#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
DNM1P47	100216544	broad.mit.edu	37	15	102292770	102292770	+	RNA	SNP	C	C	T	rs199538020	byFrequency	TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr15:102292770C>T	ENST00000561463.1	+	0	816									DNM1 pseudogene 47																		AGCGGCGCGACGAGATGCTGC	0.597																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102292770C>T	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292770C>T														0	816	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.597	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	22	0	0	0	1	0	3	22				
ADAM21P1	145241	broad.mit.edu	37	14	70714144	70714144	+	RNA	SNP	A	A	G	rs111296958		TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr14:70714144A>G	ENST00000530196.1	-	0	374					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		AGAGCTTCTTAACCCTCATAT	0.502																																						ENST00000530196.1																			0																																																			145241							g.chr14:70714144A>G			14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714144A>G								NR_003951.1						0	374	-									RNA	SNP	ENST00000530196.1	37																																																																																						0.502	ADAM21P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000390451.1	NG_002467		5	75	0	0	0	1	0	5	75				
HMCN1	83872	broad.mit.edu	37	1	185892705	185892705	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr1:185892705T>G	ENST00000271588.4	+	8	1434	c.1205T>G	c.(1204-1206)tTt>tGt	p.F402C	HMCN1_ENST00000367492.2_Missense_Mutation_p.F402C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	402					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAGCTTTCTTTCTCAAAGTA	0.353																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(1204-1206)tTt>tGt		hemicentin 1							112.0	112.0	112.0					1																	185892705		2203	4299	6502	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:185892705T>G	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.1205T>G	1.37:g.185892705T>G	ENSP00000271588:p.Phe402Cys					HMCN1_ENST00000367492.2_Missense_Mutation_p.F402C	p.F402C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			8	1434	+			402					A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.1205T>G	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	T	19.50	3.838646	0.71373	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.64618	-0.1;-0.11	5.49	5.49	0.81192	.	0.046319	0.85682	D	0.000000	T	0.75882	0.3910	M	0.63843	1.955	0.58432	D	0.999993	D	0.89917	1.0	D	0.67231	0.95	T	0.78373	-0.2229	10	0.66056	D	0.02	.	15.6023	0.76634	0.0:0.0:0.0:1.0	.	402	Q96RW7	HMCN1_HUMAN	C	402	ENSP00000271588:F402C;ENSP00000356462:F402C	ENSP00000271588:F402C	F	+	2	0	HMCN1	184159328	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.812000	0.69194	2.083000	0.62718	0.482000	0.46254	TTT		0.353	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		9	67	0	0	0	1	0	9	67				
RBM47	54502	broad.mit.edu	37	4	40440293	40440293	+	Silent	SNP	C	C	T			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr4:40440293C>T	ENST00000381793.2	-	3	1014	c.618G>A	c.(616-618)gcG>gcA	p.A206A	RBM47_ENST00000295971.7_Silent_p.A206A|RBM47_ENST00000514014.1_Silent_p.A168A|RBM47_ENST00000319592.4_Silent_p.A206A|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.A206A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	206	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCATGGCAGCCGCGCGGTGGC	0.672																																						ENST00000319592.4																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(616-618)gcG>gcA		RNA binding motif protein 47							42.0	39.0	40.0					4																	40440293		2203	4298	6501	SO:0001819	synonymous_variant	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40440293C>T	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.618G>A	4.37:g.40440293C>T						RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381795.6_Silent_p.A206A|RBM47_ENST00000381793.2_Silent_p.A206A|RBM47_ENST00000295971.7_Silent_p.A206A|RBM47_ENST00000514014.1_Silent_p.A168A	p.A206A			A0AV96	RBM47_HUMAN			4	1327	-			206			RRM 2.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	Silent	SNP	ENST00000381793.2	37	c.618G>A	CCDS43223.1																																																																																				0.672	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	NM_019027		4	37	0	0	0	1	0	4	37				
