#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
TPRX1	284355	broad.mit.edu	37	19	48305251	48305251	+	Silent	SNP	A	A	G			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr19:48305251A>G	ENST00000322175.3	-	2	1172	c.1017T>C	c.(1015-1017)gaT>gaC	p.D339D	TPRX1_ENST00000543508.1_Silent_p.D329D|TPRX1_ENST00000535759.1_Silent_p.D436D	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	339						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		AGTCGGAGGCATCGGGGCTCT	0.622																																					Esophageal Squamous(123;175 2281 3051 32395)	ENST00000535759.1																			0				endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18						c.(1306-1308)gaT>gaC		tetra-peptide repeat homeobox 1							60.0	62.0	61.0					19																	48305251		2203	4300	6503	SO:0001819	synonymous_variant	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48305251A>G		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.1017T>C	19.37:g.48305251A>G						TPRX1_ENST00000322175.3_Silent_p.D339D|TPRX1_ENST00000543508.1_Silent_p.D329D	p.D436D			Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	4	1307	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	339					A5D8Y3|B2RPL5	Silent	SNP	ENST00000322175.3	37	c.1308T>C	CCDS33066.1																																																																																				0.622	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		25	11	0	0	0	1	0	25	11				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	43	0	0	0	1	0	5	43				
BDKRB2	624	broad.mit.edu	37	14	96707058	96707058	+	Silent	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr14:96707058C>T	ENST00000306005.3	+	3	589	c.393C>T	c.(391-393)cgC>cgT	p.R131R	BDKRB2_ENST00000542454.2_Silent_p.R104R|BDKRB2_ENST00000539359.1_Silent_p.R104R|BDKRB2_ENST00000554311.1_Silent_p.R131R|RP11-404P21.8_ENST00000553811.1_Intron	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	131					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	CGCTCTGCCGCGTGGTGAATG	0.582																																						ENST00000542454.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24						c.(310-312)cgC>cgT		bradykinin receptor B2							150.0	153.0	152.0					14																	96707058		2203	4300	6503	SO:0001819	synonymous_variant	0				arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	g.chr14:96707058C>T	S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.393C>T	14.37:g.96707058C>T						BDKRB2_ENST00000306005.3_Silent_p.R131R|RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.R104R|BDKRB2_ENST00000554311.1_Silent_p.R131R	p.R104R			P30411	BKRB2_HUMAN		COAD - Colon adenocarcinoma(157;0.226)	3	3400	+		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)	131						Silent	SNP	ENST00000306005.3	37	c.312C>T	CCDS9942.1																																																																																				0.582	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413294.1			72	121	0	0	0	1	0	72	121				
OR4D9	390199	broad.mit.edu	37	11	59282749	59282749	+	Missense_Mutation	SNP	C	C	T	rs200344506		TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr11:59282749C>T	ENST00000329328.3	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R122C(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GGCGTTTGACCGCTATATAGC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		18416	0.0		0.001	False		,,,				2504	0.0					ENST00000329328.3																			1	Substitution - Missense(1)	p.R122C(1)	lung(1)	endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						c.(364-366)Cgc>Tgc		olfactory receptor, family 4, subfamily D, member 9							83.0	80.0	81.0					11																	59282749		2201	4295	6496	SO:0001583	missense	390199				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59282749C>T	AB065861	CCDS31564.1	11q12.1	2012-08-09	2003-12-15		ENSG00000172742	ENSG00000172742		"""GPCR / Class A : Olfactory receptors"""	15178	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily D, member 9 pseudogene"""				Standard	NM_001004711		Approved		uc010rkv.2	Q8NGE8	OTTHUMG00000167343	ENST00000329328.3:c.364C>T	11.37:g.59282749C>T	ENSP00000328563:p.Arg122Cys						p.R122C	NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN			1	364	+			122					Q6IFF3	Missense_Mutation	SNP	ENST00000329328.3	37	c.364C>T	CCDS31564.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	6.036	0.375002	0.11409	.	.	ENSG00000172742	ENST00000329328	T	0.77358	-1.09	4.16	1.11	0.20524	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	U	0.000683	T	0.71879	0.3392	M	0.85462	2.755	0.37099	D	0.899789	P	0.36974	0.576	B	0.27715	0.082	T	0.69672	-0.5082	10	0.72032	D	0.01	-8.1774	5.8318	0.18584	0.1534:0.6702:0.0:0.1764	.	122	Q8NGE8	OR4D9_HUMAN	C	122	ENSP00000328563:R122C	ENSP00000328563:R122C	R	+	1	0	OR4D9	59039325	0.003000	0.15002	0.377000	0.26055	0.004000	0.04260	0.079000	0.14782	-0.000000	0.14550	-0.251000	0.11542	CGC		0.527	OR4D9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394237.1	NM_001004711		4	75	0	0	0	1	0	4	75				
PHC1	1911	broad.mit.edu	37	12	9083061	9083061	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:9083061G>A	ENST00000543824.1	+	8	975	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000544916.1_Missense_Mutation_p.A215T|PHC1_ENST00000433083.2_Missense_Mutation_p.A170T			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	215					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GAATCAACAGGCCTCAGCTCA	0.507																																						ENST00000433083.2																			0				breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						c.(508-510)Gcc>Acc		polyhomeotic homolog 1 (Drosophila)							20.0	17.0	18.0					12																	9083061		2203	4300	6503	SO:0001583	missense	1911				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr12:9083061G>A	U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.643G>A	12.37:g.9083061G>A	ENSP00000440674:p.Ala215Thr					PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000536844.1_5'UTR|PHC1_ENST00000543824.1_Missense_Mutation_p.A215T|PHC1_ENST00000544916.1_Missense_Mutation_p.A215T	p.A170T			P78364	PHC1_HUMAN			6	653	+			215					D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	ENST00000543824.1	37	c.508G>A	CCDS8597.1	.	.	.	.	.	.	.	.	.	.	G	12.50	1.957016	0.34565	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000539063;ENST00000542346	T;T;T;T	0.22336	1.96;1.96;1.98;1.96	6.04	4.02	0.46733	.	0.328889	0.29987	N	0.010686	T	0.03915	0.0110	N	0.00446	-1.495	0.80722	D	1	B;B;B	0.19706	0.038;0.022;0.022	B;B;B	0.18263	0.019;0.021;0.021	T	0.29852	-0.9998	10	0.02654	T	1	-9.8328	5.0962	0.14735	0.2538:0.0:0.5833:0.163	.	215;215;215	B4DF21;P78364;B2RXH1	.;PHC1_HUMAN;.	T	215;215;170;215;157;26	ENSP00000440674:A215T;ENSP00000251757:A215T;ENSP00000399194:A170T;ENSP00000437659:A215T	ENSP00000251757:A215T	A	+	1	0	PHC1	8974328	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.702000	0.47102	1.543000	0.49345	0.561000	0.74099	GCC		0.507	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399115.1	NM_004426		4	11	0	0	0	1	0	4	11				
TRIM27	5987	broad.mit.edu	37	6	28872363	28872363	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr6:28872363G>T	ENST00000377199.3	-	8	1382	c.1026C>A	c.(1024-1026)taC>taA	p.Y342*	TRIM27_ENST00000377194.3_Nonsense_Mutation_p.Y342*	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	342	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CCTGTTGGAGGTAACTGTACC	0.552			T	RET	papillary thyroid																																	ENST00000377199.3				Dom	yes		6	6p22	5987	T	tripartite motif-containing 27			E	RET		papillary thyroid		0				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						c.(1024-1026)taC>taA		tripartite motif containing 27							53.0	56.0	55.0					6																	28872363		1510	2709	4219	SO:0001587	stop_gained	5987				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding	g.chr6:28872363G>T	Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.1026C>A	6.37:g.28872363G>T	ENSP00000366404:p.Tyr342*					TRIM27_ENST00000377194.3_Nonsense_Mutation_p.Y342*	p.Y342*	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN			8	1382	-			342			B30.2/SPRY.		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Nonsense_Mutation	SNP	ENST00000377199.3	37	c.1026C>A	CCDS4654.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.838587|6.838587	0.97877|0.97877	.|.	.|.	ENSG00000204713|ENSG00000204713	ENST00000414543|ENST00000377199;ENST00000377194	.|.	.|.	.|.	4.98|4.98	3.16|3.16	0.36331|0.36331	.|.	.|0.152448	.|0.31257	.|N	.|0.007976	T|.	0.15998|.	0.0385|.	.|.	.|.	.|.	0.49582|0.49582	D|D	0.999803|0.999803	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.06679|.	-1.0813|.	4|.	.|0.09843	.|T	.|0.71	.|.	4.6426|4.6426	0.12556|0.12556	0.0852:0.1505:0.6092:0.1551|0.0852:0.1505:0.6092:0.1551	.|.	.|.	.|.	.|.	T|X	77|342	.|.	.|ENSP00000366399:Y342X	P|Y	-|-	1|3	0|2	TRIM27|TRIM27	28980342|28980342	0.000000|0.000000	0.05858|0.05858	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	0.073000|0.073000	0.14640|0.14640	0.732000|0.732000	0.32470|0.32470	-0.175000|-0.175000	0.13238|0.13238	CCT|TAC		0.552	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076442.2	NM_030950		15	20	1	0	2.23348e-06	1	2.23348e-06	15	20				
