosin VIIA							72.0	83.0	79.0					11																	76903206		2116	4228	6344	SO:0001583	missense	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76903206C>A	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.4035C>A	11.37:g.76903206C>A	ENSP00000386331:p.Phe1345Leu		OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1171	MYO7A_ENST00000458637.2_Missense_Mutation_p.F1345L|MYO7A_ENST00000409619.2_Missense_Mutation_p.F1334L	p.F1345L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			31	4307	+			1345			FERM 1.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	ENST00000409709.3	37	c.4035C>A	CCDS53683.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.441754	0.83993	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	4.62	4.62	0.57501	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.85792	0.5779	M	0.73962	2.25	0.80722	D	1	P;P;D	0.89917	0.891;0.881;1.0	P;P;D	0.91635	0.833;0.511;0.999	D	0.86835	0.2013	10	0.49607	T	0.09	.	17.4596	0.87617	0.0:1.0:0.0:0.0	.	1334;1345;1345	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	L	1345;1345;1334;556;1344;1314;1221;526	ENSP00000386331:F1345L;ENSP00000392185:F1345L;ENSP00000386635:F1334L;ENSP00000417017:F526L	ENSP00000345075:F1221L	F	+	3	2	MYO7A	76580854	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.098000	0.50259	2.105000	0.64084	0.471000	0.43371	TTC		0.647	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		29	132	1	0	3.65163e-15	1	4.3417e-15	29	132				
MDN1	23195	broad.mit.edu	37	6	90421860	90421860	+	Missense_Mutation	SNP	A	A	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr6:90421860A>C	ENST00000369393.3	-	49	7661	c.7546T>G	c.(7546-7548)Ttg>Gtg	p.L2516V	MDN1_ENST00000428876.1_Missense_Mutation_p.L2516V			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2516					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCCATGACCAAAACATCTGGT	0.418																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(7546-7548)Ttg>Gtg		MDN1, midasin homolog (yeast)							159.0	162.0	161.0					6																	90421860		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90421860A>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.7546T>G	6.37:g.90421860A>C	ENSP00000358400:p.Leu2516Val					MDN1_ENST00000428876.1_Missense_Mutation_p.L2516V	p.L2516V			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	49	7661	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	2516					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.7546T>G	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.188344	0.38609	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.04454	3.62;3.62	5.86	3.53	0.40419	.	0.085865	0.47093	D	0.000249	T	0.01627	0.0052	L	0.34521	1.04	0.37110	D	0.900326	P	0.44090	0.826	B	0.40825	0.341	T	0.52578	-0.8557	10	0.62326	D	0.03	.	3.971	0.09454	0.2858:0.0:0.5285:0.1857	.	2516	Q9NU22	MDN1_HUMAN	V	2516	ENSP00000358400:L2516V;ENSP00000413970:L2516V	ENSP00000358400:L2516V	L	-	1	2	MDN1	90478581	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	1.837000	0.39201	1.287000	0.44583	0.460000	0.39030	TTG		0.418	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			50	126	0	0	0	1	0	50	126				
KLRF1	51348	broad.mit.edu	37	12	9994936	9994936	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr12:9994936A>G	ENST00000279544.3	+	5	558	c.494A>G	c.(493-495)aAc>aGc	p.N165S	KLRF1_ENST00000324214.4_Missense_Mutation_p.N115S|KLRF1_ENST00000537723.1_Intron|KLRF1_ENST00000354855.3_Intron	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	165	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|MHC class I receptor activity (GO:0032393)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						ATACAGAAAAACCTAAGACAA	0.333																																						ENST00000279544.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						c.(493-495)aAc>aGc		killer cell lectin-like receptor subfamily F, member 1							120.0	113.0	115.0					12																	9994936		1835	4088	5923	SO:0001583	missense	51348				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding	g.chr12:9994936A>G	AF175206	CCDS41750.1	12p13.31	2011-08-30			ENSG00000150045	ENSG00000150045		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	13342	protein-coding gene	gene with protein product		605029				10671213	Standard	NM_001291823		Approved	CLEC5C, NKp80	uc021qux.1	Q9NZS2		ENST00000279544.3:c.494A>G	12.37:g.9994936A>G	ENSP00000279544:p.Asn165Ser					KLRF1_ENST00000537723.1_Intron|KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000324214.4_Missense_Mutation_p.N115S	p.N165S	NM_016523.1	NP_057607.1	Q9NZS2	KLRF1_HUMAN			5	558	+			165			C-type lectin.		