#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
SUCO	51430	broad.mit.edu	37	1	172558356	172558356	+	Silent	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:172558356T>C	ENST00000263688.3	+	18	2334	c.2115T>C	c.(2113-2115)agT>agC	p.S705S	SUCO_ENST00000610051.1_Intron|SUCO_ENST00000608151.1_Silent_p.S857S|SUCO_ENST00000367723.4_Silent_p.S856S	NM_014283.3	NP_055098.1	Q9UBS9	SUCO_HUMAN	SUN domain containing ossification factor	705					multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of bone remodeling (GO:0046850)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|rough endoplasmic reticulum (GO:0005791)											TAAGTAGTAGTATGCACCAGG	0.393																																						ENST00000367723.3																			0											c.(2569-2571)agT>agC		SUN domain containing ossification factor							103.0	100.0	101.0					1																	172558356		2203	4299	6502	SO:0001819	synonymous_variant	51430							g.chr1:172558356T>C	AF097535	CCDS1303.1, CCDS65726.1, CCDS65727.1, CCDS72984.1	1q24	2012-07-10	2012-07-10	2012-07-10	ENSG00000094975	ENSG00000094975			1240	protein-coding gene	gene with protein product	"""SUN-like protein 1"", ""osteopotentia"""		"""chromosome 1 open reading frame 9"""	C1orf9		10673381, 20440000	Standard	NM_001282750		Approved	CH1, SLP1, OPT	uc001giq.4	Q9UBS9	OTTHUMG00000034839	ENST00000263688.3:c.2115T>C	1.37:g.172558356T>C						SUCO_ENST00000263688.3_Silent_p.S705S	p.S857S	NM_016227.2	NP_057311.2					17	2695	+								B2RNU4|Q9BQB9|Q9BXQ2|Q9UL04	Silent	SNP	ENST00000263688.3	37	c.2571T>C	CCDS1303.1																																																																																				0.393	SUCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084273.1	NM_016227		4	166	0	0	0	1	0	4	166				
PCNXL2	80003	broad.mit.edu	37	1	233134030	233134030	+	Missense_Mutation	SNP	C	C	T	rs372629025		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:233134030C>T	ENST00000258229.9	-	32	5992	c.5758G>A	c.(5758-5760)Ggg>Agg	p.G1920R	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G572R	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1920						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GATGACACCCCGTGCTGAGCA	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18805	0.0		0.001	False		,,,				2504	0.0					ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(5758-5760)Ggg>Agg		pecanex-like 2 (Drosophila)		C	ARG/GLY	1,4077		0,1,2038	43.0	46.0	45.0		5758	-0.2	1.0	1		45	0,8390		0,0,4195	no	missense	PCNXL2	NM_014801.3	125	0,1,6233	TT,TC,CC		0.0,0.0245,0.0080	benign	1920/2138	233134030	1,12467	2039	4195	6234	SO:0001583	missense	80003					integral to membrane		g.chr1:233134030C>T	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5758G>A	1.37:g.233134030C>T	ENSP00000258229:p.Gly1920Arg					PCNXL2_ENST00000344698.2_Missense_Mutation_p.G572R	p.G1920R	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			32	5992	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1920					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.5758G>A	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	2.531	-0.308493	0.05458	2.45E-4	0.0	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.22134	1.97;3.15	5.08	-0.223	0.13118	.	0.969423	0.08551	N	0.928984	T	0.06371	0.0164	N	0.02011	-0.69	0.58432	D	0.999995	B;B	0.11235	0.002;0.004	B;B	0.06405	0.001;0.002	T	0.33420	-0.9869	10	0.35671	T	0.21	.	0.4324	0.00473	0.3014:0.2189:0.2885:0.1912	.	1920;572	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	R	572;1920	ENSP00000340759:G572R;ENSP00000258229:G1920R	ENSP00000258229:G1920R	G	-	1	0	PCNXL2	231200653	0.980000	0.34600	0.992000	0.48379	0.022000	0.10575	1.597000	0.36729	-0.020000	0.14032	-1.119000	0.02030	GGG		0.612	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		8	31	0	0	0	1	0	8	31				
GPRC5C	55890	broad.mit.edu	37	17	72436927	72436927	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr17:72436927G>A	ENST00000392627.1	+	2	2273	c.1147G>A	c.(1147-1149)Gtg>Atg	p.V383M	GPRC5C_ENST00000392629.2_Missense_Mutation_p.V350M|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Missense_Mutation_p.V23M	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	338					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						GAGCATGTTCGTGGAGAACAA	0.577																																						ENST00000392627.1																			0				central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						c.(1147-1149)Gtg>Atg		G protein-coupled receptor, family C, group 5, member C							90.0	89.0	89.0					17																	72436927		2203	4300	6503	SO:0001583	missense	55890					cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr17:72436927G>A	AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000392627.1:c.1147G>A	17.37:g.72436927G>A	ENSP00000376403:p.Val383Met					GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Missense_Mutation_p.V23M|GPRC5C_ENST00000392629.2_Missense_Mutation_p.V350M	p.V383M	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN			2	2273	+			338					B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	ENST00000392627.1	37	c.1147G>A	CCDS11699.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.910006	0.33721	.	.	ENSG00000170412	ENST00000392627;ENST00000342648;ENST00000262616;ENST00000392629;ENST00000392628	T	0.20598	2.06	5.42	5.42	0.78866	.	0.128176	0.52532	D	0.000077	T	0.26412	0.0645	L	0.39020	1.185	0.47621	D	0.999472	P;P;D	0.54964	0.948;0.948;0.969	B;B;P	0.48227	0.367;0.367;0.571	T	0.00797	-1.1562	10	0.49607	T	0.09	-27.3508	18.2129	0.89876	0.0:0.0:1.0:0.0	.	338;338;350	A8MXZ4;Q9NQ84;Q9NQ84-2	.;GPC5C_HUMAN;.	M	338;383;49;350;338	ENSP00000376405:V350M	ENSP00000262616:V49M	V	+	1	0	GPRC5C	69948522	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.769000	0.55303	2.549000	0.85964	0.561000	0.74099	GTG		0.577	GPRC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145094.2			4	57	0	0	0	1	0	4	57				
CTDSPL	10217	broad.mit.edu	37	3	38022299	38022299	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:38022299G>A	ENST00000273179.5	+	8	798	c.772G>A	c.(772-774)Gag>Aag	p.E258K	CTDSPL_ENST00000443503.2_Missense_Mutation_p.E247K|CTDSPL_ENST00000310189.3_3'UTR	NM_001008392.1	NP_001008393.1	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	258	FCP1 homology. {ECO:0000255|PROSITE- ProRule:PRU00336}.					extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		CCCCTTCTTTGAGGGCCTGAG	0.612																																						ENST00000443503.2																			0				breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8						c.(739-741)Gag>Aag		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like							149.0	104.0	120.0					3																	38022299		2203	4300	6503	SO:0001583	missense	10217					nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr3:38022299G>A	D88153	CCDS33734.1, CCDS33735.1	3p21.3	2010-06-21	2003-10-27	2003-10-29	ENSG00000144677	ENSG00000144677	3.1.3.16	"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	16890	protein-coding gene	gene with protein product	"""small CTD phosphatase 3"", ""HYA22 protein"", ""RB protein serine phosphatase from chromosome 3"""	608592	"""chromosome 3 open reading frame 8"""	C3orf8		9179494, 12543795	Standard	NM_005808		Approved	HYA22, SCP3, PSR1, RBSP3	uc003chg.3	O15194	OTTHUMG00000155942	ENST00000273179.5:c.772G>A	3.37:g.38022299G>A	ENSP00000273179:p.Glu258Lys					CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000273179.5_Missense_Mutation_p.E258K	p.E247K	NM_005808.2	NP_005799.2	O15194	CTDSL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)	7	979	+		Melanoma(1037;0.0122)	258			FCP1 homology.		Q3ZTU0|Q70KI4|Q7Z5Q2	Missense_Mutation	SNP	ENST00000273179.5	37	c.739G>A	CCDS33734.1	.	.	.	.	.	.	.	.	.	.	G	35	5.424094	0.96111	.	.	ENSG00000144677	ENST00000443503;ENST00000273179;ENST00000447745	T;T;T	0.16743	2.32;2.32;2.32	5.33	5.33	0.75918	NLI interacting factor (2);Dullard phosphatase domain, eukaryotic (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	L	0.59912	1.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.17289	-1.0374	10	0.87932	D	0	-8.1261	19.3952	0.94604	0.0:0.0:1.0:0.0	.	247;258	O15194-2;O15194	.;CTDSL_HUMAN	K	247;258;147	ENSP00000398288:E247K;ENSP00000273179:E258K;ENSP00000407443:E147K	ENSP00000273179:E258K	E	+	1	0	CTDSPL	37997303	1.000000	0.71417	0.992000	0.48379	0.999000	0.98932	9.808000	0.99193	2.664000	0.90586	0.655000	0.94253	GAG		0.612	CTDSPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342392.1	NM_005808		16	73	0	0	0	1	0	16	73				
OR11H12	440153	broad.mit.edu	37	14	19378016	19378016	+	Silent	SNP	C	C	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr14:19378016C>A	ENST00000550708.1	+	1	495	c.423C>A	c.(421-423)atC>atA	p.I141I		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	141						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACCTTGCTATCTGCCGTCCCT	0.453																																						ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(421-423)atC>atA		olfactory receptor, family 11, subfamily H, member 12							34.0	33.0	33.0					14																	19378016		2197	4274	6471	SO:0001819	synonymous_variant	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19378016C>A		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.423C>A	14.37:g.19378016C>A							p.I141I	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	495	+	all_cancers(95;0.00108)		141						Silent	SNP	ENST00000550708.1	37	c.423C>A	CCDS32017.1																																																																																				0.453	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		10	285	1	0	1.02788e-11	1	1.08835e-11	10	285				
IMP4	92856	broad.mit.edu	37	2	131100505	131100505	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:131100505G>A	ENST00000259239.3	+	0	708				CCDC115_ENST00000259229.2_5'Flank|CCDC115_ENST00000409127.1_5'Flank|CCDC115_ENST00000437688.2_5'Flank|IMP4_ENST00000409935.1_De_novo_Start_InFrame	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein						rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					CGGCACTCAAGATGGTAGGAG	0.637																																						ENST00000259239.3																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18								IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)							135.0	131.0	132.0					2																	131100505		2203	4300	6503			92856				rRNA processing|translation	nucleolus|ribonucleoprotein complex	aminoacyl-tRNA ligase activity|ATP binding|protein binding	g.chr2:131100505G>A	BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627		2.37:g.131100505G>A						IMP4_ENST00000409935.1_De_novo_Start_InFrame		NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN			0	708	+	Colorectal(110;0.1)							Q3ZTT3	Translation_Start_Site	SNP	ENST00000259239.3	37		CCDS2160.1																																																																																				0.637	IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416		39	132	0	0	0	1	0	39	132				
MC4R	4160	broad.mit.edu	37	18	58038902	58038902	+	Silent	SNP	A	A	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr18:58038902A>T	ENST00000299766.3	-	1	1099	c.681T>A	c.(679-681)gcT>gcA	p.A227A		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	227					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|diet induced thermogenesis (GO:0002024)|energy reserve metabolic process (GO:0006112)|feeding behavior (GO:0007631)|insulin secretion (GO:0030073)|negative regulation of feeding behavior (GO:2000252)|positive regulation of bone resorption (GO:0045780)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of grooming behavior (GO:2000821)|response to insulin (GO:0032868)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				CGGGGAGGACAGCAATCCTCT	0.532																																						ENST00000299766.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17						c.(679-681)gcT>gcA		melanocortin 4 receptor							74.0	68.0	70.0					18																	58038902		2203	4300	6503	SO:0001819	synonymous_variant	4160				feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding	g.chr18:58038902A>T	AY236539	CCDS11976.1	18q22	2012-08-10			ENSG00000166603	ENSG00000166603		"""GPCR / Class A : Melanocortin receptors"""	6932	protein-coding gene	gene with protein product		155541				7949735, 9763669	Standard	NM_005912		Approved		uc002lie.1	P32245	OTTHUMG00000132766	ENST00000299766.3:c.681T>A	18.37:g.58038902A>T							p.A227A	NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN			1	1099	-		Colorectal(73;0.0946)	227					B2RAC3|Q16317|Q3MIJ6	Silent	SNP	ENST00000299766.3	37	c.681T>A	CCDS11976.1																																																																																				0.532	MC4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256139.1	NM_005912		5	70	0	0	0	1	0	5	70				
FOXJ1	2302	broad.mit.edu	37	17	74136183	74136183	+	Silent	SNP	C	C	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr17:74136183C>G	ENST00000322957.6	-	2	648	c.294G>C	c.(292-294)cgG>cgC	p.R98R	RNF157-AS1_ENST00000585542.1_RNA|RNF157-AS1_ENST00000590137.1_RNA|RNF157-AS1_ENST00000586627.1_RNA|RNF157_ENST00000589912.1_5'Flank	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	98					actin cytoskeleton organization (GO:0030036)|activation of Rho GTPase activity (GO:0032862)|brain development (GO:0007420)|central tolerance induction (GO:0002508)|cilium assembly (GO:0042384)|epithelium development (GO:0060429)|establishment of apical/basal cell polarity (GO:0035089)|glomerular parietal epithelial cell development (GO:0072016)|humoral immune response (GO:0006959)|left/right pattern formation (GO:0060972)|leukocyte migration (GO:0050900)|lung epithelium development (GO:0060428)|metanephric part of ureteric bud development (GO:0035502)|negative regulation of B cell activation (GO:0050869)|negative regulation of germinal center formation (GO:0002635)|negative regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002924)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pattern specification process (GO:0007389)|positive regulation of central B cell tolerance induction (GO:0002897)|positive regulation of lung ciliated cell differentiation (GO:1901248)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGGCGCGCTCCGCGACGTGC	0.736																																						ENST00000322957.6																			0				large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4						c.(292-294)cgG>cgC		forkhead box J1							24.0	21.0	22.0					17																	74136183		2193	4284	6477	SO:0001819	synonymous_variant	2302				actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:74136183C>G	X99349	CCDS32739.1	17q25.1	2008-05-14				ENSG00000129654		"""Forkhead boxes"""	3816	protein-coding gene	gene with protein product		602291		FKHL13		9073514, 16518568	Standard	NM_001454		Approved	HFH-4, HFH4	uc002jqx.3	Q92949		ENST00000322957.6:c.294G>C	17.37:g.74136183C>G							p.R98R	NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		2	648	-			98					O00630	Silent	SNP	ENST00000322957.6	37	c.294G>C	CCDS32739.1																																																																																				0.736	FOXJ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449856.1	NM_001454		9	18	0	0	0	1	0	9	18				
KMT2D	8085	broad.mit.edu	37	12	49428219	49428219	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:49428219G>A	ENST00000301067.7	-	37	10480	c.10481C>T	c.(10480-10482)cCg>cTg	p.P3494L	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3494	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										AAAAGTGGGCGGGTTGGGACG	0.582																																						ENST00000301067.7																			0											c.(10480-10482)cCg>cTg		lysine (K)-specific methyltransferase 2D							44.0	47.0	46.0					12																	49428219		1954	4153	6107	SO:0001583	missense	8085							g.chr12:49428219G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10481C>T	12.37:g.49428219G>A	ENSP00000301067:p.Pro3494Leu						p.P3494L	NM_003482.3	NP_003473.3					37	10480	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.10481C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.322881	0.60634	.	.	ENSG00000167548	ENST00000301067	D	0.98437	-4.93	5.51	5.51	0.81932	.	0.000000	0.38005	N	0.001841	D	0.98516	0.9505	L	0.52573	1.65	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99866	1.1089	10	0.87932	D	0	.	18.5761	0.91155	0.0:0.0:1.0:0.0	.	3494	O14686	MLL2_HUMAN	L	3494	ENSP00000301067:P3494L	ENSP00000301067:P3494L	P	-	2	0	MLL2	47714486	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.237000	0.95368	2.779000	0.95612	0.655000	0.94253	CCG		0.582	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			11	32	0	0	0	1	0	11	32				
CYBB	1536	broad.mit.edu	37	X	37641386	37641386	+	Missense_Mutation	SNP	C	C	T	rs387906486		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chrX:37641386C>T	ENST00000378588.4	+	2	158	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	CYBB_ENST00000536160.1_5'UTR|CYBB_ENST00000545017.1_Intron|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	31					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|hydrogen peroxide biosynthetic process (GO:0050665)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|oxidation-reduction process (GO:0055114)|phagosome maturation (GO:0090382)|respiratory burst (GO:0045730)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|neuronal cell body (GO:0043025)|phagocytic vesicle membrane (GO:0030670)|rough endoplasmic reticulum (GO:0005791)	flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32					Dextromethorphan(DB00514)	CTGGTATTACCGGGTTTATGA	0.403																																						ENST00000378588.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						c.(91-93)Cgg>Tgg		cytochrome b-245, beta polypeptide							195.0	158.0	171.0					X																	37641386		2202	4300	6502	SO:0001583	missense	1536				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity	g.chrX:37641386C>T	X04011	CCDS14242.1	Xp21.1	2014-09-17	2008-07-29		ENSG00000165168	ENSG00000165168		"""Cytochrome b genes"""	2578	protein-coding gene	gene with protein product		300481	"""chronic granulomatous disease"""	CGD			Standard	NM_000397		Approved	GP91-PHOX, NOX2	uc004ddr.2	P04839	OTTHUMG00000033175	ENST00000378588.4:c.91C>T	X.37:g.37641386C>T	ENSP00000367851:p.Arg31Trp					CYBB_ENST00000536160.1_5'UTR|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Intron	p.R31W	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN			2	158	+			31					A8K138|Q2PP16	Missense_Mutation	SNP	ENST00000378588.4	37	c.91C>T	CCDS14242.1	.	.	.	.	.	.	.	.	.	.	C	6.366	0.435620	0.12104	.	.	ENSG00000165168	ENST00000378588	D	0.94687	-3.49	5.95	-6.37	0.01963	.	0.646670	0.16494	N	0.211950	T	0.82125	0.4969	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.55768	-0.8089	10	0.49607	T	0.09	.	0.3946	0.00416	0.3056:0.2765:0.1621:0.2558	.	31	P04839	CY24B_HUMAN	W	31	ENSP00000367851:R31W	ENSP00000367851:R31W	R	+	1	2	CYBB	37526330	0.000000	0.05858	0.000000	0.03702	0.122000	0.20287	-1.572000	0.02136	-2.300000	0.00658	0.600000	0.82982	CGG		0.403	CYBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080881.1			43	40	0	0	0	1	0	43	40				
MPZ	4359	broad.mit.edu	37	1	161276600	161276600	+	Missense_Mutation	SNP	T	T	C	rs267607242		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:161276600T>C	ENST00000533357.1	-	3	412	c.346A>G	c.(346-348)Aac>Gac	p.N116D	MPZ_ENST00000360451.6_Missense_Mutation_p.N126D|MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000336559.4_Missense_Mutation_p.N116D	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	116	Ig-like V-type.		N -> H (in DSS; associated on the same allele as Thr-114 and Asn-128 in one patient). {ECO:0000269|PubMed:9222756}.		cell death (GO:0008219)|cell-cell junction maintenance (GO:0045217)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			TAGTCTAGGTTGTGTATGACA	0.517																																						ENST00000533357.1																			0				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	GRCh37	CM016070	MPZ	M		c.(346-348)Aac>Gac		myelin protein zero							244.0	196.0	212.0					1																	161276600		2203	4300	6503	SO:0001583	missense	4359				synaptic transmission	integral to plasma membrane	structural molecule activity	g.chr1:161276600T>C	BC006491	CCDS1229.1, CCDS1229.2	1q22	2014-09-17	2008-08-01		ENSG00000158887	ENSG00000158887		"""Immunoglobulin superfamily / V-set domain containing"""	7225	protein-coding gene	gene with protein product		159440	"""Charcot-Marie-Tooth neuropathy 1B"""	CMT1, CMT1B		7693129	Standard	NM_000530		Approved	HMSNIB	uc001gaf.4	P25189	OTTHUMG00000034341	ENST00000533357.1:c.346A>G	1.37:g.161276600T>C	ENSP00000432943:p.Asn116Asp					MPZ_ENST00000336559.4_Missense_Mutation_p.N116D|MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000491222.2_5'UTR|MPZ_ENST00000360451.6_Missense_Mutation_p.N126D	p.N116D	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		3	412	-	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	116		N -> H (in DSS; associated on the same allele as Thr-114 and Asn-128 in one patient).	Ig-like V-type.		Q16072|Q5VTH4|Q92677|Q9BR67	Missense_Mutation	SNP	ENST00000533357.1	37	c.346A>G	CCDS1229.2	.	.	.	.	.	.	.	.	.	.	T	20.6	4.017521	0.75161	.	.	ENSG00000158887	ENST00000533357;ENST00000360451;ENST00000336559	D;D;D	0.95171	-3.63;-3.63;-3.63	4.76	4.76	0.60689	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.90421	0.7001	L	0.57536	1.79	0.36838	D	0.887268	B	0.31859	0.343	B	0.37731	0.257	D	0.90101	0.4184	9	0.41790	T	0.15	-28.758	12.2779	0.54747	0.0:0.0:0.0:1.0	.	116	P25189	MYP0_HUMAN	D	116;126;116	ENSP00000432943:N116D;ENSP00000353634:N126D;ENSP00000337777:N116D	ENSP00000337777:N116D	N	-	1	0	MPZ	159543224	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.457000	0.60088	1.992000	0.58205	0.496000	0.49642	AAC		0.517	MPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082987.2	NM_000530		26	105	0	0	0	1	0	26	105				
OR4L1	122742	broad.mit.edu	37	14	20528635	20528635	+	Silent	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr14:20528635T>C	ENST00000315683.1	+	1	432	c.432T>C	c.(430-432)ttT>ttC	p.F144F		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TAAAGGGGTTTGCGATACTTT	0.393																																						ENST00000315683.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(430-432)ttT>ttC		olfactory receptor, family 4, subfamily L, member 1							135.0	127.0	130.0					14																	20528635		2203	4300	6503	SO:0001819	synonymous_variant	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528635T>C		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.432T>C	14.37:g.20528635T>C							p.F144F	NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	432	+	all_cancers(95;0.00108)		144					Q6IEZ5	Silent	SNP	ENST00000315683.1	37	c.432T>C	CCDS32029.1																																																																																				0.393	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			60	113	0	0	0	1	0	60	113				
IRF4	3662	broad.mit.edu	37	6	407527	407527	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:407527G>A	ENST00000380956.4	+	9	1411	c.1285G>A	c.(1285-1287)Gat>Aat	p.D429N		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	429					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GAGGGGCTACGATTTACCAGA	0.363			T	IGH@	MM																																	ENST00000380956.4				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM		0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5						c.(1285-1287)Gat>Aat		interferon regulatory factor 4							100.0	100.0	100.0					6																	407527		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:407527G>A	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.1285G>A	6.37:g.407527G>A	ENSP00000370343:p.Asp429Asn						p.D429N	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	9	1411	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	429					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.1285G>A	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	G	17.12	3.307268	0.60305	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.94613	-3.47	5.51	5.51	0.81932	SMAD domain-like (1);SMAD/FHA domain (1);	0.374199	0.29444	N	0.012140	D	0.86514	0.5951	L	0.27053	0.805	0.50632	D	0.999889	P;P	0.51147	0.942;0.727	B;B	0.38458	0.274;0.091	D	0.86626	0.1882	10	0.28530	T	0.3	-19.517	19.4315	0.94772	0.0:0.0:1.0:0.0	.	428;429	Q15306-2;Q15306	.;IRF4_HUMAN	N	429;458	ENSP00000370343:D429N	ENSP00000370343:D429N	D	+	1	0	IRF4	352527	1.000000	0.71417	0.372000	0.25991	0.431000	0.31685	8.841000	0.92131	2.600000	0.87896	0.655000	0.94253	GAT		0.363	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			91	48	0	0	0	1	0	91	48				
