#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
SORCS3	22986	broad.mit.edu	37	10	107022173	107022173	+	Silent	SNP	C	C	T			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr10:107022173C>T	ENST00000369701.3	+	26	3755	c.3528C>T	c.(3526-3528)aaC>aaT	p.N1176N		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1176					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		AAAGTGAAAACGCCCCCAAAA	0.512																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(3526-3528)aaC>aaT		sortilin-related VPS10 domain containing receptor 3							93.0	74.0	81.0					10																	107022173		2203	4300	6503	SO:0001819	synonymous_variant	22986					integral to membrane	neuropeptide receptor activity	g.chr10:107022173C>T	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.3528C>T	10.37:g.107022173C>T							p.N1176N	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	26	3755	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	1176					Q5VXF9|Q9NQJ2	Silent	SNP	ENST00000369701.3	37	c.3528C>T	CCDS7558.1																																																																																				0.512	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		3	22	0	0	0	1	0	3	22				
RBM45	129831	broad.mit.edu	37	2	178981032	178981032	+	Missense_Mutation	SNP	T	T	C			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr2:178981032T>C	ENST00000286070.5	+	2	436	c.344T>C	c.(343-345)gTt>gCt	p.V115A		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	115					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CACCGAGATGTTGAAGATGAA	0.343																																						ENST00000286070.5																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(343-345)gTt>gCt		RNA binding motif protein 45							139.0	140.0	140.0					2																	178981032		2203	4300	6503	SO:0001583	missense	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178981032T>C	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.344T>C	2.37:g.178981032T>C	ENSP00000286070:p.Val115Ala						p.V115A	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		2	436	+			115					Q6NYL0|Q8NFC9	Missense_Mutation	SNP	ENST00000286070.5	37	c.344T>C	CCDS33335.1	.	.	.	.	.	.	.	.	.	.	T	16.27	3.075794	0.55646	.	.	ENSG00000155636	ENST00000286070	D	0.92495	-3.05	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.86682	0.5991	L	0.29908	0.895	0.80722	D	1	B	0.14805	0.011	B	0.13407	0.009	T	0.82102	-0.0623	10	0.14656	T	0.56	-17.7954	15.6048	0.76658	0.0:0.0:0.0:1.0	.	115	Q8IUH3-3	.	A	115	ENSP00000286070:V115A	ENSP00000286070:V115A	V	+	2	0	RBM45	178689278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.839000	0.86812	2.279000	0.76181	0.533000	0.62120	GTT		0.343	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		13	57	0	0	0	1	0	13	57				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000342960.5_Silent_p.L384L			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Silent_p.L113L	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		5	128	0	0	0	1	0	5	128				
OR5T2	219464	broad.mit.edu	37	11	56000287	56000287	+	Silent	SNP	C	C	T	rs373172071		TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr11:56000287C>T	ENST00000313264.4	-	1	450	c.375G>A	c.(373-375)acG>acA	p.T125T		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	125			T -> M (in dbSNP:rs7122514).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TATTCTTTGTCGTAAAATCTA	0.403																																						ENST00000313264.4																			0				endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41						c.(373-375)acG>acA		olfactory receptor, family 5, subfamily T, member 2		C		0,4402		0,0,2201	107.0	100.0	102.0		375	1.9	0.0	11		102	1,8591	1.2+/-3.3	0,1,4295	no	coding-synonymous	OR5T2	NM_001004746.1		0,1,6496	TT,TC,CC		0.0116,0.0,0.0077		125/360	56000287	1,12993	2201	4296	6497	SO:0001819	synonymous_variant	219464				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56000287C>T	AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.375G>A	11.37:g.56000287C>T							p.T125T	NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN			1	450	-	Esophageal squamous(21;0.00448)		125		T -> M (in dbSNP:rs7122514).			B9EGX5|Q6IFC8	Silent	SNP	ENST00000313264.4	37	c.375G>A	CCDS31523.1																																																																																				0.403	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391598.1	NM_001004746		4	52	0	0	0	1	0	4	52				
CNTROB	116840	broad.mit.edu	37	17	7849197	7849197	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr17:7849197T>G	ENST00000563694.1	+	13	2811	c.1886T>G	c.(1885-1887)gTt>gGt	p.V629G	CNTROB_ENST00000380262.3_Missense_Mutation_p.V629G|CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Missense_Mutation_p.V629G	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	629	Pro-rich.|Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GCGCCTCCTGTTCTTTGCAGT	0.587																																						ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(1885-1887)gTt>gGt		centrobin, centrosomal BRCA2 interacting protein							142.0	136.0	138.0					17																	7849197		2203	4300	6503	SO:0001583	missense	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7849197T>G	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1886T>G	17.37:g.7849197T>G	ENSP00000456335:p.Val629Gly					CNTROB_ENST00000563694.1_Missense_Mutation_p.V629G|CNTROB_ENST00000565740.1_Missense_Mutation_p.V629G|CNTROB_ENST00000380255.3_3'UTR	p.V629G	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN			13	2811	+		Prostate(122;0.173)	629			Pro-rich.|Required for centrosome localization.		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Missense_Mutation	SNP	ENST00000563694.1	37	c.1886T>G	CCDS11126.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.455528	0.26161	.	.	ENSG00000170037	ENST00000380262	T	0.38401	1.14	5.48	-1.73	0.08081	.	1.063140	0.07389	N	0.888730	T	0.22704	0.0548	N	0.24115	0.695	0.09310	N	1	B;B;B	0.22983	0.032;0.032;0.078	B;B;B	0.24701	0.055;0.055;0.055	T	0.35649	-0.9780	10	0.72032	D	0.01	-0.0114	4.4853	0.11787	0.4289:0.1585:0.0:0.4126	.	629;629;629	Q8N137-3;Q8N137;Q8N137-2	.;CNTRB_HUMAN;.	G	629	ENSP00000369614:V629G	ENSP00000369614:V629G	V	+	2	0	CNTROB	7789922	0.000000	0.05858	0.000000	0.03702	0.720000	0.41350	-0.064000	0.11636	-0.170000	0.10816	0.459000	0.35465	GTT		0.587	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		4	77	0	0	0	1	0	4	77				
ABCA8	10351	broad.mit.edu	37	17	66890448	66890448	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr17:66890448A>C	ENST00000269080.2	-	21	2919	c.2782T>G	c.(2782-2784)Tac>Gac	p.Y928D	ABCA8_ENST00000430352.2_Missense_Mutation_p.Y968D|ABCA8_ENST00000586539.1_Missense_Mutation_p.Y968D	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	928					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GAAAAGCTGTAATTCTAAAAT	0.303																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.(2782-2784)Tac>Gac		ATP-binding cassette, sub-family A (ABC1), member 8							49.0	45.0	46.0					17																	66890448		2203	4300	6503	SO:0001583	missense	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66890448A>C	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.2782T>G	17.37:g.66890448A>C	ENSP00000269080:p.Tyr928Asp					ABCA8_ENST00000430352.2_Missense_Mutation_p.Y968D|ABCA8_ENST00000586539.1_Missense_Mutation_p.Y968D	p.Y928D	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			21	2919	-	Breast(10;4.56e-13)		928					A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	ENST00000269080.2	37	c.2782T>G	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	A	16.76	3.212142	0.58452	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225	D;D	0.87256	-2.23;-2.23	5.08	2.8	0.32819	.	0.416718	0.20391	N	0.093243	D	0.91205	0.7229	M	0.82193	2.58	0.09310	N	1	D;D;D;P;P	0.57571	0.975;0.98;0.957;0.949;0.727	P;D;P;P;P	0.63381	0.885;0.914;0.786;0.885;0.593	T	0.82112	-0.0618	10	0.38643	T	0.18	.	6.9963	0.24784	0.8166:0.0:0.1834:0.0	.	907;968;968;968;928	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	D	928;968;907	ENSP00000269080:Y928D;ENSP00000402814:Y968D	ENSP00000269080:Y928D	Y	-	1	0	ABCA8	64402043	0.001000	0.12720	0.039000	0.18376	0.595000	0.36748	0.622000	0.24433	0.459000	0.27016	0.533000	0.62120	TAC		0.303	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168		4	23	0	0	0	1	0	4	23				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	112	0	0	0	1	0	4	112				
MTHFD1L	25902	broad.mit.edu	37	6	151239756	151239756	+	Silent	SNP	C	C	T			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr6:151239756C>T	ENST00000367321.3	+	9	1210	c.936C>T	c.(934-936)ctC>ctT	p.L312L		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	312	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TTGGTGGACTCATTGAGGAAG	0.393																																						ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(934-936)ctC>ctT		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							232.0	229.0	230.0					6																	151239756		2203	4300	6503	SO:0001819	synonymous_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151239756C>T	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.936C>T	6.37:g.151239756C>T							p.L312L	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	9	1210	+		Ovarian(120;0.128)	312			Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Silent	SNP	ENST00000367321.3	37	c.936C>T	CCDS5228.1	.	.	.	.	.	.	.	.	.	.	C	3.753	-0.051142	0.07407	.	.	ENSG00000120254	ENST00000367308	.	.	.	5.69	3.85	0.44370	.	.	.	.	.	T	0.20536	0.0494	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.12293	-1.0553	4	.	.	.	.	10.0538	0.42233	0.132:0.6838:0.1841:0.0	.	.	.	.	L	273	.	.	S	+	2	0	MTHFD1L	151281449	0.001000	0.12720	0.007000	0.13788	0.118000	0.20060	0.336000	0.19823	1.374000	0.46228	-0.181000	0.13052	TCA		0.393	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		7	55	0	0	0	1	0	7	55				