Q4KMT5|Q96PR2|Q96PR3|Q9NZS1	Missense_Mutation	SNP	ENST00000279544.3	37	c.494A>G	CCDS41750.1	.	.	.	.	.	.	.	.	.	.	A	0.001	-3.224469	0.00023	.	.	ENSG00000150045	ENST00000324214;ENST00000279544	T;T	0.16743	2.32;2.32	3.09	0.662	0.17880	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.701988	0.11708	N	0.537247	T	0.05364	0.0142	N	0.02315	-0.6	0.09310	N	0.999996	B;B	0.23490	0.086;0.047	B;B	0.24848	0.056;0.006	T	0.42716	-0.9435	9	.	.	.	.	3.4652	0.07548	0.5896:0.2761:0.1343:0.0	.	165;115	Q9NZS2;Q9NZS2-2	KLRF1_HUMAN;.	S	115;165	ENSP00000322487:N115S;ENSP00000279544:N165S	.	N	+	2	0	KLRF1	9886203	0.002000	0.14202	0.101000	0.21167	0.033000	0.12548	0.076000	0.14712	0.133000	0.18654	0.454000	0.30748	AAC		0.333	KLRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399535.1	NM_016523		20	52	0	0	0	1	0	20	52				
AOC2	314	broad.mit.edu	37	17	40997280	40997280	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:40997280C>T	ENST00000253799.3	+	1	664	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	AOC2_ENST00000452774.2_Missense_Mutation_p.R213C	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	213					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		TCGGGGCTTGCGCTCAGGGGA	0.592																																						ENST00000253799.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(637-639)Cgc>Tgc		amine oxidase, copper containing 2 (retina-specific)							63.0	63.0	63.0					17																	40997280		2203	4299	6502	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997280C>T	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.637C>T	17.37:g.40997280C>T	ENSP00000253799:p.Arg213Cys					AOC2_ENST00000452774.2_Missense_Mutation_p.R213C	p.R213C	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	664	+		Breast(137;0.000143)	213					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.637C>T	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371677	0.24771	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.18174	2.23;2.23	5.51	0.855	0.19013	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.733347	0.13021	N	0.420071	T	0.20981	0.0505	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.999;0.998	D;P	0.65140	0.932;0.888	T	0.09885	-1.0654	10	0.56958	D	0.05	-19.8737	3.1267	0.06409	0.1772:0.5156:0.1034:0.2038	.	213;213	O75106;O75106-2	AOC2_HUMAN;.	C	213	ENSP00000253799:R213C;ENSP00000406134:R213C	ENSP00000253799:R213C	R	+	1	0	AOC2	38250806	0.000000	0.05858	0.000000	0.03702	0.307000	0.27823	-0.006000	0.12833	0.301000	0.22738	0.655000	0.94253	CGC		0.592	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158		4	139	0	0	0	1	0	4	139				
FBXL7	23194	broad.mit.edu	37	5	15928350	15928350	+	Missense_Mutation	SNP	C	C	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:15928350C>T	ENST00000504595.1	+	3	960	c.479C>T	c.(478-480)aCg>aTg	p.T160M	FBXL7_ENST00000329673.7_Missense_Mutation_p.T148M|FBXL7_ENST00000510662.1_Missense_Mutation_p.T113M	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	160					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)	p.T160M(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						ATCCGCCTGACGGGCGAGACC	0.657																																						ENST00000504595.1																			1	Substitution - Missense(1)	p.T160M(1)	ovary(1)	cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(478-480)aCg>aTg		F-box and leucine-rich repeat protein 7							19.0	23.0	22.0					5																	15928350		2087	4213	6300	SO:0001583	missense	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928350C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.479C>T	5.37:g.15928350C>T	ENSP00000423630:p.Thr160Met					FBXL7_ENST00000510662.1_Missense_Mutation_p.T113M|FBXL7_ENST00000329673.7_Missense_Mutation_p.T148M	p.T160M	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			3	960	+			160					B9EGF1|D6RDY7|O94926	Missense_Mutation	SNP	ENST00000504595.1	37	c.479C>T	CCDS54833.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389583	0.42410	.	.	ENSG00000183580	ENST00000504595;ENST00000510662;ENST00000329673	T;T;T	0.10382	2.88;2.88;2.88	5.36	4.5	0.54988	F-box domain, Skp2-like (1);	0.092711	0.85682	N	0.000000	T	0.09818	0.0241	L	0.36672	1.1	0.50632	D	0.999887	B	0.18968	0.032	B	0.11329	0.006	T	0.08806	-1.0704	10	0.44086	T	0.13	.	11.1644	0.48535	0.0:0.8515:0.0:0.1485	.	160	Q9UJT9	FBXL7_HUMAN	M	160;113;148	ENSP00000423630:T160M;ENSP00000425184:T113M;ENSP00000329632:T148M	ENSP00000329632:T148M	T	+	2	0	FBXL7	15981350	0.986000	0.35501	1.000000	0.80357	0.998000	0.95712	2.700000	0.47085	1.274000	0.44362	0.561000	0.74099	ACG		0.657	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		7	18	0	0	0	1	0	7	18				
