#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TTLL7	79739	broad.mit.edu	37	1	84376919	84376919	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr1:84376919T>C	ENST00000260505.8	-	15	2092	c.1715A>G	c.(1714-1716)aAt>aGt	p.N572S	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	572					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|protein polyglutamylation (GO:0018095)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TCTTTTCTTATTTTGGTACTC	0.338																																						ENST00000260505.8																			0				kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						c.(1714-1716)aAt>aGt		tubulin tyrosine ligase-like family, member 7							217.0	216.0	216.0					1																	84376919		2203	4300	6503	SO:0001583	missense	79739				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity	g.chr1:84376919T>C	AY170843	CCDS690.2	1p31.1	2013-02-14			ENSG00000137941	ENSG00000137941		"""Tubulin tyrosine ligase-like family"""	26242	protein-coding gene	gene with protein product						15890843	Standard	XM_005271208		Approved	FLJ23033	uc001djc.3	Q6ZT98	OTTHUMG00000009932	ENST00000260505.8:c.1715A>G	1.37:g.84376919T>C	ENSP00000260505:p.Asn572Ser					TTLL7_ENST00000477524.1_5'UTR	p.N572S	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)	15	2092	-			572					Q5TAX8|Q5TAX9|Q6P990|Q86YS1|Q9H5U4	Missense_Mutation	SNP	ENST00000260505.8	37	c.1715A>G	CCDS690.2	.	.	.	.	.	.	.	.	.	.	T	2.713	-0.268382	0.05716	.	.	ENSG00000137941	ENST00000260505;ENST00000370704;ENST00000370703	T	0.03468	3.92	5.16	-2.11	0.07187	.	1.112010	0.06623	N	0.757751	T	0.00496	0.0016	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45948	-0.9226	10	0.06757	T	0.87	.	4.1003	0.10010	0.2396:0.2331:0.0:0.5273	.	572	Q6ZT98	TTLL7_HUMAN	S	572;349;572	ENSP00000260505:N572S	ENSP00000260505:N572S	N	-	2	0	TTLL7	84149507	0.002000	0.14202	0.001000	0.08648	0.009000	0.06853	-0.314000	0.08092	-0.271000	0.09272	-0.415000	0.06103	AAT		0.338	TTLL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027498.1	NM_024686		9	51	0	0	0	0.058154	0	9	51				
KCNS2	3788	broad.mit.edu	37	8	99441073	99441073	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr8:99441073A>G	ENST00000287042.4	+	2	1216	c.866A>G	c.(865-867)aAc>aGc	p.N289S	KCNS2_ENST00000521839.1_Missense_Mutation_p.N289S	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	289					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			ACTTTAGCCAACTTGGGCAGG	0.562																																					Pancreas(138;844 2489 9202 24627)	ENST00000287042.4																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31						c.(865-867)aAc>aGc		potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2							139.0	131.0	134.0					8																	99441073		2203	4300	6503	SO:0001583	missense	3788					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:99441073A>G	AB032970	CCDS6279.1	8q22	2011-07-05			ENSG00000156486	ENSG00000156486		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6301	protein-coding gene	gene with protein product		602906				9305895, 16382104	Standard	NM_020697		Approved	Kv9.2	uc003yin.3	Q9ULS6	OTTHUMG00000044337	ENST00000287042.4:c.866A>G	8.37:g.99441073A>G	ENSP00000287042:p.Asn289Ser					KCNS2_ENST00000521839.1_Missense_Mutation_p.N289S	p.N289S	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.0448)		2	1216	+	Breast(36;2.4e-06)		289					A8KAN1	Missense_Mutation	SNP	ENST00000287042.4	37	c.866A>G	CCDS6279.1	.	.	.	.	.	.	.	.	.	.	A	19.74	3.882999	0.72410	.	.	ENSG00000156486	ENST00000287042;ENST00000521839	D;D	0.97455	-4.39;-4.39	5.83	5.83	0.93111	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97614	0.9218	L	0.47716	1.5	0.50039	D	0.999841	D	0.69078	0.997	D	0.79108	0.992	D	0.98335	1.0535	10	0.56958	D	0.05	.	16.2009	0.82078	1.0:0.0:0.0:0.0	.	289	Q9ULS6	KCNS2_HUMAN	S	289	ENSP00000287042:N289S;ENSP00000430712:N289S	ENSP00000287042:N289S	N	+	2	0	KCNS2	99510249	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.235000	0.73313	0.533000	0.62120	AAC		0.562	KCNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103134.1	NM_020697		5	69	0	0	0	0.014758	0	5	69				