KRT83	3889	broad.mit.edu	37	12	52714802	52714802	+	Nonsense_Mutation	SNP	G	G	T	rs570205730		TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr12:52714802G>T	ENST00000293670.3	-	1	380	c.318C>A	c.(316-318)tgC>tgA	p.C106*		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	106	Head.				aging (GO:0007568)|epidermis development (GO:0008544)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCTTCACGCACTGCGCGT	0.617																																					GBM(41;747 834 12702 24089 39393)|Esophageal Squamous(97;805 1414 12559 28198 31861)	ENST00000293670.3																			0				NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32						c.(316-318)tgC>tgA		keratin 83							196.0	173.0	181.0					12																	52714802		2203	4300	6503	SO:0001587	stop_gained	3889				epidermis development	keratin filament	structural molecule activity	g.chr12:52714802G>T	X99141	CCDS8823.1	12q13.13	2013-06-20	2006-07-17	2006-07-17	ENSG00000170523	ENSG00000170523		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6460	protein-coding gene	gene with protein product	"""hard keratin type II"""	602765	"""keratin, hair, basic, 3"""	KRTHB3		9084137, 16831889	Standard	NM_002282		Approved	Hb-3	uc001saf.2	P78385	OTTHUMG00000169632	ENST00000293670.3:c.318C>A	12.37:g.52714802G>T	ENSP00000293670:p.Cys106*						p.C106*	NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	1	380	-	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)		106			Head.		A1A4S9|B2RC21|Q6NT21|Q9NSB3	Nonsense_Mutation	SNP	ENST00000293670.3	37	c.318C>A	CCDS8823.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170263	0.94768	.	.	ENSG00000170523	ENST00000293670	.	.	.	4.69	1.82	0.25136	.	0.180281	0.26951	N	0.021677	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	0.4251	0.00462	0.2453:0.1922:0.3269:0.2356	.	.	.	.	X	106	.	ENSP00000293670:C106X	C	-	3	2	KRT83	51001069	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	-1.306000	0.02735	0.676000	0.31285	0.650000	0.86243	TGC		0.617	KRT83-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405182.1	NM_002282		5	159	1	0	3.59834e-05	1	3.8465e-05	5	159				
NAPB	63908	broad.mit.edu	37	20	23375633	23375633	+	Missense_Mutation	SNP	T	T	A	rs373515530		TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr20:23375633T>A	ENST00000377026.4	-	5	431	c.346A>T	c.(346-348)Agg>Tgg	p.R116W	NAPB_ENST00000432543.2_Missense_Mutation_p.R77W|NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000398425.3_Missense_Mutation_p.R22W	NM_001283018.1|NM_001283020.1|NM_022080.2	NP_001269947.1|NP_001269949.1|NP_071363.1	Q9H115	SNAB_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, beta	116					intracellular protein transport (GO:0006886)|regulation of synaptic vesicle priming (GO:0010807)|SNARE complex disassembly (GO:0035494)|synaptic transmission, glutamatergic (GO:0035249)	extracellular vesicular exosome (GO:0070062)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					ATTGTAAACCTTCCCTAGGGG	0.413																																						ENST00000377026.4																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12						c.(346-348)Agg>Tgg		N-ethylmaleimide-sensitive factor attachment protein, beta		T	TRP/ARG	0,4406		0,0,2203	137.0	121.0	126.0		346	3.1	1.0	20		126	1,8599	1.2+/-3.3	0,1,4299	no	missense	NAPB	NM_022080.2	101	0,1,6502	AA,AT,TT		0.0116,0.0,0.0077	probably-damaging	116/299	23375633	1,13005	2203	4300	6503	SO:0001583	missense	63908				intracellular protein transport|vesicle-mediated transport	membrane		g.chr20:23375633T>A	AK022817	CCDS13152.1, CCDS63241.1, CCDS63242.1, CCDS74710.1	20p12.3-p11.21	2008-08-01			ENSG00000125814	ENSG00000125814			15751	protein-coding gene	gene with protein product		611270				8455721	Standard	NM_022080		Approved	SNAP-BETA, SNAPB	uc002wta.3	Q9H115	OTTHUMG00000032062	ENST00000377026.4:c.346A>T	20.37:g.23375633T>A	ENSP00000366225:p.Arg116Trp					NAPB_ENST00000472855.1_5'UTR|NAPB_ENST00000432543.2_Missense_Mutation_p.R77W|NAPB_ENST00000398425.3_Missense_Mutation_p.R22W	p.R116W	NM_022080.2	NP_071363.1	Q9H115	SNAB_HUMAN			5	431	-	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)		116					B4DK44|Q4G0M0|Q4G187|Q5JXF9|Q8N3C4	Missense_Mutation	SNP	ENST00000377026.4	37	c.346A>T	CCDS13152.1	.	.	.	.	.	.	.	.	.	.	T	18.18	3.567842	0.65651	0.0	1.16E-4	ENSG00000125814	ENST00000377026;ENST00000398425;ENST00000432543;ENST00000431864	T;T;T	0.38401	1.14;1.14;1.14	5.46	3.06	0.35304	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	H	0.97291	3.975	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.78450	-0.2199	10	0.87932	D	0	-14.2689	12.2263	0.54461	0.0:0.0:0.4388:0.5612	.	77;22;120;116	B4DK44;Q4G0M0;B4DIV0;Q9H115	.;.;.;SNAB_HUMAN	W	116;22;77;73	ENSP00000366225:R116W;ENSP00000381459:R22W;ENSP00000413600:R77W	ENSP00000366225:R116W	R	-	1	2	NAPB	23323633	1.000000	0.71417	0.997000	0.53966	0.829000	0.46940	2.200000	0.42724	0.313000	0.23062	0.454000	0.30748	AGG		0.413	NAPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078317.2	NM_022080		18	24	0	0	0	1	0	18	24				
PDE4D	5144	broad.mit.edu	37	5	58273098	58273098	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr5:58273098G>T	ENST00000340635.6	-	12	1802	c.1627C>A	c.