#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
RPAP3	79657	broad.mit.edu	37	12	48063934	48063934	+	Silent	SNP	T	T	C			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr12:48063934T>C	ENST00000005386.3	-	13	1597	c.1482A>G	c.(1480-1482)gcA>gcG	p.A494A	RPAP3_ENST00000432584.3_Silent_p.A335A|RPAP3_ENST00000380650.4_Silent_p.A460A	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	494										endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TCAATACTTTTGCTCTTGGAG	0.383																																						ENST00000005386.3																			0				endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1480-1482)gcA>gcG		RNA polymerase II associated protein 3							180.0	170.0	173.0					12																	48063934		2203	4300	6503	SO:0001819	synonymous_variant	79657						binding	g.chr12:48063934T>C	AK025561	CCDS8753.1, CCDS53782.1, CCDS53783.1	12q13.11	2013-01-10				ENSG00000005175		"""Tetratricopeptide (TTC) repeat domain containing"""	26151	protein-coding gene	gene with protein product		611477				17643375	Standard	NM_024604		Approved	FLJ21908, spag	uc001rpr.3	Q9H6T3	OTTHUMG00000169668	ENST00000005386.3:c.1482A>G	12.37:g.48063934T>C						RPAP3_ENST00000380650.4_Silent_p.A460A|RPAP3_ENST00000432584.3_Silent_p.A335A	p.A494A	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN			13	1597	-	Lung SC(27;0.192)		494					B4DRW9|Q6PHR5	Silent	SNP	ENST00000005386.3	37	c.1482A>G	CCDS8753.1																																																																																				0.383	RPAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405340.1	NM_024604		35	77	0	0	0	1	0	35	77				
SON	6651	broad.mit.edu	37	21	34923110	34923110	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr21:34923110C>T	ENST00000356577.4	+	3	2048	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	SON_ENST00000290239.6_Missense_Mutation_p.P525S|SON_ENST00000300278.4_Missense_Mutation_p.P525S|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.P525S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	525					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGTGGAACATCCTGGGCATCC	0.597																																						ENST00000356577.4																			0				breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(1573-1575)Cct>Tct		SON DNA binding protein							133.0	137.0	135.0					21																	34923110		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34923110C>T	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.1573C>T	21.37:g.34923110C>T	ENSP00000348984:p.Pro525Ser					SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.P525S|SON_ENST00000290239.6_Missense_Mutation_p.P525S|SON_ENST00000300278.4_Missense_Mutation_p.P525S	p.P525S	NM_138927.1	NP_620305.1	P18583	SON_HUMAN			3	2048	+			525					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.1573C>T	CCDS13629.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.339067	0.41398	.	.	ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679	T;T;T;T	0.25414	1.92;1.88;1.88;1.8	4.74	4.74	0.60224	.	0.000000	0.56097	D	0.000024	T	0.36110	0.0955	L	0.27053	0.805	0.29128	N	0.879826	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.08889	-1.0700	10	0.40728	T	0.16	.	13.3916	0.60827	0.0:1.0:0.0:0.0	.	525;525;525	P18583;P18583-3;P18583-6	SON_HUMAN;.;.	S	525	ENSP00000348984:P525S;ENSP00000290239:P525S;ENSP00000300278:P525S;ENSP00000371095:P525S	ENSP00000290239:P525S	P	+	1	0	SON	33844980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.391000	0.59652	2.614000	0.88457	0.491000	0.48974	CCT		0.597	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927		49	98	0	0	0	1	0	49	98				
FAM27L	284123	broad.mit.edu	37	17	21825473	21825473	+	lincRNA	SNP	C	C	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:21825473C>A	ENST00000426869.3	+	0	177					NR_028336.1		Q8N5T8	FA27L_HUMAN	family with sequence similarity 27-like											central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)		cgtctccggacgccaggacct	0.652																																						ENST00000426869.3																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)	14								family with sequence similarity 27-like							45.0	52.0	50.0					17																	21825473		1964	4149	6113			284123							g.chr17:21825473C>A	BC031617		17p11.2	2014-01-28				ENSG00000178130			32410	protein-coding gene	gene with protein product							Standard	NR_028336		Approved	MGC35151	uc002gyz.4	Q8N5T8			17.37:g.21825473C>A								NR_028336.1					UCEC - Uterine corpus endometrioid carcinoma (53;0.11)|BRCA - Breast invasive adenocarcinoma(1;0.00463)	0	177	+									RNA	SNP	ENST00000426869.3	37																																																																																						0.652	FAM27L-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389059.2	NM_203392		20	26	1	0	2.4624e-09	1	2.70263e-09	20	26				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr16:90162513T>C	ENST00000564451.1	+	0	1866				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537																																						ENST00000564451.1																			2	Substitution - coding silent(2)	p.N415N(2)	prostate(1)|kidney(1)																																																0							g.chr16:90162513T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162513T>C						TUBB8P7_ENST00000567960.1_RNA								0	1866	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		5	119	0	0	0	1	0	5	119				
NCR3	259197	broad.mit.edu	37	6	31556919	31556919	+	Silent	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr6:31556919C>T	ENST00000340027.5	-	4	794	c.531G>A	c.(529-531)ccG>ccA	p.P177P	NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376073.4_3'UTR	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	177					cell recognition (GO:0008037)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	integral component of plasma membrane (GO:0005887)				cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GGACCACAGCCGGCAGCTGCC	0.582																																						ENST00000340027.5																			0				cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						c.(529-531)ccG>ccA		natural cytotoxicity triggering receptor 3							36.0	37.0	36.0					6																	31556919		2203	4300	6503	SO:0001819	synonymous_variant	259197				cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity	g.chr6:31556919C>T	AB055881	CCDS34397.1, CCDS47401.1, CCDS47402.1	6p21.3	2013-01-11	2002-11-13	2002-11-15	ENSG00000204475	ENSG00000204475		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19077	protein-coding gene	gene with protein product		611550	"""lymphocyte antigen 117"""	LY117		8824804, 11782277	Standard	NM_001145466		Approved	1C7, NKp30, CD337	uc003nuv.2	O14931	OTTHUMG00000031123	ENST00000340027.5:c.531G>A	6.37:g.31556919C>T						NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376073.4_3'UTR	p.P177P	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN			4	794	-			177					B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3	Silent	SNP	ENST00000340027.5	37	c.531G>A	CCDS34397.1																																																																																				0.582	NCR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076210.2			4	8	0	0	0	1	0	4	8				
ZNFX1	57169	broad.mit.edu	37	20	47870232	47870232	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr20:47870232G>A	ENST00000396105.1	-	11	3322	c.3076C>T	c.(3076-3078)Cac>Tac	p.H1026Y	ZNFX1_ENST00000371752.1_Missense_Mutation_p.H1026Y|ZNFX1_ENST00000371754.4_Missense_Mutation_p.H1026Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1026							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAAATGAGGTGCTGGCAAGCT	0.542																																						ENST00000396105.1																			0				cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60						c.(3076-3078)Cac>Tac		zinc finger, NFX1-type containing 1							176.0	156.0	163.0					20																	47870232		2203	4300	6503	SO:0001583	missense	57169						metal ion binding	g.chr20:47870232G>A	AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.3076C>T	20.37:g.47870232G>A	ENSP00000379412:p.His1026Tyr					ZNFX1_ENST00000371754.4_Missense_Mutation_p.H1026Y|ZNFX1_ENST00000371752.1_Missense_Mutation_p.H1026Y	p.H1026Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		11	3322	-			1026					Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	ENST00000396105.1	37	c.3076C>T	CCDS13417.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189574	0.94923	.	.	ENSG00000124201	ENST00000371754;ENST00000371752;ENST00000396105	D;D;D	0.82619	-1.63;-1.63;-1.63	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	D	0.93514	0.7930	M	0.92317	3.295	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94026	0.7297	10	0.62326	D	0.03	-24.9338	18.9229	0.92532	0.0:0.0:1.0:0.0	.	1026	Q9P2E3	ZNFX1_HUMAN	Y	1026	ENSP00000360819:H1026Y;ENSP00000360817:H1026Y;ENSP00000379412:H1026Y	ENSP00000360817:H1026Y	H	-	1	0	ZNFX1	47303639	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.736000	0.98828	2.816000	0.96949	0.561000	0.74099	CAC		0.542	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079647.2	NM_021035		44	94	0	0	0	1	0	44	94				
STAR	6770	broad.mit.edu	37	8	38006211	38006211	+	Silent	SNP	G	G	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr8:38006211G>A	ENST00000276449.4	-	2	572	c.126C>T	c.(124-126)ggC>ggT	p.G42G	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	42					bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)	p.T44fs*3(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TAGGGGTGGGGCCCCCCAGGG	0.627																																						ENST00000276449.4																			1	Insertion - Frameshift(1)	p.T44fs*3(1)	large_intestine(1)	breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	GRCh37	CI972707	STAR	I		c.(124-126)ggC>ggT		steroidogenic acute regulatory protein							40.0	46.0	44.0					8																	38006211		2203	4300	6503	SO:0001819	synonymous_variant	6770				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	g.chr8:38006211G>A	BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.126C>T	8.37:g.38006211G>A							p.G42G	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN		READ - Rectum adenocarcinoma(644;0.188)	2	572	-	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)	42					Q16396	Silent	SNP	ENST00000276449.4	37	c.126C>T	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	G	6.136	0.393364	0.11638	.	.	ENSG00000147465	ENST00000522050	.	.	.	5.28	1.28	0.21552	.	.	.	.	.	T	0.43478	0.1249	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22871	-1.0204	4	.	.	.	-11.3131	2.5252	0.04689	0.2124:0.1272:0.5293:0.131	.	.	.	.	V	21	.	.	A	-	2	0	STAR	38125368	0.830000	0.29337	0.882000	0.34594	0.372000	0.29890	0.100000	0.15231	0.275000	0.22094	0.462000	0.41574	GCC		0.627	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349		18	44	0	0	0	1	0	18	44				
