#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
HMCN1	83872	broad.mit.edu	37	1	186056762	186056762	+	Silent	SNP	C	C	T	rs571746652		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:186056762C>T	ENST00000271588.4	+	60	9577	c.9348C>T	c.(9346-9348)caC>caT	p.H3116H	HMCN1_ENST00000367492.2_Silent_p.H3116H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3116	Ig-like C2-type 29.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAATGCTACACATTAAGAAAG	0.438													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11333	0.0		0.0	False		,,,				2504	0.0					ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(9346-9348)caC>caT		hemicentin 1							101.0	100.0	100.0					1																	186056762		2202	4299	6501	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186056762C>T	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9348C>T	1.37:g.186056762C>T						HMCN1_ENST00000367492.2_Silent_p.H3116H	p.H3116H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			60	9577	+			3116			Ig-like C2-type 29.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.9348C>T	CCDS30956.1																																																																																				0.438	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		50	46	0	0	0	1	0	50	46				
HMOX2	3163	broad.mit.edu	37	16	4559437	4559437	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr16:4559437G>A	ENST00000570646.1	+	5	1326	c.721G>A	c.(721-723)Ggc>Agc	p.G241S	HMOX2_ENST00000414777.1_Missense_Mutation_p.G241S|HMOX2_ENST00000398595.3_Missense_Mutation_p.G241S|HMOX2_ENST00000458134.3_Missense_Mutation_p.G241S|HMOX2_ENST00000219700.6_Missense_Mutation_p.G241S|HMOX2_ENST00000406590.2_Missense_Mutation_p.G241S|HMOX2_ENST00000575120.1_Missense_Mutation_p.G212S	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	241					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						GGACCAGGCCGGCTCCACACT	0.478																																						ENST00000570646.1																			0				endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(721-723)Ggc>Agc		heme oxygenase (decycling) 2	NADH(DB00157)						153.0	156.0	155.0					16																	4559437		2197	4300	6497	SO:0001583	missense	3163				cellular iron ion homeostasis|heme catabolic process|heme oxidation|response to hypoxia|transmembrane transport	endoplasmic reticulum membrane|microsome|plasma membrane	electron carrier activity|heme oxygenase (decyclizing) activity|metal ion binding|protein binding	g.chr16:4559437G>A		CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.721G>A	16.37:g.4559437G>A	ENSP00000459214:p.Gly241Ser					HMOX2_ENST00000398595.3_Missense_Mutation_p.G241S|HMOX2_ENST00000458134.3_Missense_Mutation_p.G241S|HMOX2_ENST00000414777.1_Missense_Mutation_p.G241S|HMOX2_ENST00000575120.1_Missense_Mutation_p.G212S|HMOX2_ENST00000219700.6_Missense_Mutation_p.G241S|HMOX2_ENST00000406590.2_Missense_Mutation_p.G241S	p.G241S	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN			5	1326	+			241					A8MT35|D3DUD5|I3L430|O60605	Missense_Mutation	SNP	ENST00000570646.1	37	c.721G>A	CCDS10517.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712335	0.68730	.	.	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.31	3.31	0.37934	Haem oxygenase-like, multi-helical (2);	0.042743	0.85682	D	0.000000	T	0.22360	0.0539	M	0.71581	2.175	0.80722	D	1	D;D	0.54601	0.967;0.967	B;B	0.41440	0.357;0.357	T	0.17868	-1.0355	10	0.08599	T	0.76	-1.4608	14.6849	0.69042	0.0:0.276:0.724:0.0	.	241;241	B3KSE0;P30519	.;HMOX2_HUMAN	S	241	ENSP00000385100:G241S;ENSP00000394103:G241S;ENSP00000219700:G241S;ENSP00000391637:G241S;ENSP00000381595:G241S	ENSP00000219700:G241S	G	+	1	0	HMOX2	4499438	1.000000	0.71417	0.999000	0.59377	0.368000	0.29767	5.356000	0.66052	0.784000	0.33661	-0.264000	0.10439	GGC		0.478	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251636.2			15	233	0	0	0	1	0	15	233				
NAA38	84316	broad.mit.edu	37	17	7760438	7760438	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr17:7760438G>A	ENST00000335155.5	-	2	159	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	LSMD1_ENST00000333775.5_Missense_Mutation_p.R102C|CYB5D1_ENST00000570446.1_5'Flank|LSMD1_ENST00000575208.1_Missense_Mutation_p.R2C|CYB5D1_ENST00000332439.4_5'Flank|LSMD1_ENST00000575771.1_Missense_Mutation_p.R2C|LSMD1_ENST00000575071.1_Missense_Mutation_p.R2C|LSMD1_ENST00000570555.1_5'Flank|LSMD1_ENST00000576384.1_Missense_Mutation_p.R2C|CYB5D1_ENST00000571846.1_5'Flank|LSMD1_ENST00000576861.1_Missense_Mutation_p.R28C			Q9BRA0	LSMD1_HUMAN		54					negative regulation of apoptotic process (GO:0043066)	cytoplasm (GO:0005737)|NatC complex (GO:0031417)|nucleus (GO:0005634)				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				ATGCGAATGCGCATAGTCTTG	0.632											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(66;626 1401 29924 42527)	ENST00000333775.5																			0				endometrium(1)|lung(2)|ovary(1)	4						c.(304-306)Cgc>Tgc		LSM domain containing 1							116.0	114.0	115.0					17																	7760438		2203	4300	6503	SO:0001583	missense	84316					cytoplasm|nucleus		g.chr17:7760438G>A																												ENST00000335155.5:c.160C>T	17.37:g.7760438G>A	ENSP00000335611:p.Arg54Cys		OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	644	LSMD1_ENST00000576384.1_Missense_Mutation_p.R2C|LSMD1_ENST00000575208.1_Missense_Mutation_p.R2C|LSMD1_ENST00000575071.1_Missense_Mutation_p.R2C|LSMD1_ENST00000335155.5_Missense_Mutation_p.R54C|LSMD1_ENST00000576861.1_Missense_Mutation_p.R28C|LSMD1_ENST00000575771.1_Missense_Mutation_p.R2C	p.R102C	NM_032356.3	NP_115732.2	Q9BRA0	LSMD1_HUMAN			1	734	-		all_cancers(10;0.11)|Prostate(122;0.219)	54					Q8N4M0	Missense_Mutation	SNP	ENST00000335155.5	37	c.304C>T		.	.	.	.	.	.	.	.	.	.	G	24.8	4.573919	0.86542	.	.	ENSG00000183011	ENST00000333775;ENST00000335155	T;T	0.45276	0.9;0.9	5.39	5.39	0.77823	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.102633	0.64402	D	0.000008	T	0.66877	0.2834	M	0.84948	2.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.991	T	0.71790	-0.4486	10	0.72032	D	0.01	.	12.9573	0.58434	0.0:0.0:0.8379:0.1621	.	102;54	Q9BRA0-2;Q9BRA0	.;LSMD1_HUMAN	C	102;54	ENSP00000332103:R102C;ENSP00000335611:R54C	ENSP00000332103:R102C	R	-	1	0	LSMD1	7701163	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.332000	0.59279	2.540000	0.85666	0.448000	0.29417	CGC		0.632	LSMD1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	204	0	0	0	1	0	6	204				
CA1	759	broad.mit.edu	37	8	86250622	86250622	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:86250622C>T	ENST00000523953.1	-	4	1140	c.94G>A	c.(94-96)Gtt>Att	p.V32I	CA1_ENST00000431316.1_Missense_Mutation_p.V32I|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000256119.5_Missense_Mutation_p.V32I|CA1_ENST00000522389.1_Intron|CA1_ENST00000432364.2_Missense_Mutation_p.V32I|CA1_ENST00000542576.1_Missense_Mutation_p.V32I|CA1_ENST00000523022.1_Missense_Mutation_p.V32I			P00915	CAH1_HUMAN	carbonic anhydrase I	32					bicarbonate transport (GO:0015701)|one-carbon metabolic process (GO:0006730)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Diclofenamide(DB01144)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methazolamide(DB00703)|Methocarbamol(DB00423)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Zonisamide(DB00909)	TTAATATCAACAGGGGACTGG	0.423																																						ENST00000523953.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13						c.(94-96)Gtt>Att		carbonic anhydrase I	Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)						232.0	234.0	233.0					8																	86250622		2203	4300	6503	SO:0001583	missense	759				one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding	g.chr8:86250622C>T	M33987	CCDS6237.1	8q21.2	2006-03-10				ENSG00000133742	4.2.1.1	"""Carbonic anhydrases"""	1368	protein-coding gene	gene with protein product		114800				1916821	Standard	NM_001164830		Approved	Car1	uc003ydi.3	P00915		ENST00000523953.1:c.94G>A	8.37:g.86250622C>T	ENSP00000430656:p.Val32Ile					CA1_ENST00000431316.1_Missense_Mutation_p.V32I|CA1_ENST00000522389.1_Intron|CA1_ENST00000523022.1_Missense_Mutation_p.V32I|CA1_ENST00000518341.1_5'UTR|CA1_ENST00000432364.2_Missense_Mutation_p.V32I|CA1_ENST00000256119.5_Missense_Mutation_p.V32I|CA1_ENST00000542576.1_Missense_Mutation_p.V32I	p.V32I			P00915	CAH1_HUMAN			4	1140	-		all_lung(136;4.89e-06)	32						Missense_Mutation	SNP	ENST00000523953.1	37	c.94G>A	CCDS6237.1	.	.	.	.	.	.	.	.	.	.	C	0.946	-0.707809	0.03230	.	.	ENSG00000133742	ENST00000523953;ENST00000256119;ENST00000431316;ENST00000542576;ENST00000432364;ENST00000523022;ENST00000517618;ENST00000517590;ENST00000521846;ENST00000522579;ENST00000522814;ENST00000522662;ENST00000523858	T;T;T;T;T;T;T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.53	2.94	0.34122	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.143577	0.64402	N	0.000008	T	0.09335	0.0230	N	0.00242	-1.785	0.31179	N	0.70232	B	0.02656	0.0	B	0.04013	0.001	T	0.35500	-0.9786	10	0.02654	T	1	-13.4445	9.1647	0.37043	0.0:0.1545:0.0:0.8455	.	32	P00915	CAH1_HUMAN	I	32	ENSP00000430656:V32I;ENSP00000256119:V32I;ENSP00000392338:V32I;ENSP00000443517:V32I;ENSP00000401551:V32I;ENSP00000429798:V32I;ENSP00000430861:V32I;ENSP00000429843:V32I;ENSP00000430471:V32I;ENSP00000427852:V32I;ENSP00000430737:V32I;ENSP00000430372:V32I;ENSP00000430975:V32I	ENSP00000256119:V32I	V	-	1	0	CA1	86437874	0.998000	0.40836	0.064000	0.19789	0.532000	0.34746	3.389000	0.52516	0.359000	0.24239	-0.438000	0.05819	GTT		0.423	CA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381067.1	NM_001738		10	394	0	0	0	1	0	10	394				
LAMA3	3909	broad.mit.edu	37	18	21364040	21364040	+	Missense_Mutation	SNP	C	C	T	rs369896333		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr18:21364040C>T	ENST00000313654.9	+	12	1763	c.1522C>T	c.(1522-1524)Cgg>Tgg	p.R508W	LAMA3_ENST00000399516.3_Missense_Mutation_p.R508W	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	508	Domain V.|Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGCCCACGGACGGTGCCTGTG	0.532													C|||	1	0.000199681	0.0	0.0	5008	,	,		16615	0.0		0.001	False		,,,				2504	0.0					ENST00000313654.9																			0				NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128						c.(1522-1524)Cgg>Tgg		laminin, alpha 3	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	C	TRP/ARG,TRP/ARG	0,3902		0,0,1951	176.0	181.0	179.0		1522,1522	1.9	0.9	18		179	1,8257		0,1,4128	no	missense,missense	LAMA3	NM_001127717.1,NM_198129.1	101,101	0,1,6079	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging,probably-damaging	508/3278,508/3334	21364040	1,12159	1951	4129	6080	SO:0001583	missense	3909				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr18:21364040C>T	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1522C>T	18.37:g.21364040C>T	ENSP00000324532:p.Arg508Trp					LAMA3_ENST00000399516.3_Missense_Mutation_p.R508W	p.R508W	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN			12	1763	+	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)		508			Domain V.|Laminin EGF-like 4.		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	ENST00000313654.9	37	c.1522C>T	CCDS42419.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885020	0.33255	0.0	1.21E-4	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669;ENST00000538801	T;T	0.34859	1.34;1.34	5.65	1.85	0.25348	EGF-like, laminin (3);	.	.	.	.	T	0.64000	0.2559	M	0.88181	2.935	0.26178	N	0.979761	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.96;0.998;0.995	T	0.57412	-0.7816	9	0.66056	D	0.02	.	12.0979	0.53765	0.5713:0.4287:0.0:0.0	.	510;508;508	F5H8G3;Q6VU67;Q16787	.;.;LAMA3_HUMAN	W	508;508;506;510	ENSP00000324532:R508W;ENSP00000382432:R508W	ENSP00000324532:R508W	R	+	1	2	LAMA3	19618038	0.992000	0.36948	0.911000	0.35937	0.011000	0.07611	2.370000	0.44240	0.086000	0.17137	-1.448000	0.01049	CGG		0.532	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254824.3	NM_000227, NM_198129		22	182	0	0	0	1	0	22	182				