(1627-1629)Ctt>Att	p.L543I	PDE4D_ENST00000503258.1_Missense_Mutation_p.L413I|PDE4D_ENST00000502484.2_Missense_Mutation_p.L482I|PDE4D_ENST00000360047.5_Missense_Mutation_p.L407I|PDE4D_ENST00000317118.8_Missense_Mutation_p.L252I|PDE4D_ENST00000546160.1_Missense_Mutation_p.L482I|PDE4D_ENST00000358923.6_Missense_Mutation_p.L241I|PDE4D_ENST00000405755.2_Missense_Mutation_p.L421I|PDE4D_ENST00000507116.1_Missense_Mutation_p.L479I	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	543					adrenergic receptor signaling pathway (GO:0071875)|adrenergic receptor signaling pathway involved in positive regulation of heart rate (GO:0086024)|aging (GO:0007568)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|establishment of endothelial barrier (GO:0061028)|multicellular organism growth (GO:0035264)|negative regulation of heart contraction (GO:0045822)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-5 production (GO:0032754)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cell communication by electrical coupling involved in cardiac conduction (GO:1901844)|regulation of heart rate (GO:0002027)|regulation of receptor activity (GO:0010469)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|smooth muscle contraction (GO:0006939)|T cell receptor signaling pathway (GO:0050852)	calcium channel complex (GO:0034704)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|ATPase binding (GO:0051117)|beta-2 adrenergic receptor binding (GO:0031698)|cAMP binding (GO:0030552)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Caffeine(DB00201)|Dyphylline(DB00651)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Roflumilast(DB01656)	TCTTCCTGAAGCAATTTAAAG	0.368																																						ENST00000340635.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15						c.(1627-1629)Ctt>Att		phosphodiesterase 4D, cAMP-specific	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)						134.0	124.0	127.0					5																	58273098		1835	4092	5927	SO:0001583	missense	5144				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	g.chr5:58273098G>T		CCDS47213.1, CCDS54858.1, CCDS54859.1, CCDS56369.1, CCDS56370.1, CCDS56371.1, CCDS56372.1, CCDS56373.1	5q12	2010-06-24	2010-06-24				3.1.4.17	"""Phosphodiesterases"""	8783	protein-coding gene	gene with protein product	"""phosphodiesterase E3 dunce homolog (Drosophila)"""	600129	"""phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)"""	DPDE3			Standard	NM_006203		Approved		uc003jsa.2	Q08499		ENST00000340635.6:c.1627C>A	5.37:g.58273098G>T	ENSP00000345502:p.Leu543Ile					PDE4D_ENST00000358923.6_Missense_Mutation_p.L241I|PDE4D_ENST00000502484.2_Missense_Mutation_p.L482I|PDE4D_ENST00000546160.1_Missense_Mutation_p.L482I|PDE4D_ENST00000405755.2_Missense_Mutation_p.L421I|PDE4D_ENST00000507116.1_Missense_Mutation_p.L479I|PDE4D_ENST00000360047.5_Missense_Mutation_p.L407I|PDE4D_ENST00000317118.8_Missense_Mutation_p.L252I|PDE4D_ENST00000503258.1_Missense_Mutation_p.L413I	p.L543I	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	12	1802	-		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)	543					O43433|Q13549|Q13550|Q13551|Q7Z2L8|Q8IV84|Q8IVA9|Q8IVD2|Q8IVD3|Q96HL4|Q9HCX7	Missense_Mutation	SNP	ENST00000340635.6	37	c.1627C>A	CCDS47213.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452141	0.84209	.	.	ENSG00000113448	ENST00000340635;ENST00000356665;ENST00000360047;ENST00000507116;ENST00000358923;ENST00000317118;ENST00000503258;ENST00000405755;ENST00000502484;ENST00000546160;ENST00000505453	T;T;T;T;T;T;T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25;-1.25	5.56	5.56	0.83823	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.060455	0.64402	D	0.000002	D	0.86661	0.5986	M	0.71296	2.17	0.58432	D	0.999997	P;D;P;D;D;P;P;P	0.59767	0.938;0.98;0.938;0.986;0.986;0.938;0.692;0.817	D;D;D;D;D;D;P;P	0.77004	0.973;0.989;0.973;0.966;0.966;0.973;0.649;0.63	D	0.87189	0.2233	10	0.87932	D	0	.	13.9106	0.63864	0.0722:0.0:0.9278:0.0	.	482;543;479;406;421;413;318;252	Q08499-11;Q08499;Q08499-6;Q08499-2;Q08499-9;Q08499-10;Q08499-4;Q08499-8	.;PDE4D_HUMAN;.;.;.;.;.;.	I	543;412;407;479;241;252;413;421;482;482;241	ENSP00000345502:L543I;ENSP00000353152:L407I;ENSP00000424852:L479I;ENSP00000351800:L241I;ENSP00000321739:L252I;ENSP00000425605:L413I;ENSP00000384806:L421I;ENSP00000423094:L482I;ENSP00000442734:L482I;ENSP00000421013:L241I	ENSP00000321739:L252I	L	-	1	0	PDE4D	58308855	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.826000	0.86716	2.890000	0.99128	0.655000	0.94253	CTT		0.368	PDE4D-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367940.3			8	67	1	0	0.335167	1	0.335167	8	67				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	139	0	0	0	1	0	5	139				
AMBN	258	broad.mit.edu	37	4	71467156	71467156	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr4:71467156C>T	ENST00000322937.6	+	6	419	c.316C>T	c.(316-318)Cat>Tat	p.H106Y	AMBN_ENST00000449493.2_Intron	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	106					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TTTGCCTGTGCATCCCCCACC	0.488											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000322937.6																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(316-318)Cat>Tat		ameloblastin (enamel matrix protein)							123.0	129.0	127.0					4																	71467156		2203	4300	6503	SO:0001583	missense	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71467156C>T	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.316C>T	4.37:g.71467156C>T	ENSP00000313809:p.His106Tyr		OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1130	AMBN_ENST00000449493.2_Intron	p.H106Y	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		6	419	+			106					Q3B862|Q9H2X1|Q9H4L1	Missense_Mutation	SNP	ENST00000322937.6	37	c.316C>T	CCDS3543.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.198096	0.79015	.	.	ENSG00000178522	ENST00000322937;ENST00000538728	T	0.35421	1.31	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000001	T	0.60170	0.2248	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.62086	-0.6928	10	0.87932	D	0	-17.133	15.4216	0.75015	0.0:1.0:0.0:0.0	.	106	Q9NP70	AMBN_HUMAN	Y	106	ENSP00000313809:H106Y	ENSP00000313809:H106Y	H	+	1	0	AMBN	71501745	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.788000	0.55446	2.716000	0.92895	0.563000	0.77884	CAT		0.488	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		4	108	0	0	0	1	0	4	108				