LAMB4	22798	broad.mit.edu	37	7	107703339	107703339	+	Silent	SNP	C	C	T	rs576296424	byFrequency	TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr7:107703339C>T	ENST00000388781.3	-	23	3245	c.3162G>A	c.(3160-3162)ccG>ccA	p.P1054P	LAMB4_ENST00000388780.3_Silent_p.P1054P|LAMB4_ENST00000205386.4_Silent_p.P1054P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1054	Laminin EGF-like 11. {ECO:0000255|PROSITE-ProRule:PRU00460}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTGTGACATTCGGCAGACAAG	0.592													C|||	4	0.000798722	0.0	0.0	5008	,	,		19440	0.0		0.0	False		,,,				2504	0.0041					ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(3160-3162)ccG>ccA		laminin, beta 4							69.0	58.0	62.0					7																	107703339		2203	4300	6503	SO:0001819	synonymous_variant	22798				cell adhesion	basement membrane		g.chr7:107703339C>T	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.3162G>A	7.37:g.107703339C>T						LAMB4_ENST00000388780.3_Silent_p.P1054P|LAMB4_ENST00000205386.4_Silent_p.P1054P	p.P1054P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			23	3245	-			1054			Laminin EGF-like 11.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	ENST00000388781.3	37	c.3162G>A	CCDS34732.1																																																																																				0.592	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		3	26	0	0	0	1	0	3	26				
LHX9	56956	broad.mit.edu	37	1	197896792	197896792	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr1:197896792C>A	ENST00000367387.4	+	4	1230	c.805C>A	c.(805-807)Cgc>Agc	p.R269S	LHX9_ENST00000561173.1_Missense_Mutation_p.R275S|LHX9_ENST00000367390.3_Missense_Mutation_p.R260S|LHX9_ENST00000337020.2_Missense_Mutation_p.R269S|LHX9_ENST00000367391.1_Missense_Mutation_p.R260S	NM_020204.2	NP_064589.2	Q9NQ69	LHX9_HUMAN	LIM homeobox 9	269					cell proliferation (GO:0008283)|female gonad development (GO:0008585)|gonad morphogenesis (GO:0035262)|male gonad development (GO:0008584)|motor neuron axon guidance (GO:0008045)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						GAAGACCAAGCGCATGCGAAC	0.527																																						ENST00000367390.3																			0				endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						c.(778-780)Cgc>Agc		LIM homeobox 9							259.0	254.0	256.0					1																	197896792		2203	4300	6503	SO:0001583	missense	56956				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:197896792C>A	AJ277915	CCDS1393.1, CCDS30962.1	1q31.1	2011-06-20			ENSG00000143355	ENSG00000143355		"""Homeoboxes / LIM class"""	14222	protein-coding gene	gene with protein product		606066					Standard	NM_020204		Approved		uc001guk.1	Q9NQ69	OTTHUMG00000035656	ENST00000367387.4:c.805C>A	1.37:g.197896792C>A	ENSP00000356357:p.Arg269Ser					LHX9_ENST00000367391.1_Missense_Mutation_p.R260S|LHX9_ENST00000561173.1_Missense_Mutation_p.R275S|LHX9_ENST00000367387.4_Missense_Mutation_p.R269S|LHX9_ENST00000337020.2_Missense_Mutation_p.R269S	p.R260S	NM_001014434.1	NP_001014434.1	Q9NQ69	LHX9_HUMAN			5	805	+			269					Q5VUE2|Q5VUE3|Q5VUE6|Q86UH2|Q9BYU6|Q9NQ70	Missense_Mutation	SNP	ENST00000367387.4	37	c.778C>A	CCDS1393.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538541	0.85917	.	.	ENSG00000143355	ENST00000367391;ENST00000367390;ENST00000337020;ENST00000367387	D;D;D;D	0.96940	-4.18;-4.18;-4.18;-4.18	5.88	5.88	0.94601	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98890	0.9624	H	0.96333	3.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99050	1.0827	10	0.66056	D	0.02	.	20.2441	0.98394	0.0:1.0:0.0:0.0	.	269;260;260	Q9NQ69;Q9NQ69-3;Q9NQ69-2	LHX9_HUMAN;.;.	S	260;260;269;269	ENSP00000356361:R260S;ENSP00000356360:R260S;ENSP00000337969:R269S;ENSP00000356357:R269S	ENSP00000337969:R269S	R	+	1	0	LHX9	196163415	1.000000	0.71417	1.000000	0.80357	0.421000	0.31385	7.487000	0.81328	2.774000	0.95407	0.655000	0.94253	CGC		0.527	LHX9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086547.2	NM_020204		14	115	1	0	1.52009e-12	1	1.71497e-12	14	115				
PTPN1	5770	broad.mit.edu	37	20	49196444	49196444	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr20:49196444G>A	ENST00000371621.3	+	8	1243	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	RP4-530I15.9_ENST00000431019.1_RNA|PTPN1_ENST00000541713.1_Missense_Mutation_p.A284T	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	357					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|endoplasmic reticulum unfolded protein response (GO:0030968)|insulin receptor signaling pathway (GO:0008286)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|peptidyl-tyrosine dephosphorylation (GO:0035335)|peptidyl-tyrosine dephosphorylation involved in inactivation of protein kinase activity (GO:1990264)|platelet activation (GO:0030168)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|regulation of endocytosis (GO:0030100)|regulation of hepatocyte growth factor receptor signaling pathway (GO:1902202)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of signal transduction (GO:0009966)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|sorting endosome (GO:0097443)	enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Tiludronate(DB01133)	CTTAAATGCCGCACCCTACGG	0.498											OREG0026029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000371621.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16						c.(1069-1071)Gca>Aca		protein tyrosine phosphatase, non-receptor type 1	Clodronate(DB00720)|Tiludronate(DB01133)						41.0	47.0	45.0					20																	49196444		2203	4300	6503	SO:0001583	missense	5770				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding	g.chr20:49196444G>A		CCDS13430.1, CCDS63309.1	20q13.1-q13.2	2011-06-09			ENSG00000196396	ENSG00000196396		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9642	protein-coding gene	gene with protein product		176885		PTP1B		2164224	Standard	NM_002827		Approved		uc002xvl.3	P18031	OTTHUMG00000032729	ENST00000371621.3:c.1069G>A	20.37:g.49196444G>A	ENSP00000360683:p.Ala357Thr		OREG0026029	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	960	PTPN1_ENST00000541713.1_Missense_Mutation_p.A284T	p.A357T	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN			8	1243	+		Lung NSC(126;0.163)	357					Q5TGD8|Q9BQV9|Q9NQQ4	Missense_Mutation	SNP	ENST00000371621.3	37	c.1069G>A	CCDS13430.1	.	.	.	.	.	.	.	.	.	.	G	0.047	-1.261501	0.01445	.	.	ENSG00000196396	ENST00000371621;ENST00000541713	T;T	0.04862	4.13;3.54	0.418	-0.739	0.11120	.	1.268040	0.05446	N	0.548564	T	0.03477	0.0100	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.45366	-0.9266	9	0.13470	T	0.59	.	.	.	.	.	357	P18031	PTN1_HUMAN	T	357;284	ENSP00000360683:A357T;ENSP00000437732:A284T	ENSP00000360683:A357T	A	+	1	0	PTPN1	48629851	0.001000	0.12720	0.001000	0.08648	0.041000	0.13682	-1.432000	0.02430	-0.464000	0.06963	-0.459000	0.05422	GCA		0.498	PTPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079694.2			4	46	0	0	0	1	0	4	46				
SI	6476	broad.mit.edu	37	3	164739070	164739070	+	Silent	SNP	G	G	T			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr3:164739070G>T	ENST00000264382.3	-	27	3263	c.3201C>A	c.(3199-3201)atC>atA	p.I1067I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1067	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GATTTTCCTTGATTTCCACAT	0.343										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(3199-3201)atC>atA		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						180.0	182.0	181.0					3																	164739070		2203	4300	6503	SO:0001819	synonymous_variant	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164739070G>T	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.3201C>A	3.37:g.164739070G>T		HNSCC(35;0.089)					p.I1067I	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			27	3263	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	1067			Sucrase.		A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	ENST00000264382.3	37	c.3201C>A	CCDS3196.1																																																																																				0.343	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		5	94	1	0	0.014758	1	0.0158378	5	94				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	37	0	0	0	1	0	3	37				