LRIG1	26018	broad.mit.edu	37	3	66433766	66433766	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr3:66433766C>T	ENST00000273261.3	-	15	2655	c.2131G>A	c.(2131-2133)Gcc>Acc	p.A711T	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.A688T	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	711	Ig-like C2-type 3.				innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CATTGGAGGGCCACTGTTTCT	0.597																																						ENST00000383703.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(2062-2064)Gcc>Acc		leucine-rich repeats and immunoglobulin-like domains 1							93.0	92.0	93.0					3																	66433766		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66433766C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2131G>A	3.37:g.66433766C>T	ENSP00000273261:p.Ala711Thr					SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000273261.3_Missense_Mutation_p.A711T	p.A688T			Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	16	2665	-		Lung NSC(201;0.0101)	711			Ig-like C2-type 2.		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.2062G>A	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.211513	0.79240	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.66280	-0.2;-0.2	5.5	5.5	0.81552	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.43322	0.1242	N	0.00165	-1.945	0.58432	D	0.999993	P;P;P	0.47604	0.868;0.898;0.898	P;P;P	0.55508	0.669;0.777;0.777	T	0.75221	-0.3394	10	0.66056	D	0.02	.	19.404	0.94641	0.0:1.0:0.0:0.0	.	688;711;711	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	T	711;688;614	ENSP00000273261:A711T;ENSP00000373208:A688T	ENSP00000273261:A711T	A	-	1	0	LRIG1	66516456	1.000000	0.71417	0.963000	0.40424	0.072000	0.16883	7.818000	0.86416	2.580000	0.87095	0.655000	0.94253	GCC		0.597	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541		27	45	0	0	0	1	0	27	45				
KIFAP3	22920	broad.mit.edu	37	1	170003625	170003625	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:170003625A>C	ENST00000361580.2	-	7	857	c.630T>G	c.(628-630)ttT>ttG	p.F210L	KIFAP3_ENST00000367767.1_Missense_Mutation_p.F166L|KIFAP3_ENST00000490550.1_5'Flank|KIFAP3_ENST00000367765.1_Missense_Mutation_p.F170L|KIFAP3_ENST00000538366.1_Missense_Mutation_p.F132L	NM_014970.3	NP_055785.2	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	210					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|membrane organization (GO:0061024)|microtubule-based movement (GO:0007018)|microtubule-based process (GO:0007017)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of calcium-dependent cell-cell adhesion (GO:0046587)|protein complex assembly (GO:0006461)|protein localization (GO:0008104)|signal transduction (GO:0007165)	centrosome (GO:0005813)|condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|microtubule cytoskeleton (GO:0015630)	kinesin binding (GO:0019894)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAAGTCCATGAAATTGAGAAA	0.299																																						ENST00000367765.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(508-510)ttT>ttG		kinesin-associated protein 3							43.0	43.0	43.0					1																	170003625		2202	4295	6497	SO:0001583	missense	22920				blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	g.chr1:170003625A>C	U59919	CCDS1288.1, CCDS55659.1, CCDS55660.1, CCDS55661.1	1q24.2	2012-09-20			ENSG00000075945	ENSG00000075945			17060	protein-coding gene	gene with protein product	"""Smg GDS"""	601836				8900189	Standard	NM_014970		Approved	SMAP, KAP3, FLA3, KAP-1	uc001ggv.3	Q92845	OTTHUMG00000035947	ENST00000361580.2:c.630T>G	1.37:g.170003625A>C	ENSP00000354560:p.Phe210Leu					KIFAP3_ENST00000361580.2_Missense_Mutation_p.F210L|KIFAP3_ENST00000538366.1_Missense_Mutation_p.F132L|KIFAP3_ENST00000367767.1_Missense_Mutation_p.F166L	p.F170L	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN			7	2011	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		210					B1AKU4|B1AKU5|B2RDL1|B7Z8A3|F5H591|Q8NHU7|Q9H416	Missense_Mutation	SNP	ENST00000361580.2	37	c.510T>G	CCDS1288.1	.	.	.	.	.	.	.	.	.	.	A	18.79	3.698693	0.68501	.	.	ENSG00000075945	ENST00000361580;ENST00000367765;ENST00000367767;ENST00000538366	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.53	3.17	0.36434	.	0.044889	0.85682	N	0.000000	T	0.53530	0.1802	M	0.65320	2	0.80722	D	1	B;D;D	0.76494	0.309;0.999;0.997	B;D;D	0.83275	0.126;0.996;0.989	T	0.54543	-0.8278	9	.	.	.	-16.6075	7.6891	0.28557	0.8062:0.0:0.0689:0.1249	.	132;166;210	B7Z8A3;B1AKU5;Q92845	.;.;KIFA3_HUMAN	L	210;170;166;132	ENSP00000354560:F210L;ENSP00000356739:F170L;ENSP00000356741:F166L;ENSP00000444622:F132L	.	F	-	3	2	KIFAP3	168270249	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	3.190000	0.50973	0.456000	0.26937	0.533000	0.62120	TTT		0.299	KIFAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087568.1	NM_014970		12	25	0	0	0	1	0	12	25				
SEMA6D	80031	broad.mit.edu	37	15	48063212	48063212	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr15:48063212C>T	ENST00000316364.5	+	19	2891	c.2452C>T	c.(2452-2454)Cca>Tca	p.P818S	SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000536845.2_Missense_Mutation_p.P818S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P756S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P775S|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P743S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P756S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P799S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P756S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P762S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	818					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.P756S(1)|p.P818S(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ACCTCATTCCCCATTAAGTCA	0.488																																						ENST00000316364.5																			2	Substitution - Missense(2)	p.P756S(1)|p.P818S(1)	lung(2)	biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(2452-2454)Cca>Tca		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							98.0	96.0	97.0					15																	48063212		2198	4297	6495	SO:0001583	missense	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48063212C>T	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.2452C>T	15.37:g.48063212C>T	ENSP00000324857:p.Pro818Ser					SEMA6D_ENST00000536845.2_Missense_Mutation_p.P818S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P775S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P762S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P756S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P799S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P756S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P743S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P756S	p.P818S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	19	2891	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	818					A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	ENST00000316364.5	37	c.2452C>T	CCDS32225.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.236995	0.39498	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428	T;T;T;T;T;T;T;T	0.18657	2.2;2.26;2.26;2.26;2.2;2.2;2.2;2.21	5.06	4.14	0.48551	.	0.385921	0.29383	N	0.012316	T	0.22936	0.0554	L	0.42245	1.32	0.80722	D	1	P;P;B;P	0.48089	0.818;0.905;0.128;0.818	B;P;B;B	0.45610	0.311;0.487;0.146;0.311	T	0.01591	-1.1317	10	0.37606	T	0.19	.	13.3412	0.60545	0.0:0.9241:0.0:0.0759	.	743;762;818;756	Q8NFY4-3;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;SEM6D_HUMAN;.	S	756;818;818;799;775;762;756;743	ENSP00000442040:P756S;ENSP00000446152:P818S;ENSP00000324857:P818S;ENSP00000374084:P799S;ENSP00000374083:P775S;ENSP00000346786:P762S;ENSP00000350770:P756S;ENSP00000374079:P743S	ENSP00000324857:P818S	P	+	1	0	SEMA6D	45850504	1.000000	0.71417	0.981000	0.43875	0.836000	0.47400	3.295000	0.51794	1.349000	0.45751	0.563000	0.77884	CCA		0.488	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	NM_024966		22	68	0	0	0	1	0	22	68				
POU5F2	134187	broad.mit.edu	37	5	93076551	93076551	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr5:93076551A>G	ENST00000510627.4	-	1	792	c.719T>C	c.(718-720)aTc>aCc	p.I240T	FAM172A_ENST00000509163.1_Intron|POU5F2_ENST00000606183.1_5'UTR|RP11-185E12.2_ENST00000606528.1_RNA|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000505869.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	240					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		AATGTGGCTGATTTGCTGGGG	0.552																																						ENST00000510627.4																			0											c.(718-720)aTc>aCc		POU domain class 5, transcription factor 2							50.0	50.0	50.0					5																	93076551		1990	4179	6169	SO:0001583	missense	134187					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:93076551A>G		CCDS59489.1	5q15	2011-06-20				ENSG00000248483		"""Homeoboxes / POU class"""	26367	protein-coding gene	gene with protein product						7908264	Standard	NM_153216		Approved	SPRM-1, FLJ25680	uc003kkl.1	Q8N7G0		ENST00000510627.4:c.719T>C	5.37:g.93076551A>G	ENSP00000464890:p.Ile240Thr					FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron	p.I240T	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)	1	792	-		all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)	240					Q15169|Q6MZL7|Q8N748	Missense_Mutation	SNP	ENST00000510627.4	37	c.719T>C	CCDS59489.1																																																																																				0.552	POU5F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369873.5	NM_153216		10	22	0	0	0	1	0	10	22				