LAMB2	3913	broad.mit.edu	37	3	49169025	49169025	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr3:49169025C>A	ENST00000418109.1	-	6	755	c.591G>T	c.(589-591)tgG>tgT	p.W197C	LAMB2_ENST00000305544.4_Missense_Mutation_p.W197C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	197	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				astrocyte development (GO:0014002)|axon extension involved in regeneration (GO:0048677)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|metanephric glomerular basement membrane development (GO:0072274)|metanephric glomerular visceral epithelial cell development (GO:0072249)|neuromuscular junction development (GO:0007528)|retina development in camera-type eye (GO:0060041)|Schwann cell development (GO:0014044)|visual perception (GO:0007601)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-11 complex (GO:0043260)|laminin-3 complex (GO:0005608)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CTACATCATCCCAGTGCCGTG	0.592																																						ENST00000418109.1																			0				NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(589-591)tgG>tgT		laminin, beta 2 (laminin S)							130.0	134.0	133.0					3																	49169025		2203	4300	6503	SO:0001583	missense	3913				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity	g.chr3:49169025C>A		CCDS2789.1	3p21.3-p21.2	2013-03-01			ENSG00000172037	ENSG00000172037		"""Laminins"""	6487	protein-coding gene	gene with protein product	"""laminin S"""	150325		LAMS		2922051, 10393422	Standard	NM_002292		Approved		uc003cwe.3	P55268	OTTHUMG00000156807	ENST00000418109.1:c.591G>T	3.37:g.49169025C>A	ENSP00000388325:p.Trp197Cys					LAMB2_ENST00000305544.4_Missense_Mutation_p.W197C	p.W197C	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	6	755	-			197			Laminin N-terminal.		Q16321	Missense_Mutation	SNP	ENST00000418109.1	37	c.591G>T	CCDS2789.1	.	.	.	.	.	.	.	.	.	.	C	15.14	2.745061	0.49151	.	.	ENSG00000172037	ENST00000418109;ENST00000305544;ENST00000494831	T;T;T	0.75154	-0.91;-0.91;-0.91	4.85	4.85	0.62838	Laminin, N-terminal (3);	0.307238	0.29987	N	0.010688	T	0.73450	0.3588	L	0.34521	1.04	0.53005	D	0.999964	D	0.54601	0.967	P	0.53954	0.738	T	0.72620	-0.4238	10	0.38643	T	0.18	.	13.875	0.63647	0.1529:0.8471:0.0:0.0	.	197	P55268	LAMB2_HUMAN	C	197;197;48	ENSP00000388325:W197C;ENSP00000307156:W197C;ENSP00000444751:W48C	ENSP00000307156:W197C	W	-	3	0	LAMB2	49144029	0.999000	0.42202	1.000000	0.80357	0.990000	0.78478	0.632000	0.24583	2.530000	0.85305	0.655000	0.94253	TGG		0.592	LAMB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345939.1	NM_002292		5	149	1	0	0.00116845	0.021553	0.00229794	5	149				
CDH10	1008	broad.mit.edu	37	5	24537754	24537754	+	Silent	SNP	T	T	A			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr5:24537754T>A	ENST00000264463.4	-	3	768	c.261A>T	c.(259-261)ggA>ggT	p.G87G		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	87	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATTTGAGTGATCCATCTCCTT	0.373										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(259-261)ggA>ggT		cadherin 10, type 2 (T2-cadherin)							66.0	65.0	66.0					5																	24537754		2203	4300	6503	SO:0001819	synonymous_variant	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24537754T>A	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.261A>T	5.37:g.24537754T>A		HNSCC(23;0.051)					p.G87G	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	3	768	-			87			Cadherin 1.		Q9ULB3	Silent	SNP	ENST00000264463.4	37	c.261A>T	CCDS3892.1																																																																																				0.373	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		6	13	0	0	0	0.021553	0	6	13				
DNAJC16	23341	broad.mit.edu	37	1	15863305	15863305	+	Missense_Mutation	SNP	A	A	T			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr1:15863305A>T	ENST00000375847.3	+	4	734	c.570A>T	c.(568-570)gaA>gaT	p.E190D	DNAJC16_ENST00000375838.1_Missense_Mutation_p.E190D|DNAJC16_ENST00000375849.1_Missense_Mutation_p.E190D	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	190	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell redox homeostasis (GO:0045454)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AACTGGAAGAATTGGGTAAGA	0.398																																						ENST00000375847.3																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18						c.(568-570)gaA>gaT		DnaJ (Hsp40) homolog, subfamily C, member 16							54.0	54.0	54.0					1																	15863305		2203	4300	6503	SO:0001583	missense	23341				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr1:15863305A>T	AB023179	CCDS30606.1, CCDS72710.1	1p36.1	2011-09-02			ENSG00000116138	ENSG00000116138		"""Heat shock proteins / DNAJ (HSP40)"""	29157	protein-coding gene	gene with protein product							Standard	NM_015291		Approved	KIAA0962	uc001aws.3	Q9Y2G8	OTTHUMG00000002358	ENST00000375847.3:c.570A>T	1.37:g.15863305A>T	ENSP00000365007:p.Glu190Asp					DNAJC16_ENST00000375849.1_Missense_Mutation_p.E190D|DNAJC16_ENST00000375838.1_Missense_Mutation_p.E190D	p.E190D	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)	4	734	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	190			Thioredoxin.		