TMCO4	255104	broad.mit.edu	37	1	20073664	20073664	+	Missense_Mutation	SNP	G	G	A	rs146596460		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:20073664G>A	ENST00000294543.6	-	8	846	c.605C>T	c.(604-606)aCg>aTg	p.T202M	TMCO4_ENST00000375127.1_Missense_Mutation_p.T202M|TMCO4_ENST00000375122.2_Missense_Mutation_p.T202M	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	202						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		ACCGATCACCGTTCCGCCTCC	0.547																																						ENST00000294543.6																			0				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19						c.(604-606)aCg>aTg		transmembrane and coiled-coil domains 4		G	MET/THR	0,4406		0,0,2203	281.0	290.0	287.0		605	5.3	0.9	1	dbSNP_134	287	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMCO4	NM_181719.4	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	202/635	20073664	1,13005	2203	4300	6503	SO:0001583	missense	255104					integral to membrane		g.chr1:20073664G>A		CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.605C>T	1.37:g.20073664G>A	ENSP00000294543:p.Thr202Met					TMCO4_ENST00000375122.2_Missense_Mutation_p.T202M|TMCO4_ENST00000375127.1_Missense_Mutation_p.T202M	p.T202M	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)	8	846	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	202					Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	ENST00000294543.6	37	c.605C>T	CCDS198.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146070	0.77888	0.0	1.16E-4	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.44083	0.93;0.93;0.93	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	M	0.76838	2.35	0.49213	D	0.999767	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	T	0.68800	-0.5313	10	0.56958	D	0.05	-5.9679	16.5105	0.84283	0.0:0.0:1.0:0.0	.	202;202	Q5TGY1;Q5TGY1-2	TMCO4_HUMAN;.	M	202	ENSP00000294543:T202M;ENSP00000364269:T202M;ENSP00000364264:T202M	ENSP00000294543:T202M	T	-	2	0	TMCO4	19946251	1.000000	0.71417	0.885000	0.34714	0.668000	0.39293	8.444000	0.90323	2.484000	0.83849	0.655000	0.94253	ACG		0.547	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007658.1	NM_181719		229	317	0	0	0	1	0	229	317				
LRRC4C	57689	broad.mit.edu	37	11	40137468	40137468	+	Silent	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:40137468G>A	ENST00000278198.2	-	2	2338	c.375C>T	c.(373-375)aaC>aaT	p.N125N	LRRC4C_ENST00000527150.1_Silent_p.N125N|LRRC4C_ENST00000528697.1_Silent_p.N125N|LRRC4C_ENST00000530763.1_Silent_p.N125N			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	125					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGTGTTGAGGTTCGCCAGAC	0.438																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(373-375)aaC>aaT		leucine rich repeat containing 4C							72.0	72.0	72.0					11																	40137468		2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137468G>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.375C>T	11.37:g.40137468G>A						LRRC4C_ENST00000528697.1_Silent_p.N125N|LRRC4C_ENST00000527150.1_Silent_p.N125N|LRRC4C_ENST00000530763.1_Silent_p.N125N	p.N125N			Q9HCJ2	LRC4C_HUMAN			2	2338	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	125					A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.375C>T	CCDS31464.1																																																																																				0.438	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		9	43	0	0	0	1	0	9	43				
LAMA2	3908	broad.mit.edu	37	6	129637064	129637064	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:129637064A>G	ENST00000421865.2	+	26	3942	c.3893A>G	c.(3892-3894)cAa>cGa	p.Q1298R		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1298	Laminin IV type A 2. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGATTGGCCAATTGACAAGG	0.398																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(3892-3894)cAa>cGa		laminin, alpha 2							101.0	103.0	102.0					6																	129637064		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129637064A>G	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.3893A>G	6.37:g.129637064A>G	ENSP00000400365:p.Gln1298Arg						p.Q1298R	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	26	3942	+			1298			Laminin IV type A 2.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.3893A>G	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092683	0.76756	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.34667	1.35	5.4	5.4	0.78164	Laminin B type IV (2);Laminin B, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.46483	0.1395	L	0.56280	1.765	0.58432	D	0.999993	P;D	0.69078	0.909;0.997	P;D	0.80764	0.858;0.994	T	0.42068	-0.9473	10	0.46703	T	0.11	.	15.7181	0.77685	1.0:0.0:0.0:0.0	.	1298;1298	A6NF00;P24043	.;LAMA2_HUMAN	R	1298	ENSP00000400365:Q1298R	ENSP00000346769:Q1298R	Q	+	2	0	LAMA2	129678757	1.000000	0.71417	0.908000	0.35775	0.879000	0.50718	8.905000	0.92613	2.169000	0.68431	0.533000	0.62120	CAA		0.398	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			44	65	0	0	0	1	0	44	65				
GLRA1	2741	broad.mit.edu	37	5	151208547	151208547	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:151208547C>G	ENST00000455880.2	-	8	1280	c.994G>C	c.(994-996)Gtt>Ctt	p.V332L	GLRA1_ENST00000545569.1_Missense_Mutation_p.V249L|GLRA1_ENST00000274576.4_Missense_Mutation_p.V332L			P23415	GLRA1_HUMAN	glycine receptor, alpha 1	332					acrosome reaction (GO:0007340)|action potential (GO:0001508)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|muscle contraction (GO:0006936)|negative regulation of transmission of nerve impulse (GO:0051970)|neuromuscular process controlling posture (GO:0050884)|neuropeptide signaling pathway (GO:0007218)|positive regulation of acrosome reaction (GO:2000344)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|external side of plasma membrane (GO:0009897)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|taurine binding (GO:0030977)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Ginkgo biloba(DB01381)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Lindane(DB00431)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACAAAGTTAACGGCAGCATAT	0.512																																						ENST00000274576.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23						c.(994-996)Gtt>Ctt		glycine receptor, alpha 1	Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						125.0	121.0	123.0					5																	151208547		2203	4300	6503	SO:0001583	missense	2741				muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	g.chr5:151208547C>G		CCDS4320.1, CCDS54942.1	5q33.1	2012-02-07	2008-01-24		ENSG00000145888	ENSG00000145888		"""Ligand-gated ion channels / Glycine receptors"""	4326	protein-coding gene	gene with protein product	"""startle disease/hyperekplexia"", ""stiff person syndrome"""	138491	"""glycine receptor, alpha 1 (startle disease/hyperekplexia)"""	STHE		1355335, 8298642	Standard	NM_000171		Approved		uc003lut.3	P23415	OTTHUMG00000130121	ENST00000455880.2:c.994G>C	5.37:g.151208547C>G	ENSP00000411593:p.Val332Leu					GLRA1_ENST00000455880.2_Missense_Mutation_p.V332L|GLRA1_ENST00000545569.1_Missense_Mutation_p.V249L	p.V332L	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		8	1286	-		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	332					B2R6T3|Q14C77|Q6DJV9	Missense_Mutation	SNP	ENST00000455880.2	37	c.994G>C	CCDS54942.1	.	.	.	.	.	.	.	.	.	.	C	34	5.330936	0.95733	.	.	ENSG00000145888	ENST00000274576;ENST00000455880;ENST00000545569	D;D;D	0.89552	-2.53;-2.53;-2.53	5.07	5.07	0.68467	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.92024	0.7473	M	0.77103	2.36	0.80722	D	1	P;P;P	0.40032	0.699;0.631;0.466	P;P;B	0.46629	0.522;0.522;0.313	D	0.93074	0.6485	10	0.87932	D	0	.	18.826	0.92119	0.0:1.0:0.0:0.0	.	332;249;332	P23415;Q14C71;P23415-2	GLRA1_HUMAN;.;.	L	332;332;249	ENSP00000274576:V332L;ENSP00000411593:V332L;ENSP00000445913:V249L	ENSP00000274576:V332L	V	-	1	0	GLRA1	151188740	1.000000	0.71417	0.959000	0.39883	0.892000	0.51952	7.557000	0.82243	2.524000	0.85096	0.650000	0.86243	GTT		0.512	GLRA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000373959.1			52	84	0	0	0	1	0	52	84				
ZNF326	284695	broad.mit.edu	37	1	90482961	90482961	+	Missense_Mutation	SNP	G	G	C			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:90482961G>C	ENST00000340281.4	+	8	1155	c.1012G>C	c.(1012-1014)Gaa>Caa	p.E338Q	ZNF326_ENST00000455342.2_Missense_Mutation_p.E132Q|ZNF326_ENST00000370447.3_Missense_Mutation_p.E249Q	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	338					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TTCACATCAGGAAACATTAGA	0.294																																						ENST00000340281.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25						c.(1012-1014)Gaa>Caa		zinc finger protein 326							64.0	65.0	65.0					1																	90482961		2201	4292	6493	SO:0001583	missense	284695				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	g.chr1:90482961G>C	BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1012G>C	1.37:g.90482961G>C	ENSP00000340796:p.Glu338Gln					ZNF326_ENST00000370447.2_Missense_Mutation_p.E249Q|ZNF326_ENST00000455342.2_Missense_Mutation_p.E132Q	p.E338Q	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN		all cancers(265;0.00728)|Epithelial(280;0.0265)	8	1155	+		all_lung(203;0.0116)|Lung NSC(277;0.0417)	338					A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	ENST00000340281.4	37	c.1012G>C	CCDS727.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.556040	0.86231	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.57595	0.39;0.39;0.39	5.48	5.48	0.80851	.	0.054916	0.64402	D	0.000001	T	0.63698	0.2533	M	0.66939	2.045	0.51767	D	0.99993	D;D	0.61080	0.989;0.989	P;P	0.59424	0.857;0.857	T	0.66889	-0.5809	10	0.72032	D	0.01	-9.5829	19.3839	0.94548	0.0:0.0:1.0:0.0	.	338;338	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	Q	338;338;249;132	ENSP00000340796:E338Q;ENSP00000359476:E249Q;ENSP00000403470:E132Q	ENSP00000340796:E338Q	E	+	1	0	ZNF326	90255549	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.786000	0.85741	2.578000	0.87016	0.650000	0.86243	GAA		0.294	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029428.2	NM_181781		11	15	0	0	0	1	0	11	15				
KDM6A	7403	broad.mit.edu	37	X	44942769	44942769	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chrX:44942769A>T	ENST00000377967.4	+	23	3390	c.3349A>T	c.(3349-3351)Aat>Tat	p.N1117Y	KDM6A_ENST00000382899.4_Missense_Mutation_p.N1124Y|KDM6A_ENST00000536777.1_Missense_Mutation_p.N1072Y|KDM6A_ENST00000543216.1_Missense_Mutation_p.N1038Y	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1117	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ATCAGCAGGAAATCTTCTAAG	0.413			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)	ENST00000377967.4				Rec	yes		X	Xp11.2	7403	"""D, N, F, S"""	"""lysine (K)-specific demethylase 6A, UTX"""			"""E, L"""			"""renal, oesophageal SCC, MM"""		6	Whole gene deletion(6)	p.0?(6)	oesophagus(2)|breast(2)|pancreas(2)	NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						c.(3349-3351)Aat>Tat		lysine (K)-specific demethylase 6A							153.0	111.0	125.0					X																	44942769		2203	4300	6503	SO:0001583	missense	7403				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chrX:44942769A>T	AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.3349A>T	X.37:g.44942769A>T	ENSP00000367203:p.Asn1117Tyr					KDM6A_ENST00000536777.1_Missense_Mutation_p.N1072Y|KDM6A_ENST00000543216.1_Missense_Mutation_p.N1038Y|KDM6A_ENST00000382899.4_Missense_Mutation_p.N1124Y	p.N1117Y	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN			23	3390	+			1117			JmjC.		Q52LL9|Q5JVQ7	Missense_Mutation	SNP	ENST00000377967.4	37	c.3349A>T	CCDS14265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.3|27.3	4.822671|4.822671	0.90873|0.90873	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|T;T;T;T	.|0.72394	.|-0.65;-0.65;-0.65;-0.65	5.24|5.24	5.24|5.24	0.73138|0.73138	.|Transcription factor jumonji/aspartyl beta-hydroxylase (2);	.|0.043831	.|0.85682	.|D	.|0.000000	D|D	0.87220|0.87220	0.6123|0.6123	M|M	0.92507|0.92507	3.315|3.315	0.80722|0.80722	D|D	1|1	.|D;P;P;D;D	.|0.71674	.|0.998;0.763;0.82;0.991;0.975	.|D;B;P;P;D	.|0.77557	.|0.99;0.351;0.843;0.886;0.928	D|D	0.90304|0.90304	0.4332|0.4332	5|10	.|0.87932	.|D	.|0	-4.5339|-4.5339	14.2463|14.2463	0.65990|0.65990	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|756;1124;1072;1169;1117	.|B4E0L8;F8W8R6;F5H6S1;B7ZKN5;O15550	.|.;.;.;.;KDM6A_HUMAN	I|Y	714;759|814;1117;1072;1124;1038	.|ENSP00000367203:N1117Y;ENSP00000437405:N1072Y;ENSP00000372355:N1124Y;ENSP00000443078:N1038Y	.|ENSP00000334340:N814Y	K|N	+|+	2|1	0|0	KDM6A|KDM6A	44827713|44827713	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.049000|7.049000	0.76613|0.76613	1.742000|1.742000	0.51746|0.51746	0.472000|0.472000	0.43445|0.43445	AAA|AAT		0.413	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056324.1	NM_021140		27	3	0	0	0	1	0	27	3				
