#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PIK3CD	5293	broad.mit.edu	37	1	9776098	9776098	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:9776098C>T	ENST00000377346.4	+	5	757	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W	PIK3CD_ENST00000361110.2_Missense_Mutation_p.R188W|PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000536656.1_Missense_Mutation_p.R188W	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	188	PI3K-RBD. {ECO:0000255|PROSITE- ProRule:PRU00879}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	GCTCCCGAACCGGGCCCTTCT	0.657																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(562-564)Cgg>Tgg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							12.0	15.0	14.0					1																	9776098		2187	4268	6455	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9776098C>T		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.562C>T	1.37:g.9776098C>T	ENSP00000366563:p.Arg188Trp					PIK3CD_ENST00000361110.2_Missense_Mutation_p.R188W|PIK3CD_ENST00000377346.4_Missense_Mutation_p.R188W	p.R188W			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	5	770	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	188					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.562C>T	CCDS104.1	.	.	.	.	.	.	.	.	.	.	C	18.77	3.693871	0.68386	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	T;T;T	0.45668	0.89;0.89;0.89	5.04	4.09	0.47781	Phosphoinositide 3-kinase, ras-binding (2);	0.253351	0.38837	N	0.001542	T	0.53417	0.1795	L	0.46157	1.445	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.997	P;D;P	0.67548	0.882;0.952;0.882	T	0.54470	-0.8289	10	0.72032	D	0.01	-28.9157	11.6944	0.51536	0.2942:0.7058:0.0:0.0	.	188;188;188	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	W	188	ENSP00000446444:R188W;ENSP00000366563:R188W;ENSP00000354410:R188W	ENSP00000353766:R188W	R	+	1	2	PIK3CD	9698685	0.959000	0.32827	0.694000	0.30210	0.713000	0.41058	1.671000	0.37513	2.619000	0.88677	0.561000	0.74099	CGG		0.657	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		6	16	6	16	---	---	---	---
NBPF1	55672	broad.mit.edu	37	1	16893756	16893756	+	Silent	SNP	T	T	C			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:16893756T>C	ENST00000430580.2	-	25	3644	c.2757A>G	c.(2755-2757)gaA>gaG	p.E919E	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	919	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTCAGTCAGTTCAAGATAAC	0.488																																						ENST00000430580.2																			0											c.(2755-2757)gaA>gaG		neuroblastoma breakpoint family, member 1							830.0	724.0	760.0					1																	16893756		2203	4298	6501	SO:0001819	synonymous_variant	55672					cytoplasm		g.chr1:16893756T>C	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.2757A>G	1.37:g.16893756T>C						NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	p.E919E	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	25	3644	-			919			NBPF 5.		Q8N4E8|Q9C0H0	Silent	SNP	ENST00000430580.2	37	c.2757A>G																																																																																					0.488	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		26	2935	26	2935	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152277018	152277018	+	Silent	SNP	G	G	A			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:152277018G>A	ENST00000368799.1	-	3	10379	c.10344C>T	c.(10342-10344)tcC>tcT	p.S3448S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3448	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)			GCTCGTAGTGGGATCCCTGCC	0.602									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.(10342-10344)tcC>tcT		filaggrin							362.0	342.0	349.0					1																	152277018		2203	4299	6502	SO:0001819	synonymous_variant	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.chr1:152277018G>A	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.10344C>T	1.37:g.152277018G>A						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.S3448S	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3448			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.10344C>T	CCDS30860.1																																																																																				0.602	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		45	359	45	359	---	---	---	---
CACNA1E	777	broad.mit.edu	37	1	181546961	181546961	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:181546961C>A	ENST00000367573.2	+	4	572	c.572C>A	c.(571-573)gCt>gAt	p.A191D	CACNA1E_ENST00000358338.5_Missense_Mutation_p.A142D|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.A191D|CACNA1E_ENST00000526775.1_Missense_Mutation_p.A191D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A142D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A191D	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	191					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.A191V(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCCTCCGGGCTGTGCGTGTC	0.547																																						ENST00000526775.1																			1	Substitution - Missense(1)	p.A191V(1)	skin(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(571-573)gCt>gAt		calcium channel, voltage-dependent, R type, alpha 1E subunit							61.0	65.0	63.0					1																	181546961		2010	4177	6187	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181546961C>A	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.572C>A	1.37:g.181546961C>A	ENSP00000356545:p.Ala191Asp					CACNA1E_ENST00000367570.1_Missense_Mutation_p.A191D|CACNA1E_ENST00000367573.2_Missense_Mutation_p.A191D|CACNA1E_ENST00000358338.5_Missense_Mutation_p.A142D|CACNA1E_ENST00000357570.5_Missense_Mutation_p.A142D|CACNA1E_ENST00000360108.3_Missense_Mutation_p.A191D|CACNA1E_ENST00000367567.4_5'UTR	p.A191D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			4	737	+			191					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.572C>A	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	35	5.519586	0.96416	.	.	ENSG00000198216	ENST00000524607;ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.98777	-5.13;-5.13;-5.13;-5.13;-5.13;-5.13;-5.13	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	D	0.99576	0.9847	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97885	1.0294	10	0.87932	D	0	.	20.017	0.97481	0.0:1.0:0.0:0.0	.	191;191	Q15878-2;Q15878-3	.;.	D	191;191;191;142;142;191;191	ENSP00000432038:A191D;ENSP00000356542:A191D;ENSP00000434814:A191D;ENSP00000350183:A142D;ENSP00000351101:A142D;ENSP00000353222:A191D;ENSP00000356545:A191D	ENSP00000350183:A142D	A	+	2	0	CACNA1E	179813584	1.000000	0.71417	0.997000	0.53966	0.997000	0.91878	7.711000	0.84669	2.832000	0.97577	0.655000	0.94253	GCT		0.547	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		3	14	3	14	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685230	248685230	+	Missense_Mutation	SNP	G	G	A	rs148238174		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr1:248685230G>A	ENST00000343414.4	+	1	315	c.283G>A	c.(283-285)Ggt>Agt	p.G95S		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	95						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGAGCTACGGTGGCTGTGT	0.537																																						ENST00000343414.4																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(283-285)Ggt>Agt		olfactory receptor, family 2, subfamily G, member 6		G	SER/GLY	0,4406		0,0,2203	119.0	115.0	116.0		283	1.5	0.0	1	dbSNP_134	116	1,8599		0,1,4299	no	missense	OR2G6	NM_001013355.1	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	95/317	248685230	1,13005	2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685230G>A		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.283G>A	1.37:g.248685230G>A	ENSP00000341291:p.Gly95Ser						p.G95S	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	315	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	95					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.283G>A	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	4.605	0.112449	0.08831	0.0	1.16E-4	ENSG00000188558	ENST00000343414	T	0.00388	7.59	3.68	1.45	0.22620	GPCR, rhodopsin-like superfamily (1);	0.562519	0.15139	U	0.278416	T	0.00144	0.0004	N	0.17764	0.52	0.09310	N	1	B	0.34255	0.445	B	0.23419	0.046	T	0.23797	-1.0178	10	0.26408	T	0.33	.	4.9973	0.14245	0.1336:0.0:0.6545:0.2119	.	95	Q5TZ20	OR2G6_HUMAN	S	95	ENSP00000341291:G95S	ENSP00000341291:G95S	G	+	1	0	OR2G6	246751853	0.000000	0.05858	0.005000	0.12908	0.094000	0.18550	-2.753000	0.00791	0.672000	0.31204	0.400000	0.26472	GGT		0.537	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		20	60	20	60	---	---	---	---