TXNDC15	79770	broad.mit.edu	37	5	134223674	134223674	+	Missense_Mutation	SNP	C	C	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr5:134223674C>A	ENST00000358387.4	+	2	1018	c.393C>A	c.(391-393)ttC>ttA	p.F131L	TXNDC15_ENST00000546290.1_Missense_Mutation_p.F108L	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	131					cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAGCCTTTTCTCTCTGGATG	0.582																																						ENST00000358387.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17						c.(391-393)ttC>ttA		thioredoxin domain containing 15							75.0	73.0	74.0					5																	134223674		2203	4300	6503	SO:0001583	missense	79770				cell redox homeostasis	integral to membrane		g.chr5:134223674C>A	AK026278	CCDS4180.1	5q31.1	2008-02-05	2007-08-16	2007-08-16	ENSG00000113621	ENSG00000113621			20652	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 14"""	C5orf14			Standard	NM_024715		Approved	2310047H23Rik, FLJ22625	uc003lac.1	Q96J42	OTTHUMG00000129115	ENST00000358387.4:c.393C>A	5.37:g.134223674C>A	ENSP00000351157:p.Phe131Leu					TXNDC15_ENST00000546290.1_Missense_Mutation_p.F108L	p.F131L	NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	1018	+			131					D3DQA9|Q96MT2|Q9H639	Missense_Mutation	SNP	ENST00000358387.4	37	c.393C>A	CCDS4180.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.045|3.045	-0.196565|-0.196565	0.06259|0.06259	.|.	.|.	ENSG00000113621|ENSG00000113621	ENST00000441965;ENST00000358387;ENST00000506916;ENST00000508810;ENST00000546290|ENST00000508779	T;T|.	0.45668|.	0.89;0.92|.	5.62|5.62	0.722|0.722	0.18225|0.18225	.|.	0.554954|.	0.18910|.	N|.	0.127787|.	T|T	0.23727|0.23727	0.0574|0.0574	L|L	0.34521|0.34521	1.04|1.04	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.06405|.	0.002|.	T|T	0.22695|0.22695	-1.0209|-1.0209	10|5	0.21540|.	T|.	0.41|.	-1.1003|-1.1003	1.9372|1.9372	0.03339|0.03339	0.1347:0.4291:0.1327:0.3035|0.1347:0.4291:0.1327:0.3035	.|.	131|.	Q96J42|.	TXD15_HUMAN|.	L|Y	115;131;129;114;108|115	ENSP00000351157:F131L;ENSP00000443942:F108L|.	ENSP00000351157:F131L|.	F|S	+|+	3|2	2|0	TXNDC15|TXNDC15	134251573|134251573	0.026000|0.026000	0.19158|0.19158	0.092000|0.092000	0.20876|0.20876	0.032000|0.032000	0.12392|0.12392	0.004000|0.004000	0.13106|0.13106	0.211000|0.211000	0.20683|0.20683	0.591000|0.591000	0.81541|0.81541	TTC|TCT		0.582	TXNDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251160.1	NM_024715		16	37	1	0	1.02788e-11	1	1.15829e-11	16	37				
EPPK1	83481	broad.mit.edu	37	8	144943115	144943115	+	Nonsense_Mutation	SNP	G	G	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr8:144943115G>C	ENST00000525985.1	-	2	4378	c.4307C>G	c.(4306-4308)tCa>tGa	p.S1436*				P58107	EPIPL_HUMAN	epiplakin 1	1436						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACTGTGTCTGAGGGCAGTGG	0.622																																						ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4306-4308)tCa>tGa		epiplakin 1							47.0	51.0	50.0					8																	144943115		2196	4288	6484	SO:0001587	stop_gained	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144943115G>C	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.4307C>G	8.37:g.144943115G>C	ENSP00000436337:p.Ser1436*						p.S1436*			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	4378	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		1436					Q76E58|Q9NSU9	Nonsense_Mutation	SNP	ENST00000525985.1	37	c.4307C>G		.	.	.	.	.	.	.	.	.	.	G	38	6.843728	0.97881	.	.	ENSG00000227184	ENST00000525985	.	.	.	4.39	1.96	0.26148	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	4.5608	0.12160	0.0:0.1086:0.2112:0.6802	.	.	.	.	X	1436	.	ENSP00000436337:S1436X	S	-	2	0	EPPK1	145015103	0.008000	0.16893	0.083000	0.20561	0.002000	0.02628	1.523000	0.35932	0.732000	0.32470	-0.262000	0.10625	TCA		0.622	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		20	64	0	0	0	1	0	20	64				