WDR59	79726	broad.mit.edu	37	16	74908337	74908337	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr16:74908337C>T	ENST00000262144.6	-	26	2825	c.2695G>A	c.(2695-2697)Ggc>Agc	p.G899S		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	899										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CAGTACACGCCGAACTCTGGA	0.562																																						ENST00000262144.6																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						c.(2695-2697)Ggc>Agc		WD repeat domain 59							37.0	31.0	33.0					16																	74908337		2198	4300	6498	SO:0001583	missense	79726							g.chr16:74908337C>T	AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.2695G>A	16.37:g.74908337C>T	ENSP00000262144:p.Gly899Ser						p.G899S	NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN			26	2825	-			899					B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	ENST00000262144.6	37	c.2695G>A	CCDS32488.1	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843062	0.71488	.	.	ENSG00000103091	ENST00000262144	T	0.67523	-0.27	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.61502	0.2352	L	0.42245	1.32	0.80722	D	1	P;P	0.45902	0.792;0.868	B;B	0.41332	0.193;0.354	T	0.58194	-0.7679	10	0.19590	T	0.45	-24.9609	19.6001	0.95559	0.0:1.0:0.0:0.0	.	899;344	Q6PJI9;Q6PJI9-4	WDR59_HUMAN;.	S	899	ENSP00000262144:G899S	ENSP00000262144:G899S	G	-	1	0	WDR59	73465838	1.000000	0.71417	0.846000	0.33378	0.952000	0.60782	6.006000	0.70724	2.633000	0.89246	0.585000	0.79938	GGC		0.562	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410601.3	NM_030581		10	31	0	0	0	1	0	10	31				
PAPD7	11044	broad.mit.edu	37	5	6754886	6754886	+	Missense_Mutation	SNP	C	C	G	rs184218968		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr5:6754886C>G	ENST00000230859.6	+	13	1586	c.1457C>G	c.(1456-1458)tCc>tGc	p.S486C		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	716					double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ATGAAACTGTCCATGAAGGGC	0.612													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18165	0.0		0.0	False		,,,				2504	0.0				NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(1456-1458)tCc>tGc		PAP associated domain containing 7							41.0	36.0	38.0					5																	6754886		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6754886C>G	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.1457C>G	5.37:g.6754886C>G	ENSP00000230859:p.Ser486Cys						p.S486C	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			13	1586	+			486					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.1457C>G	CCDS3871.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	16.23	3.065038	0.55432	.	.	ENSG00000112941	ENST00000230859	T	0.34472	1.36	4.96	4.96	0.65561	.	0.387436	0.26761	N	0.022635	T	0.33118	0.0852	N	0.24115	0.695	0.33426	D	0.580493	B;B	0.28512	0.214;0.214	B;B	0.37091	0.241;0.241	T	0.50915	-0.8771	10	0.66056	D	0.02	-4.7069	16.3683	0.83344	0.0:1.0:0.0:0.0	.	485;486	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	C	486	ENSP00000230859:S486C	ENSP00000230859:S486C	S	+	2	0	PAPD7	6807886	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	4.223000	0.58587	2.458000	0.83093	0.655000	0.94253	TCC		0.612	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		4	30	0	0	0	1	0	4	30				
IKZF2	22807	broad.mit.edu	37	2	213914478	213914478	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:213914478C>T	ENST00000434687.1	-	6	842	c.533G>A	c.(532-534)aGa>aAa	p.R178K	IKZF2_ENST00000451136.2_Missense_Mutation_p.R152K|IKZF2_ENST00000374327.4_Intron|IKZF2_ENST00000374319.4_Missense_Mutation_p.R152K|IKZF2_ENST00000457361.1_Missense_Mutation_p.R178K|IKZF2_ENST00000421754.2_Missense_Mutation_p.R152K|IKZF2_ENST00000413091.3_Missense_Mutation_p.R178K|IKZF2_ENST00000342002.2_Missense_Mutation_p.R184K			Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	178					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		GTCCCTTCTTCTACAGGCGTA	0.453																																						ENST00000457361.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(532-534)aGa>aAa		IKAROS family zinc finger 2 (Helios)							101.0	89.0	93.0					2																	213914478		2203	4300	6503	SO:0001583	missense	22807				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:213914478C>T	AF130863	CCDS2395.1, CCDS46507.1	2q13.1	2013-01-08	2006-08-25	2006-08-25	ENSG00000030419	ENSG00000030419		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13177	protein-coding gene	gene with protein product		606234	"""zinc finger protein, subfamily 1A, 2 (Helios)"""	ZNFN1A2		9512513, 9560339	Standard	NM_001079526		Approved	Helios	uc002vem.3	Q9UKS7	OTTHUMG00000133005	ENST00000434687.1:c.533G>A	2.37:g.213914478C>T	ENSP00000412869:p.Arg178Lys					IKZF2_ENST00000374319.4_Missense_Mutation_p.R152K|IKZF2_ENST00000451136.2_Missense_Mutation_p.R152K|IKZF2_ENST00000413091.3_Missense_Mutation_p.R178K|IKZF2_ENST00000342002.2_Missense_Mutation_p.R184K|IKZF2_ENST00000434687.1_Missense_Mutation_p.R178K|IKZF2_ENST00000421754.2_Missense_Mutation_p.R152K|IKZF2_ENST00000374327.4_Intron	p.R178K	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)	5	701	-		Esophageal squamous(248;0.0559)|Renal(323;0.218)	178					Q53YJ5|Q6PQC5|Q6PQC6|Q6PQC7|Q6PQC8|Q6PQD0|Q6PQD1|Q8N6S1	Missense_Mutation	SNP	ENST00000434687.1	37	c.533G>A	CCDS2395.1	.	.	.	.	.	.	.	.	.	.	C	37	6.157834	0.97334	.	.	ENSG00000030419	ENST00000457361;ENST00000342002;ENST00000434687;ENST00000374319;ENST00000451136;ENST00000421754;ENST00000413091	T;T;T;T;T;T;T	0.60299	0.2;0.2;0.2;1.64;1.0;1.64;0.2	6.03	6.03	0.97812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000003	T	0.62829	0.2460	N	0.10874	0.06	0.58432	D	0.999999	D;D;D;D	0.64830	0.99;0.974;0.992;0.994	D;D;D;D	0.79108	0.979;0.969;0.92;0.992	T	0.68625	-0.5359	10	0.59425	D	0.04	-3.0413	20.5568	0.99304	0.0:1.0:0.0:0.0	.	152;152;152;178	C9JCG7;C9JTM9;Q9UKS7-2;Q9UKS7	.;.;.;IKZF2_HUMAN	K	178;184;178;152;152;152;178	ENSP00000410447:R178K;ENSP00000342876:R184K;ENSP00000412869:R178K;ENSP00000363439:R152K;ENSP00000395203:R152K;ENSP00000399574:R152K;ENSP00000402334:R178K	ENSP00000342876:R184K	R	-	2	0	IKZF2	213622723	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.757000	0.85209	2.861000	0.98227	0.655000	0.94253	AGA		0.453	IKZF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256593.3	NM_016260		27	32	0	0	0	1	0	27	32				
SCAF8	22828	broad.mit.edu	37	6	155123109	155123109	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:155123109A>G	ENST00000367178.3	+	7	1187	c.611A>G	c.(610-612)cAa>cGa	p.Q204R	SCAF8_ENST00000367186.4_Missense_Mutation_p.Q270R|SCAF8_ENST00000417268.1_Missense_Mutation_p.Q204R	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN	SR-related CTD-associated factor 8	204	Gln-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase core enzyme binding (GO:0043175)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						CTCCAGCTTCAACAATTAATA	0.383																																						ENST00000367178.3																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(15)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	46						c.(610-612)cAa>cGa		SR-related CTD-associated factor 8							59.0	66.0	64.0					6																	155123109		2203	4300	6503	SO:0001583	missense	22828				mRNA processing|RNA splicing	nuclear matrix|spliceosomal complex	nucleotide binding|RNA binding|RNA polymerase core enzyme binding	g.chr6:155123109A>G	AB029039	CCDS5247.1, CCDS69226.1, CCDS75541.1	6q25.1-q25.3	2013-02-12	2011-01-10	2011-01-10	ENSG00000213079	ENSG00000213079		"""RNA binding motif (RRM) containing"""	20959	protein-coding gene	gene with protein product			"""RNA binding motif protein 16"""	RBM16		10470851	Standard	NM_001286189		Approved	KIAA1116	uc003qpz.3	Q9UPN6	OTTHUMG00000015877	ENST00000367178.3:c.611A>G	6.37:g.155123109A>G	ENSP00000356146:p.Gln204Arg					SCAF8_ENST00000417268.1_Missense_Mutation_p.Q204R|SCAF8_ENST00000367186.4_Missense_Mutation_p.Q270R	p.Q204R	NM_014892.3	NP_055707.3	Q9UPN6	SCAF8_HUMAN			7	1187	+			204			Gln-rich.		B7Z888|Q5TBU6|Q6NSK3|Q9BQN8|Q9BX43	Missense_Mutation	SNP	ENST00000367178.3	37	c.611A>G	CCDS5247.1	.	.	.	.	.	.	.	.	.	.	A	17.84	3.488981	0.64074	.	.	ENSG00000213079	ENST00000367178;ENST00000417268;ENST00000367186	T;T;T	0.52754	0.68;0.68;0.65	5.94	5.94	0.96194	.	0.000000	0.64402	U	0.000001	T	0.58250	0.2109	M	0.65975	2.015	0.80722	D	1	D;D;D;D	0.63880	0.993;0.993;0.987;0.993	D;D;D;D	0.70227	0.968;0.968;0.953;0.968	T	0.56294	-0.8003	10	0.33940	T	0.23	.	16.4075	0.83691	1.0:0.0:0.0:0.0	.	249;270;282;204	B7Z876;B7Z888;B7Z3A4;Q9UPN6	.;.;.;SCAF8_HUMAN	R	204;204;270	ENSP00000356146:Q204R;ENSP00000413098:Q204R;ENSP00000356154:Q270R	ENSP00000356146:Q204R	Q	+	2	0	SCAF8	155164801	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	8.962000	0.93254	2.275000	0.75901	0.528000	0.53228	CAA		0.383	SCAF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042798.1	NM_014892		4	164	0	0	0	1	0	4	164				
CCDC141	285025	broad.mit.edu	37	2	179730506	179730506	+	Silent	SNP	G	G	A	rs142544322		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:179730506G>A	ENST00000420890.2	-	17	2829	c.2712C>T	c.(2710-2712)gaC>gaT	p.D904D	CCDC141_ENST00000295723.5_Silent_p.D329D	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	904										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATTTATCTCGTCTCTCATGG	0.522																																						ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(2710-2712)gaC>gaT		coiled-coil domain containing 141		G		0,4406		0,0,2203	360.0	323.0	336.0		2712	-12.1	0.0	2	dbSNP_134	336	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CCDC141	NM_173648.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		904/1531	179730506	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	285025						protein binding	g.chr2:179730506G>A	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2712C>T	2.37:g.179730506G>A						CCDC141_ENST00000295723.5_Silent_p.D329D	p.D904D	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		17	2829	-			329					H7C0P1|J3KNW6|Q8N8H3	Silent	SNP	ENST00000420890.2	37	c.2712C>T																																																																																					0.522	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		66	182	0	0	0	1	0	66	182				
DVL3	1857	broad.mit.edu	37	3	183882067	183882067	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:183882067G>A	ENST00000313143.3	+	3	492	c.244G>A	c.(244-246)Gag>Aag	p.E82K	DVL3_ENST00000462665.1_3'UTR|DVL3_ENST00000431765.1_Missense_Mutation_p.E82K|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	82	DIX. {ECO:0000255|PROSITE- ProRule:PRU00069}.				canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGTGTCAGCTGAGGGCTCACA	0.577																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(244-246)Gag>Aag		dishevelled segment polarity protein 3							83.0	85.0	84.0					3																	183882067		2203	4300	6503	SO:0001583	missense	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183882067G>A	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.244G>A	3.37:g.183882067G>A	ENSP00000316054:p.Glu82Lys					DVL3_ENST00000431765.1_Missense_Mutation_p.E82K|DVL3_ENST00000462665.1_3'UTR|EIF2B5_ENST00000444495.1_Intron	p.E82K	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		3	492	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		82			DIX.		B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Missense_Mutation	SNP	ENST00000313143.3	37	c.244G>A	CCDS3253.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.295765	0.81025	.	.	ENSG00000161202	ENST00000313143;ENST00000415612;ENST00000431765	T;T	0.05925	3.39;3.37	5.6	5.6	0.85130	DIX (2);	0.051301	0.85682	D	0.000000	T	0.13372	0.0324	M	0.82923	2.615	0.80722	D	1	P;P	0.40578	0.722;0.722	B;B	0.33846	0.171;0.171	T	0.02942	-1.1091	10	0.72032	D	0.01	-0.2212	19.6224	0.95663	0.0:0.0:1.0:0.0	.	82;82	B4E3E5;Q92997	.;DVL3_HUMAN	K	82	ENSP00000316054:E82K;ENSP00000405885:E82K	ENSP00000316054:E82K	E	+	1	0	DVL3	185364761	1.000000	0.71417	0.976000	0.42696	0.966000	0.64601	9.804000	0.99143	2.630000	0.89119	0.655000	0.94253	GAG		0.577	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		18	165	0	0	0	1	0	18	165				
TPPP	11076	broad.mit.edu	37	5	666136	666136	+	Silent	SNP	G	G	A	rs370221297		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr5:666136G>A	ENST00000360578.5	-	3	535	c.414C>T	c.(412-414)cgC>cgT	p.R138R	CEP72_ENST00000514507.1_3'UTR|AC026740.1_ENST00000594226.1_5'Flank	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	138					microtubule bundle formation (GO:0001578)|microtubule polymerization (GO:0046785)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein polymerization (GO:0032273)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TGTGCACCTCGCGAACGGCCT	0.657																																						ENST00000360578.5																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(412-414)cgC>cgT		tubulin polymerization promoting protein		G		1,4405	2.1+/-5.4	0,1,2202	96.0	86.0	90.0		414	-8.8	0.0	5		90	0,8600		0,0,4300	no	coding-synonymous	TPPP	NM_007030.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		138/220	666136	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	11076				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding	g.chr5:666136G>A	AB017016	CCDS3856.1	5p15.33	2008-02-05			ENSG00000171368	ENSG00000171368			24164	protein-coding gene	gene with protein product	"""brain specific protein p25 alpha"""	608773				10083737, 12093283, 15590652, 17105200	Standard	NM_007030		Approved	p25alpha, TPPP1, p25, TPPP/p25	uc003jbh.4	O94811	OTTHUMG00000131011	ENST00000360578.5:c.414C>T	5.37:g.666136G>A						CEP72_ENST00000514507.1_3'UTR	p.R138R	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)	3	535	-		Ovarian(839;0.0563)	138						Silent	SNP	ENST00000360578.5	37	c.414C>T	CCDS3856.1																																																																																				0.657	TPPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253645.3	NM_007030		33	50	0	0	0	1	0	33	50				
ABCA9	10350	broad.mit.edu	37	17	66978739	66978739	+	Nonsense_Mutation	SNP	G	G	A	rs375962547		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr17:66978739G>A	ENST00000340001.4	-	37	4895	c.4684C>T	c.(4684-4686)Cga>Tga	p.R1562*	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.R1524*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1562					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GATAAAGGTCGCACATCCTCA	0.453																																						ENST00000340001.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91						c.(4684-4686)Cga>Tga		ATP-binding cassette, sub-family A (ABC1), member 9		G	stop/ARG	0,4406		0,0,2203	139.0	131.0	134.0		4684	0.5	0.0	17		134	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	ABCA9	NM_080283.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		1562/1625	66978739	1,13005	2203	4300	6503	SO:0001587	stop_gained	10350				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:66978739G>A	AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.4684C>T	17.37:g.66978739G>A	ENSP00000342216:p.Arg1562*					ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.R1524*	p.R1562*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN			37	4895	-	Breast(10;1.47e-12)		1562					Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Nonsense_Mutation	SNP	ENST00000340001.4	37	c.4684C>T	CCDS11681.1	.	.	.	.	.	.	.	.	.	.	G	41	8.906672	0.98998	0.0	1.16E-4	ENSG00000154258	ENST00000340001;ENST00000453985	.	.	.	4.9	0.505	0.16953	.	2.135210	0.02474	N	0.087858	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.6993	0.02869	0.1612:0.1339:0.4042:0.3007	.	.	.	.	X	1562;1507	.	ENSP00000342216:R1562X	R	-	1	2	ABCA9	64490334	0.000000	0.05858	0.003000	0.11579	0.938000	0.57974	-0.385000	0.07379	0.177000	0.19895	-0.227000	0.12334	CGA		0.453	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277072.2	NM_172386		5	216	0	0	0	1	0	5	216				
RUFY2	55680	broad.mit.edu	37	10	70136632	70136632	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr10:70136632T>C	ENST00000602465.1	-	13	1403	c.1303A>G	c.(1303-1305)Atc>Gtc	p.I435V	RUFY2_ENST00000265865.3_Missense_Mutation_p.I25V|RUFY2_ENST00000388768.2_Missense_Mutation_p.I470V|RUFY2_ENST00000472394.2_5'Flank			Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	484						nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						TTTTGGGAGATTTGTTTCTGC	0.383																																						ENST00000388768.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						c.(1408-1410)Atc>Gtc		RUN and FYVE domain containing 2							186.0	168.0	174.0					10																	70136632		1840	4100	5940	SO:0001583	missense	55680					nucleus	metal ion binding	g.chr10:70136632T>C	AF461266	CCDS41534.1, CCDS44414.1, CCDS60544.1	10q22.2	2007-01-29			ENSG00000204130	ENSG00000204130		"""Zinc fingers, FYVE domain containing"""	19761	protein-coding gene	gene with protein product		610328				11877430	Standard	NM_001042417		Approved	RABIP4R, FLJ10063, KIAA1537, ZFYVE13	uc001job.3	Q8WXA3	OTTHUMG00000018353	ENST00000602465.1:c.1303A>G	10.37:g.70136632T>C	ENSP00000473462:p.Ile435Val					RUFY2_ENST00000265865.3_Missense_Mutation_p.I25V|RUFY2_ENST00000602465.1_Missense_Mutation_p.I435V	p.I470V	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN			13	1734	-			484					B3KXB2|B4DFR0|Q5TC48|Q8IW33|Q96P51|Q9P1Z1	Missense_Mutation	SNP	ENST00000602465.1	37	c.1408A>G		.	.	.	.	.	.	.	.	.	.	T	14.35	2.509680	0.44660	.	.	ENSG00000204130	ENST00000388768;ENST00000265865	T;T	0.70045	0.83;-0.45	5.24	5.24	0.73138	.	0.170209	0.49305	D	0.000147	T	0.43590	0.1254	N	0.10874	0.06	0.80722	D	1	B;B	0.27656	0.184;0.116	B;B	0.24701	0.055;0.024	T	0.40194	-0.9576	10	0.12430	T	0.62	.	11.4456	0.50120	0.1426:0.0:0.0:0.8574	.	470;484	Q8WXA3-3;Q8WXA3	.;RUFY2_HUMAN	V	470;25	ENSP00000373420:I470V;ENSP00000265865:I25V	ENSP00000265865:I25V	I	-	1	0	RUFY2	69806638	1.000000	0.71417	0.963000	0.40424	0.976000	0.68499	3.314000	0.51943	2.323000	0.78572	0.528000	0.53228	ATC		0.383	RUFY2-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467567.1	NM_017987		48	128	0	0	0	1	0	48	128				
DPY19L2P2	349152	broad.mit.edu	37	7	102912208	102912208	+	RNA	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr7:102912208C>T	ENST00000312132.4	-	0	2371							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										CGTTTTACTGCATTAATTACA	0.333																																						ENST00000312132.4																			0																																																			349152							g.chr7:102912208C>T	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102912208C>T														0	2371	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.333	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		4	96	0	0	0	1	0	4	96				
PTPRK	5796	broad.mit.edu	37	6	128326338	128326338	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:128326338C>T	ENST00000368215.3	-	15	2381	c.2382G>A	c.(2380-2382)atG>atA	p.M794I	PTPRK_ENST00000532331.1_Missense_Mutation_p.M795I|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Missense_Mutation_p.M805I|PTPRK_ENST00000368210.3_Missense_Mutation_p.M795I|PTPRK_ENST00000368226.4_Missense_Mutation_p.M795I|PTPRK_ENST00000368213.5_Missense_Mutation_p.M795I|PTPRK_ENST00000368227.3_Missense_Mutation_p.M795I			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	794					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CCATGTGAGTCATCTCCTGCC	0.458																																						ENST00000368227.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2383-2385)atG>atA		protein tyrosine phosphatase, receptor type, K							112.0	91.0	98.0					6																	128326338		2202	4299	6501	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128326338C>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2382G>A	6.37:g.128326338C>T	ENSP00000357198:p.Met794Ile					PTPRK_ENST00000368207.3_Missense_Mutation_p.M805I|PTPRK_ENST00000368226.4_Missense_Mutation_p.M795I|PTPRK_ENST00000368210.3_Missense_Mutation_p.M795I|PTPRK_ENST00000368213.5_Missense_Mutation_p.M795I|PTPRK_ENST00000532331.1_Missense_Mutation_p.M795I|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368215.3_Missense_Mutation_p.M794I	p.M795I			Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	15	2751	-			794					B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.2385G>A		.	.	.	.	.	.	.	.	.	.	C	26.0	4.698836	0.88830	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000415055;ENST00000427676	T;T;T;T;T;T;T;T	0.10668	3.12;3.11;3.07;3.12;3.11;3.12;3.04;2.85	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.20659	0.0497	M	0.62723	1.935	0.80722	D	1	P;P;P;D;P;P	0.60575	0.851;0.85;0.762;0.988;0.851;0.908	P;B;B;P;P;D	0.64144	0.838;0.247;0.429;0.77;0.838;0.922	T	0.00759	-1.1578	10	0.23891	T	0.37	.	20.2045	0.98273	0.0:1.0:0.0:0.0	.	805;795;795;676;794;795	B4DHC3;B7ZMG0;Q15262-3;F5GWP2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	I	795;795;795;795;795;794;805;38;676	ENSP00000357209:M795I;ENSP00000357210:M795I;ENSP00000432973:M795I;ENSP00000357196:M795I;ENSP00000357193:M795I;ENSP00000357198:M794I;ENSP00000357190:M805I;ENSP00000408180:M38I	ENSP00000357190:M805I	M	-	3	0	PTPRK	128368031	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.780000	0.95670	0.650000	0.86243	ATG		0.458	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1			18	55	0	0	0	1	0	18	55				
VEPH1	79674	broad.mit.edu	37	3	157031490	157031490	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:157031490C>A	ENST00000362010.2	-	11	2237	c.1930G>T	c.(1930-1932)Gct>Tct	p.A644S	RP11-550I24.2_ENST00000475102.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.A644S|VEPH1_ENST00000543418.1_Intron|RP11-550I24.2_ENST00000494885.1_RNA|VEPH1_ENST00000392833.2_Intron	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	644						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TCCCACAGAGCTCTGAGGAAT	0.478																																						ENST00000362010.2																			0				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1930-1932)Gct>Tct		ventricular zone expressed PH domain-containing 1							75.0	79.0	77.0					3																	157031490		2203	4300	6503	SO:0001583	missense	79674					plasma membrane		g.chr3:157031490C>A	AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.1930G>T	3.37:g.157031490C>A	ENSP00000354919:p.Ala644Ser					RP11-550I24.2_ENST00000494885.1_RNA|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392832.2_Missense_Mutation_p.A644S|VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron	p.A644S	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)		11	2237	-			644					D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	c.1930G>T	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.687887	0.00738	.	.	ENSG00000197415	ENST00000362010;ENST00000392832	T;T	0.07327	3.2;3.2	5.01	-0.573	0.11742	.	0.572775	0.17840	N	0.160248	T	0.03011	0.0089	N	0.12182	0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44742	-0.9308	10	0.07482	T	0.82	5.6756	3.9063	0.09183	0.2789:0.336:0.0:0.3851	.	644	Q14D04	MELT_HUMAN	S	644	ENSP00000354919:A644S;ENSP00000376577:A644S	ENSP00000354919:A644S	A	-	1	0	VEPH1	158514184	0.063000	0.20901	0.001000	0.08648	0.157000	0.22087	0.301000	0.19174	-0.043000	0.13513	0.484000	0.47621	GCT		0.478	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621		6	110	1	0	0.00116845	1	0.00117779	6	110				
LRIG3	121227	broad.mit.edu	37	12	59271321	59271321	+	Silent	SNP	C	C	T	rs369890620		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:59271321C>T	ENST00000320743.3	-	15	2683	c.2397G>A	c.(2395-2397)tcG>tcA	p.S799S	LRIG3_ENST00000379141.4_Silent_p.S739S	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	799					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATCGTCTAACGATGGGGCTG	0.562			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(2395-2397)tcG>tcA		leucine-rich repeats and immunoglobulin-like domains 3		C	,	0,4406		0,0,2203	168.0	106.0	127.0		2217,2397	-10.9	0.0	12		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LRIG3	NM_001136051.1,NM_153377.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	739/1060,799/1120	59271321	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59271321C>T	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2397G>A	12.37:g.59271321C>T						LRIG3_ENST00000379141.4_Silent_p.S739S	p.S799S	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		15	2683	-			799					Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.2397G>A	CCDS8960.1																																																																																				0.562	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		41	52	0	0	0	1	0	41	52				
CYP4F11	57834	broad.mit.edu	37	19	16034870	16034870	+	Missense_Mutation	SNP	C	C	T	rs373592797		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:16034870C>T	ENST00000402119.4	-	6	1096	c.670G>A	c.(670-672)Gcc>Acc	p.A224T	CYP4F11_ENST00000326742.8_Missense_Mutation_p.A224T|CYP4F11_ENST00000591841.1_5'UTR|CYP4F11_ENST00000248041.8_Missense_Mutation_p.A224T	NM_021187.3	NP_067010.3			cytochrome P450, family 4, subfamily F, polypeptide 11											NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TCCAAGATGGCGGCAATATAT	0.498																																						ENST00000326742.7																			0				NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						c.(670-672)Gcc>Acc		cytochrome P450, family 4, subfamily F, polypeptide 11		C	THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	91.0	88.0	89.0		670,670	1.5	0.6	19		89	0,8600		0,0,4300	no	missense,missense	CYP4F11	NM_001128932.1,NM_021187.3	58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	224/525,224/525	16034870	1,13005	2203	4300	6503	SO:0001583	missense	57834				inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr19:16034870C>T	AF236085	CCDS12337.1	19p13.1	2011-07-29	2003-01-14		ENSG00000171903	ENSG00000171903		"""Cytochrome P450s"""	13265	protein-coding gene	gene with protein product		611517	"""cytochrome P450, subfamily IVF, polypeptide 11"""			10964514, 9068972	Standard	NM_021187		Approved		uc002nbu.2	Q9HBI6		ENST00000402119.4:c.670G>A	19.37:g.16034870C>T	ENSP00000384588:p.Ala224Thr					CYP4F11_ENST00000402119.3_Missense_Mutation_p.A224T|CYP4F11_ENST00000248041.7_Missense_Mutation_p.A224T	p.A224T			Q9HBI6	CP4FB_HUMAN			6	671	-			224						Missense_Mutation	SNP	ENST00000402119.4	37	c.670G>A	CCDS12337.1	.	.	.	.	.	.	.	.	.	.	c	12.09	1.833507	0.32421	2.27E-4	0.0	ENSG00000171903	ENST00000402119;ENST00000248041;ENST00000326742	T;T;T	0.70869	-0.52;-0.52;-0.52	2.52	1.45	0.22620	.	0.000000	0.64402	U	0.000003	T	0.69052	0.3068	M	0.78456	2.415	0.49213	D	0.999767	B;B	0.25850	0.089;0.136	B;B	0.33750	0.169;0.125	T	0.64575	-0.6375	10	0.49607	T	0.09	.	7.3828	0.26866	0.0:0.8548:0.0:0.1452	.	224;224	F8W978;Q9HBI6	.;CP4FB_HUMAN	T	224	ENSP00000384588:A224T;ENSP00000248041:A224T;ENSP00000319859:A224T	ENSP00000248041:A224T	A	-	1	0	CYP4F11	15895870	0.813000	0.29090	0.587000	0.28692	0.063000	0.16089	1.453000	0.35167	0.372000	0.24591	-0.680000	0.03767	GCC		0.498	CYP4F11-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460385.2	NM_021187		4	150	0	0	0	1	0	4	150				