KMT2E	55904	broad.mit.edu	37	7	104753458	104753458	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr7:104753458C>T	ENST00000311117.3	+	27	5800	c.5255C>T	c.(5254-5256)tCg>tTg	p.S1752L	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000257745.4_Missense_Mutation_p.S1752L|KMT2E_ENST00000334877.4_Missense_Mutation_p.S1710L	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1752	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CTTTTTCCTTCGAGTGCTCAT	0.552																																						ENST00000334877.4																			0											c.(5128-5130)tCg>tTg		lysine (K)-specific methyltransferase 2E							280.0	219.0	240.0					7																	104753458		2203	4300	6503	SO:0001583	missense	55904							g.chr7:104753458C>T	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.5255C>T	7.37:g.104753458C>T	ENSP00000312379:p.Ser1752Leu					SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000311117.3_Missense_Mutation_p.S1752L|KMT2E_ENST00000257745.4_Missense_Mutation_p.S1752L	p.S1710L							26	5663	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	ENST00000311117.3	37	c.5129C>T	CCDS34723.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.941|3.941	-0.014192|-0.014192	0.07681|0.07681	.|.	.|.	ENSG00000005483|ENSG00000005483	ENST00000393656|ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	.|D;D;D	.|0.92858	.|-3.12;-2.87;-3.12	3.96|3.96	3.05|3.05	0.35203|0.35203	.|.	.|0.701876	.|0.11607	.|N	.|0.547170	.|D	.|0.83908	.|0.5356	N|N	0.19112|0.19112	0.55|0.55	0.80722|0.80722	D|D	1|1	.|B;B	.|0.34181	.|0.44;0.091	.|B;B	.|0.22386	.|0.039;0.01	.|T	.|0.78097	.|-0.2337	.|10	0.02654|0.45353	T|T	1|0.12	.|.	12.1068|12.1068	0.53818|0.53818	0.0:0.913:0.0:0.087|0.0:0.913:0.0:0.087	.|.	.|1672;1752	.|F8W6H1;Q8IZD2	.|.;MLL5_HUMAN	X|L	1535|1752;1710;1672;1752	.|ENSP00000312379:S1752L;ENSP00000335599:S1710L;ENSP00000257745:S1752L	ENSP00000377266:R1535X|ENSP00000257745:S1752L	R|S	+|+	1|2	2|0	MLL5|MLL5	104540694|104540694	0.861000|0.861000	0.29849|0.29849	0.263000|0.263000	0.24496|0.24496	0.621000|0.621000	0.37620|0.37620	3.180000|3.180000	0.50895|0.50895	0.763000|0.763000	0.33175|0.33175	0.460000|0.460000	0.39030|0.39030	CGA|TCG		0.552	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			4	162	0	0	0	1	0	4	162				
IRGQ	126298	broad.mit.edu	37	19	44097045	44097045	+	Silent	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:44097045G>A	ENST00000602269.1	-	2	1190	c.1005C>T	c.(1003-1005)ggC>ggT	p.G335G	IRGQ_ENST00000422989.1_Silent_p.G335G|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Silent_p.G48G			Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	335	IRG-type G.									endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCGGATCCTCGCCCTCGCCGT	0.617																																						ENST00000422989.1																			0				endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18						c.(1003-1005)ggC>ggT		immunity-related GTPase family, Q							159.0	154.0	155.0					19																	44097045		2203	4300	6503	SO:0001819	synonymous_variant	126298						protein binding	g.chr19:44097045G>A	AF322648	CCDS33040.1	19q13.31	2013-07-03	2005-10-31	2005-10-31		ENSG00000167378			24868	protein-coding gene	gene with protein product			"""immunity-related GTPase family, Q1"""	IRGQ1		16277747	Standard	NM_001007561		Approved	FKSG27	uc010eiv.2	Q8WZA9		ENST00000602269.1:c.1005C>T	19.37:g.44097045G>A						IRGQ_ENST00000602269.1_Silent_p.G335G|IRGQ_ENST00000601520.1_5'UTR|L34079.2_ENST00000594374.1_Silent_p.G48G	p.G335G	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN			3	1160	-		Prostate(69;0.0199)	335					B2RNP3	Silent	SNP	ENST00000602269.1	37	c.1005C>T	CCDS33040.1																																																																																				0.617	IRGQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463205.1	NM_001007561		12	153	0	0	0	1	0	12	153				
RHOB	388	broad.mit.edu	37	2	20647434	20647434	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:20647434C>T	ENST00000272233.4	+	1	600	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	70					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|GTP catabolic process (GO:0006184)|negative regulation of cell cycle (GO:0045786)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|transformed cell apoptotic process (GO:0006927)	cleavage furrow (GO:0032154)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	Botulinum Toxin Type A(DB00083)	CGACCGCCTGCGGCCGCTCTC	0.647																																						ENST00000272233.4																			0				breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7						c.(208-210)Cgg>Tgg		ras homolog family member B							60.0	73.0	68.0					2																	20647434		2203	4300	6503	SO:0001583	missense	388				angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr2:20647434C>T		CCDS1699.1	2p24	2012-02-27	2012-02-27	2004-03-24	ENSG00000143878	ENSG00000143878			668	protein-coding gene	gene with protein product	"""oncogene RHO H6"""	165370	"""ras homolog gene family, member B"""	ARH6, ARHB		3283705, 16278215	Standard	NM_004040		Approved	RhoB, RHOH6, MST081	uc002rdv.3	P62745	OTTHUMG00000090755	ENST00000272233.4:c.208C>T	2.37:g.20647434C>T	ENSP00000272233:p.Arg70Trp						p.R70W	NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)	1	600	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)	70					B2R692|P01121|Q5U0H6|Q7RTN5|Q7RTR9|Q9CUV7	Missense_Mutation	SNP	ENST00000272233.4	37	c.208C>T	CCDS1699.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.191729	0.38707	.	.	ENSG00000143878	ENST00000272233	T	0.71103	-0.54	5.38	1.45	0.22620	Small GTP-binding protein domain (1);	0.072909	0.56097	U	0.000035	D	0.87180	0.6113	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83831	0.0252	10	0.87932	D	0	-11.4231	6.0316	0.19683	0.2505:0.5634:0.1207:0.0654	.	70	P62745	RHOB_HUMAN	W	70	ENSP00000272233:R70W	ENSP00000272233:R70W	R	+	1	2	RHOB	20510915	1.000000	0.71417	0.994000	0.49952	0.003000	0.03518	4.680000	0.61656	0.058000	0.16222	-1.097000	0.02148	CGG		0.647	RHOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207500.1	NM_004040		7	80	0	0	0	1	0	7	80				
CLEC4F	165530	broad.mit.edu	37	2	71046973	71046973	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:71046973C>T	ENST00000272367.2	-	2	188	c.112G>A	c.(112-114)Gtt>Att	p.V38I	CLEC4F_ENST00000426626.1_Missense_Mutation_p.V38I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	38					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GTAGCCTGAACGAGCCTCGGT	0.552																																					Colon(107;10 2157 6841 26035)	ENST00000272367.2																			0				endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						c.(112-114)Gtt>Att		C-type lectin domain family 4, member F							57.0	56.0	57.0					2																	71046973		2203	4300	6503	SO:0001583	missense	165530				endocytosis	integral to membrane	receptor activity|sugar binding	g.chr2:71046973C>T	AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.112G>A	2.37:g.71046973C>T	ENSP00000272367:p.Val38Ile					CLEC4F_ENST00000426626.1_Missense_Mutation_p.V38I	p.V38I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN			2	188	-			38					A4QPA5	Missense_Mutation	SNP	ENST00000272367.2	37	c.112G>A	CCDS1910.1	.	.	.	.	.	.	.	.	.	.	C	3.407	-0.121108	0.06838	.	.	ENSG00000152672	ENST00000272367;ENST00000426626	T;T	0.02280	4.4;4.36	4.66	-4.04	0.04010	.	2.435590	0.02456	N	0.086106	T	0.01320	0.0043	N	0.11560	0.145	0.09310	N	1	B;B	0.10296	0.003;0.003	B;B	0.04013	0.001;0.001	T	0.45731	-0.9241	10	0.21540	T	0.41	.	2.0462	0.03561	0.1117:0.3842:0.202:0.302	.	38;38	B7ZMM1;Q8N1N0	.;CLC4F_HUMAN	I	38	ENSP00000272367:V38I;ENSP00000390581:V38I	ENSP00000272367:V38I	V	-	1	0	CLEC4F	70900481	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.452000	0.01005	-1.453000	0.01928	-1.595000	0.00837	GTT		0.552	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251922.1	NM_173535		18	29	0	0	0	1	0	18	29				
CAP2	10486	broad.mit.edu	37	6	17507505	17507505	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:17507505G>A	ENST00000229922.2	+	5	938	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	CAP2_ENST00000489374.1_Intron|CAP2_ENST00000378990.2_Missense_Mutation_p.V110I|CAP2_ENST00000465994.1_Missense_Mutation_p.V136I|CAP2_ENST00000493172.1_Intron	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	136					activation of adenylate cyclase activity (GO:0007190)|axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|establishment or maintenance of cell polarity (GO:0007163)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)		p.V136I(3)		breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			TCTTTCGGCCGTCAGCGAAAG	0.483																																						ENST00000229922.2																			3	Substitution - Missense(3)	p.V136I(3)	breast(2)|endometrium(1)	breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27						c.(406-408)Gtc>Atc		CAP, adenylate cyclase-associated protein, 2 (yeast)							131.0	103.0	113.0					6																	17507505		2203	4300	6503	SO:0001583	missense	10486				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding	g.chr6:17507505G>A	BC008481	CCDS4539.1	6p22.3	2008-02-05			ENSG00000112186	ENSG00000112186			20039	protein-coding gene	gene with protein product						7962207, 8761950	Standard	NM_006366		Approved		uc003ncb.3	P40123	OTTHUMG00000014311	ENST00000229922.2:c.406G>A	6.37:g.17507505G>A	ENSP00000229922:p.Val136Ile					CAP2_ENST00000489374.1_Intron|CAP2_ENST00000493172.1_Intron|CAP2_ENST00000465994.1_Missense_Mutation_p.V136I|CAP2_ENST00000378990.2_Missense_Mutation_p.V110I	p.V136I	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	all cancers(50;0.194)|Epithelial(50;0.227)		5	938	+	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	136					B2R5Y3|B7Z1C4|B7Z214|Q6IAY2	Missense_Mutation	SNP	ENST00000229922.2	37	c.406G>A	CCDS4539.1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.660244	0.29515	.	.	ENSG00000112186	ENST00000229922;ENST00000378994;ENST00000378990;ENST00000465994	T;T;T	0.12465	2.68;2.68;2.68	5.38	5.38	0.77491	Adenylate cyclase-associated CAP, N-terminal (2);	0.113597	0.64402	D	0.000013	T	0.02807	0.0084	N	0.20807	0.61	0.27729	N	0.944873	P;P;B	0.40970	0.536;0.734;0.429	B;B;B	0.37780	0.072;0.258;0.088	T	0.34900	-0.9810	10	0.14656	T	0.56	-20.36	9.511	0.39076	0.1588:0.0:0.8412:0.0	.	136;110;136	B7Z1C4;E9PDI2;P40123	.;.;CAP2_HUMAN	I	136;136;110;136	ENSP00000229922:V136I;ENSP00000368275:V110I;ENSP00000418604:V136I	ENSP00000229922:V136I	V	+	1	0	CAP2	17615484	1.000000	0.71417	0.990000	0.47175	0.998000	0.95712	5.605000	0.67634	2.515000	0.84797	0.557000	0.71058	GTC		0.483	CAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039952.2			4	58	0	0	0	1	0	4	58				
MIA3	375056	broad.mit.edu	37	1	222805661	222805661	+	Silent	SNP	G	G	C			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:222805661G>C	ENST00000344922.5	+	5	3349	c.3324G>C	c.(3322-3324)ctG>ctC	p.L1108L	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Silent_p.L1108L|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1108					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGAAAGACCTGGACCCAGGTA	0.458																																						ENST00000344922.5																			0				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(3322-3324)ctG>ctC		melanoma inhibitory activity family, member 3							80.0	76.0	77.0					1																	222805661		1858	4082	5940	SO:0001819	synonymous_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222805661G>C		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.3324G>C	1.37:g.222805661G>C						MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Silent_p.L1108L|MIA3_ENST00000344507.1_Intron	p.L1108L	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	5	3349	+			1108					A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Silent	SNP	ENST00000344922.5	37	c.3324G>C	CCDS41470.1	.	.	.	.	.	.	.	.	.	.	G	2.313	-0.357353	0.05138	.	.	ENSG00000154305	ENST00000354906	.	.	.	3.81	1.4	0.22301	.	.	.	.	.	T	0.21801	0.0525	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.21381	-1.0247	4	.	.	.	.	2.1813	0.03875	0.5978:0.0:0.1527:0.2495	.	.	.	.	R	691	.	.	G	+	1	0	MIA3	220872284	0.001000	0.12720	0.010000	0.14722	0.080000	0.17528	0.420000	0.21263	0.278000	0.22164	0.557000	0.71058	GGA		0.458	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		8	75	0	0	0	1	0	8	75				
LRRC4C	57689	broad.mit.edu	37	11	40137425	40137425	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:40137425G>A	ENST00000278198.2	-	2	2381	c.418C>T	c.(418-420)Ccg>Tcg	p.P140S	LRRC4C_ENST00000527150.1_Missense_Mutation_p.P140S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P140S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P140S			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	140					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCTCCATTCGGGATGGTAGTA	0.428																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(418-420)Ccg>Tcg		leucine rich repeat containing 4C							68.0	70.0	70.0					11																	40137425		2203	4300	6503	SO:0001583	missense	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40137425G>A	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.418C>T	11.37:g.40137425G>A	ENSP00000278198:p.Pro140Ser					LRRC4C_ENST00000528697.1_Missense_Mutation_p.P140S|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P140S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P140S	p.P140S			Q9HCJ2	LRC4C_HUMAN			2	2381	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	140					A8K0T1|Q7L0N3	Missense_Mutation	SNP	ENST00000278198.2	37	c.418C>T	CCDS31464.1	.	.	.	.	.	.	.	.	.	.	G	18.21	3.572850	0.65765	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.08008	3.14;3.14;3.14;3.14	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.24005	0.0581	L	0.45698	1.435	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.00260	-1.1869	10	0.28530	T	0.3	.	19.0894	0.93221	0.0:0.0:1.0:0.0	.	140	Q9HCJ2	LRC4C_HUMAN	S	140	ENSP00000278198:P140S;ENSP00000436976:P140S;ENSP00000437132:P140S;ENSP00000434761:P140S	ENSP00000278198:P140S	P	-	1	0	LRRC4C	40094001	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	9.813000	0.99286	2.754000	0.94517	0.650000	0.86243	CCG		0.428	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		12	39	0	0	0	1	0	12	39				