FBXO8	26269	broad.mit.edu	37	4	175158592	175158592	+	Missense_Mutation	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr4:175158592T>C	ENST00000393674.2	-	6	1793	c.931A>G	c.(931-933)Atc>Gtc	p.I311V	FBXO8_ENST00000503293.1_Missense_Mutation_p.I270V	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	311					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		ATAAGGTAGATATTGTCATAA	0.383																																						ENST00000393674.2																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14						c.(931-933)Atc>Gtc		F-box protein 8							87.0	86.0	86.0					4																	175158592		2203	4300	6503	SO:0001583	missense	26269				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	g.chr4:175158592T>C	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"""F-boxes /  ""other"""""	13587	protein-coding gene	gene with protein product		605649	"""F-box only protein 8"""			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.931A>G	4.37:g.175158592T>C	ENSP00000377280:p.Ile311Val					FBXO8_ENST00000503293.1_Missense_Mutation_p.I270V	p.I311V	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	6	1793	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	311					B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Missense_Mutation	SNP	ENST00000393674.2	37	c.931A>G	CCDS3820.1	.	.	.	.	.	.	.	.	.	.	T	15.08	2.726589	0.48833	.	.	ENSG00000164117	ENST00000393674;ENST00000503293;ENST00000296517	T;T	0.63096	-0.02;-0.02	5.52	5.52	0.82312	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	L	0.41632	1.29	0.58432	D	0.999991	B;B	0.31485	0.278;0.325	B;B	0.33454	0.102;0.164	T	0.60026	-0.7343	10	0.66056	D	0.02	.	15.6445	0.77036	0.0:0.0:0.0:1.0	.	270;311	G5E9Z0;Q9NRD0	.;FBX8_HUMAN	V	311;270;224	ENSP00000377280:I311V;ENSP00000422905:I270V	ENSP00000296517:I224V	I	-	1	0	FBXO8	175395167	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.198000	0.77823	2.096000	0.63516	0.533000	0.62120	ATC		0.383	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180		24	61	0	0	0	1	0	24	61				
NRXN3	9369	broad.mit.edu	37	14	80158594	80158594	+	Intron	SNP	T	T	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr14:80158594T>C	ENST00000557594.1	+	4	1554				NRXN3_ENST00000281127.7_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.L227P|NRXN3_ENST00000556003.1_Intron	NM_001272020.1	NP_001258949.1	Q9HDB5	NRX3B_HUMAN	neurexin 3						adult behavior (GO:0030534)|angiogenesis (GO:0001525)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAGGAGTGGCTGCAGGAAAAA	0.333																																						ENST00000428277.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104						c.(679-681)cTg>cCg		neurexin 3							48.0	46.0	46.0					14																	80158594		1804	4074	5878	SO:0001627	intron_variant	9369				angiogenesis|cell adhesion	integral to membrane		g.chr14:80158594T>C	AB018286	CCDS9870.1, CCDS9871.1, CCDS45145.1, CCDS61515.1	14q31	2010-01-19				ENSG00000021645			8010	protein-coding gene	gene with protein product		600567	"""chromosome 14 open reading frame 60"""	C14orf60		11944992, 12379233	Standard	NM_004796		Approved	KIAA0743	uc001xun.4	Q9HDB5		ENST00000557594.1:c.602-5379T>C	14.37:g.80158594T>C						NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000556003.1_Intron|NRXN3_ENST00000335750.5_Intron|RP11-242P2.1_ENST00000553322.1_RNA|NRXN3_ENST00000281127.7_Intron|NRXN3_ENST00000557594.1_Intron	p.L227P	NM_001105250.1	NP_001098720.1	Q9HDB5	NRX3B_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)	4	1066	+		Renal(4;0.00876)	200			Laminin G-like.		A5PKW8|A8MPU5|B3KPM7|Q6NUR0|Q8IUD8	Missense_Mutation	SNP	ENST00000557594.1	37	c.680T>C		.	.	.	.	.	.	.	.	.	.	T	15.54	2.864040	0.51482	.	.	ENSG00000021645	ENST00000332068;ENST00000428277	T	0.44482	0.92	5.45	5.45	0.79879	.	.	.	.	.	T	0.61464	0.2349	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.63484	-0.6627	7	.	.	.	.	10.7265	0.46072	0.1421:0.0:0.0:0.8579	.	227	Q9HDB5-4	.	P	1221;227	ENSP00000394426:L227P	.	L	+	2	0	NRXN3	79228347	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.149000	0.71795	2.066000	0.61787	0.528000	0.53228	CTG		0.333	NRXN3-004	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000413790.1	NM_001105250		4	24	0	0	0	1	0	4	24				