APLP1	333	broad.mit.edu	37	19	36362190	36362190	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:36362190T>C	ENST00000221891.4	+	4	668	c.476T>C	c.(475-477)tTg>tCg	p.L159S	APLP1_ENST00000537454.2_Missense_Mutation_p.L120S|APLP1_ENST00000586861.1_Missense_Mutation_p.L153S|NPHS1_ENST00000591817.1_5'Flank	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	159	Copper-binding. {ECO:0000250}.				adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCGGTTCTTGCACCAGGAG	0.622																																						ENST00000221891.4																			0				breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(475-477)tTg>tCg		amyloid beta (A4) precursor-like protein 1							85.0	69.0	75.0					19																	36362190		2203	4299	6502	SO:0001583	missense	333				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding	g.chr19:36362190T>C	U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.476T>C	19.37:g.36362190T>C	ENSP00000221891:p.Leu159Ser					APLP1_ENST00000586861.1_Missense_Mutation_p.L153S|APLP1_ENST00000537454.2_Missense_Mutation_p.L120S	p.L159S	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	668	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		159			Copper-binding (By similarity).		O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	c.476T>C	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	t	18.75	3.689637	0.68271	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.94184	-3.28;-3.37	4.76	3.67	0.42095	Amyloidogenic glycoprotein, extracellular (1);Amyloidogenic glycoprotein, copper-binding (3);	0.000000	0.35207	N	0.003372	D	0.93442	0.7908	L	0.45137	1.4	0.34824	D	0.739013	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.80764	0.978;0.953;0.992;0.994	D	0.92471	0.5985	10	0.20519	T	0.43	-1.0047	9.265	0.37636	0.0:0.0:0.1818:0.8182	.	153;120;159;159	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	S	120;159	ENSP00000441501:L120S;ENSP00000221891:L159S	ENSP00000221891:L159S	L	+	2	0	APLP1	41054030	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.126000	0.57937	1.783000	0.52377	0.392000	0.25879	TTG		0.622	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1	NM_001024807		9	26	0	0	0	1	0	9	26				
ZNF677	342926	broad.mit.edu	37	19	53740939	53740939	+	Nonsense_Mutation	SNP	G	G	T	rs143592638		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:53740939G>T	ENST00000598513.1	-	5	1191	c.1041C>A	c.(1039-1041)taC>taA	p.Y347*	ZNF677_ENST00000333952.4_Nonsense_Mutation_p.Y347*|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CATTACATTTGTAAGGTTTCT	0.378																																						ENST00000333952.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1039-1041)taC>taA		zinc finger protein 677							84.0	79.0	81.0					19																	53740939		2203	4300	6503	SO:0001587	stop_gained	342926				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53740939G>T	BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1041C>A	19.37:g.53740939G>T	ENSP00000469391:p.Tyr347*					ZNF677_ENST00000598513.1_Nonsense_Mutation_p.Y347*	p.Y347*			Q86XU0	ZN677_HUMAN		GBM - Glioblastoma multiforme(134;0.00352)	5	1206	-			347						Nonsense_Mutation	SNP	ENST00000598513.1	37	c.1041C>A	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.208228	0.39003	.	.	ENSG00000197928	ENST00000333952	.	.	.	2.21	-1.17	0.09648	.	0.000000	0.30920	N	0.008615	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.1264	0.10129	0.2598:0.1966:0.5436:0.0	.	.	.	.	X	347	.	ENSP00000334394:Y347X	Y	-	3	2	ZNF677	58432751	0.000000	0.05858	0.039000	0.18376	0.017000	0.09413	0.082000	0.14847	-0.198000	0.10333	-0.819000	0.03115	TAC		0.378	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609		23	83	1	0	7.41877e-09	1	7.72533e-09	23	83				
KALRN	8997	broad.mit.edu	37	3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|AC080008.1_ENST00000584173.1_RNA|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2660					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(7981-7983)Cga>Tga		kalirin, RhoGEF kinase							132.0	121.0	125.0					3																	124418865		2203	4300	6503	SO:0001587	stop_gained	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124418865C>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.2890C>T	3.37:g.124418865C>T	ENSP00000291478:p.Arg964*					KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000291478.4_Nonsense_Mutation_p.R964*	p.R2661*	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			56	8108	+			2660					A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Nonsense_Mutation	SNP	ENST00000291478.5	37	c.7981C>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	C	42	9.571042	0.99208	.	.	ENSG00000160145	ENST00000360013;ENST00000291478;ENST00000428018	.	.	.	6.17	3.15	0.36227	.	0.209202	0.31347	N	0.007809	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	14.1047	0.65080	0.6612:0.3388:0.0:0.0	.	.	.	.	X	2661;964;932	.	ENSP00000291478:R964X	R	+	1	2	KALRN	125901555	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	1.467000	0.35321	0.920000	0.36970	-0.152000	0.13540	CGA		0.597	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		4	179	0	0	0	1	0	4	179				
ARID3B	10620	broad.mit.edu	37	15	74883672	74883672	+	Silent	SNP	T	T	C	rs199931788		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr15:74883672T>C	ENST00000346246.5	+	6	1293	c.1062T>C	c.(1060-1062)ctT>ctC	p.L354L		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	354	Interaction with RB1.					nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.L354L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CCCCTGCCCTTCTCTCCCCAC	0.647																																						ENST00000346246.5																			1	Substitution - coding silent(1)	p.L354L(1)	lung(1)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1060-1062)ctT>ctC		AT rich interactive domain 3B (BRIGHT-like)							48.0	57.0	54.0					15																	74883672		2197	4295	6492	SO:0001819	synonymous_variant	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74883672T>C		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1062T>C	15.37:g.74883672T>C							p.L354L	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			6	1293	+			354			Interaction with RB1.		O95443|Q59HC9|Q6P9C9	Silent	SNP	ENST00000346246.5	37	c.1062T>C	CCDS10264.1																																																																																				0.647	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		4	125	0	0	0	1	0	4	125				
DNM1	1759	broad.mit.edu	37	9	131010933	131010933	+	Silent	SNP	G	G	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr9:131010933G>C	ENST00000372923.3	+	19	2069	c.1977G>C	c.(1975-1977)gtG>gtC	p.V659V	DNM1_ENST00000341179.7_Silent_p.V659V|DNM1_ENST00000475805.1_Silent_p.V659V|DNM1_ENST00000486160.1_Silent_p.V659V|DNM1_ENST00000393594.3_Silent_p.V659V	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	659	GED. {ECO:0000255|PROSITE- ProRule:PRU00720}.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						AACGGCAAGTGGAGACCATCC	0.537																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(1975-1977)gtG>gtC		dynamin 1							184.0	148.0	160.0					9																	131010933		2203	4300	6503	SO:0001819	synonymous_variant	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:131010933G>C	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.1977G>C	9.37:g.131010933G>C						DNM1_ENST00000486160.1_Silent_p.V659V|DNM1_ENST00000393594.3_Silent_p.V659V|DNM1_ENST00000372923.3_Silent_p.V659V|DNM1_ENST00000475805.1_Silent_p.V659V	p.V659V	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			19	2069	+			659			GED.		A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Silent	SNP	ENST00000372923.3	37	c.1977G>C	CCDS6895.1																																																																																				0.537	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		24	258	0	0	0	1	0	24	258				
SOS2	6655	broad.mit.edu	37	14	50612018	50612018	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr14:50612018C>T	ENST00000216373.5	-	16	2811	c.2537G>A	c.(2536-2538)cGg>cAg	p.R846Q	SOS2_ENST00000543680.1_Missense_Mutation_p.R813Q	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	846	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TACTGCCACCCGTTCTTCAAA	0.328																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(2536-2538)cGg>cAg		son of sevenless homolog 2 (Drosophila)							64.0	68.0	66.0					14																	50612018		2202	4298	6500	SO:0001583	missense	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50612018C>T	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2537G>A	14.37:g.50612018C>T	ENSP00000216373:p.Arg846Gln					SOS2_ENST00000543680.1_Missense_Mutation_p.R813Q	p.R846Q	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			16	2811	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		846			Ras-GEF.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	ENST00000216373.5	37	c.2537G>A	CCDS9697.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006621	0.93287	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.70631	-0.5;-0.5	5.64	5.64	0.86602	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	D	0.89924	0.6856	H	0.96365	3.81	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92619	0.6106	10	0.87932	D	0	.	19.6986	0.96043	0.0:1.0:0.0:0.0	.	813;846	B7ZKT6;Q07890	.;SOS2_HUMAN	Q	846;813	ENSP00000216373:R846Q;ENSP00000445328:R813Q	ENSP00000216373:R846Q	R	-	2	0	SOS2	49681768	1.000000	0.71417	0.983000	0.44433	0.669000	0.39330	7.764000	0.85297	2.645000	0.89757	0.591000	0.81541	CGG		0.328	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			4	104	0	0	0	1	0	4	104				
CYLC2	1539	broad.mit.edu	37	9	105757679	105757679	+	Splice_Site	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr9:105757679T>C	ENST00000374798.3	+	1	87	c.17T>C	c.(16-18)tTc>tCc	p.F6S	CYLC2_ENST00000487798.1_Splice_Site_p.F6S	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	6					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CTCCCAAGATTGTAAGTCAAA	0.308																																						ENST00000374798.3																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41						c.e1+1		cylicin, basic protein of sperm head cytoskeleton 2							103.0	104.0	104.0					9																	105757679		2203	4299	6502	SO:0001630	splice_region_variant	1539				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	g.chr9:105757679T>C	Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.17+1T>C	9.37:g.105757679T>C						CYLC2_ENST00000487798.1_Splice_Site_p.F6_splice	p.F6_splice	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN			1	87	+		all_hematologic(171;0.125)	6					B2R8F4|Q5VVJ9	Splice_Site	SNP	ENST00000374798.3	37	c.17_splice	CCDS35085.1	.	.	.	.	.	.	.	.	.	.	T	17.12	3.308638	0.60305	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.15718	2.4;2.4	4.18	4.18	0.49190	.	.	.	.	.	T	0.27629	0.0679	L	0.31294	0.92	0.34238	D	0.677256	D	0.89917	1.0	D	0.87578	0.998	T	0.32877	-0.9890	9	0.87932	D	0	11.4335	9.9117	0.41411	0.0:0.0:0.0:1.0	.	6	Q14093	CYLC2_HUMAN	S	6	ENSP00000420256:F6S;ENSP00000417674:F6S	ENSP00000420256:F6S	F	+	2	0	CYLC2	104797500	1.000000	0.71417	1.000000	0.80357	0.821000	0.46438	2.933000	0.48948	2.113000	0.64589	0.454000	0.30748	TTC		0.308	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	Missense_Mutation	115	145	0	0	0	1	0	115	145				
MMRN2	79812	broad.mit.edu	37	10	88717142	88717142	+	Missense_Mutation	SNP	C	C	T	rs200500870		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr10:88717142C>T	ENST00000372027.5	-	1	478	c.157G>A	c.(157-159)Gta>Ata	p.V53I	SNCG_ENST00000372017.3_5'Flank|SNCG_ENST00000348795.4_5'Flank	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN	multimerin 2	53					angiogenesis (GO:0001525)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TACCGTCCTACGGGGTCCTTG	0.617																																						ENST00000372027.4																			0				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						c.(157-159)Gta>Ata		multimerin 2							115.0	111.0	112.0					10																	88717142		2203	4300	6503	SO:0001583	missense	79812					extracellular space		g.chr10:88717142C>T	AK023527	CCDS7379.1	10q23.31	2004-03-10	2004-03-02	2004-03-02	ENSG00000173269	ENSG00000173269		"""EMI domain containing"""	19888	protein-coding gene	gene with protein product		608925	"""elastin microfibril interfacer 3"""	EMILIN3		11559704	Standard	NM_024756		Approved	EndoGlyx-1, FLJ13465	uc001kea.3	Q9H8L6	OTTHUMG00000018663	ENST00000372027.5:c.157G>A	10.37:g.88717142C>T	ENSP00000361097:p.Val53Ile						p.V53I	NM_024756.2	NP_079032.2	Q9H8L6	MMRN2_HUMAN			1	230	-			53					Q504V7|Q6P2N2	Missense_Mutation	SNP	ENST00000372027.5	37	c.157G>A	CCDS7379.1	.	.	.	.	.	.	.	.	.	.	C	8.920	0.960933	0.18583	.	.	ENSG00000173269	ENST00000372027;ENST00000443699	T	0.13901	2.55	3.71	-4.7	0.03288	.	2.378560	0.01677	N	0.025931	T	0.06826	0.0174	N	0.12182	0.205	0.09310	N	1	B	0.15930	0.015	B	0.06405	0.002	T	0.27839	-1.0062	10	0.19147	T	0.46	2.392	5.5082	0.16866	0.0:0.2169:0.231:0.5522	.	53	Q9H8L6	MMRN2_HUMAN	I	53	ENSP00000361097:V53I	ENSP00000361097:V53I	V	-	1	0	MMRN2	88707122	0.000000	0.05858	0.000000	0.03702	0.120000	0.20174	-2.988000	0.00659	-0.987000	0.03494	0.462000	0.41574	GTA		0.617	MMRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049179.2	NM_024756		11	80	0	0	0	1	0	11	80				
PCDH9	5101	broad.mit.edu	37	13	66878987	66878987	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr13:66878987T>C	ENST00000377865.2	-	4	3648	c.3514A>G	c.(3514-3516)Aag>Gag	p.K1172E	PCDH9_ENST00000544246.1_Missense_Mutation_p.K1172E|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000456367.1_Missense_Mutation_p.K1138E|PCDH9_ENST00000328454.5_Missense_Mutation_p.K1138E			Q9HC56	PCDH9_HUMAN	protocadherin 9	1172					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTCACAAGCTTGTCCTTCTTC	0.498																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(3514-3516)Aag>Gag		protocadherin 9							190.0	151.0	164.0					13																	66878987		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:66878987T>C	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3514A>G	13.37:g.66878987T>C	ENSP00000367096:p.Lys1172Glu					PCDH9_ENST00000328454.5_Missense_Mutation_p.K1138E|PCDH9_ENST00000377865.2_Missense_Mutation_p.K1172E|PCDH9_ENST00000456367.1_Missense_Mutation_p.K1138E|PCDH9-AS1_ENST00000430861.1_RNA	p.K1172E	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	5	4205	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1172					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.3514A>G	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	17.49	3.401922	0.62288	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.57752	0.43;0.43;0.38;0.38	6.05	6.05	0.98169	.	0.000000	0.49916	D	0.000137	T	0.45558	0.1348	L	0.29908	0.895	0.38375	D	0.944984	B;B;B	0.15473	0.013;0.006;0.013	B;B;B	0.20767	0.023;0.031;0.023	T	0.43327	-0.9398	10	0.59425	D	0.04	.	16.5932	0.84781	0.0:0.0:0.0:1.0	.	1130;1138;1172	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	E	1172;1172;1138;1138	ENSP00000442186:K1172E;ENSP00000367096:K1172E;ENSP00000401699:K1138E;ENSP00000332060:K1138E	ENSP00000332060:K1138E	K	-	1	0	PCDH9	65776988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.955000	0.70306	2.320000	0.78422	0.528000	0.53228	AAG		0.498	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		24	97	0	0	0	1	0	24	97				
TAS2R19	259294	broad.mit.edu	37	12	11175081	11175081	+	Silent	SNP	T	T	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:11175081T>A	ENST00000390673.2	-	1	138	c.90A>T	c.(88-90)gtA>gtT	p.V30V	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	30					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAATGACATTTACTAGGGCTA	0.408																																						ENST00000390673.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						c.(88-90)gtA>gtT		taste receptor, type 2, member 19							85.0	80.0	82.0					12																	11175081		2203	4300	6503	SO:0001819	synonymous_variant	259294				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr12:11175081T>A	AX097730, AF494234	CCDS8640.1	12p13.2	2012-08-22			ENSG00000212124	ENSG00000212124		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19108	protein-coding gene	gene with protein product		613961	"""taste receptor, type 2, member 48"", ""taste receptor, type 2, member 23"""	TAS2R48, TAS2R23			Standard	NM_176888		Approved	T2R19, T2R23	uc010shj.2	P59542	OTTHUMG00000162687	ENST00000390673.2:c.90A>T	12.37:g.11175081T>A						TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.V30V	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN			1	138	-			30					Q3MIJ4|Q645X8	Silent	SNP	ENST00000390673.2	37	c.90A>T	CCDS8640.1																																																																																				0.408	TAS2R19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370080.1	NM_176888		4	116	0	0	0	1	0	4	116				
ZNF229	7772	broad.mit.edu	37	19	44933309	44933309	+	Silent	SNP	G	G	A	rs376063242		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:44933309G>A	ENST00000588931.1	-	6	2080	c.1647C>T	c.(1645-1647)tgC>tgT	p.C549C	ZNF229_ENST00000291187.4_Silent_p.C543C|CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	549					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGCTCTTCCCGCACTCGCATT	0.522																																						ENST00000291187.4																			0				breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45						c.(1627-1629)tgC>tgT		zinc finger protein 229		G		0,4362		0,0,2181	77.0	84.0	82.0		1647	-3.8	0.4	19		82	1,8589		0,1,4294	no	coding-synonymous	ZNF229	NM_014518.2		0,1,6475	AA,AG,GG		0.0116,0.0,0.0077		549/826	44933309	1,12951	2181	4295	6476	SO:0001819	synonymous_variant	7772				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44933309G>A	AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1647C>T	19.37:g.44933309G>A						CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Silent_p.C549C	p.C543C	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN			6	1951	-		Prostate(69;0.0352)	549					B2RWN3|Q59FV2|Q86WL9	Silent	SNP	ENST00000588931.1	37	c.1629C>T	CCDS42574.1																																																																																				0.522	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460833.1	NM_014518		74	96	0	0	0	1	0	74	96				
BCAN	63827	broad.mit.edu	37	1	156626137	156626137	+	Missense_Mutation	SNP	G	G	T	rs138466651		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:156626137G>T	ENST00000329117.5	+	9	2342	c.2006G>T	c.(2005-2007)cGc>cTc	p.R669L	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	669	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAAGGGGTCCGCTGCCTATGT	0.637																																						ENST00000329117.4																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(2005-2007)cGc>cTc		brevican							90.0	82.0	85.0					1																	156626137		2203	4300	6503	SO:0001583	missense	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156626137G>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.2006G>T	1.37:g.156626137G>T	ENSP00000331210:p.Arg669Leu					RP11-284F21.7_ENST00000448869.1_RNA	p.R669L	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN			9	2342	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		669			EGF-like.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Missense_Mutation	SNP	ENST00000329117.5	37	c.2006G>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	G	10.38	1.334015	0.24253	.	.	ENSG00000132692	ENST00000329117	D	0.92397	-3.03	5.42	2.16	0.27623	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.326943	0.25695	N	0.028917	D	0.82337	0.5015	L	0.58925	1.835	0.80722	D	1	B	0.29612	0.251	B	0.34779	0.189	T	0.78018	-0.2368	10	0.28530	T	0.3	-19.1406	4.8147	0.13360	0.2285:0.0:0.601:0.1705	.	669	Q96GW7	PGCB_HUMAN	L	669	ENSP00000331210:R669L	ENSP00000331210:R669L	R	+	2	0	BCAN	154892761	0.000000	0.05858	1.000000	0.80357	0.254000	0.26022	-0.169000	0.09911	1.293000	0.44690	-0.254000	0.11334	CGC		0.637	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		12	169	1	0	3.27435e-08	1	3.38171e-08	12	169				
RNF217	154214	broad.mit.edu	37	6	125379204	125379204	+	Silent	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:125379204C>T	ENST00000521654.2	+	3	1233	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000560949.1_Silent_p.S176S|RNF217_ENST00000359704.2_Silent_p.S119S|RNF217_ENST00000275184.6_Silent_p.S55S			Q8TC41	RN217_HUMAN	ring finger protein 217	411					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ACTGGGCCAGCGAAATTGAGC	0.448																																						ENST00000521654.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11						c.(1231-1233)agC>agT		ring finger protein 217							104.0	97.0	100.0					6																	125379204		2203	4300	6503	SO:0001819	synonymous_variant	154214				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr6:125379204C>T	BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"""RING-type (C3HC4) zinc fingers"""	21487	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 172"", ""IBR domain containing 1"""	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.1233C>T	6.37:g.125379204C>T						RNF217_ENST00000275184.6_Silent_p.S55S|RNF217_ENST00000560949.1_Silent_p.S176S|RNF217_ENST00000368414.2_5'UTR|RNF217_ENST00000359704.2_Silent_p.S119S	p.S411S			Q8TC41	RN217_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)	3	1233	+			119					H7C5V4|Q5TCA4|Q9BX48	Silent	SNP	ENST00000521654.2	37	c.1233C>T																																																																																					0.448	RNF217-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000042063.3	NM_152553		17	48	0	0	0	1	0	17	48				
RSC1A1	6248	broad.mit.edu	37	1	15986468	15986468	+	Silent	SNP	T	T	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:15986468T>G	ENST00000345034.1	+	1	105	c.105T>G	c.(103-105)gcT>gcG	p.A35A	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	35					intestinal absorption (GO:0050892)|negative regulation of transport (GO:0051051)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	brush border (GO:0005903)|cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel inhibitor activity (GO:0008200)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTCTCTGCTTCAGTCTGCC	0.473																																						ENST00000345034.1																			0				kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11						c.(103-105)gcT>gcG		regulatory solute carrier protein, family 1, member 1							189.0	195.0	193.0					1																	15986468		2203	4300	6503	SO:0001819	synonymous_variant	6248				negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity	g.chr1:15986468T>G	BN000122, X82877	CCDS161.1	1p36.1	1998-08-25			ENSG00000215695	ENSG00000215695			10458	protein-coding gene	gene with protein product		601966					Standard	NM_006511		Approved	RS1	uc010obn.2	Q92681	OTTHUMG00000067830	ENST00000345034.1:c.105T>G	1.37:g.15986468T>G						DDI2_ENST00000480945.1_3'UTR	p.A35A	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	1	105	+		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)	35					B2RBP5	Silent	SNP	ENST00000345034.1	37	c.105T>G	CCDS161.1																																																																																				0.473	RSC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145500.1	NM_006511		54	233	0	0	0	1	0	54	233				
MEGF9	1955	broad.mit.edu	37	9	123367875	123367875	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr9:123367875T>C	ENST00000373930.3	-	6	1513	c.1402A>G	c.(1402-1404)Aat>Gat	p.N468D	MEGF9_ENST00000426959.1_Missense_Mutation_p.N505D	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	468						integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						AAAGAGGCATTGGAAACCAAA	0.363																																						ENST00000373930.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						c.(1402-1404)Aat>Gat		multiple EGF-like-domains 9							46.0	42.0	43.0					9																	123367875		1845	4101	5946	SO:0001583	missense	1955					integral to membrane	calcium ion binding	g.chr9:123367875T>C	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1402A>G	9.37:g.123367875T>C	ENSP00000363040:p.Asn468Asp					MEGF9_ENST00000426959.1_Missense_Mutation_p.N505D	p.N468D	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN			6	1513	-			468					B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	c.1402A>G	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	T	16.03	3.008561	0.54361	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.18960	2.18;2.24	5.62	5.62	0.85841	.	0.346330	0.33691	N	0.004643	T	0.27559	0.0677	N	0.24115	0.695	0.36817	D	0.88619	D	0.63880	0.993	P	0.59948	0.866	T	0.15435	-1.0437	10	0.25106	T	0.35	-11.5649	14.391	0.66978	0.0:0.0:0.0:1.0	.	505	C9J1K8	.	D	468;505	ENSP00000363040:N468D;ENSP00000392666:N505D	ENSP00000363040:N468D	N	-	1	0	MEGF9	122407696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.879000	0.39618	2.150000	0.67090	0.533000	0.62120	AAT		0.363	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		10	6	0	0	0	1	0	10	6				