CREB3L4	148327	broad.mit.edu	37	1	153941929	153941929	+	Missense_Mutation	SNP	C	C	G			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr1:153941929C>G	ENST00000368607.3	+	4	807	c.541C>G	c.(541-543)Ctg>Gtg	p.L181V	CREB3L4_ENST00000368603.1_Missense_Mutation_p.L181V|CREB3L4_ENST00000405694.3_Missense_Mutation_p.L34V|CREB3L4_ENST00000271889.4_Missense_Mutation_p.L181V|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000368601.1_Missense_Mutation_p.L181V|RP11-422P24.10_ENST00000608147.1_RNA|CREB3L4_ENST00000368600.3_Missense_Mutation_p.L161V|SLC39A1_ENST00000310483.6_5'Flank	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	cAMP responsive element binding protein 3-like 4	181					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGTACAACCCTGGTGAGTCT	0.517																																						ENST00000368607.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13						c.(541-543)Ctg>Gtg		cAMP responsive element binding protein 3-like 4							95.0	81.0	85.0					1																	153941929		2203	4300	6503	SO:0001583	missense	148327				response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:153941929C>G	AF394167	CCDS1056.1, CCDS58029.1	1q21.2	2013-01-10			ENSG00000143578	ENSG00000143578		"""basic leucine zipper proteins"""	18854	protein-coding gene	gene with protein product		607138					Standard	NM_130898		Approved	AIbZIP, CREB4, CREB3, hJAL, ATCE1	uc001fdr.3	Q8TEY5	OTTHUMG00000037159	ENST00000368607.3:c.541C>G	1.37:g.153941929C>G	ENSP00000357596:p.Leu181Val					CREB3L4_ENST00000368601.1_Missense_Mutation_p.L181V|CREB3L4_ENST00000405694.3_Missense_Mutation_p.L34V|CREB3L4_ENST00000468845.1_3'UTR|CREB3L4_ENST00000271889.4_Missense_Mutation_p.L181V|CREB3L4_ENST00000368600.3_Missense_Mutation_p.L161V|CREB3L4_ENST00000368603.1_Missense_Mutation_p.L181V	p.L181V	NM_001255978.1|NM_001255980.1|NM_130898.3	NP_001242907.1|NP_001242909.1|NP_570968.1	Q8TEY5	CR3L4_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		4	807	+	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		181					D3DV62|Q5T4L0|Q86YW6	Missense_Mutation	SNP	ENST00000368607.3	37	c.541C>G	CCDS1056.1	.	.	.	.	.	.	.	.	.	.	C	13.69	2.311919	0.40895	.	.	ENSG00000143578	ENST00000405694;ENST00000449724;ENST00000368607;ENST00000271889;ENST00000368601;ENST00000368603;ENST00000368600;ENST00000431292	T;T;T;T;T;T;T;T	0.78126	-1.15;-0.09;-0.16;-0.16;0.86;-0.16;-0.14;0.45	4.9	3.98	0.46160	.	0.449872	0.19862	N	0.104402	T	0.49490	0.1560	L	0.52364	1.645	0.30838	N	0.735969	B;B	0.27853	0.084;0.191	B;B	0.25506	0.042;0.061	T	0.31916	-0.9926	10	0.09843	T	0.71	.	10.6496	0.45640	0.1898:0.8102:0.0:0.0	.	161;181	Q5T4L0;Q8TEY5	.;CR3L4_HUMAN	V	34;161;181;181;181;181;161;181	ENSP00000385104:L34V;ENSP00000391847:L161V;ENSP00000357596:L181V;ENSP00000271889:L181V;ENSP00000357590:L181V;ENSP00000357592:L181V;ENSP00000357589:L161V;ENSP00000402308:L181V	ENSP00000271889:L181V	L	+	1	2	CREB3L4	152208553	0.931000	0.31567	0.971000	0.41717	0.835000	0.47333	1.663000	0.37429	1.276000	0.44395	0.561000	0.74099	CTG		0.517	CREB3L4-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090291.1	NM_130898		5	39	0	0	0	1	0	5	39				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		3	30	0	0	0	1	0	3	30				
SPTA1	6708	broad.mit.edu	37	1	158592846	158592846	+	Missense_Mutation	SNP	C	C	T	rs199993378		TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr1:158592846C>T	ENST00000368147.4	-	43	6227	c.6047G>A	c.(6046-6048)cGc>cAc	p.R2016H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2016					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R2016H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGTTCCCAGCGCTTCAGCAG	0.478																																						ENST00000368148.3																			1	Substitution - Missense(1)	p.R2016H(1)	lung(1)	NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(6046-6048)cGc>cAc		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)		C	HIS/ARG	3,3867		0,3,1932	231.0	230.0	231.0		6047	-1.5	0.6	1		231	1,8273		0,1,4136	yes	missense	SPTA1	NM_003126.2	29	0,4,6068	TT,TC,CC		0.0121,0.0775,0.0329	benign	2016/2420	158592846	4,12140	1935	4137	6072	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158592846C>T	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6047G>A	1.37:g.158592846C>T	ENSP00000357129:p.Arg2016His					SPTA1_ENST00000461624.1_5'UTR|SPTA1_ENST00000368147.3_Missense_Mutation_p.R2013H	p.R2016H	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			43	6227	-	all_hematologic(112;0.0378)		2016					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.6047G>A	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	10.22	1.288856	0.23478	7.75E-4	1.21E-4	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.40476	1.03;1.03	4.78	-1.49	0.08718	.	.	.	.	.	T	0.17619	0.0423	L	0.56340	1.77	0.38903	D	0.957367	P	0.47106	0.89	B	0.41723	0.365	T	0.10132	-1.0643	9	0.40728	T	0.16	.	5.6431	0.17575	0.1234:0.5367:0.0:0.3399	.	2016	P02549	SPTA1_HUMAN	H	2016;2013	ENSP00000357130:R2016H;ENSP00000357129:R2013H	ENSP00000357129:R2013H	R	-	2	0	SPTA1	156859470	0.999000	0.42202	0.633000	0.29310	0.020000	0.10135	0.741000	0.26202	-0.360000	0.08138	-0.136000	0.14681	CGC		0.478	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		21	174	0	0	0	1	0	21	174				
MYO15A	51168	broad.mit.edu	37	17	18047889	18047889	+	Missense_Mutation	SNP	G	G	A	rs369781492		TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr17:18047889G>A	ENST00000205890.5	+	29	6594	c.6256G>A	c.(6256-6258)Gtg>Atg	p.V2086M	snoU13_ENST00000459354.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2086	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.|Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCAGAAGCCGTGAGCATCTT	0.607																																						ENST00000205890.5																			0				breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99						c.(6256-6258)Gtg>Atg		myosin XVA		G	MET/VAL	0,4072		0,0,2036	81.0	93.0	89.0		6256	-3.5	0.0	17		89	2,8388		0,2,4193	no	missense	MYO15A	NM_016239.3	21	0,2,6229	AA,AG,GG		0.0238,0.0,0.016	possibly-damaging	2086/3531	18047889	2,12460	2036	4195	6231	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18047889G>A	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.6256G>A	17.37:g.18047889G>A	ENSP00000205890:p.Val2086Met						p.V2086M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN			29	6594	+	all_neural(463;0.228)		2086			MyTH4 1.|Tail.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.6256G>A	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	G	10.14	1.269499	0.23221	0.0	2.38E-4	ENSG00000091536	ENST00000205890	D	0.89415	-2.51	5.47	-3.5	0.04710	MyTH4 domain (2);	.	.	.	.	D	0.83431	0.5253	M	0.76838	2.35	0.40525	D	0.980877	P	0.36144	0.539	B	0.21917	0.037	T	0.77760	-0.2467	9	0.66056	D	0.02	.	8.2448	0.31682	0.3627:0.4817:0.1556:0.0	.	2086	Q9UKN7	MYO15_HUMAN	M	2086	ENSP00000205890:V2086M	ENSP00000205890:V2086M	V	+	1	0	MYO15A	17988614	0.000000	0.05858	0.009000	0.14445	0.415000	0.31203	-0.412000	0.07132	-0.013000	0.14199	0.655000	0.94253	GTG		0.607	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		5	30	0	0	0	1	0	5	30				
ZNF398	57541	broad.mit.edu	37	7	148876613	148876613	+	Missense_Mutation	SNP	G	G	A	rs146764677		TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr7:148876613G>A	ENST00000475153.1	+	6	1916	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	ZNF398_ENST00000491174.1_Missense_Mutation_p.R379H|ZNF398_ENST00000420008.2_Missense_Mutation_p.R379H|ZNF398_ENST00000540950.1_Missense_Mutation_p.R555H|ZNF398_ENST00000483892.1_Missense_Mutation_p.R379H|ZNF398_ENST00000426851.2_Missense_Mutation_p.R379H|ZNF398_ENST00000335901.4_Missense_Mutation_p.R379H			Q8TD17	ZN398_HUMAN	zinc finger protein 398	550					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			AGCTTCATCCGCAAGCACCAC	0.597																																						ENST00000420008.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(1135-1137)cGc>cAc		zinc finger protein 398		G	HIS/ARG,HIS/ARG	0,4406		0,0,2203	94.0	84.0	87.0		1136,1649	5.3	1.0	7	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ZNF398	NM_020781.3,NM_170686.2	29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	379/472,550/643	148876613	1,13005	2203	4300	6503	SO:0001583	missense	0				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148876613G>A	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1649G>A	7.37:g.148876613G>A	ENSP00000420418:p.Arg550His					ZNF398_ENST00000483892.1_Missense_Mutation_p.R379H|ZNF398_ENST00000426851.2_Missense_Mutation_p.R379H|ZNF398_ENST00000475153.1_Missense_Mutation_p.R550H|ZNF398_ENST00000540950.1_Missense_Mutation_p.R555H|ZNF398_ENST00000491174.1_Missense_Mutation_p.R379H|ZNF398_ENST00000335901.4_Missense_Mutation_p.R379H	p.R379H	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		6	1924	+	Melanoma(164;0.15)		550					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.1136G>A	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592498	0.66219	0.0	1.16E-4	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.07327	3.2;3.2;3.2;3.2;3.2;3.2;3.2	5.26	5.26	0.73747	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.51477	D	0.000085	T	0.16938	0.0407	L	0.35723	1.085	0.36877	D	0.889193	D;D	0.76494	0.962;0.999	P;D	0.68943	0.613;0.961	T	0.02646	-1.1129	10	0.52906	T	0.07	-32.9599	9.901	0.41348	0.0923:0.0:0.9077:0.0	.	555;550	B4DXA9;Q8TD17	.;ZN398_HUMAN	H	379;379;550;379;379;555;379	ENSP00000389972:R379H;ENSP00000416751:R379H;ENSP00000420418:R550H;ENSP00000418564:R379H;ENSP00000419391:R379H;ENSP00000439340:R555H;ENSP00000338984:R379H	ENSP00000338984:R379H	R	+	2	0	ZNF398	148507546	0.002000	0.14202	1.000000	0.80357	0.997000	0.91878	0.416000	0.21198	2.458000	0.83093	0.655000	0.94253	CGC		0.597	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			3	54	0	0	0	1	0	3	54				