ABCF3	55324	broad.mit.edu	37	3	183905522	183905522	+	Missense_Mutation	SNP	A	A	G			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr3:183905522A>G	ENST00000429586.2	+	5	604	c.419A>G	c.(418-420)aAg>aGg	p.K140R	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.K134R	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	140					defense response to virus (GO:0051607)	membrane (GO:0016020)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCTCAGAGAAGGACACGCTC	0.532																																						ENST00000429586.2																			0				breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39						c.(418-420)aAg>aGg		ATP-binding cassette, sub-family F (GCN20), member 3							81.0	72.0	75.0					3																	183905522		2203	4300	6503	SO:0001583	missense	55324						ATP binding|ATPase activity	g.chr3:183905522A>G	U66685	CCDS3254.1	3q27.1	2012-05-16			ENSG00000161204	ENSG00000161204		"""ATP binding cassette transporters / subfamily F"""	72	protein-coding gene	gene with protein product						8894702	Standard	NM_018358		Approved	EST201864	uc003fmz.2	Q9NUQ8	OTTHUMG00000156824	ENST00000429586.2:c.419A>G	3.37:g.183905522A>G	ENSP00000411471:p.Lys140Arg					ABCF3_ENST00000292808.5_Missense_Mutation_p.K134R|EIF2B5_ENST00000444495.1_Intron	p.K140R	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		5	604	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		140					A8K241|Q86UA2|Q8NAN1|Q96GS8|Q9H7A8	Missense_Mutation	SNP	ENST00000429586.2	37	c.419A>G	CCDS3254.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.899356	0.33535	.	.	ENSG00000161204	ENST00000429586;ENST00000292808	D;D	0.92199	-2.99;-2.96	4.57	3.41	0.39046	.	0.208574	0.36338	N	0.002652	D	0.82962	0.5151	N	0.25094	0.71	0.32415	N	0.550118	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.001	T	0.75858	-0.3169	10	0.28530	T	0.3	-16.0761	5.822	0.18532	0.6896:0.0:0.3104:0.0	.	134;140	Q9NUQ8-2;Q9NUQ8	.;ABCF3_HUMAN	R	140;134	ENSP00000411471:K140R;ENSP00000292808:K134R	ENSP00000292808:K134R	K	+	2	0	ABCF3	185388216	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.279000	0.43435	0.632000	0.30432	0.379000	0.24179	AAG		0.532	ABCF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346047.1	NM_018358		72	94	0	0	0	1	0	72	94				
MFSD6	54842	broad.mit.edu	37	2	191362215	191362216	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:191362215_191362216insT	ENST00000392328.1	+	7	2266_2267	c.1942_1943insT	c.(1942-1944)atafs	p.I648fs	MFSD6_ENST00000281416.7_Frame_Shift_Ins_p.I648fs|MFSD6_ENST00000535751.1_Frame_Shift_Ins_p.I110fs	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	648					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						TCCCGTTCCTATAGCAACCATC	0.426																																						ENST00000392328.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						c.(1942-1944)agcfs		major facilitator superfamily domain containing 6																																				SO:0001589	frameshift_variant	54842				transmembrane transport	integral to membrane		g.chr2:191362215_191362216insT		CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1943dupT	2.37:g.191362216_191362216dupT	ENSP00000376141:p.Ile648fs					MFSD6_ENST00000535751.1_Frame_Shift_Ins_p.S110fs|MFSD6_ENST00000281416.7_Frame_Shift_Ins_p.S648fs	p.S648fs	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN			7	2266_2267	+			648					D3KSZ4|Q86TH2|Q9NXM3	Frame_Shift_Ins	INS	ENST00000392328.1	37	c.1942_1943insT	CCDS2306.1																																																																																				0.426	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255931.1			47	157						47	157	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220506439	220506440	+	Frame_Shift_Ins	INS	-	-	T			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr2:220506439_220506440insT	ENST00000358055.3	+	23	4200_4201	c.3688_3689insT	c.(3688-3690)atgfs	p.M1230fs	SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.M1230fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.M1257fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.M1230fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.M1257fs			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1230	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGCTGCACATGCCAGTGTGA	0.594																																						ENST00000358055.