PTPRM	5797	broad.mit.edu	37	18	8394606	8394606	+	Silent	SNP	C	C	G			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr18:8394606C>G	ENST00000332175.8	+	30	5339	c.4302C>G	c.(4300-4302)ctC>ctG	p.L1434L	PTPRM_ENST00000580170.1_Silent_p.L1447L|PTPRM_ENST00000400053.4_Silent_p.L1372L|PTPRM_ENST00000444013.1_Silent_p.L1221L|PTPRM_ENST00000400060.4_Silent_p.L1448L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1434	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGGTCGACCTCCTGGTAGGAC	0.527																																						ENST00000332175.8																			0				breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90						c.(4300-4302)ctC>ctG		protein tyrosine phosphatase, receptor type, M							83.0	66.0	72.0					18																	8394606		2203	4300	6503	SO:0001819	synonymous_variant	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:8394606C>G	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.4302C>G	18.37:g.8394606C>G						PTPRM_ENST00000444013.1_Silent_p.L1221L|PTPRM_ENST00000400053.4_Silent_p.L1372L|PTPRM_ENST00000400060.4_Silent_p.L1448L|PTPRM_ENST00000580170.1_Silent_p.L1447L	p.L1434L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN			30	5339	+		Colorectal(10;0.234)	1434			Tyrosine-protein phosphatase 2.		A7MBN1|D3DUH8|J3QL11	Silent	SNP	ENST00000332175.8	37	c.4302C>G	CCDS11840.1																																																																																				0.527	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			8	22	0	0	0	1	0	8	22				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000564451.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																0							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000567960.1_RNA								0	1279	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	38	0	0	0	1	0	6	38				
POLQ	10721	broad.mit.edu	37	3	121154999	121154999	+	Silent	SNP	G	G	T	rs147692745	byFrequency	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr3:121154999G>T	ENST00000264233.5	-	28	7641	c.7513C>A	c.(7513-7515)Cga>Aga	p.R2505R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2505					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATACCCTCTCGATGACCATGG	0.403								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	ENST00000264233.5																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(7513-7515)Cga>Aga	DNA polymerases (catalytic subunits)	polymerase (DNA directed), theta							222.0	198.0	206.0					3																	121154999		2203	4300	6503	SO:0001819	synonymous_variant	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121154999G>T	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.7513C>A	3.37:g.121154999G>T							p.R2505R	NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	28	7641	-			2505					O95160|Q6VMB5	Silent	SNP	ENST00000264233.5	37	c.7513C>A	CCDS33833.1																																																																																				0.403	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420		19	59	1	0	1.01871e-10	1	1.17544e-10	19	59				
SPTBN2	6712	broad.mit.edu	37	11	66455772	66455772	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr11:66455772C>T	ENST00000533211.1	-	32	6573	c.6242G>A	c.(6241-6243)cGg>cAg	p.R2081Q	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2081Q|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2081Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2081					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						ctccttctcccgctccTCTAG	0.567																																						ENST00000533211.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						c.(6241-6243)cGg>cAg		spectrin, beta, non-erythrocytic 2							17.0	17.0	17.0					11																	66455772		2197	4291	6488	SO:0001583	missense	6712				actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton	g.chr11:66455772C>T	AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.6242G>A	11.37:g.66455772C>T	ENSP00000432568:p.Arg2081Gln					SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2081Q|SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2081Q	p.R2081Q			O15020	SPTN2_HUMAN			32	6573	-			2081					O14872|O14873	Missense_Mutation	SNP	ENST00000533211.1	37	c.6242G>A	CCDS8150.1	.	.	.	.	.	.	.	.	.	.	C	13.65	2.299526	0.40694	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997;ENST00000443262	T;T;T	0.70869	-0.52;-0.52;-0.52	5.52	3.29	0.37713	.	0.370798	0.27807	N	0.017771	T	0.46464	0.1394	N	0.17631	0.505	0.30554	N	0.765175	B	0.14012	0.009	B	0.11329	0.006	T	0.24476	-1.0159	10	0.22706	T	0.39	.	1.3118	0.02099	0.3457:0.2658:0.0:0.3885	.	2081	O15020	SPTN2_HUMAN	Q	2081;2081;2081;625	ENSP00000432568:R2081Q;ENSP00000311489:R2081Q;ENSP00000433593:R2081Q	ENSP00000311489:R2081Q	R	-	2	0	SPTBN2	66212348	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.025000	0.30090	1.246000	0.43901	0.655000	0.94253	CGG		0.567	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393892.2	NM_006946		5	8	0	0	0	1	0	5	8				
ROR2	4920	broad.mit.edu	37	9	94486078	94486078	+	Missense_Mutation	SNP	C	C	T	rs202213533	byFrequency	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr9:94486078C>T	ENST00000375708.3	-	9	2896	c.2698G>A	c.(2698-2700)Gcc>Acc	p.A900T	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	900					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTTCTGGGGCGTTCTGTGTG	0.632													C|||	2	0.000399361	0.0	0.0029	5008	,	,		18796	0.0		0.0	False		,,,				2504	0.0					ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2698-2700)Gcc>Acc		receptor tyrosine kinase-like orphan receptor 2		C	THR/ALA	0,4406		0,0,2203	93.0	93.0	93.0		2698	-2.5	0.0	9		93	2,8598	2.2+/-6.3	0,2,4298	yes	missense	ROR2	NM_004560.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	900/944	94486078	2,13004	2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486078C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2698G>A	9.37:g.94486078C>T	ENSP00000364860:p.Ala900Thr					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	p.A900T	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2896	-			900					Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2698G>A	CCDS6691.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	0.007	-1.944420	0.00479	0.0	2.33E-4	ENSG00000169071	ENST00000375708	T	0.76839	-1.05	4.75	-2.54	0.06307	.	2.189110	0.02565	N	0.097137	T	0.55497	0.1924	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.50466	-0.8825	10	0.08179	T	0.78	.	8.3872	0.32508	0.0:0.2696:0.1137:0.6167	.	900	Q01974	ROR2_HUMAN	T	900	ENSP00000364860:A900T	ENSP00000364860:A900T	A	-	1	0	ROR2	93525899	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.281000	0.08456	-0.336000	0.08438	-0.254000	0.11334	GCC		0.632	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			40	82	0	0	0	1	0	40	82				
PTEN	5728	broad.mit.edu	37	10	89692911	89692911	+	Missense_Mutation	SNP	G	G	A	rs121909241		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr10:89692911G>A	ENST00000371953.3	+	5	1752	c.395G>A	c.(394-396)gGt>gAt	p.G132D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	132	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome). {ECO:0000269|PubMed:16752378}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132D(4)|p.Y27fs*1(2)|p.G132V(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACGAACTGGTGTAATGATA	0.398		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												ENST00000371953.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		59	Whole gene deletion(37)|Deletion - Frameshift(11)|Substitution - Missense(5)|Unknown(5)|Deletion - In frame(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132D(4)|p.Y27fs*1(2)|p.G132V(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1)	prostate(16)|central_nervous_system(14)|skin(6)|endometrium(5)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(4)|breast(3)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CM045431|CM063078|CM074468	PTEN	M	rs121909241	c.(394-396)gGt>gAt		phosphatase and tensin homolog							137.0	127.0	130.0					10																	89692911		2203	4300	6503	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692911G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.395G>A	10.37:g.89692911G>A	ENSP00000361021:p.Gly132Asp	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.G132D	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1752	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	132		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.395G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	31	5.103845	0.94245	.	.	ENSG00000171862	ENST00000371953	D	0.99563	-6.17	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96473	0.9350	9	.	.	.	-10.5526	18.7776	0.91918	0.0:0.0:1.0:0.0	.	132	P60484	PTEN_HUMAN	D	132	ENSP00000361021:G132D	.	G	+	2	0	PTEN	89682891	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GGT		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		33	42	0	0	0	1	0	33	42				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	0							g.chr20:29628263A>G			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	118	0	0	0	1	0	7	118				