RGPD4	285190	broad.mit.edu	37	2	108487639	108487639	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:108487639T>G	ENST00000408999.3	+	20	3256	c.3179T>G	c.(3178-3180)cTg>cGg	p.L1060R	RGPD4_ENST00000354986.4_Missense_Mutation_p.L1060R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1060	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GAAAAAGTTCTGTATTCACAG	0.393																																						ENST00000408999.3																			0				breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						c.(3178-3180)cTg>cGg		RANBP2-like and GRIP domain containing 4							10.0	8.0	8.0					2																	108487639		681	1560	2241	SO:0001583	missense	285190				intracellular transport		binding	g.chr2:108487639T>G	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.3179T>G	2.37:g.108487639T>G	ENSP00000386810:p.Leu1060Arg					RGPD4_ENST00000354986.4_Missense_Mutation_p.L1060R	p.L1060R	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN			20	3256	+			1060			RanBD1 1.		B9A029	Missense_Mutation	SNP	ENST00000408999.3	37	c.3179T>G	CCDS46381.1	.	.	.	.	.	.	.	.	.	.	-	8.949	0.967792	0.18659	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000439322	T;T	0.58210	0.35;0.35	2.33	2.33	0.28932	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.75591	0.3870	M	0.92507	3.315	0.27189	N	0.960459	D	0.76494	0.999	D	0.77557	0.99	T	0.64841	-0.6312	9	0.72032	D	0.01	-19.8587	9.2036	0.37275	0.0:0.0:0.0:1.0	.	1060	Q7Z3J3	RGPD4_HUMAN	R	1060;1060;818	ENSP00000347081:L1060R;ENSP00000386810:L1060R	ENSP00000347081:L1060R	L	+	2	0	RGPD4	107854071	1.000000	0.71417	0.998000	0.56505	0.051000	0.14879	5.932000	0.70121	1.072000	0.40860	0.136000	0.15936	CTG		0.393	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330096.2	XM_496581		108	506	108	506	---	---	---	---
BCL2L11	10018	broad.mit.edu	37	2	111907651	111907651	+	Missense_Mutation	SNP	T	T	A	rs114585494	byFrequency	TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:111907651T>A	ENST00000393256.3	+	3	698	c.425T>A	c.(424-426)aTg>aAg	p.M142K	BCL2L11_ENST00000357757.2_Missense_Mutation_p.M142K|BCL2L11_ENST00000393253.2_Missense_Mutation_p.M52K|BCL2L11_ENST00000308659.8_Missense_Mutation_p.M82K	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	142					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|apoptotic signaling pathway (GO:0097190)|B cell apoptotic process (GO:0001783)|B cell homeostasis (GO:0001782)|brain development (GO:0007420)|cell-matrix adhesion (GO:0007160)|cellular process regulating host cell cycle in response to virus (GO:0060154)|developmental pigmentation (GO:0048066)|ear development (GO:0043583)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mammary gland development (GO:0030879)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic process by virus (GO:0060139)|positive regulation of cell cycle (GO:0045787)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|post-embryonic organ morphogenesis (GO:0048563)|regulation of developmental pigmentation (GO:0048070)|regulation of organ growth (GO:0046620)|response to endoplasmic reticulum stress (GO:0034976)|spermatogenesis (GO:0007283)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|thymocyte apoptotic process (GO:0070242)|thymus development (GO:0048538)|tube formation (GO:0035148)	BIM-BCL-2 complex (GO:0097141)|BIM-BCL-xl complex (GO:0097140)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)|mitochondrial outer membrane (GO:0005741)				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						CCTGCAGATATGCGCCCAGAG	0.448																																						ENST00000393256.3																			0				endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						c.(424-426)aTg>aAg		BCL2-like 11 (apoptosis facilitator)							132.0	103.0	113.0					2																	111907651		2203	4300	6503	SO:0001583	missense	10018				activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding	g.chr2:111907651T>A	AF032458	CCDS2089.1, CCDS2092.1, CCDS42731.1, CCDS56131.1, CCDS56132.1, CCDS56133.1, CCDS56134.1, CCDS56135.1, CCDS56136.1, CCDS74560.1, CCDS74561.1, CCDS74559.1	2q13	2014-09-17			ENSG00000153094	ENSG00000153094			994	protein-coding gene	gene with protein product		603827				9731710, 9430630	Standard	NM_006538		Approved	BOD, BimL, BimEL, BimS, BIM	uc002tgv.1	O43521	OTTHUMG00000131256	ENST00000393256.3:c.425T>A	2.37:g.111907651T>A	ENSP00000376943:p.Met142Lys					BCL2L11_ENST00000308659.8_Missense_Mutation_p.M82K|BCL2L11_ENST00000357757.2_Missense_Mutation_p.M142K|BCL2L11_ENST00000393253.2_Missense_Mutation_p.M52K	p.M142K	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN			3	698	+			142					A8K2W2|O43522|Q0MSE7|Q0MSE8|Q0MSE9|Q53R28|Q6JTU6|Q6T851|Q6TE14|Q6TE15|Q6TE16|Q6V402|Q8WYL6|Q8WYL7|Q8WYL8|Q8WYL9|Q8WYM0|Q8WYM1	Missense_Mutation	SNP	ENST00000393256.3	37	c.425T>A	CCDS2089.1	.	.	.	.	.	.	.	.	.	.	T	15.69	2.908828	0.52439	.	.	ENSG00000153094	ENST00000308659;ENST00000357757;ENST00000393253;ENST00000393256;ENST00000452033	.	.	.	5.98	3.56	0.40772	Bcl-x interacting (1);	0.476832	0.21345	N	0.076065	T	0.41926	0.1180	L	0.27053	0.805	0.80722	D	1	B;B;B	0.22211	0.062;0.02;0.066	B;B;B	0.16722	0.015;0.016;0.014	T	0.27226	-1.0080	9	0.87932	D	0	0.5293	7.8793	0.29612	0.0:0.1643:0.0:0.8357	.	52;142;82	O43521-3;O43521;O43521-2	.;B2L11_HUMAN;.	K	82;142;52;142;9	.	ENSP00000309226:M82K	M	+	2	0	BCL2L11	111624122	0.965000	0.33210	0.538000	0.28064	0.970000	0.65996	1.697000	0.37784	0.488000	0.27723	0.533000	0.62120	ATG		0.448	BCL2L11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254022.3			5	45	5	45	---	---	---	---
NBEAL1	65065	broad.mit.edu	37	2	204073899	204073899	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:204073899A>G	ENST00000449802.1	+	52	7885	c.7552A>G	c.(7552-7554)Ata>Gta	p.I2518V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2518										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AACGGTGATTATACATACCAT	0.388																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(7552-7554)Ata>Gta		neurobeachin-like 1							122.0	112.0	115.0					2																	204073899		1883	4104	5987	SO:0001583	missense	65065						binding	g.chr2:204073899A>G	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7552A>G	2.37:g.204073899A>G	ENSP00000399903:p.Ile2518Val						p.I2518V	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			52	7885	+			2518					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.7552A>G	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	A	9.333	1.061057	0.19987	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.60040	0.22;0.22	5.26	2.85	0.33270	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.139426	0.46442	U	0.000282	T	0.33876	0.0878	N	0.12527	0.23	0.41000	D	0.984921	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.12837	0.004;0.003;0.008	T	0.06463	-1.0825	10	0.17369	T	0.5	.	8.6629	0.34103	0.7731:0.0:0.2269:0.0	.	1228;2518;2507	D1MPS9;Q6ZS30;C9JGK5	.;NBEL1_HUMAN;.	V	2518;2449;533	ENSP00000399903:I2518V;ENSP00000388466:I533V	ENSP00000344985:I2449V	I	+	1	0	NBEAL1	203782144	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.814000	0.48010	0.313000	0.23062	0.377000	0.23210	ATA		0.388	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			22	85	22	85	---	---	---	---