GCHFR	2644	broad.mit.edu	37	15	41059517	41059517	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr15:41059517G>C	ENST00000260447.4	+	3	386	c.225G>C	c.(223-225)caG>caC	p.Q75H	DNAJC17_ENST00000558727.1_5'Flank|C15orf62_ENST00000344320.6_5'Flank|GCHFR_ENST00000558467.1_Missense_Mutation_p.Q58H|GCHFR_ENST00000559445.1_Missense_Mutation_p.Q64H|GCHFR_ENST00000558670.1_3'UTR|GCHFR_ENST00000559932.1_Missense_Mutation_p.Q58H	NM_005258.2	NP_005249.1	P30047	GFRP_HUMAN	GTP cyclohydrolase I feedback regulator	75					negative regulation of biosynthetic process (GO:0009890)|negative regulation of GTP cyclohydrolase I activity (GO:0043105)|neurotransmitter metabolic process (GO:0042133)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide metabolic process (GO:0046209)|protein heterooligomerization (GO:0051291)|regulation of nitric-oxide synthase activity (GO:0050999)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome (GO:0042470)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|protein complex (GO:0043234)	amino acid binding (GO:0016597)|enzyme inhibitor activity (GO:0004857)			endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)		GGGTGGGCCAGACGCTGGTGT	0.602																																						ENST00000558467.1																			0				endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)	6						c.(172-174)caG>caC		GTP cyclohydrolase I feedback regulator							114.0	105.0	108.0					15																	41059517		2203	4300	6503	SO:0001583	missense	2644				negative regulation of biosynthetic process|neurotransmitter metabolic process|nitric oxide biosynthetic process	cytosol|dendrite|melanosome|nuclear membrane		g.chr15:41059517G>C	U78190	CCDS10064.1	15q15	2004-01-19	2004-05-20		ENSG00000137880	ENSG00000137880			4194	protein-coding gene	gene with protein product		602437	"""GTP cyclohydrolase I feedback regulatory protein"""			8702680, 1286669	Standard	NM_005258		Approved	GFRP, HsT16933	uc001zmr.1	P30047	OTTHUMG00000130069	ENST00000260447.4:c.225G>C	15.37:g.41059517G>C	ENSP00000260447:p.Gln75His					GCHFR_ENST00000559932.1_Missense_Mutation_p.Q58H|GCHFR_ENST00000559445.1_Missense_Mutation_p.Q64H|GCHFR_ENST00000260447.4_Missense_Mutation_p.Q75H|GCHFR_ENST00000558670.1_3'UTR	p.Q58H			P30047	GFRP_HUMAN		GBM - Glioblastoma multiforme(113;2.58e-05)|COAD - Colon adenocarcinoma(120;0.149)|BRCA - Breast invasive adenocarcinoma(123;0.163)	2	396	+		all_cancers(109;3.3e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	75					B2R4L6|B7ZLM8|Q2M1Q2|Q99749	Missense_Mutation	SNP	ENST00000260447.4	37	c.174G>C	CCDS10064.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.831679	0.91036	.	.	ENSG00000137880	ENST00000260447	.	.	.	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.83626	0.5295	.	.	.	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.87578	0.997;0.998	D	0.84553	0.0645	8	0.66056	D	0.02	-21.6276	19.642	0.95762	0.0:0.0:1.0:0.0	.	64;75	B7ZLM8;P30047	.;GFRP_HUMAN	H	75	.	ENSP00000260447:Q75H	Q	+	3	2	GCHFR	38846809	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.152000	0.71812	2.815000	0.96918	0.561000	0.74099	CAG		0.602	GCHFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252360.2	NM_005258		29	48	0	0	0	1	0	29	48				
SH3TC1	54436	broad.mit.edu	37	4	8242527	8242527	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr4:8242527A>G	ENST00000245105.3	+	18	3923	c.3856A>G	c.(3856-3858)Atc>Gtc	p.I1286V	SH3TC1_ENST00000539824.1_Missense_Mutation_p.I1210V	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1286										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCTGGCCACCATCTACCACAA	0.612																																					NSCLC(145;2298 2623 35616 37297)	ENST00000539824.1																			0				NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(3628-3630)Atc>Gtc		SH3 domain and tetratricopeptide repeats 1							84.0	87.0	86.0					4																	8242527		2203	4300	6503	SO:0001583	missense	54436						binding	g.chr4:8242527A>G	AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3856A>G	4.37:g.8242527A>G	ENSP00000245105:p.Ile1286Val					SH3TC1_ENST00000245105.3_Missense_Mutation_p.I1286V	p.I1210V			Q8TE82	S3TC1_HUMAN			18	4002	+			1286					Q4W5G5	Missense_Mutation	SNP	ENST00000245105.3	37	c.3628A>G	CCDS3399.1	.	.	.	.	.	.	.	.	.	.	A	16.18	3.051497	0.55218	.	.	ENSG00000125089	ENST00000245105;ENST00000539824	T;T	0.76448	-1.02;-1.02	4.18	1.73	0.24493	Tetratricopeptide-like helical (1);	0.068244	0.64402	N	0.000020	T	0.73164	0.3552	L	0.54323	1.7	0.37746	D	0.925807	B	0.30511	0.282	B	0.39805	0.31	T	0.65784	-0.6084	9	.	.	.	-21.9087	8.2853	0.31924	0.8343:0.0:0.1657:0.0	.	1286	Q8TE82	S3TC1_HUMAN	V	1286;1210	ENSP00000245105:I1286V;ENSP00000441045:I1210V	.	I	+	1	0	SH3TC1	8293427	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	2.575000	0.46025	0.207000	0.20607	0.444000	0.29173	ATC		0.612	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206991.2	NM_018986		5	34	0	0	0	1	0	5	34				