KCNH3	23416	broad.mit.edu	37	12	49935464	49935464	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:49935464G>A	ENST00000257981.6	+	3	622	c.362G>A	c.(361-363)gGg>gAg	p.G121E	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	121	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AATGAGAAAGGGGAGGTGGCT	0.542																																						ENST00000257981.6																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						c.(361-363)gGg>gAg		potassium voltage-gated channel, subfamily H (eag-related), member 3							184.0	195.0	192.0					12																	49935464		2203	4300	6503	SO:0001583	missense	23416				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity	g.chr12:49935464G>A	AB022696	CCDS8786.1	12q13	2012-07-05				ENSG00000135519		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6252	protein-coding gene	gene with protein product		604527				10455180, 16382104	Standard	NM_012284		Approved	Kv12.2, BEC1, elk2	uc001ruh.1	Q9ULD8	OTTHUMG00000169517	ENST00000257981.6:c.362G>A	12.37:g.49935464G>A	ENSP00000257981:p.Gly121Glu					KCNH3_ENST00000550434.1_3'UTR	p.G121E	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN			3	622	+			121			PAC.		Q9UQ06	Missense_Mutation	SNP	ENST00000257981.6	37	c.362G>A	CCDS8786.1	.	.	.	.	.	.	.	.	.	.	G	34	5.314708	0.95655	.	.	ENSG00000135519	ENST00000257981	D	0.99832	-7.02	5.1	5.1	0.69264	PAS-associated, C-terminal (1);PAS (1);PAS fold-4 (1);	0.000000	0.46442	D	0.000288	D	0.99806	0.9916	M	0.87180	2.865	0.48830	D	0.999716	D	0.60575	0.988	D	0.69142	0.962	D	0.97346	0.9960	10	0.45353	T	0.12	.	16.4123	0.83722	0.0:0.0:1.0:0.0	.	121	Q9ULD8	KCNH3_HUMAN	E	121	ENSP00000257981:G121E	ENSP00000257981:G121E	G	+	2	0	KCNH3	48221731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.646000	0.98474	2.825000	0.97269	0.655000	0.94253	GGG		0.542	KCNH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404571.2	NM_012284		61	129	0	0	0	1	0	61	129				
KIAA1244	57221	broad.mit.edu	37	6	138584709	138584709	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr6:138584709G>A	ENST00000251691.4	+	12	2255	c.2089G>A	c.(2089-2091)Gac>Aac	p.D697N		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGAGGAGGTGGACACCGCTCT	0.507																																						ENST00000251691.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44						c.(2089-2091)Gac>Aac		KIAA1244							50.0	55.0	53.0					6																	138584709		2192	4290	6482	SO:0001583	missense	57221				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr6:138584709G>A	AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.2089G>A	6.37:g.138584709G>A	ENSP00000251691:p.Asp697Asn						p.D697N	NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)	12	2255	+	Breast(32;0.135)		697			SEC7.			Missense_Mutation	SNP	ENST00000251691.4	37	c.2089G>A	CCDS5189.2	.	.	.	.	.	.	.	.	.	.	G	17.92	3.507240	0.64410	.	.	ENSG00000112379	ENST00000251691	T	0.54866	0.55	5.47	5.47	0.80525	SEC7-like (1);	2.293380	0.01349	N	0.011830	T	0.73690	0.3619	M	0.73962	2.25	0.80722	D	1	D	0.69078	0.997	D	0.77004	0.989	T	0.61237	-0.7103	10	0.87932	D	0	-29.8514	19.3197	0.94233	0.0:0.0:1.0:0.0	.	697	Q5TH69	BIG3_HUMAN	N	697	ENSP00000251691:D697N	ENSP00000251691:D697N	D	+	1	0	KIAA1244	138626402	1.000000	0.71417	0.999000	0.59377	0.012000	0.07955	9.454000	0.97621	2.569000	0.86673	0.655000	0.94253	GAC		0.507	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042425.4	NM_020340		23	26	0	0	0	1	0	23	26				
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr19:42791757C>T	ENST00000575354.2	+	5	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000572681.2_Missense_Mutation_p.R1124W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		4	Substitution - Missense(4)	p.R215W(4)	central_nervous_system(4)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3370-3372)Cgg>Tgg		capicua transcriptional repressor							64.0	64.0	64.0					19																	42791757		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791757C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.643C>T	19.37:g.42791757C>T	ENSP00000458663:p.Arg215Trp					CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W	p.R1124W			Q96RK0	CIC_HUMAN			6	3438	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3370C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199892	0.58126	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.82033	0.4949	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85234	0.1034	8	0.87932	D	0	-14.3323	9.6958	0.40156	0.2069:0.7931:0.0:0.0	.	215	Q96RK0	CIC_HUMAN	W	215	.	ENSP00000160740:R215W	R	+	1	2	CIC	47483597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.293000	0.59037	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			23	11	0	0	0	1	0	23	11				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			15	30	0	0	0	1	0	15	30				
WDR76	79968	broad.mit.edu	37	15	44150878	44150878	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr15:44150878T>G	ENST00000263795.6	+	11	1489	c.1419T>G	c.(1417-1419)caT>caG	p.H473Q	WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000381246.2_Missense_Mutation_p.H409Q	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	473										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		GGGATACTCATATTTATGATG	0.383																																						ENST00000263795.6																			0				breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20						c.(1417-1419)caT>caG		WD repeat domain 76							138.0	134.0	135.0					15																	44150878		2198	4298	6496	SO:0001583	missense	79968							g.chr15:44150878T>G	AK023035	CCDS10106.1, CCDS53938.1	15q15.3	2013-01-09			ENSG00000092470	ENSG00000092470		"""WD repeat domain containing"""	25773	protein-coding gene	gene with protein product						12860291	Standard	NM_024908		Approved	FLJ12973	uc001zti.2	Q9H967	OTTHUMG00000060143	ENST00000263795.6:c.1419T>G	15.37:g.44150878T>G	ENSP00000263795:p.His473Gln					WDR76_ENST00000381246.2_Missense_Mutation_p.H409Q|WDR76_ENST00000478130.1_3'UTR	p.H473Q	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)	11	1489	+		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)	473					A0MNP5|Q05CI4	Missense_Mutation	SNP	ENST00000263795.6	37	c.1419T>G	CCDS10106.1	.	.	.	.	.	.	.	.	.	.	T	9.370	1.070232	0.20147	.	.	ENSG00000092470	ENST00000263795;ENST00000381246	T;T	0.65178	-0.14;-0.14	5.91	-2.42	0.06542	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.348037	0.33610	N	0.004736	T	0.52240	0.1722	M	0.70275	2.135	0.09310	N	1	B	0.22683	0.073	B	0.21360	0.034	T	0.45469	-0.9259	10	0.31617	T	0.26	-5.2014	8.0223	0.30417	0.0:0.4068:0.1162:0.477	.	473	Q9H967	WDR76_HUMAN	Q	473;409	ENSP00000263795:H473Q;ENSP00000370645:H409Q	ENSP00000263795:H473Q	H	+	3	2	WDR76	41938170	0.012000	0.17670	0.144000	0.22314	0.721000	0.41392	-0.292000	0.08332	-0.079000	0.12707	0.379000	0.24179	CAT		0.383	WDR76-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000133482.2	NM_024908		11	73	0	0	0	1	0	11	73				
CDH8	1006	broad.mit.edu	37	16	61851533	61851533	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr16:61851533G>A	ENST00000577390.1	-	7	2081	c.1127C>T	c.(1126-1128)gCg>gTg	p.A376V	CDH8_ENST00000299345.6_Missense_Mutation_p.A376V|CDH8_ENST00000577730.1_Missense_Mutation_p.A376V|CDH8_ENST00000584337.1_Missense_Mutation_p.A376V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	376	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTGACTGTCGCCGTGTCTTT	0.483																																						ENST00000577390.1																			0				biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112						c.(1126-1128)gCg>gTg		cadherin 8, type 2							94.0	76.0	82.0					16																	61851533		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61851533G>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1127C>T	16.37:g.61851533G>A	ENSP00000462701:p.Ala376Val					CDH8_ENST00000299345.6_Missense_Mutation_p.A376V|CDH8_ENST00000584337.1_Missense_Mutation_p.A376V|CDH8_ENST00000577730.1_Missense_Mutation_p.A376V	p.A376V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	7	2081	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	376			Cadherin 3.		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.1127C>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054912	0.75960	.	.	ENSG00000150394	ENST00000299345	T	0.01787	4.64	6.17	6.17	0.99709	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.07818	0.0196	L	0.49350	1.555	0.80722	D	1	D;D	0.76494	0.985;0.999	B;P	0.61201	0.325;0.885	T	0.08554	-1.0716	10	0.45353	T	0.12	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	192;376	Q3LID3;P55286	.;CADH8_HUMAN	V	376	ENSP00000299345:A376V	ENSP00000299345:A376V	A	-	2	0	CDH8	60409034	1.000000	0.71417	0.869000	0.34112	0.921000	0.55340	7.600000	0.82769	2.941000	0.99782	0.655000	0.94253	GCG		0.483	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796		12	29	0	0	0	1	0	12	29				
