#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
ACAD10	80724	broad.mit.edu	37	12	112186219	112186219	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr12:112186219G>T	ENST00000313698.4	+	17	2739	c.2584G>T	c.(2584-2586)Gat>Tat	p.D862Y	ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.D464Y|ACAD10_ENST00000455480.2_Missense_Mutation_p.D893Y	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	862						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGTTCCCATGGATACCCCAGG	0.562																																						ENST00000455480.2																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						c.(2677-2679)Gat>Tat		acyl-CoA dehydrogenase family, member 10							92.0	91.0	91.0					12																	112186219		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112186219G>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.2584G>T	12.37:g.112186219G>T	ENSP00000325137:p.Asp862Tyr					ACAD10_ENST00000313698.4_Missense_Mutation_p.D862Y|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.D464Y	p.D893Y	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN			18	2854	+			862					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.2677G>T	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.624630	0.87560	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000455480;ENST00000313698	D;D;D	0.99136	-5.47;-5.47;-5.47	5.87	5.87	0.94306	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA oxidase/dehydrogenase, central domain (1);	0.410530	0.25283	N	0.031800	D	0.99471	0.9812	M	0.93062	3.375	0.58432	D	0.999993	D;D;D	0.76494	0.999;0.996;0.999	D;D;D	0.70935	0.971;0.91;0.939	D	0.98903	1.0777	10	0.87932	D	0	.	18.9713	0.92716	0.0:0.0:1.0:0.0	.	893;862;862	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	Y	464;862;893;862	ENSP00000376411:D464Y;ENSP00000389813:D893Y;ENSP00000325137:D862Y	ENSP00000325137:D862Y	D	+	1	0	ACAD10	110670602	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	7.084000	0.76866	2.778000	0.95560	0.655000	0.94253	GAT		0.562	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		17	51	1	0	3.32936e-07	1	3.63203e-07	17	51				
TP73-AS1	57212	broad.mit.edu	37	1	3662338	3662338	+	RNA	SNP	C	C	T	rs562084723|rs74910456		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:3662338C>T	ENST00000452079.1	-	0	1548				TP73-AS1_ENST00000608600.1_RNA|TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000587071.1_RNA|TP73-AS1_ENST00000418088.1_RNA|TP73-AS1_ENST00000423764.1_RNA	NR_033711.1		Q9UF72	T73AS_HUMAN	TP73 antisense RNA 1							extracellular region (GO:0005576)											GCCGGGCTCCCGAAGCCCACC	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17924	0.0		0.0	False		,,,				2504	0.0					ENST00000452079.1																			0																				52.0	56.0	55.0					1																	3662338		2114	4226	6340			0							g.chr1:3662338C>T			1p36.32	2014-01-20	2014-01-20	2014-01-20	ENSG00000227372	ENSG00000227372		"""Long non-coding RNAs"""	29052	non-coding RNA	RNA, long non-coding	"""p53-dependent apoptosis modulator"""		"""KIAA0495"""	KIAA0495		9455484, 20477830, 23726844	Standard	NR_033708		Approved	PDAM	uc009vlm.3	Q9UF72	OTTHUMG00000003414		1.37:g.3662338C>T						TP73-AS1_ENST00000544565.1_RNA|TP73-AS1_ENST00000423764.1_RNA|TP73-AS1_ENST00000418088.1_RNA		NR_033711.1						0	1548	-									RNA	SNP	ENST00000452079.1	37																																																																																						0.642	TP73-AS1-003	KNOWN	basic	antisense	antisense	OTTHUMT00000009558.1	NR_033708		3	20	0	0	0	1	0	3	20				
NFKBIB	4793	broad.mit.edu	37	19	39395664	39395664	+	Missense_Mutation	SNP	C	C	G			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr19:39395664C>G	ENST00000313582.5	+	2	223	c.189C>G	c.(187-189)caC>caG	p.H63Q	NFKBIB_ENST00000572515.1_Missense_Mutation_p.H63Q|NFKBIB_ENST00000392079.3_Intron	NM_002503.4	NP_002494.2	Q15653	IKBB_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta	63					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of type I interferon production (GO:0032481)|signal transduction (GO:0007165)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGGCACTGCACTTGGCTGTGA	0.532																																					Pancreas(165;1492 2005 6979 7739 34483)	ENST00000572515.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(187-189)caC>caG		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta							184.0	180.0	182.0					19																	39395664		2203	4300	6503	SO:0001583	missense	4793				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity	g.chr19:39395664C>G	L40407	CCDS12524.1, CCDS74362.1	19q13.1	2013-01-10				ENSG00000104825		"""Ankyrin repeat domain containing"""	7798	protein-coding gene	gene with protein product		604495				9763672	Standard	NM_002503		Approved	IKBB, TRIP9	uc002ojw.3	Q15653		ENST00000313582.5:c.189C>G	19.37:g.39395664C>G	ENSP00000312988:p.His63Gln					NFKBIB_ENST00000313582.5_Missense_Mutation_p.H63Q|NFKBIB_ENST00000392079.3_Intron	p.H63Q			Q15653	IKBB_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		2	270	+	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		63					A8K3F4|Q96BJ7	Missense_Mutation	SNP	ENST00000313582.5	37	c.189C>G	CCDS12524.1	.	.	.	.	.	.	.	.	.	.	C	18.52	3.642381	0.67244	.	.	ENSG00000104825	ENST00000509705;ENST00000313582	T	0.70164	-0.46	4.94	3.91	0.45181	Ankyrin repeat-containing domain (4);	0.000000	0.53938	D	0.000047	T	0.78039	0.4221	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	T	0.79254	-0.1879	10	0.66056	D	0.02	-27.5108	10.783	0.46388	0.0:0.9108:0.0:0.0892	.	86;63	Q59EM7;Q15653	.;IKBB_HUMAN	Q	86;63	ENSP00000312988:H63Q	ENSP00000312988:H63Q	H	+	3	2	NFKBIB	44087504	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.217000	0.32455	1.295000	0.44724	-0.137000	0.14449	CAC		0.532	NFKBIB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438155.1	NM_002503		4	212	0	0	0	1	0	4	212				
TET1	80312	broad.mit.edu	37	10	70411669	70411669	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr10:70411669C>A	ENST00000373644.4	+	5	4552	c.4343C>A	c.(4342-4344)gCt>gAt	p.A1448D		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1448					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGTGTTGCTGCTGTCAGGGAA	0.408																																						ENST00000373644.4																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						c.(4342-4344)gCt>gAt		tet methylcytosine dioxygenase 1							157.0	160.0	159.0					10																	70411669		2203	4300	6503	SO:0001583	missense	80312				DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding	g.chr10:70411669C>A	AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4343C>A	10.37:g.70411669C>A	ENSP00000362748:p.Ala1448Asp						p.A1448D	NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN			5	4552	+			1448					Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	ENST00000373644.4	37	c.4343C>A	CCDS7281.1	.	.	.	.	.	.	.	.	.	.	C	33	5.196582	0.94960	.	.	ENSG00000138336	ENST00000373644	T	0.39592	1.07	5.83	5.83	0.93111	TET cysteine-rich domain (1);	0.123530	0.53938	D	0.000049	T	0.58652	0.2137	L	0.39085	1.19	0.58432	D	0.999996	D	0.89917	1.0	D	0.87578	0.998	T	0.59247	-0.7490	10	0.87932	D	0	.	20.1356	0.98028	0.0:1.0:0.0:0.0	.	1448	Q8NFU7	TET1_HUMAN	D	1448	ENSP00000362748:A1448D	ENSP00000362748:A1448D	A	+	2	0	TET1	70081675	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.294000	0.78760	2.755000	0.94549	0.650000	0.86243	GCT		0.408	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048354.1	NM_030625		8	86	1	0	1.12685e-05	1	1.20197e-05	8	86				
PHACTR4	65979	broad.mit.edu	37	1	28764899	28764899	+	Intron	SNP	G	G	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:28764899G>T	ENST00000373839.3	+	3	277				PHACTR4_ENST00000373836.3_Nonsense_Mutation_p.G2*|PHACTR4_ENST00000493669.1_Intron	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4						actin cytoskeleton organization (GO:0030036)|closure of optic fissure (GO:0061386)|enteric nervous system development (GO:0048484)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of catalytic activity (GO:0043085)|regulation of cell cycle (GO:0051726)|Rho protein signal transduction (GO:0007266)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)	actin binding (GO:0003779)|protein phosphatase 1 binding (GO:0008157)|protein phosphatase type 1 activator activity (GO:0071862)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TATAATCATGGGACAAGCTGA	0.413																																						ENST00000373836.3																			0				NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32						c.(4-6)Gga>Tga		phosphatase and actin regulator 4							107.0	98.0	101.0					1																	28764899		1872	4103	5975	SO:0001627	intron_variant	65979						actin binding|protein phosphatase inhibitor activity	g.chr1:28764899G>T	AF130081	CCDS41293.1, CCDS41294.1	1p35.2	2014-06-13			ENSG00000204138	ENSG00000204138		"""Phosphatase and actin regulators"""	25793	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 124"""	608726				11483580, 15107502	Standard	NM_023923		Approved	FLJ13171, PPP1R124	uc001bpy.3	Q8IZ21	OTTHUMG00000003541	ENST00000373839.3:c.17-20697G>T	1.37:g.28764899G>T						PHACTR4_ENST00000373839.3_Intron|PHACTR4_ENST00000493669.1_Intron	p.G2*	NM_023923.3	NP_076412.3	Q8IZ21	PHAR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)	1	218	+		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)	0					A2APK6|B9ZVW0|D3DPM3|Q68DD4|Q6NUN6|Q8N384|Q9H395|Q9H6X0|Q9H8W6	Nonsense_Mutation	SNP	ENST00000373839.3	37	c.4G>T	CCDS41293.1	.	.	.	.	.	.	.	.	.	.	G	39	7.361380	0.98235	.	.	ENSG00000204138	ENST00000373836	.	.	.	5.41	5.41	0.78517	.	0.000000	0.42420	D	0.000718	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.9137	0.79491	0.0:0.0:1.0:0.0	.	.	.	.	X	2	.	ENSP00000362942:G2X	G	+	1	0	PHACTR4	28637486	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.067000	0.57527	2.533000	0.85409	0.563000	0.77884	GGA		0.413	PHACTR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000009868.4	NM_023923		8	27	1	0	0.000274275	1	0.000280111	8	27				