GALNT18	374378	broad.mit.edu	37	11	11362459	11362459	+	Silent	SNP	G	G	A	rs577502852		TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr11:11362459G>A	ENST00000227756.4	-	7	1596	c.1185C>T	c.(1183-1185)acC>acT	p.T395T		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	395					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										GGACATGGGCGGTGAGGTCCT	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18390	0.0		0.0	False		,,,				2504	0.0					ENST00000227756.4																			0											c.(1183-1185)acC>acT		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18							189.0	182.0	184.0					11																	11362459		2201	4294	6495	SO:0001819	synonymous_variant	374378							g.chr11:11362459G>A	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1185C>T	11.37:g.11362459G>A							p.T395T	NM_198516.2	NP_940918.2					7	1596	-								O95903|Q8NDY9	Silent	SNP	ENST00000227756.4	37	c.1185C>T	CCDS7807.1																																																																																				0.582	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385848.1	NM_198516		4	139	0	0	0	1	0	4	139				
ZDHHC4	55146	broad.mit.edu	37	7	6628405	6628405	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr7:6628405G>A	ENST00000396706.2	+	8	1342	c.899G>A	c.(898-900)cGt>cAt	p.R300H	C7orf26_ENST00000344417.5_5'Flank|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R300H|C7orf26_ENST00000359073.5_5'Flank|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R300H|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R300H|ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R300H|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R300H			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	300						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R300H(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGTGCCAGCGTTGTCCCCTT	0.577																																						ENST00000396706.2																			2	Substitution - Missense(2)	p.R300H(2)	upper_aerodigestive_tract(1)|prostate(1)	breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(898-900)cGt>cAt		zinc finger, DHHC-type containing 4							122.0	109.0	113.0					7																	6628405		2203	4300	6503	SO:0001583	missense	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6628405G>A	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.899G>A	7.37:g.6628405G>A	ENSP00000379934:p.Arg300His					ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R300H|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R300H|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R300H|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R300H|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R300H	p.R300H			Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	8	1342	+		Ovarian(82;0.232)	300					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Missense_Mutation	SNP	ENST00000396706.2	37	c.899G>A	CCDS5352.1	.	.	.	.	.	.	.	.	.	.	G	6.659	0.490085	0.12702	.	.	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000396706	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	4.53	-8.02	0.01118	.	0.684599	0.14827	N	0.296085	T	0.07234	0.0183	N	0.02158	-0.66	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	10	0.02654	T	1	-20.1553	3.7761	0.08660	0.3325:0.1185:0.4324:0.1166	.	300	Q9NPG8	ZDHC4_HUMAN	H	300	ENSP00000385027:R300H;ENSP00000379941:R300H;ENSP00000379935:R300H;ENSP00000337475:R300H;ENSP00000379937:R300H;ENSP00000379934:R300H	ENSP00000337475:R300H	R	+	2	0	ZDHHC4	6594930	0.000000	0.05858	0.000000	0.03702	0.226000	0.24999	-0.511000	0.06321	-1.175000	0.02751	-1.099000	0.02127	CGT		0.577	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106		5	54	0	0	0	1	0	5	54				
FGFR3	2261	broad.mit.edu	37	4	1808052	1808052	+	Silent	SNP	C	C	T			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr4:1808052C>T	ENST00000260795.2	+	14	2130	c.2028C>T	c.(2026-2028)gaC>gaT	p.D676D	FGFR3_ENST00000352904.1_Silent_p.D564D|FGFR3_ENST00000412135.2_Silent_p.D564D|FGFR3_ENST00000440486.2_Silent_p.D676D|FGFR3_ENST00000340107.4_Silent_p.D678D|FGFR3_ENST00000481110.2_Intron			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	676	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACCAGAGTGACGTGTACGTGT	0.667		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													ENST00000340107.4		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		0				NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(2032-2034)gaC>gaT		fibroblast growth factor receptor 3	Palifermin(DB00039)						52.0	47.0	49.0					4																	1808052		2203	4300	6503	SO:0001819	synonymous_variant	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1808052C>T	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.2028C>T	4.37:g.1808052C>T						FGFR3_ENST00000481110.2_Intron|FGFR3_ENST00000352904.1_Silent_p.D564D|FGFR3_ENST00000260795.2_Silent_p.D676D|FGFR3_ENST00000412135.2_Silent_p.D564D|FGFR3_ENST00000440486.2_Silent_p.D676D	p.D678D	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		15	2290	+		Breast(71;0.212)|all_epithelial(65;0.241)	676			Protein kinase.		D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Silent	SNP	ENST00000260795.2	37	c.2034C>T	CCDS3353.1																																																																																				0.667	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142		3	34	0	0	0	1	0	3	34				
RP1	6101	broad.mit.edu	37	8	55533894	55533894	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr8:55533894G>A	ENST00000220676.1	+	2	516	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	123					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCCCGTCGGCGCCCGCGGCCC	0.706																																					Colon(91;1014 1389 7634 14542 40420)	ENST00000220676.1																			0				NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169						c.(367-369)cGc>cAc		retinitis pigmentosa 1 (autosomal dominant)							29.0	35.0	33.0					8																	55533894		2201	4297	6498	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55533894G>A	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.368G>A	8.37:g.55533894G>A	ENSP00000220676:p.Arg123His						p.R123H	NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		2	516	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	123						Missense_Mutation	SNP	ENST00000220676.1	37	c.368G>A	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	G	19.88	3.909128	0.72868	.	.	ENSG00000104237	ENST00000220676	D	0.86562	-2.14	4.9	2.71	0.32032	Doublecortin domain (2);	0.180201	0.27482	N	0.019173	D	0.89420	0.6710	M	0.72118	2.19	0.38844	D	0.956135	D	0.89917	1.0	D	0.65874	0.939	D	0.87634	0.2518	10	0.66056	D	0.02	-0.2532	2.2271	0.03987	0.319:0.3255:0.3555:0.0	.	123	P56715	RP1_HUMAN	H	123	ENSP00000220676:R123H	ENSP00000220676:R123H	R	+	2	0	RP1	55696447	1.000000	0.71417	0.867000	0.34043	0.449000	0.32228	2.149000	0.42244	1.020000	0.39573	0.650000	0.86243	CGC		0.706	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		5	68	0	0	0	1	0	5	68				
KIF26B	55083	broad.mit.edu	37	1	245851624	245851624	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr1:245851624C>T	ENST00000407071.2	+	12	5779	c.5339C>T	c.(5338-5340)aCg>aTg	p.T1780M	KIF26B_ENST00000366518.4_Missense_Mutation_p.T1399M	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1780	Ser-rich.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GGGAAGCACACGCCCTGGTCC	0.711																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(4195-4197)aCg>aTg		kinesin family member 26B							7.0	8.0	7.0					1																	245851624		1682	3597	5279	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245851624C>T	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.5339C>T	1.37:g.245851624C>T	ENSP00000385545:p.Thr1780Met					KIF26B_ENST00000407071.2_Missense_Mutation_p.T1780M	p.T1399M			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	4300	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		1780					Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.4196C>T	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	T	10.54	1.379462	0.24944	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76186	-1.0;-1.0	5.44	3.13	0.36017	.	.	.	.	.	T	0.44307	0.1287	N	0.01109	-1.01	0.09310	N	0.999998	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.0	T	0.33523	-0.9865	9	0.31617	T	0.26	.	9.1898	0.37193	0.0:0.208:0.0:0.792	.	1399;1780	B7WPD9;Q2KJY2	.;KI26B_HUMAN	M	1780;1399;1396	ENSP00000385545:T1780M;ENSP00000355475:T1399M	ENSP00000355475:T1399M	T	+	2	0	KIF26B	243918247	1.000000	0.71417	0.998000	0.56505	0.724000	0.41520	2.777000	0.47717	0.072000	0.16694	-0.521000	0.04368	ACG		0.711	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		4	22	0	0	0	1	0	4	22				
USP6	9098	broad.mit.edu	37	17	5048842	5048842	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr17:5048842C>A	ENST00000574788.1	+	27	4365	c.2135C>A	c.(2134-2136)cCa>cAa	p.P712Q	USP6_ENST00000250066.6_Missense_Mutation_p.P712Q|USP6_ENST00000304328.5_Missense_Mutation_p.P395Q|USP6_ENST00000332776.4_Missense_Mutation_p.P712Q			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	712	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTGCCACTACCAATGGACAGT	0.348			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(2134-2136)cCa>cAa		ubiquitin specific peptidase 6 (Tre-2 oncogene)							97.0	87.0	90.0					17																	5048842		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5048842C>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.2135C>A	17.37:g.5048842C>A	ENSP00000460380:p.Pro712Gln					USP6_ENST00000332776.4_Missense_Mutation_p.P712Q|USP6_ENST00000304328.5_Missense_Mutation_p.P395Q|USP6_ENST00000250066.6_Missense_Mutation_p.P712Q	p.P712Q			P35125	UBP6_HUMAN			27	4365	+			712					Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.2135C>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	C	14.95	2.687680	0.48097	.	.	ENSG00000129204	ENST00000332776;ENST00000250066;ENST00000304328	T;T;T	0.37584	1.19;3.89;3.89	2.55	2.55	0.30701	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.63019	-0.6730	10	0.87932	D	0	.	10.8671	0.46862	0.0:1.0:0.0:0.0	.	395;712	P35125-2;P35125	.;UBP6_HUMAN	Q	712;712;395	ENSP00000328010:P712Q;ENSP00000250066:P712Q;ENSP00000305473:P395Q	ENSP00000250066:P712Q	P	+	2	0	USP6	4989566	1.000000	0.71417	1.000000	0.80357	0.343000	0.28985	7.544000	0.82117	1.433000	0.47394	0.194000	0.17425	CCA		0.348	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		6	57	1	0	0.0215528	1	0.0225791	6	57				