FRMPD3	84443	broad.mit.edu	37	X	106844000	106844000	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chrX:106844000G>A	ENST00000276185.4	+	16	2830	c.2830G>A	c.(2830-2832)Gaa>Aaa	p.E944K				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	944						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						GGCAGGCCTAGAAATGTCACT	0.567																																						ENST00000276185.4																			0				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						c.(2830-2832)Gaa>Aaa		FERM and PDZ domain containing 3							22.0	19.0	20.0					X																	106844000		876	1991	2867	SO:0001583	missense	84443					cytoskeleton		g.chrX:106844000G>A	AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.2830G>A	X.37:g.106844000G>A	ENSP00000276185:p.Glu944Lys						p.E944K			Q5JV73	FRPD3_HUMAN			16	2830	+			944					Q96JK8	Missense_Mutation	SNP	ENST00000276185.4	37	c.2830G>A		.	.	.	.	.	.	.	.	.	.	G	13.98	2.398860	0.42512	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.24151	1.87;1.93	4.61	4.61	0.57282	.	0.711202	0.14406	N	0.321546	T	0.25791	0.0628	N	0.24115	0.695	0.25738	N	0.985193	.	.	.	.	.	.	T	0.17992	-1.0351	8	0.62326	D	0.03	.	13.688	0.62529	0.0:0.0:1.0:0.0	.	.	.	.	K	944;892	ENSP00000276185:E944K;ENSP00000398668:E892K	ENSP00000276185:E944K	E	+	1	0	FRMPD3	106730656	1.000000	0.71417	0.975000	0.42487	0.719000	0.41307	4.819000	0.62664	2.123000	0.65237	0.429000	0.28392	GAA		0.567	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_042978		7	18	0	0	0	1	0	7	18				
GAL3ST4	79690	broad.mit.edu	37	7	99758242	99758242	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr7:99758242T>C	ENST00000360039.4	-	4	1162	c.770A>G	c.(769-771)aAt>aGt	p.N257S	C7orf43_ENST00000457641.1_5'Flank|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.M156V|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.M156V|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.N257S|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.N195S|C7orf43_ENST00000419841.1_5'Flank|C7orf43_ENST00000316937.3_5'Flank	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	257					cell-cell signaling (GO:0007267)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATGAGGGCATTGGGATTGAG	0.557																																						ENST00000360039.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(769-771)aAt>aGt		galactose-3-O-sulfotransferase 4							117.0	124.0	121.0					7																	99758242		2203	4296	6499	SO:0001583	missense	79690				cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr7:99758242T>C	AF316113	CCDS5688.1	7q22.1	2007-04-02			ENSG00000197093	ENSG00000197093		"""Sulfotransferases, membrane-bound"""	24145	protein-coding gene	gene with protein product		608235				11333265	Standard	NM_024637		Approved	FLJ12116	uc003utu.3	Q96RP7	OTTHUMG00000154885	ENST00000360039.4:c.770A>G	7.37:g.99758242T>C	ENSP00000353142:p.Asn257Ser					GAL3ST4_ENST00000426974.2_Missense_Mutation_p.N195S|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.M156V|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.N257S|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.M156V	p.N257S	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN			4	1162	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		257					A4D2A8|B4DWL8|D6W5U5|Q8N3P7|Q8WZ17|Q96E33|Q9HA78	Missense_Mutation	SNP	ENST00000360039.4	37	c.770A>G	CCDS5688.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	6.121|6.121	0.390499|0.390499	0.11581|0.11581	.|.	.|.	ENSG00000197093|ENSG00000197093	ENST00000423751;ENST00000411994|ENST00000413800;ENST00000360039;ENST00000426974	.|T;T;T	.|0.32753	.|1.53;1.53;1.44	4.45|4.45	2.07|2.07	0.26955|0.26955	.|.	.|2.095530	.|0.03027	.|U	.|0.151555	T|T	0.21921|0.21921	0.0528|0.0528	N|N	0.19112|0.19112	0.55|0.55	0.23841|0.23841	N|N	0.996691|0.996691	.|B;B	.|0.29037	.|0.231;0.01	.|B;B	.|0.27608	.|0.081;0.004	T|T	0.21518|0.21518	-1.0243|-1.0243	6|10	0.87932|0.32370	D|T	0|0.25	0.0511|0.0511	7.0094|7.0094	0.24853|0.24853	0.0:0.1964:0.0:0.8036|0.0:0.1964:0.0:0.8036	.|.	.|195;257	.|B4DWL8;Q96RP7	.|.;G3ST4_HUMAN	V|S	156|257;257;195	.|ENSP00000400451:N257S;ENSP00000353142:N257S;ENSP00000398304:N195S	ENSP00000414733:M156V|ENSP00000353142:N257S	M|N	-|-	1|2	0|0	GAL3ST4|GAL3ST4	99596178|99596178	0.927000|0.927000	0.31430|0.31430	0.969000|0.969000	0.41365|0.41365	0.253000|0.253000	0.25986|0.25986	0.547000|0.547000	0.23299|0.23299	0.264000|0.264000	0.21851|0.21851	0.418000|0.418000	0.28097|0.28097	ATG|AAT		0.557	GAL3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337495.2	NM_024637		60	141	0	0	0	1	0	60	141				
CR1	1378	broad.mit.edu	37	1	207679361	207679361	+	Silent	SNP	C	C	T	rs142605009	byFrequency	TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:207679361C>T	ENST00000367049.4	+	2	234	c.234C>T	c.(232-234)tcC>tcT	p.S78S	CR1_ENST00000400960.2_Silent_p.S78S|CR1_ENST00000367053.1_Silent_p.S78S|CR1_ENST00000367051.1_Silent_p.S78S|CR1_ENST00000367052.1_Silent_p.S78S|CR1_ENST00000367050.4_3'UTR	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	78	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGGTTATTCCGGAAGACCGT	0.483													T|||	4	0.000798722	0.0	0.0029	5008	,	,		18695	0.0		0.002	False		,,,				2504	0.0					ENST00000367049.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						c.(232-234)tcC>tcT		complement component (3b/4b) receptor 1 (Knops blood group)		T	,	0,3674		0,0,1837	165.0	153.0	156.0		234,234	-8.3	0.0	1	dbSNP_134	156	3,8153		0,3,4075	no	coding-synonymous,coding-synonymous	CR1	NM_000573.3,NM_000651.4	,	0,3,5912	TT,TC,CC		0.0368,0.0,0.0254	,	78/2040,78/2490	207679361	3,11827	1837	4078	5915	SO:0001819	synonymous_variant	1378				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity	g.chr1:207679361C>T	Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.234C>T	1.37:g.207679361C>T						CR1_ENST00000367052.1_Silent_p.S78S|CR1_ENST00000367051.1_Silent_p.S78S|CR1_ENST00000367053.1_Silent_p.S78S|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000400960.2_Silent_p.S78S	p.S78S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN			2	234	+			78			Sushi 1.		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Silent	SNP	ENST00000367049.4	37	c.234C>T	CCDS44308.1	4	0.0018315018315018315	0	0.0	2	0.0055248618784530384	0	0.0	2	0.002638522427440633	T	3.533	-0.095346	0.07010	0.0	3.68E-4	ENSG00000203710	ENST00000529814	.	.	.	4.13	-8.26	0.01021	.	.	.	.	.	T	0.11024	0.0269	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.11591	-1.0581	4	.	.	.	.	1.5099	0.02494	0.1693:0.3336:0.1682:0.3289	.	.	.	.	L	54	.	.	P	+	2	0	CR1	205745984	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.212000	0.00273	-2.903000	0.00311	-3.477000	0.00034	CCG		0.483	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382527.1	NM_000573		27	179	0	0	0	1	0	27	179				
IL6	3569	broad.mit.edu	37	7	22767071	22767071	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr7:22767071G>A	ENST00000404625.1	+	3	487	c.28G>A	c.(28-30)Ggt>Agt	p.G10S	IL6_ENST00000420258.2_Missense_Mutation_p.G64S|IL6_ENST00000406575.1_Missense_Mutation_p.G10S|IL6_ENST00000401630.3_Intron|IL6_ENST00000401651.1_Intron|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000407492.1_Intron|IL6_ENST00000258743.5_Missense_Mutation_p.G10S			P05231	IL6_HUMAN	interleukin 6	10					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	AGGCGCCTTCGGTCCAGTTGC	0.687											OREG0017891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(47;342 1214 13936 33513)	ENST00000404625.1																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8						c.(28-30)Ggt>Agt		interleukin 6 (interferon, beta 2)	Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)						33.0	34.0	34.0					7																	22767071		2203	4300	6503	SO:0001583	missense	3569				acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding	g.chr7:22767071G>A	M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"""Interleukins and interleukin receptors"", ""Interferons"""	6018	protein-coding gene	gene with protein product	"""interferon, beta 2"""	147620	"""interleukin 6 (interferon, beta 2)"""	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.28G>A	7.37:g.22767071G>A	ENSP00000385675:p.Gly10Ser		OREG0017891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	758	AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000258743.5_Missense_Mutation_p.G10S|IL6_ENST00000420258.2_Missense_Mutation_p.G64S|IL6_ENST00000407492.1_Intron|IL6_ENST00000406575.1_Missense_Mutation_p.G10S|IL6_ENST00000401630.3_Intron|IL6_ENST00000401651.1_Intron	p.G10S			P05231	IL6_HUMAN			3	487	+			10					Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	c.28G>A	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524502	0.64747	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000258743;ENST00000420258;ENST00000406575	T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;0.92;-0.42	5.37	-1.14	0.09741	.	1.738510	0.01926	N	0.040854	T	0.30792	0.0776	N	0.01874	-0.695	0.09310	N	0.999998	B;B;B	0.14438	0.002;0.01;0.0	B;B;B	0.06405	0.0;0.002;0.001	T	0.41910	-0.9482	10	0.05436	T	0.98	0.1711	0.0713	0.00022	0.3348:0.213:0.1994:0.2528	.	64;10;10	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	S	10;10;10;64;10	ENSP00000385675:G10S;ENSP00000405150:G10S;ENSP00000258743:G10S;ENSP00000405994:G64S;ENSP00000385227:G10S	ENSP00000258743:G10S	G	+	1	0	IL6	22733596	0.274000	0.24191	0.007000	0.13788	0.250000	0.25880	0.450000	0.21762	-0.076000	0.12775	-0.678000	0.03780	GGT		0.687	IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600		12	29	0	0	0	1	0	12	29				
ENPP1	5167	broad.mit.edu	37	6	132201045	132201045	+	Missense_Mutation	SNP	A	A	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:132201045A>T	ENST00000360971.2	+	20	1991	c.1971A>T	c.(1969-1971)ttA>ttT	p.L657F		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	657	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ATGAAACTTTACCCTATGGAA	0.378																																					Colon(104;336 1535 5856 11019 33782)	ENST00000360971.2																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46						c.(1969-1971)ttA>ttT		ectonucleotide pyrophosphatase/phosphodiesterase 1	Amifostine(DB01143)|Ribavirin(DB00811)						126.0	121.0	123.0					6																	132201045		2203	4300	6503	SO:0001583	missense	5167				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity	g.chr6:132201045A>T	M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1971A>T	6.37:g.132201045A>T	ENSP00000354238:p.Leu657Phe						p.L657F	NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN		GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	20	1991	+	Breast(56;0.0505)		657			Nuclease.		Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	ENST00000360971.2	37	c.1971A>T	CCDS5150.2	.	.	.	.	.	.	.	.	.	.	A	33	5.244598	0.95272	.	.	ENSG00000197594	ENST00000360971	T	0.75260	-0.92	5.84	-3.5	0.04710	.	0.252060	0.32204	N	0.006440	T	0.63379	0.2506	M	0.67569	2.06	0.45427	D	0.998405	P	0.48640	0.913	P	0.50231	0.635	T	0.67585	-0.5633	10	0.56958	D	0.05	-1.953	8.7849	0.34814	0.3142:0.0:0.5657:0.1201	.	657	P22413	ENPP1_HUMAN	F	657	ENSP00000354238:L657F	ENSP00000354238:L657F	L	+	3	2	ENPP1	132242738	0.874000	0.30092	0.236000	0.24074	0.873000	0.50193	0.021000	0.13489	-0.510000	0.06523	0.460000	0.39030	TTA		0.378	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042238.2			57	63	0	0	0	1	0	57	63				
KIF23	9493	broad.mit.edu	37	15	69732777	69732777	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr15:69732777G>A	ENST00000260363.4	+	17	2135	c.2018G>A	c.(2017-2019)cGa>cAa	p.R673Q	KIF23_ENST00000395392.2_Missense_Mutation_p.R673Q|KIF23_ENST00000559279.1_Missense_Mutation_p.R673Q|KIF23_ENST00000352331.4_Missense_Mutation_p.R673Q|KIF23_ENST00000537891.1_Missense_Mutation_p.R490Q|KIF23_ENST00000558585.1_Missense_Mutation_p.R490Q	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	673					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TCTCGGGAGCGAGATCGAGAA	0.388																																						ENST00000260363.4																			0				central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						c.(2017-2019)cGa>cAa		kinesin family member 23							79.0	83.0	82.0					15																	69732777		2199	4298	6497	SO:0001583	missense	9493				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding	g.chr15:69732777G>A	X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.2018G>A	15.37:g.69732777G>A	ENSP00000260363:p.Arg673Gln					KIF23_ENST00000558585.1_Missense_Mutation_p.R490Q|KIF23_ENST00000559279.1_Missense_Mutation_p.R673Q|KIF23_ENST00000352331.4_Missense_Mutation_p.R673Q|KIF23_ENST00000537891.1_Missense_Mutation_p.R490Q|KIF23_ENST00000395392.2_Missense_Mutation_p.R673Q	p.R673Q	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN			17	2135	+			673					Q8WVP0	Missense_Mutation	SNP	ENST00000260363.4	37	c.2018G>A	CCDS32278.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.751567	0.69533	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.62788	-0.0;-0.0;-0.0;-0.0	5.32	5.32	0.75619	.	0.234670	0.42294	D	0.000725	T	0.49695	0.1572	N	0.19112	0.55	0.44098	D	0.99686	B;D;D	0.63880	0.265;0.993;0.99	B;P;P	0.48400	0.047;0.576;0.505	T	0.38972	-0.9636	10	0.13108	T	0.6	.	11.7768	0.51991	0.0807:0.0:0.9193:0.0	.	490;673;673	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	Q	673;673;673;490	ENSP00000260363:R673Q;ENSP00000304978:R673Q;ENSP00000378790:R673Q;ENSP00000442969:R490Q	ENSP00000260363:R673Q	R	+	2	0	KIF23	67519831	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	3.052000	0.49893	2.641000	0.89580	0.591000	0.81541	CGA		0.388	KIF23-201	KNOWN	basic|CCDS	protein_coding	protein_coding				10	62	0	0	0	1	0	10	62				
RIC3	79608	broad.mit.edu	37	11	8161664	8161664	+	Missense_Mutation	SNP	G	G	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr11:8161664G>T	ENST00000309737.6	-	2	200	c.201C>A	c.(199-201)ttC>ttA	p.F67L	RIC3_ENST00000530060.1_5'Flank|RIC3_ENST00000539720.1_Missense_Mutation_p.F18L|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000343202.4_Missense_Mutation_p.F67L|RIC3_ENST00000425599.2_Missense_Mutation_p.F67L|RIC3_ENST00000419822.2_Missense_Mutation_p.F67L			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	67					cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		GAGACCTCTGGAAACGAGCCC	0.507																																						ENST00000343202.4																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17						c.(199-201)ttC>ttA		RIC3 acetylcholine receptor chaperone							87.0	90.0	89.0					11																	8161664		2201	4296	6497	SO:0001583	missense	79608					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr11:8161664G>T		CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.201C>A	11.37:g.8161664G>T	ENSP00000308820:p.Phe67Leu					RIC3_ENST00000539720.1_Missense_Mutation_p.F18L|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000419822.2_Missense_Mutation_p.F67L|RIC3_ENST00000425599.2_Missense_Mutation_p.F67L|RIC3_ENST00000309737.6_Missense_Mutation_p.F67L	p.F67L	NM_001206671.2|NM_024557.4	NP_001193600.1|NP_078833.3	Q7Z5B4	RIC3_HUMAN		Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)	2	266	-			67					B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	Missense_Mutation	SNP	ENST00000309737.6	37	c.201C>A	CCDS55742.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.819679	0.50633	.	.	ENSG00000166405	ENST00000343202;ENST00000309737;ENST00000543346;ENST00000539720;ENST00000425599;ENST00000531450;ENST00000419822	T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56	5.75	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.46560	0.1399	L	0.46885	1.475	0.80722	D	1	B;B;D;D;D	0.89917	0.027;0.095;0.998;1.0;1.0	B;B;D;D;D	0.85130	0.018;0.051;0.994;0.997;0.997	T	0.38672	-0.9650	10	0.49607	T	0.09	-14.0469	11.3815	0.49761	0.1895:0.0:0.8105:0.0	.	67;67;67;67;67	B7Z1U4;B0B1U0;Q7Z5B4-2;Q7Z5B4;Q7Z5B4-5	.;.;.;RIC3_HUMAN;.	L	67;67;67;18;67;67;67	ENSP00000344904:F67L;ENSP00000308820:F67L;ENSP00000443871:F18L;ENSP00000395320:F67L;ENSP00000431658:F67L;ENSP00000404415:F67L	ENSP00000308820:F67L	F	-	3	2	RIC3	8118240	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	1.490000	0.35573	1.426000	0.47256	0.650000	0.86243	TTC		0.507	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000385900.1	NM_024557		28	70	1	0	4.22769e-11	1	4.43908e-11	28	70				
LOC220729	220729	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C	rs371325185	byFrequency	TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398													g|||	29	0.00579073	0.0008	0.0072	5008	,	,		22210	0.002		0.0109	False		,,,				2504	0.0102					ENST00000418868.1																			0																																																			220729							g.chr3:197348739G>C																													3.37:g.197348739G>C								NR_003266.2						0	520	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.398	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			5	216	0	0	0	1	0	5	216				
RANBP2	5903	broad.mit.edu	37	2	109370370	109370370	+	Silent	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:109370370G>A	ENST00000283195.6	+	15	2271	c.2145G>A	c.(2143-2145)agG>agA	p.R715R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	715					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAAGACCAGGGACTACCTAA	0.353																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2143-2145)agG>agA		RAN binding protein 2							86.0	101.0	96.0					2																	109370370		2187	4289	6476	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109370370G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2145G>A	2.37:g.109370370G>A							p.R715R	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			15	2271	+			715					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2145G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		108	295	0	0	0	1	0	108	295				
COL12A1	1303	broad.mit.edu	37	6	75898158	75898158	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:75898158A>G	ENST00000322507.8	-	8	1226	c.917T>C	c.(916-918)gTg>gCg	p.V306A	COL12A1_ENST00000416123.2_Missense_Mutation_p.V306A|COL12A1_ENST00000483888.2_Missense_Mutation_p.V306A|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	306	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTGAATATCCACAATTGCATC	0.418																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(916-918)gTg>gCg		collagen, type XII, alpha 1							209.0	190.0	196.0					6																	75898158		1965	4156	6121	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75898158A>G	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.917T>C	6.37:g.75898158A>G	ENSP00000325146:p.Val306Ala					COL12A1_ENST00000483888.2_Missense_Mutation_p.V306A|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.V306A	p.V306A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			8	1226	-			306			VWFA 1.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.917T>C	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	A	9.500	1.102988	0.20632	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.76839	-1.05;-1.05;-1.05	6.06	6.06	0.98353	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000005	T	0.47021	0.1423	N	0.12831	0.26	0.33460	D	0.584783	P	0.44090	0.826	B	0.41946	0.371	T	0.54125	-0.8340	10	0.08837	T	0.75	.	16.6154	0.84909	1.0:0.0:0.0:0.0	.	306	Q99715	COCA1_HUMAN	A	306	ENSP00000325146:V306A;ENSP00000412864:V306A;ENSP00000421216:V306A	ENSP00000325146:V306A	V	-	2	0	COL12A1	75954878	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	4.312000	0.59154	2.315000	0.78130	0.533000	0.62120	GTG		0.418	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		8	161	0	0	0	1	0	8	161				
AP3S2	10239	broad.mit.edu	37	15	90378853	90378853	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr15:90378853G>A	ENST00000336418.4	-	6	868	c.476C>T	c.(475-477)gCg>gTg	p.A159V	AP3S2_ENST00000560771.1_5'UTR|AP3S2_ENST00000560940.1_Intron|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.A360V|AP3S2_ENST00000558011.1_Missense_Mutation_p.A171V	NM_005829.4	NP_005820.1	P59780	AP3S2_HUMAN	adaptor-related protein complex 3, sigma 2 subunit	159					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)	protein transporter activity (GO:0008565)			NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6	Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			CACAGCCCGCGCAGGGGCTGC	0.433																																						ENST00000336418.4																			0				NS(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(1)	6						c.(475-477)gCg>gTg		adaptor-related protein complex 3, sigma 2 subunit							105.0	104.0	104.0					15																	90378853		2200	4299	6499	SO:0001583	missense	10239							g.chr15:90378853G>A	X99459	CCDS10357.1	15q26.1	2010-08-13			ENSG00000157823	ENSG00000157823			571	protein-coding gene	gene with protein product		602416				9118953	Standard	NM_005829		Approved	sigma3b		P59780	OTTHUMG00000149811	ENST00000336418.4:c.476C>T	15.37:g.90378853G>A	ENSP00000338777:p.Ala159Val					AP3S2_ENST00000560771.1_5'UTR|AP3S2_ENST00000558011.1_Missense_Mutation_p.A171V|C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.A360V|AP3S2_ENST00000560940.1_Intron	p.A159V	NM_005829.4	NP_005820.1			BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)		6	868	-	Lung NSC(78;0.0181)|all_lung(78;0.0384)							B2R677|B4DGQ3|O09077|O09149|Q53H83|Q99589	Missense_Mutation	SNP	ENST00000336418.4	37	c.476C>T	CCDS10357.1	.	.	.	.	.	.	.	.	.	.	G	13.77	2.335993	0.41398	.	.	ENSG00000157823;ENSG00000250021	ENST00000336418;ENST00000398333	T;T	0.49139	0.79;0.86	5.51	4.59	0.56863	.	0.242198	0.33496	N	0.004842	T	0.41259	0.1151	M	0.62723	1.935	0.80722	D	1	P;B	0.38335	0.627;0.027	B;B	0.28232	0.087;0.014	T	0.45071	-0.9286	10	0.54805	T	0.06	-13.8342	12.4702	0.55783	0.0816:0.0:0.9184:0.0	.	360;159	E2QRD5;P59780	.;AP3S2_HUMAN	V	159;360	ENSP00000338777:A159V;ENSP00000381377:A360V	ENSP00000338777:A159V	A	-	2	0	C15orf38-AP3S2;AP3S2	88179857	1.000000	0.71417	0.294000	0.24946	0.027000	0.11550	8.811000	0.91954	1.456000	0.47831	-0.140000	0.14226	GCG		0.433	AP3S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313422.1			43	117	0	0	0	1	0	43	117				
AHCTF1	25909	broad.mit.edu	37	1	247016551	247016551	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:247016551C>T	ENST00000391829.2	-	32	4528	c.4405G>A	c.(4405-4407)Gaa>Aaa	p.E1469K	AHCTF1_ENST00000366508.1_Missense_Mutation_p.E1504K|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E1478K|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1469	Disordered. {ECO:0000250}.|Mediates transcriptional activity. {ECO:0000250}.|Necessary for nuclear localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATAGGACCTTCAGAGATAGTG	0.388																																					Colon(145;197 1800 4745 15099 26333)	ENST00000366508.1																			0				NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74						c.(4510-4512)Gaa>Aaa		AT hook containing transcription factor 1							52.0	48.0	49.0					1																	247016551		2203	4300	6503	SO:0001583	missense	25909				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding	g.chr1:247016551C>T		CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.4405G>A	1.37:g.247016551C>T	ENSP00000375705:p.Glu1469Lys					AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.E1478K|AHCTF1_ENST00000391829.2_Missense_Mutation_p.E1469K	p.E1504K			Q8WYP5	ELYS_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00271)		32	4646	-	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	1469			Mediates transcriptional activity (By similarity).|Necessary for nuclear localization (By similarity).		A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	ENST00000391829.2	37	c.4510G>A		.	.	.	.	.	.	.	.	.	.	C	11.23	1.576657	0.28092	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.32515	1.45;1.45;1.45	5.23	4.31	0.51392	.	0.731612	0.13046	N	0.418100	T	0.23249	0.0562	L	0.28274	0.84	0.26931	N	0.966459	P;B;B	0.40731	0.728;0.004;0.006	B;B;B	0.42245	0.381;0.011;0.005	T	0.05632	-1.0873	10	0.17369	T	0.5	-10.765	10.077	0.42366	0.0:0.9052:0.0:0.0948	.	330;1504;1469	B3KTD2;Q8WYP5-2;Q8WYP5	.;.;ELYS_HUMAN	K	1504;1478;1469	ENSP00000355464:E1504K;ENSP00000355465:E1478K;ENSP00000375705:E1469K	ENSP00000355465:E1478K	E	-	1	0	AHCTF1	245083174	1.000000	0.71417	0.854000	0.33618	0.256000	0.26092	1.884000	0.39668	1.403000	0.46800	0.650000	0.86243	GAA		0.388	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_015446		28	73	0	0	0	1	0	28	73				