NPAS3	64067	broad.mit.edu	37	14	34243682	34243682	+	Missense_Mutation	SNP	A	A	C			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr14:34243682A>C	ENST00000356141.4	+	8	992	c.992A>C	c.(991-993)cAt>cCt	p.H331P	NPAS3_ENST00000551492.1_Missense_Mutation_p.H336P|NPAS3_ENST00000346562.2_Missense_Mutation_p.H299P|NPAS3_ENST00000548645.1_Missense_Mutation_p.H301P|NPAS3_ENST00000357798.5_Missense_Mutation_p.H318P			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	331	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ATTGACTGCCATATGTTCGTC	0.468																																						ENST00000346562.2																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(895-897)cAt>cCt		neuronal PAS domain protein 3							185.0	155.0	165.0					14																	34243682		2203	4300	6503	SO:0001583	missense	64067				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	g.chr14:34243682A>C	AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.992A>C	14.37:g.34243682A>C	ENSP00000348460:p.His331Pro					NPAS3_ENST00000356141.4_Missense_Mutation_p.H331P|NPAS3_ENST00000551492.1_Missense_Mutation_p.H336P|NPAS3_ENST00000548645.1_Missense_Mutation_p.H301P|NPAS3_ENST00000357798.5_Missense_Mutation_p.H318P	p.H299P	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)	7	970	+	Breast(36;0.0102)|Hepatocellular(127;0.133)		331					Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	ENST00000356141.4	37	c.896A>C	CCDS53891.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.39|16.39	3.109291|3.109291	0.56398|0.56398	.|.	.|.	ENSG00000151322|ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798|ENST00000552874	T;T;T;T;T;T|.	0.29142|.	1.58;1.58;1.58;1.58;1.58;1.58|.	5.93|5.93	5.93|5.93	0.95920|0.95920	PAS (1);|.	0.054129|.	0.85682|.	D|.	0.000000|.	T|T	0.55081|0.55081	0.1898|0.1898	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	B;B;B;B|.	0.24882|.	0.113;0.069;0.113;0.113|.	B;B;B;B|.	0.30251|.	0.113;0.053;0.113;0.113|.	T|T	0.51395|0.51395	-0.8711|-0.8711	10|5	0.56958|.	D|.	0.05|.	.|.	16.3943|16.3943	0.83563|0.83563	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	301;331;299;318|.	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3|.	.;NPAS3_HUMAN;.;.|.	P|L	308;336;299;301;331;318|78	ENSP00000448373:H308P;ENSP00000450392:H336P;ENSP00000319610:H299P;ENSP00000448916:H301P;ENSP00000348460:H331P;ENSP00000350446:H318P|.	ENSP00000319610:H299P|.	H|I	+|+	2|1	0|0	NPAS3|NPAS3	33313433|33313433	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.307000|9.307000	0.96226|0.96226	2.281000|2.281000	0.76405|0.76405	0.533000|0.533000	0.62120|0.62120	CAT|ATA		0.468	NPAS3-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276645.1			37	63	0	0	0	1	0	37	63				
CFH	3075	broad.mit.edu	37	1	196654268	196654268	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr1:196654268G>A	ENST00000359637.2	+	6	735	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	CFH_ENST00000439155.2_Missense_Mutation_p.E289K|CFH_ENST00000367429.4_Missense_Mutation_p.E289K			P08603	CFAH_HUMAN	complement factor H	289	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AACTGGAGATGAAATCACGTA	0.388																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(865-867)Gaa>Aaa		complement factor H							122.0	112.0	116.0					1																	196654268		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196654268G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.673G>A	1.37:g.196654268G>A	ENSP00000352658:p.Glu225Lys					CFH_ENST00000439155.2_Missense_Mutation_p.E289K|CFH_ENST00000359637.2_Missense_Mutation_p.E225K	p.E289K	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			7	1105	+			289			Sushi 5.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.865G>A		.	.	.	.	.	.	.	.	.	.	G	11.02	1.517476	0.27123	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.62364	0.03;0.03;0.03	5.11	0.415	0.16411	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.56396	0.1982	L	0.37561	1.115	0.24263	N	0.995278	P;B;B;B	0.45283	0.855;0.167;0.356;0.082	P;B;B;B	0.56216	0.794;0.065;0.102;0.065	T	0.47142	-0.9140	9	0.09338	T	0.73	.	4.4382	0.11561	0.2462:0.0:0.599:0.1548	.	225;289;289;289	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	K	289;289;289;225	ENSP00000356399:E289K;ENSP00000402656:E289K;ENSP00000352658:E225K	ENSP00000352658:E225K	E	+	1	0	CFH	194920891	0.000000	0.05858	0.443000	0.26883	0.444000	0.32077	-0.541000	0.06099	-0.170000	0.10816	0.585000	0.79938	GAA		0.388	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		63	106	0	0	0	1	0	63	106				
MUC17	140453	broad.mit.edu	37	7	100681981	100681981	+	Silent	SNP	C	C	G			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:100681981C>G	ENST00000306151.4	+	3	7348	c.7284C>G	c.(7282-7284)gtC>gtG	p.V2428V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2428	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCACACCTGTCACCACTTCTA	0.522																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7282-7284)gtC>gtG		mucin 17, cell surface associated							362.0	354.0	357.0					7																	100681981		2203	4300	6503	SO:0001819	synonymous_variant	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681981C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7284C>G	7.37:g.100681981C>G							p.V2428V	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	7348	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2428			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Silent	SNP	ENST00000306151.4	37	c.7284C>G	CCDS34711.1																																																																																				0.522	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		7	576	0	0	0	1	0	7	576				
XPNPEP1	7511	broad.mit.edu	37	10	111637761	111637761	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr10:111637761C>T	ENST00000502935.1	-	13	1357	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	XPNPEP1_ENST00000369680.4_Missense_Mutation_p.R370H|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.R413H|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.R299H					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.R370H(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCCTTACCTGCGAAACTCCTC	0.463																																						ENST00000369680.4																			1	Substitution - Missense(1)	p.R370H(1)	large_intestine(1)	endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31						c.(1108-1110)cGc>cAc		X-prolyl aminopeptidase (aminopeptidase P) 1, soluble							100.0	98.0	99.0					10																	111637761		2203	4300	6503	SO:0001583	missense	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111637761C>T		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.1238G>A	10.37:g.111637761C>T	ENSP00000421566:p.Arg413His					XPNPEP1_ENST00000322238.8_Missense_Mutation_p.R413H|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.R299H|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.R413H	p.R370H	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	13	1357	-		Breast(234;0.174)	370						Missense_Mutation	SNP	ENST00000502935.1	37	c.1109G>A	CCDS7560.2	.	.	.	.	.	.	.	.	.	.	C	32	5.190773	0.94923	.	.	ENSG00000108039	ENST00000502935;ENST00000369683;ENST00000322238;ENST00000369680	T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09	5.77	5.77	0.91146	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.91831	0.7415	H	0.95712	3.71	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.936;0.972	D	0.93727	0.7038	10	0.87932	D	0	.	17.7656	0.88476	0.0:1.0:0.0:0.0	.	413;413;370	B4E2P4;G5E9Y2;Q9NQW7	.;.;XPP1_HUMAN	H	413;299;413;370	ENSP00000421566:R413H;ENSP00000358697:R299H;ENSP00000324011:R413H;ENSP00000358694:R370H	ENSP00000324011:R413H	R	-	2	0	XPNPEP1	111627751	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	6.887000	0.75616	2.729000	0.93468	0.467000	0.42956	CGC		0.463	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			4	66	0	0	0	1	0	4	66				
PLXNB1	5364	broad.mit.edu	37	3	48454246	48454246	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr3:48454246G>A	ENST00000358536.4	-	25	5028	c.4759C>T	c.(4759-4761)Cgg>Tgg	p.R1587W	PLXNB1_ENST00000358459.4_Missense_Mutation_p.R1404W|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R1404W|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1587W|PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000448774.2_Missense_Mutation_p.R198W	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1587					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCAGGTCCCGGTGCAAGGGC	0.622																																						ENST00000358536.4																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47						c.(4759-4761)Cgg>Tgg		plexin B1							49.0	51.0	51.0					3																	48454246		2203	4300	6503	SO:0001583	missense	5364				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding	g.chr3:48454246G>A	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4759C>T	3.37:g.48454246G>A	ENSP00000351338:p.Arg1587Trp					PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1587W|PLXNB1_ENST00000448774.2_Missense_Mutation_p.R198W|PLXNB1_ENST00000358459.4_Missense_Mutation_p.R1404W|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R1404W	p.R1587W	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	25	5028	-			1587					A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Missense_Mutation	SNP	ENST00000358536.4	37	c.4759C>T	CCDS2765.1	.	.	.	.	.	.	.	.	.	.	G	17.62	3.435485	0.62955	.	.	ENSG00000164050	ENST00000296440;ENST00000358459;ENST00000358536;ENST00000448774;ENST00000456774	T;T;T;T;T	0.12569	2.67;2.67;2.67;2.67;2.67	4.32	1.11	0.20524	Plexin, cytoplasmic RasGAP domain (1);	0.072704	0.56097	D	0.000028	T	0.34600	0.0903	M	0.77313	2.365	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	T	0.19712	-1.0297	10	0.72032	D	0.01	.	11.717	0.51659	0.0:0.0:0.3091:0.6909	.	1587;1404	O43157;O43157-2	PLXB1_HUMAN;.	W	1587;1404;1587;198;1404	ENSP00000296440:R1587W;ENSP00000351242:R1404W;ENSP00000351338:R1587W;ENSP00000389320:R198W;ENSP00000414199:R1404W	ENSP00000296440:R1587W	R	-	1	2	PLXNB1	48429250	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	2.451000	0.44952	0.499000	0.27970	-0.330000	0.08379	CGG		0.622	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673		17	29	0	0	0	1	0	17	29				