Q68D57|Q86X32|Q8N5P4	Missense_Mutation	SNP	ENST00000375847.3	37	c.570A>T	CCDS30606.1	.	.	.	.	.	.	.	.	.	.	A	8.818	0.936965	0.18206	.	.	ENSG00000116138	ENST00000375847;ENST00000375838;ENST00000375849;ENST00000546230	T;T;T	0.38722	1.12;1.12;1.12	5.35	-3.51	0.04696	Thioredoxin domain (1);Thioredoxin-like fold (3);	0.516553	0.21839	N	0.068349	T	0.15998	0.0385	N	0.12746	0.255	0.18873	N	0.999983	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.05178	-1.0901	10	0.32370	T	0.25	-3.0459	1.8329	0.03134	0.3094:0.2686:0.3035:0.1184	.	190;190	Q9Y2G8;Q5TDG9	DJC16_HUMAN;.	D	190	ENSP00000365007:E190D;ENSP00000364998:E190D;ENSP00000365009:E190D	ENSP00000364998:E190D	E	+	3	2	DNAJC16	15735892	0.000000	0.05858	0.109000	0.21407	0.159000	0.22180	-0.610000	0.05629	-0.842000	0.04195	-0.331000	0.08364	GAA		0.398	DNAJC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006764.1	NM_015291		17	24	0	0	0	0.146539	0	17	24				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	49	0	0	0	0.009096	0	4	49				
DNAH3	55567	broad.mit.edu	37	16	21170720	21170720	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr16:21170720G>A	ENST00000261383.3	-	1	42	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	TMEM159_ENST00000572258.1_Intron|TMEM159_ENST00000572599.1_Intron|TMEM159_ENST00000233047.4_Intron|DNAH3_ENST00000415178.1_Missense_Mutation_p.P15S|TMEM159_ENST00000451578.2_Intron|TMEM159_ENST00000574092.1_Intron|TMEM159_ENST00000261388.3_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	15	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CCCGGATGGGGAGGGGCGGCC	0.622																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(43-45)Ccc>Tcc		dynein, axonemal, heavy chain 3							81.0	91.0	88.0					16																	21170720		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21170720G>A	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.43C>T	16.37:g.21170720G>A	ENSP00000261383:p.Pro15Ser					TMEM159_ENST00000572599.1_Intron|TMEM159_ENST00000451578.2_Intron|TMEM159_ENST00000572258.1_Intron|DNAH3_ENST00000415178.1_Missense_Mutation_p.P15S|TMEM159_ENST00000574092.1_Intron|TMEM159_ENST00000261388.3_Intron|TMEM159_ENST00000233047.4_Intron	p.P15S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	1	42	-			15			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.43C>T	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	11.66	1.705379	0.30232	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.21191	2.02;2.16	2.2	-3.25	0.05079	.	.	.	.	.	T	0.11239	0.0274	N	0.22421	0.69	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.29640	-1.0005	9	0.87932	D	0	.	3.5959	0.08006	0.5521:0.2084:0.2395:0.0	.	15	Q8TD57	DYH3_HUMAN	S	15	ENSP00000261383:P15S;ENSP00000394245:P15S	ENSP00000261383:P15S	P	-	1	0	DNAH3	21078221	0.001000	0.12720	0.022000	0.16811	0.178000	0.23041	0.296000	0.19083	-0.829000	0.04268	-0.264000	0.10439	CCC		0.622	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		48	68	0	0	0	0.139131	0	48	68				
SEC16A	9919	broad.mit.edu	37	9	139371685	139371685	+	Missense_Mutation	SNP	A	A	C			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr9:139371685A>C	ENST00000313050.7	-	1	456	c.383T>G	c.(382-384)tTg>tGg	p.L128W	SEC16A_ENST00000431893.2_5'Flank|SEC16A_ENST00000371706.3_5'Flank|SEC16A_ENST00000290037.6_5'Flank	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	0					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TGAAGGTGTCAATGCACCAGA	0.567																																						ENST00000313050.7																			0				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(382-384)tTg>tGg		SEC16 homolog A (S. cerevisiae)							84.0	88.0	87.0					9																	139371685		2036	4181	6217	SO:0001583	missense	9919				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		g.chr9:139371685A>C	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000313050.7:c.383T>G	9.37:g.139371685A>C	ENSP00000325827:p.Leu128Trp						p.L128W	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)	1	456	-		Myeloproliferative disorder(178;0.0511)	2098					A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	ENST00000313050.7	37	c.383T>G	CCDS55351.1	.	.	.	.	.	.	.	.	.	.	A	12.23	1.876786	0.33162	.	.	ENSG00000148396	ENST00000313050	T	0.24723	1.84	5.02	-1.11	0.09840	.	.	.	.	.	T	0.22044	0.0531	N	0.24115	0.695	0.09310	N	1	D	0.57257	0.979	P	0.49252	0.604	T	0.29852	-0.9998	8	.	.	.	.	12.8862	0.58045	0.2525:0.0:0.7475:0.0	.	128	F1T0I1	.	W	128	ENSP00000325827:L128W	.	L	-	2	0	SEC16A	138491506	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.165000	0.16564	-0.133000	0.11537	-0.274000	0.10170	TTG		0.567	SEC16A-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_088459		37	55	0	0	0	0.080422	0	37	55				