AGER	177	broad.mit.edu	37	6	32151419	32151419	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr6:32151419C>T	ENST00000375076.4	-	3	369	c.268G>A	c.(268-270)Ggg>Agg	p.G90R	AGER_ENST00000375055.2_Missense_Mutation_p.G90R|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375065.5_Missense_Mutation_p.G90R|AGER_ENST00000375069.3_5'UTR|AGER_ENST00000375067.3_Missense_Mutation_p.G76R|AGER_ENST00000375070.3_Missense_Mutation_p.G121R|AGER_ENST00000438221.2_Missense_Mutation_p.G90R|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000538695.1_Missense_Mutation_p.G90R	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN	advanced glycosylation end product-specific receptor	90	Ig-like V-type.				cell surface receptor signaling pathway (GO:0007166)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|neuron projection development (GO:0031175)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|response to wounding (GO:0009611)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor activity (GO:0004872)|S100 protein binding (GO:0044548)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						TCCTGGATCCCGACAGCCGGA	0.587																																						ENST00000375076.4																			0				breast(1)|endometrium(1)|lung(5)|pancreas(2)	9						c.(268-270)Ggg>Agg		advanced glycosylation end product-specific receptor							89.0	96.0	93.0					6																	32151419		1509	2707	4216	SO:0001583	missense	177				cell surface receptor linked signaling pathway|inflammatory response|innate immune response|neuron projection development|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	S100 alpha binding|transmembrane receptor activity	g.chr6:32151419C>T	M91211	CCDS4746.1, CCDS4747.1, CCDS56417.1, CCDS56418.1, CCDS75429.1	6p21.3	2013-01-29			ENSG00000204305	ENSG00000204305		"""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	320	protein-coding gene	gene with protein product		600214				7713518	Standard	NM_001136		Approved	RAGE	uc003oap.2	Q15109	OTTHUMG00000031120	ENST00000375076.4:c.268G>A	6.37:g.32151419C>T	ENSP00000364217:p.Gly90Arg					AGER_ENST00000538695.1_Missense_Mutation_p.G90R|AGER_ENST00000375070.3_Missense_Mutation_p.G121R|AGER_ENST00000375065.5_Missense_Mutation_p.G90R|AGER_ENST00000375055.2_Missense_Mutation_p.G90R|AGER_ENST00000438221.2_Missense_Mutation_p.G90R|RNF5_ENST00000427134.2_3'UTR|AGER_ENST00000375067.3_Missense_Mutation_p.G76R|AGER_ENST00000375069.3_5'UTR	p.G90R	NM_001136.4|NM_001206929.1|NM_001206932.1	NP_001127.1|NP_001193858.1|NP_001193861.1	Q15109	RAGE_HUMAN			3	369	-			90			Ig-like V-type.		A2BFI7|A6NKF0|A7Y2U9|B0V176|Q15279|Q3L1R4|Q3L1R5|Q3L1R6|Q3L1R7|Q3L1R8|Q3L1S0|Q86SN1|Q9H2X7|Q9Y3R3|V5R6A3	Missense_Mutation	SNP	ENST00000375076.4	37	c.268G>A	CCDS4746.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668003	0.47677	.	.	ENSG00000204305	ENST00000375067;ENST00000375055;ENST00000375076;ENST00000375070;ENST00000546237;ENST00000438221;ENST00000375065;ENST00000450110;ENST00000375056;ENST00000538695	T;T;T;T;T;T;T;T;T	0.12039	2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72;2.72	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.133325	0.35291	N	0.003320	T	0.23727	0.0574	L	0.53249	1.67	0.43798	D	0.996349	D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.996	D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.999;0.995;1.0;1.0;0.999;1.0;1.0;1.0;0.929	T	0.00243	-1.1884	10	0.38643	T	0.18	-14.2092	15.5911	0.76530	0.0:1.0:0.0:0.0	.	90;90;90;90;90;90;90;90;76;90;76;90	B5A978;B5A979;B5A981;B5A980;A7Y2U9;Q15109-3;Q3L1R7;Q3L1R6;Q3L1R5;Q3L1R8;Q15109-2;Q15109	.;.;.;.;.;.;.;.;.;.;.;RAGE_HUMAN	R	76;90;90;121;90;90;90;90;90;90	ENSP00000364208:G76R;ENSP00000364195:G90R;ENSP00000364217:G90R;ENSP00000364211:G121R;ENSP00000387887:G90R;ENSP00000364206:G90R;ENSP00000398466:G90R;ENSP00000364196:G90R;ENSP00000445389:G90R	ENSP00000364195:G90R	G	-	1	0	AGER	32259397	0.986000	0.35501	0.955000	0.39395	0.952000	0.60782	3.523000	0.53488	2.755000	0.94549	0.591000	0.81541	GGG		0.587	AGER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076200.1	NM_001136		7	74	0	0	0	1	0	7	74				
SUN2	25777	broad.mit.edu	37	22	39141779	39141779	+	Silent	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr22:39141779G>A	ENST00000405510.1	-	9	1081	c.723C>T	c.(721-723)ttC>ttT	p.F241F	SUN2_ENST00000406622.1_Silent_p.F241F|RP3-508I15.14_ENST00000416406.1_RNA|RP3-508I15.21_ENST00000609212.1_RNA|SUN2_ENST00000405018.1_Silent_p.F262F|SUN2_ENST00000411587.2_Silent_p.F230F|RP3-508I15.22_ENST00000607991.1_RNA|SUN2_ENST00000216064.4_Silent_p.F241F	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	241					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|mitotic spindle organization (GO:0007052)|nuclear envelope organization (GO:0006998)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)	condensed nuclear chromosome (GO:0000794)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nuclear inner membrane (GO:0005637)|nuclear membrane (GO:0031965)|SUN-KASH complex (GO:0034993)	identical protein binding (GO:0042802)|lamin binding (GO:0005521)|microtubule binding (GO:0008017)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						AAGCAGGGTGGAATGTCTGCA	0.612																																						ENST00000405510.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						c.(721-723)ttC>ttT		Sad1 and UNC84 domain containing 2							63.0	59.0	61.0					22																	39141779		2203	4300	6503	SO:0001819	synonymous_variant	25777				centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding	g.chr22:39141779G>A	AF202723	CCDS13978.1, CCDS56231.1	22q12-q13	2010-05-18	2010-05-18	2010-01-27	ENSG00000100242	ENSG00000100242			14210	protein-coding gene	gene with protein product		613569	"""unc-84 homolog B (C. elegans)"""	UNC84B		10508607, 10375507	Standard	NM_015374		Approved		uc010gxq.2	Q9UH99	OTTHUMG00000151031	ENST00000405510.1:c.723C>T	22.37:g.39141779G>A						SUN2_ENST00000411587.2_Silent_p.F230F|SUN2_ENST00000406622.1_Silent_p.F241F|SUN2_ENST00000405018.1_Silent_p.F262F|SUN2_ENST00000216064.4_Silent_p.F241F|RP3-508I15.14_ENST00000416406.1_RNA	p.F241F	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN			9	1081	-			241					B0QY62|O75156|Q2NKN8|Q2T9F7|Q504T5|Q6B4H1|Q7Z3E3	Silent	SNP	ENST00000405510.1	37	c.723C>T	CCDS13978.1	.	.	.	.	.	.	.	.	.	.	G	9.056	0.993312	0.19043	.	.	ENSG00000100242	ENST00000430185	.	.	.	5.35	0.66	0.17868	.	.	.	.	.	T	0.55353	0.1915	.	.	.	0.47441	D	0.999422	.	.	.	.	.	.	T	0.45731	-0.9241	4	.	.	.	-5.8161	8.669	0.34138	0.0854:0.4544:0.4602:0.0	.	.	.	.	F	98	.	.	S	-	2	0	SUN2	37471725	0.976000	0.34144	0.133000	0.22050	0.980000	0.70556	0.825000	0.27393	-0.030000	0.13804	-0.165000	0.13383	TCC		0.612	SUN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321057.1	XM_039332		4	11	0	0	0	1	0	4	11				
MYH4	4622	broad.mit.edu	37	17	10353814	10353814	+	Silent	SNP	G	G	A	rs375911403		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr17:10353814G>A	ENST00000255381.2	-	30	4247	c.4137C>T	c.(4135-4137)taC>taT	p.Y1379Y	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1379					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CGTCCGTCTCGTACTTGGTCC	0.557																																						ENST00000255381.2																			0				NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						c.(4135-4137)taC>taT		myosin, heavy chain 4, skeletal muscle							178.0	156.0	163.0					17																	10353814		2203	4300	6503	SO:0001819	synonymous_variant	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10353814G>A		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.4137C>T	17.37:g.10353814G>A						CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.Y1379Y	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN			30	4247	-			1379						Silent	SNP	ENST00000255381.2	37	c.4137C>T	CCDS11154.1																																																																																				0.557	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		5	116	0	0	0	1	0	5	116				
STRA6	64220	broad.mit.edu	37	15	74472523	74472523	+	Silent	SNP	G	G	A	rs551686188		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr15:74472523G>A	ENST00000323940.5	-	19	2147	c.1902C>T	c.(1900-1902)cgC>cgT	p.R634R	STRA6_ENST00000574439.1_5'UTR|RP11-665J16.1_ENST00000561647.1_RNA|STRA6_ENST00000416286.3_Silent_p.R626R|STRA6_ENST00000449139.2_Silent_p.R634R|STRA6_ENST00000423167.2_Silent_p.R625R|STRA6_ENST00000535552.1_Silent_p.R671R|STRA6_ENST00000563965.1_Silent_p.R673R|STRA6_ENST00000574278.1_Silent_p.R649R|STRA6_ENST00000395105.4_Silent_p.R634R	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN	stimulated by retinoic acid 6	634					adrenal gland development (GO:0030325)|alveolar primary septum development (GO:0061143)|artery morphogenesis (GO:0048844)|blood vessel development (GO:0001568)|cognition (GO:0050890)|developmental growth (GO:0048589)|diaphragm development (GO:0060539)|digestive tract morphogenesis (GO:0048546)|ductus arteriosus closure (GO:0097070)|ear development (GO:0043583)|embryonic camera-type eye formation (GO:0060900)|embryonic digestive tract development (GO:0048566)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|feeding behavior (GO:0007631)|female genitalia development (GO:0030540)|head development (GO:0060322)|head morphogenesis (GO:0060323)|heart development (GO:0007507)|kidney development (GO:0001822)|learning (GO:0007612)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung vasculature development (GO:0060426)|neuromuscular process (GO:0050905)|nose morphogenesis (GO:0043585)|paramesonephric duct development (GO:0061205)|phototransduction, visible light (GO:0007603)|positive regulation of behavior (GO:0048520)|positive regulation of JAK-STAT cascade (GO:0046427)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol transport (GO:0034633)|smooth muscle tissue development (GO:0048745)|uterus morphogenesis (GO:0061038)|ventricular septum development (GO:0003281)|vitamin A import (GO:0071939)|vocal learning (GO:0042297)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	receptor activity (GO:0004872)|vitamin transporter activity (GO:0051183)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						GAGCCCTGCCGCGGCTGGCCC	0.632																																						ENST00000323940.5																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2)	26						c.