IGHM	3507	broad.mit.edu	37	14	106320841	106320841	+	RNA	SNP	C	C	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr14:106320841C>A	ENST00000390559.2	-	0	968				hsa-mir-4539_ENST00000579784.1_RNA|AL122127.5_ENST00000582202.1_RNA			P01871	IGHM_HUMAN	immunoglobulin heavy constant mu						adaptive immune response (GO:0002250)|antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|hexameric IgM immunoglobulin complex (GO:0071757)|integral component of membrane (GO:0016021)|pentameric IgM immunoglobulin complex (GO:0071756)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GCAGGGCCACCCCTGTGAACA	0.667																																						ENST00000390559.2																			0																				12.0	15.0	14.0					14																	106320841		2050	4142	6192			0							g.chr14:106320841C>A	X14940		14q32.33	2012-10-02			ENSG00000211899	ENSG00000211899		"""Immunoglobulins / IGH locus"""	5541	other	immunoglobulin gene		147020				2115996	Standard	NG_001019		Approved			P01871	OTTHUMG00000152452		14.37:g.106320841C>A														0	968	-								P20769	RNA	SNP	ENST00000390559.2	37																																																																																						0.667	IGHM-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326272.1	NG_001019		5	7	1	0	0.0215528	1	0.0215528	5	7				
LYRM5	144363	broad.mit.edu	37	12	25357118	25357118	+	Missense_Mutation	SNP	C	C	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr12:25357118C>A	ENST00000381356.4	+	3	304	c.145C>A	c.(145-147)Cca>Aca	p.P49T	LYRM5_ENST00000556927.1_Missense_Mutation_p.P47T|LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000556351.1_Missense_Mutation_p.P47T|LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000557540.2_Missense_Mutation_p.P47T|LYRM5_ENST00000553788.1_Intron|LYRM5_ENST00000556885.1_Missense_Mutation_p.P47T	NM_001001660.2	NP_001001660.2	Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	49						mitochondrion (GO:0005739)				large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			TGTGAAGAATCCAGAGAAGAT	0.363																																						ENST00000557540.2																			0				large_intestine(3)	3						c.(139-141)Cca>Aca		LYR motif containing 5							42.0	40.0	40.0					12																	25357118		1823	4074	5897	SO:0001583	missense	144363							g.chr12:25357118C>A	AK057730	CCDS53764.1	12p12.1	2006-09-19				ENSG00000205707		"""LYR motif containing"""	27052	protein-coding gene	gene with protein product							Standard	NM_001001660		Approved		uc001rgn.3	Q6IPR1		ENST00000381356.4:c.145C>A	12.37:g.25357118C>A	ENSP00000370761:p.Pro49Thr					LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000556885.1_Missense_Mutation_p.P47T|LYRM5_ENST00000556927.1_Missense_Mutation_p.P47T|LYRM5_ENST00000556351.1_Missense_Mutation_p.P47T|LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000553788.1_Intron|LYRM5_ENST00000381356.4_Missense_Mutation_p.P49T	p.P47T			Q6IPR1	LYRM5_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)		3	308	+	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		47					J3KPI7	Missense_Mutation	SNP	ENST00000381356.4	37	c.139C>A	CCDS53764.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.265012	0.80358	.	.	ENSG00000205707	ENST00000557540;ENST00000381356;ENST00000556885;ENST00000556351;ENST00000556927	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	5.88	5.0	0.66597	.	0.094628	0.85682	D	0.000000	D	0.85779	0.5776	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.71656	0.974	D	0.87451	0.2401	9	0.62326	D	0.03	.	14.2339	0.65911	0.0:0.9287:0.0:0.0713	.	47	Q6IPR1	LYRM5_HUMAN	T	47;49;47;47;47	ENSP00000450584:P47T;ENSP00000370761:P49T;ENSP00000451494:P47T;ENSP00000452146:P47T;ENSP00000450443:P47T	ENSP00000370761:P49T	P	+	1	0	LYRM5	25248385	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.422000	0.80217	1.487000	0.48415	0.655000	0.94253	CCA		0.363	LYRM5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_001001660		16	27	1	0	3.45872e-05	1	3.53732e-05	16	27				
CUX1	1523	broad.mit.edu	37	7	101671400	101671400	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:101671400C>T	ENST00000292535.7	+	3	202	c.164C>T	c.(163-165)cCg>cTg	p.P55L	CUX1_ENST00000360264.3_Missense_Mutation_p.P66L|CUX1_ENST00000546411.2_Missense_Mutation_p.P55L|CUX1_ENST00000556210.1_Missense_Mutation_p.P55L|CUX1_ENST00000425244.2_Missense_Mutation_p.P66L|CUX1_ENST00000393824.3_Missense_Mutation_p.P29L|CUX1_ENST00000437600.4_Missense_Mutation_p.P66L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.P55L|CUX1_ENST00000292538.4_Missense_Mutation_p.P66L|CUX1_ENST00000549414.2_Missense_Mutation_p.P55L|CUX1_ENST00000560541.1_3'UTR	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	55					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGGTAGCGCCGCTGCTGAAG	0.463																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(196-198)cCg>cTg		cut-like homeobox 1							78.0	74.0	75.0					7																	101671400		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101671400C>T	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.164C>T	7.37:g.101671400C>T	ENSP00000292535:p.Pro55Leu					CUX1_ENST00000292535.7_Missense_Mutation_p.P55L|CUX1_ENST00000393824.3_Missense_Mutation_p.P29L|CUX1_ENST00000556210.1_Missense_Mutation_p.P55L|CUX1_ENST00000550008.2_Missense_Mutation_p.P55L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.P55L|CUX1_ENST00000546411.2_Missense_Mutation_p.P55L|CUX1_ENST00000437600.4_Missense_Mutation_p.P66L|CUX1_ENST00000292538.4_Missense_Mutation_p.P66L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.P66L	p.P66L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			3	217	+			55					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.197C>T	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.841606	0.91197	.	.	ENSG00000257923	ENST00000292538;ENST00000360264;ENST00000393824;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.61739	0.2371	M	0.66297	2.02	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;P;D	0.91635	0.998;0.997;0.998;0.999;0.908;0.998	T	0.62618	-0.6816	10	0.87932	D	0	-15.4276	19.924	0.97098	0.0:1.0:0.0:0.0	.	29;55;66;66;66;66	B4DZZ2;P39880;B3KV79;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;CASP_HUMAN;.	L	66;66;66;66;66;55;55;55;55;55	ENSP00000292538:P66L;ENSP00000353401:P66L;ENSP00000409745:P66L;ENSP00000414091:P66L;ENSP00000292535:P55L;ENSP00000446630:P55L;ENSP00000447373:P55L;ENSP00000450125:P55L;ENSP00000451558:P55L	ENSP00000292535:P55L	P	+	2	0	CUX1	101458120	0.987000	0.35691	0.628000	0.29241	0.981000	0.71138	5.022000	0.64078	2.790000	0.95986	0.591000	0.81541	CCG		0.463	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		13	36	0	0	0	1	0	13	36				
ANK2	287	broad.mit.edu	37	4	114274342	114274342	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr4:114274342C>T	ENST00000357077.4	+	38	4621	c.4568C>T	c.(4567-4569)aCa>aTa	p.T1523I	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T1490I|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1523	Death 1. {ECO:0000255|PROSITE- ProRule:PRU00064}.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTGACCACAGATGTGTCT	0.443																																						ENST00000357077.4																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248						c.(4567-4569)aCa>aTa		ankyrin 2, neuronal							68.0	70.0	69.0					4																	114274342		2203	4300	6503	SO:0001583	missense	287				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	g.chr4:114274342C>T	M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.4568C>T	4.37:g.114274342C>T	ENSP00000349588:p.Thr1523Ile					ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T1490I|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron	p.T1523I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)	38	4621	+		Ovarian(17;0.0448)|Hepatocellular(203;0.218)	1490					Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	c.4568C>T	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	C	19.24	3.788720	0.70337	.	.	ENSG00000145362	ENST00000503423;ENST00000504454;ENST00000357077;ENST00000264366	T;T;T;T	0.72835	1.76;1.76;-0.69;-0.58	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000028	D	0.83128	0.5187	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.71414	0.943;0.973	T	0.81226	-0.1029	10	0.35671	T	0.21	.	17.0498	0.86515	0.0:0.8734:0.1266:0.0	.	1490;1523	Q01484;Q01484-4	ANK2_HUMAN;.	I	1436;1538;1523;1490	ENSP00000421011:T1436I;ENSP00000424722:T1538I;ENSP00000349588:T1523I;ENSP00000264366:T1490I	ENSP00000264366:T1490I	T	+	2	0	ANK2	114493791	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.214000	0.51161	2.759000	0.94783	0.650000	0.86243	ACA		0.443	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148		41	72	0	0	0	1	0	41	72				
SPATA20	64847	broad.mit.edu	37	17	48631681	48631681	+	Missense_Mutation	SNP	C	C	T	rs147500920		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:48631681C>T	ENST00000356488.4	+	14	2062	c.1979C>T	c.(1978-1980)aCg>aTg	p.T660M	SPATA20_ENST00000393244.3_Missense_Mutation_p.T616M|SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000006658.6_Missense_Mutation_p.T676M|CACNA1G-AS1_ENST00000505495.1_RNA|CACNA1G-AS1_ENST00000508920.1_RNA|CACNA1G-AS1_ENST00000505793.1_RNA	NM_001258372.1	NP_001245301.1	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	660					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)	catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CATGGCTTCACGGGCCACAAG	0.642																																						ENST00000006658.6																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(2026-2028)aCg>aTg		spermatogenesis associated 20							115.0	82.0	93.0					17																	48631681		2203	4300	6503	SO:0001583	missense	64847				cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding	g.chr17:48631681C>T		CCDS11571.1, CCDS58563.1, CCDS58564.1	17q21.33	2011-03-17			ENSG00000006282	ENSG00000006282			26125	protein-coding gene	gene with protein product	"""hypothetical protein FLJ21347"""	613939				12477932	Standard	NM_022827		Approved	FLJ21347, SSP411, Tisp78	uc002ird.3	Q8TB22	OTTHUMG00000162162	ENST00000356488.4:c.1979C>T	17.37:g.48631681C>T	ENSP00000348878:p.Thr660Met					SPATA20_ENST00000511937.1_3'UTR|SPATA20_ENST00000393244.3_Missense_Mutation_p.T616M|SPATA20_ENST00000356488.4_Missense_Mutation_p.T660M	p.T676M	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	BRCA - Breast invasive adenocarcinoma(22;9.38e-09)		15	2147	+	Breast(11;1.23e-18)		660					Q2TA99|Q2XUZ6|Q6P0P1|Q8WVW3|Q9H747	Missense_Mutation	SNP	ENST00000356488.4	37	c.2027C>T	CCDS58563.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.699577	0.68501	.	.	ENSG00000006282	ENST00000006658;ENST00000356488;ENST00000393244	T;T;T	0.67171	-0.25;-0.25;-0.25	5.25	5.25	0.73442	.	0.179257	0.46758	D	0.000274	T	0.77961	0.4209	M	0.76838	2.35	0.44042	D	0.996774	P;D	0.56521	0.914;0.976	B;P	0.54140	0.326;0.743	T	0.77872	-0.2426	10	0.36615	T	0.2	-31.0473	18.8839	0.92367	0.0:1.0:0.0:0.0	.	660;676	Q8TB22;Q8TB22-2	SPT20_HUMAN;.	M	676;660;616	ENSP00000006658:T676M;ENSP00000348878:T660M;ENSP00000376935:T616M	ENSP00000006658:T676M	T	+	2	0	SPATA20	45986680	0.998000	0.40836	0.949000	0.38748	0.896000	0.52359	3.747000	0.55134	2.467000	0.83353	0.561000	0.74099	ACG		0.642	SPATA20-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367651.1	NM_022827		3	40	0	0	0	1	0	3	40				