PLEKHG6	55200	broad.mit.edu	37	12	6435720	6435720	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:6435720C>T	ENST00000396988.3	+	14	1881	c.1651C>T	c.(1651-1653)Cag>Tag	p.Q551*	PLEKHG6_ENST00000304581.8_Nonsense_Mutation_p.Q81*|PLEKHG6_ENST00000449001.2_Nonsense_Mutation_p.Q519*|PLEKHG6_ENST00000011684.7_Nonsense_Mutation_p.Q551*	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	551						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GGAGGGCTCTCAGAGCAGCGC	0.597																																						ENST00000449001.2																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						c.(1555-1557)Cag>Tag		pleckstrin homology domain containing, family G (with RhoGef domain) member 6							27.0	26.0	27.0					12																	6435720		2203	4300	6503	SO:0001587	stop_gained	55200				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr12:6435720C>T	AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.1651C>T	12.37:g.6435720C>T	ENSP00000380185:p.Gln551*					PLEKHG6_ENST00000304581.8_Nonsense_Mutation_p.Q81*|PLEKHG6_ENST00000011684.7_Nonsense_Mutation_p.Q551*|PLEKHG6_ENST00000396988.3_Nonsense_Mutation_p.Q551*	p.Q519*	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN			13	2049	+			551					Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Nonsense_Mutation	SNP	ENST00000396988.3	37	c.1555C>T	CCDS8541.1	.	.	.	.	.	.	.	.	.	.	C	39	7.800935	0.98498	.	.	ENSG00000008323	ENST00000011684;ENST00000396988;ENST00000449001;ENST00000304581	.	.	.	5.11	4.22	0.49857	.	0.275092	0.28724	N	0.014343	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.16420	T	0.52	-11.1098	11.6704	0.51396	0.0:0.8222:0.1778:0.0	.	.	.	.	X	551;551;519;81	.	ENSP00000011684:Q551X	Q	+	1	0	PLEKHG6	6305981	0.998000	0.40836	0.991000	0.47740	0.952000	0.60782	1.989000	0.40707	1.385000	0.46445	0.650000	0.86243	CAG		0.597	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399031.1	NM_018173		17	23	0	0	0	1	0	17	23				
ZNF226	7769	broad.mit.edu	37	19	44680435	44680435	+	Silent	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:44680435T>C	ENST00000590089.1	+	7	1387	c.1020T>C	c.(1018-1020)tgT>tgC	p.C340C	ZNF226_ENST00000454662.2_Silent_p.C340C|ZNF226_ENST00000337433.5_Silent_p.C340C|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	340					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				GTAAGCAATGTGGGAAAGGTT	0.453																																					Pancreas(115;581 1665 13228 19278 50070)	ENST00000590089.1																			0											c.(1018-1020)tgT>tgC		zinc finger protein 226							91.0	97.0	95.0					19																	44680435		2196	4299	6495	SO:0001819	synonymous_variant	7769				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44680435T>C	AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1020T>C	19.37:g.44680435T>C						ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Silent_p.C340C|ZNF226_ENST00000337433.5_Silent_p.C340C	p.C340C			Q9NYT6	ZN226_HUMAN			7	1387	+		Prostate(69;0.0352)|all_neural(266;0.202)	340					Q8WWE6|Q96TE6|Q9NS44	Silent	SNP	ENST00000590089.1	37	c.1020T>C	CCDS46102.1																																																																																				0.453	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460712.1			18	99	0	0	0	1	0	18	99				
MRPL51	51258	broad.mit.edu	37	12	6602125	6602125	+	Silent	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:6602125C>T	ENST00000229238.3	-	2	554	c.93G>A	c.(91-93)ttG>ttA	p.L31L	NCAPD2_ENST00000545962.1_5'Flank|MRPL51_ENST00000543703.1_Intron|NCAPD2_ENST00000315579.5_5'Flank|MRPL51_ENST00000543164.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	31					translation (GO:0006412)	mitochondrial large ribosomal subunit (GO:0005762)|mitochondrial ribosome (GO:0005761)	structural constituent of ribosome (GO:0003735)			kidney(2)|large_intestine(1)|lung(3)	6						TTATACCGATCAATCTAGGCA	0.522																																						ENST00000229238.3																			0				kidney(2)|large_intestine(1)|lung(3)	6						c.(91-93)ttG>ttA		mitochondrial ribosomal protein L51							80.0	84.0	83.0					12																	6602125		2203	4300	6503	SO:0001819	synonymous_variant	51258				translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome	g.chr12:6602125C>T	AB051355	CCDS8547.1	12p13.3-p13.1	2014-02-19	2002-01-07	2002-01-11		ENSG00000111639		"""Mitochondrial ribosomal proteins / large subunits"""	14044	protein-coding gene	gene with protein product		611855	"""mitochondrial ribosomal protein 64"""	MRP64		11551941, 11543634	Standard	NM_016497		Approved	CDA09, HSPC241, bMRP64	uc001qom.2	Q4U2R6		ENST00000229238.3:c.93G>A	12.37:g.6602125C>T						MRPL51_ENST00000543703.1_Intron|MRPL51_ENST00000543164.1_5'UTR	p.L31L	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN			2	554	-			31					Q96Q57|Q9BQ36|Q9P0N7	Silent	SNP	ENST00000229238.3	37	c.93G>A	CCDS8547.1																																																																																				0.522	MRPL51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399956.1	NM_016497		18	107	0	0	0	1	0	18	107				
AR	367	broad.mit.edu	37	X	66943631	66943631	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chrX:66943631T>C	ENST00000374690.3	+	8	3235	c.2711T>C	c.(2710-2712)gTg>gCg	p.V904A	AR_ENST00000396043.2_Missense_Mutation_p.V372A|AR_ENST00000396044.3_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	903	Interaction with KAT7.|Interaction with LPXN.|Ligand-binding.		P -> H (in AIS).|P -> S (in AIS).		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TCTGTGCAAGTGCCCAAGATC	0.502									Androgen Insensitivity Syndrome																													ENST00000374690.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67						c.(2710-2712)gTg>gCg		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)						196.0	159.0	172.0					X																	66943631		2203	4300	6503	SO:0001583	missense	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66943631T>C	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.2711T>C	X.37:g.66943631T>C	ENSP00000363822:p.Val904Ala					AR_ENST00000396043.2_Missense_Mutation_p.V372A|AR_ENST00000396044.3_3'UTR	p.V904A	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			8	3235	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	903		P -> H (in AIS).|P -> S (in AIS).	Interaction with MYST2.|Ligand-binding.		A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	ENST00000374690.3	37	c.2711T>C	CCDS14387.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.458034	0.84317	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000396043	D;D	0.99771	-6.71;-6.71	5.18	5.18	0.71444	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.99632	0.9865	M	0.77103	2.36	0.80722	D	1	D;D	0.67145	0.975;0.996	P;D	0.63488	0.852;0.915	D	0.97672	1.0167	10	0.87932	D	0	.	11.8153	0.52207	0.0:0.0:0.0:1.0	.	372;903	F1D8N5;P10275	.;ANDR_HUMAN	A	722;904;372	ENSP00000363822:V904A;ENSP00000379358:V372A	ENSP00000363822:V904A	V	+	2	0	AR	66860356	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.868000	0.87116	1.919000	0.55581	0.481000	0.45027	GTG		0.502	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		8	132	0	0	0	1	0	8	132				
PLD5	200150	broad.mit.edu	37	1	242511527	242511527	+	Silent	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:242511527G>A	ENST00000536534.2	-	2	448	c.207C>T	c.(205-207)atC>atT	p.I69I	PLD5_ENST00000442594.2_5'UTR|PLD5_ENST00000427495.1_Silent_p.I7I			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5	69						integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			CAAAGATCACGATGCACTTCT	0.453																																						ENST00000427495.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55						c.(19-21)atC>atT		phospholipase D family, member 5							42.0	30.0	33.0					1																	242511527		692	1589	2281	SO:0001819	synonymous_variant	200150					integral to membrane	catalytic activity	g.chr1:242511527G>A	AK098092	CCDS1621.1, CCDS1621.2, CCDS55692.1	1q43	2008-02-05			ENSG00000180287	ENSG00000180287			26879	protein-coding gene	gene with protein product							Standard	NM_001195811		Approved	FLJ40773	uc001hzn.2	Q8N7P1	OTTHUMG00000039867	ENST00000536534.2:c.207C>T	1.37:g.242511527G>A						PLD5_ENST00000536534.1_Silent_p.I69I|PLD5_ENST00000442594.2_5'UTR	p.I7I	NM_001195811.1|NM_001195812.1	NP_001182740.1|NP_001182741.1	Q8N7P1	PLD5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0329)		2	146	-	Melanoma(84;0.242)		69					A1KXV0|B7Z324|Q494U9|Q8NB22	Silent	SNP	ENST00000536534.2	37	c.21C>T	CCDS1621.2																																																																																				0.453	PLD5-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397213.2	NM_152666		43	77	0	0	0	1	0	43	77				
OR4D10	390197	broad.mit.edu	37	11	59245409	59245409	+	Silent	SNP	C	C	T	rs375485138		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr11:59245409C>T	ENST00000530162.1	+	1	564	c.507C>T	c.(505-507)tgC>tgT	p.C169C		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	169						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCCCTTTCTGCGGACCCAATG	0.498																																						ENST00000530162.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(505-507)tgC>tgT		olfactory receptor, family 4, subfamily D, member 10		T		2,4400	821.3+/-416.4	0,2,2199	111.0	111.0	111.0		507	4.7	1.0	11		111	0,8590		0,0,4295	no	coding-synonymous	OR4D10	NM_001004705.1		0,2,6494	TT,TC,CC		0.0,0.0454,0.0154		169/312	59245409	2,12990	2201	4295	6496	SO:0001819	synonymous_variant	390197				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59245409C>T	AB065808	CCDS53636.1	11q12.1	2012-10-03		2004-03-10	ENSG00000254466	ENSG00000254466		"""GPCR / Class A : Olfactory receptors"""	15173	protein-coding gene	gene with protein product				OR4D10P			Standard	NM_001004705		Approved	OST711	uc001nnz.1	Q8NGI6	OTTHUMG00000167341	ENST00000530162.1:c.507C>T	11.37:g.59245409C>T							p.C169C	NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN			1	564	+			169					B2RNH6	Silent	SNP	ENST00000530162.1	37	c.507C>T	CCDS53636.1																																																																																				0.498	OR4D10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394235.1	NM_001004705		47	112	0	0	0	1	0	47	112				
PCCA	5095	broad.mit.edu	37	13	100992479	100992479	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr13:100992479C>T	ENST00000376285.1	+	18	1647	c.1609C>T	c.(1609-1611)Cag>Tag	p.Q537*	PCCA_ENST00000376286.4_Nonsense_Mutation_p.Q511*|PCCA_ENST00000376279.3_Nonsense_Mutation_p.Q537*	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	537					biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|propionyl-CoA carboxylase activity (GO:0004658)			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGTGGCATTCCAGTTAAGAGC	0.353																																						ENST00000376285.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26						c.(1609-1611)Cag>Tag		propionyl CoA carboxylase, alpha polypeptide	Biotin(DB00121)						163.0	146.0	152.0					13																	100992479		2203	4300	6503	SO:0001587	stop_gained	5095				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	g.chr13:100992479C>T	X14608	CCDS9496.2, CCDS45065.1, CCDS53878.1	13q32	2011-01-14	2010-04-30		ENSG00000175198	ENSG00000175198	6.4.1.3		8653	protein-coding gene	gene with protein product		232000	"""propionyl Coenzyme A carboxylase, alpha polypeptide"""			1427880	Standard	NM_000282		Approved		uc001voo.3	P05165	OTTHUMG00000017284	ENST00000376285.1:c.1609C>T	13.37:g.100992479C>T	ENSP00000365462:p.Gln537*					PCCA_ENST00000376286.4_Nonsense_Mutation_p.Q511*|PCCA_ENST00000376279.3_Nonsense_Mutation_p.Q537*	p.Q537*	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN			18	1647	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		537					B4DKY8|B4DPF9|C9JPQ8|Q15979|Q8WXQ7	Nonsense_Mutation	SNP	ENST00000376285.1	37	c.1609C>T	CCDS9496.2	.	.	.	.	.	.	.	.	.	.	C	21.4	4.142622	0.77888	.	.	ENSG00000175198	ENST00000376286;ENST00000376279;ENST00000376285;ENST00000424527;ENST00000376254;ENST00000536640	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	18.3095	0.90194	0.0:1.0:0.0:0.0	.	.	.	.	X	511;537;537;71;128;33	.	ENSP00000365430:Q128X	Q	+	1	0	PCCA	99790480	0.994000	0.37717	0.866000	0.34008	0.276000	0.26787	3.526000	0.53509	2.653000	0.90120	0.650000	0.86243	CAG		0.353	PCCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045627.2			15	63	0	0	0	1	0	15	63				
CXorf23	256643	broad.mit.edu	37	X	19984742	19984742	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chrX:19984742C>T	ENST00000379682.4	-	2	100	c.67G>A	c.(67-69)Gct>Act	p.A23T	CXorf23_ENST00000356980.3_Missense_Mutation_p.A23T|CXorf23_ENST00000379687.3_Missense_Mutation_p.A23T			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	23						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TAGTGTTCAGCATTTCTAGGT	0.403																																						ENST00000379687.3																			0				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						c.(67-69)Gct>Act		chromosome X open reading frame 23							102.0	89.0	93.0					X																	19984742		1900	4107	6007	SO:0001583	missense	256643					mitochondrion		g.chrX:19984742C>T	AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.67G>A	X.37:g.19984742C>T	ENSP00000369004:p.Ala23Thr					CXorf23_ENST00000356980.3_Missense_Mutation_p.A23T|CXorf23_ENST00000379682.4_Missense_Mutation_p.A23T	p.A23T	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN			2	100	-			23					A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	ENST00000379682.4	37	c.67G>A		.	.	.	.	.	.	.	.	.	.	C	0.211	-1.036543	0.02013	.	.	ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980	T;T;T	0.13657	2.57;2.57;2.57	5.39	0.233	0.15386	.	.	.	.	.	T	0.04182	0.0116	N	0.03608	-0.345	0.21355	N	0.999711	B	0.06786	0.001	B	0.06405	0.002	T	0.43163	-0.9408	8	.	.	.	.	1.0259	0.01527	0.3955:0.1594:0.2958:0.1493	.	23	A2AJT9-2	.	T	23	ENSP00000369009:A23T;ENSP00000369004:A23T;ENSP00000349470:A23T	.	A	-	1	0	CXorf23	19894663	1.000000	0.71417	0.997000	0.53966	0.674000	0.39518	1.660000	0.37397	0.299000	0.22661	-1.222000	0.01597	GCT		0.403	CXorf23-006	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000055991.2	NM_198279		45	34	0	0	0	1	0	45	34				
CACNA1C	775	broad.mit.edu	37	12	2622102	2622102	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:2622102G>A	ENST00000347598.4	+	9	1342	c.1342G>A	c.(1342-1344)Gat>Aat	p.D448N	CACNA1C_ENST00000402845.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D448N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D448N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000399655.1_Missense_Mutation_p.D448N	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	448					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGAAGACATCGATCCTGAGAA	0.567																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(1342-1344)Gat>Aat		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						34.0	41.0	38.0					12																	2622102		2154	4278	6432	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2622102G>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1342G>A	12.37:g.2622102G>A	ENSP00000266376:p.Asp448Asn					CACNA1C_ENST00000399649.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D448N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D448N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D448N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D448N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D448N|CACNA1C_ENST00000491104.1_3'UTR	p.D448N	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	9	1607	+			448					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.1342G>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015481	0.93404	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.94000	-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33;-3.33	4.43	4.43	0.53597	.	0.232784	0.43260	D	0.000581	D	0.97561	0.9201	M	0.93283	3.4	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.994;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.832;0.996;0.974;0.992;0.996;0.998;0.996;0.998;0.997;0.988;0.998;0.996;0.922;0.998;0.99;0.995;0.992;0.964;0.998;0.981;0.992;0.998;0.998;0.992;0.996	D	0.98688	1.0695	10	0.87932	D	0	.	17.6038	0.88032	0.0:0.0:1.0:0.0	.	77;448;445;448;448;448;448;448;448;448;448;448;419;448;448;448;448;448;448;448;448;448;448;448;448	Q5V9X8;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	N	448;448;448;448;448;448;448;448;448;448;448;448;448;448;448;448;448;448;448;448;448;448;448;289	ENSP00000336982:D448N;ENSP00000382563:D448N;ENSP00000437936:D448N;ENSP00000382552:D448N;ENSP00000382547:D448N;ENSP00000382506:D448N;ENSP00000382530:D448N;ENSP00000382546:D448N;ENSP00000382500:D448N;ENSP00000382549:D448N;ENSP00000266376:D448N;ENSP00000382515:D448N;ENSP00000382510:D448N;ENSP00000341092:D448N;ENSP00000382537:D448N;ENSP00000329877:D448N;ENSP00000382557:D448N;ENSP00000385724:D448N;ENSP00000382512:D448N;ENSP00000382542:D448N;ENSP00000382526:D448N;ENSP00000385896:D448N;ENSP00000382504:D448N	ENSP00000323129:D289N	D	+	1	0	CACNA1C	2492363	1.000000	0.71417	0.988000	0.46212	0.874000	0.50279	9.593000	0.98250	2.465000	0.83290	0.655000	0.94253	GAT		0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		10	13	0	0	0	1	0	10	13				
FMO2	2327	broad.mit.edu	37	1	171162507	171162507	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:171162507C>A	ENST00000209929.7	+	3	324	c.166C>A	c.(166-168)Caa>Aaa	p.Q56K	FMO2_ENST00000529935.1_3'UTR|FMO2_ENST00000441535.1_Missense_Mutation_p.Q56K			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)	56					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AAGTATCTATCAATCTGTCGT	0.353																																						ENST00000441535.1																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22						c.(166-168)Caa>Aaa		flavin containing monooxygenase 2 (non-functional)							113.0	113.0	113.0					1																	171162507		2203	4300	6503	SO:0001583	missense	2327				drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171162507C>A	BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.166C>A	1.37:g.171162507C>A	ENSP00000209929:p.Gln56Lys					FMO2_ENST00000529935.1_3'UTR|RP1-45C12.1_ENST00000455124.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.Q56K	p.Q56K	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN			3	283	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		56					Q53XR0	Missense_Mutation	SNP	ENST00000209929.7	37	c.166C>A	CCDS1293.1	.	.	.	.	.	.	.	.	.	.	C	3.690	-0.063669	0.07273	.	.	ENSG00000094963	ENST00000209929;ENST00000441535	T;T	0.35605	1.3;1.3	5.2	2.05	0.26809	.	0.439986	0.26915	N	0.021852	T	0.02418	0.0074	N	0.01535	-0.81	0.22412	N	0.999128	B	0.02656	0.0	B	0.04013	0.001	T	0.45891	-0.9230	10	0.02654	T	1	-2.5424	4.6227	0.12463	0.2344:0.4676:0.2241:0.0739	.	56	Q99518	FMO2_HUMAN	K	56	ENSP00000209929:Q56K;ENSP00000405905:Q56K	ENSP00000209929:Q56K	Q	+	1	0	FMO2	169429131	0.000000	0.05858	0.984000	0.44739	0.914000	0.54420	0.022000	0.13511	1.152000	0.42452	0.655000	0.94253	CAA		0.353	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086216.2	NM_001460		49	176	1	0	1.67886e-27	1	1.808e-27	49	176				
TBX3	6926	broad.mit.edu	37	12	115120692	115120692	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:115120692A>G	ENST00000257566.3	-	1	703	c.314T>C	c.(313-315)gTg>gCg	p.V105A	TBX3_ENST00000349155.2_Missense_Mutation_p.V105A	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	105					anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CTCCAGGTGCACCTTGGGGTC	0.612																																						ENST00000349155.2																			0				breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(313-315)gTg>gCg		T-box 3							46.0	48.0	47.0					12																	115120692		2203	4300	6503	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115120692A>G	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.314T>C	12.37:g.115120692A>G	ENSP00000257566:p.Val105Ala					TBX3_ENST00000257566.3_Missense_Mutation_p.V105A	p.V105A	NM_005996.3	NP_005987.3	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	1	1277	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		105					Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.314T>C	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.701735	0.88924	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.93488	-3.23;-3.23	5.32	5.32	0.75619	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95984	0.8692	M	0.67953	2.075	0.80722	D	1	D;D;D	0.76494	0.997;0.998;0.999	D;D;D	0.87578	0.996;0.993;0.998	D	0.95951	0.8954	10	0.51188	T	0.08	.	15.2906	0.73862	1.0:0.0:0.0:0.0	.	105;105;105	B4E3A6;O15119-2;O15119	.;.;TBX3_HUMAN	A	105	ENSP00000257567:V105A;ENSP00000257566:V105A	ENSP00000257566:V105A	V	-	2	0	TBX3	113605075	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.014000	0.59158	0.533000	0.62120	GTG		0.612	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		40	49	0	0	0	1	0	40	49				
CILP	8483	broad.mit.edu	37	15	65490123	65490123	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr15:65490123T>C	ENST00000261883.4	-	9	2667	c.2501A>G	c.(2500-2502)cAa>cGa	p.Q834R		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	834					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTCCACTGCTTGCAGTTCCTC	0.562																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(2500-2502)cAa>cGa		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							81.0	71.0	74.0					15																	65490123		2200	4297	6497	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65490123T>C	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.2501A>G	15.37:g.65490123T>C	ENSP00000261883:p.Gln834Arg						p.Q834R	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			9	2667	-			834					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.2501A>G	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	T	13.79	2.341188	0.41498	.	.	ENSG00000138615	ENST00000261883	T	0.08458	3.09	5.34	5.34	0.76211	.	0.044732	0.85682	D	0.000000	T	0.05823	0.0152	N	0.08118	0	0.32758	N	0.505542	B	0.18610	0.029	B	0.16289	0.015	T	0.07868	-1.0750	10	0.87932	D	0	-25.869	14.8033	0.69932	0.0:0.0:0.0:1.0	.	834	O75339	CILP1_HUMAN	R	834	ENSP00000261883:Q834R	ENSP00000261883:Q834R	Q	-	2	0	CILP	63277176	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.993000	0.88291	2.146000	0.66826	0.379000	0.24179	CAA		0.562	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		34	89	0	0	0	1	0	34	89				
CRYBA4	1413	broad.mit.edu	37	22	27019317	27019317	+	Splice_Site	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr22:27019317G>A	ENST00000354760.3	+	3	193		c.e3+1		CRYBA4_ENST00000466315.1_Intron	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4						camera-type eye development (GO:0043010)|visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TGAGTGGAGCGTGAGTCTAGG	0.597																																						ENST00000354760.3																			0				large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						c.e3+1		crystallin, beta A4							75.0	68.0	71.0					22																	27019317		2203	4300	6503	SO:0001630	splice_region_variant	1413				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens	g.chr22:27019317G>A		CCDS13841.1	22q12.1	2008-06-10			ENSG00000196431	ENSG00000196431			2396	protein-coding gene	gene with protein product		123631				8999933, 960806	Standard	NM_001886		Approved		uc003acz.4	P53673	OTTHUMG00000150983	ENST00000354760.3:c.158+1G>A	22.37:g.27019317G>A						CRYBA4_ENST00000466315.1_Intron		NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN			3	193	+								Q4VB22|Q6ICE4	Splice_Site	SNP	ENST00000354760.3	37		CCDS13841.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.158443	0.78114	.	.	ENSG00000196431	ENST00000354760	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6154	0.68544	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CRYBA4	25349317	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.548000	0.73896	2.309000	0.77851	0.650000	0.86243	.		0.597	CRYBA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320793.1	NM_001886	Intron	14	52	0	0	0	1	0	14	52				
IFT80	57560	broad.mit.edu	37	3	160099295	160099295	+	Silent	SNP	A	A	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:160099295A>G	ENST00000326448.7	-	3	687	c.255T>C	c.(253-255)tcT>tcC	p.S85S	RP11-432B6.3_ENST00000483754.1_Intron|IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000496589.1_5'UTR|IFT80_ENST00000477495.1_5'UTR	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	85					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACTTACCATCAGAACTTGTGA	0.323																																						ENST00000326448.7																			0				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36						c.(253-255)tcT>tcC		intraflagellar transport 80 homolog (Chlamydomonas)							65.0	65.0	65.0					3																	160099295		2203	4300	6503	SO:0001819	synonymous_variant	57560					cilium axoneme|microtubule basal body		g.chr3:160099295A>G	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.255T>C	3.37:g.160099295A>G						IFT80_ENST00000477495.1_5'UTR|IFT80_ENST00000483465.1_5'UTR|IFT80_ENST00000496589.1_5'UTR|RP11-432B6.3_ENST00000483754.1_Intron	p.S85S	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		3	687	-			85					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Silent	SNP	ENST00000326448.7	37	c.255T>C	CCDS3188.1																																																																																				0.323	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		23	148	0	0	0	1	0	23	148				