(1900-1902)cgC>cgT		stimulated by retinoic acid 6							92.0	105.0	101.0					15																	74472523		2198	4296	6494	SO:0001819	synonymous_variant	64220				adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning	integral to membrane|plasma membrane|protein complex	receptor activity	g.chr15:74472523G>A	AF352728	CCDS10261.1, CCDS45301.1, CCDS45302.1, CCDS55973.1, CCDS55974.1, CCDS58387.1	15q24.1	2014-07-14	2012-12-07		ENSG00000137868	ENSG00000137868			30650	protein-coding gene	gene with protein product	"""retinol binding protein 4 receptor"""	610745	"""stimulated by retinoic acid gene 6 homolog (mouse)"", ""stimulated by retinoic acid 6 homolog (mouse)"""			17255476, 17273977	Standard	NM_022369		Approved	FLJ12541	uc002axj.3	Q9BX79	OTTHUMG00000138998	ENST00000323940.5:c.1902C>T	15.37:g.74472523G>A						STRA6_ENST00000574278.1_Silent_p.R649R|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000449139.2_Silent_p.R634R|STRA6_ENST00000563965.1_Silent_p.R673R|STRA6_ENST00000535552.1_Silent_p.R671R|STRA6_ENST00000423167.2_Silent_p.R625R|STRA6_ENST00000416286.3_Silent_p.R626R|STRA6_ENST00000395105.4_Silent_p.R634R	p.R634R	NM_001142617.1|NM_001142618.1|NM_001142619.1	NP_001136089.1|NP_001136090.1|NP_001136091.1	Q9BX79	STRA6_HUMAN			19	2147	-			634					A8K7F1|B7Z5M9|B7Z862|D3DW54|F5GYI8|I3L1G8|Q6PJF8|Q71RB9|Q7L9G1|Q7Z3U9|Q8TB21|Q9BX78|Q9H9U8	Silent	SNP	ENST00000323940.5	37	c.1902C>T	CCDS10261.1																																																																																				0.632	STRA6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272891.1			24	100	0	0	0	1	0	24	100				
CNKSR2	22866	broad.mit.edu	37	X	21450761	21450761	+	Missense_Mutation	SNP	C	C	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chrX:21450761C>A	ENST00000379510.3	+	3	296	c.260C>A	c.(259-261)aCc>aAc	p.T87N	CNKSR2_ENST00000543067.1_Missense_Mutation_p.T87N|CNKSR2_ENST00000279451.4_Missense_Mutation_p.T87N|CNKSR2_ENST00000425654.2_Missense_Mutation_p.T87N	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	87	CRIC. {ECO:0000255|PROSITE- ProRule:PRU00621}.				regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.T87N(2)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AATCTAAAAACCCTTTCTCAC	0.328																																						ENST00000425654.2																			2	Substitution - Missense(2)	p.T87N(2)	prostate(1)|kidney(1)	breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						c.(259-261)aCc>aAc		connector enhancer of kinase suppressor of Ras 2							62.0	69.0	67.0					X																	21450761		2203	4300	6503	SO:0001583	missense	22866				regulation of signal transduction	cytoplasm|membrane	protein binding	g.chrX:21450761C>A	AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.260C>A	X.37:g.21450761C>A	ENSP00000368824:p.Thr87Asn					CNKSR2_ENST00000379510.3_Missense_Mutation_p.T87N|CNKSR2_ENST00000543067.1_Missense_Mutation_p.T87N|CNKSR2_ENST00000279451.4_Missense_Mutation_p.T87N	p.T87N	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN			3	740	+			87			CRIC.		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	c.260C>A	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242689	0.39598	.	.	ENSG00000149970	ENST00000425654;ENST00000543067;ENST00000279451;ENST00000379510	T;T;T;T	0.19250	2.43;2.17;2.16;2.43	4.76	4.76	0.60689	CRIC domain (1);CRIC domain, Chordata (1);	0.000000	0.85682	D	0.000000	T	0.28466	0.0704	N	0.11927	0.2	0.58432	D	0.999999	D;B;B	0.89917	1.0;0.333;0.236	D;B;B	0.83275	0.996;0.326;0.173	T	0.19451	-1.0305	10	0.25751	T	0.34	-0.0541	17.1028	0.86654	0.0:1.0:0.0:0.0	.	87;87;87	B7ZLJ1;B4DGR4;Q8WXI2	.;.;CNKR2_HUMAN	N	87	ENSP00000397906:T87N;ENSP00000444633:T87N;ENSP00000279451:T87N;ENSP00000368824:T87N	ENSP00000279451:T87N	T	+	2	0	CNKSR2	21360682	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.344000	0.79328	1.958000	0.56883	0.363000	0.22086	ACC		0.328	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1	NM_014927		6	53	1	0	0.0215528	1	0.0215528	6	53				
ACSBG1	23205	broad.mit.edu	37	15	78473256	78473256	+	Missense_Mutation	SNP	C	C	T	rs143166464		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr15:78473256C>T	ENST00000258873.4	-	9	1299	c.1094G>A	c.(1093-1095)cGg>cAg	p.R365Q	ACSBG1_ENST00000541759.1_Missense_Mutation_p.R123Q|ACSBG1_ENST00000560817.1_Missense_Mutation_p.R123Q	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	365					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTCCACCTCCCGCAGCGTGTT	0.647																																						ENST00000258873.4																			0				endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						c.(1093-1095)cGg>cAg		acyl-CoA synthetase bubblegum family member 1		C	GLN/ARG,GLN/ARG	1,4391	2.1+/-5.4	0,1,2195	72.0	64.0	66.0		1082,1094	4.6	1.0	15	dbSNP_134	66	0,8586		0,0,4293	no	missense,missense	ACSBG1	NM_001199377.1,NM_015162.4	43,43	0,1,6488	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging,possibly-damaging	361/721,365/725	78473256	1,12977	2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78473256C>T	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1094G>A	15.37:g.78473256C>T	ENSP00000258873:p.Arg365Gln					ACSBG1_ENST00000541759.1_Missense_Mutation_p.R123Q|ACSBG1_ENST00000560817.1_Missense_Mutation_p.R123Q	p.R365Q	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN			9	1299	-			365					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.1094G>A	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	C	13.13	2.146511	0.37923	2.28E-4	0.0	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.39592	1.07;1.07	5.48	4.55	0.56014	AMP-dependent synthetase/ligase (1);	0.126462	0.49305	D	0.000160	T	0.21718	0.0523	N	0.21097	0.63	0.33430	D	0.581016	P;B	0.41947	0.766;0.112	B;B	0.35770	0.21;0.03	T	0.19095	-1.0316	10	0.05833	T	0.94	-47.3661	10.6726	0.45768	0.0:0.852:0.0:0.148	.	361;365	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	Q	365;123	ENSP00000258873:R365Q;ENSP00000439955:R123Q	ENSP00000258873:R365Q	R	-	2	0	ACSBG1	76260311	0.990000	0.36364	1.000000	0.80357	0.991000	0.79684	1.240000	0.32731	2.576000	0.86940	0.655000	0.94253	CGG		0.647	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		10	24	0	0	0	1	0	10	24				
PCDH11X	27328	broad.mit.edu	37	X	91090586	91090586	+	Missense_Mutation	SNP	A	A	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chrX:91090586A>T	ENST00000373094.1	+	1	928	c.83A>T	c.(82-84)tAc>tTc	p.Y28F	PCDH11X_ENST00000361724.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000395337.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000504220.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Y28F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	28	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAGAAAAACTACACCATCCGA	0.488																																					NSCLC(38;925 1092 2571 38200 45895)	ENST00000373094.1																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						c.(82-84)tAc>tTc		protocadherin 11 X-linked							138.0	104.0	116.0					X																	91090586		2203	4300	6503	SO:0001583	missense	27328				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	g.chrX:91090586A>T	AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.83A>T	X.37:g.91090586A>T	ENSP00000362186:p.Tyr28Phe					PCDH11X_ENST00000395337.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000298274.8_Missense_Mutation_p.Y28F|PCDH11X_ENST00000361724.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373088.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000361655.2_Missense_Mutation_p.Y28F|PCDH11X_ENST00000406881.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000373097.1_Missense_Mutation_p.Y28F|PCDH11X_ENST00000504220.1_Missense_Mutation_p.Y28F	p.Y28F	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN			1	928	+			28			Cadherin 1.		A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	c.83A>T	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	19.70	3.877144	0.72180	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6;0.6	3.93	3.93	0.45458	Cadherin, N-terminal (1);Cadherin (2);	0.000000	0.64402	D	0.000001	T	0.70613	0.3244	M	0.76938	2.355	0.45108	D	0.99812	D;P;D;D;D;D;D;D	0.76494	0.999;0.854;0.999;0.999;0.999;0.999;0.999;0.999	D;P;D;D;D;D;D;D	0.91635	0.998;0.747;0.998;0.998;0.998;0.999;0.998;0.998	T	0.74691	-0.3580	10	0.87932	D	0	.	11.4509	0.50151	1.0:0.0:0.0:0.0	.	28;28;28;28;28;28;28;28	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	F	28	ENSP00000378746:Y28F;ENSP00000362186:Y28F;ENSP00000362189:Y28F;ENSP00000355040:Y28F;ENSP00000362180:Y28F;ENSP00000423762:Y28F;ENSP00000355105:Y28F;ENSP00000384758:Y28F;ENSP00000298274:Y28F	ENSP00000298274:Y28F	Y	+	2	0	PCDH11X	90977242	1.000000	0.71417	0.772000	0.31596	0.884000	0.51177	8.349000	0.90067	1.555000	0.49500	0.339000	0.21740	TAC		0.488	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969		15	21	0	0	0	1	0	15	21				