HOXD4	3233	broad.mit.edu	37	2	177017669	177017669	+	Nonstop_Mutation	SNP	A	A	G			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr2:177017669A>G	ENST00000306324.3	+	2	1179	c.767A>G	c.(766-768)tAg>tGg	p.*256W	HOXD3_ENST00000468418.3_5'UTR|MIR10B_ENST00000385011.1_RNA	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	0					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACGACCTTATAGAAGTGGGGA	0.632																																						ENST00000306324.3																			0				kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(766-768)tAg>tGg		homeobox D4							58.0	63.0	61.0					2																	177017669		2203	4300	6503	SO:0001578	stop_lost	3233					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:177017669A>G		CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.767A>G	2.37:g.177017669A>G	ENSP00000302548:p.*256Trpext*81					HOXD3_ENST00000468418.3_5'UTR	p.*256W	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	2	1179	+			0					B2R9R3|Q96AU0	Nonstop_Mutation	SNP	ENST00000306324.3	37	c.767A>G	CCDS2269.1	.	.	.	.	.	.	.	.	.	.	A	14.57	2.574459	0.45902	.	.	ENSG00000170166	ENST00000306324	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.477	0.67554	1.0:0.0:0.0:0.0	.	.	.	.	W	256	.	.	X	+	2	0	HOXD4	176725915	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.820000	0.75267	2.161000	0.67846	0.459000	0.35465	TAG		0.632	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255697.2			21	43	0	0	0	1	0	21	43				
MYH1	4619	broad.mit.edu	37	17	10419305	10419305	+	Missense_Mutation	SNP	C	C	T	rs542085416		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:10419305C>T	ENST00000226207.5	-	5	537	c.443G>A	c.(442-444)cGc>cAc	p.R148H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	148	Myosin motor.				muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R148H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTCCTGGCGCTTTTTGCC	0.502													.|||	1	0.000199681	0.0	0.0	5008	,	,		16387	0.0		0.0	False		,,,				2504	0.001					ENST00000226207.5																			1	Substitution - Missense(1)	p.R148H(1)	endometrium(1)	NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(442-444)cGc>cAc		myosin, heavy chain 1, skeletal muscle, adult							151.0	153.0	152.0					17																	10419305		2203	4300	6503	SO:0001583	missense	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10419305C>T		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.443G>A	17.37:g.10419305C>T	ENSP00000226207:p.Arg148His					CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R148H	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			5	537	-			148			Myosin head-like.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.443G>A	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	C	34	5.409836	0.96072	.	.	ENSG00000109061	ENST00000226207;ENST00000379814	D	0.88354	-2.37	5.74	5.74	0.90152	Myosin head, motor domain (2);	0.000000	0.42964	U	0.000622	D	0.96466	0.8847	H	0.95402	3.665	0.58432	D	0.999999	D	0.76494	0.999	D	0.72338	0.977	D	0.97133	0.9819	10	0.87932	D	0	.	19.9212	0.97085	0.0:1.0:0.0:0.0	.	148	P12882	MYH1_HUMAN	H	148	ENSP00000226207:R148H	ENSP00000226207:R148H	R	-	2	0	MYH1	10360030	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.781000	0.85668	2.697000	0.92050	0.655000	0.94253	CGC		0.502	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		36	94	0	0	0	1	0	36	94				
NR1H2	7376	broad.mit.edu	37	19	50882296	50882296	+	Missense_Mutation	SNP	C	C	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr19:50882296C>T	ENST00000253727.5	+	7	1020	c.785C>T	c.(784-786)gCc>gTc	p.A262V	NR1H2_ENST00000411902.2_Missense_Mutation_p.A165V|NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000599105.1_Intron|NR1H2_ENST00000598168.1_Intron|NR1H2_ENST00000593926.1_Missense_Mutation_p.A262V	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	262	Ligand-binding. {ECO:0000255}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCCCGAGATGCCCGCCAGCAA	0.632																																						ENST00000253727.5																			0				endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8						c.(784-786)gCc>gTc		nuclear receptor subfamily 1, group H, member 2							63.0	74.0	71.0					19																	50882296		2144	4277	6421	SO:0001583	missense	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50882296C>T	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.785C>T	19.37:g.50882296C>T	ENSP00000253727:p.Ala262Val					NR1H2_ENST00000411902.2_Missense_Mutation_p.A165V|NR1H2_ENST00000598168.1_Intron|NR1H2_ENST00000599105.1_Intron|NR1H2_ENST00000593926.1_Missense_Mutation_p.A262V|NR1H2_ENST00000542413.1_Intron	p.A262V	NM_007121.5	NP_009052.3	P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	7	1020	+		all_neural(266;0.057)	262			Ligand-binding (Potential).		A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	ENST00000253727.5	37	c.785C>T	CCDS42593.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.758726	0.49468	.	.	ENSG00000131408	ENST00000253727;ENST00000411902;ENST00000376942	D;D	0.96554	-4.05;-4.05	4.28	4.28	0.50868	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.000000	0.64402	D	0.000013	D	0.90208	0.6939	N	0.04335	-0.225	0.80722	D	1	B;P	0.35328	0.058;0.495	B;B	0.36608	0.045;0.229	D	0.90024	0.4130	10	0.33940	T	0.23	.	15.9906	0.80202	0.0:1.0:0.0:0.0	.	262;165	P55055;E7EWA6	NR1H2_HUMAN;.	V	262;165;262	ENSP00000253727:A262V;ENSP00000396151:A165V	ENSP00000253727:A262V	A	+	2	0	NR1H2	55574108	0.998000	0.40836	0.932000	0.37286	0.996000	0.88848	3.490000	0.53245	2.386000	0.81285	0.561000	0.74099	GCC		0.632	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			4	122	0	0	0	1	0	4	122				
CACNG3	10368	broad.mit.edu	37	16	24373179	24373179	+	Missense_Mutation	SNP	G	G	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr16:24373179G>A	ENST00000005284.3	+	4	2145	c.943G>A	c.(943-945)Gtc>Atc	p.V315I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	315					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.V315I(2)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		CACCACGCCCGTCTGAACTGA	0.552																																						ENST00000005284.3																			2	Substitution - Missense(2)	p.V315I(2)	NS(1)|endometrium(1)	NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40						c.(943-945)Gtc>Atc		calcium channel, voltage-dependent, gamma subunit 3							37.0	39.0	38.0					16																	24373179		2197	4300	6497	SO:0001583	missense	10368				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr16:24373179G>A	AF131911	CCDS10620.1	16p12.1	2008-05-14			ENSG00000006116	ENSG00000006116		"""Calcium channel subunits"""	1407	protein-coding gene	gene with protein product		606403				10221464, 10493829	Standard	NM_006539		Approved		uc002dmf.3	O60359	OTTHUMG00000131651	ENST00000005284.3:c.943G>A	16.37:g.24373179G>A	ENSP00000005284:p.Val315Ile						p.V315I	NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN		GBM - Glioblastoma multiforme(48;0.0809)	4	2145	+			315						Missense_Mutation	SNP	ENST00000005284.3	37	c.943G>A	CCDS10620.1	.	.	.	.	.	.	.	.	.	.	g	25.7	4.660745	0.88154	.	.	ENSG00000006116	ENST00000005284	T	0.66099	-0.19	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.78091	0.4229	M	0.65498	2.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.80832	-0.1206	10	0.72032	D	0.01	.	17.8078	0.88607	0.0:0.0:1.0:0.0	.	315	O60359	CCG3_HUMAN	I	315	ENSP00000005284:V315I	ENSP00000005284:V315I	V	+	1	0	CACNG3	24280680	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.472000	0.97709	2.266000	0.75297	0.645000	0.84053	GTC		0.552	CACNG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254548.1	NM_006539		13	32	0	0	0	1	0	13	32				
CAPG	822	broad.mit.edu	37	2	85622055	85622055	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr2:85622055C>G	ENST00000409921.1	-	10	1029	c.963G>C	c.(961-963)gaG>gaC	p.E321D	CAPG_ENST00000409724.1_Missense_Mutation_p.E336D|CAPG_ENST00000409670.1_Missense_Mutation_p.E336D|CAPG_ENST00000483659.1_5'Flank|CAPG_ENST00000263867.4_Missense_Mutation_p.E336D			Q9BPX3	CND3_HUMAN	capping protein (actin filament), gelsolin-like	0					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						AGATGGGACTCTCATGGCCCT	0.597																																						ENST00000263867.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						c.(1006-1008)gaG>gaC		capping protein (actin filament), gelsolin-like							58.0	56.0	57.0					2																	85622055		2203	4300	6503	SO:0001583	missense	822				barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding	g.chr2:85622055C>G	M94345	CCDS1974.1, CCDS58715.1	2p11.2	2008-06-04			ENSG00000042493	ENSG00000042493			1474	protein-coding gene	gene with protein product	"""macrophage capping protein"""	153615		AFCP		1322908, 12754261	Standard	NM_001747		Approved	MCP	uc010fgi.2	P40121	OTTHUMG00000130183	ENST00000409921.1:c.963G>C	2.37:g.85622055C>G	ENSP00000387063:p.Glu321Asp					CAPG_ENST00000409670.1_Missense_Mutation_p.E336D|CAPG_ENST00000409724.1_Missense_Mutation_p.E336D|CAPG_ENST00000409921.1_Missense_Mutation_p.E321D	p.E336D	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN			10	1257	-			336					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000409921.1	37	c.1008G>C	CCDS58715.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118934	0.77323	.	.	ENSG00000042493	ENST00000542681;ENST00000263867;ENST00000453973;ENST00000409921;ENST00000409670;ENST00000409724	T;T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67;-0.67	5.69	4.82	0.62117	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	D	0.87152	0.6106	H	0.94264	3.515	0.48452	D	0.999653	D;D	0.76494	0.99;0.999	D;D	0.85130	0.989;0.997	D	0.89298	0.3624	10	0.87932	D	0	.	10.5871	0.45288	0.0:0.9117:0.0:0.0883	.	321;336	B8ZZS7;P40121	.;CAPG_HUMAN	D	315;336;91;321;336;336	ENSP00000263867:E336D;ENSP00000397381:E91D;ENSP00000387063:E321D;ENSP00000386315:E336D;ENSP00000386965:E336D	ENSP00000263867:E336D	E	-	3	2	CAPG	85475566	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	1.189000	0.32114	1.424000	0.47217	0.655000	0.94253	GAG		0.597	CAPG-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329383.1	NM_001747		8	19	0	0	0	1	0	8	19				