PTPN14	5784	broad.mit.edu	37	1	214546172	214546172	+	Missense_Mutation	SNP	C	C	G			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr1:214546172C>G	ENST00000366956.5	-	16	3112	c.2918G>C	c.(2917-2919)gGc>gCc	p.G973A	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	973	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTCTGCCCCGCCAACCACCAC	0.527																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2917-2919)gGc>gCc		protein tyrosine phosphatase, non-receptor type 14							63.0	61.0	62.0					1																	214546172		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214546172C>G	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2918G>C	1.37:g.214546172C>G	ENSP00000355923:p.Gly973Ala					PTPN14_ENST00000543945.1_3'UTR	p.G973A	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	16	3112	-			973			Tyrosine-protein phosphatase.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.2918G>C	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	11.45	1.643596	0.29246	.	.	ENSG00000152104	ENST00000366956	D	0.83163	-1.69	5.4	2.21	0.28008	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.162448	0.56097	D	0.000033	T	0.78848	0.4348	L	0.49513	1.565	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.74150	-0.3758	10	0.39692	T	0.17	.	16.7287	0.85430	0.0:0.6401:0.3599:0.0	.	973	Q15678	PTN14_HUMAN	A	973	ENSP00000355923:G973A	ENSP00000355923:G973A	G	-	2	0	PTPN14	212612795	0.998000	0.40836	0.097000	0.21041	0.348000	0.29142	4.780000	0.62382	0.710000	0.31997	0.650000	0.86243	GGC		0.527	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		4	41	0	0	0	1	0	4	41				
TTN	7273	broad.mit.edu	37	2	179398050	179398050	+	Missense_Mutation	SNP	G	G	A	rs192001910		TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr2:179398050G>A	ENST00000591111.1	-	308	98593	c.98369C>T	c.(98368-98370)aCg>aTg	p.T32790M	TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T25491M|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T25366M|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25558M|TTN_ENST00000342992.6_Missense_Mutation_p.T31863M|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.T34431M|TTN-AS1_ENST00000588804.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32790	Ig-like 145.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAATAACCCGTGTCTTCAGG	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		21287	0.0		0.001	False		,,,				2504	0.0					ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(103291-103293)aCg>aTg		titin		G	MET/THR,MET/THR,MET/THR,MET/THR	0,3992		0,0,1996	75.0	74.0	74.0		76097,95588,76472,76673	5.7	1.0	2		74	10,8336		0,10,4163	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	81,81,81,81	0,10,6159	AA,AG,GG		0.1198,0.0,0.0811	probably-damaging,probably-damaging,probably-damaging,probably-damaging	25366/26927,31863/33424,25491/27052,25558/27119	179398050	10,12328	1996	4173	6169	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179398050G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.98369C>T	2.37:g.179398050G>A	ENSP00000465570:p.Thr32790Met					TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T31863M|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T32790M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T25366M|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T25491M|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T25558M|TTN-AS1_ENST00000456053.1_RNA	p.T34431M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		358	103516	-			32790					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.103292C>T		2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	16.18	3.049212	0.55110	0.0	0.001198	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.66280	-0.2;-0.2;-0.2;-0.2	5.67	5.67	0.87782	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69305	0.3096	L	0.41961	1.31	0.36384	D	0.862113	D;D;D;D	0.71674	0.998;0.998;0.998;0.998	P;P;P;P	0.58577	0.841;0.841;0.841;0.841	T	0.76397	-0.2974	9	0.87932	D	0	.	15.3087	0.74014	0.0:0.1806:0.8194:0.0	.	25366;25491;25558;32790	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	M	31863;25366;25558;25491;25363	ENSP00000343764:T31863M;ENSP00000434586:T25366M;ENSP00000340554:T25558M;ENSP00000352154:T25491M	ENSP00000340554:T25558M	T	-	2	0	TTN	179106296	1.000000	0.71417	0.978000	0.43139	0.982000	0.71751	5.301000	0.65727	2.688000	0.91661	0.555000	0.69702	ACG		0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	58	0	0	0	1	0	4	58				