FLG2	388698	broad.mit.edu	37	1	152324525	152324525	+	Missense_Mutation	SNP	A	A	C			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:152324525A>C	ENST00000388718.5	-	3	5809	c.5737T>G	c.(5737-5739)Tcc>Gcc	p.S1913A	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1913					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACTGTGGATTCTGACTCT	0.512																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(5737-5739)Tcc>Gcc		filaggrin family member 2							368.0	330.0	343.0					1																	152324525		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152324525A>C	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.5737T>G	1.37:g.152324525A>C	ENSP00000373370:p.Ser1913Ala					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.S1913A	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5809	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1913					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.5737T>G	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	A	9.978	1.227392	0.22542	.	.	ENSG00000143520	ENST00000388718	T	0.07444	3.19	3.6	2.42	0.29668	.	.	.	.	.	T	0.02688	0.0081	L	0.61218	1.895	0.09310	N	1	B	0.25235	0.121	B	0.27715	0.082	T	0.46373	-0.9196	9	0.13108	T	0.6	0.6413	6.9317	0.24445	0.7635:0.2365:0.0:0.0	.	1913	Q5D862	FILA2_HUMAN	A	1913	ENSP00000373370:S1913A	ENSP00000373370:S1913A	S	-	1	0	FLG2	150591149	0.003000	0.15002	0.023000	0.16930	0.106000	0.19336	0.257000	0.18369	0.561000	0.29186	0.449000	0.29647	TCC		0.512	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		4	249	0	0	0	1	0	4	249				
MAGEA6	4105	broad.mit.edu	37	X	151869898	151869898	+	Missense_Mutation	SNP	G	G	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chrX:151869898G>T	ENST00000329342.5	+	3	813	c.588G>T	c.(586-588)atG>atT	p.M196I		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	196	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					ATCAGATCATGCCCAAGACAG	0.557																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(586-588)atG>atT		melanoma antigen family A, 6							123.0	118.0	120.0					X																	151869898		2202	4298	6500	SO:0001583	missense	4105						protein binding	g.chrX:151869898G>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.588G>T	X.37:g.151869898G>T	ENSP00000329199:p.Met196Ile						p.M196I	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	813	+	Acute lymphoblastic leukemia(192;6.56e-05)		196			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.588G>T	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	g	4.435	0.080456	0.08533	.	.	ENSG00000197172	ENST00000329342;ENST00000412733;ENST00000457643	T;T;T	0.04654	3.58;3.58;3.58	0.605	-0.954	0.10359	.	.	.	.	.	T	0.06188	0.0160	M	0.67625	2.065	0.09310	N	1	B	0.15473	0.013	B	0.17722	0.019	T	0.35251	-0.9796	8	0.52906	T	0.07	.	.	.	.	.	196	P43360	MAGA6_HUMAN	I	196	ENSP00000329199:M196I;ENSP00000403303:M196I;ENSP00000401806:M196I	ENSP00000329199:M196I	M	+	3	0	MAGEA6	151620554	0.038000	0.19896	0.005000	0.12908	0.022000	0.10575	0.072000	0.14617	-0.394000	0.07727	0.181000	0.17075	ATG		0.557	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		43	46	1	0	6.2361e-21	1	6.96123e-21	43	46				
MLLT3	4300	broad.mit.edu	37	9	20414313	20414313	+	Silent	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr9:20414313G>A	ENST00000380338.4	-	5	817	c.531C>T	c.(529-531)agC>agT	p.S177S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		0				central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(529-531)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							22.0	31.0	28.0					9																	20414313		2066	3973	6039	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414313G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.531C>T	9.37:g.20414313G>A						MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S|MLLT3_ENST00000355930.6_5'UTR	p.S177S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	817	-			177			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.531C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	103	0	0	0	1	0	4	103				
KGFLP2	654466	broad.mit.edu	37	9	41962602	41962602	+	lincRNA	SNP	G	G	T	rs201713470	byFrequency	TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr9:41962602G>T	ENST00000454645.1	-	0	902					NR_003670.1																						TTCTTTCTTTGTTTTTTTTCC	0.373																																						ENST00000454645.1																			0																																																			0							g.chr9:41962602G>T																													9.37:g.41962602G>T								NR_003670.1						0	902	-									RNA	SNP	ENST00000454645.1	37																																																																																						0.373	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			5	60	1	0	8.12818e-05	1	8.48158e-05	5	60				
HAPLN1	1404	broad.mit.edu	37	5	82948496	82948496	+	Missense_Mutation	SNP	T	T	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr5:82948496T>A	ENST00000274341.4	-	3	1098	c.248A>T	c.(247-249)aAg>aTg	p.K83M	HAPLN1_ENST00000514416.1_Missense_Mutation_p.K83M	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	83	Ig-like V-type.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	Hyaluronan(DB08818)	CGAAGTTAGCTTGGTCCACTT	0.423																																						ENST00000274341.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34						c.(247-249)aAg>aTg		hyaluronan and proteoglycan link protein 1							118.0	110.0	113.0					5																	82948496		2203	4300	6503	SO:0001583	missense	1404				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr5:82948496T>A		CCDS4061.1	5q14.3	2013-01-11	2004-03-16	2004-03-17	ENSG00000145681	ENSG00000145681		"""Immunoglobulin superfamily / V-set domain containing"""	2380	protein-coding gene	gene with protein product	"""Cartilage link protein"", ""hyaluronan and proteoglycan link protein 1"""	115435	"""cartilage linking protein 1"""	CRTL1		2286376, 2320422	Standard	NM_001884		Approved		uc003kin.3	P10915	OTTHUMG00000119045	ENST00000274341.4:c.248A>T	5.37:g.82948496T>A	ENSP00000274341:p.Lys83Met					HAPLN1_ENST00000514416.1_Missense_Mutation_p.K83M	p.K83M	NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)	3	1098	-		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)	83			Ig-like V-type.		B2R9A9	Missense_Mutation	SNP	ENST00000274341.4	37	c.248A>T	CCDS4061.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552836	0.86127	.	.	ENSG00000145681	ENST00000274341;ENST00000510978;ENST00000508307;ENST00000503117;ENST00000504713;ENST00000514416;ENST00000515590	T;T;T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61;-0.61;-0.61	6.07	6.07	0.98685	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86451	0.5936	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88471	0.3062	10	0.72032	D	0.01	.	16.6277	0.84984	0.0:0.0:0.0:1.0	.	83	P10915	HPLN1_HUMAN	M	83;83;83;82;83;83;83	ENSP00000274341:K83M;ENSP00000422592:K83M;ENSP00000421341:K83M;ENSP00000426610:K82M;ENSP00000422522:K83M;ENSP00000421726:K83M;ENSP00000423836:K83M	ENSP00000274341:K83M	K	-	2	0	HAPLN1	82984252	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.830000	0.62745	2.330000	0.79161	0.528000	0.53228	AAG		0.423	HAPLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239256.2	NM_001884		4	95	0	0	0	1	0	4	95				
SLC6A6	6533	broad.mit.edu	37	3	14489110	14489110	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr3:14489110G>A	ENST00000454876.2	+	5	714	c.385G>A	c.(385-387)Gta>Ata	p.V129I	SLC6A6_ENST00000416216.2_Missense_Mutation_p.V129I|SLC6A6_ENST00000360861.3_Missense_Mutation_p.V129I|SLC6A6_ENST00000484191.1_3'UTR			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	129					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						TGCCTCCGTTGTAATTGTGTC	0.547																																						ENST00000454876.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						c.(385-387)Gta>Ata		solute carrier family 6 (neurotransmitter transporter), member 6							414.0	395.0	401.0					3																	14489110		2203	4300	6503	SO:0001583	missense	6533				cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity	g.chr3:14489110G>A		CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.385G>A	3.37:g.14489110G>A	ENSP00000398063:p.Val129Ile					SLC6A6_ENST00000416216.2_Missense_Mutation_p.V129I|SLC6A6_ENST00000360861.3_Missense_Mutation_p.V129I|SLC6A6_ENST00000484191.1_3'UTR	p.V129I			P31641	SC6A6_HUMAN			5	714	+			129					B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	ENST00000454876.2	37	c.385G>A	CCDS33705.1	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034437	0.35893	.	.	ENSG00000131389	ENST00000454876;ENST00000360861;ENST00000416216	T;T;T	0.75367	-0.93;-0.93;-0.93	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.66208	0.2766	L	0.31664	0.95	0.80722	D	1	B	0.15473	0.013	B	0.20955	0.032	T	0.60525	-0.7246	10	0.30854	T	0.27	.	18.4286	0.90617	0.0:0.0:1.0:0.0	.	129	P31641	SC6A6_HUMAN	I	129	ENSP00000398063:V129I;ENSP00000354107:V129I;ENSP00000401167:V129I	ENSP00000354107:V129I	V	+	1	0	SLC6A6	14464114	1.000000	0.71417	0.997000	0.53966	0.163000	0.22366	9.612000	0.98347	2.355000	0.79922	0.536000	0.68110	GTA		0.547	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340507.1	NM_003043		11	431	0	0	0	1	0	11	431				
SDHAP1	255812	broad.mit.edu	37	3	195711423	195711423	+	RNA	SNP	A	A	G	rs201502468		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr3:195711423A>G	ENST00000427841.1	-	0	524					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		CTCTTGTACTAGAAACAGACC	0.552																																					Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711423A>G	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711423A>G								NR_003264.2						0	524	-									RNA	SNP	ENST00000427841.1	37																																																																																						0.552	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			4	31	0	0	0	1	0	4	31				
KIF1C	10749	broad.mit.edu	37	17	4927021	4927021	+	Missense_Mutation	SNP	C	C	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr17:4927021C>T	ENST00000320785.5	+	23	3244	c.2887C>T	c.(2887-2889)Cgc>Tgc	p.R963C		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	963					ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)	p.R963C(1)		NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CGGGGGGCTGCGCAGGCCCCC	0.697																																					Melanoma(96;1023 1447 10250 19259 33730)	ENST00000320785.5																			1	Substitution - Missense(1)	p.R963C(1)	large_intestine(1)	NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						c.(2887-2889)Cgc>Tgc		kinesin family member 1C							11.0	14.0	13.0					17																	4927021		2114	4142	6256	SO:0001583	missense	10749				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity	g.chr17:4927021C>T	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.2887C>T	17.37:g.4927021C>T	ENSP00000320821:p.Arg963Cys						p.R963C	NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN			23	3244	+			963					D3DTL6|O75186|Q5U618	Missense_Mutation	SNP	ENST00000320785.5	37	c.2887C>T	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.123791	0.56613	.	.	ENSG00000129250	ENST00000320785	T	0.74106	-0.81	4.93	4.93	0.64822	.	.	.	.	.	T	0.71517	0.3349	L	0.29908	0.895	0.46437	D	0.999045	D	0.76494	0.999	P	0.50082	0.63	T	0.75918	-0.3148	9	0.72032	D	0.01	.	15.6642	0.77213	0.0:1.0:0.0:0.0	.	963	O43896	KIF1C_HUMAN	C	963	ENSP00000320821:R963C	ENSP00000320821:R963C	R	+	1	0	KIF1C	4867745	0.947000	0.32204	1.000000	0.80357	0.969000	0.65631	1.993000	0.40747	2.558000	0.86282	0.655000	0.94253	CGC		0.697	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1			7	19	0	0	0	1	0	7	19				