SLC6A20	54716	broad.mit.edu	37	3	45804412	45804412	+	Silent	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr3:45804412G>A	ENST00000358525.4	-	9	1571	c.1456C>T	c.(1456-1458)Ctg>Ttg	p.L486L	SLC6A20_ENST00000456124.2_Silent_p.L486L|SLC6A20_ENST00000353278.4_Silent_p.L449L|SLC6A20_ENST00000493980.1_5'UTR	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	486					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|glycine transport (GO:0015816)|ion transport (GO:0006811)|proline transport (GO:0015824)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CACCTCCTCAGCCCGTACACG	0.552																																						ENST00000358525.4																			0				breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13						c.(1456-1458)Ctg>Ttg		solute carrier family 6 (proline IMINO transporter), member 20							151.0	127.0	135.0					3																	45804412		2203	4300	6503	SO:0001819	synonymous_variant	54716				cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr3:45804412G>A	AF075260	CCDS2730.1, CCDS43077.1	3p21.6	2013-05-22			ENSG00000163817	ENSG00000163817		"""Solute carriers"""	30927	protein-coding gene	gene with protein product		605616				9932288, 11352561	Standard	NM_022405		Approved	XT3, Xtrp3	uc011bai.2	Q9NP91	OTTHUMG00000133446	ENST00000358525.4:c.1456C>T	3.37:g.45804412G>A						SLC6A20_ENST00000456124.2_Silent_p.L486L|SLC6A20_ENST00000493980.1_5'UTR|SLC6A20_ENST00000353278.4_Silent_p.L449L	p.L486L	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)	9	1571	-			486					A1A4F2|O75590|Q8TF10|Q9NPQ2|Q9NQ77	Silent	SNP	ENST00000358525.4	37	c.1456C>T	CCDS43077.1																																																																																				0.552	SLC6A20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257318.3	NM_020208		22	81	0	0	0	1	0	22	81				
TOP3B	8940	broad.mit.edu	37	22	22324757	22324757	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr22:22324757C>T	ENST00000398793.2	-	6	840	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	TOP3B_ENST00000357179.5_Missense_Mutation_p.V136I|TOP3B_ENST00000413067.2_Intron	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	136	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TTGTTCATGACGGGCAGAACA	0.607																																						ENST00000398793.2																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26						c.(406-408)Gtc>Atc		topoisomerase (DNA) III beta							67.0	57.0	60.0					22																	22324757		2203	4300	6503	SO:0001583	missense	8940				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding	g.chr22:22324757C>T	AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.406G>A	22.37:g.22324757C>T	ENSP00000381773:p.Val136Ile					TOP3B_ENST00000413067.2_Intron|TOP3B_ENST00000357179.5_Missense_Mutation_p.V136I	p.V136I	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	6	840	-	Colorectal(54;0.105)		136			Toprim.		A0M8Q3|Q9BUP5	Missense_Mutation	SNP	ENST00000398793.2	37	c.406G>A	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229377	0.39399	.	.	ENSG00000100038	ENST00000357179;ENST00000398793;ENST00000424393	T;T;T	0.22743	1.94;1.94;1.94	4.87	3.85	0.44370	DNA topoisomerase, type IA, core domain (1);Toprim domain (2);	0.129763	0.52532	N	0.000074	T	0.22627	0.0546	M	0.74467	2.265	0.80722	D	1	B	0.19200	0.034	B	0.16289	0.015	T	0.04767	-1.0928	10	0.16420	T	0.52	.	10.6385	0.45579	0.0:0.845:0.0:0.155	.	136	O95985	TOP3B_HUMAN	I	136	ENSP00000349705:V136I;ENSP00000381773:V136I;ENSP00000390977:V136I	ENSP00000349705:V136I	V	-	1	0	TOP3B	20654757	1.000000	0.71417	0.900000	0.35374	0.684000	0.39900	4.799000	0.62517	1.290000	0.44636	0.561000	0.74099	GTC		0.607	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935		8	10	0	0	0	1	0	8	10				
MYH11	4629	broad.mit.edu	37	16	15839063	15839063	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr16:15839063C>T	ENST00000300036.5	-	20	2552	c.2443G>A	c.(2443-2445)Gcc>Acc	p.A815T	MYH11_ENST00000396324.3_Missense_Mutation_p.A822T|MYH11_ENST00000452625.2_Missense_Mutation_p.A822T|MYH11_ENST00000576790.2_Missense_Mutation_p.A815T	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	815	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCTTCATGGCGGTCAGCTGC	0.617			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(2443-2445)Gcc>Acc		myosin, heavy chain 11, smooth muscle							68.0	64.0	65.0					16																	15839063		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15839063C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.2443G>A	16.37:g.15839063C>T	ENSP00000300036:p.Ala815Thr					MYH11_ENST00000452625.2_Missense_Mutation_p.A822T|MYH11_ENST00000396324.3_Missense_Mutation_p.A822T|MYH11_ENST00000576790.1_Missense_Mutation_p.A815T|MYH11_ENST00000300036.5_Missense_Mutation_p.A815T	p.A815T	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			20	2549	-			815			IQ.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.2443G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	34	5.324599	0.95708	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	D	0.91520	0.7322	H	0.95745	3.715	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.935	D	0.94273	0.7512	10	0.87932	D	0	.	16.5013	0.84257	0.0:1.0:0.0:0.0	.	822;815;822;815;822	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	T	815;815;822;822;822	ENSP00000300036:A815T;ENSP00000345136:A815T;ENSP00000379616:A822T;ENSP00000407821:A822T	ENSP00000300036:A815T	A	-	1	0	MYH11	15746564	1.000000	0.71417	0.936000	0.37596	0.966000	0.64601	7.810000	0.86072	2.112000	0.64535	0.549000	0.68633	GCC		0.617	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		4	51	0	0	0	1	0	4	51				
KMT2C	58508	broad.mit.edu	37	7	151962268	151962268	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr7:151962268A>G	ENST00000262189.6	-	8	1257	c.1039T>C	c.(1039-1041)Tgc>Cgc	p.C347R	KMT2C_ENST00000355193.2_Missense_Mutation_p.C347R	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	347			C -> G (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.C347G(1)									GGGCTGTCGCACACTGCACAG	0.373																																						ENST00000355193.2																			1	Substitution - Missense(1)	p.C347G(1)	large_intestine(1)								c.(1039-1041)Tgc>Cgc		lysine (K)-specific methyltransferase 2C							108.0	97.0	101.0					7																	151962268		2203	4298	6501	SO:0001583	missense	58508							g.chr7:151962268A>G	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1039T>C	7.37:g.151962268A>G	ENSP00000262189:p.Cys347Arg					KMT2C_ENST00000262189.6_Missense_Mutation_p.C347R	p.C347R							8	1257	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.1039T>C	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.614399	0.28712	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.99839	-7.07;-7.07	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.45867	U	0.000337	D	0.99849	0.9930	M	0.92317	3.295	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.96512	0.9379	10	0.87932	D	0	.	14.395	0.67005	1.0:0.0:0.0:0.0	.	347	Q8NEZ4	MLL3_HUMAN	R	347	ENSP00000262189:C347R;ENSP00000347325:C347R	ENSP00000262189:C347R	C	-	1	0	MLL3	151593201	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	9.283000	0.95860	1.843000	0.53566	0.455000	0.32223	TGC		0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			7	178	0	0	0	1	0	7	178				
CABP2	51475	broad.mit.edu	37	11	67287397	67287397	+	Silent	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr11:67287397C>T	ENST00000294288.4	-	6	573	c.504G>A	c.(502-504)ggG>ggA	p.G168G	CABP2_ENST00000353903.5_Silent_p.G111G	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	168	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						TGCGGCCGTCCCCATTGGTGT	0.687																																						ENST00000294288.4																			0				endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						c.(502-504)ggG>ggA		calcium binding protein 2							32.0	31.0	31.0					11																	67287397		2198	4294	6492	SO:0001819	synonymous_variant	51475				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr11:67287397C>T	AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"""EF-hand domain containing"""	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.504G>A	11.37:g.67287397C>T						CABP2_ENST00000353903.5_Silent_p.G111G	p.G168G	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN			6	573	-			168			EF-hand 3.			Silent	SNP	ENST00000294288.4	37	c.504G>A	CCDS8170.1																																																																																				0.687	CABP2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000397516.1			6	9	0	0	0	1	0	6	9				