AGPAT4	56895	broad.mit.edu	37	6	161575173	161575173	+	Intron	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:161575173C>T	ENST00000320285.4	-	4	723				AGPAT4_ENST00000366906.5_Missense_Mutation_p.R111K|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366908.5_3'UTR	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4						CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.?(1)		endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		GCTCTGGTGCCTACATACAAA	0.582																																						ENST00000366906.5																			1	Unknown(1)	p.?(1)	lung(1)	endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(331-333)aGg>aAg		1-acylglycerol-3-phosphate O-acyltransferase 4							76.0	69.0	72.0					6																	161575173		2203	4300	6503	SO:0001627	intron_variant	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161575173C>T	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.510+7G>A	6.37:g.161575173C>T						AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000320285.4_Intron|AGPAT4_ENST00000366908.5_3'UTR|AGPAT4_ENST00000457520.2_Intron	p.R111K			Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	3	452	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	173					B4DSF9|Q5TEF0	Missense_Mutation	SNP	ENST00000320285.4	37	c.332G>A	CCDS5280.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.592654	0.28357	.	.	ENSG00000026652	ENST00000366906	.	.	.	3.35	-1.29	0.09288	.	.	.	.	.	T	0.20292	0.0488	.	.	.	0.34239	D	0.677465	B	0.10296	0.003	B	0.06405	0.002	T	0.04840	-1.0923	7	0.87932	D	0	.	5.5484	0.17078	0.0:0.2887:0.4869:0.2244	.	173	B4DHC0	.	K	111	.	ENSP00000355873:R111K	R	-	2	0	AGPAT4	161495163	.	.	0.000000	0.03702	0.003000	0.03518	.	.	-0.270000	0.09285	0.651000	0.88453	AGG		0.582	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133		24	24	0	0	0	1	0	24	24				
SLC9A3R1	9368	broad.mit.edu	37	17	72759610	72759610	+	Silent	SNP	C	C	T	rs387907536		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr17:72759610C>T	ENST00000262613.5	+	3	903	c.708C>T	c.(706-708)gaC>gaT	p.D236D	SLC9A3R1_ENST00000413388.2_Silent_p.D80D	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	236					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|bile acid secretion (GO:0032782)|cellular phosphate ion homeostasis (GO:0030643)|cellular protein localization (GO:0034613)|glutathione transport (GO:0034635)|microvillus assembly (GO:0030033)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sodium ion transport (GO:0010766)|negative regulation of sodium:proton antiporter activity (GO:0032416)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|protein complex assembly (GO:0006461)|regulation of excretion (GO:0044062)|regulation of protein kinase activity (GO:0045859)|regulation of sodium:proton antiporter activity (GO:0032415)|renal absorption (GO:0070293)|renal phosphate ion absorption (GO:0097291)|renal sodium ion transport (GO:0003096)|Wnt signaling pathway (GO:0016055)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell periphery (GO:0071944)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|membrane raft (GO:0045121)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle (GO:0031982)	beta-2 adrenergic receptor binding (GO:0031698)|beta-catenin binding (GO:0008013)|chloride channel regulator activity (GO:0017081)|growth factor receptor binding (GO:0070851)|PDZ domain binding (GO:0030165)|phosphatase binding (GO:0019902)|protein self-association (GO:0043621)|receptor binding (GO:0005102)			large_intestine(4)	4						GGGAAACTGACGAGTTCTTCA	0.622																																						ENST00000262613.5																			0				large_intestine(4)	4						c.(706-708)gaC>gaT		solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1							73.0	68.0	70.0					17																	72759610		2203	4300	6503	SO:0001819	synonymous_variant	9368				apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association	g.chr17:72759610C>T	AF015926	CCDS11705.1	17q25.1	2014-09-04	2012-03-22		ENSG00000109062	ENSG00000109062			11075	protein-coding gene	gene with protein product		604990	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 1"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 1"""			9314537, 9430655	Standard	NM_004252		Approved	NHERF, EBP50	uc002jlo.4	O14745	OTTHUMG00000178863	ENST00000262613.5:c.708C>T	17.37:g.72759610C>T						SLC9A3R1_ENST00000413388.2_Silent_p.D80D	p.D236D	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN			3	903	+			236					B3KY21|O43552|Q86WQ5	Silent	SNP	ENST00000262613.5	37	c.708C>T	CCDS11705.1																																																																																				0.622	SLC9A3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443671.1			5	13	0	0	0	1	0	5	13				
HEATR1	55127	broad.mit.edu	37	1	236735738	236735738	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:236735738A>G	ENST00000366582.3	-	26	3794	c.3680T>C	c.(3679-3681)gTg>gCg	p.V1227A	HEATR1_ENST00000366581.2_Missense_Mutation_p.V1146A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1227					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAGAGTTGGCACCAATATCTG	0.398																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(3679-3681)gTg>gCg		HEAT repeat containing 1							151.0	140.0	144.0					1																	236735738		2203	4300	6503	SO:0001583	missense	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236735738A>G	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.3680T>C	1.37:g.236735738A>G	ENSP00000355541:p.Val1227Ala					HEATR1_ENST00000366581.2_Missense_Mutation_p.V1146A	p.V1227A	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		26	3794	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	1227					Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	ENST00000366582.3	37	c.3680T>C	CCDS31066.1	.	.	.	.	.	.	.	.	.	.	A	17.20	3.327806	0.60743	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.66460	-0.21;-0.11	5.48	5.48	0.80851	Armadillo-like helical (1);Armadillo-type fold (1);	0.298399	0.36374	N	0.002633	T	0.60728	0.2291	L	0.49350	1.555	0.80722	D	1	B;P	0.35745	0.027;0.518	B;B	0.30716	0.01;0.119	T	0.65203	-0.6225	10	0.62326	D	0.03	.	15.5744	0.76365	1.0:0.0:0.0:0.0	.	1146;1227	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	A	1227;1146	ENSP00000355541:V1227A;ENSP00000355540:V1146A	ENSP00000355540:V1146A	V	-	2	0	HEATR1	234802361	1.000000	0.71417	0.359000	0.25824	0.910000	0.53928	8.939000	0.92951	2.086000	0.62901	0.533000	0.62120	GTG		0.398	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		9	144	0	0	0	1	0	9	144				
HAS1	3036	broad.mit.edu	37	19	52222476	52222476	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:52222476A>G	ENST00000222115.1	-	2	719	c.685T>C	c.(685-687)Tcg>Ccg	p.S229P	HAS1_ENST00000601714.1_Missense_Mutation_p.S236P|HAS1_ENST00000594621.1_Missense_Mutation_p.S83P|HAS1_ENST00000540069.2_Missense_Mutation_p.S228P	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	229					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TAGTCCACCGAATCTCCGAGC	0.607																																					NSCLC(132;636 2450 45807 47979)	ENST00000540069.2																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40						c.(682-684)Tcg>Ccg		hyaluronan synthase 1							45.0	39.0	41.0					19																	52222476		2199	4295	6494	SO:0001583	missense	3036				cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding	g.chr19:52222476A>G	U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.685T>C	19.37:g.52222476A>G	ENSP00000222115:p.Ser229Pro					HAS1_ENST00000222115.1_Missense_Mutation_p.S229P|HAS1_ENST00000601714.1_Missense_Mutation_p.S236P|HAS1_ENST00000594621.1_Missense_Mutation_p.S83P	p.S228P			Q92839	HAS1_HUMAN		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	2	742	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	229					Q14470|Q9NS49	Missense_Mutation	SNP	ENST00000222115.1	37	c.682T>C	CCDS12838.1	.	.	.	.	.	.	.	.	.	.	.	18.26	3.584151	0.65992	.	.	ENSG00000105509	ENST00000540069;ENST00000222115;ENST00000376737;ENST00000376738	T;T	0.60672	0.17;0.17	3.97	3.97	0.46021	.	0.000000	0.64402	D	0.000002	T	0.76673	0.4020	M	0.86953	2.85	0.51482	D	0.999922	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.995;0.995	T	0.80587	-0.1316	10	0.87932	D	0	-16.1244	11.1054	0.48199	1.0:0.0:0.0:0.0	.	228;229;228	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	P	228;229;83;83	ENSP00000445021:S228P;ENSP00000222115:S229P	ENSP00000222115:S229P	S	-	1	0	HAS1	56914288	0.761000	0.28439	1.000000	0.80357	0.851000	0.48451	1.649000	0.37281	1.573000	0.49748	0.346000	0.21813	TCG		0.607	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466953.1	NM_001523		9	65	0	0	0	1	0	9	65				
EP300	2033	broad.mit.edu	37	22	41568590	41568590	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr22:41568590G>A	ENST00000263253.7	+	28	5759	c.4540G>A	c.(4540-4542)Gaa>Aaa	p.E1514K	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1514	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAATGTTCTGGAAGAAAGCAT	0.398			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		0				NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(4540-4542)Gaa>Aaa		E1A binding protein p300							106.0	105.0	105.0					22																	41568590		2203	4300	6503	SO:0001583	missense	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41568590G>A	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4540G>A	22.37:g.41568590G>A	ENSP00000263253:p.Glu1514Lys					RP1-85F18.6_ENST00000415054.1_RNA	p.E1514K	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			28	5759	+			1514					B1AKC2	Missense_Mutation	SNP	ENST00000263253.7	37	c.4540G>A	CCDS14010.1	.	.	.	.	.	.	.	.	.	.	G	33	5.231000	0.95207	.	.	ENSG00000100393	ENST00000263253	D	0.94417	-3.42	5.96	5.96	0.96718	.	0.000000	0.49305	D	0.000149	D	0.97945	0.9324	M	0.89785	3.06	0.58432	D	0.999999	D	0.76494	0.999	D	0.83275	0.996	D	0.98128	1.0429	10	0.87932	D	0	-12.635	20.422	0.99049	0.0:0.0:1.0:0.0	.	1514	Q09472	EP300_HUMAN	K	1514	ENSP00000263253:E1514K	ENSP00000263253:E1514K	E	+	1	0	EP300	39898536	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.760000	0.98935	2.832000	0.97577	0.655000	0.94253	GAA		0.398	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		35	71	0	0	0	1	0	35	71				
APBA3	9546	broad.mit.edu	37	19	3759729	3759729	+	Silent	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:3759729C>T	ENST00000316757.3	-	2	734	c.534G>A	c.(532-534)acG>acA	p.T178T	MRPL54_ENST00000330133.4_5'Flank	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	178					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CTAGAGGCACCGTCTCCAGCC	0.647																																						ENST00000316757.3																			0				endometrium(1)|large_intestine(1)|skin(1)	3						c.(532-534)acG>acA		amyloid beta (A4) precursor protein-binding, family A, member 3							27.0	32.0	31.0					19																	3759729		2203	4298	6501	SO:0001819	synonymous_variant	9546				intracellular signal transduction|protein transport	intracellular|membrane	protein binding	g.chr19:3759729C>T	AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"""X11-like 2"""	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.534G>A	19.37:g.3759729C>T							p.T178T	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)	2	734	-		Hepatocellular(1079;0.137)	178					O60483|Q9UPZ2	Silent	SNP	ENST00000316757.3	37	c.534G>A	CCDS12110.1																																																																																				0.647	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453634.2			14	49	0	0	0	1	0	14	49				
STXBP5	134957	broad.mit.edu	37	6	147685192	147685192	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr6:147685192C>T	ENST00000321680.6	+	25	2971	c.2971C>T	c.(2971-2973)Cgg>Tgg	p.R991W	STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W|STXBP5_ENST00000367481.3_Missense_Mutation_p.R955W|STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	991					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)	p.R955W(1)|p.R991W(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		TACCAATATGCGGATAGCCAG	0.363																																						ENST00000367481.3																			2	Substitution - Missense(2)	p.R955W(1)|p.R991W(1)	kidney(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42						c.(2863-2865)Cgg>Tgg		syntaxin binding protein 5 (tomosyn)							189.0	181.0	184.0					6																	147685192		2203	4300	6503	SO:0001583	missense	134957				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding	g.chr6:147685192C>T	AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.2971C>T	6.37:g.147685192C>T	ENSP00000321826:p.Arg991Trp					STXBP5_ENST00000367480.3_Missense_Mutation_p.R938W|STXBP5_ENST00000321680.6_Missense_Mutation_p.R991W|STXBP5_ENST00000179882.6_Missense_Mutation_p.R646W	p.R955W	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)	23	2971	+		Ovarian(120;0.0164)	991					Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Missense_Mutation	SNP	ENST00000321680.6	37	c.2863C>T	CCDS47499.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.218984	0.79464	.	.	ENSG00000164506	ENST00000367481;ENST00000321680;ENST00000367480;ENST00000179882	T;T;T;T	0.26518	1.73;1.73;1.73;1.73	5.84	2.77	0.32553	Lethal giant larvae (Lgl)-like, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39784	0.1091	M	0.81682	2.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.43556	-0.9384	10	0.72032	D	0.01	.	11.1257	0.48317	0.2422:0.6922:0.0:0.0656	.	955;991;646	Q5T5C0-2;Q5T5C0;B3KXX0	.;STXB5_HUMAN;.	W	955;991;938;646	ENSP00000356451:R955W;ENSP00000321826:R991W;ENSP00000356450:R938W;ENSP00000179882:R646W	ENSP00000179882:R646W	R	+	1	2	STXBP5	147726885	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.045000	0.57368	0.793000	0.33875	-0.182000	0.12963	CGG		0.363	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042606.1			5	245	0	0	0	1	0	5	245				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	42	0	0	0	1	0	3	42				
MAP2K2	5605	broad.mit.edu	37	19	4117439	4117439	+	Missense_Mutation	SNP	G	G	A	rs202220799		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:4117439G>A	ENST00000262948.5	-	2	534	c.281C>T	c.(280-282)tCg>tTg	p.S94L	MAP2K2_ENST00000599345.1_5'UTR|MAP2K2_ENST00000394867.4_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	94	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|MAPK cascade (GO:0000165)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine autophosphorylation (GO:0036289)|positive regulation of cell motility (GO:2000147)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|scaffold protein binding (GO:0097110)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	Bosutinib(DB06616)|Trametinib(DB08911)	GATGAGGCCCGAGGGTCTGTG	0.632																																						ENST00000262948.5																			0											c.(280-282)tCg>tTg		mitogen-activated protein kinase kinase 2		G	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	42.0	38.0	40.0		281	4.7	0.1	19		40	1,8599	1.2+/-3.3	0,1,4299	no	missense	MAP2K2	NM_030662.3	145	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	possibly-damaging	94/401	4117439	3,13003	2203	4300	6503	SO:0001583	missense	5605				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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	cytosol|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:4117439G>A	L11285	CCDS12120.1	19p13.3	2014-09-17			ENSG00000126934	ENSG00000126934	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6842	protein-coding gene	gene with protein product		601263		PRKMK2		8388392	Standard	NM_030662		Approved	MEK2	uc002lzk.3	P36507	OTTHUMG00000134286	ENST00000262948.5:c.281C>T	19.37:g.4117439G>A	ENSP00000262948:p.Ser94Leu					MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR	p.S94L	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)	2	534	-		Hepatocellular(1079;0.137)	94			Protein kinase.			Missense_Mutation	SNP	ENST00000262948.5	37	c.281C>T	CCDS12120.1	.	.	.	.	.	.	.	.	.	.	g	25.0	4.593557	0.86953	4.54E-4	1.16E-4	ENSG00000126934	ENST00000262948	D	0.94457	-3.43	4.67	4.67	0.58626	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000003	D	0.94807	0.8323	L	0.39514	1.22	0.80722	D	1	D	0.69078	0.997	P	0.58266	0.836	D	0.95588	0.8652	10	0.87932	D	0	-11.5964	16.1587	0.81683	0.0:0.0:1.0:0.0	.	94	P36507	MP2K2_HUMAN	L	94	ENSP00000262948:S94L	ENSP00000262948:S94L	S	-	2	0	MAP2K2	4068439	1.000000	0.71417	0.124000	0.21820	0.725000	0.41563	9.636000	0.98440	2.139000	0.66308	0.555000	0.69702	TCG		0.632	MAP2K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258957.2			12	28	0	0	0	1	0	12	28				
CTNND1	1500	broad.mit.edu	37	11	57573390	57573390	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr11:57573390T>C	ENST00000399050.4	+	10	2295	c.1759T>C	c.(1759-1761)Tca>Cca	p.S587P	CTNND1_ENST00000526772.1_Missense_Mutation_p.S264P|CTNND1_ENST00000524630.1_Missense_Mutation_p.S587P|CTNND1_ENST00000527467.1_Missense_Mutation_p.S264P|CTNND1_ENST00000529919.1_Missense_Mutation_p.S587P|CTNND1_ENST00000525902.1_Missense_Mutation_p.S264P|CTNND1_ENST00000526938.1_Missense_Mutation_p.S587P|CTNND1_ENST00000426142.2_Missense_Mutation_p.S486P|CTNND1_ENST00000530748.1_Missense_Mutation_p.S533P|CTNND1_ENST00000360682.6_Missense_Mutation_p.S587P|CTNND1_ENST00000428599.2_Missense_Mutation_p.S587P|CTNND1_ENST00000358694.6_Missense_Mutation_p.S587P|CTNND1_ENST00000532844.1_Missense_Mutation_p.S533P|CTNND1_ENST00000529986.1_Missense_Mutation_p.S486P|CTNND1_ENST00000528232.1_Missense_Mutation_p.S486P|CTNND1_ENST00000533667.1_Missense_Mutation_p.S264P|CTNND1_ENST00000415361.2_Missense_Mutation_p.S486P|CTNND1_ENST00000361391.6_Missense_Mutation_p.S587P|CTNND1_ENST00000528621.1_Missense_Mutation_p.S533P|CTNND1_ENST00000532787.1_Missense_Mutation_p.S486P|CTNND1_ENST00000529873.1_Missense_Mutation_p.S533P|CTNND1_ENST00000361796.4_Missense_Mutation_p.S587P|CTNND1_ENST00000530094.1_Missense_Mutation_p.S486P|CTNND1_ENST00000532463.1_Missense_Mutation_p.S486P|CTNND1_ENST00000534579.1_Missense_Mutation_p.S533P|CTNND1_ENST00000532245.1_Missense_Mutation_p.S486P|CTNND1_ENST00000361332.4_Missense_Mutation_p.S587P|CTNND1_ENST00000531014.1_Missense_Mutation_p.S264P|CTNND1_ENST00000529526.1_Missense_Mutation_p.S533P|CTNND1_ENST00000399039.4_Missense_Mutation_p.S587P|CTNND1_ENST00000526357.1_Missense_Mutation_p.S533P|CTNND1_ENST00000532649.1_Missense_Mutation_p.S533P	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	587					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TCGGAACTTATCATATCAAGT	0.463																																						ENST00000524630.1																			0				breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45						c.(1759-1761)Tca>Cca		catenin (cadherin-associated protein), delta 1							84.0	79.0	81.0					11																	57573390		1912	4124	6036	SO:0001583	missense	1500				adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding	g.chr11:57573390T>C	AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.1759T>C	11.37:g.57573390T>C	ENSP00000382004:p.Ser587Pro					CTNND1_ENST00000532844.1_Missense_Mutation_p.S533P|CTNND1_ENST00000530094.1_Missense_Mutation_p.S486P|CTNND1_ENST00000529919.1_Missense_Mutation_p.S587P|CTNND1_ENST00000428599.2_Missense_Mutation_p.S587P|CTNND1_ENST00000534579.1_Missense_Mutation_p.S533P|CTNND1_ENST00000399050.4_Missense_Mutation_p.S587P|CTNND1_ENST00000526938.1_Missense_Mutation_p.S587P|CTNND1_ENST00000532787.1_Missense_Mutation_p.S486P|CTNND1_ENST00000528621.1_Missense_Mutation_p.S533P|CTNND1_ENST00000532649.1_Missense_Mutation_p.S533P|CTNND1_ENST00000426142.2_Missense_Mutation_p.S486P|CTNND1_ENST00000529986.1_Missense_Mutation_p.S486P|CTNND1_ENST00000527467.1_Missense_Mutation_p.S264P|CTNND1_ENST00000525902.1_Missense_Mutation_p.S264P|CTNND1_ENST00000532463.1_Missense_Mutation_p.S486P|CTNND1_ENST00000532245.1_Missense_Mutation_p.S486P|CTNND1_ENST00000531014.1_Missense_Mutation_p.S264P|CTNND1_ENST00000361796.4_Missense_Mutation_p.S587P|CTNND1_ENST00000399039.4_Missense_Mutation_p.S587P|CTNND1_ENST00000360682.6_Missense_Mutation_p.S587P|CTNND1_ENST00000358694.6_Missense_Mutation_p.S587P|CTNND1_ENST00000529526.1_Missense_Mutation_p.S533P|CTNND1_ENST00000528232.1_Missense_Mutation_p.S486P|CTNND1_ENST00000361391.6_Missense_Mutation_p.S587P|CTNND1_ENST00000529873.1_Missense_Mutation_p.S533P|CTNND1_ENST00000526357.1_Missense_Mutation_p.S533P|CTNND1_ENST00000530748.1_Missense_Mutation_p.S533P|CTNND1_ENST00000415361.2_Missense_Mutation_p.S486P|CTNND1_ENST00000361332.4_Missense_Mutation_p.S587P|CTNND1_ENST00000526772.1_Missense_Mutation_p.S264P|CTNND1_ENST00000533667.1_Missense_Mutation_p.S264P	p.S587P			O60716	CTND1_HUMAN			10	2272	+		all_epithelial(135;0.155)	587					A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	ENST00000399050.4	37	c.1759T>C	CCDS44604.1	.	.	.	.	.	.	.	.	.	.	T	32	5.177242	0.94846	.	.	ENSG00000198561	ENST00000524630;ENST00000529919;ENST00000399039;ENST00000360682;ENST00000361796;ENST00000529526;ENST00000426142;ENST00000399050;ENST00000361391;ENST00000361332;ENST00000532463;ENST00000529986;ENST00000358694;ENST00000532787;ENST00000533667;ENST00000532649;ENST00000528621;ENST00000530748;ENST00000428599;ENST00000527467;ENST00000528232;ENST00000531014;ENST00000526772;ENST00000529873;ENST00000525902;ENST00000532844;ENST00000526357;ENST00000530094;ENST00000415361;ENST00000532245;ENST00000534579;ENST00000526938	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76;-1.76	5.77	5.77	0.91146	Armadillo-like helical (1);Armadillo-type fold (1);	0.058640	0.64402	D	0.000001	D	0.92912	0.7745	M	0.92367	3.3	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.71674	0.996;0.996;0.994;0.993;0.993;0.993;0.998;0.996;0.994	P;D;P;P;P;P;D;D;P	0.71184	0.885;0.919;0.832;0.885;0.885;0.885;0.972;0.919;0.771	D	0.94469	0.7683	10	0.87932	D	0	-7.4954	15.7484	0.77965	0.0:0.0:0.0:1.0	.	587;587;587;486;533;533;587;587;587	O60716-3;O60716-2;O60716;O60716-18;O60716-14;O60716-10;O60716-5;F8WA43;C9JZR2	.;.;CTND1_HUMAN;.;.;.;.;.;.	P	587;587;587;587;587;533;486;587;587;587;486;486;587;486;264;533;533;533;587;264;486;264;264;533;264;533;533;486;486;486;533;587	ENSP00000436543:S587P;ENSP00000434808:S587P;ENSP00000381996:S587P;ENSP00000353902:S587P;ENSP00000354907:S587P;ENSP00000436323:S533P;ENSP00000409930:S486P;ENSP00000382004:S587P;ENSP00000354785:S587P;ENSP00000354823:S587P;ENSP00000432075:S486P;ENSP00000437156:S486P;ENSP00000351527:S587P;ENSP00000434949:S486P;ENSP00000437051:S264P;ENSP00000435379:S533P;ENSP00000432243:S533P;ENSP00000436744:S533P;ENSP00000413586:S587P;ENSP00000434900:S264P;ENSP00000435266:S486P;ENSP00000432623:S264P;ENSP00000433158:S264P;ENSP00000435494:S533P;ENSP00000434672:S264P;ENSP00000433276:S533P;ENSP00000433334:S533P;ENSP00000437327:S486P;ENSP00000403518:S486P;ENSP00000434017:S486P;ENSP00000435789:S533P;ENSP00000432041:S587P	ENSP00000351527:S587P	S	+	1	0	CTNND1	57329966	1.000000	0.71417	0.968000	0.41197	0.990000	0.78478	7.698000	0.84413	2.200000	0.70718	0.533000	0.62120	TCA		0.463	CTNND1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000393944.1	NM_001331		9	27	0	0	0	1	0	9	27				
DDR2	4921	broad.mit.edu	37	1	162729614	162729614	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:162729614G>A	ENST00000367922.3	+	9	1138	c.700G>A	c.(700-702)Gat>Aat	p.D234N	DDR2_ENST00000367921.3_Missense_Mutation_p.D234N	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	234					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	CCAATTGACCGATGGTGTGTC	0.542																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7						c.(700-702)Gat>Aat		discoidin domain receptor tyrosine kinase 2							106.0	92.0	97.0					1																	162729614		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162729614G>A	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.700G>A	1.37:g.162729614G>A	ENSP00000356899:p.Asp234Asn					DDR2_ENST00000367921.3_Missense_Mutation_p.D234N	p.D234N	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		9	1138	+	all_hematologic(112;0.115)		234					Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.700G>A	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	32	5.173200	0.94807	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	T;T	0.23950	1.88;1.88	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.54983	0.1892	M	0.89715	3.055	0.38270	D	0.942131	D	0.89917	1.0	D	0.85130	0.997	T	0.63849	-0.6544	9	0.87932	D	0	.	18.4633	0.90747	0.0:0.0:1.0:0.0	.	234	Q16832	DDR2_HUMAN	N	234	ENSP00000356899:D234N;ENSP00000356898:D234N	ENSP00000356898:D234N	D	+	1	0	DDR2	160996238	1.000000	0.71417	0.989000	0.46669	0.748000	0.42578	9.328000	0.96403	2.703000	0.92315	0.637000	0.83480	GAT		0.542	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		23	78	0	0	0	1	0	23	78				
CHD9	80205	broad.mit.edu	37	16	53358431	53358431	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr16:53358431C>T	ENST00000398510.3	+	38	8405	c.8318C>T	c.(8317-8319)tCt>tTt	p.S2773F	CHD9_ENST00000564845.1_Missense_Mutation_p.S2757F|CHD9_ENST00000566029.1_Missense_Mutation_p.S2757F|CHD9_ENST00000447540.1_Missense_Mutation_p.S2758F			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2773					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GTGTCAAGTTCTCCTTCCACA	0.423																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(8269-8271)tCt>tTt		chromodomain helicase DNA binding protein 9							51.0	51.0	51.0					16																	53358431		1923	4149	6072	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53358431C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8318C>T	16.37:g.53358431C>T	ENSP00000381522:p.Ser2773Phe					CHD9_ENST00000398510.3_Missense_Mutation_p.S2773F|CHD9_ENST00000447540.1_Missense_Mutation_p.S2758F|CHD9_ENST00000564845.1_Missense_Mutation_p.S2757F	p.S2757F			Q3L8U1	CHD9_HUMAN			39	8479	+		all_cancers(37;0.0212)	2773					B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.8270C>T		.	.	.	.	.	.	.	.	.	.	C	14.58	2.576423	0.45902	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.86562	-2.14	5.47	5.47	0.80525	.	0.000000	0.53938	D	0.000043	D	0.91683	0.7371	L	0.47716	1.5	0.58432	D	0.999996	D;D;D;D	0.67145	0.996;0.983;0.996;0.983	D;P;D;P	0.74023	0.982;0.804;0.982;0.804	D	0.91977	0.5591	10	0.72032	D	0.01	-6.8074	19.6972	0.96030	0.0:1.0:0.0:0.0	.	839;2758;2773;2757	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	F	2758;2757;839	ENSP00000396345:S2758F	ENSP00000381522:S2757F	S	+	2	0	CHD9	51915932	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.975000	0.76128	2.729000	0.93468	0.655000	0.94253	TCT		0.423	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		9	35	0	0	0	1	0	9	35				