TEKT4P2	100132288	broad.mit.edu	37	21	9907345	9907345	+	RNA	SNP	C	C	T	rs3694	byFrequency	TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr21:9907345C>T	ENST00000416067.1	-	0	1447					NR_037872.1|NR_038327.1				tektin 4 pseudogene 2																		ATGGCAGTGACGTCCTTCTCC	0.577																																						ENST00000416067.1																			0																																																			0							g.chr21:9907345C>T			21p11.2	2012-10-03	2011-06-14	2011-06-14	ENSG00000188681	ENSG00000188681			40046	pseudogene	pseudogene			"""MAFF interacting protein-like"""	MAFIPL			Standard	NR_038327		Approved		uc021wgx.1		OTTHUMG00000172149		21.37:g.9907345C>T								NR_037872.1|NR_038327.1						0	1447	-									RNA	SNP	ENST00000416067.1	37			.	.	.	.	.	.	.	.	.	.	.	1.184	-0.637225	0.03557	.	.	ENSG00000188681	ENST00000400754	.	.	.	0.109	-0.218	0.13142	.	.	.	.	.	T	0.29817	0.0745	.	.	.	.	.	.	.	.	.	.	.	.	T	0.32322	-0.9911	3	.	.	.	.	3.9415	0.09329	0.0:0.3183:0.0:0.6817	.	.	.	.	I	93	.	.	V	-	1	0	CR392039.1	.	0.957000	0.32711	0.014000	0.15608	0.015000	0.08874	0.675000	0.25232	-1.484000	0.01856	-1.499000	0.00960	GTC		0.577	TEKT4P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417115.1	NM_001033515		6	11	0	0	0	1	0	6	11				
DNM3	26052	broad.mit.edu	37	1	172278018	172278018	+	Intron	SNP	G	G	C			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:172278018G>C	ENST00000355305.5	+	17	2068				DNM3_ENST00000367731.1_Intron|DNM3_ENST00000358155.4_Intron|DNM3_ENST00000520906.1_Nonstop_Mutation_p.*640Y			Q9UQ16	DYN3_HUMAN	dynamin 3						endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATTATTATTAGCTATGCTTAA	0.338																																						ENST00000520906.1																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1918-1920)taG>taC		dynamin 3							28.0	27.0	27.0					1																	172278018		1805	4070	5875	SO:0001627	intron_variant	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:172278018G>C	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.1911+39G>C	1.37:g.172278018G>C						DNM3_ENST00000358155.4_Intron|DNM3_ENST00000367731.1_Intron|DNM3_ENST00000355305.5_Intron	p.*640Y			Q9UQ16	DYN3_HUMAN			16	2048	+			0					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Nonstop_Mutation	SNP	ENST00000355305.5	37	c.1920G>C		.	.	.	.	.	.	.	.	.	.	G	3.607	-0.080421	0.07141	.	.	ENSG00000197959	ENST00000520906	.	.	.	5.51	0.615	0.17608	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.0385	0.42144	0.7362:0.0:0.2638:0.0	.	.	.	.	Y	640	.	.	X	+	3	2	DNM3	170544641	0.000000	0.05858	0.003000	0.11579	0.029000	0.11900	0.024000	0.13555	-0.123000	0.11745	-0.302000	0.09304	TAG		0.338	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		4	11	0	0	0	1	0	4	11				
DDX23	9416	broad.mit.edu	37	12	49233652	49233652	+	Missense_Mutation	SNP	T	T	C			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr12:49233652T>C	ENST00000308025.3	-	5	534	c.455A>G	c.(454-456)aAg>aGg	p.K152R	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	152	Glu-rich.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TTCCTCAGCCTTTTTCTTGGC	0.463																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(454-456)aAg>aGg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							109.0	103.0	105.0					12																	49233652		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49233652T>C	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.455A>G	12.37:g.49233652T>C	ENSP00000310723:p.Lys152Arg					DDX23_ENST00000553182.1_5'UTR	p.K152R	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			5	534	-			152			Glu-rich.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.455A>G	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.276770	0.80580	.	.	ENSG00000174243	ENST00000308025;ENST00000552512	T	0.22134	1.97	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.27278	0.0669	N	0.16743	0.435	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.05533	-1.0879	9	.	.	.	-22.6793	14.1164	0.65156	0.0:0.0:0.0:1.0	.	152	Q9BUQ8	DDX23_HUMAN	R	152	ENSP00000310723:K152R	.	K	-	2	0	DDX23	47519919	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.188000	0.77739	2.321000	0.78463	0.529000	0.55759	AAG		0.463	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		3	38	0	0	0	1	0	3	38				
GBF1	8729	broad.mit.edu	37	10	104140091	104140091	+	Missense_Mutation	SNP	A	A	G			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr10:104140091A>G	ENST00000369983.3	+	37	5221	c.4961A>G	c.(4960-4962)tAc>tGc	p.Y1654C		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1654					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ATGGACAAGTACATGCACGCA	0.577																																						ENST00000369983.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71						c.(4960-4962)tAc>tGc		golgi brefeldin A resistant guanine nucleotide exchange factor 1							159.0	146.0	150.0					10																	104140091		2203	4300	6503	SO:0001583	missense	8729				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding	g.chr10:104140091A>G	D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4961A>G	10.37:g.104140091A>G	ENSP00000359000:p.Tyr1654Cys						p.Y1654C	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)	37	5221	+		Colorectal(252;0.0236)	1654					Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Missense_Mutation	SNP	ENST00000369983.3	37	c.4961A>G	CCDS7533.1	.	.	.	.	.	.	.	.	.	.	A	16.99	3.274236	0.59649	.	.	ENSG00000107862	ENST00000369983	T	0.11277	2.79	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.26521	0.0648	L	0.45581	1.43	0.80722	D	1	D;B;D	0.89917	1.0;0.327;0.999	D;B;D	0.80764	0.99;0.156;0.994	T	0.00807	-1.1558	10	0.29301	T	0.29	-13.1282	16.3483	0.83171	1.0:0.0:0.0:0.0	.	1650;1650;1654	Q149P1;Q149P0;Q92538	.;.;GBF1_HUMAN	C	1654	ENSP00000359000:Y1654C	ENSP00000359000:Y1654C	Y	+	2	0	GBF1	104130081	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.152000	0.94680	2.254000	0.74563	0.533000	0.62120	TAC		0.577	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050051.1			20	63	0	0	0	1	0	20	63				
IGDCC3	9543	broad.mit.edu	37	15	65627682	65627682	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr15:65627682G>A	ENST00000327987.4	-	4	883	c.632C>T	c.(631-633)gCc>gTc	p.A211V	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	211	Ig-like C2-type 2.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATGTTTGAGGCCACACAGTG	0.597																																						ENST00000327987.4																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						c.(631-633)gCc>gTc		immunoglobulin superfamily, DCC subclass, member 3							167.0	140.0	149.0					15																	65627682		2201	4299	6500	SO:0001583	missense	9543							g.chr15:65627682G>A	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.632C>T	15.37:g.65627682G>A	ENSP00000332773:p.Ala211Val						p.A211V	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN			4	883	-			211			Ig-like C2-type 2.		O95215	Missense_Mutation	SNP	ENST00000327987.4	37	c.632C>T	CCDS10205.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.000295	0.93227	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.72505	-0.66	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86347	0.5911	M	0.88842	2.985	0.80722	D	1	D	0.67145	0.996	D	0.68353	0.957	D	0.87519	0.2445	10	0.49607	T	0.09	-37.7221	18.1992	0.89832	0.0:0.0:1.0:0.0	.	211	Q8IVU1	IGDC3_HUMAN	V	211;74	ENSP00000332773:A211V	ENSP00000332773:A211V	A	-	2	0	IGDCC3	63414735	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	9.478000	0.97927	2.568000	0.86640	0.655000	0.94253	GCC		0.597	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256826.1	NM_004884		8	49	0	0	0	1	0	8	49				
GCNT2	2651	broad.mit.edu	37	6	10586309	10586309	+	Intron	SNP	G	G	A	rs201305914		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr6:10586309G>A	ENST00000379597.3	+	2	1481				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000265012.4_Silent_p.P29P|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000410107.1_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AATTGAGCCCGCCAAAAAGTT	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20608	0.0		0.0	False		,,,				2504	0.0					ENST00000265012.4																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(85-87)ccG>ccA		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							138.0	133.0	135.0					6																	10586309		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10586309G>A	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.926-35275G>A	6.37:g.10586309G>A						GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron	p.P29P	NM_145655.3	NP_663630.2	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	331	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	30						Silent	SNP	ENST00000379597.3	37	c.87G>A	CCDS34338.1																																																																																				0.403	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	NM_145649		4	116	0	0	0	1	0	4	116				