RYR3	6263	broad.mit.edu	37	15	33962623	33962623	+	Missense_Mutation	SNP	T	T	G			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr15:33962623T>G	ENST00000389232.4	+	38	5796	c.5726T>G	c.(5725-5727)gTt>gGt	p.V1909G	RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1909	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.V1909G(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTAGGGGTTCCTTTggaa	0.473																																						ENST00000389232.4																			1	Substitution - Missense(1)	p.V1909G(1)	kidney(1)	NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.(5725-5727)gTt>gGt		ryanodine receptor 3							29.0	34.0	33.0					15																	33962623		1904	4132	6036	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33962623T>G		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.5726T>G	15.37:g.33962623T>G	ENSP00000373884:p.Val1909Gly					RYR3_ENST00000415757.3_Missense_Mutation_p.V1909G	p.V1909G	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	38	5796	+		all_lung(180;7.18e-09)	1909			4 X approximate repeats.		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.5726T>G	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	15.07	2.722948	0.48728	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	T;T	0.68025	-0.3;-0.25	5.99	5.99	0.97316	.	0.238660	0.33610	N	0.004737	T	0.60418	0.2267	L	0.43923	1.385	0.58432	D	0.999993	B;B	0.29766	0.256;0.0	B;B	0.24848	0.056;0.0	T	0.61667	-0.7016	10	0.72032	D	0.01	.	15.6603	0.77182	0.0:0.0:0.0:1.0	.	1909;1909	Q15413-2;Q15413	.;RYR3_HUMAN	G	1909	ENSP00000373884:V1909G;ENSP00000399610:V1909G	ENSP00000354735:V1909G	V	+	2	0	RYR3	31749915	1.000000	0.71417	0.995000	0.50966	0.576000	0.36127	5.995000	0.70631	2.284000	0.76573	0.528000	0.53228	GTT		0.473	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			10	26	0	0	0	0.093190	0	10	26				
DENND5A	23258	broad.mit.edu	37	11	9161345	9161345	+	Missense_Mutation	SNP	T	T	C			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr11:9161345T>C	ENST00000328194.3	-	23	4057	c.3737A>G	c.(3736-3738)cAc>cGc	p.H1246R	DENND5A_ENST00000527700.1_Missense_Mutation_p.H589R|DENND5A_ENST00000530044.1_Missense_Mutation_p.T1235A|SCUBE2_ENST00000534295.1_5'Flank	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1246	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTCATACATGTGTGCAGTGAT	0.542																																						ENST00000328194.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(3736-3738)cAc>cGc		DENN/MADD domain containing 5A							141.0	102.0	115.0					11																	9161345		2201	4296	6497	SO:0001583	missense	23258							g.chr11:9161345T>C	AB029014	CCDS31423.1, CCDS58119.1	11p15.3	2012-10-03	2008-08-14	2008-08-14	ENSG00000184014	ENSG00000184014		"""DENN/MADD domain containing"""	19344	protein-coding gene	gene with protein product			"""RAB6 interacting protein 1"""	RAB6IP1		10470851	Standard	NM_015213		Approved	KIAA1091, FLJ22354, FLJ33829, FLJ43455	uc001mhl.3	Q6IQ26	OTTHUMG00000165716	ENST00000328194.3:c.3737A>G	11.37:g.9161345T>C	ENSP00000328524:p.His1246Arg					DENND5A_ENST00000527700.1_Missense_Mutation_p.H589R|DENND5A_ENST00000530044.1_Missense_Mutation_p.T1235A	p.H1246R	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN			23	4057	-			1246			RUN 2.		B4DJ15|E9PS91|Q96GN3|Q9H6U7|Q9UFV0|Q9UPR1	Missense_Mutation	SNP	ENST00000328194.3	37	c.3737A>G	CCDS31423.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.161|5.161	0.215222|0.215222	0.09810|0.09810	.|.	.|.	ENSG00000184014|ENSG00000184014	ENST00000328194;ENST00000527700|ENST00000530044;ENST00000528725;ENST00000533737;ENST00000525784	T;T|T	0.09723|0.03745	2.95;2.95|3.82	5.71|5.71	4.55|4.55	0.56014|0.56014	RUN (3);|.	0.095199|.	0.85682|.	D|.	0.000000|.	T|T	0.01029|0.01029	0.0034|0.0034	N|N	0.00162|0.00162	-1.95|-1.95	0.36176|0.36176	D|D	0.849086|0.849086	B|B	0.02656|0.02656	0.0|0.0	B|B	0.01281|0.04013	0.0|0.001	T|T	0.45600|0.45600	-0.9250|-0.9250	10|8	0.09084|.	T|.	0.74|.	.|.	12.2264|12.2264	0.54463|0.54463	0.1271:0.0:0.0:0.8729|0.1271:0.0:0.0:0.8729	.|.	1246|1235	Q6IQ26|E9PS91	DEN5A_HUMAN|.	R|A	1246;589|1235;145;154;225	ENSP00000328524:H1246R;ENSP00000432549:H589R|ENSP00000435866:T1235A	ENSP00000328524:H1246R|.	H|T	-|-	2|1	0|0	DENND5A|DENND5A	9117921|9117921	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.120000|5.120000	0.64685|0.64685	2.165000|2.165000	0.68154|0.68154	0.533000|0.533000	0.62120|0.62120	CAC|ACA		0.542	DENND5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385910.2	NM_015213		14	25	0	0	0	0.105934	0	14	25				