ALKBH2	121642	broad.mit.edu	37	12	109526259	109526259	+	Missense_Mutation	SNP	G	G	A	rs140769082		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr12:109526259G>A	ENST00000429722.2	-	4	901	c.538C>T	c.(538-540)Cct>Tct	p.P180S	ALKBH2_ENST00000440112.2_Silent_p.P113P|ALKBH2_ENST00000343075.3_Missense_Mutation_p.P180S	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN	alkB, alkylation repair homolog 2 (E. coli)	180	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				DNA dealkylation involved in DNA repair (GO:0006307)|DNA demethylation (GO:0080111)|DNA repair (GO:0006281)|oxidative demethylation (GO:0070989)|oxidative DNA demethylation (GO:0035511)	nucleoplasm (GO:0005654)	cytosine C-5 DNA demethylase activity (GO:0051747)|DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)			endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8					Vitamin C(DB00126)	GGGCTCCCAGGGGCCAGTTCT	0.537								Direct reversal of damage																														ENST00000429722.2																			0				endometrium(1)|kidney(3)|large_intestine(1)|lung(3)	8						c.(538-540)Cct>Tct	Direct reversal of damage	alkB, alkylation repair homolog 2 (E. coli)	Vitamin C(DB00126)	G	SER/PRO,SER/PRO,SER/PRO,,	1,4405	2.1+/-5.4	0,1,2202	81.0	91.0	88.0		538,538,538,339,339	4.9	0.1	12	dbSNP_134	88	0,8600		0,0,4300	no	missense,missense,missense,coding-synonymous,coding-synonymous	ALKBH2	NM_001001655.2,NM_001145374.1,NM_001145375.1,NM_001205179.1,NM_001205180.1	74,74,74,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,,	180/262,180/262,180/262,113/158,113/158	109526259	1,13005	2203	4300	6503	SO:0001583	missense	121642				DNA dealkylation involved in DNA repair|oxidative DNA demethylation	nucleoplasm	cytosine C-5 DNA demethylase activity|damaged DNA binding|DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr12:109526259G>A	AY754389	CCDS31897.1, CCDS55883.1	12q24.11	2008-04-24			ENSG00000189046	ENSG00000189046		"""Alkylation repair homologs"""	32487	protein-coding gene	gene with protein product		610602					Standard	NM_001145374		Approved	MGC90512, ABH2	uc010sxj.1	Q6NS38	OTTHUMG00000169246	ENST00000429722.2:c.538C>T	12.37:g.109526259G>A	ENSP00000398181:p.Pro180Ser					ALKBH2_ENST00000343075.3_Missense_Mutation_p.P180S|ALKBH2_ENST00000440112.2_Silent_p.P113P	p.P180S	NM_001145374.1	NP_001138846.1	Q6NS38	ALKB2_HUMAN			4	901	-			180			Fe2OG dioxygenase.		A4PET2|Q5XLE3	Missense_Mutation	SNP	ENST00000429722.2	37	c.538C>T	CCDS31897.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.996278	0.54147	2.27E-4	0.0	ENSG00000189046	ENST00000429722;ENST00000343075;ENST00000435370	T;T	0.11385	2.78;2.78	5.8	4.89	0.63831	Oxoglutarate/iron-dependent oxygenase (2);	0.148613	0.64402	D	0.000008	T	0.11665	0.0284	.	.	.	0.80722	D	1	B	0.24368	0.102	B	0.28232	0.087	T	0.07481	-1.0770	9	0.31617	T	0.26	-15.6171	15.9016	0.79380	0.0:0.1354:0.8646:0.0	.	180	Q6NS38	ALKB2_HUMAN	S	180	ENSP00000398181:P180S;ENSP00000343021:P180S	ENSP00000343021:P180S	P	-	1	0	ALKBH2	108010642	1.000000	0.71417	0.106000	0.21319	0.967000	0.64934	7.122000	0.77169	1.410000	0.46936	0.655000	0.94253	CCT		0.537	ALKBH2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403063.2	NM_001001655		44	70	0	0	0	1	0	44	70				
OR5B3	441608	broad.mit.edu	37	11	58170679	58170679	+	Missense_Mutation	SNP	G	G	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:58170679G>T	ENST00000309403.2	-	1	203	c.204C>A	c.(202-204)gaC>gaA	p.D68E		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AGTAGCAAAAGTCCACTAGAG	0.413																																						ENST00000309403.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34						c.(202-204)gaC>gaA		olfactory receptor, family 5, subfamily B, member 3							89.0	86.0	87.0					11																	58170679		2201	4295	6496	SO:0001583	missense	441608				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58170679G>T	AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.204C>A	11.37:g.58170679G>T	ENSP00000308270:p.Asp68Glu						p.D68E	NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN			1	203	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	68					Q6IEV6	Missense_Mutation	SNP	ENST00000309403.2	37	c.204C>A	CCDS31549.1	.	.	.	.	.	.	.	.	.	.	g	13.36	2.214315	0.39102	.	.	ENSG00000172769	ENST00000309403	T	0.01152	5.26	4.19	-3.08	0.05347	GPCR, rhodopsin-like superfamily (1);	0.000000	0.49916	D	0.000121	T	0.03136	0.0092	L	0.46885	1.475	0.09310	N	0.999997	D	0.76494	0.999	D	0.74348	0.983	T	0.04440	-1.0951	10	0.87932	D	0	-55.2716	11.6887	0.51503	0.3207:0.0:0.6793:0.0	.	68	Q8NH48	OR5B3_HUMAN	E	68	ENSP00000308270:D68E	ENSP00000308270:D68E	D	-	3	2	OR5B3	57927255	0.000000	0.05858	0.170000	0.22879	0.444000	0.32077	-1.573000	0.02134	-0.463000	0.06973	0.585000	0.79938	GAC		0.413	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394886.1	NM_001005469		44	74	1	0	4.01765e-15	1	4.53846e-15	44	74				
PTCHD4	442213	broad.mit.edu	37	6	48036204	48036204	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:48036204C>T	ENST00000339488.4	-	1	221	c.188G>A	c.(187-189)cGc>cAc	p.R63H	PTCHD4_ENST00000543600.1_Missense_Mutation_p.R46H	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	63						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										GGGCTGGAAGCGGTTGAGCGC	0.667																																						ENST00000543600.1																			0											c.(136-138)cGc>cAc		patched domain containing 4							28.0	32.0	31.0					6																	48036204		1985	4170	6155	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:48036204C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.188G>A	6.37:g.48036204C>T	ENSP00000341914:p.Arg63His					PTCHD4_ENST00000339488.4_Missense_Mutation_p.R63H	p.R46H			Q6ZW05	CF138_HUMAN			1	176	-			63					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.137G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	19.51	3.842007	0.71488	.	.	ENSG00000244694	ENST00000339488;ENST00000543600	D;T	0.92299	-3.01;0.63	4.56	4.56	0.56223	.	0.065455	0.56097	D	0.000031	D	0.92612	0.7653	L	0.54323	1.7	0.80722	D	1	B;D	0.76494	0.291;0.999	B;D	0.73380	0.049;0.98	D	0.90487	0.4464	10	0.15066	T	0.55	.	17.3669	0.87366	0.0:1.0:0.0:0.0	.	63;46	Q6ZW05;B0QZ29	CF138_HUMAN;.	H	63;46	ENSP00000341914:R63H;ENSP00000439864:R46H	ENSP00000341914:R63H	R	-	2	0	C6orf138	48144163	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.683000	0.68189	2.071000	0.62044	0.545000	0.68477	CGC		0.667	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		16	27	0	0	0	1	0	16	27				
SGTA	6449	broad.mit.edu	37	19	2769012	2769012	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:2769012G>A	ENST00000221566.2	-	2	216	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	19					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGTGCCGGAGCTGGTCATGC	0.637																																						ENST00000221566.2																			0				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						c.(55-57)Ctc>Ttc		small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha							79.0	85.0	83.0					19																	2769012		2203	4300	6503	SO:0001583	missense	6449				interspecies interaction between organisms	cytoplasm	protein binding	g.chr19:2769012G>A	AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.55C>T	19.37:g.2769012G>A	ENSP00000221566:p.Leu19Phe						p.L19F	NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	216	-		Hepatocellular(1079;0.137)	19					D6W610|Q6FIA9|Q9BTZ9	Missense_Mutation	SNP	ENST00000221566.2	37	c.55C>T	CCDS12094.1	.	.	.	.	.	.	.	.	.	.	G	11.14	1.551134	0.27739	.	.	ENSG00000104969	ENST00000221566	T	0.38560	1.13	4.71	4.71	0.59529	.	0.068863	0.64402	D	0.000019	T	0.44180	0.1281	M	0.81341	2.54	0.46478	D	0.99906	B	0.20671	0.047	B	0.20577	0.03	T	0.47995	-0.9073	10	0.51188	T	0.08	-7.8158	8.9184	0.35596	0.1029:0.0:0.8971:0.0	.	19	O43765	SGTA_HUMAN	F	19	ENSP00000221566:L19F	ENSP00000221566:L19F	L	-	1	0	SGTA	2720012	1.000000	0.71417	0.997000	0.53966	0.432000	0.31715	3.918000	0.56432	2.165000	0.68154	0.491000	0.48974	CTC		0.637	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451448.2	NM_003021		42	56	0	0	0	1	0	42	56				
SRFBP1	153443	broad.mit.edu	37	5	121356219	121356219	+	Missense_Mutation	SNP	T	T	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:121356219T>A	ENST00000339397.4	+	6	861	c.789T>A	c.(787-789)gaT>gaA	p.D263E		NM_152546.2	NP_689759.2			serum response factor binding protein 1											central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)		ATTTTGATGATAGCACAGAAG	0.408																																						ENST00000339397.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|skin(1)	15						c.(787-789)gaT>gaA		serum response factor binding protein 1							131.0	118.0	122.0					5																	121356219		1873	4123	5996	SO:0001583	missense	153443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	perinuclear region of cytoplasm		g.chr5:121356219T>A	AK058015	CCDS43354.1	5q23.1	2006-12-21				ENSG00000151304			26333	protein-coding gene	gene with protein product	"""BUD22 homolog (S. cerevisiae)"""	610479				15492011	Standard	NM_152546		Approved	FLJ25286, p49, STRAP, BUD22, Rlb1	uc003kst.1	Q8NEF9		ENST00000339397.4:c.789T>A	5.37:g.121356219T>A	ENSP00000341324:p.Asp263Glu						p.D263E	NM_152546.2	NP_689759.2	Q8NEF9	SRFB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000227)|Epithelial(69;0.000365)|all cancers(49;0.00517)	6	861	+		all_cancers(142;0.0124)|Prostate(80;0.0322)	263						Missense_Mutation	SNP	ENST00000339397.4	37	c.789T>A	CCDS43354.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.629775	0.87660	.	.	ENSG00000151304	ENST00000339397	.	.	.	5.71	-3.39	0.04868	.	0.000000	0.85682	D	0.000000	T	0.74786	0.3762	M	0.75777	2.31	0.47659	D	0.999488	D	0.76494	0.999	D	0.85130	0.997	T	0.77950	-0.2395	9	0.87932	D	0	-24.333	15.3076	0.74004	0.0:0.6256:0.0:0.3744	.	263	Q8NEF9	SRFB1_HUMAN	E	263	.	ENSP00000341324:D263E	D	+	3	2	SRFBP1	121384118	0.956000	0.32656	0.992000	0.48379	0.971000	0.66376	0.078000	0.14761	-0.362000	0.08113	0.460000	0.39030	GAT		0.408	SRFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371200.1	NM_152546		42	74	0	0	0	1	0	42	74				
SYCP2	10388	broad.mit.edu	37	20	58467116	58467116	+	Nonsense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr20:58467116G>A	ENST00000357552.3	-	24	2518	c.2293C>T	c.(2293-2295)Caa>Taa	p.Q765*	SYCP2_ENST00000371001.2_Nonsense_Mutation_p.Q765*			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	765					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTATGACTTTGCACATTTTTG	0.338																																						ENST00000357552.3																			0				NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(2293-2295)Caa>Taa		synaptonemal complex protein 2							102.0	97.0	99.0					20																	58467116		2203	4299	6502	SO:0001587	stop_gained	10388				cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	g.chr20:58467116G>A	Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2293C>T	20.37:g.58467116G>A	ENSP00000350162:p.Gln765*					SYCP2_ENST00000371001.2_Nonsense_Mutation_p.Q765*	p.Q765*			Q9BX26	SYCP2_HUMAN	BRCA - Breast invasive adenocarcinoma(7;1.19e-09)		24	2518	-	all_lung(29;0.00344)		765					A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Nonsense_Mutation	SNP	ENST00000357552.3	37	c.2293C>T	CCDS13482.1	.	.	.	.	.	.	.	.	.	.	G	33	5.220215	0.95139	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	.	.	.	5.32	1.67	0.24075	.	0.692004	0.14561	N	0.312059	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9262	5.4721	0.16676	0.0:0.0914:0.3564:0.5521	.	.	.	.	X	765	.	ENSP00000350162:Q765X	Q	-	1	0	SYCP2	57900511	0.000000	0.05858	0.000000	0.03702	0.140000	0.21249	-0.135000	0.10420	0.384000	0.24942	-0.362000	0.07510	CAA		0.338	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079930.3	NM_014258		17	21	0	0	0	1	0	17	21				