MAGI2	9863	broad.mit.edu	37	7	77973249	77973249	+	Silent	SNP	G	G	T			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr7:77973249G>T	ENST00000354212.4	-	9	1507	c.1254C>A	c.(1252-1254)tcC>tcA	p.S418S	MAGI2_ENST00000535697.1_Silent_p.S255S|MAGI2_ENST00000419488.1_Silent_p.S418S|MAGI2_ENST00000522391.1_Silent_p.S418S|MAGI2_ENST00000536571.1_Silent_p.S250S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	418					cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|glomerular visceral epithelial cell development (GO:0072015)|mitotic cell cycle arrest (GO:0071850)|negative regulation of activin receptor signaling pathway (GO:0032926)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein kinase B signaling (GO:0051898)|nerve growth factor signaling pathway (GO:0038180)|planar cell polarity pathway involved in axis elongation (GO:0003402)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of receptor internalization (GO:0002092)|protein heterooligomerization (GO:0051291)|receptor clustering (GO:0043113)|SMAD protein signal transduction (GO:0060395)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|late endosome (GO:0005770)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)|synapse (GO:0045202)|tight junction (GO:0005923)	beta-1 adrenergic receptor binding (GO:0031697)|phosphatase binding (GO:0019902)|receptor signaling complex scaffold activity (GO:0030159)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|type II activin receptor binding (GO:0070699)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CCTTCAACTGGGATGCATCCC	0.443																																						ENST00000354212.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84						c.(1252-1254)tcC>tcA		membrane associated guanylate kinase, WW and PDZ domain containing 2							108.0	90.0	97.0					7																	77973249		2203	4300	6503	SO:0001819	synonymous_variant	9863					cell junction|synapse|synaptosome	phosphatase binding	g.chr7:77973249G>T	AB014605	CCDS5594.1, CCDS75623.1	7q21	2005-08-09			ENSG00000187391	ENSG00000187391			18957	protein-coding gene	gene with protein product		606382				10681527, 9734811	Standard	XM_005250725		Approved	AIP1, ARIP1, KIAA0705, ACVRIP1, MAGI-2	uc003ugx.3	Q86UL8	OTTHUMG00000130697	ENST00000354212.4:c.1254C>A	7.37:g.77973249G>T						MAGI2_ENST00000522391.1_Silent_p.S418S|MAGI2_ENST00000419488.1_Silent_p.S418S|MAGI2_ENST00000535697.1_Silent_p.S255S|MAGI2_ENST00000536571.1_Silent_p.S250S	p.S418S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN			9	1507	-		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)	418					A4D1C1|A7E2C3|O60434|O60510|Q86UI7|Q9NP44|Q9UDQ5|Q9UDU1	Silent	SNP	ENST00000354212.4	37	c.1254C>A	CCDS5594.1																																																																																				0.443	MAGI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253197.3	NM_012301		5	35	1	0	0.217242	1	0.222294	5	35				
TUBB8P7	197331	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	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																																						ENST00000567960.1																			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_ENST00000564451.1_RNA								0	1249	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.537	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	77	0	0	0	1	0	4	77				
FRMD6	122786	broad.mit.edu	37	14	52179204	52179204	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr14:52179204T>G	ENST00000344768.5	+	9	980	c.784T>G	c.(784-786)Tta>Gta	p.L262V	FRMD6_ENST00000395718.2_Missense_Mutation_p.L254V|FRMD6_ENST00000356218.4_Missense_Mutation_p.L254V|FRMD6_ENST00000554167.1_Missense_Mutation_p.L185V			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	262	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TTCACAGAATTTAGATGAAGA	0.303																																						ENST00000395718.2																			0				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(760-762)Tta>Gta		FERM domain containing 6							84.0	86.0	86.0					14																	52179204		2202	4295	6497	SO:0001583	missense	122786					cytoskeleton|mitochondrion|plasma membrane	binding	g.chr14:52179204T>G	BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.784T>G	14.37:g.52179204T>G	ENSP00000343899:p.Leu262Val					FRMD6_ENST00000356218.4_Missense_Mutation_p.L254V|FRMD6_ENST00000554167.1_Missense_Mutation_p.L185V|FRMD6_ENST00000344768.5_Missense_Mutation_p.L262V	p.L254V	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN			9	1045	+	all_epithelial(31;0.0163)|Breast(41;0.089)		262			FERM.		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	ENST00000344768.5	37	c.760T>G	CCDS58318.1	.	.	.	.	.	.	.	.	.	.	T	1.653	-0.513514	0.04200	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.61	0.0621	0.14343	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.316636	0.30365	N	0.009786	T	0.38026	0.1025	N	0.00075	-2.25	0.21445	N	0.999685	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.52668	-0.8545	10	0.23302	T	0.38	.	1.5595	0.02592	0.1203:0.2249:0.2181:0.4367	.	185;262;254	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	V	254;254;262;185	ENSP00000348550:L254V;ENSP00000379068:L254V;ENSP00000343899:L262V;ENSP00000451977:L185V	ENSP00000343899:L262V	L	+	1	2	FRMD6	51248954	0.990000	0.36364	0.999000	0.59377	0.915000	0.54546	0.538000	0.23160	0.130000	0.18549	0.482000	0.46254	TTA		0.303	FRMD6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276881.1	NM_152330		4	16	0	0	0	1	0	4	16				
SIRPB2	284759	broad.mit.edu	37	20	1459194	1459194	+	Silent	SNP	C	C	A			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr20:1459194C>A	ENST00000359801.3	-	3	546	c.510G>T	c.(508-510)ggG>ggT	p.G170G	SIRPB2_ENST00000608747.1_5'UTR|SIRPB2_ENST00000537284.1_Silent_p.G32G|SIRPB2_ENST00000444444.2_Silent_p.G72G	NM_001122962.1	NP_001116434.1	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein beta 2	43	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTCCAGTGGTCCCCAACACCA	0.587																																						ENST00000359801.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(508-510)ggG>ggT		signal-regulatory protein beta 2							66.0	59.0	61.0					20																	1459194		1568	3582	5150	SO:0001819	synonymous_variant	284759					integral to membrane		g.chr20:1459194C>A	AL109658	CCDS42849.1, CCDS46570.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000196209	ENSG00000196209		"""Signal-regulatory proteins"", ""Immunoglobulin superfamily / V-set domain containing"""	16247	protein-coding gene	gene with protein product			"""protein tyrosine phosphatase, non-receptor type 1-like"", ""protein tyrosine phosphatase, non-receptor type substrate 1-like 3"""	PTPN1L, PTPNS1L3		16339511	Standard	NM_001122962		Approved	dJ776F14.2	uc002wfg.2	Q5JXA9	OTTHUMG00000031670	ENST00000359801.3:c.510G>T	20.37:g.1459194C>A						SIRPB2_ENST00000537284.1_Silent_p.G32G|SIRPB2_ENST00000444444.1_Silent_p.G72G|SIRPB2_ENST00000381630.1_Silent_p.G72G	p.G170G	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN			3	546	-			170			Ig-like V-type 2.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Silent	SNP	ENST00000359801.3	37	c.510G>T	CCDS42849.1																																																																																				0.587	SIRPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077544.1	NM_178459		5	45	1	0	0.014758	1	0.0158378	5	45				
AMZ2	51321	broad.mit.edu	37	17	66251917	66251917	+	Missense_Mutation	SNP	A	A	G			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr17:66251917A>G	ENST00000359904.3	+	6	1959	c.827A>G	c.(826-828)aAc>aGc	p.N276S	AMZ2_ENST00000577866.1_Missense_Mutation_p.N276S|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000580753.1_Missense_Mutation_p.N276S|AMZ2_ENST00000392720.2_Missense_Mutation_p.N276S|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000359783.4_Missense_Mutation_p.N218S|AMZ2_ENST00000577985.1_Missense_Mutation_p.N276S	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	276							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAGGCTCCAACCACTTGGAA	0.488																																						ENST00000359904.3																			0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9						c.(826-828)aAc>aGc		archaelysin family metallopeptidase 2							94.0	86.0	89.0					17																	66251917		2203	4300	6503	SO:0001583	missense	51321						metallopeptidase activity|zinc ion binding	g.chr17:66251917A>G	CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.827A>G	17.37:g.66251917A>G	ENSP00000352976:p.Asn276Ser					AMZ2_ENST00000577866.1_Missense_Mutation_p.N276S|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000392720.2_Missense_Mutation_p.N276S|AMZ2_ENST00000359783.4_Missense_Mutation_p.N218S|AMZ2_ENST00000577985.1_Missense_Mutation_p.N276S|AMZ2_ENST00000580753.1_Missense_Mutation_p.N276S	p.N276S	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	1959	+	all_cancers(12;1.12e-09)		276					A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	ENST00000359904.3	37	c.827A>G	CCDS11674.1	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972600	0.53614	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	T;T;T	0.40225	1.04;1.04;1.04	3.64	2.55	0.30701	Metallopeptidase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.45155	0.1328	M	0.67517	2.055	0.80722	D	1	P;P	0.47253	0.892;0.722	P;P	0.51055	0.657;0.478	T	0.33111	-0.9881	10	0.18710	T	0.47	-19.4694	7.3461	0.26664	0.8892:0.0:0.1108:0.0	.	218;276	A6NLD9;Q86W34	.;AMZ2_HUMAN	S	276;218;276	ENSP00000352976:N276S;ENSP00000352831:N218S;ENSP00000376481:N276S	ENSP00000352831:N218S	N	+	2	0	AMZ2	63763512	1.000000	0.71417	1.000000	0.80357	0.803000	0.45373	4.458000	0.60095	0.745000	0.32763	0.383000	0.25322	AAC		0.488	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448261.1	NM_016627		11	63	0	0	0	1	0	11	63				