NUP93	9688	broad.mit.edu	37	16	56782202	56782202	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr16:56782202C>T	ENST00000308159.5	+	2	164	c.43C>T	c.(43-45)Cag>Tag	p.Q15*	NUP93_ENST00000569842.1_Nonsense_Mutation_p.Q15*	NM_014669.4	NP_055484.3	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	15					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)	p.Q15*(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GCAAGCTGAACAGCTTGCTGC	0.517																																					Colon(33;610 796 1305 1705 38917)	ENST00000569842.1																			1	Substitution - Nonsense(1)	p.Q15*(1)	endometrium(1)	breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						c.(43-45)Cag>Tag		nucleoporin 93kDa							67.0	65.0	66.0					16																	56782202		2198	4300	6498	SO:0001587	stop_gained	9688				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr16:56782202C>T	D42085	CCDS10769.1, CCDS55996.1	16q13	2008-02-05			ENSG00000102900	ENSG00000102900			28958	protein-coding gene	gene with protein product		614351				9348540, 9531546	Standard	NM_014669		Approved	KIAA0095	uc002eka.3	Q8N1F7	OTTHUMG00000133278	ENST00000308159.5:c.43C>T	16.37:g.56782202C>T	ENSP00000310668:p.Gln15*					NUP93_ENST00000308159.5_Nonsense_Mutation_p.Q15*	p.Q15*			Q8N1F7	NUP93_HUMAN			2	139	+			15					B3KPQ8|Q14705	Nonsense_Mutation	SNP	ENST00000308159.5	37	c.43C>T	CCDS10769.1	.	.	.	.	.	.	.	.	.	.	C	40	8.003070	0.98605	.	.	ENSG00000102900	ENST00000308159	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-22.0968	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	15	.	ENSP00000310668:Q15X	Q	+	1	0	NUP93	55339703	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.681000	0.84073	2.937000	0.99478	0.650000	0.86243	CAG		0.517	NUP93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257058.4	NM_014669		17	38	0	0	0	0.038395	0	17	38				
PLXNA4	91584	broad.mit.edu	37	7	131870080	131870080	+	Missense_Mutation	SNP	C	C	G			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr7:131870080C>G	ENST00000359827.3	-	16	4098	c.3136G>C	c.(3136-3138)Gag>Cag	p.E1046Q	PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1046Q			Q9HCM2	PLXA4_HUMAN	plexin A4	1046	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATTCTGGCTCAATCCGCACG	0.547																																						ENST00000359827.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3136-3138)Gag>Cag		plexin A4							111.0	115.0	114.0					7																	131870080		2048	4195	6243	SO:0001583	missense	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131870080C>G	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3136G>C	7.37:g.131870080C>G	ENSP00000352882:p.Glu1046Gln					PLXNA4_ENST00000321063.4_Missense_Mutation_p.E1046Q	p.E1046Q			Q9HCM2	PLXA4_HUMAN			16	4098	-			1046			IPT/TIG 3.		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	ENST00000359827.3	37	c.3136G>C	CCDS43646.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347121	0.82022	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.76968	-1.06;-1.06	5.6	5.6	0.85130	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.87366	0.6159	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	D	0.83659	0.0160	10	0.21014	T	0.42	.	19.6023	0.95568	0.0:1.0:0.0:0.0	.	1046	Q9HCM2	PLXA4_HUMAN	Q	1046	ENSP00000323194:E1046Q;ENSP00000352882:E1046Q	ENSP00000323194:E1046Q	E	-	1	0	PLXNA4	131520620	1.000000	0.71417	0.978000	0.43139	0.415000	0.31203	7.792000	0.85828	2.653000	0.90120	0.561000	0.74099	GAG		0.547	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775		3	60	0	0	0	0.115264	0	3	60				
HTRA3	94031	broad.mit.edu	37	4	8307709	8307709	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr4:8307709A>G	ENST00000307358.2	+	9	1412	c.1208A>G	c.(1207-1209)cAa>cGa	p.Q403R		NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	403	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						GGCGGCATCCAAGATGGTGAC	0.647																																						ENST00000307358.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						c.(1207-1209)cAa>cGa		HtrA serine peptidase 3							102.0	91.0	95.0					4																	8307709		2203	4300	6503	SO:0001583	missense	94031				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity	g.chr4:8307709A>G	AY040094	CCDS3400.1, CCDS75105.1	4p16.1	2008-02-05			ENSG00000170801	ENSG00000170801			30406	protein-coding gene	gene with protein product	"""pregnancy-related serine protease"""	608785				12513693, 14500695	Standard	XM_005248040		Approved	Tasp, Prsp	uc003gla.3	P83110	OTTHUMG00000090561	ENST00000307358.2:c.1208A>G	4.37:g.8307709A>G	ENSP00000303766:p.Gln403Arg						p.Q403R	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN			9	1412	+			403			PDZ.		