MAML3	55534	broad.mit.edu	37	4	140811117	140811117	+	Silent	SNP	C	C	T	rs62344938		TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr4:140811117C>T	ENST00000509479.2	-	2	2329	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	MAML3_ENST00000398940.1_Silent_p.Q30Q|MAML3_ENST00000327122.5_Silent_p.Q335Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgttgct	0.547																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1471-1473)caG>caA		mastermind-like 3 (Drosophila)							16.0	20.0	18.0					4																	140811117		2191	4287	6478	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811117C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1473G>A	4.37:g.140811117C>T						MAML3_ENST00000327122.5_Silent_p.Q335Q|MAML3_ENST00000398940.1_Silent_p.Q30Q	p.Q491Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2329	-	all_hematologic(180;0.162)		491			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1473G>A	CCDS54805.1																																																																																				0.547	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			3	30	0	0	0	1	0	3	30				
TUBBP5	643224	broad.mit.edu	37	9	141070687	141070687	+	RNA	SNP	C	C	T	rs199688784	byFrequency	TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr9:141070687C>T	ENST00000503395.1	+	0	1462									tubulin, beta pseudogene 5																		ACAACTGGGCCAAGGGACGCT	0.577																																						ENST00000503395.1																			0																																																			0							g.chr9:141070687C>T	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070687C>T														0	1462	+									RNA	SNP	ENST00000503395.1	37																																																																																						0.577	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		3	3	0	0	0	1	0	3	3				
CROCCP2	84809	broad.mit.edu	37	1	16945358	16945358	+	lincRNA	SNP	G	G	C	rs945905	byFrequency	TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:16945358G>C	ENST00000412962.1	-	0	2161				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGTAGGAGAAGAGAGAGGAAG	0.567																																						ENST00000412962.1																			0																																																			0							g.chr1:16945358G>C	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945358G>C														0	2161	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.567	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		3	11	0	0	0	1	0	3	11				
EFEMP1	2202	broad.mit.edu	37	2	56108807	56108807	+	Missense_Mutation	SNP	G	G	A	rs398123542		TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr2:56108807G>A	ENST00000394555.2	-	5	1015	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	EFEMP1_ENST00000424836.2_Missense_Mutation_p.R136W|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R194W|EFEMP1_ENST00000394554.1_Missense_Mutation_p.R194W	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	194	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAGGATCCCCGTAAATTGATG	0.512																																					GBM(92;934 1319 7714 28760 40110)	ENST00000394555.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						c.(580-582)Cgg>Tgg		EGF containing fibulin-like extracellular matrix protein 1							261.0	198.0	220.0					2																	56108807		2203	4300	6503	SO:0001583	missense	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56108807G>A	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.580C>T	2.37:g.56108807G>A	ENSP00000378058:p.Arg194Trp					EFEMP1_ENST00000394554.1_Missense_Mutation_p.R194W|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R194W|EFEMP1_ENST00000424836.2_Missense_Mutation_p.R136W	p.R194W	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		5	1015	-			194			EGF-like 2; calcium-binding (Potential).		A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	c.580C>T	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613625	0.46631	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;D;D	0.92249	-3.0;-3.0;-3.0;-3.0	5.9	2.72	0.32119	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.56097	D	0.000025	D	0.93582	0.7951	L	0.48642	1.525	0.23946	N	0.99638	P;D	0.89917	0.913;1.0	B;D	0.97110	0.088;1.0	D	0.87466	0.2411	10	0.38643	T	0.18	.	13.5779	0.61885	0.0:0.0:0.3119:0.6881	.	136;194	B4DW75;Q12805	.;FBLN3_HUMAN	W	194;194;50;136;194	ENSP00000378058:R194W;ENSP00000378057:R194W;ENSP00000399145:R136W;ENSP00000347596:R194W	ENSP00000347596:R194W	R	-	1	2	EFEMP1	55962311	0.489000	0.26004	0.762000	0.31397	0.402000	0.30811	1.738000	0.38207	0.763000	0.33175	0.650000	0.86243	CGG		0.512	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			32	52	0	0	0	1	0	32	52				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	57	0	0	0	1	0	3	57				
BCRP7	100133163	broad.mit.edu	37	22	18844900	18844900	+	3'UTR	SNP	C	C	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr22:18844900C>T	ENST00000412938.1	+	0	3150																											ACAGCTTCAGCGTGCCTGCGA	0.577																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844900C>T																												ENST00000412938.1:c.*3147C>T	22.37:g.18844900C>T														0	3150	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.577	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	56	0	0	0	1	0	4	56				
HMCN1	83872	broad.mit.edu	37	1	185987381	185987381	+	Silent	SNP	A	A	G			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:185987381A>G	ENST00000271588.4	+	34	5596	c.5367A>G	c.(5365-5367)aaA>aaG	p.K1789K	HMCN1_ENST00000367492.2_Silent_p.K1789K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1789	Ig-like C2-type 15.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGACGCAAACTGGTTATTG	0.418																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(5365-5367)aaA>aaG		hemicentin 1							155.0	153.0	154.0					1																	185987381		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185987381A>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5367A>G	1.37:g.185987381A>G						HMCN1_ENST00000367492.2_Silent_p.K1789K	p.K1789K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			34	5596	+			1789			Ig-like C2-type 15.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.5367A>G	CCDS30956.1																																																																																				0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		45	98	0	0	0	1	0	45	98				
OBSCN	84033	broad.mit.edu	37	1	228529181	228529181	+	Missense_Mutation	SNP	G	G	A	rs529998585		TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:228529181G>A	ENST00000422127.1	+	74	17944	c.17900G>A	c.(17899-17901)cGc>cAc	p.R5967H	OBSCN_ENST00000366707.4_Missense_Mutation_p.R3601H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3086H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5967H|OBSCN_ENST00000570156.2_Missense_Mutation_p.R6924H	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5967	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGATGACCGCGCCTTCGAG	0.632																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(20770-20772)cGc>cAc		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							35.0	44.0	41.0					1																	228529181		2119	4219	6338	SO:0001583	missense	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228529181G>A	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17900G>A	1.37:g.228529181G>A	ENSP00000409493:p.Arg5967His					OBSCN_ENST00000284548.11_Missense_Mutation_p.R5967H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5967H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3086H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3601H	p.R6924H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			85	20845	+		Prostate(94;0.0405)	5967					Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	ENST00000422127.1	37	c.20771G>A	CCDS58065.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198769	0.79015	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709	T;T;T;T	0.11930	2.73;2.73;2.73;2.73	5.6	4.68	0.58851	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.069794	0.64402	D	0.000018	T	0.38852	0.1056	M	0.80616	2.505	0.47009	D	0.99928	D;D	0.89917	1.0;1.0	D;D	0.69307	0.92;0.963	T	0.32025	-0.9922	10	0.45353	T	0.12	.	15.8148	0.78592	0.0:0.0:0.8628:0.1372	.	5967;5967	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	H	5967;5967;3601;3086	ENSP00000284548:R5967H;ENSP00000409493:R5967H;ENSP00000355668:R3601H;ENSP00000355670:R3086H	ENSP00000284548:R5967H	R	+	2	0	OBSCN	226595804	1.000000	0.71417	0.866000	0.34008	0.127000	0.20565	6.657000	0.74402	1.352000	0.45808	0.655000	0.94253	CGC		0.632	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		9	9	0	0	0	1	0	9	9				