MCTP1	79772	broad.mit.edu	37	5	94044279	94044279	+	Missense_Mutation	SNP	A	A	G	rs141609728		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr5:94044279A>G	ENST00000515393.1	-	22	2865	c.2866T>C	c.(2866-2868)Tat>Cat	p.Y956H	MCTP1_ENST00000312216.8_Missense_Mutation_p.Y735H|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000514040.1_5'UTR|MCTP1_ENST00000505078.1_Missense_Mutation_p.Y472H|MCTP1_ENST00000429576.2_Missense_Mutation_p.Y649H	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	956					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCAATTGCATATGGACTCCGA	0.323													A|||	1	0.000199681	0.0008	0.0	5008	,	,		19217	0.0		0.0	False		,,,				2504	0.0					ENST00000515393.1																			0				breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41						c.(2866-2868)Tat>Cat		multiple C2 domains, transmembrane 1		A	HIS/TYR,HIS/TYR	2,4404	4.2+/-10.8	0,2,2201	139.0	130.0	133.0		2203,2866	5.1	1.0	5	dbSNP_134	133	0,8600		0,0,4300	yes	missense,missense	MCTP1	NM_001002796.2,NM_024717.4	83,83	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	benign,benign	735/779,956/1000	94044279	2,13004	2203	4300	6503	SO:0001583	missense	79772				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr5:94044279A>G		CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.2866T>C	5.37:g.94044279A>G	ENSP00000424126:p.Tyr956His					MCTP1_ENST00000514040.1_5'UTR|ANKRD32_ENST00000493934.1_Intron|MCTP1_ENST00000312216.8_Missense_Mutation_p.Y735H|MCTP1_ENST00000505078.1_Missense_Mutation_p.Y472H|MCTP1_ENST00000429576.2_Missense_Mutation_p.Y649H	p.Y956H	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN		all cancers(79;9.1e-17)	22	2865	-		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)	956					Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	c.2866T>C	CCDS34203.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	19.27	3.795473	0.70452	4.54E-4	0.0	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000505078;ENST00000312216;ENST00000508509	T;T;T;T;T	0.76839	-1.05;-0.8;-0.01;-0.94;-0.76	5.1	5.1	0.69264	Phosphoribosyltransferase C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82806	0.5117	L	0.46157	1.445	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.994;0.974	T	0.78795	-0.2064	10	0.15066	T	0.55	-10.3258	15.1704	0.72869	1.0:0.0:0.0:0.0	.	956;649;735	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	H	956;649;472;735;676	ENSP00000424126:Y956H;ENSP00000391639:Y649H;ENSP00000426417:Y472H;ENSP00000308957:Y735H;ENSP00000423410:Y676H	ENSP00000308957:Y735H	Y	-	1	0	MCTP1	94070035	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	8.910000	0.92685	2.059000	0.61396	0.533000	0.62120	TAT		0.323	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717		13	33	0	0	0	1	0	13	33				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	112	0	0	0	1	0	6	112				
NDNL2	56160	broad.mit.edu	37	15	29561310	29561310	+	Missense_Mutation	SNP	G	G	C			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr15:29561310G>C	ENST00000332303.4	-	1	723	c.600C>G	c.(598-600)gaC>gaG	p.D200E	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	200	Interaction with NSMCE1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Smc5-Smc6 complex (GO:0030915)				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCCGCAGAAAGTCCCAGGCTT	0.517																																						ENST00000332303.4																			0				breast(3)|large_intestine(2)|lung(3)	8						c.(598-600)gaC>gaG		necdin-like 2							45.0	48.0	47.0					15																	29561310		2203	4300	6503	SO:0001583	missense	56160				regulation of growth	cytoplasm|nucleus		g.chr15:29561310G>C	AF490510	CCDS10023.1	15q13.1	2008-02-01			ENSG00000185115	ENSG00000185115			7677	protein-coding gene	gene with protein product		608243				18086888	Standard	NM_138704		Approved	HCA4, MAGEG1, MAGEL3, NSE3, NSMCE3	uc001zco.3	Q96MG7	OTTHUMG00000129261	ENST00000332303.4:c.600C>G	15.37:g.29561310G>C	ENSP00000330694:p.Asp200Glu					FAM189A1_ENST00000261275.4_Intron	p.D200E	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)	1	723	-		all_lung(180;4.69e-11)|Breast(32;0.0013)	200			MAGE.		Q8IW16|Q8TEI6|Q9H214	Missense_Mutation	SNP	ENST00000332303.4	37	c.600C>G	CCDS10023.1	.	.	.	.	.	.	.	.	.	.	G	3.408	-0.120735	0.06838	.	.	ENSG00000185115	ENST00000332303	T	0.04049	3.72	4.1	2.21	0.28008	.	0.180338	0.47455	D	0.000236	T	0.01730	0.0055	N	0.03177	-0.4	0.30076	N	0.809604	B	0.15930	0.015	B	0.23716	0.048	T	0.45279	-0.9272	10	0.02654	T	1	.	5.5865	0.17277	0.1079:0.2021:0.6901:0.0	.	200	Q96MG7	MAGG1_HUMAN	E	200	ENSP00000330694:D200E	ENSP00000330694:D200E	D	-	3	2	NDNL2	27348602	1.000000	0.71417	0.986000	0.45419	0.921000	0.55340	1.727000	0.38095	0.671000	0.31185	0.563000	0.77884	GAC		0.517	NDNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251370.1	NM_138704		22	40	0	0	0	1	0	22	40				
LLGL2	3993	broad.mit.edu	37	17	73566103	73566103	+	Silent	SNP	C	C	T	rs532394871		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:73566103C>T	ENST00000392550.3	+	15	1758	c.1641C>T	c.(1639-1641)gcC>gcT	p.A547A	LLGL2_ENST00000167462.5_Silent_p.A547A|LLGL2_ENST00000577200.1_Silent_p.A547A	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	547					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGGTGGAGGCCGACCTGCTGC	0.667																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(1639-1641)gcC>gcT		lethal giant larvae homolog 2 (Drosophila)							34.0	33.0	33.0					17																	73566103		2202	4300	6502	SO:0001819	synonymous_variant	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73566103C>T	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.1641C>T	17.37:g.73566103C>T						LLGL2_ENST00000167462.5_Silent_p.A547A|LLGL2_ENST00000577200.1_Silent_p.A547A	p.A547A	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		15	1758	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		547					Q14521|Q9BR62	Silent	SNP	ENST00000392550.3	37	c.1641C>T	CCDS32733.1																																																																																				0.667	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		9	31	0	0	0	1	0	9	31				
EGFR	1956	broad.mit.edu	37	7	55232997	55232997	+	Missense_Mutation	SNP	G	G	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:55232997G>T	ENST00000275493.2	+	15	1924	c.1747G>T	c.(1747-1749)Gcc>Tcc	p.A583S	EGFR_ENST00000454757.2_Missense_Mutation_p.A530S|EGFR_ENST00000455089.1_Missense_Mutation_p.A538S|EGFR_ENST00000342916.3_Missense_Mutation_p.A583S|EGFR_ENST00000442591.1_Missense_Mutation_p.A583S|EGFR_ENST00000344576.2_Missense_Mutation_p.A583S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	583					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TATCCAGTGTGCCCACTACAT	0.498		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		0				NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1747-1749)Gcc>Tcc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						88.0	76.0	80.0					7																	55232997		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55232997G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1747G>T	7.37:g.55232997G>T	ENSP00000275493:p.Ala583Ser	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000344576.2_Missense_Mutation_p.A583S|EGFR_ENST00000442591.1_Missense_Mutation_p.A583S|EGFR_ENST00000342916.3_Missense_Mutation_p.A583S|EGFR_ENST00000454757.2_Missense_Mutation_p.A530S|EGFR_ENST00000455089.1_Missense_Mutation_p.A538S	p.A583S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	1924	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		583					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1747G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943353	0.53079	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93	5.96	5.96	0.96718	Growth factor, receptor (1);	0.046579	0.85682	D	0.000000	T	0.56978	0.2022	L	0.46885	1.475	0.54753	D	0.99998	B;B;D;P	0.54397	0.03;0.052;0.966;0.837	B;B;D;P	0.64144	0.03;0.036;0.922;0.709	T	0.41179	-0.9523	10	0.27082	T	0.32	.	18.9858	0.92769	0.0:0.0:1.0:0.0	.	538;583;583;583	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	S	538;583;453;583;583;583;530;377	ENSP00000415559:A538S;ENSP00000342376:A583S;ENSP00000345973:A583S;ENSP00000275493:A583S;ENSP00000410031:A583S;ENSP00000395243:A530S	ENSP00000275493:A583S	A	+	1	0	EGFR	55200491	1.000000	0.71417	0.989000	0.46669	0.782000	0.44232	5.553000	0.67287	2.832000	0.97577	0.655000	0.94253	GCC		0.498	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		12	61	1	0	1.05317e-09	1	1.18482e-09	12	61				
EGFR	1956	broad.mit.edu	37	7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	rs139236063		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		15	Substitution - Missense(15)	p.G598V(15)	central_nervous_system(15)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(1792-1794)gGa>gTa		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						96.0	84.0	88.0					7																	55233043		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55233043G>T		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1793G>T	7.37:g.55233043G>T	ENSP00000275493:p.Gly598Val	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V	p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		15	1970	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		598					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.1793G>T	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.567929	0.86439	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.87	5.87	0.94306	Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	T	0.75671	0.3881	H	0.94503	3.545	0.80722	D	1	D;D;D;D	0.89917	0.991;0.999;0.998;1.0	P;D;D;D	0.91635	0.729;0.924;0.977;0.999	T	0.81858	-0.0739	10	0.72032	D	0.01	.	18.7698	0.91887	0.0:0.0:1.0:0.0	.	553;598;598;598	Q504U8;P00533;P00533-3;P00533-4	.;EGFR_HUMAN;.;.	V	553;598;468;598;598;598;545;392	ENSP00000415559:G553V;ENSP00000342376:G598V;ENSP00000345973:G598V;ENSP00000275493:G598V;ENSP00000410031:G598V;ENSP00000395243:G545V	ENSP00000275493:G598V	G	+	2	0	EGFR	55200537	1.000000	0.71417	0.454000	0.27019	0.665000	0.39181	7.905000	0.87416	2.785000	0.95823	0.655000	0.94253	GGA		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		15	52	1	0	3.27435e-08	1	3.50823e-08	15	52				