FZD5	7855	broad.mit.edu	37	2	208632400	208632400	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:208632400C>A	ENST00000295417.3	-	2	1617	c.1064G>T	c.(1063-1065)gGc>gTc	p.G355V		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled class receptor 5	355					angiogenesis (GO:0001525)|anterior/posterior axis specification, embryo (GO:0008595)|apoptotic process (GO:0006915)|apoptotic process involved in morphogenesis (GO:0060561)|axonogenesis (GO:0007409)|brain development (GO:0007420)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|canonical Wnt signaling pathway (GO:0060070)|cell maturation (GO:0048469)|cellular response to molecule of bacterial origin (GO:0071219)|chorionic trophoblast cell differentiation (GO:0060718)|embryonic axis specification (GO:0000578)|embryonic camera-type eye development (GO:0031076)|gonad development (GO:0008406)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|neuron differentiation (GO:0030182)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic camera-type eye development (GO:0031077)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of chorionic trophoblast cell proliferation (GO:1901382)|regulation of tight junction assembly (GO:2000810)|Spemann organizer formation (GO:0060061)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell differentiation in thymus (GO:0033077)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	cell projection (GO:0042995)|cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		CTGCGCGTAGCCCGCGATGGC	0.662																																						ENST00000295417.3																			0				NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7						c.(1063-1065)gGc>gTc		frizzled family receptor 5							62.0	55.0	58.0					2																	208632400		2203	4300	6503	SO:0001583	missense	7855				angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding	g.chr2:208632400C>A	U43318	CCDS33366.1	2q33.3	2014-01-29	2014-01-29		ENSG00000163251	ENSG00000163251		"""GPCR / Class F : Frizzled receptors"""	4043	protein-coding gene	gene with protein product		601723	"""frizzled (Drosophila) homolog 5"", ""chromosome 2 open reading frame 31"", ""frizzled homolog 5 (Drosophila)"", ""frizzled 5, seven transmembrane spanning receptor"", ""frizzled family receptor 5"""	C2orf31		8626800, 11408929	Standard	NM_003468		Approved	HFZ5, DKFZP434E2135	uc002vcj.3	Q13467	OTTHUMG00000154790	ENST00000295417.3:c.1064G>T	2.37:g.208632400C>A	ENSP00000354607:p.Gly355Val						p.G355V	NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)	2	1617	-			355					A8K2X1|B2RCZ1|Q53R22	Missense_Mutation	SNP	ENST00000295417.3	37	c.1064G>T	CCDS33366.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080418	0.76528	.	.	ENSG00000163251	ENST00000295417	D	0.82081	-1.57	5.01	5.01	0.66863	GPCR, family 2-like (1);	0.219359	0.47455	U	0.000240	D	0.89396	0.6703	M	0.84683	2.71	0.80722	D	1	P	0.34699	0.464	P	0.45794	0.493	D	0.90581	0.4529	10	0.72032	D	0.01	.	18.3258	0.90254	0.0:1.0:0.0:0.0	.	355	Q13467	FZD5_HUMAN	V	355	ENSP00000354607:G355V	ENSP00000354607:G355V	G	-	2	0	FZD5	208340645	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.818000	0.86416	2.333000	0.79357	0.561000	0.74099	GGC		0.662	FZD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337060.1	NM_003468		3	18	3	18	---	---	---	---
DOCK10	55619	broad.mit.edu	37	2	225719727	225719727	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:225719727G>T	ENST00000258390.7	-	16	1908	c.1841C>A	c.(1840-1842)cCt>cAt	p.P614H	DOCK10_ENST00000409592.3_Missense_Mutation_p.P608H	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	614					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CAGGCTTCCAGGAATGGTCTG	0.428																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(1822-1824)cCt>cAt		dedicator of cytokinesis 10							91.0	93.0	92.0					2																	225719727		1993	4165	6158	SO:0001583	missense	55619						GTP binding	g.chr2:225719727G>T	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.1841C>A	2.37:g.225719727G>T	ENSP00000258390:p.Pro614His					DOCK10_ENST00000258390.7_Missense_Mutation_p.P614H	p.P608H			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	16	1936	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	614					B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	ENST00000258390.7	37	c.1823C>A	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662912	0.88251	.	.	ENSG00000135905	ENST00000409592;ENST00000258390	T;T	0.24908	1.83;1.83	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	M	0.89287	3.02	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.979	T	0.67469	-0.5663	10	0.72032	D	0.01	.	19.3479	0.94372	0.0:0.0:1.0:0.0	.	614;608	Q96BY6;B3FL70	DOC10_HUMAN;.	H	608;614	ENSP00000386694:P608H;ENSP00000258390:P614H	ENSP00000258390:P614H	P	-	2	0	DOCK10	225427971	1.000000	0.71417	0.961000	0.40146	0.909000	0.53808	6.194000	0.72082	2.632000	0.89209	0.643000	0.83706	CCT		0.428	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			3	16	3	16	---	---	---	---
UBA7	7318	broad.mit.edu	37	3	49845862	49845862	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr3:49845862A>C	ENST00000333486.3	-	19	2545	c.2387T>G	c.(2386-2388)gTc>gGc	p.V796G	MIR5193_ENST00000584510.1_RNA	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	796					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CACACTCCAGACTTCCAGGGC	0.587																																						ENST00000333486.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33						c.(2386-2388)gTc>gGc		ubiquitin-like modifier activating enzyme 7							132.0	139.0	136.0					3																	49845862		2203	4300	6503	SO:0001583	missense	7318				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity	g.chr3:49845862A>C	BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.2387T>G	3.37:g.49845862A>C	ENSP00000333266:p.Val796Gly						p.V796G	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN		BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	19	2545	-			796					Q9BRB2	Missense_Mutation	SNP	ENST00000333486.3	37	c.2387T>G	CCDS2805.1	.	.	.	.	.	.	.	.	.	.	A	8.396	0.840954	0.16891	.	.	ENSG00000182179	ENST00000333486	T	0.42900	0.96	4.79	-2.31	0.06765	Molybdenum cofactor biosynthesis, MoeB (1);Ubiquitin-like 1 activating enzyme, catalytic cysteine domain (1);	1.186740	0.05816	N	0.614793	T	0.23572	0.0570	N	0.19112	0.55	0.22457	N	0.999083	B	0.02656	0.0	B	0.01281	0.0	T	0.18085	-1.0348	10	0.33141	T	0.24	-0.8934	3.2797	0.06911	0.3199:0.0:0.1902:0.4899	.	796	P41226	UBA7_HUMAN	G	796	ENSP00000333266:V796G	ENSP00000333266:V796G	V	-	2	0	UBA7	49820866	0.001000	0.12720	0.046000	0.18839	0.096000	0.18686	-0.377000	0.07456	-0.239000	0.09710	0.459000	0.35465	GTC		0.587	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350503.1	NM_003335		16	48	16	48	---	---	---	---
ZNF732	654254	broad.mit.edu	37	4	265718	265718	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:265718C>T	ENST00000419098.1	-	4	938	c.928G>A	c.(928-930)Gaa>Aaa	p.E310K		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(2)	3						TTGCCACATTCCTGACATTTG	0.388																																						ENST00000419098.1																			0				endometrium(1)|lung(2)	3						c.(928-930)Gaa>Aaa		zinc finger protein 732							68.0	64.0	65.0					4																	265718		692	1591	2283	SO:0001583	missense	654254				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:265718C>T	AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.928G>A	4.37:g.265718C>T	ENSP00000415774:p.Glu310Lys						p.E310K	NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN			4	938	-			310						Missense_Mutation	SNP	ENST00000419098.1	37	c.928G>A	CCDS46990.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.102659	0.37145	.	.	ENSG00000186777	ENST00000419098	T	0.07327	3.2	0.977	0.977	0.19733	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10637	0.0260	N	0.17838	0.53	0.19945	N	0.999947	P	0.48589	0.912	P	0.56088	0.791	T	0.26467	-1.0102	9	0.72032	D	0.01	.	7.3306	0.26580	0.0:1.0:0.0:0.0	.	310	B4DXR9	ZN732_HUMAN	K	310	ENSP00000415774:E310K	ENSP00000415774:E310K	E	-	1	0	ZNF732	255718	0.000000	0.05858	0.092000	0.20876	0.084000	0.17831	-0.220000	0.09215	0.399000	0.25367	0.400000	0.26472	GAA		0.388	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000357937.2	NM_001137608		3	15	3	15	---	---	---	---