DTNB	1838	broad.mit.edu	37	2	25655840	25655840	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr2:25655840G>A	ENST00000406818.3	-	14	1621	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	DTNB_ENST00000407661.3_Missense_Mutation_p.R458C|DTNB_ENST00000496972.2_Missense_Mutation_p.R401C|DTNB_ENST00000405222.1_Missense_Mutation_p.R428C|DTNB_ENST00000404103.3_Missense_Mutation_p.R458C|DTNB_ENST00000545439.1_Missense_Mutation_p.R254C|DTNB_ENST00000407186.1_Missense_Mutation_p.R428C|DTNB_ENST00000407038.3_Missense_Mutation_p.R428C|DTNB_ENST00000288642.8_Missense_Mutation_p.R458C	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	458						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R458C(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTTCCAGGCGGAGACGCTGA	0.597																																						ENST00000406818.3																			1	Substitution - Missense(1)	p.R458C(1)	large_intestine(1)	endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(1372-1374)Cgc>Tgc		dystrobrevin, beta							29.0	35.0	33.0					2																	25655840		2176	4290	6466	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25655840G>A	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.1372C>T	2.37:g.25655840G>A	ENSP00000384084:p.Arg458Cys					DTNB_ENST00000545439.1_Missense_Mutation_p.R254C|DTNB_ENST00000496972.2_Missense_Mutation_p.R401C|DTNB_ENST00000407661.3_Missense_Mutation_p.R458C|DTNB_ENST00000407038.3_Missense_Mutation_p.R428C|DTNB_ENST00000407186.1_Missense_Mutation_p.R428C|DTNB_ENST00000404103.3_Missense_Mutation_p.R458C|DTNB_ENST00000405222.1_Missense_Mutation_p.R428C|DTNB_ENST00000288642.8_Missense_Mutation_p.R458C	p.R458C	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			14	1621	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		458					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.1372C>T	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.185787	0.78789	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439;ENST00000535791	T;T;T;T;T;T;T;T;T	0.52295	1.97;2.01;2.0;1.99;2.0;2.02;2.04;1.98;0.67	5.8	5.8	0.92144	.	0.094678	0.64402	D	0.000001	T	0.70369	0.3216	M	0.86028	2.79	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.83275	0.988;0.988;0.996;0.996;0.991;0.991;0.987;0.97;0.987;0.995;0.996;0.97;0.988	T	0.72981	-0.4126	10	0.52906	T	0.07	-15.2607	12.3765	0.55283	0.0:0.0:0.739:0.261	.	458;254;401;458;458;401;428;428;428;458;458;458;458	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941;Q86VR4	.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN;.	C	401;458;458;458;428;428;428;458;254;311	ENSP00000444463:R401C;ENSP00000384084:R458C;ENSP00000385482:R458C;ENSP00000385193:R458C;ENSP00000384767:R428C;ENSP00000384787:R428C;ENSP00000385784:R428C;ENSP00000288642:R458C;ENSP00000444961:R254C	ENSP00000288642:R458C	R	-	1	0	DTNB	25509344	1.000000	0.71417	0.348000	0.25681	0.989000	0.77384	3.734000	0.55037	2.735000	0.93741	0.655000	0.94253	CGC		0.597	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		8	6	0	0	0	1	0	8	6				
MAP3K8	1326	broad.mit.edu	37	10	30739244	30739244	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr10:30739244G>A	ENST00000263056.1	+	5	1258	c.562G>A	c.(562-564)Gag>Aag	p.E188K	MAP3K8_ENST00000542547.1_Missense_Mutation_p.E188K|MAP3K8_ENST00000375321.1_Missense_Mutation_p.E188K	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|protein phosphorylation (GO:0006468)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CTTCCGGCACGAGAACATCGC	0.483																																						ENST00000263056.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(562-564)Gag>Aag		mitogen-activated protein kinase kinase kinase 8							110.0	107.0	108.0					10																	30739244		2203	4300	6503	SO:0001583	missense	1326				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding	g.chr10:30739244G>A	D14497	CCDS7166.1	10p11.2	2011-06-09			ENSG00000107968	ENSG00000107968		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6860	protein-coding gene	gene with protein product		191195		COT, ESTF		2072910, 8479752	Standard	NM_005204		Approved	Tpl-2, EST, c-COT, MEKK8	uc009xlf.2	P41279	OTTHUMG00000017889	ENST00000263056.1:c.562G>A	10.37:g.30739244G>A	ENSP00000263056:p.Glu188Lys					MAP3K8_ENST00000542547.1_Missense_Mutation_p.E188K|MAP3K8_ENST00000375321.1_Missense_Mutation_p.E188K	p.E188K	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN			5	1258	+		Prostate(175;0.151)	188			Protein kinase.		A8K2Q5|D3DRX1|Q14275|Q5T855|Q9HC81	Missense_Mutation	SNP	ENST00000263056.1	37	c.562G>A	CCDS7166.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501211	0.85176	.	.	ENSG00000107968	ENST00000375328;ENST00000263056;ENST00000542547;ENST00000415139;ENST00000413724;ENST00000375321	T;T;T;T;T	0.48836	1.11;1.11;0.8;0.8;1.11	5.06	5.06	0.68205	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048589	0.85682	D	0.000000	T	0.34687	0.0906	N	0.03891	-0.335	0.80722	D	1	P	0.50369	0.934	P	0.46885	0.53	T	0.47812	-0.9088	10	0.51188	T	0.08	.	18.8016	0.92021	0.0:0.0:1.0:0.0	.	188	P41279	M3K8_HUMAN	K	188	ENSP00000263056:E188K;ENSP00000443610:E188K;ENSP00000409653:E188K;ENSP00000391275:E188K;ENSP00000364470:E188K	ENSP00000263056:E188K	E	+	1	0	MAP3K8	30779250	1.000000	0.71417	0.998000	0.56505	0.734000	0.41952	9.199000	0.95003	2.508000	0.84585	0.650000	0.86243	GAG		0.483	MAP3K8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047416.2	NM_005204		28	81	0	0	0	1	0	28	81				
BAGE2	85319	broad.mit.edu	37	21	11049595	11049595	+	RNA	SNP	A	A	G			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr21:11049595A>G	ENST00000470054.1	-	0	513							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGCTGTCGCACACTGCACAG	0.378																																						ENST00000470054.1																			0													B melanoma antigen family, member 2							84.0	65.0	71.0					21																	11049595		692	1591	2283			85319							g.chr21:11049595A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049595A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	513	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.378	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		15	205	0	0	0	1	0	15	205				
SCN2A	6326	broad.mit.edu	37	2	166165901	166165901	+	Silent	SNP	G	G	A	rs370724112	byFrequency	TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr2:166165901G>A	ENST00000375437.2	+	6	935	c.645G>A	c.(643-645)gcG>gcA	p.A215A	SCN2A_ENST00000357398.3_Intron|SCN2A_ENST00000375427.2_Intron|SCN2A_ENST00000283256.6_Silent_p.A215A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	215					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.A215A(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGTCTCAGCGTTGAGAACAT	0.438													G|||	2	0.000399361	0.0015	0.0	5008	,	,		18689	0.0		0.0	False		,,,				2504	0.0					ENST00000375437.2																			2	Substitution - coding silent(2)	p.A215A(2)	prostate(1)|lung(1)	NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(643-645)gcG>gcA		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						101.0	92.0	95.0					2																	166165901		2203	4299	6502	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166165901G>A	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.645G>A	2.37:g.166165901G>A						SCN2A_ENST00000375427.2_Intron|SCN2A_ENST00000283256.6_Silent_p.A215A|SCN2A_ENST00000357398.3_Intron	p.A215A	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			6	935	+			215					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.645G>A	CCDS33314.1																																																																																				0.438	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		12	34	0	0	0	1	0	12	34				
FUBP1	8880	broad.mit.edu	37	1	78428460	78428464	+	Frame_Shift_Del	DEL	TCTTT	TCTTT	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:78428460_78428464delTCTTT	ENST00000370768.2	-	14	1416_1420	c.1335_1339delAAAGA	c.(1333-1341)gaaaagattfs	p.EKI445fs	FUBP1_ENST00000370767.1_Frame_Shift_Del_p.EKI445fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.EKI466fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	445					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTCACACCAATCTTTTCTTCTATGA	0.332			"""F, N"""		oligodendroglioma																																	ENST00000370767.1				Rec	yes		1	1p13.1	8880	"""F, N"""	far upstream element (FUSE) binding protein 1			O			oligodendroglioma		0				central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						c.(1333-1341)gattfs		far upstream element (FUSE) binding protein 1																																				SO:0001589	frameshift_variant	8880				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	g.chr1:78428460_78428464delTCTTT	U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1335_1339delAAAGA	1.37:g.78428460_78428464delTCTTT	ENSP00000359804:p.Glu445fs					FUBP1_ENST00000370768.2_Frame_Shift_Del_p.EKI445fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.EKI466fs	p.EKI445fs			Q96AE4	FUBP1_HUMAN			14	1422_1426	-			445					Q12828	Frame_Shift_Del	DEL	ENST00000370768.2	37	c.1335_1339delAAAGA	CCDS683.1																																																																																				0.332	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		24	20						24	20	---	---	---	---