MINA	84864	broad.mit.edu	37	3	97668717	97668717	+	Missense_Mutation	SNP	G	G	A	rs149644546		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr3:97668717G>A	ENST00000333396.7	-	7	1613	c.1031C>T	c.(1030-1032)gCg>gTg	p.A344V	MINA_ENST00000360258.4_Missense_Mutation_p.A343V|MINA_ENST00000394198.2_Missense_Mutation_p.A344V	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3			MYC induced nuclear antigen											breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CCCATCTCCCGCAGAGTAAGG	0.517																																						ENST00000333396.6																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						c.(1030-1032)gCg>gTg		MYC induced nuclear antigen		G	VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	66.0	66.0	66.0		1031,1028,1031	-6.4	0.0	3	dbSNP_134	66	0,8600		0,0,4300	no	missense,missense,missense	MINA	NM_001042533.1,NM_032778.4,NM_153182.2	64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign	344/466,343/465,344/466	97668717	1,13005	2203	4300	6503	SO:0001583	missense	84864				ribosome biogenesis	cytoplasm|nucleolus		g.chr3:97668717G>A	AB083189	CCDS2929.1, CCDS43114.1	3q22.1	2005-07-22			ENSG00000170854	ENSG00000170854			19441	protein-coding gene	gene with protein product		612049				12091391	Standard	NM_001042533		Approved	MINA53, FLJ14393, mdig	uc003dsb.1	Q8IUF8	OTTHUMG00000160107	ENST00000333396.7:c.1031C>T	3.37:g.97668717G>A	ENSP00000328251:p.Ala344Val					MINA_ENST00000360258.4_Missense_Mutation_p.A343V|MINA_ENST00000394198.2_Missense_Mutation_p.A344V	p.A344V	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN			7	1613	-			344						Missense_Mutation	SNP	ENST00000333396.7	37	c.1031C>T	CCDS43114.1	.	.	.	.	.	.	.	.	.	.	G	8.672	0.903036	0.17760	2.27E-4	0.0	ENSG00000170854	ENST00000442492;ENST00000333396;ENST00000394198;ENST00000360258	T;T;T	0.17528	2.27;2.27;2.27	5.95	-6.38	0.01957	Cupin, JmjC-type (1);	1.613870	0.02999	N	0.147881	T	0.04952	0.0133	N	0.01109	-1.01	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.34279	-0.9835	10	0.28530	T	0.3	0.4742	6.5582	0.22471	0.6632:0.0:0.176:0.1609	.	343;344	Q8IUF8-4;Q8IUF8	.;MINA_HUMAN	V	90;344;344;343	ENSP00000328251:A344V;ENSP00000377748:A344V;ENSP00000353395:A343V	ENSP00000328251:A344V	A	-	2	0	MINA	99151407	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.070000	0.11523	-1.102000	0.03023	-0.793000	0.03317	GCG		0.517	MINA-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359244.3	NM_032778		10	46	0	0	0	1	0	10	46				
CHMP3	51652	broad.mit.edu	37	2	86790451	86790451	+	Silent	SNP	G	G	C			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr2:86790451G>C	ENST00000263856.4	-	1	149	c.21C>G	c.(19-21)acC>acG	p.T7T	CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000409225.2_5'UTR|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000409727.1_Silent_p.T7T	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1	Q9Y3E7	CHMP3_HUMAN	charged multivesicular body protein 3	7	Intramolecular interaction with C- terminus.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)											GCTTCTCCTGGGTCTTTCCAA	0.622																																						ENST00000263856.4																			0											c.(19-21)acC>acG		charged multivesicular body protein 3							123.0	127.0	126.0					2																	86790451		2203	4300	6503	SO:0001819	synonymous_variant	51652							g.chr2:86790451G>C	AF219226	CCDS33236.1, CCDS42707.1, CCDS54375.1	2p11.2	2011-09-21	2011-09-21	2011-09-21	ENSG00000115561	ENSG00000115561		"""Charged multivesicular body proteins"""	29865	protein-coding gene	gene with protein product		610052	"""vacuolar protein sorting 24 (yeast)"", ""vacuolar protein sorting 24 homolog (S. cerevisiae)"""	VPS24		11549700, 12878588	Standard	NM_016079		Approved	NEDF, CGI-149		Q9Y3E7	OTTHUMG00000153189	ENST00000263856.4:c.21C>G	2.37:g.86790451G>C						RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000409727.1_Silent_p.T7T|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000409225.2_5'UTR	p.T7T	NM_001193517.1|NM_016079.3	NP_001180446.1|NP_057163.1					1	149	-								A8K3W0|B4DG34|B8ZZM0|B8ZZX5|Q3ZTS9|Q53S71|Q53SU5|Q9NZ51	Silent	SNP	ENST00000263856.4	37	c.21C>G	CCDS33236.1																																																																																				0.622	CHMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330015.2	NM_016079		5	128	0	0	0	1	0	5	128				
EDRF1	26098	broad.mit.edu	37	10	127429204	127429204	+	Missense_Mutation	SNP	A	A	C			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr10:127429204A>C	ENST00000356792.4	+	16	2386	c.2154A>C	c.(2152-2154)ttA>ttC	p.L718F	C10orf137_ENST00000337623.3_Missense_Mutation_p.L684F	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		718					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				ACATTAAATTAGCTTTGCAAA	0.393																																						ENST00000337623.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61						c.(2050-2052)ttA>ttC		chromosome 10 open reading frame 137							101.0	94.0	96.0					10																	127429204		2203	4300	6503	SO:0001583	missense	26098				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding	g.chr10:127429204A>C																												ENST00000356792.4:c.2154A>C	10.37:g.127429204A>C	ENSP00000349244:p.Leu718Phe					C10orf137_ENST00000356792.4_Missense_Mutation_p.L718F	p.L684F	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN			15	2157	+		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)	718					B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	c.2052A>C	CCDS55733.1	.	.	.	.	.	.	.	.	.	.	A	13.54	2.266531	0.40095	.	.	ENSG00000107938	ENST00000356792;ENST00000392732;ENST00000337623;ENST00000368813	T	0.74209	-0.82	5.77	-5.93	0.02254	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000002	T	0.80232	0.4585	M	0.70595	2.14	0.48395	D	0.999645	D;B;B;D;D	0.89917	1.0;0.02;0.36;1.0;0.999	D;B;B;D;D	0.91635	0.999;0.027;0.181;0.997;0.996	T	0.80094	-0.1526	10	0.38643	T	0.18	.	12.8246	0.57712	0.3089:0.0961:0.595:0.0	.	718;718;65;684;718	F8W695;Q3B7T1;Q5VZQ1;Q3B7T1-5;Q3B7T1-3	.;EDRF1_HUMAN;.;.;.	F	718;718;684;138	ENSP00000357803:L138F	ENSP00000336727:L684F	L	+	3	2	C10orf137	127419194	0.148000	0.22702	0.245000	0.24217	0.963000	0.63663	-0.313000	0.08103	-1.033000	0.03299	-0.263000	0.10527	TTA		0.393	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			30	93	0	0	0	1	0	30	93				
SPOP	8405	broad.mit.edu	37	17	47696432	47696432	+	Missense_Mutation	SNP	A	A	C			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr17:47696432A>C	ENST00000393328.2	-	6	756	c.391T>G	c.(391-393)Tgg>Ggg	p.W131G	SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000393331.3_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	Important for binding substrate proteins.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.W131G(2)|p.W131R(1)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TTGAATCCCCAGTCTTTGCCT	0.458										Prostate(2;0.17)																												ENST00000393331.3																			3	Substitution - Missense(3)	p.W131G(2)|p.W131R(1)	prostate(3)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(391-393)Tgg>Ggg		speckle-type POZ protein							121.0	124.0	123.0					17																	47696432		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696432A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.391T>G	17.37:g.47696432A>C	ENSP00000377001:p.Trp131Gly	Prostate(2;0.17)				SPOP_ENST00000393328.2_Missense_Mutation_p.W131G|SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G	p.W131G	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			7	861	-			131			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.391T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.058244	0.76074	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503536;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121	T;T;T;T;T;T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45;-0.45	5.41	5.41	0.78517	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	H	0.95402	3.665	0.80722	D	1	P	0.43024	0.798	P	0.47786	0.557	D	0.87031	0.2135	10	0.72032	D	0.01	0.1404	15.258	0.73599	1.0:0.0:0.0:0.0	.	131	O43791	SPOP_HUMAN	G	131;131;131;131;15;131;84;131;131;131;131	ENSP00000377001:W131G;ENSP00000377004:W131G;ENSP00000240327:W131G;ENSP00000425905:W131G;ENSP00000420908:W131G;ENSP00000426986:W131G;ENSP00000420960:W131G;ENSP00000426262:W131G;ENSP00000424119:W131G	ENSP00000240327:W131G	W	-	1	0	SPOP	45051431	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.056000	0.93881	2.261000	0.74972	0.460000	0.39030	TGG		0.458	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		10	136	0	0	0	1	0	10	136				
C1QC	714	broad.mit.edu	37	1	22974075	22974075	+	Silent	SNP	C	C	T	rs150732699		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:22974075C>T	ENST00000374639.3	+	3	655	c.537C>T	c.(535-537)tgC>tgT	p.C179C	C1QC_ENST00000374640.4_Silent_p.C179C|C1QC_ENST00000374637.1_Silent_p.C179C	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN	complement component 1, q subcomponent, C chain	179	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of macrophage differentiation (GO:0045650)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCAACCTGTGCGTGCTGCTGT	0.582																																					Ovarian(26;671 750 8290 29071 43278)	ENST00000374639.3																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15						c.(535-537)tgC>tgT		complement component 1, q subcomponent, C chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	C	,	2,4404	4.2+/-10.8	0,2,2201	106.0	94.0	98.0		537,537	4.6	1.0	1	dbSNP_134	98	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	C1QC	NM_001114101.1,NM_172369.3	,	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	,	179/246,179/246	22974075	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	714				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen		g.chr1:22974075C>T	AK057792	CCDS227.1	1p36.11	2014-09-17	2006-02-09	2006-02-09	ENSG00000159189	ENSG00000159189		"""Complement system"""	1245	protein-coding gene	gene with protein product		120575	"""complement component 1, q subcomponent, gamma polypeptide"""	C1QG		1706597	Standard	NM_001114101		Approved		uc001bga.4	P02747	OTTHUMG00000002891	ENST00000374639.3:c.537C>T	1.37:g.22974075C>T						C1QC_ENST00000374637.1_Silent_p.C179C|C1QC_ENST00000374640.4_Silent_p.C179C	p.C179C	NM_001114101.1	NP_001107573.1	P02747	C1QC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	3	655	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	179			C1q.		Q7Z502|Q96DL2|Q96H05	Silent	SNP	ENST00000374639.3	37	c.537C>T	CCDS227.1																																																																																				0.582	C1QC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008083.1	NM_172369		9	54	0	0	0	1	0	9	54				