FRAS1	80144	broad.mit.edu	37	4	79340185	79340185	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:79340185A>G	ENST00000325942.6	+	33	4948	c.4508A>G	c.(4507-4509)tAc>tGc	p.Y1503C	FRAS1_ENST00000264895.6_Missense_Mutation_p.Y1503C	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1503					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAGATTGTCTACAACATCACT	0.363																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(4507-4509)tAc>tGc		Fraser syndrome 1							180.0	173.0	175.0					4																	79340185		1881	4114	5995	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79340185A>G	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.4508A>G	4.37:g.79340185A>G	ENSP00000326330:p.Tyr1503Cys					FRAS1_ENST00000325942.6_Missense_Mutation_p.Y1503C	p.Y1503C	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			33	4948	+			1502					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.4508A>G	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	A	12.35	1.911267	0.33721	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.56444	0.46;0.46	5.22	5.22	0.72569	.	0.069181	0.64402	D	0.000012	T	0.72203	0.3431	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.975	T	0.76610	-0.2896	10	0.87932	D	0	.	11.1482	0.48442	0.8621:0.0:0.0:0.1379	.	1503;1503	E9PHH6;A2RRR8	.;.	C	1503	ENSP00000326330:Y1503C;ENSP00000264895:Y1503C	ENSP00000264895:Y1503C	Y	+	2	0	FRAS1	79559209	0.998000	0.40836	0.720000	0.30636	0.017000	0.09413	2.789000	0.47813	2.099000	0.63709	0.533000	0.62120	TAC		0.363	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			6	104	6	104	---	---	---	---
TACR3	6870	broad.mit.edu	37	4	104579429	104579429	+	Missense_Mutation	SNP	A	A	C	rs201587477		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:104579429A>C	ENST00000304883.2	-	2	820	c.680T>G	c.(679-681)aTg>aGg	p.M227R		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	227					aging (GO:0007568)|hyperosmotic salinity response (GO:0042538)|positive regulation of blood pressure (GO:0045777)|positive regulation of heart rate (GO:0010460)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of dopamine metabolic process (GO:0042053)|regulation of feeding behavior (GO:0060259)|response to cocaine (GO:0042220)|response to estradiol (GO:0032355)|response to morphine (GO:0043278)|tachykinin receptor signaling pathway (GO:0007217)	cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	tachykinin receptor activity (GO:0004995)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ACGGCCTGGCATGACTTTGGT	0.398																																						ENST00000304883.2																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						c.(679-681)aTg>aGg		tachykinin receptor 3							139.0	130.0	133.0					4																	104579429		2203	4300	6503	SO:0001583	missense	6870					integral to plasma membrane	tachykinin receptor activity	g.chr4:104579429A>C	M89473	CCDS3664.1	4q25	2012-08-08			ENSG00000169836	ENSG00000169836		"""GPCR / Class A : Tachykinin receptors"""	11528	protein-coding gene	gene with protein product	"""neurokinin beta receptor"""	162332				1374246	Standard	NM_001059		Approved	NK3R	uc003hxe.1	P29371	OTTHUMG00000131124	ENST00000304883.2:c.680T>G	4.37:g.104579429A>C	ENSP00000303325:p.Met227Arg						p.M227R	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)	2	820	-		Hepatocellular(203;0.217)	227					Q0P510	Missense_Mutation	SNP	ENST00000304883.2	37	c.680T>G	CCDS3664.1	.	.	.	.	.	.	.	.	.	.	A	10.52	1.372152	0.24857	.	.	ENSG00000169836	ENST00000304883	T	0.36157	1.27	6.07	6.07	0.98685	GPCR, rhodopsin-like superfamily (1);	0.185998	0.53938	D	0.000042	T	0.23289	0.0563	N	0.25144	0.715	0.43959	D	0.996635	P	0.46142	0.873	B	0.39465	0.3	T	0.04053	-1.0981	10	0.27082	T	0.32	.	10.1772	0.42946	0.9266:0.0:0.0734:0.0	.	227	P29371	NK3R_HUMAN	R	227	ENSP00000303325:M227R	ENSP00000303325:M227R	M	-	2	0	TACR3	104798878	0.987000	0.35691	0.999000	0.59377	0.278000	0.26855	3.527000	0.53517	2.326000	0.78906	0.533000	0.62120	ATG		0.398	TACR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253804.1	NM_001059		10	48	10	48	---	---	---	---
RAB33B	83452	broad.mit.edu	37	4	140375467	140375467	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:140375467G>C	ENST00000305626.5	+	1	507	c.118G>C	c.(118-120)Ggc>Cgc	p.G40R	RP11-83A24.2_ENST00000610159.1_RNA|RP11-83A24.2_ENST00000608661.1_RNA|RP11-83A24.2_ENST00000609359.1_RNA|RP11-83A24.2_ENST00000608663.1_RNA	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN	RAB33B, member RAS oncogene family	40					autophagy (GO:0006914)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of autophagic vacuole assembly (GO:2000785)|regulation of retrograde vesicle-mediated transport, Golgi to ER (GO:2000156)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_hematologic(180;0.162)					AATCGTGATCGGCGACTCCAA	0.622																																						ENST00000305626.5																			0				large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	4						c.(118-120)Ggc>Cgc		RAB33B, member RAS oncogene family							51.0	49.0	49.0					4																	140375467		2203	4300	6503	SO:0001583	missense	83452				protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	g.chr4:140375467G>C	AF350420	CCDS3747.1	4q28	2008-02-05			ENSG00000172007	ENSG00000172007		"""RAB, member RAS oncogene"""	16075	protein-coding gene	gene with protein product		605950					Standard	NM_031296		Approved	DKFZP434G099	uc003ihv.3	Q9H082	OTTHUMG00000133384	ENST00000305626.5:c.118G>C	4.37:g.140375467G>C	ENSP00000306496:p.Gly40Arg						p.G40R	NM_031296.1	NP_112586.1	Q9H082	RB33B_HUMAN			1	507	+	all_hematologic(180;0.162)		40					B2R987|Q4W5B0	Missense_Mutation	SNP	ENST00000305626.5	37	c.118G>C	CCDS3747.1	.	.	.	.	.	.	.	.	.	.	G	35	5.439628	0.96168	.	.	ENSG00000172007	ENST00000305626	D	0.98862	-5.19	5.17	4.31	0.51392	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.99521	0.9829	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97815	1.0253	10	0.87932	D	0	.	15.2042	0.73165	0.0:0.0:0.8577:0.1423	.	40	Q9H082	RB33B_HUMAN	R	40	ENSP00000306496:G40R	ENSP00000306496:G40R	G	+	1	0	RAB33B	140594917	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.569000	0.98170	1.269000	0.44280	0.462000	0.41574	GGC		0.622	RAB33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257235.2	NM_031296		16	21	16	21	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13871697	13871697	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr5:13871697C>T	ENST00000265104.4	-	23	3678	c.3574G>A	c.(3574-3576)Gtg>Atg	p.V1192M	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1192	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGGAACCCACACAGACATAT	0.368									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(3574-3576)Gtg>Atg		dynein, axonemal, heavy chain 5							119.0	127.0	124.0					5																	13871697		2203	4300	6503	SO:0001583	missense	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13871697C>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3574G>A	5.37:g.13871697C>T	ENSP00000265104:p.Val1192Met					CTB-51A17.1_ENST00000503244.1_RNA	p.V1192M	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			23	3678	-	Lung NSC(4;0.00476)		1192			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.3574G>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463113	0.84425	.	.	ENSG00000039139	ENST00000265104	T	0.25912	1.77	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	T	0.49626	0.1568	M	0.88377	2.95	0.80722	D	1	P	0.39404	0.672	P	0.45753	0.492	T	0.53774	-0.8391	10	0.59425	D	0.04	.	20.4777	0.99188	0.0:1.0:0.0:0.0	.	1192	Q8TE73	DYH5_HUMAN	M	1192	ENSP00000265104:V1192M	ENSP00000265104:V1192M	V	-	1	0	DNAH5	13924697	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	5.763000	0.68818	2.840000	0.97914	0.655000	0.94253	GTG		0.368	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		43	46	43	46	---	---	---	---