PKHD1L1	93035	broad.mit.edu	37	8	110396299	110396299	+	Splice_Site	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:110396299G>A	ENST00000378402.5	+	5	522	c.418G>A	c.(418-420)Gca>Aca	p.A140T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	140					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTTTTTACAGGCAAAAAGTTT	0.289										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.e5-1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							117.0	116.0	117.0					8																	110396299		1803	4063	5866	SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110396299G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.418-1G>A	8.37:g.110396299G>A		HNSCC(38;0.096)					p.A140_splice	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		5	522	+			140					Q567P2|Q9UF27	Splice_Site	SNP	ENST00000378402.5	37	c.417_splice	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	5.808	0.333461	0.11013	.	.	ENSG00000205038	ENST00000378402	D	0.85484	-1.99	5.95	2.18	0.27775	Immunoglobulin-like fold (1);	0.385320	0.25636	N	0.029315	T	0.71134	0.3304	N	0.17674	0.51	0.26515	N	0.974523	B	0.06786	0.001	B	0.09377	0.004	T	0.55379	-0.8150	9	.	.	.	.	9.5911	0.39545	0.3248:0.0:0.6752:0.0	.	140	Q86WI1	PKHL1_HUMAN	T	140	ENSP00000367655:A140T	.	A	+	1	0	PKHD1L1	110465475	0.980000	0.34600	1.000000	0.80357	0.317000	0.28152	0.353000	0.20130	0.602000	0.29896	0.650000	0.86243	GCA		0.289	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Missense_Mutation	4	171	0	0	0	1	0	4	171				
NDST1	3340	broad.mit.edu	37	5	149922490	149922490	+	Missense_Mutation	SNP	A	A	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:149922490A>G	ENST00000261797.6	+	10	2429	c.1927A>G	c.(1927-1929)Atc>Gtc	p.I643V	snoU13_ENST00000459561.1_RNA|NDST1_ENST00000523767.1_Missense_Mutation_p.I643V	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	643	Heparan sulfate N-sulfotransferase 1.				carbohydrate metabolic process (GO:0005975)|embryonic neurocranium morphogenesis (GO:0048702)|embryonic viscerocranium morphogenesis (GO:0048703)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparin biosynthetic process (GO:0030210)|inflammatory response (GO:0006954)|MAPK cascade (GO:0000165)|midbrain development (GO:0030901)|polysaccharide biosynthetic process (GO:0000271)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine N-sulfotransferase activity (GO:0015016)|deacetylase activity (GO:0019213)			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTGAGGAGATCCAGTTTTT	0.577																																						ENST00000261797.6																			0				breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1927-1929)Atc>Gtc		N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1							196.0	192.0	193.0					5																	149922490		2203	4300	6503	SO:0001583	missense	3340				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	g.chr5:149922490A>G	U18918	CCDS34277.1, CCDS75358.1	5q33.1	2008-02-05				ENSG00000070614		"""Sulfotransferases, membrane-bound"""	7680	protein-coding gene	gene with protein product		600853		HSST		7601448, 9230113	Standard	NM_001543		Approved	NST1	uc003lsk.4	P52848		ENST00000261797.6:c.1927A>G	5.37:g.149922490A>G	ENSP00000261797:p.Ile643Val					NDST1_ENST00000523767.1_Missense_Mutation_p.I643V	p.I643V	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		10	2429	+		all_hematologic(541;0.224)	643			Heparan sulfate N-sulfotransferase 1.		Q96E57	Missense_Mutation	SNP	ENST00000261797.6	37	c.1927A>G	CCDS34277.1	.	.	.	.	.	.	.	.	.	.	A	6.894	0.534537	0.13188	.	.	ENSG00000070614	ENST00000523767;ENST00000261797	T;T	0.53857	0.6;0.6	5.24	5.24	0.73138	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.28267	0.0698	N	0.04116	-0.275	0.54753	D	0.999985	B;B	0.12013	0.005;0.004	B;B	0.18871	0.023;0.014	T	0.21999	-1.0229	10	0.02654	T	1	.	15.4462	0.75232	1.0:0.0:0.0:0.0	.	643;643	E7EVJ3;P52848	.;NDST1_HUMAN	V	643	ENSP00000428604:I643V;ENSP00000261797:I643V	ENSP00000261797:I643V	I	+	1	0	NDST1	149902683	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.318000	0.72866	2.104000	0.64026	0.383000	0.25322	ATC		0.577	NDST1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374314.2	NM_001543		5	239	0	0	0	1	0	5	239				
LY6K	54742	broad.mit.edu	37	8	143784549	143784549	+	Silent	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:143784549C>T	ENST00000292430.6	+	3	675	c.258C>T	c.(256-258)tcC>tcT	p.S86S	CTD-2292P10.4_ENST00000520572.1_RNA|LY6K_ENST00000519387.1_Missense_Mutation_p.R76C|LY6K_ENST00000561179.1_Silent_p.S144S|LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000519390.1_3'UTR			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	86	UPAR/Ly6.					anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGCAGTGCTCCGCTGGTTGTG	0.483																																						ENST00000519387.1																			0				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10						c.(226-228)Cgc>Tgc		lymphocyte antigen 6 complex, locus K							68.0	65.0	66.0					8																	143784549		2203	4300	6503	SO:0001819	synonymous_variant	54742					anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane		g.chr8:143784549C>T	AK092545	CCDS6385.1, CCDS6385.2, CCDS59114.1	8q24.3	2009-08-06				ENSG00000160886			24225	protein-coding gene	gene with protein product	"""cancer/testis antigen 97"""	615093				12516096	Standard	NM_017527		Approved	HSJ001348, FLJ35226, CT97	uc011ljv.2	Q17RY6		ENST00000292430.6:c.258C>T	8.37:g.143784549C>T						LY6K_ENST00000561179.1_Silent_p.S144S|LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000292430.6_Silent_p.S86S|LY6K_ENST00000522591.1_3'UTR|CTD-2292P10.4_ENST00000520572.1_RNA	p.R76C			Q17RY6	LY6K_HUMAN			3	640	+	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		0			UPAR/Ly6.		G3V116|O15227|Q9BVD7	Missense_Mutation	SNP	ENST00000292430.6	37	c.226C>T	CCDS6385.2	.	.	.	.	.	.	.	.	.	.	C	4.607	0.112890	0.08831	.	.	ENSG00000160886	ENST00000519387	.	.	.	3.16	-6.32	0.01995	.	.	.	.	.	T	0.24812	0.0602	.	.	.	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.16958	-1.0385	7	0.87932	D	0	.	1.971	0.03406	0.2287:0.2644:0.3541:0.1527	.	134	G3V116	.	C	134	.	ENSP00000429695:R134C	R	+	1	0	LY6K	143781551	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.941000	0.00329	-3.179000	0.00223	-2.275000	0.00273	CGC		0.483	LY6K-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379893.2	NM_017527		4	121	0	0	0	1	0	4	121				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				SIRPB1_ENST00000381596.1_5'Flank|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		5	44	0	0	0	1	0	5	44				
THAP1	55145	broad.mit.edu	37	8	42693430	42693430	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:42693430G>A	ENST00000254250.3	-	3	547	c.317C>T	c.(316-318)cCg>cTg	p.P106L	THAP1_ENST00000345117.2_Missense_Mutation_p.R41C|THAP1_ENST00000532093.1_5'Flank	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	106	Pro-rich.				cell cycle (GO:0007049)|endothelial cell proliferation (GO:0001935)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AACAGGAGGCGGTAAAGGAGG	0.413																																						ENST00000254250.3																			0				NS(1)|lung(4)|prostate(1)|skin(1)	7						c.(316-318)cCg>cTg		THAP domain containing, apoptosis associated protein 1							118.0	139.0	132.0					8																	42693430		2203	4300	6503	SO:0001583	missense	55145				cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding	g.chr8:42693430G>A	BC021721	CCDS6136.1, CCDS6137.1	8p11.1	2013-01-25			ENSG00000131931	ENSG00000131931		"""THAP (C2CH-type zinc finger) domain containing"""	20856	protein-coding gene	gene with protein product		609520	"""dystonia 6, torsion (autosomal dominant)"""	DYT6		12575992, 12717420, 19182804	Standard	NM_018105		Approved	FLJ10477, 4833431A01Rik	uc003xpk.3	Q9NVV9	OTTHUMG00000165276	ENST00000254250.3:c.317C>T	8.37:g.42693430G>A	ENSP00000254250:p.Pro106Leu					THAP1_ENST00000345117.2_Missense_Mutation_p.R41C	p.P106L	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)		3	547	-	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	106			Pro-rich.		A6NCB6|D3DSY5|H9KV49|Q53FQ1|Q6IA99	Missense_Mutation	SNP	ENST00000254250.3	37	c.317C>T	CCDS6136.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	1.553|1.553	-0.538720|-0.538720	0.04053|0.04053	.|.	.|.	ENSG00000131931|ENSG00000131931	ENST00000254250|ENST00000345117	D|D	0.97850|0.97455	-4.57|-4.39	4.48|4.48	3.59|3.59	0.41128|0.41128	.|.	0.749866|.	0.13400|.	N|.	0.390756|.	D|D	0.95996|0.95996	0.8696|0.8696	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	D|D	0.91833|0.91833	0.5477|0.5477	9|6	0.20046|0.87932	T|D	0.44|0	-6.649|-6.649	7.8624|7.8624	0.29517|0.29517	0.0817:0.0:0.7562:0.1621|0.0817:0.0:0.7562:0.1621	.|.	106|.	Q9NVV9|.	THAP1_HUMAN|.	L|C	106|41	ENSP00000254250:P106L|ENSP00000344966:R41C	ENSP00000254250:P106L|ENSP00000344966:R41C	P|R	-|-	2|1	0|0	THAP1|THAP1	42812587|42812587	0.173000|0.173000	0.23056|0.23056	0.040000|0.040000	0.18447|0.18447	0.073000|0.073000	0.16967|0.16967	1.578000|1.578000	0.36525|0.36525	1.202000|1.202000	0.43218|0.43218	0.585000|0.585000	0.79938|0.79938	CCG|CGC		0.413	THAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383161.1	NM_018105		7	113	0	0	0	1	0	7	113				
MAMSTR	284358	broad.mit.edu	37	19	49217169	49217169	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:49217169G>A	ENST00000318083.6	-	8	920	c.857C>T	c.(856-858)tCa>tTa	p.S286L	MAMSTR_ENST00000356751.4_Missense_Mutation_p.S183L|MAMSTR_ENST00000377367.3_Missense_Mutation_p.S118L|MAMSTR_ENST00000594582.1_Missense_Mutation_p.S118L|MAMSTR_ENST00000419611.1_Missense_Mutation_p.S183L			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	286	Pro-rich.|Transcription activation. {ECO:0000250}.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						CAGAGCCgctgagcccggccc	0.672																																						ENST00000318083.6																			0				endometrium(1)|ovary(1)	2						c.(856-858)tCa>tTa		MEF2 activating motif and SAP domain containing transcriptional regulator							41.0	45.0	44.0					19																	49217169		2202	4300	6502	SO:0001583	missense	284358				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chr19:49217169G>A	AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"""MEF2-activating SAP transcriptional regulator"""	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.857C>T	19.37:g.49217169G>A	ENSP00000324175:p.Ser286Leu					MAMSTR_ENST00000356751.4_Missense_Mutation_p.S183L|MAMSTR_ENST00000377367.3_Missense_Mutation_p.S118L|MAMSTR_ENST00000594582.1_Missense_Mutation_p.S118L|MAMSTR_ENST00000419611.1_Missense_Mutation_p.S183L	p.S286L			Q6ZN01	MASTR_HUMAN			8	920	-			286			Pro-rich.|Transcription activation (By similarity).		B7ZKX4|Q3KQU9|Q8N9Y3	Missense_Mutation	SNP	ENST00000318083.6	37	c.857C>T	CCDS46137.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529148	0.44969	.	.	ENSG00000176909	ENST00000318083;ENST00000419611;ENST00000377367;ENST00000356751	.	.	.	4.77	3.74	0.42951	.	1.377210	0.04718	N	0.418883	T	0.34629	0.0904	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24977	-1.0145	9	0.66056	D	0.02	1.166	9.1096	0.36718	0.0996:0.0:0.9004:0.0	.	286	Q6ZN01	MASTR_HUMAN	L	286;183;118;183	.	ENSP00000324175:S286L	S	-	2	0	MAMSTR	53908981	0.008000	0.16893	0.002000	0.10522	0.009000	0.06853	1.730000	0.38125	1.379000	0.46325	0.549000	0.68633	TCA		0.672	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466179.1	NM_182574		12	81	0	0	0	1	0	12	81				
C9orf3	84909	broad.mit.edu	37	9	97522701	97522701	+	Silent	SNP	T	T	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr9:97522701T>A	ENST00000375315.2	+	1	636	c.636T>A	c.(634-636)gcT>gcA	p.A212A	C9orf3_ENST00000277198.2_Silent_p.A212A|C9orf3_ENST00000297979.5_Silent_p.A212A	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	212					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GCAGCCAGGCTCCTGGCTGTG	0.502																																						ENST00000375315.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(634-636)gcT>gcA		chromosome 9 open reading frame 3							63.0	56.0	58.0					9																	97522701		2203	4300	6503	SO:0001819	synonymous_variant	84909				leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr9:97522701T>A	AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.636T>A	9.37:g.97522701T>A						C9orf3_ENST00000297979.5_Silent_p.A212A|C9orf3_ENST00000277198.2_Silent_p.A212A	p.A212A	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.000275)	1	636	+			212					Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Silent	SNP	ENST00000375315.2	37	c.636T>A	CCDS55328.1																																																																																				0.502	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032823		20	21	0	0	0	1	0	20	21				