STEAP1	26872	broad.mit.edu	37	7	89790581	89790581	+	Missense_Mutation	SNP	C	C	G			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:89790581C>G	ENST00000297205.2	+	3	747	c.547C>G	c.(547-549)Cca>Gca	p.P183A	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	183	Ferric oxidoreductase.				ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					TCTGTCTTACCCAATGAGGCG	0.388																																						ENST00000297205.2																			0				kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14						c.(547-549)Cca>Gca		six transmembrane epithelial antigen of the prostate 1							95.0	79.0	85.0					7																	89790581		2203	4299	6502	SO:0001583	missense	26872				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity	g.chr7:89790581C>G	AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.547C>G	7.37:g.89790581C>G	ENSP00000297205:p.Pro183Ala					STEAP2-AS1_ENST00000478318.2_RNA	p.P183A	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN			3	747	+	all_hematologic(106;0.112)		183			Ferric oxidoreductase.		A4D1E0|O95034	Missense_Mutation	SNP	ENST00000297205.2	37	c.547C>G	CCDS5614.1	.	.	.	.	.	.	.	.	.	.	C	17.38	3.373993	0.61735	.	.	ENSG00000164647	ENST00000297205	D	0.90844	-2.74	5.29	5.29	0.74685	Flavoprotein transmembrane component (1);	0.000000	0.64402	D	0.000001	D	0.91962	0.7454	M	0.78049	2.395	0.58432	D	0.999996	B;B	0.29162	0.01;0.235	B;B	0.34824	0.054;0.19	D	0.90607	0.4549	10	0.54805	T	0.06	-5.5449	19.113	0.93326	0.0:1.0:0.0:0.0	.	183;183	B4E221;Q9UHE8	.;STEA1_HUMAN	A	183	ENSP00000297205:P183A	ENSP00000297205:P183A	P	+	1	0	STEAP1	89628517	1.000000	0.71417	0.998000	0.56505	0.351000	0.29236	5.308000	0.65768	2.746000	0.94184	0.655000	0.94253	CCA		0.388	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059327.3	NM_012449		5	78	0	0	0	1	0	5	78				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		3	43	0	0	0	1	0	3	43				
MALAT1	378938	broad.mit.edu	37	11	65268060	65268060	+	lincRNA	SNP	A	A	G			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr11:65268060A>G	ENST00000534336.1	+	0	2828				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AGCGCTAACGATTTGGTGGTG	0.532																																						ENST00000534336.1																			0																				142.0	124.0	130.0					11																	65268060		874	1988	2862			0							g.chr11:65268060A>G	AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268060A>G								NR_002819.2						0	2828	+									RNA	SNP	ENST00000534336.1	37																																																																																						0.532	MALAT1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000389143.1	NR_002819		56	49	0	0	0	1	0	56	49				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	57	0	0	0	1	0	4	57				
CDHR5	53841	broad.mit.edu	37	11	618738	618738	+	Silent	SNP	T	T	C			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr11:618738T>C	ENST00000358353.3	-	14	2143	c.1821A>G	c.(1819-1821)gcA>gcG	p.A607A	IRF7_ENST00000397570.1_5'Flank|CDHR5_ENST00000397542.2_Silent_p.A607A|IRF7_ENST00000330243.5_5'Flank|CDHR5_ENST00000349570.7_Intron|IRF7_ENST00000397562.3_5'Flank|IRF7_ENST00000397574.2_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	607	4 X 31 AA approximate tandem repeats.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GAGAGGTTCCTGCCTCTGGGG	0.662																																						ENST00000358353.3																			0				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						c.(1819-1821)gcA>gcG		cadherin-related family member 5							109.0	117.0	114.0					11																	618738		2202	4300	6502	SO:0001819	synonymous_variant	53841				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:618738T>C	AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1821A>G	11.37:g.618738T>C						CDHR5_ENST00000397542.2_Silent_p.A607A|CDHR5_ENST00000349570.7_Intron	p.A607A			Q9HBB8	CDHR5_HUMAN			14	2143	-			607			4 X 31 AA approximate tandem repeats.		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Silent	SNP	ENST00000358353.3	37	c.1821A>G	CCDS7707.1																																																																																				0.662	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255023.2	NM_021924		57	109	0	0	0	1	0	57	109				
HYI	81888	broad.mit.edu	37	1	43919413	43919413	+	Frame_Shift_Del	DEL	A	A	-	rs6692611	byFrequency	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr1:43919413delA	ENST00000372425.4	-	1	247	c.52delT	c.(52-54)tccfs	p.S18fs	HYI-AS1_ENST00000444386.1_RNA|HYI_ENST00000372432.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000583037.1_5'UTR|HYI_ENST00000372426.1_5'Flank|HYI_ENST00000372434.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000486909.1_Frame_Shift_Del_p.S18fs			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	18				S -> P (in Ref. 1; AAV84474, 3; AAK67642 and 5; AAH19041). {ECO:0000305}.			hydroxypyruvate isomerase activity (GO:0008903)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGAGGCCGGAGAGCTCGGGG	0.771																																						ENST00000372425.4																			0				large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6						c.(52-54)ccfs		hydroxypyruvate isomerase (putative)							3.0	3.0	3.0					1																	43919413		741	1762	2503	SO:0001589	frameshift_variant	81888						hydroxypyruvate isomerase activity	g.chr1:43919413delA		CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"""hydroxypyruvate isomerase homolog (E. coli)"""			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502	ENST00000372425.4:c.52delT	1.37:g.43919413delA	ENSP00000361502:p.Ser18fs					HYI_ENST00000372434.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000372432.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000583037.1_5'UTR|HYI_ENST00000486909.1_Frame_Shift_Del_p.S18fs	p.S18fs			Q5T013	HYI_HUMAN			1	247	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	18	S -> P (in Ref. 1; AAV84474, 3; AAK67642 and 5; AAH19041).				D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Frame_Shift_Del	DEL	ENST00000372425.4	37	c.52delT	CCDS53309.1																																																																																				0.771	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207		2	4						2	4	---	---	---	---
PRG4	10216	broad.mit.edu	37	1	186276044	186276046	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr1:186276044_186276046delCCA	ENST00000445192.2	+	7	1238_1240	c.1193_1195delCCA	c.(1192-1197)cccacc>ccc	p.T401del	PRG4_ENST00000367486.3_In_Frame_Del_p.T358del|PRG4_ENST00000367484.3_In_Frame_Del_p.T360del|PRG4_ENST00000367483.4_In_Frame_Del_p.T360del|PRG4_ENST00000367485.4_In_Frame_Del_p.T308del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	401	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GAGCCTGCACCCACCACCACCAA	0.65																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1192-1197)ccc>c		proteoglycan 4																																				SO:0001651	inframe_deletion	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276044_186276046delCCA	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1193_1195delCCA	1.37:g.186276053_186276055delCCA	ENSP00000399679:p.Thr401del					PRG4_ENST00000367484.3_In_Frame_Del_p.PT357del|PRG4_ENST00000367483.4_In_Frame_Del_p.PT357del|PRG4_ENST00000367486.3_In_Frame_Del_p.PT355del|PRG4_ENST00000367485.4_In_Frame_Del_p.PT305del	p.PT398del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1238_1240	+			398			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	c.1193_1195delCCA	CCDS1369.1																																																																																				0.650	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		7	121						7	121	---	---	---	---
LINC01250	101927554	broad.mit.edu	37	2	2910722	2910723	+	lincRNA	INS	-	-	T	rs373675312		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr2:2910722_2910723insT	ENST00000457478.1	-	0	594																											tccaccccctctccccagccca	0.708																																						ENST00000457478.1																			0																																																			0							g.chr2:2910722_2910723insT																													2.37:g.2910723_2910723dupT														0	594	-									RNA	INS	ENST00000457478.1	37																																																																																						0.708	AC019118.2-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000322597.1			3	4						3	4	---	---	---	---
LINC01158	100506421	broad.mit.edu	37	2	105440929	105440930	+	RNA	INS	-	-	T			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr2:105440929_105440930insT	ENST00000458253.1	-	0	147				AC018730.1_ENST00000413121.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000454729.1_RNA|AC018730.1_ENST00000443988.1_RNA																							ggtggtgatggtggtggtggtg	0.589																																						ENST00000458253.1																			0																																																			0							g.chr2:105440929_105440930insT																													2.37:g.105440930_105440930dupT						AC018730.1_ENST00000413121.1_RNA|AC018730.1_ENST00000454729.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000443988.1_RNA								0	147	-									RNA	INS	ENST00000458253.1	37																																																																																						0.589	AC018730.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000329327.1			2	4						2	4	---	---	---	---