GFPT2	9945	broad.mit.edu	37	5	179740918	179740918	+	Silent	SNP	G	G	A			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr5:179740918G>A	ENST00000253778.8	-	14	1489	c.1320C>T	c.(1318-1320)cgC>cgT	p.R440R	GFPT2_ENST00000520165.1_5'Flank	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	440	SIS 1. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGAGAGCGCCGCGGTCCTTAC	0.726																																						ENST00000253778.8																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(1318-1320)cgC>cgT		glutamine-fructose-6-phosphate transaminase 2	L-Glutamine(DB00130)						18.0	24.0	22.0					5																	179740918		2157	4251	6408	SO:0001819	synonymous_variant	9945				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding	g.chr5:179740918G>A	AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.1320C>T	5.37:g.179740918G>A							p.R440R	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	1489	-	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	440			SIS 1.		Q53XM2|Q9BWS4	Silent	SNP	ENST00000253778.8	37	c.1320C>T	CCDS43411.1																																																																																				0.726	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373444.4	NM_005110		12	13	12	13	---	---	---	---
TRIM10	10107	broad.mit.edu	37	6	30128486	30128486	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr6:30128486G>T	ENST00000449742.2	-	1	225	c.150C>A	c.(148-150)gaC>gaA	p.D50E	TRIM15_ENST00000376694.4_5'Flank|TRIM15_ENST00000376688.1_5'Flank|TRIM10_ENST00000376704.3_Missense_Mutation_p.D50E	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	50					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			ovary(1)	1						ACTCCTCCAGGTCTGGGCCTG	0.612																																						ENST00000449742.2																			0				ovary(1)	1						c.(148-150)gaC>gaA		tripartite motif containing 10							135.0	142.0	140.0					6																	30128486		2203	4300	6503	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30128486G>T	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.150C>A	6.37:g.30128486G>T	ENSP00000397073:p.Asp50Glu					TRIM10_ENST00000376704.3_Missense_Mutation_p.D50E	p.D50E	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN			1	225	-			50					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.150C>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	G	2.821	-0.244880	0.05906	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.63255	-0.03;0.16	5.23	-3.59	0.04583	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.500915	0.18211	N	0.148185	T	0.10981	0.0268	N	0.17312	0.475	0.09310	N	1	B;B	0.12013	0.003;0.005	B;B	0.13407	0.009;0.009	T	0.28554	-1.0040	10	0.06891	T	0.86	.	2.0066	0.03478	0.1457:0.2821:0.3242:0.248	.	50;50	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	E	50	ENSP00000397073:D50E;ENSP00000365894:D50E	ENSP00000365894:D50E	D	-	3	2	TRIM10	30236465	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.717000	0.01876	-0.712000	0.04988	0.549000	0.68633	GAC		0.612	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1			33	127	33	127	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21920441	21920441	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr7:21920441A>G	ENST00000409508.3	+	75	12348	c.12317A>G	c.(12316-12318)tAt>tGt	p.Y4106C	DNAH11_ENST00000328843.6_Missense_Mutation_p.Y4113C	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	4113	AAA 6. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGCCGAAGCTATCCTTTTAAT	0.483									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(12337-12339)tAt>tGt		dynein, axonemal, heavy chain 11							87.0	86.0	86.0					7																	21920441		1864	4099	5963	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21920441A>G	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.12317A>G	7.37:g.21920441A>G	ENSP00000475939:p.Tyr4106Cys					DNAH11_ENST00000409508.3_Missense_Mutation_p.Y4106C	p.Y4113C			Q96DT5	DYH11_HUMAN			76	12369	+			4113			AAA 6 (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.12338A>G		.	.	.	.	.	.	.	.	.	.	A	17.50	3.405937	0.62288	.	.	ENSG00000105877	ENST00000328843	T	0.25579	1.79	5.66	5.66	0.87406	Dynein heavy chain (1);	0.000000	0.85682	D	0.000000	T	0.53626	0.1808	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.58713	-0.7588	9	0.87932	D	0	.	15.9009	0.79377	1.0:0.0:0.0:0.0	.	4113	Q96DT5	DYH11_HUMAN	C	4113	ENSP00000330671:Y4113C	ENSP00000330671:Y4113C	Y	+	2	0	DNAH11	21886966	1.000000	0.71417	0.944000	0.38274	0.527000	0.34593	5.242000	0.65389	2.173000	0.68751	0.533000	0.62120	TAT		0.483	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		12	80	12	80	---	---	---	---
TNFSF15	9966	broad.mit.edu	37	9	117552950	117552950	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr9:117552950C>T	ENST00000374045.4	-	4	651	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	TNFSF15_ENST00000374044.1_Missense_Mutation_p.V103I|AL390240.1_ENST00000408807.1_RNA	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	180					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TTGGTGATGACCACAGTGATG	0.522																																						ENST00000374045.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						c.(538-540)Gtc>Atc		tumor necrosis factor (ligand) superfamily, member 15							231.0	181.0	198.0					9																	117552950		2203	4300	6503	SO:0001583	missense	9966				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr9:117552950C>T	AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.538G>A	9.37:g.117552950C>T	ENSP00000363157:p.Val180Ile					TNFSF15_ENST00000374044.1_Missense_Mutation_p.V103I	p.V180I	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN			4	651	-			180					Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Missense_Mutation	SNP	ENST00000374045.4	37	c.538G>A	CCDS6809.1	.	.	.	.	.	.	.	.	.	.	C	11.44	1.638835	0.29157	.	.	ENSG00000181634	ENST00000374045;ENST00000374044	T;T	0.63580	-0.05;-0.05	6.03	1.65	0.23941	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.706519	0.14104	N	0.341219	T	0.44222	0.1283	N	0.25825	0.765	0.24919	N	0.992	B;B	0.12013	0.005;0.001	B;B	0.20184	0.028;0.008	T	0.27905	-1.0060	10	0.32370	T	0.25	-25.4202	5.9951	0.19489	0.0:0.4108:0.1417:0.4475	.	180;121	O95150;O95150-2	TNF15_HUMAN;.	I	180;103	ENSP00000363157:V180I;ENSP00000363156:V103I	ENSP00000363156:V103I	V	-	1	0	TNFSF15	116592771	0.863000	0.29885	0.766000	0.31476	0.994000	0.84299	0.502000	0.22594	0.362000	0.24319	-0.211000	0.12701	GTC		0.522	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055424.2	NM_005118		11	48	11	48	---	---	---	---