CEP152	22995	broad.mit.edu	37	15	49033855	49033855	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr15:49033855C>T	ENST00000380950.2	-	26	4223	c.4036G>A	c.(4036-4038)Gca>Aca	p.A1346T	CEP152_ENST00000325747.5_Missense_Mutation_p.A1253T|CEP152_ENST00000399334.3_Missense_Mutation_p.A1290T	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1346					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AGTAATTTTGCCATTGTAGCA	0.353																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(4036-4038)Gca>Aca		centrosomal protein 152kDa							204.0	192.0	196.0					15																	49033855		1839	4098	5937	SO:0001583	missense	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49033855C>T	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.4036G>A	15.37:g.49033855C>T	ENSP00000370337:p.Ala1346Thr					CEP152_ENST00000399334.3_Missense_Mutation_p.A1290T|CEP152_ENST00000325747.5_Missense_Mutation_p.A1253T	p.A1346T	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	26	4223	-		all_lung(180;0.0428)	1290					E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	ENST00000380950.2	37	c.4036G>A	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	C	33	5.254549	0.95336	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	T;T;T	0.70869	-0.23;-0.52;-0.12	5.87	5.87	0.94306	.	0.066466	0.64402	D	0.000015	D	0.83413	0.5249	M	0.68593	2.085	0.58432	D	0.999998	D;D;D	0.76494	0.992;0.999;0.999	P;D;D	0.66847	0.856;0.947;0.947	D	0.83759	0.0213	10	0.72032	D	0.01	-8.8947	20.2147	0.98293	0.0:1.0:0.0:0.0	.	1253;1346;1290	O94986-1;E7ER66;O94986	.;.;CE152_HUMAN	T	1346;1253;1290	ENSP00000370337:A1346T;ENSP00000321000:A1253T;ENSP00000382271:A1290T	ENSP00000321000:A1253T	A	-	1	0	CEP152	46821147	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.247000	0.78257	2.785000	0.95823	0.591000	0.81541	GCA		0.353	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		4	94	0	0	0	1	0	4	94				
FLG2	388698	broad.mit.edu	37	1	152327955	152327955	+	Silent	SNP	G	G	A			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr1:152327955G>A	ENST00000388718.5	-	3	2379	c.2307C>T	c.(2305-2307)agC>agT	p.S769S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	769	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S769S(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGGCCATAGCTAGACTGAC	0.517																																						ENST00000388718.5																			1	Substitution - coding silent(1)	p.S769S(1)	kidney(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(2305-2307)agC>agT		filaggrin family member 2							412.0	337.0	362.0					1																	152327955		2203	4300	6503	SO:0001819	synonymous_variant	388698						calcium ion binding|structural molecule activity	g.chr1:152327955G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.2307C>T	1.37:g.152327955G>A						FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S769S	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2379	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		769			Ser-rich.		Q9H4U1	Silent	SNP	ENST00000388718.5	37	c.2307C>T	CCDS30861.1																																																																																				0.517	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		7	310	0	0	0	1	0	7	310				
SCUBE1	80274	broad.mit.edu	37	22	43606947	43606947	+	Silent	SNP	G	G	T			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr22:43606947G>T	ENST00000360835.4	-	18	2490	c.2364C>A	c.(2362-2364)acC>acA	p.T788T	Z82214.3_ENST00000420269.1_RNA	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	788					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GTGTGACGTTGGTGGAGCCAT	0.642																																						ENST00000360835.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2362-2364)acC>acA		signal peptide, CUB domain, EGF-like 1							204.0	181.0	189.0					22																	43606947		2203	4300	6503	SO:0001819	synonymous_variant	80274				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity	g.chr22:43606947G>T		CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.2364C>A	22.37:g.43606947G>T							p.T788T	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN			18	2490	-		all_neural(38;0.0414)|Ovarian(80;0.07)	788					Q5R336	Silent	SNP	ENST00000360835.4	37	c.2364C>A	CCDS14048.1																																																																																				0.642	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319582.3	NM_173050		15	32	1	0	3.52763e-06	1	4.05024e-06	15	32				
LRRC37A4P	55073	broad.mit.edu	37	17	43587576	43587576	+	RNA	SNP	A	A	G	rs2684618	byFrequency	TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr17:43587576A>G	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		tctgaaaagaaaagaaaaaaa	0.428													A|||	308	0.0615016	0.0204	0.0548	5008	,	,		16882	0.0685		0.1113	False		,,,				2504	0.0634					ENST00000253803.2																			0																																																			100294341							g.chr17:43587576A>G	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587576A>G						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.428	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	19	0	0	0	1	0	4	19				