Q7Z7A2	Missense_Mutation	SNP	ENST00000307358.2	37	c.1208A>G	CCDS3400.1	.	.	.	.	.	.	.	.	.	.	A	8.473	0.857947	0.17178	.	.	ENSG00000170801	ENST00000307358	T	0.71934	-0.61	4.08	4.08	0.47627	PDZ/DHR/GLGF (4);	0.281603	0.34652	N	0.003791	T	0.47340	0.1440	N	0.05414	-0.055	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.40346	-0.9568	10	0.10111	T	0.7	-15.1546	13.3595	0.60648	1.0:0.0:0.0:0.0	.	403	P83110	HTRA3_HUMAN	R	403	ENSP00000303766:Q403R	ENSP00000303766:Q403R	Q	+	2	0	HTRA3	8358609	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	4.548000	0.60718	1.635000	0.50512	0.248000	0.18094	CAA		0.647	HTRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092669.1	NM_053044		3	66	0	0	0	0.014758	0	3	66				
TUBB8P7	197331	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	byFrequency	TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr16:90161902A>G	ENST00000564451.1	+	0	1255				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537													.|||	3135	0.625998	0.9327	0.5014	5008	,	,		11498	0.7867		0.4702	False		,,,				2504	0.2945					ENST00000567960.1																			8	Substitution - Missense(8)	p.K213R(8)	kidney(4)|prostate(3)|urinary_tract(1)																																																0							g.chr16:90161902A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161902A>G						TUBB8P7_ENST00000564451.1_RNA								0	638	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	25	0	0	0	0.014758	0	3	25				
UHRF1BP1	54887	broad.mit.edu	37	6	34826174	34826174	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr6:34826174A>G	ENST00000192788.5	+	14	2212	c.2041A>G	c.(2041-2043)Acc>Gcc	p.T681A	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.T681A	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	681							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCAGCCTAATACCCTCCCTCC	0.488																																						ENST00000192788.5																			0				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						c.(2041-2043)Acc>Gcc		UHRF1 binding protein 1							121.0	116.0	118.0					6																	34826174		1916	4125	6041	SO:0001583	missense	54887							g.chr6:34826174A>G	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.2041A>G	6.37:g.34826174A>G	ENSP00000192788:p.Thr681Ala					UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.T681A	p.T681A	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN			14	2212	+			681					Q9NXE0	Missense_Mutation	SNP	ENST00000192788.5	37	c.2041A>G	CCDS43455.1	.	.	.	.	.	.	.	.	.	.	A	2.227	-0.377132	0.05000	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.08008	3.14;3.14	5.15	-4.69	0.03299	.	0.767375	0.12260	N	0.484811	T	0.01029	0.0034	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47837	-0.9086	10	0.18276	T	0.48	0.0031	1.8094	0.03087	0.2728:0.3551:0.2417:0.1304	.	681	Q6BDS2	URFB1_HUMAN	A	681	ENSP00000192788:T681A;ENSP00000400628:T681A	ENSP00000192788:T681A	T	+	1	0	UHRF1BP1	34934152	0.000000	0.05858	0.000000	0.03702	0.315000	0.28087	-0.398000	0.07259	-0.176000	0.10707	0.383000	0.25322	ACC		0.488	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		4	130	0	0	0	0.009096	0	4	130				
OR52N4	390072	broad.mit.edu	37	11	5776224	5776224	+	Missense_Mutation	SNP	G	G	A			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr11:5776224G>A	ENST00000317254.3	+	1	302	c.254G>A	c.(253-255)tGc>tAc	p.C85Y	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		AAAGCCCTCTGCATCTTCTGG	0.468																																						ENST00000317254.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(253-255)tGc>tAc		olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)							141.0	146.0	144.0					11																	5776224		2199	4296	6495	SO:0001583	missense	390072				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5776224G>A	AB065813	CCDS44528.1	11p15.4	2013-10-10	2013-10-10		ENSG00000181074	ENSG00000181074		"""GPCR / Class A : Olfactory receptors"""	15230	protein-coding gene	gene with protein product			"""olfactory receptor, family 52, subfamily N, member 4"""				Standard	NM_001005175		Approved		uc001mbu.3	Q8NGI2	OTTHUMG00000066887	ENST00000317254.3:c.254G>A	11.37:g.5776224G>A	ENSP00000323224:p.Cys85Tyr					TRIM5_ENST00000380027.1_Intron	p.C85Y	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)	1	302	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	85					B2RNP8|Q6IF77	Missense_Mutation	SNP	ENST00000317254.3	37	c.254G>A	CCDS44528.1	.	.	.	.	.	.	.	.	.	.	G	11.75	1.732342	0.30684	.	.	ENSG00000181074	ENST00000317254	T	0.03004	4.08	5.93	1.65	0.23941	GPCR, rhodopsin-like superfamily (1);	1.292380	0.05255	N	0.514769	T	0.05410	0.0143	L	0.37697	1.125	0.09310	N	1	B	0.28971	0.229	B	0.38296	0.27	T	0.47289	-0.9129	10	0.62326	D	0.03	.	3.6464	0.08187	0.0753:0.1954:0.3621:0.3673	.	85	Q8NGI2	O52N4_HUMAN	Y	85	ENSP00000323224:C85Y	ENSP00000323224:C85Y	C	+	2	0	OR52N4	5732800	0.000000	0.05858	0.974000	0.42286	0.986000	0.74619	-1.974000	0.01499	0.383000	0.24910	0.551000	0.68910	TGC		0.468	OR52N4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143350.1	NM_001005175		31	37	0	0	0	0.125774	0	31	37				