HERC4	26091	broad.mit.edu	37	10	69748522	69748522	+	Silent	SNP	T	T	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr10:69748522T>G	ENST00000395198.3	-	15	1951	c.1704A>C	c.(1702-1704)gtA>gtC	p.V568V	HERC4_ENST00000277817.6_Silent_p.V458V|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000412272.2_Silent_p.V568V|HERC4_ENST00000373700.4_Silent_p.V568V	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	568					cell differentiation (GO:0030154)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TCAAAAGATGTACCACAACTT	0.328																																						ENST00000395198.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						c.(1702-1704)gtA>gtC		HECT and RLD domain containing E3 ubiquitin protein ligase 4							115.0	125.0	122.0					10																	69748522		2203	4293	6496	SO:0001819	synonymous_variant	26091				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity	g.chr10:69748522T>G	AY221963	CCDS7274.1, CCDS41533.1, CCDS60541.1, CCDS60542.1	10q21.3	2013-09-20	2012-02-23		ENSG00000148634	ENSG00000148634			24521	protein-coding gene	gene with protein product		609248	"""hect domain and RLD 4"""			10997877	Standard	NM_022079		Approved	DKFZP564G092, KIAA1593	uc001jng.4	Q5GLZ8	OTTHUMG00000018343	ENST00000395198.3:c.1704A>C	10.37:g.69748522T>G						HERC4_ENST00000412272.2_Silent_p.V568V|HERC4_ENST00000277817.6_Silent_p.V458V|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Silent_p.V568V	p.V568V	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN			15	1951	-			568					Q5GC98|Q5GC99|Q5GCA0|Q8IXP9|Q9HCH9	Silent	SNP	ENST00000395198.3	37	c.1704A>C	CCDS41533.1																																																																																				0.328	HERC4-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359262.1	NM_015601		5	143	5	143	---	---	---	---
NFRKB	4798	broad.mit.edu	37	11	129752042	129752042	+	Missense_Mutation	SNP	G	G	A	rs555836314		TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr11:129752042G>A	ENST00000446488.3	-	10	1233	c.1130C>T	c.(1129-1131)tCc>tTc	p.S377F	NFRKB_ENST00000524746.1_Missense_Mutation_p.S377F|NFRKB_ENST00000304521.5_Missense_Mutation_p.S377F|NFRKB_ENST00000524794.1_Missense_Mutation_p.S402F	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	377	Winged-helix like domain.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protease binding (GO:0002020)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GAAGAAGCTGGAAGATATTTC	0.418											OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		20135	0.0		0.0	False		,,,				2504	0.001					ENST00000446488.3																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32						c.(1129-1131)tCc>tTc		nuclear factor related to kappaB binding protein																																				SO:0001583	missense	4798				DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	g.chr11:129752042G>A		CCDS8483.1, CCDS44770.1	11q24-q25	2011-07-06			ENSG00000170322	ENSG00000170322		"""INO80 complex subunits"""	7802	protein-coding gene	gene with protein product	"""nuclear factor related to kappa B binding protein"", ""DNA-binding protein R kappa B"", ""INO80 complex subunit G"""	164013				1427843	Standard	NM_006165		Approved	DKFZp547B2013, INO80G	uc001qfg.3	Q6P4R8	OTTHUMG00000165761	ENST00000446488.3:c.1130C>T	11.37:g.129752042G>A	ENSP00000400476:p.Ser377Phe		OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1574	NFRKB_ENST00000524794.1_Missense_Mutation_p.S402F|NFRKB_ENST00000304521.5_Missense_Mutation_p.S377F|NFRKB_ENST00000524746.1_Missense_Mutation_p.S377F	p.S377F	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)	10	1233	-	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)	377					Q12869|Q15312|Q9H048	Missense_Mutation	SNP	ENST00000446488.3	37	c.1130C>T	CCDS44770.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104773	0.56291	.	.	ENSG00000170322	ENST00000304521;ENST00000446488;ENST00000524794;ENST00000524746;ENST00000531755	.	.	.	5.85	4.92	0.64577	.	0.349316	0.34178	N	0.004186	T	0.46171	0.1379	N	0.19112	0.55	0.38288	D	0.942625	P;P;D;P	0.58268	0.926;0.926;0.982;0.956	B;B;P;B	0.46796	0.247;0.247;0.527;0.43	T	0.56153	-0.8026	9	0.59425	D	0.04	-12.3889	16.859	0.86013	0.0:0.1285:0.8715:0.0	.	389;377;377;402	B4DSL1;Q6P4R8;Q6P4R8-3;Q6P4R8-2	.;NFRKB_HUMAN;.;.	F	377;377;402;377;389	.	ENSP00000303800:S377F	S	-	2	0	NFRKB	129257252	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.032000	0.57274	1.433000	0.47394	0.655000	0.94253	TCC		0.418	NFRKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386063.2	NM_006165		5	35	5	35	---	---	---	---
B4GALNT1	2583	broad.mit.edu	37	12	58020538	58020538	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr12:58020538T>C	ENST00000341156.4	-	11	2175	c.1591A>G	c.(1591-1593)Acc>Gcc	p.T531A	B4GALNT1_ENST00000418555.2_Missense_Mutation_p.T476A	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	531					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CACTGGGAGGTCATGCACTGC	0.592																																						ENST00000341156.4																			0				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(1591-1593)Acc>Gcc		beta-1,4-N-acetyl-galactosaminyl transferase 1							144.0	126.0	132.0					12																	58020538		2203	4300	6503	SO:0001583	missense	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58020538T>C	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.1591A>G	12.37:g.58020538T>C	ENSP00000341562:p.Thr531Ala					B4GALNT1_ENST00000418555.2_Missense_Mutation_p.T476A	p.T531A	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		11	2175	-	Melanoma(17;0.122)		531					B4DE26|Q8N636	Missense_Mutation	SNP	ENST00000341156.4	37	c.1591A>G	CCDS8950.1	.	.	.	.	.	.	.	.	.	.	.	16.15	3.042862	0.55003	.	.	ENSG00000135454	ENST00000341156;ENST00000418555	T;T	0.20598	2.06;2.17	4.6	4.6	0.57074	.	0.057904	0.64402	D	0.000002	T	0.17746	0.0426	L	0.45228	1.405	0.80722	D	1	B;P	0.48294	0.363;0.908	B;B	0.38616	0.138;0.277	T	0.02966	-1.1088	10	0.33940	T	0.23	-17.653	13.42	0.60992	0.0:0.0:0.0:1.0	.	476;531	B4DE26;Q00973	.;B4GN1_HUMAN	A	531;476	ENSP00000341562:T531A;ENSP00000401601:T476A	ENSP00000341562:T531A	T	-	1	0	B4GALNT1	56306805	1.000000	0.71417	0.986000	0.45419	0.574000	0.36063	2.934000	0.48956	2.083000	0.62718	0.383000	0.25322	ACC		0.592	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		22	153	22	153	---	---	---	---
RAB5C	5878	broad.mit.edu	37	17	40280287	40280287	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr17:40280287C>G	ENST00000346213.4	-	4	645	c.433G>C	c.(433-435)Gaa>Caa	p.E145Q	RAB5C_ENST00000393860.3_Missense_Mutation_p.E145Q|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.E145Q|RAB5C_ENST00000547517.1_Missense_Mutation_p.E178Q	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	145					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		ACCTGGAATTCCACGGCTCTC	0.622																																						ENST00000393860.3																			0				large_intestine(1)|lung(4)|prostate(1)|skin(1)	7						c.(433-435)Gaa>Caa		RAB5C, member RAS oncogene family							118.0	100.0	106.0					17																	40280287		2203	4300	6503	SO:0001583	missense	5878				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:40280287C>G	U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"""RAB, member RAS oncogene"""	9785	protein-coding gene	gene with protein product	"""RAB, member of RAS oncogene family-like"", ""RAB5C, member of RAS oncogene family"""	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.433G>C	17.37:g.40280287C>G	ENSP00000345689:p.Glu145Gln					RAB5C_ENST00000547517.1_Missense_Mutation_p.E178Q|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.E145Q|RAB5C_ENST00000346213.4_Missense_Mutation_p.E145Q	p.E145Q	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	5	749	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	145					F8W1H5|Q6FH55|Q9P0Y5	Missense_Mutation	SNP	ENST00000346213.4	37	c.433G>C	CCDS11419.1	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563942	0.65651	.	.	ENSG00000108774	ENST00000346213;ENST00000393860;ENST00000547517	T;T;T	0.77229	-1.08;-1.08;-1.08	5.3	5.3	0.74995	Small GTP-binding protein domain (1);	0.046101	0.85682	D	0.000000	T	0.61362	0.2341	N	0.04373	-0.215	0.80722	D	1	B;B	0.27166	0.009;0.17	B;B	0.28849	0.016;0.095	T	0.58250	-0.7669	10	0.24483	T	0.36	-23.2974	19.1532	0.93499	0.0:1.0:0.0:0.0	.	178;145	F8W1H5;P51148	.;RAB5C_HUMAN	Q	145;145;178	ENSP00000345689:E145Q;ENSP00000377440:E145Q;ENSP00000447053:E178Q	ENSP00000345689:E145Q	E	-	1	0	RAB5C	37533813	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.622000	0.83099	2.769000	0.95229	0.655000	0.94253	GAA		0.622	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		10	42	10	42	---	---	---	---