BTBD8	284697	broad.mit.edu	37	1	92595245	92595245	+	Splice_Site	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:92595245G>A	ENST00000342818.3	+	5	900	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	BTBD8_ENST00000370382.3_Splice_Site_p.A222T|BTBD8_ENST00000540648.1_Splice_Site_p.A222T	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	222	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.					nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TCCCTTTAGGGCCATTTTGAG	0.358																																						ENST00000370382.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16						c.e5-1		BTB (POZ) domain containing 8							129.0	114.0	119.0					1																	92595245		2203	4300	6503	SO:0001630	splice_region_variant	284697					nucleus		g.chr1:92595245G>A	AY346333	CCDS737.1	1p22.1	2013-01-08			ENSG00000189195	ENSG00000189195		"""BTB/POZ domain containing"""	21019	protein-coding gene	gene with protein product						14654994	Standard	NM_183242		Approved		uc001doo.3	Q5XKL5	OTTHUMG00000010289	ENST00000342818.3:c.663-1G>A	1.37:g.92595245G>A						BTBD8_ENST00000342818.3_Splice_Site_p.A222_splice|BTBD8_ENST00000540648.1_Splice_Site_p.A222_splice	p.A222_splice			Q5XKL5	BTBD8_HUMAN		all cancers(265;0.0153)|Epithelial(280;0.0982)	5	931	+		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)	222			BTB 2.		Q6V9S5	Splice_Site	SNP	ENST00000342818.3	37	c.662_splice	CCDS737.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.835397	0.91117	.	.	ENSG00000189195	ENST00000370382;ENST00000342818;ENST00000540648	T;T;T	0.70516	-0.49;-0.49;-0.49	5.85	5.85	0.93711	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000020	T	0.82098	0.4963	M	0.80332	2.49	0.44188	D	0.997001	D	0.89917	1.0	D	0.81914	0.995	T	0.79992	-0.1569	10	0.37606	T	0.19	-4.8108	17.9307	0.88996	0.0:0.0:1.0:0.0	.	222	Q5XKL5	BTBD8_HUMAN	T	222	ENSP00000359408:A222T;ENSP00000343686:A222T;ENSP00000443397:A222T	ENSP00000343686:A222T	A	+	1	0	BTBD8	92367833	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.699000	0.74613	2.773000	0.95371	0.650000	0.86243	GCC		0.358	BTBD8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028372.1	NM_183242	Missense_Mutation	3	30	0	0	0	1	0	3	30				
FCN1	2219	broad.mit.edu	37	9	137802991	137802991	+	Missense_Mutation	SNP	C	C	T	rs149439264	byFrequency	TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr9:137802991C>T	ENST00000371806.3	-	8	812	c.721G>A	c.(721-723)Ggg>Agg	p.G241R		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	241	B domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)	p.G241R(2)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCACTGCCCCCGACAAAGGCT	0.582																																						ENST00000371806.3																			2	Substitution - Missense(2)	p.G241R(2)	endometrium(1)|kidney(1)	endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(721-723)Ggg>Agg		ficolin (collagen/fibrinogen domain containing) 1		C	ARG/GLY	3,4403	6.2+/-15.9	0,3,2200	207.0	200.0	202.0		721	2.5	0.0	9	dbSNP_134	202	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FCN1	NM_002003.3	125	0,4,6499	TT,TC,CC		0.0116,0.0681,0.0308	possibly-damaging	241/327	137802991	4,13002	2203	4300	6503	SO:0001583	missense	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137802991C>T	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.721G>A	9.37:g.137802991C>T	ENSP00000360871:p.Gly241Arg						p.G241R	NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	8	812	-		Myeloproliferative disorder(178;0.0333)	241			Fibrinogen C-terminal.		Q5VYV5|Q92596	Missense_Mutation	SNP	ENST00000371806.3	37	c.721G>A	CCDS6985.1	.	.	.	.	.	.	.	.	.	.	C	4.098	0.016136	0.07959	6.81E-4	1.16E-4	ENSG00000085265	ENST00000371806	D	0.89552	-2.53	3.4	2.49	0.30216	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	.	.	.	.	D	0.86406	0.5925	M	0.68317	2.08	0.09310	N	1	P	0.44986	0.847	B	0.40329	0.326	T	0.77341	-0.2624	9	0.56958	D	0.05	.	8.7794	0.34783	0.0:0.8831:0.0:0.1169	.	241	O00602	FCN1_HUMAN	R	241	ENSP00000360871:G241R	ENSP00000360871:G241R	G	-	1	0	FCN1	136942812	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.034000	0.13776	0.774000	0.33427	-0.311000	0.09066	GGG		0.582	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	NM_002003		42	136	0	0	0	1	0	42	136				
AKAP6	9472	broad.mit.edu	37	14	33292870	33292870	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr14:33292870G>A	ENST00000280979.4	+	13	6021	c.5851G>A	c.(5851-5853)Gaa>Aaa	p.E1951K	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1951					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGCTGGCAAGGAATTTGTTTC	0.378																																					Melanoma(49;821 1200 7288 13647 42351)	ENST00000280979.4																			0				NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122						c.(5851-5853)Gaa>Aaa		A kinase (PRKA) anchor protein 6							64.0	66.0	65.0					14																	33292870		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33292870G>A	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5851G>A	14.37:g.33292870G>A	ENSP00000280979:p.Glu1951Lys					AKAP6_ENST00000557272.1_Intron	p.E1951K	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	6021	+	Breast(36;0.0388)|Prostate(35;0.15)		1951					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.5851G>A	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	5.773	0.327069	0.10900	.	.	ENSG00000151320	ENST00000280979	T	0.51574	0.7	5.96	4.12	0.48240	.	0.391101	0.27362	N	0.019715	T	0.46347	0.1388	M	0.62723	1.935	0.38765	D	0.954412	B	0.23490	0.086	B	0.18263	0.021	T	0.37572	-0.9700	10	0.39692	T	0.17	-2.2708	14.9179	0.70812	0.0607:0.1056:0.8337:0.0	.	1951	Q13023	AKAP6_HUMAN	K	1951	ENSP00000280979:E1951K	ENSP00000280979:E1951K	E	+	1	0	AKAP6	32362621	1.000000	0.71417	0.009000	0.14445	0.002000	0.02628	2.439000	0.44846	0.429000	0.26202	-2.151000	0.00333	GAA		0.378	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		15	73	0	0	0	1	0	15	73				
PAPLN	89932	broad.mit.edu	37	14	73719406	73719406	+	Silent	SNP	C	C	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr14:73719406C>T	ENST00000554301.1	+	10	1180	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	PAPLN_ENST00000555445.1_Silent_p.P339P|PAPLN_ENST00000427855.1_Silent_p.P339P|PAPLN_ENST00000340738.5_Silent_p.P312P|PAPLN_ENST00000381166.3_Silent_p.P339P			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	339	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGGCCTACCCCGACCACATGT	0.647																																						ENST00000427855.1																			0				NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42						c.(1015-1017)ccC>ccT		papilin, proteoglycan-like sulfated glycoprotein							75.0	75.0	75.0					14																	73719406		2203	4299	6502	SO:0001819	synonymous_variant	89932					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding	g.chr14:73719406C>T	BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.1017C>T	14.37:g.73719406C>T						PAPLN_ENST00000555445.1_Silent_p.P339P|PAPLN_ENST00000554301.1_Silent_p.P339P|PAPLN_ENST00000340738.5_Silent_p.P312P|PAPLN_ENST00000381166.3_Silent_p.P339P	p.P339P			O95428	PPN_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)	11	1119	+			339			TSP type-1 2.		B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Silent	SNP	ENST00000554301.1	37	c.1017C>T																																																																																					0.647	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000413182.1	NM_173462		12	50	0	0	0	1	0	12	50				
UGT2B4	7363	broad.mit.edu	37	4	70361505	70361505	+	Silent	SNP	C	C	T			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr4:70361505C>T	ENST00000305107.6	-	1	121	c.75G>A	c.(73-75)aaG>aaA	p.K25K	UGT2B4_ENST00000381096.3_Intron|UGT2B4_ENST00000512583.1_Silent_p.K25K|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	25					cellular glucuronidation (GO:0052695)|estrogen catabolic process (GO:0006711)|metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47					Canagliflozin(DB08907)|Codeine(DB00318)|Dapagliflozin(DB06292)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Morphine(DB00295)	ACACCAGCACCTTTCCACAAC	0.453																																						ENST00000305107.6																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						c.(73-75)aaG>aaA		UDP glucuronosyltransferase 2 family, polypeptide B4							152.0	153.0	153.0					4																	70361505		2203	4300	6503	SO:0001819	synonymous_variant	7363				estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70361505C>T	BC026264	CCDS43234.1, CCDS75137.1	4q13	2008-02-05	2005-07-20			ENSG00000156096		"""UDP glucuronosyltransferases"""	12553	protein-coding gene	gene with protein product		600067	"""UDP glycosyltransferase 2 family, polypeptide B4"""			3109396, 7835904	Standard	NM_021139		Approved	UGT2B11	uc003hek.4	P06133		ENST00000305107.6:c.75G>A	4.37:g.70361505C>T						UGT2B4_ENST00000512583.1_Silent_p.K25K|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron	p.K25K	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN			1	121	-			25					A6NCP7|B4DT75|G5E9X8|O60731|O60867|O75614|P36538|Q1HBF9|Q6QQX7	Silent	SNP	ENST00000305107.6	37	c.75G>A	CCDS43234.1																																																																																				0.453	UGT2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365526.1	NM_021139		7	231	0	0	0	1	0	7	231				