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs561841139		TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328																																						ENST00000564580.1																			25	Substitution - Missense(25)	p.W375R(25)	endometrium(19)|kidney(4)|prostate(2)																																																0							g.chr16:29110458T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110458T>C														0	1131	+									RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	N	5.632	0.301362	0.10678	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	N	0.000001	T	0.11239	0.0274	.	.	.	.	.	.	.	.	.	.	.	.	T	0.29701	-1.0003	5	0.02654	T	1	.	2.7527	0.05285	0.2724:0.5536:0.0:0.174	.	.	.	.	R	375	.	ENSP00000398611:W375R	W	+	1	0	AC009093.1	29017959	1.000000	0.71417	0.564000	0.28396	0.423000	0.31445	3.439000	0.52878	0.163000	0.19507	-1.160000	0.01791	TGG		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	NR_003369		6	45	0	0	0	0.021553	0	6	45				
CD248	57124	broad.mit.edu	37	11	66082772	66082772	+	Missense_Mutation	SNP	C	C	A			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr11:66082772C>A	ENST00000311330.3	-	1	1743	c.1727G>T	c.(1726-1728)aGa>aTa	p.R576I	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	576	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GGCCTGGGTTCTGAGGACAAG	0.607																																						ENST00000311330.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(1726-1728)aGa>aTa		CD248 molecule, endosialin	Cefalotin(DB00456)						119.0	131.0	127.0					11																	66082772		2200	4295	6495	SO:0001583	missense	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082772C>A	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1727G>T	11.37:g.66082772C>A	ENSP00000308117:p.Arg576Ile					RP11-867G23.13_ENST00000534065.1_RNA	p.R576I	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	1743	-			576			Pro-rich.		Q2M2V5|Q3SX55|Q96KB6	Missense_Mutation	SNP	ENST00000311330.3	37	c.1727G>T	CCDS8134.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.465408	0.43839	.	.	ENSG00000174807	ENST00000311330	D	0.89415	-2.51	4.41	1.14	0.20703	.	6.584470	0.00718	U	0.000870	T	0.80660	0.4665	N	0.22421	0.69	0.09310	N	1	P	0.36438	0.553	B	0.32465	0.146	T	0.71576	-0.4551	10	0.59425	D	0.04	-0.0494	3.3964	0.07307	0.0:0.3604:0.2091:0.4305	.	576	Q9HCU0	CD248_HUMAN	I	576	ENSP00000308117:R576I	ENSP00000308117:R576I	R	-	2	0	CD248	65839348	.	.	0.088000	0.20740	0.283000	0.27025	.	.	0.364000	0.24374	0.460000	0.39030	AGA		0.607	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		37	48	1	0	9.8876e-21	0.074837	2.01162e-20	37	48				
CD163	9332	broad.mit.edu	37	12	7651554	7651554	+	Missense_Mutation	SNP	C	C	T			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr12:7651554C>T	ENST00000359156.4	-	4	890	c.688G>A	c.(688-690)Gga>Aga	p.G230R	CD163_ENST00000396620.3_Missense_Mutation_p.G230R|CD163_ENST00000432237.2_Missense_Mutation_p.G230R|CD163_ENST00000541972.1_Missense_Mutation_p.G218R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	230	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GACTCATTTCCGTTGCATATA	0.433																																						ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(688-690)Gga>Aga		CD163 molecule							194.0	182.0	186.0					12																	7651554		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7651554C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.688G>A	12.37:g.7651554C>T	ENSP00000352071:p.Gly230Arg					CD163_ENST00000432237.2_Missense_Mutation_p.G230R|CD163_ENST00000541972.1_Missense_Mutation_p.G218R|CD163_ENST00000396620.3_Missense_Mutation_p.G230R	p.G230R	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			4	890	-			230			SRCR 2.		C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.688G>A	CCDS8578.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942641	0.73672	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.16	5.16	0.70880	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.082610	0.49916	D	0.000121	T	0.74313	0.3700	H	0.94385	3.53	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.82220	-0.0565	10	0.87932	D	0	.	