GPR64	10149	broad.mit.edu	37	X	19027845	19027845	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chrX:19027845T>C	ENST00000379869.3	-	18	1484	c.1321A>G	c.(1321-1323)Ata>Gta	p.I441V	GPR64_ENST00000357544.3_Missense_Mutation_p.I411V|GPR64_ENST00000379876.1_Missense_Mutation_p.I417V|GPR64_ENST00000356606.4_Missense_Mutation_p.I427V|GPR64_ENST00000354791.3_Missense_Mutation_p.I425V|GPR64_ENST00000379878.3_Missense_Mutation_p.I425V|GPR64_ENST00000379873.2_Missense_Mutation_p.I441V|GPR64_ENST00000357991.3_Missense_Mutation_p.I438V|GPR64_ENST00000360279.4_Missense_Mutation_p.I419V|GPR64_ENST00000340581.3_Missense_Mutation_p.I411V	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	441					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GTTAGACTTATAGTCGTGTTT	0.393																																						ENST00000354791.3																			0				breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42						c.(1273-1275)Ata>Gta		G protein-coupled receptor 64							133.0	112.0	119.0					X																	19027845		2203	4300	6503	SO:0001583	missense	10149				neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity	g.chrX:19027845T>C	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.1321A>G	X.37:g.19027845T>C	ENSP00000369198:p.Ile441Val					GPR64_ENST00000356606.4_Missense_Mutation_p.I427V|GPR64_ENST00000360279.4_Missense_Mutation_p.I419V|GPR64_ENST00000357544.3_Missense_Mutation_p.I411V|GPR64_ENST00000379869.3_Missense_Mutation_p.I441V|GPR64_ENST00000357991.3_Missense_Mutation_p.I438V|GPR64_ENST00000379873.2_Missense_Mutation_p.I441V|GPR64_ENST00000379876.1_Missense_Mutation_p.I417V|GPR64_ENST00000379878.3_Missense_Mutation_p.I425V|GPR64_ENST00000340581.3_Missense_Mutation_p.I411V	p.I425V			Q8IZP9	GPR64_HUMAN			17	1514	-	Hepatocellular(33;0.183)		441					B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	ENST00000379869.3	37	c.1273A>G	CCDS43923.1	.	.	.	.	.	.	.	.	.	.	T	10.34	1.322015	0.23994	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.35973	1.35;1.47;1.47;1.48;1.48;1.51;1.48;1.51;1.51;1.28	6.17	5.0	0.66597	.	0.000000	0.64402	D	0.000005	T	0.26882	0.0658	L	0.35487	1.065	0.09310	N	0.999996	B;B;B;B;B;B;B;B;B;B;B	0.31790	0.296;0.232;0.34;0.057;0.057;0.34;0.34;0.34;0.34;0.057;0.23	B;B;B;B;B;B;B;B;B;B;B	0.36959	0.068;0.113;0.237;0.054;0.054;0.237;0.237;0.237;0.237;0.082;0.119	T	0.20874	-1.0262	10	0.32370	T	0.25	.	4.7154	0.12893	0.1435:0.1606:0.0:0.6959	.	411;403;411;417;425;441;419;427;438;441;425	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	V	441;425;425;417;411;441;419;438;427;411	ENSP00000369202:I441V;ENSP00000369207:I425V;ENSP00000346845:I425V;ENSP00000369205:I417V;ENSP00000350152:I411V;ENSP00000369198:I441V;ENSP00000353421:I419V;ENSP00000350680:I438V;ENSP00000349015:I427V;ENSP00000344972:I411V	ENSP00000344972:I411V	I	-	1	0	GPR64	18937766	0.948000	0.32251	0.727000	0.30756	0.877000	0.50540	1.084000	0.30828	0.919000	0.36945	0.486000	0.48141	ATA		0.393	GPR64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055970.2			3	81	0	0	0	1	0	3	81				
NF1	4763	broad.mit.edu	37	17	29541604	29541604	+	Splice_Site	SNP	G	G	T			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr17:29541604G>T	ENST00000358273.4	+	13	1910		c.e13+1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						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.?(5)	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)		CTTGCTTTGTGTAAGTATTTT	0.348			"""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)	13	Whole gene deletion(8)|Unknown(5)	p.0?(8)|p.?(5)	soft_tissue(7)|autonomic_ganglia(3)|central_nervous_system(2)|lung(1)	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	GRCh37	CD000959|CS040856|CS086407|CS993383	NF1	D|S		c.e13+1		neurofibromin 1							40.0	41.0	41.0					17																	29541604		2203	4298	6501	SO:0001630	splice_region_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.chr17:29541604G>T		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.1527+1G>T	17.37:g.29541604G>T		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site		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)	13	1910	+		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)						O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	SNP	ENST00000358273.4	37		CCDS42292.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.461406	0.84317	.	.	ENSG00000196712	ENST00000431387;ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.33	5.33	0.75918	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0231	0.92922	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NF1	26565730	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.216000	0.95154	2.493000	0.84123	0.591000	0.81541	.		0.348	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron	8	4	1	0	2.17888e-05	1	2.41233e-05	8	4				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	13	0	0	0	1	0	3	13				
ZNF324B	388569	broad.mit.edu	37	19	58963019	58963019	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr19:58963019G>A	ENST00000336614.4	+	0	49				ZNF324B_ENST00000391696.1_De_novo_Start_OutOfFrame|ZNF324B_ENST00000545523.1_De_novo_Start_InFrame|ZNF324B_ENST00000594214.1_De_novo_Start_OutOfFrame	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		AGGCCACACCGGTGGTCTGGG	0.706																																						ENST00000391696.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20								zinc finger protein 324B							30.0	34.0	33.0					19																	58963019		876	1991	2867			388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58963019G>A	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.-59G>A	19.37:g.58963019G>A						ZNF324B_ENST00000594214.1_De_novo_Start_OutOfFrame|ZNF324B_ENST00000545523.1_De_novo_Start_InFrame|ZNF324B_ENST00000336614.4_De_novo_Start_OutOfFrame				Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	0	6	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)						B2RTZ6|Q6ZMX8|Q6ZS42	Translation_Start_Site	SNP	ENST00000336614.4	37		CCDS33138.1																																																																																				0.706	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		8	31	0	0	0	1	0	8	31				