VEPH1	79674	broad.mit.edu	37	3	157081226	157081227	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr3:157081226_157081227insT	ENST00000362010.2	-	9	1968_1969	c.1661_1662insA	c.(1660-1662)aacfs	p.N554fs	VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.N554fs|VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.N554fs|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.N554fs	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	554						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTTTGCTGAGGTTTTTTTTTAA	0.396																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1660-1662)actfs		ventricular zone expressed PH domain-containing 1																																				SO:0001589	frameshift_variant	79674					plasma membrane		g.chr3:157081226_157081227insT	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1662dupA	3.37:g.157081235_157081235dupT	ENSP00000354919:p.Asn554fs					VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.T554fs|VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.T554fs|RP11-550I24.2_ENST00000487238.1_RNA	p.T554fs	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		9	1968_1969	-			554					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Frame_Shift_Ins	INS	ENST00000362010.2	37	c.1661_1662insA	CCDS3179.1																																																																																				0.396	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		7	265						7	265	---	---	---	---
PIK3CA	5290	broad.mit.edu	37	3	178928078	178928080	+	In_Frame_Del	DEL	AGA	AGA	-	rs397517200		TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr3:178928078_178928080delAGA	ENST00000263967.3	+	8	1513_1515	c.1356_1358delAGA	c.(1354-1359)ttagaa>tta	p.E453del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> Q (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).|Missing (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CTCATGGATTAGAAGATTTGCTG	0.35		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		20	Substitution - Missense(17)|Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)	endometrium(9)|breast(6)|lung(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1354-1359)tta>tt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha																																				SO:0001651	inframe_deletion	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928078_178928080delAGA		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1356_1358delAGA	3.37:g.178928081_178928083delAGA	ENSP00000263967:p.Glu453del	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.LE452del	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		8	1513_1515	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		452			C2 PI3K-type.		Q14CW1|Q99762	In_Frame_Del	DEL	ENST00000263967.3	37	c.1356_1358delAGA	CCDS43171.1																																																																																				0.350	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			43	92						43	92	---	---	---	---
PPEF2	5470	broad.mit.edu	37	4	76809380	76809382	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr4:76809380_76809382delCTC	ENST00000286719.7	-	6	873_875	c.517_519delGAG	c.(517-519)gagdel	p.E173del		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	173	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACACTGTGATCTCCTCACTGTAA	0.507																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(517-519)del		protein phosphatase, EF-hand calcium binding domain 2																																				SO:0001651	inframe_deletion	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76809380_76809382delCTC	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.517_519delGAG	4.37:g.76809383_76809385delCTC	ENSP00000286719:p.Glu173del						p.E173del	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		6	873_875	-			173			Catalytic.		O14831	In_Frame_Del	DEL	ENST00000286719.7	37	c.517_519delGAG	CCDS34013.1																																																																																				0.507	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		15	108						15	108	---	---	---	---
MPDZ	8777	broad.mit.edu	37	9	13216804	13216804	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr9:13216804delC	ENST00000319217.7	-	10	1506	c.1259delG	c.(1258-1260)ggafs	p.G420fs	MPDZ_ENST00000381022.2_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000447879.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000546205.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000536827.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000541718.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000381015.4_Frame_Shift_Del_p.G420fs	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	420	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTGGATTCTTCCATCATGCTC	0.313																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(1258-1260)gafs		multiple PDZ domain protein							160.0	145.0	150.0					9																	13216804		1829	4083	5912	SO:0001589	frameshift_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13216804delC	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1259delG	9.37:g.13216804delC	ENSP00000320006:p.Gly420fs					MPDZ_ENST00000546205.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000381022.2_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000541718.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000536827.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000447879.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000381015.4_Frame_Shift_Del_p.G420fs	p.G420fs	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	10	1506	-			420			PDZ 3.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Frame_Shift_Del	DEL	ENST00000319217.7	37	c.1259delG																																																																																					0.313	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		14	23						14	23	---	---	---	---
DNAI1	27019	broad.mit.edu	37	9	34514457	34514458	+	Frame_Shift_Del	DEL	TG	TG	-	rs547737876		TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr9:34514457_34514458delTG	ENST00000242317.4	+	17	1806_1807	c.1635_1636delTG	c.(1633-1638)actgtgfs	p.V546fs		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	546					cell projection organization (GO:0030030)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	motor activity (GO:0003774)			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CAGTGGACACTGTGTCCTGGAA	0.559									Kartagener syndrome																													ENST00000242317.4																			0				autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34						c.(1633-1638)actgfs		dynein, axonemal, intermediate chain 1																																				SO:0001589	frameshift_variant	27019	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity	g.chr9:34514457_34514458delTG	AF091619	CCDS6557.1, CCDS75829.1	9p13.3	2013-02-19	2006-09-04		ENSG00000122735	ENSG00000122735		"""Axonemal dyneins"", ""WD repeat domain containing"""	2954	protein-coding gene	gene with protein product		604366	"""dynein, axonemal, intermediate polypeptide 1"""			10577904, 21953912	Standard	NM_012144		Approved	DIC1, PCD, CILD1	uc003zum.3	Q9UI46	OTTHUMG00000019825	ENST00000242317.4:c.1635_1636delTG	9.37:g.34514459_34514460delTG	ENSP00000242317:p.Val546fs						p.TV545fs	NM_012144.2	NP_036276.1	Q9UI46	DNAI1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)	17	1806_1807	+	all_epithelial(49;0.244)		545					B7Z7U1|Q5T8G7|Q8NHQ7|Q9UEZ8	Frame_Shift_Del	DEL	ENST00000242317.4	37	c.1635_1636delTG	CCDS6557.1																																																																																				0.559	DNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052192.1			43	80						43	80	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		4	Deletion - In frame(4)	p.F357delF(4)	upper_aerodigestive_tract(2)|central_nervous_system(2)	breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(1069-1074)tac>t		notch 1																																				SO:0001651	inframe_deletion	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413070_139413072delAGA	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1070_1072delTCT	9.37:g.139413070_139413072delAGA	ENSP00000277541:p.Phe357del	HNSCC(8;0.001)					p.FY357del	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	1145_1147	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	357			EGF-like 9; calcium-binding (Potential).		Q59ED8|Q5SXM3	In_Frame_Del	DEL	ENST00000277541.6	37	c.1070_1072delTCT	CCDS43905.1																																																																																				0.655	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		20	15						20	15	---	---	---	---