CDH19	28513	broad.mit.edu	37	18	64235830	64235830	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr18:64235830G>A	ENST00000540086.1	-	3	559	c.313C>T	c.(313-315)Ctt>Ttt	p.L105F	CDH19_ENST00000262150.2_Missense_Mutation_p.L105F	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	213	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCTCTATCAAGCTTCTGTATG	0.433																																						ENST00000262150.2																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61						c.(313-315)Ctt>Ttt		cadherin 19, type 2							134.0	129.0	130.0					18																	64235830		2203	4299	6502	SO:0001583	missense	28513				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:64235830G>A	AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.313C>T	18.37:g.64235830G>A	ENSP00000439593:p.Leu105Phe					CDH19_ENST00000540086.1_Missense_Mutation_p.L105F	p.L105F	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN			3	605	-		Esophageal squamous(42;0.0132)	105			Cadherin 1.		O15098	Missense_Mutation	SNP	ENST00000540086.1	37	c.313C>T	CCDS59325.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.611025	0.46631	.	.	ENSG00000071991	ENST00000262150;ENST00000540086;ENST00000454642	T;T	0.74737	-0.87;-0.87	5.87	5.87	0.94306	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85936	0.5813	M	0.78916	2.43	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.86957	0.2089	10	0.87932	D	0	.	14.3906	0.66975	0.0724:0.0:0.9276:0.0	.	105;105	F5H1K0;Q9H159	.;CAD19_HUMAN	F	105;105;50	ENSP00000262150:L105F;ENSP00000439593:L105F	ENSP00000262150:L105F	L	-	1	0	CDH19	62386810	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.436000	0.59948	2.785000	0.95823	0.591000	0.81541	CTT		0.433	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000442285.1	NM_021153		4	78	4	78	---	---	---	---
ZNF845	91664	broad.mit.edu	37	19	53854634	53854634	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr19:53854634A>T	ENST00000595091.1	+	5	925	c.706A>T	c.(706-708)Atc>Ttc	p.I236F	ZNF845_ENST00000458035.1_Missense_Mutation_p.I236F			Q96IR2	ZN845_HUMAN	zinc finger protein 845	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACATCAGATAATCCATTTAGG	0.373																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(706-708)Atc>Ttc		zinc finger protein 845							92.0	77.0	82.0					19																	53854634		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854634A>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.706A>T	19.37:g.53854634A>T	ENSP00000470005:p.Ile236Phe					ZNF845_ENST00000595091.1_Missense_Mutation_p.I236F	p.I236F	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	823	+			236						Missense_Mutation	SNP	ENST00000595091.1	37	c.706A>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	A	12.18	1.859679	0.32884	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.18338	2.22	1.91	-0.771	0.11002	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29061	0.0722	M	0.66939	2.045	0.09310	N	1	D	0.59357	0.985	P	0.61477	0.889	T	0.12218	-1.0556	9	0.52906	T	0.07	.	4.2666	0.10766	0.6693:0.2006:0.1301:0.0	.	236	Q96IR2	ZN845_HUMAN	F	236	ENSP00000388311:I236F	ENSP00000412086:I236F	I	+	1	0	ZNF845	58546446	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	0.132000	0.15891	-0.502000	0.06596	-1.231000	0.01572	ATC		0.373	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		7	57	7	57	---	---	---	---
FAM83F	113828	broad.mit.edu	37	22	40417338	40417338	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr22:40417338T>C	ENST00000333407.6	+	4	918	c.824T>C	c.(823-825)cTc>cCc	p.L275P	FAM83F_ENST00000473717.1_Missense_Mutation_p.L107P	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F	275										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CTCCTCCTGCTCCTGACAGGA	0.602																																						ENST00000333407.6																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						c.(823-825)cTc>cCc		family with sequence similarity 83, member F							121.0	131.0	128.0					22																	40417338		2203	4300	6503	SO:0001583	missense	113828							g.chr22:40417338T>C		CCDS14000.2	22q13.1	2006-03-22			ENSG00000133477	ENSG00000133477			25148	protein-coding gene	gene with protein product						12477932	Standard	NM_138435		Approved		uc003ayk.1	Q8NEG4	OTTHUMG00000150688	ENST00000333407.6:c.824T>C	22.37:g.40417338T>C	ENSP00000330432:p.Leu275Pro					FAM83F_ENST00000473717.1_Missense_Mutation_p.L107P	p.L275P	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN			4	918	+								Q96FD6	Missense_Mutation	SNP	ENST00000333407.6	37	c.824T>C	CCDS14000.2	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894273	0.72639	.	.	ENSG00000133477	ENST00000333407	T	0.15718	2.4	4.94	4.94	0.65067	.	0.066666	0.64402	D	0.000014	T	0.29126	0.0724	L	0.60455	1.87	0.80722	D	1	D	0.53885	0.963	P	0.54629	0.757	T	0.01894	-1.1252	10	0.66056	D	0.02	-36.0005	10.6569	0.45680	0.1432:0.0:0.0:0.8568	.	275	Q8NEG4	FA83F_HUMAN	P	275	ENSP00000330432:L275P	ENSP00000330432:L275P	L	+	2	0	FAM83F	38747284	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	6.031000	0.70911	2.071000	0.62044	0.459000	0.35465	CTC		0.602	FAM83F-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319624.3	NM_138435		14	148	14	148	---	---	---	---
KDM6A	7403	broad.mit.edu	37	X	44945222	44945222	+	Silent	SNP	A	A	G			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chrX:44945222A>G	ENST00000377967.4	+	24	3587	c.3546A>G	c.(3544-3546)gaA>gaG	p.E1182E	KDM6A_ENST00000382899.4_Silent_p.E1189E|KDM6A_ENST00000536777.1_Silent_p.E1137E|KDM6A_ENST00000543216.1_Silent_p.E1103E	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1182	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.?(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACTTCTGTGAAAAGTAGGTTT	0.358			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		7	Whole gene deletion(6)|Unknown(1)	p.0?(6)|p.?(1)	oesophagus(2)|breast(2)|pancreas(2)|central_nervous_system(1)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(3544-3546)gaA>gaG		lysine (K)-specific demethylase 6A							133.0	114.0	120.0					X																	44945222		2203	4300	6503	SO:0001819	synonymous_variant	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44945222A>G	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3546A>G	X.37:g.44945222A>G						KDM6A_ENST00000382899.4_Silent_p.E1189E|KDM6A_ENST00000543216.1_Silent_p.E1103E|KDM6A_ENST00000536777.1_Silent_p.E1137E	p.E1182E	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			24	3587	+			1182			JmjC.		Q52LL9|Q5JVQ7	Silent	SNP	ENST00000377967.4	37	c.3546A>G	CCDS14265.1	.	.	.	.	.	.	.	.	.	.	A	13.25	2.181925	0.38511	.	.	ENSG00000147050	ENST00000414389;ENST00000433797	.	.	.	5.67	4.31	0.51392	.	.	.	.	.	T	0.61602	0.2360	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60260	-0.7298	4	.	.	.	-16.4457	11.1997	0.48734	0.9145:0.0:0.0855:0.0	.	.	.	.	E	780;825	.	.	K	+	1	0	KDM6A	44830166	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.959000	0.70339	1.895000	0.54865	0.486000	0.48141	AAA		0.358	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		9	35	9	35	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179425080	179425081	+	Frame_Shift_Ins	INS	-	-	T			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr2:179425080_179425081insT	ENST00000591111.1	-	276	81079_81080	c.80855_80856insA	c.