PTPRC	5788	broad.mit.edu	37	1	198711392	198711392	+	Missense_Mutation	SNP	G	G	A			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr1:198711392G>A	ENST00000367376.2	+	25	2758	c.2587G>A	c.(2587-2589)Gga>Aga	p.G863R	PTPRC_ENST00000348564.6_Missense_Mutation_p.G704R|PTPRC_ENST00000594404.1_Missense_Mutation_p.G702R|PTPRC_ENST00000442510.2_Missense_Mutation_p.G865R|PTPRC_ENST00000352140.3_Missense_Mutation_p.G815R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	863	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.		G -> R (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.G863R(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AACCTATATCGGAATTGATGC	0.463																																						ENST00000367376.2																			1	Substitution - Missense(1)	p.G863R(1)	breast(1)	breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(2587-2589)Gga>Aga		protein tyrosine phosphatase, receptor type, C							224.0	204.0	210.0					1																	198711392		2203	4300	6503	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198711392G>A	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2587G>A	1.37:g.198711392G>A	ENSP00000356346:p.Gly863Arg					PTPRC_ENST00000348564.6_Missense_Mutation_p.G704R|PTPRC_ENST00000594404.1_Missense_Mutation_p.G702R|PTPRC_ENST00000442510.2_Missense_Mutation_p.G865R|PTPRC_ENST00000352140.3_Missense_Mutation_p.G815R	p.G863R	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			25	2758	+			863		G -> R (in a breast cancer sample; somatic mutation).	Tyrosine-protein phosphatase 1.		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2587G>A		.	.	.	.	.	.	.	.	.	.	G	26.0	4.698373	0.88830	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.11604	2.76	6.06	6.06	0.98353	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.49305	D	0.000156	T	0.35098	0.0920	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.02070	-1.1219	10	0.56958	D	0.05	.	13.774	0.63041	0.0696:0.0:0.9304:0.0	.	704;815;863	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	R	865;815;863;702	ENSP00000193532:G815R	ENSP00000306782:G702R	G	+	1	0	PTPRC	196978015	1.000000	0.71417	0.939000	0.37840	0.767000	0.43475	6.715000	0.74697	2.879000	0.98667	0.650000	0.86243	GGA		0.463	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				18	85	0	0	0	1	0	18	85				
ZNF479	90827	broad.mit.edu	37	7	57187809	57187809	+	Missense_Mutation	SNP	T	T	G			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr7:57187809T>G	ENST00000331162.4	-	5	1583	c.1313A>C	c.(1312-1314)aAa>aCa	p.K438T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	438					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(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TTCTTCACATTTGTAGGGTCT	0.453																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(1312-1314)aAa>aCa		zinc finger protein 479							15.0	13.0	14.0					7																	57187809		1651	3694	5345	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57187809T>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.1313A>C	7.37:g.57187809T>G	ENSP00000333776:p.Lys438Thr						p.K438T	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	1583	-			438						Missense_Mutation	SNP	ENST00000331162.4	37	c.1313A>C	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	N	0.007	-1.944203	0.00479	.	.	ENSG00000185177	ENST00000331162	T	0.58060	0.36	0.955	-1.91	0.07641	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.32133	0.0819	N	0.20574	0.59	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.10497	-1.0627	9	0.59425	D	0.04	.	4.2411	0.10648	0.1773:0.0:0.4807:0.342	.	438	Q96JC4	ZN479_HUMAN	T	438	ENSP00000333776:K438T	ENSP00000333776:K438T	K	-	2	0	ZNF479	57191751	0.000000	0.05858	0.013000	0.15412	0.012000	0.07955	-1.673000	0.01951	-4.325000	0.00056	-4.471000	0.00005	AAA		0.453	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		3	70	0	0	0	1	0	3	70				
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs189899086|rs72269802		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr4:147560458_147560466delGGCGGCGGC	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)ggcggcggcdel	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	Poly-Gly.				axon extension (GO:0048675)|axon guidance (GO:0007411)|intracellular estrogen receptor signaling pathway (GO:0030520)|MAPK cascade (GO:0000165)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular process controlling balance (GO:0050885)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761																																						ENST00000281321.3																			0				NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33						c.(166-174)del		POU class 4 homeobox 2																																				SO:0001651	inframe_deletion	5458				estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	g.chr4:147560458_147560466delGGCGGCGGC	U06233	CCDS34074.1	4q31.22	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9219	protein-coding gene	gene with protein product		113725	"""POU domain, class 4, transcription factor 2"", ""POU domain class 4, transcription factor 2"""	BRN3B		8332509	Standard	NM_004575		Approved	Brn-3b	uc003ikv.3	Q12837		ENST00000281321.3:c.166_174delGGCGGCGGC	4.37:g.147560467_147560475delGGCGGCGGC	ENSP00000281321:p.Gly65_Gly67del					AC093887.1_ENST00000584185.1_RNA	p.GGG65del	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN			1	414_422	+	all_hematologic(180;0.151)		65			Poly-Gly.		B1PJR6|B2RC84|Q13883|Q14987	In_Frame_Del	DEL	ENST00000281321.3	37	c.166_174delGGCGGCGGC	CCDS34074.1																																																																																				0.761	POU4F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367020.1	NM_004575		6	8						6	8	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51882246	51882251	+	In_Frame_Del	DEL	TGCCCA	TGCCCA	-			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr6:51882246_51882251delTGCCCA	ENST00000371117.3	-	34	5832_5837	c.5557_5562delTGGGCA	c.(5557-5562)tgggcadel	p.WA1853del	PKHD1_ENST00000340994.4_In_Frame_Del_p.WA1853del	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1853					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.W1853L(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACATTGACTCTGCCCAATGATCTGGC	0.49																																						ENST00000371117.3																			2	Substitution - Missense(2)	p.W1853L(2)	lung(2)	NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(5557-5562)del		polycystic kidney and hepatic disease 1 (autosomal recessive)																																				SO:0001651	inframe_deletion	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51882246_51882251delTGCCCA	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5557_5562delTGGGCA	6.37:g.51882246_51882251delTGCCCA	ENSP00000360158:p.Trp1853_Ala1854del					PKHD1_ENST00000340994.4_In_Frame_Del_p.WA1853del	p.WA1853del	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			34	5832_5837	-	Lung NSC(77;0.0605)		1853					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	In_Frame_Del	DEL	ENST00000371117.3	37	c.5557_5562delTGGGCA	CCDS4935.1																																																																																				0.490	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		15	70						15	70	---	---	---	---
EXT1	2131	broad.mit.edu	37	8	118831983	118831983	+	Frame_Shift_Del	DEL	G	G	-			TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr8:118831983delG	ENST00000378204.2	-	6	2274	c.1468delC	c.(1468-1470)ctgfs	p.L490fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	490					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TGAGAGACCAGGGGGGTCACC	0.547			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																													ENST00000378204.2			yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	"""Mis, N, F, S"""	multiple exostoses type 1 gene			M		"""exostoses, osteosarcoma"""			0				breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	GRCh37	CD000259	EXT1	D		c.(1468-1470)tgfs		exostosin glycosyltransferase 1							79.0	86.0	84.0					8																	118831983		2203	4300	6503	SO:0001589	frameshift_variant	2131	Langer-Giedion syndrome;Hereditary Multiple Exostoses	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity	g.chr8:118831983delG	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1468delC	8.37:g.118831983delG	ENSP00000367446:p.Leu490fs						p.L490fs	NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	STAD - Stomach adenocarcinoma(47;0.012)		6	2274	-	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		490					B2R7V2|Q9BVI9	Frame_Shift_Del	DEL	ENST00000378204.2	37	c.1468delC	CCDS6324.1																																																																																				0.547	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132768.3	NM_000127		13	84						13	84	---	---	---	---
ITPR2	3709	broad.mit.edu	37	12	26714879	26714879	+	Frame_Shift_Del	DEL	T	T	-	rs369274314		TCGA-XJ-A83G-01A-11D-A34U-08	TCGA-XJ-A83G-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8130ce33-1338-4bc9-b812-7060168d762a	4c90ef8d-c640-4c67-bafa-12fb155781aa	g.chr12:26714879delT	ENST00000381340.3	-	35	5053	c.4637delA	c.(4636-4638)aatfs	p.N1546fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1546					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AATTCCACGATTTTTTGCTGA	0.318																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(4636-4638)atfs		inositol 1,4,5-trisphosphate receptor, type 2							41.0	39.0	40.0					12																	26714879		1815	4070	5885	SO:0001589	frameshift_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26714879delT	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4637delA	12.37:g.26714879delT	ENSP00000370744:p.Asn1546fs						p.N1546fs	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			35	5053	-	Colorectal(261;0.0847)		1546					O94773	Frame_Shift_Del	DEL	ENST00000381340.3	37	c.4637delA	CCDS41764.1																																																																																				0.318	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		7	26						7	26	---	---	---	---