CREBZF	58487	broad.mit.edu	37	11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226	Basic motif. {ECO:0000250}.|bZIP.				negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(172;674 2044 9050 18334 41735)	ENST00000527447.1																			1	Deletion - In frame(1)	p.K226delK(1)	large_intestine(1)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(676-678)del		CREB/ATF bZIP transcription factor				5,3619		2,1,1809						4.9	1.0			62	8,7784		3,2,3891	no	coding	CREBZF	NM_001039618.2		5,3,5700	A1A1,A1R,RR		0.1027,0.138,0.1139				13,11403				SO:0001651	inframe_deletion	58487				negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:85375242_85375244delCTT	AF039942	CCDS41697.1	11q14.1	2013-01-10			ENSG00000137504	ENSG00000137504		"""basic leucine zipper proteins"""	24905	protein-coding gene	gene with protein product	"""Zhangfei"""	606444				10871379	Standard	NM_001039618		Approved	ZF	uc001pas.2	Q9NS37	OTTHUMG00000133648	ENST00000527447.1:c.676_678delAAG	11.37:g.85375248_85375250delCTT	ENSP00000433459:p.Lys226del		OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1236	CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	p.K226del	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN			1	902_904	-		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)	226					B2R8Q9|Q0P5U9|Q52LT3	In_Frame_Del	DEL	ENST00000527447.1	37	c.676_678delAAG	CCDS41697.1																																																																																				0.665	CREBZF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390191.2	NM_001039618		45	136						45	136	---	---	---	---
USP5	8078	broad.mit.edu	37	12	6970648	6970650	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:6970648_6970650delGAG	ENST00000229268.8	+	13	1592_1594	c.1540_1542delGAG	c.(1540-1542)gagdel	p.E515del	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_In_Frame_Del_p.E515del	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	515	USP.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GCAAGCCGAAGAGGAGAAGATGG	0.596																																						ENST00000229268.8																			0				breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						c.(1540-1542)del		ubiquitin specific peptidase 5 (isopeptidase T)																																				SO:0001651	inframe_deletion	0				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6970648_6970650delGAG	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.1540_1542delGAG	12.37:g.6970651_6970653delGAG	ENSP00000229268:p.Glu515del					USP5_ENST00000389231.5_In_Frame_Del_p.E515del|USP5_ENST00000541969.1_3'UTR	p.E515del	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN			13	1592_1594	+			515					D3DUS7|D3DUS8|Q96J22	In_Frame_Del	DEL	ENST00000229268.8	37	c.1540_1542delGAG	CCDS41743.1																																																																																				0.596	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			23	62						23	62	---	---	---	---
DERA	51071	broad.mit.edu	37	12	16185574	16185574	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:16185574delA	ENST00000428559.2	+	7	948	c.736delA	c.(736-738)aaafs	p.K246fs	DERA_ENST00000532573.1_3'UTR|DERA_ENST00000526530.1_Frame_Shift_Del_p.K158fs|DERA_ENST00000532964.1_Frame_Shift_Del_p.K203fs	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	246					deoxyribonucleoside catabolic process (GO:0046121)|deoxyribonucleotide catabolic process (GO:0009264)|deoxyribose phosphate catabolic process (GO:0046386)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	deoxyribose-phosphate aldolase activity (GO:0004139)			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				TTTCTTCTGGAAAACTGGAAA	0.348																																						ENST00000428559.2																			0				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7						c.(736-738)aafs		deoxyribose-phosphate aldolase (putative)							41.0	36.0	38.0					12																	16185574		1791	4050	5841	SO:0001589	frameshift_variant	51071				deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding	g.chr12:16185574delA	AF132960	CCDS44838.1, CCDS73451.1	12p12.3	2010-06-24	2010-06-24		ENSG00000023697	ENSG00000023697	4.1.2.4		24269	protein-coding gene	gene with protein product			"""2-deoxyribose-5-phosphate aldolase homolog (C. elegans)"""			12546782	Standard	XM_006719083		Approved	CGI-26, DEOC	uc001rde.3	Q9Y315	OTTHUMG00000165537	ENST00000428559.2:c.736delA	12.37:g.16185574delA	ENSP00000416583:p.Lys246fs					DERA_ENST00000526530.1_Frame_Shift_Del_p.K158fs|DERA_ENST00000532964.1_Frame_Shift_Del_p.K203fs|DERA_ENST00000532573.1_3'UTR	p.K246fs	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN			7	948	+		Hepatocellular(102;0.121)	246					Q53HN9|Q6PHW2	Frame_Shift_Del	DEL	ENST00000428559.2	37	c.736delA	CCDS44838.1																																																																																				0.348	DERA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384731.1	NM_015954		2	4						2	4	---	---	---	---
NACA	4666	broad.mit.edu	37	12	57110851	57110853	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:57110851_57110853delGAA	ENST00000454682.1	-	3	4742_4744	c.4461_4463delTTC	c.(4459-4464)tcttcc>tcc	p.1487_1488SS>S	NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1487	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTGGGAGAGGAAGAAGTGGCAA	0.631			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(4459-4464)tcc>tc		nascent polypeptide-associated complex alpha subunit																																				SO:0001651	inframe_deletion	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57110851_57110853delGAA	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.4461_4463delTTC	12.37:g.57110854_57110856delGAA	ENSP00000403817:p.Ser1489del					NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron	p.SS1487del	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			3	4742_4744	-			0						In_Frame_Del	DEL	ENST00000454682.1	37	c.4461_4463delTTC																																																																																					0.631	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		13	35						13	35	---	---	---	---
LCP1	3936	broad.mit.edu	37	13	46721233	46721235	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr13:46721233_46721235delCTT	ENST00000398576.2	-	13	1370_1372	c.982_984delAAG	c.(982-984)aagdel	p.K328del	LCP1_ENST00000323076.2_In_Frame_Del_p.K328del			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	328	Actin-binding 1.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|organ regeneration (GO:0031100)|protein kinase A signaling (GO:0010737)|regulation of intracellular protein transport (GO:0033157)|T cell activation involved in immune response (GO:0002286)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGATGTCATCCTTCTCCTGCAAT	0.522			T	BCL6	NHL																																	ENST00000398576.2				Dom	yes		13	13q14.1-q14.3	3936	T	lymphocyte cytosolic protein 1 (L-plastin)			L	BCL6		NHL		0				breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34						c.(982-984)del		lymphocyte cytosolic protein 1 (L-plastin)																																				SO:0001651	inframe_deletion	3936				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding	g.chr13:46721233_46721235delCTT	M22300	CCDS9403.1	13q14.3	2013-01-10			ENSG00000136167	ENSG00000136167		"""EF-hand domain containing"""	6528	protein-coding gene	gene with protein product	"""plastin 2"""	153430				2111166	Standard	NM_002298		Approved	PLS2, CP64, L-PLASTIN, LC64P	uc001vba.4	P13796	OTTHUMG00000016864	ENST00000398576.2:c.982_984delAAG	13.37:g.46721233_46721235delCTT	ENSP00000381581:p.Lys328del					LCP1_ENST00000323076.2_In_Frame_Del_p.K328del	p.K328del			P13796	PLSL_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)	13	1370_1372	-		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	328			Actin-binding 1.|CH 2.		B2R613|B4DUA0|Q5TBN4	In_Frame_Del	DEL	ENST00000398576.2	37	c.982_984delAAG	CCDS9403.1																																																																																				0.522	LCP1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044800.3	NM_002298		12	19						12	19	---	---	---	---
FHOD1	29109	broad.mit.edu	37	16	67265220	67265222	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr16:67265220_67265222delCTT	ENST00000258201.4	-	17	2783_2785	c.2536_2538delAAG	c.(2536-2538)aagdel	p.K846del		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	846	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCTCTGACACCTTCTCCAGGTAG	0.586																																						ENST00000258201.4																			0				breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						c.(2536-2538)del		formin homology 2 domain containing 1																																				SO:0001651	inframe_deletion	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67265220_67265222delCTT	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.2536_2538delAAG	16.37:g.67265220_67265222delCTT	ENSP00000258201:p.Lys846del					FHOD1_ENST00000567687.1_In_Frame_Del_p.K425del	p.K846del	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	17	2783_2785	-		Ovarian(137;0.0563)	846			FH2.		Q59F76|Q6Y1F2|Q76MS8|Q8N521	In_Frame_Del	DEL	ENST00000258201.4	37	c.2536_2538delAAG	CCDS10834.1																																																																																				0.586	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			19	28						19	28	---	---	---	---