MKRN3	7681	broad.mit.edu	37	15	23812077	23812077	+	Missense_Mutation	SNP	A	A	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr15:23812077A>G	ENST00000314520.3	+	1	1624	c.1148A>G	c.(1147-1149)gAg>gGg	p.E383G	MKRN3_ENST00000564592.1_Missense_Mutation_p.E143G|RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	383					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GAGGAGGAAGAGAAGCAGAAA	0.512																																						ENST00000314520.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(1147-1149)gAg>gGg		makorin ring finger protein 3							95.0	95.0	95.0					15																	23812077		2203	4300	6503	SO:0001583	missense	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23812077A>G	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.1148A>G	15.37:g.23812077A>G	ENSP00000313881:p.Glu383Gly					MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Missense_Mutation_p.E143G	p.E383G	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	1624	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	383						Missense_Mutation	SNP	ENST00000314520.3	37	c.1148A>G	CCDS10013.1	.	.	.	.	.	.	.	.	.	.	A	17.74	3.463327	0.63513	.	.	ENSG00000179455	ENST00000314520	T	0.39229	1.09	4.01	2.86	0.33363	.	0.057594	0.64402	D	0.000002	T	0.49474	0.1559	M	0.86268	2.805	0.58432	D	0.999996	D	0.54207	0.965	P	0.45913	0.497	T	0.56938	-0.7896	10	0.72032	D	0.01	.	9.178	0.37123	0.8164:0.1836:0.0:0.0	.	383	Q13064	MKRN3_HUMAN	G	383	ENSP00000313881:E383G	ENSP00000313881:E383G	E	+	2	0	MKRN3	21363170	1.000000	0.71417	0.921000	0.36526	0.845000	0.48019	6.664000	0.74437	0.862000	0.35528	0.533000	0.62120	GAG		0.512	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		25	67	0	0	0	1	0	25	67				
FTH1P3	2498	broad.mit.edu	37	5	17354576	17354576	+	lincRNA	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr5:17354576C>T	ENST00000511821.1	+	0	435				FTH1P10_ENST00000401830.3_RNA																							GTGGTGACTGCGCAGTGCTGG	0.711																																						ENST00000511821.1																			0																																																			2498							g.chr5:17354576C>T																													5.37:g.17354576C>T						FTH1P10_ENST00000401830.3_RNA								0	435	+									RNA	SNP	ENST00000511821.1	37																																																																																						0.711	CTD-2139B15.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000366261.1			5	9	0	0	0	1	0	5	9				
ITGA8	8516	broad.mit.edu	37	10	15760877	15760877	+	Silent	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr10:15760877C>T	ENST00000378076.3	-	2	584	c.231G>A	c.(229-231)gcG>gcA	p.A77A		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	77					brain development (GO:0007420)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|memory (GO:0007613)|mesodermal cell differentiation (GO:0048333)|metanephros development (GO:0001656)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|substrate adhesion-dependent cell spreading (GO:0034446)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|dendritic spine membrane (GO:0032591)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integrin alpha8-beta1 complex (GO:0034678)|integrin complex (GO:0008305)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	metal ion binding (GO:0046872)			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGGCTTTGGGCGCCCCCACCA	0.592																																						ENST00000378076.3																			0				NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						c.(229-231)gcG>gcA		integrin, alpha 8							87.0	77.0	81.0					10																	15760877		2203	4300	6503	SO:0001819	synonymous_variant	8516				cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	g.chr10:15760877C>T	L36531	CCDS31155.1	10p13	2010-03-23			ENSG00000077943	ENSG00000077943		"""Integrins"""	6144	protein-coding gene	gene with protein product		604063				7768999	Standard	XM_005252633		Approved		uc001ioc.1	P53708	OTTHUMG00000017733	ENST00000378076.3:c.231G>A	10.37:g.15760877C>T							p.A77A	NM_003638.1	NP_003629.1	P53708	ITA8_HUMAN			2	584	-			77					B0YJ31|Q5VX94	Silent	SNP	ENST00000378076.3	37	c.231G>A	CCDS31155.1																																																																																				0.592	ITGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046987.1	NM_003638		22	84	0	0	0	1	0	22	84				
ATP13A4	84239	broad.mit.edu	37	3	193120555	193120555	+	Silent	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:193120555T>C	ENST00000342695.4	-	30	3799	c.3477A>G	c.(3475-3477)gcA>gcG	p.A1159A	ATP13A4_ENST00000400270.2_Silent_p.A175A|ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Silent_p.A1140A	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1159						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TAGGGTCATTTGCCAAGTCCC	0.483																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(3475-3477)gcA>gcG		ATPase type 13A4							92.0	90.0	90.0					3																	193120555		2203	4300	6503	SO:0001819	synonymous_variant	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193120555T>C	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3477A>G	3.37:g.193120555T>C						ATP13A4_ENST00000392443.3_Silent_p.A1140A|ATP13A4_ENST00000400270.2_Silent_p.A175A|ATP13A4_ENST00000482964.1_5'UTR	p.A1159A	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	30	3799	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		1159					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Silent	SNP	ENST00000342695.4	37	c.3477A>G	CCDS3304.2																																																																																				0.483	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		33	138	0	0	0	1	0	33	138				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		5	196	0	0	0	1	0	5	196				
FSTL5	56884	broad.mit.edu	37	4	162841615	162841615	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr4:162841615G>A	ENST00000306100.5	-	4	786	c.350C>T	c.(349-351)gCt>gTt	p.A117V	FSTL5_ENST00000536695.1_Missense_Mutation_p.A116V|FSTL5_ENST00000427802.2_Missense_Mutation_p.A116V|FSTL5_ENST00000379164.4_Missense_Mutation_p.A116V	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	117	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGGCAAGCAGCTCTGTGCAC	0.418																																						ENST00000306100.5																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91						c.(349-351)gCt>gTt		follistatin-like 5							147.0	132.0	137.0					4																	162841615		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162841615G>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.350C>T	4.37:g.162841615G>A	ENSP00000305334:p.Ala117Val					FSTL5_ENST00000536695.1_Missense_Mutation_p.A116V|FSTL5_ENST00000379164.4_Missense_Mutation_p.A116V|FSTL5_ENST00000427802.2_Missense_Mutation_p.A116V	p.A117V	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	4	786	-	all_hematologic(180;0.24)		117			Kazal-like.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.350C>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	G	35	5.565986	0.96540	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.05025	3.51;3.51;3.51;3.51	5.86	5.86	0.93980	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.000000	0.85682	D	0.000000	T	0.23094	0.0558	M	0.86573	2.825	0.80722	D	1	P;P;P	0.48089	0.811;0.905;0.885	B;P;P	0.49887	0.386;0.625;0.589	T	0.00591	-1.1655	10	0.66056	D	0.02	.	19.5509	0.95319	0.0:0.0:1.0:0.0	.	116;116;117	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	V	117;116;116;116	ENSP00000305334:A117V;ENSP00000368462:A116V;ENSP00000389270:A116V;ENSP00000440409:A116V	ENSP00000305334:A117V	A	-	2	0	FSTL5	163061065	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	9.420000	0.97426	2.937000	0.99478	0.650000	0.86243	GCT		0.418	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		16	51	0	0	0	1	0	16	51				
LRP1B	53353	broad.mit.edu	37	2	141250225	141250225	+	Missense_Mutation	SNP	C	C	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:141250225C>G	ENST00000389484.3	-	57	10043	c.9072G>C	c.(9070-9072)gaG>gaC	p.E3024D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3024					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTTTCCTTATCTCATGATGAT	0.348										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(9070-9072)gaG>gaC		low density lipoprotein receptor-related protein 1B							208.0	183.0	192.0					2																	141250225		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141250225C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9072G>C	2.37:g.141250225C>G	ENSP00000374135:p.Glu3024Asp	TSP Lung(27;0.18)					p.E3024D	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	57	10043	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3024					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9072G>C	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550847	0.27739	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.91068	-2.78	5.11	-0.902	0.10537	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.82715	0.5097	N	0.13003	0.285	0.37304	D	0.908813	D	0.61697	0.99	P	0.51615	0.675	T	0.78481	-0.2187	10	0.12103	T	0.63	.	10.2293	0.43245	0.0:0.3034:0.0:0.6966	.	3024	Q9NZR2	LRP1B_HUMAN	D	3024;2962	ENSP00000374135:E3024D	ENSP00000374135:E3024D	E	-	3	2	LRP1B	140966695	0.857000	0.29778	0.997000	0.53966	0.992000	0.81027	-0.057000	0.11768	-0.083000	0.12618	0.460000	0.39030	GAG		0.348	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		51	113	0	0	0	1	0	51	113				
CSMD2	114784	broad.mit.edu	37	1	34011718	34011718	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:34011718C>A	ENST00000373381.4	-	57	9195	c.9019G>T	c.(9019-9021)Gct>Tct	p.A3007S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2980	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ACGTGGCCAGCTTCACAGCTG	0.602																																						ENST00000373381.4																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(9019-9021)Gct>Tct		CUB and Sushi multiple domains 2							77.0	68.0	71.0					1																	34011718		2203	4300	6503	SO:0001583	missense	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34011718C>A	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.9019G>T	1.37:g.34011718C>A	ENSP00000362479:p.Ala3007Ser						p.A3007S	NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN			57	9195	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	2980			Sushi 22.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	ENST00000373381.4	37	c.9019G>T		.	.	.	.	.	.	.	.	.	.	C	17.70	3.454806	0.63290	.	.	ENSG00000121904	ENST00000373381	T	0.64085	-0.08	4.97	3.01	0.34805	Complement control module (2);Sushi/SCR/CCP (3);	0.061189	0.64402	D	0.000003	T	0.46092	0.1375	N	0.16307	0.4	0.80722	D	1	B;B	0.30741	0.233;0.293	B;B	0.42625	0.3;0.393	T	0.23440	-1.0188	10	0.08179	T	0.78	.	7.4994	0.27509	0.0:0.5912:0.3095:0.0992	.	2863;3007	Q7Z408;E7EUA6	CSMD2_HUMAN;.	S	3007	ENSP00000362479:A3007S	ENSP00000241312:A2863S	A	-	1	0	CSMD2	33784305	1.000000	0.71417	0.985000	0.45067	0.961000	0.63080	4.650000	0.61440	1.331000	0.45412	0.650000	0.86243	GCT		0.602	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_052896		8	59	1	0	1.06961e-07	1	1.08686e-07	8	59				
CNGA4	1262	broad.mit.edu	37	11	6261426	6261426	+	Silent	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr11:6261426G>A	ENST00000379936.2	+	4	517	c.402G>A	c.(400-402)ccG>ccA	p.P134P	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	134					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTGGGCCCGCACACACCCA	0.617																																						ENST00000379936.2																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40						c.(400-402)ccG>ccA		cyclic nucleotide gated channel alpha 4							108.0	111.0	110.0					11																	6261426		2201	4296	6497	SO:0001819	synonymous_variant	1262				response to stimulus|sensory perception of smell		cAMP binding	g.chr11:6261426G>A	AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.402G>A	11.37:g.6261426G>A						CNGA4_ENST00000533426.1_Intron	p.P134P	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)	4	517	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	134						Silent	SNP	ENST00000379936.2	37	c.402G>A	CCDS31408.1																																																																																				0.617	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383765.2	NM_001037329		5	192	0	0	0	1	0	5	192				
NAF1	92345	broad.mit.edu	37	4	164087806	164087806	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr4:164087806T>C	ENST00000274054.2	-	1	267	c.74A>G	c.(73-75)gAa>gGa	p.E25G	NAF1_ENST00000422287.2_Missense_Mutation_p.E25G	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	25					pseudouridine synthesis (GO:0001522)|ribosome biogenesis (GO:0042254)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				CGCCGGACCTTCCCCAACTCC	0.672																																						ENST00000274054.2																			0				NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21						c.(73-75)gAa>gGa		nuclear assembly factor 1 ribonucleoprotein							16.0	21.0	19.0					4																	164087806		2102	4259	6361	SO:0001583	missense	92345				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding	g.chr4:164087806T>C		CCDS3803.1, CCDS47159.1	4q32.2	2013-03-05	2013-03-05			ENSG00000145414			25126	protein-coding gene	gene with protein product			"""nuclear assembly factor 1 homolog (S. cerevisiae)"""			16618814, 16601202	Standard	NM_138386		Approved		uc003iqj.3	Q96HR8		ENST00000274054.2:c.74A>G	4.37:g.164087806T>C	ENSP00000274054:p.Glu25Gly					NAF1_ENST00000422287.2_Missense_Mutation_p.E25G	p.E25G	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN			1	267	-	all_hematologic(180;0.166)	Prostate(90;0.109)	25					D3DP28|E9PAZ2	Missense_Mutation	SNP	ENST00000274054.2	37	c.74A>G	CCDS3803.1	.	.	.	.	.	.	.	.	.	.	T	12.25	1.881487	0.33255	.	.	ENSG00000145414	ENST00000422287;ENST00000274054	T;T	0.35421	1.31;1.33	3.35	-0.735	0.11137	.	2.925340	0.01175	N	0.006948	T	0.21509	0.0518	N	0.14661	0.345	0.09310	N	1	B;B	0.25105	0.118;0.035	B;B	0.17098	0.017;0.012	T	0.15694	-1.0428	10	0.46703	T	0.11	0.2704	4.0176	0.09650	0.0:0.1341:0.4436:0.4223	.	25;25	E9PAZ2;Q96HR8	.;NAF1_HUMAN	G	25	ENSP00000408963:E25G;ENSP00000274054:E25G	ENSP00000274054:E25G	E	-	2	0	NAF1	164307256	0.013000	0.17824	0.000000	0.03702	0.021000	0.10359	1.200000	0.32247	-0.104000	0.12154	0.254000	0.18369	GAA		0.672	NAF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364684.2	NM_138386		8	27	0	0	0	1	0	8	27				
ZC3H12A	80149	broad.mit.edu	37	1	37941403	37941403	+	Silent	SNP	C	C	G			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:37941403C>G	ENST00000373087.6	+	2	422	c.306C>G	c.(304-306)ccC>ccG	p.P102P	RP11-422J8.1_ENST00000424989.1_RNA	NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CACCGGACCCCTGCCCTCAGC	0.662																																						ENST00000373087.6																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(304-306)ccC>ccG		zinc finger CCCH-type containing 12A							30.0	31.0	31.0					1																	37941403		2202	4299	6501	SO:0001819	synonymous_variant	80149				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding	g.chr1:37941403C>G		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.306C>G	1.37:g.37941403C>G							p.P102P	NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN			2	422	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	102						Silent	SNP	ENST00000373087.6	37	c.306C>G	CCDS417.1																																																																																				0.662	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012154.2	NM_025079		7	28	0	0	0	1	0	7	28				
ZNF135	7694	broad.mit.edu	37	19	58579749	58579749	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:58579749C>A	ENST00000313434.5	+	5	1998	c.1897C>A	c.(1897-1899)Cca>Aca	p.P633T	ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000506786.1_Missense_Mutation_p.P591T|ZNF135_ENST00000439855.2_Missense_Mutation_p.P633T|RN7SL526P_ENST00000469492.2_RNA|ZNF135_ENST00000401053.4_Missense_Mutation_p.P657T|ZNF135_ENST00000511556.1_Missense_Mutation_p.P645T	NM_003436.3	NP_003427.3	P52742	ZN135_HUMAN	zinc finger protein 135	633					cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		AGGAGAGAAGCCATATGCATG	0.547																																						ENST00000506786.1																			0				breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41						c.(1771-1773)Cca>Aca		zinc finger protein 135							92.0	83.0	86.0					19																	58579749		2203	4300	6503	SO:0001583	missense	7694				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58579749C>A	U09413	CCDS12970.1, CCDS12970.2, CCDS54329.1, CCDS54330.1, CCDS74471.1, CCDS74472.1	19q13.4	2013-01-08	2006-05-12			ENSG00000176293		"""Zinc fingers, C2H2-type"", ""-"""	12919	protein-coding gene	gene with protein product		604077	"""zinc finger protein 61"", ""zinc finger protein 135 (clone pHZ-17)"""	ZNF61, ZNF78L1		7557990, 1505991	Standard	NM_003436		Approved	pHZ-17	uc002qrg.3	P52742		ENST00000313434.5:c.1897C>A	19.37:g.58579749C>A	ENSP00000321406:p.Pro633Thr					ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000439855.2_Missense_Mutation_p.P633T|ZNF135_ENST00000511556.1_Missense_Mutation_p.P645T|ZNF135_ENST00000313434.5_Missense_Mutation_p.P633T|ZNF135_ENST00000401053.4_Missense_Mutation_p.P657T	p.P591T			B4DHH9	B4DHH9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)	5	2325	+		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)	645					B4DHH9|E9PEV2|F5GYY9|I3L0B3|Q5U5L3|Q8N1I7	Missense_Mutation	SNP	ENST00000313434.5	37	c.1771C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.89|11.89	1.775147|1.775147	0.31411|0.31411	.|.	.|.	ENSG00000176293|ENSG00000176293	ENST00000401053;ENST00000439855;ENST00000313434;ENST00000511556;ENST00000506786|ENST00000391699	T;T;T;T;T|.	0.16897|.	2.31;2.31;2.31;2.31;2.31|.	3.37|3.37	2.32|2.32	0.28847|0.28847	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.53158|0.53158	0.1779|0.1779	L|L	0.53249|0.53249	1.67|1.67	0.32356|0.32356	N|N	0.557791|0.557791	D;D|.	0.89917|.	0.998;1.0|.	D;D|.	0.97110|.	0.974;1.0|.	T|T	0.59799|0.59799	-0.7386|-0.7386	9|5	0.72032|.	D|.	0.01|.	.|.	9.7299|9.7299	0.40355|0.40355	0.0:0.8921:0.0:0.1079|0.0:0.8921:0.0:0.1079	.|.	645;633|.	E9PEV2;P52742|.	.;ZN135_HUMAN|.	T|R	657;633;633;645;591|650	ENSP00000441410:P657T;ENSP00000444828:P633T;ENSP00000321406:P633T;ENSP00000422074:P645T;ENSP00000427691:P591T|.	ENSP00000321406:P633T|.	P|S	+|+	1|3	0|2	ZNF135|ZNF135	63271561|63271561	0.326000|0.326000	0.24669|0.24669	0.788000|0.788000	0.31933|0.31933	0.040000|0.040000	0.13550|0.13550	2.278000|2.278000	0.43426|0.43426	0.765000|0.765000	0.33221|0.33221	-0.259000|-0.259000	0.10710|0.10710	CCA|AGC		0.547	ZNF135-003	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000361899.2	NM_003436		10	103	1	0	4.68919e-08	1	4.80356e-08	10	103				
MKI67	4288	broad.mit.edu	37	10	129905282	129905282	+	Missense_Mutation	SNP	C	C	T	rs199755571		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr10:129905282C>T	ENST00000368654.3	-	13	5197	c.4822G>A	c.(4822-4824)Gat>Aat	p.D1608N	MKI67_ENST00000368653.3_Missense_Mutation_p.D1248N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1608	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCAGTTTTATCGTTAGTCATT	0.502																																						ENST00000368654.3																			0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(4822-4824)Gat>Aat		marker of proliferation Ki-67							191.0	185.0	187.0					10																	129905282		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129905282C>T	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.4822G>A	10.37:g.129905282C>T	ENSP00000357643:p.Asp1608Asn					MKI67_ENST00000368653.3_Missense_Mutation_p.D1248N	p.D1608N	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN			13	5197	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1608			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.4822G>A	CCDS7659.1	.	.	.	.	.	.	.	.	.	.	C	6.442	0.449733	0.12223	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.01359	5.05;4.98	2.87	0.848	0.18966	.	3.503140	0.00894	N	0.002262	T	0.02193	0.0068	L	0.54323	1.7	0.09310	N	1	D;D;B	0.54397	0.966;0.964;0.32	B;B;B	0.40066	0.318;0.315;0.016	T	0.53422	-0.8441	10	0.20046	T	0.44	.	8.6171	0.33838	0.0:0.5311:0.4689:0.0	.	1607;1248;1608	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	N	1608;1248;1607	ENSP00000357643:D1608N;ENSP00000357642:D1248N	ENSP00000357642:D1248N	D	-	1	0	MKI67	129795272	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.528000	0.06193	0.242000	0.21303	0.563000	0.77884	GAT		0.502	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	NM_002417		31	188	0	0	0	1	0	31	188				
LHCGR	3973	broad.mit.edu	37	2	48914844	48914844	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:48914844C>T	ENST00000294954.7	-	11	2113	c.2092G>A	c.(2092-2094)Gag>Aag	p.E698K	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.E671K|LHCGR_ENST00000344775.3_Missense_Mutation_p.E636K|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000403273.1_3'UTR	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	698					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGTTAACACTCTGTGTAGCGA	0.368																																						ENST00000294954.7																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56						c.(2092-2094)Gag>Aag		luteinizing hormone/choriogonadotropin receptor	Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)						98.0	92.0	94.0					2																	48914844		2203	4300	6503	SO:0001583	missense	3973				male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity	g.chr2:48914844C>T		CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.2092G>A	2.37:g.48914844C>T	ENSP00000294954:p.Glu698Lys					LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.E636K|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.E671K|LHCGR_ENST00000403273.1_3'UTR	p.E698K	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		11	2113	-		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	698					Q14751|Q15996|Q9UEW9	Missense_Mutation	SNP	ENST00000294954.7	37	c.2092G>A	CCDS1842.1	.	.	.	.	.	.	.	.	.	.	C	4.956	0.177576	0.09443	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	T;T;T	0.76316	-1.01;-0.84;-0.91	5.21	0.117	0.14652	.	1.008340	0.07977	N	0.984890	T	0.58250	0.2109	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.35475	-0.9787	9	.	.	.	.	1.4464	0.02365	0.1387:0.4205:0.1349:0.306	.	698	P22888	LSHR_HUMAN	K	636;698;671	ENSP00000344301:E636K;ENSP00000294954:E698K;ENSP00000386033:E671K	.	E	-	1	0	LHCGR	48768348	0.000000	0.05858	0.006000	0.13384	0.181000	0.23173	-0.140000	0.10342	-0.158000	0.11040	0.585000	0.79938	GAG		0.368	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251364.4	NM_000233.3		23	88	0	0	0	1	0	23	88				
ZBTB38	253461	broad.mit.edu	37	3	141164305	141164305	+	Silent	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr3:141164305C>T	ENST00000514251.1	+	4	3354	c.3075C>T	c.(3073-3075)ctC>ctT	p.L1025L	ZBTB38_ENST00000321464.5_Silent_p.L1026L|ZBTB38_ENST00000441582.2_Silent_p.L1025L					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						CTTCCACACTCAAAATGCACA	0.552																																						ENST00000514251.1																			0				breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						c.(3073-3075)ctC>ctT		zinc finger and BTB domain containing 38							48.0	49.0	49.0					3																	141164305		2033	4190	6223	SO:0001819	synonymous_variant	253461				positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:141164305C>T	BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.3075C>T	3.37:g.141164305C>T						ZBTB38_ENST00000441582.2_Silent_p.L1025L|ZBTB38_ENST00000321464.5_Silent_p.L1026L	p.L1025L			Q8NAP3	ZBT38_HUMAN			4	3354	+			1025						Silent	SNP	ENST00000514251.1	37	c.3075C>T	CCDS43157.1																																																																																				0.552	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359329.2			7	85	0	0	0	1	0	7	85				