16.5049	0.84268	0.0:1.0:0.0:0.0	.	230;230;230	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	R	230;218;230;230	ENSP00000352071:G230R;ENSP00000444071:G218R;ENSP00000379863:G230R;ENSP00000403885:G230R	ENSP00000352071:G230R	G	-	1	0	CD163	7542821	1.000000	0.71417	0.948000	0.38648	0.426000	0.31534	7.715000	0.84713	2.573000	0.86826	0.650000	0.86243	GGA		0.433	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		10	183	0	0	0	0.080935	0	10	183				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			0							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		3	52	0	0	0	0.009096	0	3	52				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		19	27	0	0	0	0.049695	0	19	27				
CWC25	54883	broad.mit.edu	37	17	36959028	36959028	+	Missense_Mutation	SNP	A	A	G			TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr17:36959028A>G	ENST00000225428.5	-	9	1385	c.1088T>C	c.(1087-1089)cTc>cCc	p.L363P	CWC25_ENST00000536127.1_Missense_Mutation_p.L300P|PIP4K2B_ENST00000269554.3_5'Flank	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	363										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						ATGCCTCTTGAGGATGTTCAG	0.517																																						ENST00000225428.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						c.(1087-1089)cTc>cCc		CWC25 spliceosome-associated protein homolog (S. cerevisiae)							202.0	206.0	205.0					17																	36959028		2011	4179	6190	SO:0001583	missense	54883							g.chr17:36959028A>G	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.1088T>C	17.37:g.36959028A>G	ENSP00000225428:p.Leu363Pro					CWC25_ENST00000536127.1_Missense_Mutation_p.L300P	p.L363P	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN			9	1385	-			363					A0JLM3|Q68DK5	Missense_Mutation	SNP	ENST00000225428.5	37	c.1088T>C	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	A	19.94	3.919323	0.73098	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	5.71	5.71	0.89125	.	0.060269	0.64402	D	0.000003	T	0.74007	0.3660	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.998	D;P	0.65233	0.933;0.889	T	0.74551	-0.3628	9	0.46703	T	0.11	.	14.8062	0.69959	1.0:0.0:0.0:0.0	.	300;363	B4DJK2;Q9NXE8	.;CWC25_HUMAN	P	363;300	.	ENSP00000225428:L363P	L	-	2	0	CWC25	34212554	1.000000	0.71417	0.875000	0.34327	0.377000	0.30045	8.619000	0.90938	2.186000	0.69663	0.533000	0.62120	CTC		0.517	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		3	114	0	0	0	0.115264	0	3	114				
HRNR	388697	broad.mit.edu	37	1	152193154	152193154	+	Silent	SNP	C	C	G	rs369387932		TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr1:152193154C>G	ENST00000368801.2	-	3	1026	c.951G>C	c.(949-951)ggG>ggC	p.G317G	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	317					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAGGAGTGCCCCGAACCGG	0.612																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(949-951)ggG>ggC		hornerin							79.0	89.0	85.0					1																	152193154		2203	4300	6503	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152193154C>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.951G>C	1.37:g.152193154C>G						FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	p.G317G	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1026	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		317					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.951G>C	CCDS30859.1																																																																																				0.612	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		3	110	0	0	0	0.115264	0	3	110				
TPTEP1	387590	broad.mit.edu	37	22	17131430	17131432	+	lincRNA	DEL	CAC	CAC	-	rs34598386|rs71313627|rs202098224	byFrequency	TCGA-DJ-A2Q4-01A-21D-A18F-08	TCGA-DJ-A2Q4-10A-01D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aa45da9-1edf-4aa5-914f-6e92a34427e2	7f85393d-8a76-4321-9d4d-788f57266a46	g.chr22:17131430_17131432delCAC	ENST00000426585.1	+	0	2456_2458									transmembrane phosphatase with tensin homology pseudogene 1																		caccatccatcaccaacagaaac	0.443														1332	0.265974	0.0219	0.1614	5008	,	,		23789	0.3542		0.336	False		,,,				2504	0.5072					ENST00000426585.1																			0																																																			0							g.chr22:17131430_17131432delCAC			22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131430_17131432delCAC														0	2456_2458	+									RNA	DEL	ENST00000426585.1	37																																																																																						0.443	TPTEP1-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000280575.1	NR_001591		4	3						4	3	---	---	---	---