ARID1B	57492	broad.mit.edu	37	6	157100396	157100397	+	In_Frame_Ins	INS	-	-	CGC	rs572236007	byFrequency	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr6:157100396_157100397insCGC	ENST00000350026.5	+	1	1334_1335	c.1333_1334insCGC	c.(1333-1335)gcg>gCGCcg	p.450_451insP	RP11-230C9.3_ENST00000604792.1_RNA|MIR4466_ENST00000606121.1_RNA|RP11-230C9.2_ENST00000603191.1_lincRNA|ARID1B_ENST00000367148.1_In_Frame_Ins_p.450_451insP|ARID1B_ENST00000275248.4_In_Frame_Ins_p.392_393insP|ARID1B_ENST00000346085.5_In_Frame_Ins_p.450_451insP	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	450	Ala-rich.		P -> PP. {ECO:0000269|PubMed:22405089}.		chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)	p.P392_S393insP(1)		NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CAGCCCCAGCGCGCCGCCGCCG	0.787														126	0.0251597	0.0068	0.0519	5008	,	,		3321	0.0		0.0676	False		,,,				2504	0.0133					ENST00000346085.5																			1	Insertion - In frame(1)	p.P392_S393insP(1)	prostate(1)	NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81						c.(1333-1335)gcc>CGCgcc		AT rich interactive domain 1B (SWI1-like)			,	13,1303		3,7,648					,	2.2	1.0			4	150,3080		29,92,1494	no	coding,coding	ARID1B	NM_020732.3,NM_017519.2	,	32,99,2142	A1A1,A1R,RR		4.644,0.9878,3.5856	,	,		163,4383				SO:0001652	inframe_insertion	57492				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr6:157100396_157100397insCGC	AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.1346_1348dupCGC	6.37:g.157100403_157100405dupCGC	ENSP00000055163:p.Pro450_Pro450dup					ARID1B_ENST00000367148.1_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000350026.5_In_Frame_Ins_p.444_445insR|ARID1B_ENST00000275248.4_In_Frame_Ins_p.386_387insR	p.444_445insR	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)	1	1334_1335	+		Breast(66;0.000162)|Ovarian(120;0.0265)	444			Ala-rich.		Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	In_Frame_Ins	INS	ENST00000350026.5	37	c.1333_1334insCGC	CCDS5251.2																																																																																				0.787	ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732		3	3						3	3	---	---	---	---
LINCR-0001	101929191	broad.mit.edu	37	8	10335889	10335903	+	lincRNA	DEL	GGCTGCAGTGGTTGT	GGCTGCAGTGGTTGT	-	rs149123714|rs55641852	byFrequency	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr8:10335889_10335903delGGCTGCAGTGGTTGT	ENST00000517732.1	+	0	223				RP11-981G7.3_ENST00000520494.1_lincRNA|RNU6-729P_ENST00000384399.1_RNA																							GTGGTTGTCAGGCTGCAGTGGTTGTGGCTGCAGTG	0.586														257	0.0513179	0.0643	0.0576	5008	,	,		16018	0.001		0.0984	False		,,,				2504	0.0327					ENST00000517732.1																			0																																																			0							g.chr8:10335889_10335903delGGCTGCAGTGGTTGT																													8.37:g.10335889_10335903delGGCTGCAGTGGTTGT						RP11-981G7.3_ENST00000520494.1_lincRNA								0	223	+									RNA	DEL	ENST00000517732.1	37																																																																																						0.586	RP11-981G7.2-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000375446.1			5	5						5	5	---	---	---	---
KMT2A	4297	broad.mit.edu	37	11	118307414	118307416	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr11:118307414_118307416delGCG	ENST00000389506.5	+	1	187_189	c.187_189delGCG	c.(187-189)gcgdel	p.A67del	RP11-770J1.4_ENST00000532619.1_5'Flank|KMT2A_ENST00000534358.1_In_Frame_Del_p.A67del|KMT2A_ENST00000354520.4_In_Frame_Del_p.A67del			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	67	Ala/Gly/Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										tgtggcggccgcggcggcggcgg	0.813																																						ENST00000534358.1																			0											c.(187-189)del		lysine (K)-specific methyltransferase 2A			,	7,1077		1,5,536					,	0.3	1.0			3	34,2792		5,24,1384	no	coding,coding	MLL	NM_005933.3,NM_001197104.1	,	6,29,1920	A1A1,A1R,RR		1.2031,0.6458,1.0486	,	,		41,3869				SO:0001651	inframe_deletion	4297							g.chr11:118307414_118307416delGCG	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.187_189delGCG	11.37:g.118307423_118307425delGCG	ENSP00000374157:p.Ala67del					KMT2A_ENST00000389506.5_In_Frame_Del_p.A67del|KMT2A_ENST00000354520.4_In_Frame_Del_p.A67del	p.A67del	NM_001197104.1|NM_005933.3	NP_001184033.1|NP_005924.2					1	210_212	+								E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	In_Frame_Del	DEL	ENST00000389506.5	37	c.187_189delGCG	CCDS31686.1																																																																																				0.813	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		2	4						2	4	---	---	---	---
CHD4	1108	broad.mit.edu	37	12	6711207	6711209	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr12:6711207_6711209delCTT	ENST00000357008.2	-	4	518_520	c.355_357delAAG	c.(355-357)aagdel	p.K119del	CHD4_ENST00000309577.6_In_Frame_Del_p.K119del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	119	Poly-Lys.				ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)	p.K119delK(3)		central_nervous_system(2)	2						TAGGTCCAAGCTTCTTCTTCTTC	0.537																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			3	Deletion - In frame(3)	p.K119delK(3)	central_nervous_system(3)	central_nervous_system(2)	2						c.(355-357)del		chromodomain helicase DNA binding protein 4				115,4123		4,107,2008						4.7	1.0			29	227,7995		2,223,3886	no	coding	CHD4	NM_001273.2		6,330,5894	A1A1,A1R,RR		2.7609,2.7135,2.7448				342,12118				SO:0001651	inframe_deletion	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6711207_6711209delCTT	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.355_357delAAG	12.37:g.6711216_6711218delCTT	ENSP00000349508:p.Lys119del					CHD4_ENST00000357008.2_In_Frame_Del_p.K119del|CHD4_ENST00000544484.1_In_Frame_Del_p.K116del|CHD4_ENST00000544040.1_In_Frame_Del_p.K112del	p.K119del			Q14839	CHD4_HUMAN			4	518_520	-			119			Poly-Lys.		Q8IXZ5	In_Frame_Del	DEL	ENST00000357008.2	37	c.355_357delAAG	CCDS8552.1																																																																																				0.537	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		7	55						7	55	---	---	---	---
CHORDC2P	317775	broad.mit.edu	37	14	90203658	90203660	+	RNA	DEL	CTC	CTC	-	rs10140344|rs376782547	byFrequency	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr14:90203658_90203660delCTC	ENST00000555070.1	-	0	170																											TATTTCTTTTCTCTTTCTTTCtt	0.355																																						ENST00000555070.1																			0																																																			0							g.chr14:90203658_90203660delCTC																													14.37:g.90203658_90203660delCTC														0	170	-									RNA	DEL	ENST00000555070.1	37																																																																																						0.355	RP11-33N16.3-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000411023.1			6	3						6	3	---	---	---	---
AKAP13	11214	broad.mit.edu	37	15	86287023	86287025	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr15:86287023_86287025delAAG	ENST00000394518.2	+	36	8454_8456	c.8359_8361delAAG	c.(8359-8361)aagdel	p.K2788del	AKAP13_ENST00000361243.2_In_Frame_Del_p.K2792del|AKAP13_ENST00000394510.2_In_Frame_Del_p.K1033del|RP11-158M2.3_ENST00000558375.1_RNA|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2788	Interaction with ESR1.|Poly-Lys.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAGAAAAAAAAGAAGAACAAAA	0.527																																					Melanoma(94;603 1453 3280 32295 32951)	ENST00000394518.2																			0				NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						c.(8359-8361)del		A kinase (PRKA) anchor protein 13																																				SO:0001651	inframe_deletion	11214				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr15:86287023_86287025delAAG	M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.8359_8361delAAG	15.37:g.86287026_86287028delAAG	ENSP00000378026:p.Lys2788del					AKAP13_ENST00000394510.2_In_Frame_Del_p.K1033del|AKAP13_ENST00000361243.2_In_Frame_Del_p.K2792del|AKAP13_ENST00000560579.1_3'UTR	p.K2788del	NM_001270546.1|NM_007200.3	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN			36	8454_8456	+			2788			Interaction with ESR1.|Poly-Lys.		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	In_Frame_Del	DEL	ENST00000394518.2	37	c.8359_8361delAAG	CCDS32319.1																																																																																				0.527	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200		8	48						8	48	---	---	---	---
RP11-1166P10.6	0	broad.mit.edu	37	16	32095553	32095553	+	RNA	DEL	G	G	-			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr16:32095553delG	ENST00000566806.1	-	0	499																											CTGGGGCCCCGAGGGAGATGT	0.642																																						ENST00000566806.1																			0																																																			0							g.chr16:32095553delG																													16.37:g.32095553delG														0	499	-									RNA	DEL	ENST00000566806.1	37																																																																																						0.642	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			2	4						2	4	---	---	---	---
NF1	4763	broad.mit.edu	37	17	29486037	29486037	+	Frame_Shift_Del	DEL	G	G	-			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:29486037delG	ENST00000358273.4	+	3	597	c.214delG	c.(214-216)ggafs	p.G72fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.G72fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.G72fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	72					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAGAATATTTGGAGAAGCTGC	0.318			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												ENST00000358273.4			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.(214-216)gafs		neurofibromin 1							53.0	58.0	57.0					17																	29486037		2202	4299	6501	SO:0001589	frameshift_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29486037delG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.214delG	17.37:g.29486037delG	ENSP00000351015:p.Gly72fs	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Frame_Shift_Del_p.G72fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.G72fs	p.G72fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	3	597	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	72					O00662|Q14284|Q14930|Q14931|Q9UMK3	Frame_Shift_Del	DEL	ENST00000358273.4	37	c.214delG	CCDS42292.1																																																																																				0.318	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		18	16						18	16	---	---	---	---