FLJ16171	441116	broad.mit.edu	37	5	174353430	174353431	+	lincRNA	INS	-	-	A			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr5:174353430_174353431insA	ENST00000377300.3	-	0	1281					NR_046113.1																						AATTGCCAGCCAAAAAAAACCA	0.371																																						ENST00000377300.3																			0																																																			441116							g.chr5:174353430_174353431insA																													5.37:g.174353438_174353438dupA								NR_046113.1						0	1281	-									RNA	INS	ENST00000377300.3	37																																																																																						0.371	CTC-281M20.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000371773.1			2	4						2	4	---	---	---	---
CASP8AP2	9994	broad.mit.edu	37	6	90556397	90556398	+	RNA	INS	-	-	T	rs572506102|rs375626099		TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr6:90556397_90556398insT	ENST00000551025.1	+	0	1492									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTCTAAtttccttttttttttt	0.421																																					Colon(187;1656 2025 17045 31481 39901)	ENST00000551025.1																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51								caspase 8 associated protein 2																																						9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90556397_90556398insT	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90556408_90556408dupT										Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	0	1492	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)							RNA	INS	ENST00000551025.1	37																																																																																						0.421	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667		2	4						2	4	---	---	---	---
DCHS1	8642	broad.mit.edu	37	11	6662746	6662748	+	In_Frame_Del	DEL	CAG	CAG	-	rs370785084|rs372916982		TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr11:6662746_6662748delCAG	ENST00000299441.3	-	2	508_510	c.97_99delCTG	c.(97-99)ctgdel	p.L33del		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCCCAGCCCCcagcagcagcagc	0.635																																						ENST00000299441.3																			1	Insertion - In frame(1)	p.L33_G34insL(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(97-99)del		dachsous cadherin-related 1				54,415,3471		8,0,38,73,269,1582						5.3	1.0		dbSNP_130	8	588,630,6394		117,13,341,89,439,2807	no	codingComplex	DCHS1	NM_003737.2		125,13,379,162,708,4389	A1A1,A1A2,A1R,A2A2,A2R,RR		16.0011,11.9036,14.6035				642,1045,9865				SO:0001651	inframe_deletion	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662746_6662748delCAG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.97_99delCTG	11.37:g.6662755_6662757delCAG	ENSP00000299441:p.Leu33del						p.L33del	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	508_510	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	33					O15098	In_Frame_Del	DEL	ENST00000299441.3	37	c.97_99delCTG	CCDS7771.1																																																																																				0.635	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		4	6						4	6	---	---	---	---
AATK	9625	broad.mit.edu	37	17	79104882	79104882	+	Frame_Shift_Del	DEL	C	C	-			TCGA-QR-A6GS-01A-11D-A35D-08	TCGA-QR-A6GS-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	201e21fd-e02c-4ff3-80cf-47f0baa4d832	6834e654-4e2d-4f56-b649-c02cf7511ca7	g.chr17:79104882delC	ENST00000326724.4	-	3	337	c.313delG	c.(313-315)gccfs	p.A105fs	AATK_ENST00000417379.1_Frame_Shift_Del_p.A2fs|AATK_ENST00000572339.1_5'Flank|MIR1250_ENST00000408098.1_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	105					brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGCTGCTTGGCCATGGGCAAG	0.711																																						ENST00000326724.4																			0				endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21						c.(313-315)ccfs		apoptosis-associated tyrosine kinase							11.0	17.0	15.0					17																	79104882		1971	4079	6050	SO:0001589	frameshift_variant	9625					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:79104882delC	AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.313delG	17.37:g.79104882delC	ENSP00000324196:p.Ala105fs					AATK_ENST00000417379.1_Frame_Shift_Del_p.A2fs	p.A105fs	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		3	337	-	all_neural(118;0.101)		105					O75136|Q6ZN31|Q86X28	Frame_Shift_Del	DEL	ENST00000326724.4	37	c.313delG	CCDS45807.1																																																																																				0.711	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256055.1	NM_004920		2	4						2	4	---	---	---	---