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(3688-3690)gccfs		solute carrier family 4 (anion exchanger), member 3																																				SO:0001589	frameshift_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220506439_220506440insT		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3689dupT	2.37:g.220506440_220506440dupT	ENSP00000350756:p.Met1230fs					SLC4A3_ENST00000317151.3_Frame_Shift_Ins_p.A1230fs|SLC4A3_ENST00000273063.6_Frame_Shift_Ins_p.A1257fs|SLC4A3_ENST00000373762.3_Frame_Shift_Ins_p.A1257fs|SLC4A3_ENST00000373760.2_Frame_Shift_Ins_p.A1230fs	p.A1230fs			P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	23	4200_4201	+		Renal(207;0.0183)	1230			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Frame_Shift_Ins	INS	ENST00000358055.3	37	c.3688_3689insT	CCDS2445.1																																																																																				0.594	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		17	28						17	28	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32521843	32521844	+	RNA	DEL	CT	CT	-	rs67101368		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr6:32521843_32521844delCT	ENST00000411500.1	-	0	740					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		AGAAGGCTACCTCCTGTAAGAA	0.356																																						ENST00000411500.1																			0																																																			3128							g.chr6:32521843_32521844delCT	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32521843_32521844delCT								NR_001298.1						0	740	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.356	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		2	4						2	4	---	---	---	---
SNORA26	677810	broad.mit.edu	37	9	89875500	89875500	+	RNA	DEL	A	A	-			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr9:89875500delA	ENST00000391119.1	+	0	136									small nucleolar RNA, H/ACA box 26																		GAGCCACAGCaaaaaaaaaaa	0.363																																						ENST00000391119.1																			0																																																			677810							g.chr9:89875500delA			4q12	2013-09-05			ENSG00000212588	ENSG00000212588		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32616	non-coding RNA	RNA, small nucleolar		614626				11387227, 16381836	Standard	NR_003016		Approved	HBI-6	uc021wzl.1				9.37:g.89875500delA														0	136	+									RNA	DEL	ENST00000391119.1	37																																																																																						0.363	SNORA26.3-201	NOVEL	basic	snoRNA	snoRNA		NR_003016		3	4						3	4	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30736370	30736371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:30736370_30736371insC	ENST00000262518.4	+	25	6010_6011	c.5625_5626insC	c.(5626-5628)cccfs	p.P1876fs	SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.P1718fs|SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.P1814fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1876	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(5623-5628)caccccfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30736370_30736371insC	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5633dupC	16.37:g.30736378_30736378dupC	ENSP00000262518:p.Pro1876fs					SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs	p.HP1875fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	6010_6011	+			1875			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Ins	INS	ENST00000262518.4	37	c.5625_5626insC	CCDS10689.2																																																																																				0.569	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		8	158						8	158	---	---	---	---
WDR59	79726	broad.mit.edu	37	16	74927630	74927631	+	Frame_Shift_Ins	INS	-	-	A			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr16:74927630_74927631insA	ENST00000262144.6	-	19	2076_2077	c.1946_1947insT	c.