STX1B	112755	broad.mit.edu	37	16	31004421	31004421	+	Intron	SNP	G	G	A			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr16:31004421G>A	ENST00000215095.5	-	9	1018				STX1B_ENST00000565419.1_Silent_p.G272G	NM_052874.3	NP_443106.1	P61266	STX1B_HUMAN	syntaxin 1B						intracellular protein transport (GO:0006886)|neurotransmitter transport (GO:0006836)|regulation of exocytosis (GO:0017157)|regulation of gene expression (GO:0010468)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						GGGCTCCCCCGCCTACCCCCA	0.627																																						ENST00000565419.1																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						c.(814-816)ggC>ggT		syntaxin 1B							44.0	46.0	45.0					16																	31004421		2197	4298	6495	SO:0001627	intron_variant	112755				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity	g.chr16:31004421G>A	AY028792	CCDS10699.1	16p12-p11	2008-02-05	2007-06-20	2007-06-20	ENSG00000099365	ENSG00000099365			18539	protein-coding gene	gene with protein product		601485	"""syntaxin 1B1"", ""syntaxin 1B2"""	STX1B1, STX1B2			Standard	NM_052874		Approved		uc010cad.2	P61266	OTTHUMG00000132391	ENST00000215095.5:c.786+29C>T	16.37:g.31004421G>A						STX1B_ENST00000215095.5_Intron	p.G272G			P61266	STX1B_HUMAN			9	815	-			0					Q15531|Q2VPS2	Silent	SNP	ENST00000215095.5	37	c.816C>T	CCDS10699.1																																																																																				0.627	STX1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255521.2			5	24	0	0	0	1	0	5	24				
PDYN	5173	broad.mit.edu	37	20	1961195	1961195	+	Missense_Mutation	SNP	C	C	T	rs377075531		TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr20:1961195C>T	ENST00000217305.2	-	4	764	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PDYN_ENST00000540134.1_Missense_Mutation_p.R180H|PDYN_ENST00000539905.1_Missense_Mutation_p.R180H|RP4-684O24.5_ENST00000446562.1_RNA	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN	prodynorphin	180					cell death (GO:0008219)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGGGTATTTGCGCAAAAAGCC	0.602																																						ENST00000217305.2																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(538-540)cGc>cAc		prodynorphin							99.0	103.0	102.0					20																	1961195		2203	4300	6503	SO:0001583	missense	5173				cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	g.chr20:1961195C>T		CCDS13023.1	20p13	2014-09-17			ENSG00000101327	ENSG00000101327		"""Endogenous ligands"""	8820	protein-coding gene	gene with protein product	"""preproenkephalin B"", ""rimorphin"", ""beta-neoendorphin"", ""dynorphin"", ""leu-enkephalin"", ""leumorphin"", ""neoendorphin-dynorphin-enkephalin prepropeptide"""	131340	"""spinocerebellar ataxia 23"""	SCA23		21035104	Standard	NM_001190892		Approved	PENKB, ADCA	uc021vzs.1	P01213	OTTHUMG00000031683	ENST00000217305.2:c.539G>A	20.37:g.1961195C>T	ENSP00000217305:p.Arg180His					PDYN_ENST00000539905.1_Missense_Mutation_p.R180H|PDYN_ENST00000540134.1_Missense_Mutation_p.R180H|RP4-684O24.5_ENST00000446562.1_RNA	p.R180H	NM_001190892.1|NM_001190898.2|NM_024411.4	NP_001177821.1|NP_001177827.1|NP_077722.1	P01213	PDYN_HUMAN			4	764	-			180					A8K0Q3	Missense_Mutation	SNP	ENST00000217305.2	37	c.539G>A	CCDS13023.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.772531	0.90108	.	.	ENSG00000101327	ENST00000539905;ENST00000540134;ENST00000217305	D;D;D	0.86769	-2.17;-2.17;-2.17	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.94162	0.8127	M	0.89095	3.005	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95090	0.8221	10	0.87932	D	0	-18.2484	15.1657	0.72821	0.0:1.0:0.0:0.0	.	180	P01213	PDYN_HUMAN	H	180	ENSP00000440185:R180H;ENSP00000442259:R180H;ENSP00000217305:R180H	ENSP00000217305:R180H	R	-	2	0	PDYN	1909195	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.652000	0.61454	2.445000	0.82738	0.313000	0.20887	CGC		0.602	PDYN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077569.2			16	75	0	0	0	1	0	16	75				
SEL1L	6400	broad.mit.edu	37	14	81950619	81950619	+	Missense_Mutation	SNP	C	C	A			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr14:81950619C>A	ENST00000336735.4	-	19	2112	c.1996G>T	c.(1996-1998)Gct>Tct	p.A666S		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	666	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway (GO:0007219)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTAAACATAGCTTGTGCACTG	0.428																																						ENST00000336735.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28						c.(1996-1998)Gct>Tct		sel-1 suppressor of lin-12-like (C. elegans)							301.0	293.0	296.0					14																	81950619		2203	4300	6503	SO:0001583	missense	6400				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr14:81950619C>A		CCDS9876.1, CCDS58333.1	14q31	2011-03-31	2001-11-28		ENSG00000071537	ENSG00000071537			10717	protein-coding gene	gene with protein product	"""sel-1 suppressor of lin-12-like 1 (C. elegans)"""	602329	"""sel-1 (suppressor of lin-12, C.elegans)-like"""			9417916, 10051412, 16331677	Standard	NM_005065		Approved	IBD2, SEL1L1	uc010tvv.2	Q9UBV2		ENST00000336735.4:c.1996G>T	14.37:g.81950619C>A	ENSP00000337053:p.Ala666Ser						p.A666S	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0299)	19	2112	-			666			Interaction with ERLEC1, OS9 and SYVN1.		Q6UWT6|Q9P1T9|Q9UHK7	Missense_Mutation	SNP	ENST00000336735.4	37	c.1996G>T	CCDS9876.1	.	.	.	.	.	.	.	.	.	.	C	35	5.425161	0.96131	.	.	ENSG00000071537	ENST00000336735;ENST00000261258	T	0.61392	0.11	5.92	5.92	0.95590	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.78027	0.4219	M	0.75884	2.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78201	-0.2296	10	0.66056	D	0.02	.	20.3167	0.98654	0.0:1.0:0.0:0.0	.	666	Q9UBV2	SE1L1_HUMAN	S	666;27	ENSP00000337053:A666S	ENSP00000261258:A27S	A	-	1	0	SEL1L	81020372	1.000000	0.71417	0.860000	0.33809	0.989000	0.77384	7.379000	0.79691	2.809000	0.96659	0.557000	0.71058	GCT		0.428	SEL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413325.1	NM_005065		4	219	1	0	1	1	1	4	219				
DNM1P47	100216544	broad.mit.edu	37	15	102292820	102292820	+	RNA	SNP	G	G	C			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr15:102292820G>C	ENST00000561463.1	+	0	866									DNM1 pseudogene 47									p.T136T(2)									GCGTGGGAACGAGAAGACACT	0.592																																						ENST00000561463.1																			2	Substitution - coding silent(2)	p.T136T(2)	kidney(2)																																																0							g.chr15:102292820G>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292820G>C														0	866	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.592	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	22	0	0	0	1	0	3	22				
ZNF595	152687	broad.mit.edu	37	4	59341	59341	+	Missense_Mutation	SNP	G	G	A			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr4:59341G>A	ENST00000509152.2	+	2	207	c.22G>A	c.(22-24)Gat>Aat	p.D8N	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.D8N			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	8	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AACATTCAGGGATGTGGCCAT	0.418																																						ENST00000509152.2																			0				endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20						c.(22-24)Gat>Aat		zinc finger protein 595							359.0	386.0	377.0					4																	59341		2203	4300	6503	SO:0001583	missense	152687							g.chr4:59341G>A	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.22G>A	4.37:g.59341G>A	ENSP00000434858:p.Asp8Asn					ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.D8N	p.D8N						Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	207	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)							Missense_Mutation	SNP	ENST00000509152.2	37	c.22G>A		.	.	.	.	.	.	.	.	.	.	G	15.80	2.941684	0.53079	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.11169	2.8;2.8	1.26	0.225	0.15325	Krueppel-associated box (8);	.	.	.	.	T	0.25158	0.0611	.	.	.	0.25366	N	0.988743	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.08452	-1.0721	8	0.87932	D	0	.	5.3694	0.16131	0.2251:0.0:0.7749:0.0	.	8;8	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	N	8	ENSP00000434858:D8N;ENSP00000437878:D8N	ENSP00000434858:D8N	D	+	1	0	ZNF595	49341	0.995000	0.38212	0.552000	0.28243	0.244000	0.25665	1.641000	0.37197	-0.157000	0.11059	0.484000	0.47621	GAT		0.418	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		5	356	0	0	0	1	0	5	356				