MUC16	94025	broad.mit.edu	37	19	9058771	9058771	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:9058771T>C	ENST00000397910.4	-	3	28878	c.28675A>G	c.(28675-28677)Atg>Gtg	p.M9559V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9561	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTGGAAACCATGTTGTCTCTT	0.493																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(28675-28677)Atg>Gtg		mucin 16, cell surface associated							91.0	87.0	88.0					19																	9058771		1952	4137	6089	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058771T>C	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28675A>G	19.37:g.9058771T>C	ENSP00000381008:p.Met9559Val						p.M9559V	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	28878	-			9561			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28675A>G	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	t	3.294	-0.144249	0.06627	.	.	ENSG00000181143	ENST00000397910	T	0.20332	2.08	2.38	-1.44	0.08856	.	.	.	.	.	T	0.08223	0.0205	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.32052	-0.9921	8	0.87932	D	0	.	0.241	0.00192	0.2308:0.1535:0.2357:0.3799	.	9559	B5ME49	.	V	9559	ENSP00000381008:M9559V	ENSP00000381008:M9559V	M	-	1	0	MUC16	8919771	0.000000	0.05858	0.000000	0.03702	0.093000	0.18481	-0.863000	0.04259	-0.429000	0.07329	0.254000	0.18369	ATG		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	16	0	0	0	1	0	11	16				
ACACA	31	broad.mit.edu	37	17	35627723	35627723	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr17:35627723C>A	ENST00000394406.2	-	10	1117	c.927G>T	c.(925-927)atG>atT	p.M309I	ACACA_ENST00000353139.5_Missense_Mutation_p.M346I|ACACA_ENST00000335166.5_Missense_Mutation_p.M231I|ACACA_ENST00000360679.3_Missense_Mutation_p.M251I	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	309	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AGGCCTTGATCATTACTGGAT	0.393																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	ENST00000353139.5																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(1036-1038)atG>atT		acetyl-CoA carboxylase alpha	Biotin(DB00121)						222.0	213.0	216.0					17																	35627723		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35627723C>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.927G>T	17.37:g.35627723C>A	ENSP00000377928:p.Met309Ile					ACACA_ENST00000394406.2_Missense_Mutation_p.M309I|ACACA_ENST00000360679.3_Missense_Mutation_p.M251I|ACACA_ENST00000335166.5_Missense_Mutation_p.M231I	p.M346I	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN			10	1519	-		Breast(25;0.00157)|Ovarian(249;0.15)	309			ATP-grasp.|Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.1038G>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	C	34	5.318973	0.95682	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066	D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84	5.56	5.56	0.83823	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (2);Biotin carboxylation domain (1);	0.000000	0.85682	D	0.000000	D	0.97081	0.9046	L	0.55481	1.735	0.80722	D	1	P;D;D	0.76494	0.694;0.999;0.999	B;D;D	0.79784	0.328;0.993;0.973	D	0.97256	0.9901	10	0.59425	D	0.04	-20.9179	19.517	0.95169	0.0:1.0:0.0:0.0	.	346;309;251	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	I	346;251;309;333;231;231	ENSP00000344789:M346I;ENSP00000353898:M251I;ENSP00000377928:M309I;ENSP00000335323:M231I	ENSP00000335323:M231I	M	-	3	0	ACACA	32701836	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.079000	0.71291	2.618000	0.88619	0.585000	0.79938	ATG		0.393	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836		4	150	1	0	1	1	1	4	150				
EFCAB7	84455	broad.mit.edu	37	1	63999809	63999809	+	Missense_Mutation	SNP	A	A	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:63999809A>T	ENST00000371088.4	+	6	972	c.726A>T	c.(724-726)aaA>aaT	p.K242N	RNU7-123P_ENST00000515911.1_RNA	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	242							calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						GGAAGTTCAAAACATCTGTTT	0.363																																						ENST00000371088.4																			0				breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(724-726)aaA>aaT		EF-hand calcium binding domain 7							115.0	112.0	113.0					1																	63999809		2203	4300	6503	SO:0001583	missense	84455						calcium ion binding	g.chr1:63999809A>T	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.726A>T	1.37:g.63999809A>T	ENSP00000360129:p.Lys242Asn						p.K242N	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			6	972	+			242					Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.726A>T	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	A	13.18	2.159941	0.38119	.	.	ENSG00000203965	ENST00000371088	T	0.62364	0.03	5.65	4.49	0.54785	.	0.093898	0.64402	D	0.000001	T	0.43122	0.1233	L	0.56769	1.78	0.80722	D	1	P	0.38922	0.651	B	0.38428	0.273	T	0.46484	-0.9188	10	0.51188	T	0.08	-18.4101	9.8132	0.40835	0.9211:0.0:0.0789:0.0	.	242	A8K855	EFCB7_HUMAN	N	242	ENSP00000360129:K242N	ENSP00000360129:K242N	K	+	3	2	EFCAB7	63772397	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	4.285000	0.58989	0.925000	0.37094	0.533000	0.62120	AAA		0.363	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		17	58	0	0	0	1	0	17	58				
ARFGAP3	26286	broad.mit.edu	37	22	43203169	43203169	+	Splice_Site	SNP	A	A	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr22:43203169A>G	ENST00000263245.5	-	14	1540	c.1321T>C	c.(1321-1323)Tat>Cat	p.Y441H	ARFGAP3_ENST00000429508.2_Splice_Site_p.Y369H|ARFGAP3_ENST00000437119.2_Splice_Site_p.Y397H	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	441					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CTGGTCTCATACTAGAGAAGA	0.512																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.e14-1		ADP-ribosylation factor GTPase activating protein 3							30.0	29.0	29.0					22																	43203169		2203	4299	6502	SO:0001630	splice_region_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43203169A>G	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.1321-1T>C	22.37:g.43203169A>G						ARFGAP3_ENST00000429508.2_Splice_Site_p.Y369_splice|ARFGAP3_ENST00000437119.2_Splice_Site_p.Y397_splice	p.Y441_splice	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			14	1540	-			441					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Splice_Site	SNP	ENST00000263245.5	37	c.1320_splice	CCDS14042.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.05|16.05	3.014123|3.014123	0.54468|0.54468	.|.	.|.	ENSG00000242247|ENSG00000242247	ENST00000453516|ENST00000263245;ENST00000429508;ENST00000437119	.|T;T;T	.|0.06294	.|3.48;3.32;3.43	4.83|4.83	4.83|4.83	0.62350|0.62350	.|.	.|0.245144	.|0.35677	.|N	.|0.003050	T|T	0.13543|0.13543	0.0328|0.0328	M|M	0.80422|0.80422	2.495|2.495	0.48087|0.48087	D|D	0.999582|0.999582	.|P;P	.|0.47604	.|0.513;0.898	.|B;P	.|0.44447	.|0.182;0.45	T|T	0.01574|0.01574	-1.1321|-1.1321	5|10	.|0.52906	.|T	.|0.07	-25.5876|-25.5876	12.3434|12.3434	0.55107|0.55107	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|397;441	.|E9PB03;Q9NP61	.|.;ARFG3_HUMAN	S|H	243|441;369;397	.|ENSP00000263245:Y441H;ENSP00000393959:Y369H;ENSP00000388791:Y397H	.|ENSP00000263245:Y441H	L|Y	-|-	2|1	0|0	ARFGAP3|ARFGAP3	41533113|41533113	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.165000|0.165000	0.22458|0.22458	7.663000|7.663000	0.83820|0.83820	1.797000|1.797000	0.52628|0.52628	0.528000|0.528000	0.53228|0.53228	TTA|TAT		0.512	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570	Missense_Mutation	7	8	0	0	0	1	0	7	8				
CD34	947	broad.mit.edu	37	1	208062820	208062820	+	Silent	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:208062820G>A	ENST00000310833.7	-	5	1065	c.744C>T	c.(742-744)gcC>gcT	p.A248A	CD34_ENST00000537704.1_Silent_p.A113A|CD34_ENST00000367036.3_Silent_p.A90A|CD34_ENST00000485761.1_5'UTR|CD34_ENST00000356522.4_Silent_p.A248A	NM_001025109.1	NP_001020280.1	P28906	CD34_HUMAN	CD34 molecule	248					cell motility (GO:0048870)|cell proliferation (GO:0008283)|endothelial cell proliferation (GO:0001935)|endothelium development (GO:0003158)|extracellular vesicular exosome assembly (GO:0071971)|glomerular endothelium development (GO:0072011)|glomerular filtration (GO:0003094)|glutamate metabolic process (GO:0006536)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|leukocyte migration (GO:0050900)|mesangial cell-matrix adhesion (GO:0035759)|metanephric glomerular mesangial cell differentiation (GO:0072254)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cellular response to heat (GO:1900035)|negative regulation of cellular response to hypoxia (GO:1900038)|negative regulation of gene expression (GO:0010629)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of neuron death (GO:1901215)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of tumor necrosis factor production (GO:0032720)|paracrine signaling (GO:0038001)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|positive regulation of glial cell line-derived neurotrophic factor secretion (GO:1900168)|positive regulation of granulocyte colony-stimulating factor production (GO:0071657)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of odontogenesis (GO:0042482)|positive regulation of transforming growth factor beta production (GO:0071636)|positive regulation of vasculogenesis (GO:2001214)|regulation of blood pressure (GO:0008217)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|stem cell proliferation (GO:0072089)|tissue homeostasis (GO:0001894)|transdifferentiation (GO:0060290)|vascular wound healing (GO:0061042)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|glomerular endothelium fenestra (GO:0036053)|integral component of plasma membrane (GO:0005887)|intercellular bridge (GO:0045171)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|sulfate binding (GO:0043199)|transcription factor binding (GO:0008134)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						CTGTTCTGTTGGCCAAGACCA	0.592																																						ENST00000356522.4																			0				kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						c.(742-744)gcC>gcT		CD34 molecule							63.0	57.0	59.0					1																	208062820		2203	4300	6503	SO:0001819	synonymous_variant	947				cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding	g.chr1:208062820G>A	M81104	CCDS31011.1, CCDS31012.1	1q32	2008-02-05	2006-03-28		ENSG00000174059	ENSG00000174059		"""CD molecules"""	1662	protein-coding gene	gene with protein product		142230	"""CD34 antigen"""			1370171, 1374051	Standard	NM_001025109		Approved		uc001hgw.1	P28906	OTTHUMG00000036565	ENST00000310833.7:c.744C>T	1.37:g.208062820G>A						CD34_ENST00000485761.1_5'UTR|CD34_ENST00000537704.1_Silent_p.A113A|CD34_ENST00000367036.3_Silent_p.A90A|CD34_ENST00000310833.7_Silent_p.A248A	p.A248A	NM_001773.2	NP_001764.1	P28906	CD34_HUMAN			5	1065	-			248					A8K664|Q15970|Q15971|Q5JTA3|Q5JTA4|Q9UJB1	Silent	SNP	ENST00000310833.7	37	c.744C>T	CCDS31011.1																																																																																				0.592	CD34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088933.1	NM_001773		8	8	0	0	0	1	0	8	8				
CNTNAP3B	728577	broad.mit.edu	37	9	43816735	43816735	+	Missense_Mutation	SNP	G	G	C	rs200986004	byFrequency	TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr9:43816735G>C	ENST00000377564.3	+	6	1234	c.841G>C	c.(841-843)Gac>Cac	p.D281H	CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.D281H	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	281	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CGAGCTCCTCGACACGCAGGT	0.488													g|||	100	0.0199681	0.0166	0.0101	5008	,	,		22562	0.0466		0.008	False		,,,				2504	0.0164					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(841-843)Gac>Cac		contactin associated protein-like 3B																																				SO:0001583	missense	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43816735G>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.841G>C	9.37:g.43816735G>C	ENSP00000366787:p.Asp281His					CNTNAP3B_ENST00000276974.6_Missense_Mutation_p.D281H	p.D281H	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			6	1234	+			281			Laminin G-like 1.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.841G>C	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	g	14.89	2.671567	0.47781	.	.	ENSG00000154529	ENST00000377564;ENST00000276974;ENST00000341990;ENST00000403166	T;T	0.78246	-1.16;-1.16	2.77	-4.35	0.03656	.	.	.	.	.	T	0.60907	0.2305	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.56492	-0.7970	7	0.62326	D	0.03	.	8.1029	0.30868	0.5769:0.0:0.4231:0.0	.	.	.	.	H	281	ENSP00000366787:D281H;ENSP00000276974:D281H	ENSP00000276974:D281H	D	+	1	0	CNTNAP3B	43756731	0.000000	0.05858	0.000000	0.03702	0.466000	0.32739	0.894000	0.28350	-0.920000	0.03799	-0.506000	0.04501	GAC		0.488	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			5	46	0	0	0	1	0	5	46				