ZC4H2	55906	broad.mit.edu	37	X	64141701	64141701	+	Missense_Mutation	SNP	T	T	C			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chrX:64141701T>C	ENST00000374839.3	-	2	327	c.221A>G	c.(220-222)aAt>aGt	p.N74S	ZC4H2_ENST00000447788.2_Missense_Mutation_p.N74S|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000545618.1_Missense_Mutation_p.N69S|ZC4H2_ENST00000337990.2_Missense_Mutation_p.N51S	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	74					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACGTACCACATTGATGTCAGC	0.517																																						ENST00000545618.1																			0				endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(205-207)aAt>aGt		zinc finger, C4H2 domain containing							150.0	89.0	110.0					X																	64141701		2203	4300	6503	SO:0001583	missense	55906						metal ion binding|protein binding	g.chrX:64141701T>C	AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.221A>G	X.37:g.64141701T>C	ENSP00000363972:p.Asn74Ser					ZC4H2_ENST00000374839.3_Missense_Mutation_p.N74S|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000447788.2_Missense_Mutation_p.N74S|ZC4H2_ENST00000337990.2_Missense_Mutation_p.N51S	p.N69S			Q9NQZ6	ZC4H2_HUMAN			3	769	-			74					B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Missense_Mutation	SNP	ENST00000374839.3	37	c.206A>G	CCDS14380.1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.492569	0.84962	.	.	ENSG00000126970	ENST00000447788;ENST00000545618;ENST00000374839;ENST00000337990	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	L	0.46157	1.445	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.77004	0.989;0.983	T	0.72151	-0.4377	9	0.87932	D	0	.	12.9531	0.58411	0.0:0.0:0.0:1.0	.	74;74	B4DED0;Q9NQZ6	.;ZC4H2_HUMAN	S	74;69;74;51	.	ENSP00000338650:N51S	N	-	2	0	ZC4H2	64058426	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.769000	0.85360	2.036000	0.60181	0.486000	0.48141	AAT		0.517	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056958.1	NM_018684		5	27	0	0	0	1	0	5	27				
ALPK1	80216	broad.mit.edu	37	4	113359744	113359744	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr4:113359744G>A	ENST00000458497.1	+	13	3572	c.3293G>A	c.(3292-3294)aGa>aAa	p.R1098K	ALPK1_ENST00000504176.2_Missense_Mutation_p.R1020K|ALPK1_ENST00000177648.9_Missense_Mutation_p.R1098K	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1098	Alpha-type protein kinase. {ECO:0000255|PROSITE-ProRule:PRU00501}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTTAACAAGAGACTCTATGAA	0.438																																						ENST00000458497.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53						c.(3292-3294)aGa>aAa		alpha-kinase 1							196.0	182.0	187.0					4																	113359744		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113359744G>A	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.3293G>A	4.37:g.113359744G>A	ENSP00000398048:p.Arg1098Lys					ALPK1_ENST00000177648.9_Missense_Mutation_p.R1098K|ALPK1_ENST00000504176.2_Missense_Mutation_p.R1020K	p.R1098K	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	13	3572	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	1098			Alpha-type protein kinase.		B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.3293G>A	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151139	0.57151	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.12569	2.67;2.67;2.67	5.37	3.63	0.41609	MHCK/EF2 kinase (3);Protein kinase-like domain (1);	0.273237	0.41294	N	0.000919	T	0.10165	0.0249	L	0.28556	0.865	0.30538	N	0.766758	B;B;B	0.26935	0.11;0.164;0.134	B;B;B	0.25884	0.018;0.064;0.031	T	0.08743	-1.0707	10	0.30854	T	0.27	-20.7142	11.0516	0.47894	0.1497:0.0:0.8503:0.0	.	1020;1020;1098	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	K	1098;1098;1020	ENSP00000398048:R1098K;ENSP00000177648:R1098K;ENSP00000426044:R1020K	ENSP00000177648:R1098K	R	+	2	0	ALPK1	113579193	0.999000	0.42202	1.000000	0.80357	0.832000	0.47134	2.629000	0.46485	1.270000	0.44297	0.455000	0.32223	AGA		0.438	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		25	99	0	0	0	1	0	25	99				
EEA1	8411	broad.mit.edu	37	12	93175725	93175725	+	Splice_Site	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr12:93175725C>T	ENST00000322349.8	-	23	3601		c.e23+1			NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1						early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|synaptic vesicle to endosome fusion (GO:0016189)|vesicle fusion (GO:0006906)	axonal spine (GO:0044308)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|membrane (GO:0016020)|recycling endosome (GO:0055037)|serine-pyruvate aminotransferase complex (GO:0005969)	1-phosphatidylinositol binding (GO:0005545)|calmodulin binding (GO:0005516)|GTP-dependent protein binding (GO:0030742)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						ACATGCAATACCTTTTCTTTC	0.388																																						ENST00000322349.8																			0				endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						c.e23+1		early endosome antigen 1							222.0	203.0	209.0					12																	93175725		2203	4300	6503	SO:0001630	splice_region_variant	8411				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding	g.chr12:93175725C>T	L40157	CCDS31874.1	12q22	2007-02-23	2007-02-23			ENSG00000102189		"""Zinc fingers, FYVE domain containing"""	3185	protein-coding gene	gene with protein product		605070	"""early endosome antigen 1, 162kD"""			7768953, 9697774	Standard	NM_003566		Approved	ZFYVE2	uc001tck.3	Q15075	OTTHUMG00000170110	ENST00000322349.8:c.3336+1G>A	12.37:g.93175725C>T								NM_003566.3	NP_003557.2	Q15075	EEA1_HUMAN			23	3601	-								Q14221	Splice_Site	SNP	ENST00000322349.8	37		CCDS31874.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328316	0.81690	.	.	ENSG00000102189	ENST00000322349	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0376	0.92985	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EEA1	91699856	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.113000	0.77095	2.473000	0.83533	0.650000	0.86243	.		0.388	EEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407304.1	NM_003566	Intron	60	100	0	0	0	1	0	60	100				
CD1D	912	broad.mit.edu	37	1	158152778	158152778	+	Missense_Mutation	SNP	C	C	T	rs139209490		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr1:158152778C>T	ENST00000368171.3	+	5	1217	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	240	Ig-like.				antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAAGTGGATGCGGGGTGAGCA	0.632													C|||	1	0.000199681	0.0	0.0	5008	,	,		18495	0.001		0.0	False		,,,				2504	0.0					ENST00000368171.3																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.(718-720)Cgg>Tgg		CD1d molecule							118.0	109.0	112.0					1																	158152778		2203	4300	6503	SO:0001583	missense	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158152778C>T	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.718C>T	1.37:g.158152778C>T	ENSP00000357153:p.Arg240Trp						p.R240W	NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN			5	1217	+	all_hematologic(112;0.0378)		240			Ig-like.		D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Missense_Mutation	SNP	ENST00000368171.3	37	c.718C>T	CCDS1173.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	18.04	3.533843	0.64972	.	.	ENSG00000158473	ENST00000368171	T	0.03181	4.02	4.66	1.35	0.21983	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.000000	0.45126	D	0.000384	T	0.13372	0.0324	M	0.93854	3.465	0.38373	D	0.944914	D	0.89917	1.0	D	0.85130	0.997	T	0.03112	-1.1071	10	0.87932	D	0	-38.3574	9.818	0.40865	0.5475:0.4525:0.0:0.0	.	240	P15813	CD1D_HUMAN	W	240	ENSP00000357153:R240W	ENSP00000357153:R240W	R	+	1	2	CD1D	156419402	0.412000	0.25392	0.999000	0.59377	0.966000	0.64601	0.094000	0.15107	0.614000	0.30107	0.655000	0.94253	CGG		0.632	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766		4	170	0	0	0	1	0	4	170				
FAM86A	196483	broad.mit.edu	37	16	5135725	5135725	+	Missense_Mutation	SNP	C	C	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr16:5135725C>T	ENST00000427587.4	-	8	969	c.901G>A	c.(901-903)Ggg>Agg	p.G301R	FAM86A_ENST00000587133.1_Missense_Mutation_p.G240R|ALG1_ENST00000592661.1_Intron|FAM86A_ENST00000458008.4_Missense_Mutation_p.G267R	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN	family with sequence similarity 86, member A	301						cytoplasm (GO:0005737)				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CATCTGATCCCGGCCCGGCCT	0.562																																						ENST00000427587.4																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						c.(901-903)Ggg>Agg		family with sequence similarity 86, member A							115.0	106.0	109.0					16																	5135725		2197	4300	6497	SO:0001583	missense	196483							g.chr16:5135725C>T	BC010084	CCDS10529.1, CCDS10530.1, CCDS73823.1	16p13.3	2012-11-07			ENSG00000118894	ENSG00000118894			32221	protein-coding gene	gene with protein product		615263					Standard	NM_201400		Approved	SB153, MGC19636	uc002cyo.2	Q96G04	OTTHUMG00000129527	ENST00000427587.4:c.901G>A	16.37:g.5135725C>T	ENSP00000398502:p.Gly301Arg					FAM86A_ENST00000458008.4_Missense_Mutation_p.G267R|FAM86A_ENST00000587133.1_Missense_Mutation_p.G240R|ALG1_ENST00000592661.1_Intron	p.G301R	NM_201400.2	NP_958802.1	Q96G04	FA86A_HUMAN			8	969	-			301					D3DUF0|Q96S85	Missense_Mutation	SNP	ENST00000427587.4	37	c.901G>A	CCDS10529.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968842	0.34754	.	.	ENSG00000118894	ENST00000458008;ENST00000427587	T;T	0.32023	1.47;1.47	4.36	2.41	0.29592	.	1.680010	0.03534	U	0.222902	T	0.27278	0.0669	L	0.36672	1.1	0.30917	N	0.728407	P;B	0.35700	0.516;0.157	B;B	0.34138	0.176;0.067	T	0.29212	-1.0019	10	0.49607	T	0.09	.	7.6181	0.28169	0.0:0.801:0.0:0.199	.	267;301	Q96G04-2;Q96G04	.;FA86A_HUMAN	R	267;301	ENSP00000389710:G267R;ENSP00000398502:G301R	ENSP00000398502:G301R	G	-	1	0	FAM86A	5075726	0.884000	0.30299	0.088000	0.20740	0.153000	0.21895	1.539000	0.36104	0.595000	0.29777	0.484000	0.47621	GGG		0.562	FAM86A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251713.1	NM_201400		5	175	0	0	0	1	0	5	175				
CTNNA3	29119	broad.mit.edu	37	10	68040264	68040264	+	Silent	SNP	T	T	C	rs182490263		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr10:68040264T>C	ENST00000433211.2	-	13	2022	c.1848A>G	c.(1846-1848)acA>acG	p.T616T	CTNNA3_ENST00000373744.4_Silent_p.T616T	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.T616T(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						TATCATGAATTGTATCATAGA	0.368																																						ENST00000433211.1																			2	Substitution - coding silent(2)	p.T616T(2)	lung(2)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(1846-1848)acA>acG		catenin (cadherin-associated protein), alpha 3							172.0	166.0	168.0					10																	68040264		2203	4300	6503	SO:0001819	synonymous_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68040264T>C	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1848A>G	10.37:g.68040264T>C						CTNNA3_ENST00000373744.4_Silent_p.T616T	p.T616T	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			13	2022	-			616						Silent	SNP	ENST00000433211.2	37	c.1848A>G	CCDS7269.1																																																																																				0.368	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		35	81	0	0	0	1	0	35	81				
RNF133	168433	broad.mit.edu	37	7	122338834	122338834	+	Missense_Mutation	SNP	G	G	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr7:122338834G>A	ENST00000340112.2	-	1	376	c.139C>T	c.(139-141)Cat>Tat	p.H47Y	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	47					protein autoubiquitination (GO:0051865)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TTCCCAACATGAAATGATATG	0.448																																					Colon(198;1778 2057 7449 19869 45985)	ENST00000340112.2																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						c.(139-141)Cat>Tat		ring finger protein 133							114.0	110.0	112.0					7																	122338834		2203	4300	6503	SO:0001583	missense	168433					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	g.chr7:122338834G>A	AF447589	CCDS5784.1	7q31.33	2013-01-09			ENSG00000188050	ENSG00000188050		"""RING-type (C3HC4) zinc fingers"""	21154	protein-coding gene	gene with protein product							Standard	NM_139175		Approved		uc003vkj.1	Q8WVZ7	OTTHUMG00000157092	ENST00000340112.2:c.139C>T	7.37:g.122338834G>A	ENSP00000344489:p.His47Tyr					CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	p.H47Y	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN			1	376	-			47					A4D0W2|Q8N7G7	Missense_Mutation	SNP	ENST00000340112.2	37	c.139C>T	CCDS5784.1	.	.	.	.	.	.	.	.	.	.	G	0.980	-0.697450	0.03279	.	.	ENSG00000188050	ENST00000340112	T	0.14516	2.5	5.86	5.86	0.93980	.	0.563703	0.15687	U	0.249628	T	0.12518	0.0304	L	0.34521	1.04	0.80722	D	1	B	0.14012	0.009	B	0.08055	0.003	T	0.09058	-1.0692	10	0.30854	T	0.27	.	14.0154	0.64521	0.0728:0.0:0.9272:0.0	.	47	Q8WVZ7	RN133_HUMAN	Y	47	ENSP00000344489:H47Y	ENSP00000344489:H47Y	H	-	1	0	RNF133	122126070	0.996000	0.38824	0.992000	0.48379	0.925000	0.55904	3.599000	0.54045	2.777000	0.95525	0.655000	0.94253	CAT		0.448	RNF133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347413.1	NM_139175		14	141	0	0	0	1	0	14	141				
ITGA4	3676	broad.mit.edu	37	2	182374442	182374442	+	Missense_Mutation	SNP	C	C	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr2:182374442C>A	ENST00000397033.2	+	16	2183	c.1753C>A	c.(1753-1755)Cct>Act	p.P585T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	585					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	CCACCTTGGTCCTCATGTCAT	0.398																																						ENST00000397033.2																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						c.(1753-1755)Cct>Act		integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	Natalizumab(DB00108)						126.0	112.0	117.0					2																	182374442		1873	4105	5978	SO:0001583	missense	3676				blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	g.chr2:182374442C>A		CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.1753C>A	2.37:g.182374442C>A	ENSP00000380227:p.Pro585Thr						p.P585T	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0593)		16	2183	+			585					D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	c.1753C>A	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	4.369	0.068048	0.08436	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	T;T	0.46063	0.88;0.88	6.02	4.11	0.48088	Integrin alpha-2 (1);	0.654673	0.17227	N	0.182089	T	0.22859	0.0552	N	0.08118	0	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.12915	-1.0529	10	0.37606	T	0.19	.	10.0962	0.42478	0.2398:0.5202:0.24:0.0	.	407;585	Q59H74;P13612	.;ITA4_HUMAN	T	585	ENSP00000380227:P585T;ENSP00000233573:P585T	ENSP00000233573:P585T	P	+	1	0	ITGA4	182082687	0.118000	0.22208	0.382000	0.26119	0.190000	0.23558	1.556000	0.36288	1.532000	0.49169	0.650000	0.86243	CCT		0.398	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1			33	106	1	0	2.47316e-13	1	2.64083e-13	33	106				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			100294341							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	65	0	0	0	1	0	4	65				
ZAN	7455	broad.mit.edu	37	7	100369721	100369721	+	RNA	DEL	T	T	-			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr7:100369721delT	ENST00000348028.3	+	0	5590				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ctctaaattcttttttttttt	0.532																																						ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100369721delT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100369721delT						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	5573	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.532	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		2	4						2	4	---	---	---	---
LY6H	4062	broad.mit.edu	37	8	144240241	144240255	+	In_Frame_Del	DEL	GGACACTGGCACACA	GGACACTGGCACACA	-	rs151331428		TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr8:144240241_144240255delGGACACTGGCACACA	ENST00000430474.2	-	3	317_331	c.152_166delTGTGTGCCAGTGTCC	c.(151-168)gtgtgtgccagtgtccga>gga	p.51_56VCASVR>G	LY6H_ENST00000342752.4_In_Frame_Del_p.72_77VCASVR>G|LY6H_ENST00000414417.2_In_Frame_Del_p.72_77VCASVR>G	NM_002347.4	NP_002338.3	O94772	LY6H_HUMAN	lymphocyte antigen 6 complex, locus H	51	UPAR/Ly6.				nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|stomach(2)	4	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TCGGTGATTCGGACACTGGCACACACCGTGTCGGA	0.614																																						ENST00000414417.2																			0				endometrium(1)|lung(1)|stomach(2)	4						c.(214-231)gga>g		lymphocyte antigen 6 complex, locus H																																				SO:0001651	inframe_deletion	4062				nervous system development|organ morphogenesis	anchored to membrane|plasma membrane		g.chr8:144240241_144240255delGGACACTGGCACACA	AB012293	CCDS6396.1, CCDS47926.1	8q24.3	2008-08-01			ENSG00000176956	ENSG00000176956			6728	protein-coding gene	gene with protein product		603625				9799603	Standard	NM_001130478		Approved	NMLY6	uc011lkb.2	O94772	OTTHUMG00000154890	ENST00000430474.2:c.152_166delTGTGTGCCAGTGTCC	8.37:g.144240241_144240255delGGACACTGGCACACA	ENSP00000409899:p.Val51_Arg56delinsGly					LY6H_ENST00000430474.2_In_Frame_Del_p.VCASVR51del|LY6H_ENST00000342752.4_In_Frame_Del_p.VCASVR72del	p.VCASVR72del	NM_001130478.1	NP_001123950.1	O94772	LY6H_HUMAN			4	448_462	-	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		51			UPAR/Ly6.		B2RAD2|J3KQI0|Q6IAX0	In_Frame_Del	DEL	ENST00000430474.2	37	c.215_229delTGTGTGCCAGTGTCC	CCDS6396.1																																																																																				0.614	LY6H-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337535.1			11	65						11	65	---	---	---	---
ZNF658	26149	broad.mit.edu	37	9	40789482	40789483	+	Splice_Site	INS	-	-	A			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr9:40789482_40789483insA	ENST00000602553.1	-	2	94		c.e2-2		ZNF658_ENST00000441795.1_Splice_Site|ZNF658_ENST00000377626.3_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCATGTGCCTAAAAAAAAAAA	0.426																																						ENST00000602553.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46						c.e2-2		zinc finger protein 658																																				SO:0001630	splice_region_variant	26149				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:40789482_40789483insA	AA482262	CCDS75846.1	9p13.1	2013-01-08			ENSG00000196409	ENSG00000274349		"""Zinc fingers, C2H2-type"", ""-"""	25226	protein-coding gene	gene with protein product							Standard	NM_033160		Approved	MGC35232, DKFZp572C163, FLJ32813	uc004abs.2	Q5TYW1	OTTHUMG00000013392	ENST00000602553.1:c.201-2->T	9.37:g.40789493_40789493dupA						ZNF658_ENST00000377626.3_Intron|ZNF658_ENST00000441795.1_Splice_Site				Q5TYW1	ZN658_HUMAN		GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)	2	94	-								Q6PIP3|Q96M55|Q9H9S6|Q9UG02	Splice_Site	INS	ENST00000602553.1	37		CCDS35023.1																																																																																				0.426	ZNF658-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467800.1	NM_033160	Intron	2	4						2	4	---	---	---	---
TUBBP5	643224	broad.mit.edu	37	9	141069809	141069809	+	RNA	DEL	T	T	-			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr9:141069809delT	ENST00000503395.1	+	0	1023									tubulin, beta pseudogene 5																		CTCCCGTCTCTTGCAGTTCTG	0.662																																						ENST00000503395.1																			0																																																			643224							g.chr9:141069809delT	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141069809delT														0	1023	+									RNA	DEL	ENST00000503395.1	37																																																																																						0.662	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		2	4						2	4	---	---	---	---
TNKS1BP1	85456	broad.mit.edu	37	11	57070255	57070255	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr11:57070255delC	ENST00000532437.1	-	6	4672	c.4361delG	c.(4360-4362)ggcfs	p.G1454fs	TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.G1454fs			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1454	Acidic.|Tankyrase-binding.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCCAGCAGGCCCTGGGAGCC	0.692																																						ENST00000532437.1																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(4360-4362)gcfs		tankyrase 1 binding protein 1, 182kDa							4.0	5.0	5.0					11																	57070255		1995	3981	5976	SO:0001589	frameshift_variant	85456				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	g.chr11:57070255delC	AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.4361delG	11.37:g.57070255delC	ENSP00000437271:p.Gly1454fs					TNKS1BP1_ENST00000358252.3_Frame_Shift_Del_p.G1454fs	p.G1454fs			Q9C0C2	TB182_HUMAN			6	4672	-		all_epithelial(135;0.21)	1454			Acidic.|Tankyrase-binding.		A7E2F8|Q6PJ35|Q6ZV74	Frame_Shift_Del	DEL	ENST00000532437.1	37	c.4361delG	CCDS7951.1																																																																																				0.692	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392455.1	NM_033396		2	4						2	4	---	---	---	---
HERC2P9	440248	broad.mit.edu	37	15	28900331	28900332	+	RNA	DEL	AA	AA	-			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr15:28900331_28900332delAA	ENST00000528584.1	+	0	14					NR_036443.1				hect domain and RLD 2 pseudogene 9																		actctgtctcaaaaaaaaaaaa	0.411																																						ENST00000528584.1																			0																																																			440248							g.chr15:28900331_28900332delAA	BC047911		15q13.1	2011-05-24			ENSG00000206149	ENSG00000206149			30495	pseudogene	pseudogene							Standard	NR_036443		Approved	FLJ59185	uc010azc.3		OTTHUMG00000167114		15.37:g.28900341_28900342delAA								NR_036443.1						0	14	+									RNA	DEL	ENST00000528584.1	37																																																																																						0.411	HERC2P9-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000393268.1	NR_036443		2	4						2	4	---	---	---	---
CEACAM1	634	broad.mit.edu	37	19	43023198	43023199	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr19:43023198_43023199insT	ENST00000161559.6	-	5	1281_1282	c.1147_1148insA	c.(1147-1149)atafs	p.I383fs	LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000308072.4_Intron|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000352591.5_Intron|CEACAM1_ENST00000351134.3_Intron|CEACAM1_ENST00000358394.3_Intron|CEACAM1_ENST00000403461.1_Intron|CEACAM1_ENST00000599389.1_Intron|CEACAM1_ENST00000403444.3_Frame_Shift_Ins_p.I383fs	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	383	Ig-like C2-type 3.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|homophilic cell adhesion (GO:0007156)|integrin-mediated signaling pathway (GO:0007229)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GACAGGGTTTATGCTGAGGGTG	0.51																																						ENST00000161559.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17						c.(1147-1149)aaafs		carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein)	Arcitumomab(DB00113)																																			SO:0001589	frameshift_variant	634				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction		g.chr19:43023198_43023199insT	M72238	CCDS12609.1, CCDS46089.1, CCDS54272.1, CCDS54273.1, CCDS54274.1	19q13.2	2014-05-16			ENSG00000079385	ENSG00000079385		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1814	protein-coding gene	gene with protein product		109770		BGP		2457922, 2025273	Standard	NM_001712		Approved	BGP1, CD66a	uc002otv.3	P13688	OTTHUMG00000151078	ENST00000161559.6:c.1148dupA	19.37:g.43023199_43023199dupT	ENSP00000161559:p.Ile383fs					CEACAM1_ENST00000308072.4_Intron|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000358394.3_Intron|CEACAM1_ENST00000403444.3_Frame_Shift_Ins_p.K383fs|LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000403461.1_Intron|CEACAM1_ENST00000351134.3_Intron|LIPE-AS1_ENST00000457234.2_RNA|CEACAM1_ENST00000352591.5_Intron|CEACAM1_ENST00000599389.1_Intron	p.K383fs	NM_001712.4	NP_001703.2	P13688	CEAM1_HUMAN		GBM - Glioblastoma multiforme(486;0.00148)	5	1281_1282	-		Prostate(69;0.00682)	383			Ig-like C2-type 3.		A6NE38|A8MY49|O60430|Q069I7|Q13854|Q13857|Q13858|Q13859|Q13860|Q15600|Q15601|Q16170|Q5UB49|Q7KYP5|Q96CA7|Q9UQV9	Frame_Shift_Ins	INS	ENST00000161559.6	37	c.1147_1148insA	CCDS12609.1																																																																																				0.510	CEACAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321190.2	NM_001712		42	133						42	133	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36688149	36688151	+	In_Frame_Del	DEL	GTC	GTC	-	rs34292387	byFrequency	TCGA-CN-A6V6-01A-12D-A34J-08	TCGA-CN-A6V6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	641c6a0b-1cfe-4d61-8cf6-b14905efd9f0	63814ff0-1179-4d7a-a30d-068eeb8eb401	g.chr22:36688149_36688151delGTC	ENST00000216181.5	-	31	4455_4457	c.4225_4227delGAC	c.(4225-4227)gacdel	p.D1409del		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1409					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TCTCCAGCTTGTCGTAGGCGGCC	0.64			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(4225-4227)del		myosin, heavy chain 9, non-muscle																																				SO:0001651	inframe_deletion	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36688149_36688151delGTC		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4225_4227delGAC	22.37:g.36688149_36688151delGTC	ENSP00000216181:p.Asp1409del						p.D1409del	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			31	4455_4457	-			1409					A8K6E4|O60805|Q60FE2|Q86T83	In_Frame_Del	DEL	ENST00000216181.5	37	c.4225_4227delGAC	CCDS13927.1																																																																																				0.640	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		10	107						10	107	---	---	---	---