NPAP1	23742	broad.mit.edu	37	15	24921147	24921147	+	Missense_Mutation	SNP	C	C	T			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr15:24921147C>T	ENST00000329468.2	+	1	607	c.133C>T	c.(133-135)Cgc>Tgc	p.R45C		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	45					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)		p.R45C(1)									ACCCACCCCGCGCCCTTTCCG	0.761																																						ENST00000329468.2																			1	Substitution - Missense(1)	p.R45C(1)	large_intestine(1)								c.(133-135)Cgc>Tgc		nuclear pore associated protein 1							11.0	14.0	13.0					15																	24921147		2139	4164	6303	SO:0001583	missense	23742							g.chr15:24921147C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.133C>T	15.37:g.24921147C>T	ENSP00000333735:p.Arg45Cys						p.R45C	NM_018958.2	NP_061831.2					1	607	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.133C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	13.85	2.361417	0.41801	.	.	ENSG00000185823	ENST00000329468	T	0.07327	3.2	2.14	-4.28	0.03732	.	2.777100	0.01720	N	0.028204	T	0.05914	0.0154	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.35025	-0.9805	10	0.54805	T	0.06	.	3.9791	0.09487	0.0:0.2566:0.3614:0.382	.	45	Q9NZP6	CO002_HUMAN	C	45	ENSP00000333735:R45C	ENSP00000333735:R45C	R	+	1	0	C15orf2	22472240	0.000000	0.05858	0.000000	0.03702	0.028000	0.11728	-0.364000	0.07583	-1.295000	0.02357	0.305000	0.20034	CGC		0.761	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		3	20	0	0	0	1	0	3	20				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	31	0	0	0	1	0	3	31				
HSPA8	3312	broad.mit.edu	37	11	122930500	122930500	+	Missense_Mutation	SNP	A	A	C			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr11:122930500A>C	ENST00000532636.1	-	5	920	c.801T>G	c.(799-801)tgT>tgG	p.C267W	HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000534319.1_Missense_Mutation_p.C31W|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000534624.1_Missense_Mutation_p.C267W|HSPA8_ENST00000227378.3_Missense_Mutation_p.C267W|HSPA8_ENST00000526110.1_Missense_Mutation_p.C248W|HSPA8_ENST00000453788.2_Missense_Mutation_p.C267W|SNORD14D_ENST00000384390.1_RNA|SNORD14E_ENST00000364009.1_RNA|HSPA8_ENST00000533540.1_Missense_Mutation_p.C121W			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	267	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TAGCACGTTCACAAGCAGTAC	0.478																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(799-801)tgT>tgG		heat shock 70kDa protein 8							83.0	73.0	76.0					11																	122930500		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122930500A>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.801T>G	11.37:g.122930500A>C	ENSP00000437125:p.Cys267Trp					HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000526110.1_Missense_Mutation_p.C248W|HSPA8_ENST00000453788.2_Missense_Mutation_p.C267W|HSPA8_ENST00000227378.3_Missense_Mutation_p.C267W|HSPA8_ENST00000534319.1_Missense_Mutation_p.C31W|HSPA8_ENST00000533540.1_Missense_Mutation_p.C121W|HSPA8_ENST00000532636.1_Missense_Mutation_p.C267W	p.C267W	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	5	1077	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	267			Interaction with BAG1.		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.801T>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.935238	0.52866	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.01139	5.28;5.28;5.28;5.28;5.28;5.28;5.28;5.28	4.74	0.94	0.19513	.	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	H	0.99650	4.68	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;0.997;0.995;0.999	T	0.05835	-1.0861	10	0.87932	D	0	-12.9197	10.0597	0.42266	0.6442:0.0:0.3558:0.0	.	267;267;267;267	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	W	267;121;267;267;267;31;248;207	ENSP00000437125:C267W;ENSP00000437189:C121W;ENSP00000432083:C267W;ENSP00000404372:C267W;ENSP00000227378:C267W;ENSP00000433316:C31W;ENSP00000433584:C248W;ENSP00000432884:C207W	ENSP00000227378:C267W	C	-	3	2	HSPA8	122435710	0.978000	0.34361	0.997000	0.53966	0.811000	0.45836	0.296000	0.19083	-0.035000	0.13691	-0.379000	0.06801	TGT		0.478	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			6	36	0	0	0	1	0	6	36				
SPON2	10417	broad.mit.edu	37	4	1165174	1165174	+	Missense_Mutation	SNP	C	C	T	rs202135813		TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr4:1165174C>T	ENST00000290902.5	-	3	653	c.321G>A	c.(319-321)atG>atA	p.M107I	SPON2_ENST00000431380.1_Missense_Mutation_p.M107I	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	107	Spondin. {ECO:0000255|PROSITE- ProRule:PRU00364}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CGATCTCCTTCATCAGCGCCC	0.701																																						ENST00000290902.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9						c.(319-321)atG>atA		spondin 2, extracellular matrix protein							21.0	24.0	23.0					4																	1165174		2186	4257	6443	SO:0001583	missense	10417				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	g.chr4:1165174C>T	AB027466	CCDS3347.1	4p16.3	2008-07-29			ENSG00000159674	ENSG00000159674			11253	protein-coding gene	gene with protein product	"""Mindin"", ""M-spondin"""	605918				10512675, 15094111	Standard	NM_012445		Approved	DIL1	uc003gco.4	Q9BUD6	OTTHUMG00000089002	ENST00000290902.5:c.321G>A	4.37:g.1165174C>T	ENSP00000290902:p.Met107Ile					SPON2_ENST00000431380.1_Missense_Mutation_p.M107I	p.M107I	NM_012445.3	NP_036577.1	Q9BUD6	SPON2_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)	3	653	-			107			Spondin.		D3DVN9|Q4W5N4|Q9ULW1	Missense_Mutation	SNP	ENST00000290902.5	37	c.321G>A	CCDS3347.1	.	.	.	.	.	.	.	.	.	.	C	9.676	1.147979	0.21288	.	.	ENSG00000159674	ENST00000290902;ENST00000431380;ENST00000503765	T;T;T	0.40756	1.02;1.02;1.02	4.5	4.5	0.54988	Spondin, N-terminal (2);	0.116046	0.85682	D	0.000000	T	0.37732	0.1014	L	0.37850	1.14	0.52501	D	0.999952	B;B;B	0.31519	0.327;0.068;0.068	B;B;B	0.34873	0.191;0.086;0.124	T	0.24693	-1.0153	10	0.37606	T	0.19	.	16.7743	0.85547	0.0:1.0:0.0:0.0	.	107;107;107	D6RB12;D3DVN9;Q9BUD6	.;.;SPON2_HUMAN	I	107	ENSP00000290902:M107I;ENSP00000394832:M107I;ENSP00000424542:M107I	ENSP00000290902:M107I	M	-	3	0	SPON2	1155174	1.000000	0.71417	0.965000	0.40720	0.623000	0.37688	3.297000	0.51810	2.053000	0.61076	0.511000	0.50034	ATG		0.701	SPON2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202080.2			3	30	0	0	0	1	0	3	30				
M1AP	130951	broad.mit.edu	37	2	74785922	74785922	+	Missense_Mutation	SNP	T	T	G			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr2:74785922T>G	ENST00000290536.5	-	11	1630	c.1514A>C	c.(1513-1515)aAg>aCg	p.K505T	M1AP_ENST00000536235.1_Missense_Mutation_p.K501T|M1AP_ENST00000409585.1_Missense_Mutation_p.K501T|M1AP_ENST00000464686.1_5'UTR|M1AP_ENST00000358434.2_Missense_Mutation_p.K154T	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	505					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											TGCTGGCATCTTGGAGGCTCT	0.587																																						ENST00000290536.5																			0											c.(1513-1515)aAg>aCg		meiosis 1 associated protein							98.0	95.0	96.0					2																	74785922		2203	4300	6503	SO:0001583	missense	130951							g.chr2:74785922T>G		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.1514A>C	2.37:g.74785922T>G	ENSP00000290536:p.Lys505Thr					M1AP_ENST00000536235.1_Missense_Mutation_p.K501T|M1AP_ENST00000409585.1_Missense_Mutation_p.K501T|M1AP_ENST00000358434.2_Missense_Mutation_p.K154T|M1AP_ENST00000464686.1_5'UTR	p.K505T	NM_138804.3	NP_620159.2					11	1630	-								B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.1514A>C	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	T	17.14	3.313317	0.60414	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000358434	T;T;T	0.33654	1.4;1.4;1.4	5.44	5.44	0.79542	.	0.260619	0.37483	N	0.002068	T	0.54631	0.1870	L	0.60455	1.87	0.37360	D	0.911205	D;D;D;D	0.89917	1.0;0.99;1.0;1.0	D;P;D;D	0.87578	0.998;0.844;0.998;0.998	T	0.62144	-0.6916	10	0.62326	D	0.03	-11.2763	11.8124	0.52189	0.0:0.0:0.0:1.0	.	501;154;505;257	E9PGG8;Q8TC57-3;Q8TC57;B3KX03	.;.;CB065_HUMAN;.	T	505;501;501;154	ENSP00000290536:K505T;ENSP00000386793:K501T;ENSP00000445662:K501T	ENSP00000290536:K505T	K	-	2	0	C2orf65	74639430	0.632000	0.27172	0.619000	0.29118	0.832000	0.47134	0.800000	0.27042	2.275000	0.75901	0.533000	0.62120	AAG		0.587	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804		11	40	0	0	0	1	0	11	40				