COL4A1	1282	broad.mit.edu	37	13	110833688	110833688	+	Missense_Mutation	SNP	C	C	T	rs199573161		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr13:110833688C>T	ENST00000375820.4	-	29	2265	c.2144G>A	c.(2143-2145)cGc>cAc	p.R715H		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	715	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAATCCCGGGCGACCTGGAGT	0.498																																						ENST00000375820.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(2143-2145)cGc>cAc		collagen, type IV, alpha 1		C	HIS/ARG	0,4406		0,0,2203	51.0	50.0	50.0		2144	5.1	1.0	13		50	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL4A1	NM_001845.4	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	715/1670	110833688	1,13005	2203	4300	6503	SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110833688C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.2144G>A	13.37:g.110833688C>T	ENSP00000364979:p.Arg715His						p.R715H	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		29	2265	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	715			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.2144G>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	12.57	1.977242	0.34848	0.0	1.16E-4	ENSG00000187498	ENST00000375820	T	0.46819	0.86	5.1	5.1	0.69264	.	0.378976	0.27366	N	0.019684	T	0.44117	0.1278	L	0.58354	1.805	0.80722	D	1	P	0.42456	0.78	B	0.39339	0.297	T	0.42899	-0.9424	10	0.45353	T	0.12	.	11.7206	0.51680	0.0:0.8226:0.1774:0.0	.	715	P02462	CO4A1_HUMAN	H	715	ENSP00000364979:R715H	ENSP00000364979:R715H	R	-	2	0	COL4A1	109631689	0.997000	0.39634	0.996000	0.52242	0.171000	0.22731	2.114000	0.41911	2.652000	0.90054	0.655000	0.94253	CGC		0.498	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3			18	15	0	0	0	1	0	18	15				
RAD51AP2	729475	broad.mit.edu	37	2	17699517	17699517	+	Missense_Mutation	SNP	G	G	A	rs549850726		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:17699517G>A	ENST00000399080.2	-	1	189	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	56										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCAGACAAGCGAGGCACCAGA	0.552																																						ENST00000399080.2																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(166-168)Cgc>Tgc		RAD51 associated protein 2							74.0	78.0	76.0					2																	17699517		1901	4105	6006	SO:0001583	missense	729475							g.chr2:17699517G>A	AK310498	CCDS42656.1	2p24.2	2009-01-13			ENSG00000214842	ENSG00000214842			34417	protein-coding gene	gene with protein product						16990250	Standard	NM_001099218		Approved	FLJ17540	uc002rcl.1	Q09MP3	OTTHUMG00000151761	ENST00000399080.2:c.166C>T	2.37:g.17699517G>A	ENSP00000382030:p.Arg56Cys						p.R56C	NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN			1	189	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		56						Missense_Mutation	SNP	ENST00000399080.2	37	c.166C>T	CCDS42656.1	.	.	.	.	.	.	.	.	.	.	G	9.141	1.013849	0.19277	.	.	ENSG00000214842	ENST00000399080	T	0.38560	1.13	3.52	2.64	0.31445	.	.	.	.	.	T	0.21841	0.0526	N	0.17082	0.46	0.33328	D	0.56821	P	0.36599	0.56	B	0.27262	0.078	T	0.33471	-0.9867	9	0.87932	D	0	0.1839	6.9284	0.24428	0.1264:0.0:0.8736:0.0	.	56	Q09MP3	R51A2_HUMAN	C	56	ENSP00000382030:R56C	ENSP00000382030:R56C	R	-	1	0	RAD51AP2	17562998	1.000000	0.71417	0.998000	0.56505	0.138000	0.21146	1.494000	0.35616	1.065000	0.40693	0.591000	0.81541	CGC		0.552	RAD51AP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323801.3	NM_001099218		8	102	0	0	0	1	0	8	102				
SNRPD2	6633	broad.mit.edu	37	19	46191769	46191769	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:46191769C>G	ENST00000342669.3	-	2	502	c.58G>C	c.(58-60)Gag>Cag	p.E20Q	SNRPD2_ENST00000588301.1_Missense_Mutation_p.E20Q|SNRPD2_ENST00000585392.1_Intron|SNRPD2_ENST00000590212.1_Missense_Mutation_p.E20Q|SNRPD2_ENST00000587367.1_Missense_Mutation_p.E10Q|SNRPD2_ENST00000391932.3_Missense_Mutation_p.E10Q|SNRPD2_ENST00000588599.1_Missense_Mutation_p.E10Q	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	20					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)|spliceosomal snRNP assembly (GO:0000387)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)	poly(A) RNA binding (GO:0044822)			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		TCCTCCTCCTCTCGCTTCTGC	0.502																																						ENST00000342669.3																			0				breast(1)|large_intestine(1)|lung(2)	4						c.(58-60)Gag>Cag		small nuclear ribonucleoprotein D2 polypeptide 16.5kDa							216.0	169.0	185.0					19																	46191769		2203	4300	6503	SO:0001583	missense	6633				ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding	g.chr19:46191769C>G		CCDS33053.1, CCDS54281.1	19q13.2-q13.3	2011-10-11	2002-08-29		ENSG00000125743	ENSG00000125743			11159	protein-coding gene	gene with protein product	"""snRNP core protein D2"""	601061	"""small nuclear ribonucleoprotein D2 polypeptide (16.5kD)"""	SNRPD1		7527560, 1701240	Standard	NM_004597		Approved	Sm-D2	uc002pcw.3	P62316		ENST00000342669.3:c.58G>C	19.37:g.46191769C>G	ENSP00000342374:p.Glu20Gln					SNRPD2_ENST00000590212.1_Missense_Mutation_p.E20Q|SNRPD2_ENST00000588599.1_Missense_Mutation_p.E10Q|SNRPD2_ENST00000588301.1_Missense_Mutation_p.E20Q|SNRPD2_ENST00000587367.1_Missense_Mutation_p.E10Q|SNRPD2_ENST00000585392.1_Intron|SNRPD2_ENST00000391932.3_Missense_Mutation_p.E10Q	p.E20Q	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)	2	502	-		Ovarian(192;0.051)|all_neural(266;0.112)	20					A8K797|J3KPM5|P43330	Missense_Mutation	SNP	ENST00000342669.3	37	c.58G>C	CCDS33053.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958904	0.92726	.	.	ENSG00000125743	ENST00000342669;ENST00000391932	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.76849	0.4045	M	0.84773	2.715	0.80722	D	1	P	0.51351	0.944	P	0.52758	0.708	T	0.78912	-0.2017	9	0.51188	T	0.08	.	17.6515	0.88165	0.0:1.0:0.0:0.0	.	20	P62316	SMD2_HUMAN	Q	20;10	.	ENSP00000342374:E20Q	E	-	1	0	SNRPD2	50883609	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	7.185000	0.77714	2.767000	0.95098	0.655000	0.94253	GAG		0.502	SNRPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459648.1	NM_004597		45	73	0	0	0	1	0	45	73				
SHANK1	50944	broad.mit.edu	37	19	51172430	51172430	+	Silent	SNP	C	C	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:51172430C>A	ENST00000293441.1	-	22	2805	c.2787G>T	c.(2785-2787)ccG>ccT	p.P929P	SHANK1_ENST00000391813.1_Silent_p.P316P|SHANK1_ENST00000359082.3_Silent_p.P920P|SHANK1_ENST00000391814.1_Silent_p.P937P|SYT3_ENST00000544769.1_5'Flank	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	929					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGGGAGGCTCCGGTGGGGACG	0.672											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(2785-2787)ccG>ccT		SH3 and multiple ankyrin repeat domains 1							24.0	24.0	24.0					19																	51172430		2202	4300	6502	SO:0001819	synonymous_variant	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51172430C>A	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2787G>T	19.37:g.51172430C>A			OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	975	SHANK1_ENST00000391813.1_Silent_p.P316P|SHANK1_ENST00000391814.1_Silent_p.P937P|SHANK1_ENST00000359082.3_Silent_p.P920P	p.P929P	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	22	2805	-		all_neural(266;0.057)	929					A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	ENST00000293441.1	37	c.2787G>T	CCDS12799.1																																																																																				0.672	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		6	11	1	0	0.000157383	1	0.000168428	6	11				
MUC17	140453	broad.mit.edu	37	7	100675730	100675730	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr7:100675730C>T	ENST00000306151.4	+	3	1097	c.1033C>T	c.(1033-1035)Ccg>Tcg	p.P345S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	345	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCATGCCGGTTGCCAC	0.488																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1033-1035)Ccg>Tcg		mucin 17, cell surface associated							180.0	189.0	186.0					7																	100675730		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100675730C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1033C>T	7.37:g.100675730C>T	ENSP00000302716:p.Pro345Ser						p.P345S	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1097	+	Lung NSC(181;0.136)|all_lung(186;0.182)		345			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1033C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.227	-1.024321	0.02061	.	.	ENSG00000169876	ENST00000306151	T	0.03152	4.03	1.21	-2.42	0.06542	.	.	.	.	.	T	0.01905	0.0060	N	0.19112	0.55	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.48456	-0.9034	9	0.08837	T	0.75	.	3.4219	0.07396	0.1843:0.4139:0.0:0.4018	.	345	Q685J3	MUC17_HUMAN	S	345	ENSP00000302716:P345S	ENSP00000302716:P345S	P	+	1	0	MUC17	100462450	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.844000	0.00736	-1.520000	0.01773	-1.216000	0.01612	CCG		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	326	0	0	0	1	0	5	326				
ST3GAL1	6482	broad.mit.edu	37	8	134472099	134472099	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr8:134472099G>A	ENST00000319914.5	-	9	1958	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R311C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R311C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R311C			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	311					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCCGTCTTGCGAAAAGCCCCC	0.562																																						ENST00000319914.5																			0				endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17						c.(931-933)Cgc>Tgc		ST3 beta-galactoside alpha-2,3-sialyltransferase 1							158.0	153.0	154.0					8																	134472099		2203	4300	6503	SO:0001583	missense	6482				protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity	g.chr8:134472099G>A	L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.931C>T	8.37:g.134472099G>A	ENSP00000318445:p.Arg311Cys					ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R311C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R311C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R311C	p.R311C			Q11201	SIA4A_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.00721)		9	1958	-	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		311					O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	c.931C>T	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252694	0.80135	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652	T;T;T;T	0.33438	1.41;1.41;1.41;1.41	4.99	4.09	0.47781	.	0.054641	0.64402	D	0.000001	T	0.59500	0.2198	M	0.87682	2.9	0.80722	D	1	D	0.89917	1.0	D	0.72338	0.977	T	0.68089	-0.5501	10	0.87932	D	0	-24.1544	13.9312	0.63996	0.0:0.0:0.8469:0.1531	.	311	Q11201	SIA4A_HUMAN	C	311	ENSP00000318445:R311C;ENSP00000414073:R311C;ENSP00000428540:R311C;ENSP00000430515:R311C	ENSP00000318445:R311C	R	-	1	0	ST3GAL1	134541281	1.000000	0.71417	0.876000	0.34364	0.619000	0.37552	5.529000	0.67135	1.184000	0.42957	0.561000	0.74099	CGC		0.562	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033		13	386	0	0	0	1	0	13	386				
BACH2	60468	broad.mit.edu	37	6	90660518	90660518	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr6:90660518C>A	ENST00000257749.4	-	7	2014	c.1307G>T	c.(1306-1308)aGc>aTc	p.S436I	BACH2_ENST00000537989.1_Missense_Mutation_p.S436I|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Missense_Mutation_p.S436I|RP3-512E2.2_ENST00000413986.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	436						cytoplasm (GO:0005737)|nucleus (GO:0005634)	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 negative regulation of transcription (GO:0001206)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GTCACAAGCGCTGGAGGAGAA	0.592																																						ENST00000257749.4																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45						c.(1306-1308)aGc>aTc		BTB and CNC homology 1, basic leucine zipper transcription factor 2							38.0	41.0	40.0					6																	90660518		2202	4300	6502	SO:0001583	missense	60468					nucleus	protein dimerization activity|sequence-specific DNA binding	g.chr6:90660518C>A	AL121787	CCDS5026.1	6q15	2013-01-10			ENSG00000112182	ENSG00000112182		"""BTB/POZ domain containing"", ""basic leucine zipper proteins"""	14078	protein-coding gene	gene with protein product		605394				10949928, 12829606	Standard	NM_001170794		Approved	BTBD25	uc003pnw.3	Q9BYV9	OTTHUMG00000015216	ENST00000257749.4:c.1307G>T	6.37:g.90660518C>A	ENSP00000257749:p.Ser436Ile					RP3-512E2.2_ENST00000413986.1_RNA|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000537989.1_Missense_Mutation_p.S436I|BACH2_ENST00000343122.3_Missense_Mutation_p.S436I	p.S436I	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0799)	7	2014	-		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)	436					E1P518|Q59H70|Q5T793|Q9NTS5	Missense_Mutation	SNP	ENST00000257749.4	37	c.1307G>T	CCDS5026.1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186028	0.38609	.	.	ENSG00000112182	ENST00000257749;ENST00000537989;ENST00000343122	T;T;T	0.39229	1.09;1.09;1.09	5.56	5.56	0.83823	.	0.089102	0.85682	D	0.000000	T	0.16471	0.0396	N	0.19112	0.55	0.39728	D	0.971563	P	0.41748	0.761	B	0.38562	0.276	T	0.05194	-1.0900	10	0.51188	T	0.08	-13.6665	10.6146	0.45443	0.0:0.8839:0.0:0.1161	.	436	Q9BYV9	BACH2_HUMAN	I	436	ENSP00000257749:S436I;ENSP00000437473:S436I;ENSP00000345642:S436I	ENSP00000257749:S436I	S	-	2	0	BACH2	90717239	0.992000	0.36948	0.183000	0.23137	0.794000	0.44872	3.527000	0.53517	2.620000	0.88729	0.655000	0.94253	AGC		0.592	BACH2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041522.2	NM_021813		3	41	1	0	0.115264	1	0.117185	3	41				