(80854-80856)aatfs	p.N26952fs	TTN_ENST00000589042.1_Frame_Shift_Ins_p.N28593fs|TTN_ENST00000342992.6_Frame_Shift_Ins_p.N26025fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.N19720fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Ins_p.N19653fs|TTN_ENST00000460472.2_Frame_Shift_Ins_p.N19528fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26952	Fibronectin type-III 96. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCTTAGGCTATTTTTCTCTCG	0.386																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(85777-85779)aatfs		titin																																				SO:0001589	frameshift_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179425080_179425081insT	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80856dupA	2.37:g.179425085_179425085dupT	ENSP00000465570:p.Asn26952fs					TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Ins_p.N26025fs|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Ins_p.N19720fs|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Ins_p.N19528fs|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Ins_p.N26952fs|TTN_ENST00000359218.5_Frame_Shift_Ins_p.N19653fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA	p.N28593fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	86002_86003	-			26952			Fibronectin type-III 108.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Frame_Shift_Ins	INS	ENST00000591111.1	37	c.85778_85779insA																																																																																					0.386	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		24	24	24	24	---	---	---	---
UTP3	57050	broad.mit.edu	37	4	71555199	71555210	+	In_Frame_Del	DEL	TACAACCTCTAC	TACAACCTCTAC	-			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr4:71555199_71555210delTACAACCTCTAC	ENST00000254803.2	+	1	1004_1015	c.805_816delTACAACCTCTAC	c.(805-816)tacaacctctacdel	p.YNLY269del		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	269					brain development (GO:0007420)|chromatin modification (GO:0016568)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			GAGGACCAAGTACAACCTCTACTTGAATTATT	0.443																																						ENST00000254803.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18						c.(805-816)tacaacctctacdel		UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)																																				SO:0001651	inframe_deletion	57050				brain development|chromatin modification|gene silencing	nucleolus		g.chr4:71555199_71555210delTACAACCTCTAC	AL136590	CCDS3546.1	4q13.3	2008-02-05			ENSG00000132467	ENSG00000132467			24477	protein-coding gene	gene with protein product	"""disrupter of silencing 10"""	611614				12477932	Standard	NM_020368		Approved	FLJ23256, DKFZp761F222, SAS10, CRLZ1	uc003hfo.3	Q9NQZ2	OTTHUMG00000129911	ENST00000254803.2:c.805_816delTACAACCTCTAC	4.37:g.71555199_71555210delTACAACCTCTAC	ENSP00000254803:p.Tyr269_Tyr272del						p.YNLY269del	NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	Lung(101;0.235)		1	1004_1015	+			269					Q6FI82	In_Frame_Del	DEL	ENST00000254803.2	37	c.805_816delTACAACCTCTAC	CCDS3546.1																																																																																				0.443	UTP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252163.2	NM_020368		25	156	25	156	---	---	---	---
SLC22A3	6581	broad.mit.edu	37	6	160857879	160857879	+	Frame_Shift_Del	DEL	G	G	-			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr6:160857879delG	ENST00000275300.2	+	6	1195	c.1043delG	c.(1042-1044)aggfs	p.R348fs	SLC22A3_ENST00000392145.1_Frame_Shift_Del_p.R348fs	NM_021977.3	NP_068812.1	O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	348					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|histamine uptake (GO:0051615)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|regulation of appetite (GO:0032098)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine transmembrane transporter activity (GO:0005329)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|toxin transporter activity (GO:0019534)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	Adefovir Dipivoxil(DB00718)|Amphetamine(DB00182)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Colchicine(DB01394)|Desipramine(DB01151)|Dopamine(DB00988)|Estradiol(DB00783)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imipramine(DB00458)|Irinotecan(DB00762)|Lamivudine(DB00709)|Melphalan(DB01042)|Metformin(DB00331)|Methamphetamine(DB01577)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Phenoxybenzamine(DB00925)|Prazosin(DB00457)|Procainamide(DB01035)|Progesterone(DB00396)|Testosterone(DB00624)|Vincristine(DB00541)	CCCCAAATGAGGAAATGCACA	0.353																																						ENST00000392145.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(1042-1044)aggfs		solute carrier family 22 (organic cation transporter), member 3							120.0	109.0	113.0					6																	160857879		2203	4300	6503	SO:0001589	frameshift_variant	6581					integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity	g.chr6:160857879delG	AF078749	CCDS5277.1	6q25.3	2013-07-18	2013-07-18		ENSG00000146477	ENSG00000146477		"""Solute carriers"""	10967	protein-coding gene	gene with protein product		604842	"""solute carrier family 22 (extraneuronal monoamine transporter), member 3"""			9632645, 9933568	Standard	NM_021977		Approved	OCT3, EMT	uc003qti.4	O75751	OTTHUMG00000015953	ENST00000275300.2:c.1043delG	6.37:g.160857879delG	ENSP00000275300:p.Arg348fs					SLC22A3_ENST00000275300.2_Frame_Shift_Del_p.R348fs	p.R348fs			O75751	S22A3_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)	6	1070	+		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)	348					Q5SYN6|Q9UP02	Frame_Shift_Del	DEL	ENST00000275300.2	37	c.1043delG	CCDS5277.1																																																																																				0.353	SLC22A3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000042953.1	NM_021977		13	63	13	63	---	---	---	---
LRFN4	78999	broad.mit.edu	37	11	66625250	66625251	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-YL-A8SQ-01B-11D-A377-08	TCGA-YL-A8SQ-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbf89ede-4235-406f-a233-efba91664605	41fda2e7-df7b-464a-b1d4-9aac99195bd9	g.chr11:66625250_66625251delGT	ENST00000309602.4	+	1	278_279	c.35_36delGT	c.(34-36)agtfs	p.S12fs	LRFN4_ENST00000393952.3_Frame_Shift_Del_p.S12fs|PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000531590.1_3'UTR	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	12						integral component of membrane (GO:0016021)				breast(1)|lung(1)|prostate(1)	3						CTGCTGGCCAGTGGAGCGGCCG	0.713																																						ENST00000309602.4																			0				breast(1)|lung(1)|prostate(1)	3						c.(34-36)agtfs		leucine rich repeat and fibronectin type III domain containing 4																																				SO:0001589	frameshift_variant	78999					integral to membrane		g.chr11:66625250_66625251delGT	BC007718	CCDS8153.1	11q13.1	2013-02-11				ENSG00000173621		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28456	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 6"""	612810				16495444, 16828986	Standard	NM_024036		Approved	MGC3103, SALM3., FIGLER6	uc001ojr.3	Q6PJG9		ENST00000309602.4:c.35_36delGT	11.37:g.66625250_66625251delGT	ENSP00000312535:p.Ser12fs					LRFN4_ENST00000393952.3_Frame_Shift_Del_p.S12fs|PC_ENST00000393958.2_Intron|PC_ENST00000393960.1_Intron|LRFN4_ENST00000531590.1_3'UTR|PC_ENST00000393955.2_Intron	p.S12fs	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN			1	278_279	+			12					Q4VBZ3|Q59GV4|Q8N644|Q9BWJ0	Frame_Shift_Del	DEL	ENST00000309602.4	37	c.35_36delGT	CCDS8153.1																																																																																				0.713	LRFN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393127.1	NM_024036		12	20	12	20	---	---	---	---