KIF26B	55083	broad.mit.edu	37	1	245319797	245319797	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr1:245319797delG	ENST00000407071.2	+	2	717	c.277delG	c.(277-279)ggcfs	p.G93fs		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	93	Gly-rich.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CCCCGGCATCGGCACTAGTTC	0.786																																						ENST00000407071.2																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(277-279)gcfs		kinesin family member 26B							2.0	2.0	2.0					1																	245319797		1048	2725	3773	SO:0001589	frameshift_variant	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245319797delG	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.277delG	1.37:g.245319797delG	ENSP00000385545:p.Gly93fs						p.G93fs	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		2	717	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		93			Gly-rich.		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Frame_Shift_Del	DEL	ENST00000407071.2	37	c.277delG	CCDS44342.1																																																																																				0.786	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		2	4						2	4	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230662405	230662405	+	Splice_Site	DEL	C	C	-			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr2:230662405delC	ENST00000283943.5	-	23	3578		c.e23+1		TRIP12_ENST00000389044.4_Splice_Site|TRIP12_ENST00000543084.1_Splice_Site|TRIP12_ENST00000389045.3_Splice_Site	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGACACAGCACCTGGAGGTTG	0.448																																						ENST00000283943.5																			0				breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.e23+1		thyroid hormone receptor interactor 12							132.0	132.0	132.0					2																	230662405		2203	4300	6503	SO:0001630	splice_region_variant	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230662405delC	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.3399+1G>-	2.37:g.230662405delC						TRIP12_ENST00000389045.3_Splice_Site|TRIP12_ENST00000543084.1_Splice_Site|TRIP12_ENST00000389044.4_Splice_Site		NM_004238.1	NP_004229.1	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	23	3578	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)						D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Splice_Site	DEL	ENST00000283943.5	37		CCDS33391.1																																																																																				0.448	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238	Intron	9	43						9	43	---	---	---	---
PHC3	80012	broad.mit.edu	37	3	169889137	169889138	+	Intron	INS	-	-	A			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr3:169889137_169889138insA	ENST00000494943.1	-	4	447				PHC3_ENST00000467570.1_Intron|PHC3_ENST00000481639.1_Frame_Shift_Ins_p.F142fs|PHC3_ENST00000474275.1_Intron|PHC3_ENST00000495893.2_Intron|PHC3_ENST00000497658.1_Frame_Shift_Ins_p.F146fs			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)						multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTAAATCCAGGAAAAAAAAATT	0.337																																						ENST00000497658.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(436-438)tctfs		polyhomeotic homolog 3 (Drosophila)																																				SO:0001627	intron_variant	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169889137_169889138insA		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.378+22->T	3.37:g.169889146_169889146dupA						PHC3_ENST00000467570.1_Intron|PHC3_ENST00000495893.1_Intron|PHC3_ENST00000474275.1_Intron|PHC3_ENST00000494943.1_Intron|PHC3_ENST00000481639.1_Frame_Shift_Ins_p.S142fs	p.S146fs			Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		4	454_455	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		782			Ser-rich.		A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	Frame_Shift_Ins	INS	ENST00000494943.1	37	c.437_438insT																																																																																					0.337	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947		3	4						3	4	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152708427	152708428	+	Frame_Shift_Ins	INS	-	-	T			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr6:152708427_152708428insT	ENST00000367255.5	-	54	8867_8868	c.8266_8267insA	c.(8266-8268)atafs	p.I2756fs	SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.I2795fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.I2756fs|SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.I2763fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.I2763fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2756					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGGATGTTCTATTTTTTGATCC	0.455										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(8266-8268)agafs		spectrin repeat containing, nuclear envelope 1																																				SO:0001589	frameshift_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152708427_152708428insT	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.8267dupA	6.37:g.152708433_152708433dupT	ENSP00000356224:p.Ile2756fs	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Frame_Shift_Ins_p.R2763fs|SYNE1_ENST00000448038.1_Frame_Shift_Ins_p.R2763fs|SYNE1_ENST00000341594.5_Frame_Shift_Ins_p.R2795fs|SYNE1_ENST00000265368.4_Frame_Shift_Ins_p.R2756fs	p.R2756fs	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	54	8867_8868	-		Ovarian(120;0.0955)	2756					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Frame_Shift_Ins	INS	ENST00000367255.5	37	c.8266_8267insA	CCDS5236.2																																																																																				0.455	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		7	50						7	50	---	---	---	---
LSP1	4046	broad.mit.edu	37	11	1874395	1874395	+	Frame_Shift_Del	DEL	C	C	-	rs371615334		TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr11:1874395delC	ENST00000311604.3	+	1	196	c.21delC	c.(19-21)gacfs	p.D7fs		NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN	lymphocyte-specific protein 1	7					cellular component movement (GO:0006928)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|signal transducer activity (GO:0004871)			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)		CTTCGAGTGACCCGGGTGCCG	0.652																																						ENST00000311604.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16						c.(19-21)gafs		lymphocyte-specific protein 1							60.0	60.0	60.0					11																	1874395		2197	4295	6492	SO:0001589	frameshift_variant	4046				cellular component movement|cellular defense response	actin cytoskeleton|Golgi apparatus|plasma membrane	actin binding|signal transducer activity	g.chr11:1874395delC	M33552	CCDS31334.1, CCDS31335.1, CCDS58110.1	11p15.5	2008-02-05			ENSG00000130592	ENSG00000130592			6707	protein-coding gene	gene with protein product		153432				2174784	Standard	NM_001242932		Approved	WP34	uc001luj.3	P33241	OTTHUMG00000012252	ENST00000311604.3:c.21delC	11.37:g.1874395delC	ENSP00000308383:p.Asp7fs						p.D7fs	NM_002339.2	NP_002330.1	P33241	LSP1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00147)|Lung(200;0.0729)|LUSC - Lung squamous cell carcinoma(625;0.0856)	1	196	+		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	7					B3KPP1|B3KRR6|E9PBV6|E9PFP3|Q16096|Q53H48|Q6FHM3|Q9BUY8	Frame_Shift_Del	DEL	ENST00000311604.3	37	c.21delC	CCDS31334.1																																																																																				0.652	LSP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000034045.3	NM_002339		2	4						2	4	---	---	---	---
KCNQ2	3785	broad.mit.edu	37	20	62073806	62073806	+	Frame_Shift_Del	DEL	C	C	-			TCGA-XK-AAIR-01A-11D-A41K-08	TCGA-XK-AAIR-10A-01D-A41N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab4e6321-19ec-44d9-aa53-2391911d92d0	bba1d69c-c2b1-4f84-82c8-b54699187c99	g.chr20:62073806delC	ENST00000359125.2	-	5	943	c.769delG	c.(769-771)gagfs	p.E257fs	KCNQ2_ENST00000357249.2_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000360480.3_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000344425.5_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000359689.1_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000370224.1_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000344462.4_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000354587.3_Frame_Shift_Del_p.E257fs	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	257					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	TGGTCGTTCTCCCCCTTCTCT	0.582																																						ENST00000354587.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(769-771)agfs		potassium voltage-gated channel, KQT-like subfamily, member 2	Amitriptyline(DB00321)						356.0	286.0	310.0					20																	62073806		2203	4300	6503	SO:0001589	frameshift_variant	3785				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:62073806delC	AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.769delG	20.37:g.62073806delC	ENSP00000352035:p.Glu257fs					KCNQ2_ENST00000370226.1_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000430658.1_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000370222.3_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000357249.2_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000370224.1_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000359125.2_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000344425.5_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000344462.3_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000370221.1_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000360480.3_Frame_Shift_Del_p.E257fs|KCNQ2_ENST00000359689.1_Frame_Shift_Del_p.E257fs	p.E257fs			O43526	KCNQ2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		5	945	-	all_cancers(38;1.24e-11)		257					O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Frame_Shift_Del	DEL	ENST00000359125.2	37	c.769delG	CCDS13520.1																																																																																				0.582	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080353.1	NM_172109		34	182						34	182	---	---	---	---