(1945-1947)atcfs	p.I649fs		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	649										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CAATATCCTGGATGATGACTTT	0.465																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(1945-1947)acafs		WD repeat domain 59																																				SO:0001589	frameshift_variant	79726							g.chr16:74927630_74927631insA	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.1947dupT	16.37:g.74927631_74927631dupA	ENSP00000262144:p.Ile649fs						p.T649fs	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			19	2076_2077	-			649					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Frame_Shift_Ins	INS	ENST00000262144.6	37	c.1946_1947insT	CCDS32488.1																																																																																				0.465	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		29	68						29	68	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578406	7578414	+	In_Frame_Del	DEL	CGCCTCACA	CGCCTCACA	-	rs138729528|rs28934578		TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:7578406_7578414delCGCCTCACA	ENST00000269305.4	-	5	705_713	c.516_524delTGTGAGGCG	c.(514-525)gttgtgaggcgc>gtc	p.VRR173del	TP53_ENST00000413465.2_In_Frame_Del_p.VRR173del|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_In_Frame_Del_p.VRR173del|TP53_ENST00000359597.4_In_Frame_Del_p.VRR173del|TP53_ENST00000455263.2_In_Frame_Del_p.VRR173del|TP53_ENST00000445888.2_In_Frame_Del_p.VRR173del	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R175H(847)|p.V173L(68)|p.V173M(46)|p.R43H(36)|p.R82H(36)|p.R175G(20)|p.R175L(19)|p.R175C(19)|p.V173A(12)|p.R174W(12)|p.V173V(8)|p.0?(8)|p.R175P(6)|p.V173G(6)|p.V80L(6)|p.V41L(6)|p.R175S(5)|p.V173fs*1(4)|p.R174fs*73(4)|p.V172V(4)|p.R174K(4)|p.R174fs*24(3)|p.R43G(3)|p.V173fs*7(3)|p.V80M(3)|p.R82G(3)|p.V41M(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.R175fs*5(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174M(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.V80fs*7(1)|p.R175_H178>X(1)|p.V173W(1)|p.R175fs*6(1)|p.V173fs*8(1)|p.R42fs*24(1)|p.R81W(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.R174G(1)|p.R42W(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.E171_V172delEV(1)|p.V41fs*7(1)|p.R174fs*3(1)|p.R174fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTGGGGGCAGCGCCTCACAACCTCCGTCA	0.651	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		1246	Substitution - Missense(1173)|Deletion - Frameshift(34)|Substitution - coding silent(14)|Deletion - In frame(11)|Whole gene deletion(8)|Insertion - Frameshift(3)|Complex - deletion inframe(3)	p.R175H(847)|p.V173L(68)|p.V173M(46)|p.R43H(36)|p.R82H(36)|p.R175G(20)|p.R175L(19)|p.R175C(19)|p.V173A(12)|p.R174W(12)|p.V173V(8)|p.0?(8)|p.R175P(6)|p.V173G(6)|p.V80L(6)|p.V41L(6)|p.R175S(5)|p.V173fs*1(4)|p.R174fs*73(4)|p.V172V(4)|p.R174K(4)|p.R174fs*24(3)|p.R43G(3)|p.V173fs*7(3)|p.V80M(3)|p.R82G(3)|p.V41M(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.R175fs*5(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174M(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.T170fs*8(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.V173E(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.V80fs*7(1)|p.R175_H178>X(1)|p.V173W(1)|p.R175fs*6(1)|p.V173fs*8(1)|p.R42fs*24(1)|p.R81W(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.R174G(1)|p.R42W(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(1)|p.E171_V172delEV(1)|p.V41fs*7(1)|p.R174fs*3(1)|p.R174fs*7(1)	large_intestine(402)|breast(120)|upper_aerodigestive_tract(107)|stomach(89)|lung(83)|central_nervous_system(83)|oesophagus(80)|ovary(72)|haematopoietic_and_lymphoid_tissue(51)|urinary_tract(27)|liver(27)|prostate(19)|biliary_tract(14)|pancreas(12)|endometrium(11)|bone(11)|skin(10)|cervix(7)|kidney(6)|vulva(5)|soft_tissue(4)|autonomic_ganglia(2)|salivary_gland(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM011013|CM062017|CM070299|CM942119|CM951224	TP53	M	rs138729528|rs28934578	c.(514-525)gtc>gt	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001651	inframe_deletion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406_7578414delCGCCTCACA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.516_524delTGTGAGGCG	17.37:g.7578406_7578414delCGCCTCACA	ENSP00000269305:p.Val173_Arg175del	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_In_Frame_Del_p.VVRR172del|TP53_ENST00000455263.2_In_Frame_Del_p.VVRR172del|TP53_ENST00000359597.4_In_Frame_Del_p.VVRR172del|TP53_ENST00000445888.2_In_Frame_Del_p.VVRR172del|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_In_Frame_Del_p.VVRR172del	p.VVRR172del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	648_656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	172		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	ENST00000269305.4	37	c.516_524delTGTGAGGCG	CCDS11118.1																																																																																				0.651	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		25	43						25	43	---	---	---	---
RAB37	326624	broad.mit.edu	37	17	72741214	72741217	+	Frame_Shift_Del	DEL	CCAT	CCAT	-			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr17:72741214_72741217delCCAT	ENST00000392613.5	+	8	613_616	c.557_560delCCAT	c.(556-561)gccatcfs	p.AI186fs	RAB37_ENST00000340415.3_Frame_Shift_Del_p.AI179fs|RAB37_ENST00000528438.1_Frame_Shift_Del_p.AI159fs|MIR3615_ENST00000585285.1_RNA|RAB37_ENST00000402449.4_Frame_Shift_Del_p.AI179fs|RAB37_ENST00000392612.3_Frame_Shift_Del_p.AI149fs|RAB37_ENST00000392614.4_Frame_Shift_Del_p.AI191fs|RAB37_ENST00000392615.5_Frame_Shift_Del_p.AI154fs|RAB37_ENST00000392610.1_Frame_Shift_Del_p.AI186fs	NM_001006638.2	NP_001006639.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	186					protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|secretory granule (GO:0030141)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GCCTTTCTGGCCATCGCCAAGTGA	0.647											OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000340415.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						c.(535-540)gcfs		RAB37, member RAS oncogene family																																				SO:0001589	frameshift_variant	326624				protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding	g.chr17:72741214_72741217delCCAT	BC040547	CCDS11703.1, CCDS32722.1, CCDS54161.1, CCDS54162.1	17q25.2	2008-02-05			ENSG00000172794	ENSG00000172794		"""RAB, member RAS oncogene"""	30268	protein-coding gene	gene with protein product		609956				10722846	Standard	NM_175738		Approved		uc002jlk.3	Q96AX2	OTTHUMG00000134282	ENST00000392613.5:c.557_560delCCAT	17.37:g.72741214_72741217delCCAT	ENSP00000376389:p.Ala186fs		OREG0024716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1139	RAB37_ENST00000392614.4_Frame_Shift_Del_p.AI191fs|RAB37_ENST00000392612.3_Frame_Shift_Del_p.AI149fs|RAB37_ENST00000392610.1_Frame_Shift_Del_p.AI186fs|RAB37_ENST00000402449.4_Frame_Shift_Del_p.AI179fs|RAB37_ENST00000392613.5_Frame_Shift_Del_p.AI186fs|RAB37_ENST00000528438.1_Frame_Shift_Del_p.AI159fs|RAB37_ENST00000392615.5_Frame_Shift_Del_p.AI154fs	p.AI179fs	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN			8	1545_1548	+			186					A8MXF5|A8MYT0|Q8IWA7	Frame_Shift_Del	DEL	ENST00000392613.5	37	c.536_539delCCAT	CCDS32722.1																																																																																				0.647	RAB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258872.2	NM_175738		18	48						18	48	---	---	---	---
LAMA3	3909	broad.mit.edu	37	18	21512157	21512157	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F7-A61V-01A-11D-A28R-08	TCGA-F7-A61V-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4869fbd-9edb-4819-8ca4-b290c357b082	cbe9c39a-c05d-4252-b3cb-76cabc0fb3f7	g.chr18:21512157delA	ENST00000313654.9	+	66	8851	c.8610delA	c.(8608-8610)agafs	p.R2870fs	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Frame_Shift_Del_p.R1261fs|LAMA3_ENST00000587184.1_Frame_Shift_Del_p.R1205fs|LAMA3_ENST00000399516.3_Frame_Shift_Del_p.R2814fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2870	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AGCTTCTGAGAAATAGCAAAA	0.473																																						ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(8608-8610)agfs		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						126.0	122.0	124.0					18																	21512157		2203	4300	6503	SO:0001589	frameshift_variant	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21512157delA	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.8610delA	18.37:g.21512157delA	ENSP00000324532:p.Arg2870fs					LAMA3_ENST00000399516.3_Frame_Shift_Del_p.R2814fs|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Frame_Shift_Del_p.R1205fs|LAMA3_ENST00000269217.6_Frame_Shift_Del_p.R1261fs	p.R2870fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			66	8851	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		2870			Laminin G-like 3.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Frame_Shift_Del	DEL	ENST00000313654.9	37	c.8610delA	CCDS42419.1																																																																																				0.473	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		54	107						54	107	---	---	---	---