RELL1	768211	broad.mit.edu	37	4	37640115	37640115	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr4:37640115C>A	ENST00000454158.2	-	4	485	c.397G>T	c.(397-399)Gtc>Ttc	p.V133F	RELL1_ENST00000314117.4_Missense_Mutation_p.V133F	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	133						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						GCCTTTAAGACATCAGCATTC	0.358																																						ENST00000454158.2																			0				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(397-399)Gtc>Ttc		RELT-like 1							103.0	100.0	101.0					4																	37640115		1864	4108	5972	SO:0001583	missense	768211					cytoplasm|integral to membrane|microtubule cytoskeleton|plasma membrane		g.chr4:37640115C>A	AK025431	CCDS43221.1	4p14	2011-10-11				ENSG00000181826			27379	protein-coding gene	gene with protein product		611212				16389068	Standard	NM_001085399		Approved		uc003gsz.2	Q8IUW5		ENST00000454158.2:c.397G>T	4.37:g.37640115C>A	ENSP00000398778:p.Val133Phe					RELL1_ENST00000314117.4_Missense_Mutation_p.V133F	p.V133F	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN			4	485	-			133					Q8NBK1	Missense_Mutation	SNP	ENST00000454158.2	37	c.397G>T	CCDS43221.1	.	.	.	.	.	.	.	.	.	.	C	15.92	2.975527	0.53720	.	.	ENSG00000181826	ENST00000314117;ENST00000454158;ENST00000512114	T;T;T	0.35048	1.33;1.33;1.33	5.92	2.24	0.28232	.	0.325971	0.35903	N	0.002904	T	0.34542	0.0901	L	0.56769	1.78	0.35151	D	0.769752	P	0.41366	0.747	B	0.40782	0.34	T	0.52465	-0.8572	10	0.66056	D	0.02	-10.4688	10.2349	0.43277	0.0:0.7315:0.0:0.2685	.	133	Q8IUW5	RELL1_HUMAN	F	133;133;154	ENSP00000313385:V133F;ENSP00000398778:V133F;ENSP00000424031:V154F	ENSP00000313385:V133F	V	-	1	0	RELL1	37316510	0.997000	0.39634	0.971000	0.41717	0.998000	0.95712	0.359000	0.20233	0.831000	0.34780	0.655000	0.94253	GTC		0.358	RELL1-002	KNOWN	alternative_3_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360485.1	NM_001085400		17	30	1	0	1.56452e-12	1	1.7352e-12	17	30				
PSG4	5672	broad.mit.edu	37	19	43702387	43702387	+	Silent	SNP	A	A	G	rs137963702	byFrequency	TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr19:43702387A>G	ENST00000405312.3	-	3	708	c.471T>C	c.(469-471)aaT>aaC	p.N157N	PSG4_ENST00000433626.2_Intron|PSG4_ENST00000244295.9_Silent_p.N157N	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	157	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CCTCCCTGGGATTTAAGTTGC	0.532													A|||	3	0.000599042	0.0015	0.0	5008	,	,		14437	0.001		0.0	False		,,,				2504	0.0					ENST00000405312.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24						c.(469-471)aaT>aaC		pregnancy specific beta-1-glycoprotein 4		A	,	12,4242		3,6,2118	133.0	152.0	145.0		471,471	-0.4	0.0	19	dbSNP_134	145	0,8542		0,0,4271	no	coding-synonymous,coding-synonymous	PSG4	NM_002780.3,NM_213633.1	,	3,6,6389	GG,GA,AA		0.0,0.2821,0.0938	,	157/420,157/327	43702387	12,12784	2127	4271	6398	SO:0001819	synonymous_variant	5672				defense response|female pregnancy	extracellular region		g.chr19:43702387A>G		CCDS33039.1, CCDS46093.1, CCDS62695.1	19q13.2	2013-01-29			ENSG00000243137	ENSG00000243137		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9521	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1-glycoprotein 4"""	176393				2783133	Standard	NM_002780		Approved		uc002ovy.4	Q00888	OTTHUMG00000151544	ENST00000405312.3:c.471T>C	19.37:g.43702387A>G						PSG4_ENST00000244295.9_Silent_p.N157N|PSG4_ENST00000433626.2_Intron	p.N157N	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN			3	708	-		Prostate(69;0.00682)	157			Ig-like C2-type 1.		E7EX79|Q13047|Q13048|Q15234|Q15240|Q9UQ76	Silent	SNP	ENST00000405312.3	37	c.471T>C	CCDS46093.1																																																																																				0.532	PSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323073.1	NM_213633		4	213	0	0	0	1	0	4	213				
CDH1	999	broad.mit.edu	37	16	68855984	68855984	+	Missense_Mutation	SNP	C	C	G	rs121964877		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr16:68855984C>G	ENST00000261769.5	+	12	1983	c.1792C>G	c.(1792-1794)Cga>Gga	p.R598G	RP11-354M1.2_ENST00000563916.1_RNA|CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.R537G	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	598	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.		R -> Q (in a gastric cancer sample).		adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ACCAGAACCTCGAACTATATT	0.453			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													ENST00000261769.5			yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""Mis, N, F, S"""	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""			E		gastric	"""lobular breast, gastric"""		0				NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311	GRCh37	CM980318	CDH1	M	rs121964877	c.(1792-1794)Cga>Gga		cadherin 1, type 1, E-cadherin (epithelial)							124.0	112.0	116.0					16																	68855984		2198	4300	6498	SO:0001583	missense	999	Hereditary Diffuse Gastric Cancer	Familial Cancer Database	HDGC	adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	g.chr16:68855984C>G	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.1792C>G	16.37:g.68855984C>G	ENSP00000261769:p.Arg598Gly					CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.R537G|RP11-354M1.2_ENST00000563916.1_RNA	p.R598G	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)	12	1983	+		all_neural(199;0.0189)|Ovarian(137;0.0563)	598		R -> Q (in a gastric cancer sample).	Cadherin 5.		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	c.1792C>G	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.924348	0.52653	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.60920	0.15;0.15	5.34	5.34	0.76211	Cadherin (1);Cadherin-like (2);	0.368613	0.19844	N	0.104789	T	0.74023	0.3662	M	0.70595	2.14	0.54753	D	0.999986	D;P	0.61697	0.99;0.688	D;P	0.64321	0.924;0.469	T	0.71467	-0.4584	10	0.33940	T	0.23	.	18.6991	0.91614	0.0:1.0:0.0:0.0	.	537;598	Q9UII8;P12830	.;CADH1_HUMAN	G	598;616;598;537	ENSP00000261769:R598G;ENSP00000414946:R537G	ENSP00000261769:R598G	R	+	1	2	CDH1	67413485	1.000000	0.71417	0.798000	0.32154	0.055000	0.15305	5.243000	0.65395	2.523000	0.85059	0.536000	0.68110	CGA		0.453	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360		4	83	0	0	0	1	0	4	83				
WDR3	10885	broad.mit.edu	37	1	118479418	118479418	+	Silent	SNP	G	G	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:118479418G>T	ENST00000349139.5	+	4	455	c.408G>T	c.(406-408)gtG>gtT	p.V136V	WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	136						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TATGGGATGTGATCAATGAAA	0.368																																						ENST00000349139.4																			0				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(406-408)gtG>gtT		WD repeat domain 3							114.0	110.0	112.0					1																	118479418		2203	4300	6503	SO:0001819	synonymous_variant	10885					nuclear membrane|nucleolus		g.chr1:118479418G>T	AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.408G>T	1.37:g.118479418G>T						WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR	p.V136V	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)	4	455	+	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)	136						Silent	SNP	ENST00000349139.5	37	c.408G>T	CCDS898.1																																																																																				0.368	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784		21	26	1	0	2.98393e-07	1	3.25035e-07	21	26				
ASNSD1	54529	broad.mit.edu	37	2	190531324	190531324	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:190531324C>G	ENST00000260952.4	+	4	879	c.466C>G	c.(466-468)Ctc>Gtc	p.L156V	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	156	Glutamine amidotransferase type-2. {ECO:0000255|PROSITE-ProRule:PRU00609}.				asparagine biosynthetic process (GO:0006529)|glutamine metabolic process (GO:0006541)		asparagine synthase (glutamine-hydrolyzing) activity (GO:0004066)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GAGTTTCTGCCTCTCTTCAGT	0.398																																						ENST00000260952.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25						c.(466-468)Ctc>Gtc		asparagine synthetase domain containing 1							101.0	103.0	103.0					2																	190531324		2187	4274	6461	SO:0001583	missense	54529				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity	g.chr2:190531324C>G	AY116969	CCDS2300.1	2q32.2	2012-09-20			ENSG00000138381	ENSG00000138381			24910	protein-coding gene	gene with protein product							Standard	NM_019048		Approved	NS3TP1, FLJ20752, NBLA00058	uc002uqt.3	Q9NWL6	OTTHUMG00000132665	ENST00000260952.4:c.466C>G	2.37:g.190531324C>G	ENSP00000260952:p.Leu156Val					ASNSD1_ENST00000607062.1_Intron	p.L156V	NM_019048.2	NP_061921.1	Q9NWL6	ASND1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)		4	879	+			156			Glutamine amidotransferase type-2.		D3DPH6|Q3LIC3|Q4ZG45	Missense_Mutation	SNP	ENST00000260952.4	37	c.466C>G	CCDS2300.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832099	0.71258	.	.	ENSG00000138381	ENST00000260952;ENST00000420250	T;T	0.36340	1.26;1.26	5.62	4.73	0.59995	Glutamine amidotransferase, type II (1);	0.056150	0.64402	D	0.000001	T	0.54743	0.1877	M	0.71920	2.185	0.80722	D	1	D	0.55800	0.973	P	0.57283	0.817	T	0.59547	-0.7434	10	0.54805	T	0.06	-5.4252	16.0352	0.80621	0.1354:0.8645:0.0:0.0	.	156	Q9NWL6	ASND1_HUMAN	V	156	ENSP00000260952:L156V;ENSP00000406790:L156V	ENSP00000260952:L156V	L	+	1	0	ASNSD1	190239569	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.898000	0.39809	1.466000	0.48025	0.655000	0.94253	CTC		0.398	ASNSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255919.3	NM_019048		51	81	0	0	0	1	0	51	81				
DHRS4	10901	broad.mit.edu	37	14	24424420	24424420	+	Splice_Site	SNP	C	C	T	rs537144117	byFrequency	TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000397073.2_Splice_Site_p.T84M|DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000543741.2_Splice_Site_p.T102M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M|DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000382761.3_Splice_Site_p.T84M	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292). {ECO:0000305}.	alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													.|||	14	0.00279553	0.0008	0.0	5008	,	,		13962	0.003		0.004	False		,,,				2504	0.0061					ENST00000313250.5																			4	Substitution - Missense(4)	p.T102M(4)	central_nervous_system(2)|lung(1)|kidney(1)	central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.e2+1		dehydrogenase/reductase (SDR family) member 4	Vitamin A(DB00162)																																			SO:0001630	splice_region_variant	10901					mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	g.chr14:24424420C>T	AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.306+1C>T	14.37:g.24424420C>T						DHRS4_ENST00000397075.3_Splice_Site_p.T102_splice|DHRS4_ENST00000308178.8_Splice_Site_p.T84_splice|DHRS4_ENST00000382761.3_Splice_Site_p.T84_splice|DHRS4_ENST00000421831.1_Splice_Site_p.T84_splice|DHRS4_ENST00000559632.1_Splice_Site_p.T102_splice|DHRS4_ENST00000558263.1_Splice_Site_p.T102_splice|DHRS4_ENST00000397073.2_Splice_Site_p.T84_splice|DHRS4_ENST00000397074.3_Splice_Site_p.T102_splice|DHRS4_ENST00000558581.1_Splice_Site_p.T102_splice|DHRS4_ENST00000543741.2_Splice_Site_p.T102_splice	p.T102_splice	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN		GBM - Glioblastoma multiforme(265;0.00962)	2	508	+			102	T -> M (in Ref. 1; AAD02292).				B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	Splice_Site	SNP	ENST00000313250.5	37	c.306_splice	CCDS9605.1	.	.	.	.	.	.	.	.	.	.	.	8.197	0.797295	0.16327	.	.	ENSG00000157326	ENST00000313250;ENST00000421831;ENST00000397073;ENST00000308178;ENST00000382761;ENST00000397075;ENST00000397074;ENST00000543741	T;T;D;D;D;D;D;D	0.88201	0.93;0.93;-2.35;-2.35;-2.35;-2.35;-2.35;-2.35	3.78	0.837	0.18896	NAD(P)-binding domain (1);	0.264094	0.42294	N	0.000732	D	0.83839	0.5341	M	0.77712	2.385	0.36055	D	0.841007	P;B;B;B;B;B	0.45011	0.848;0.001;0.002;0.065;0.05;0.035	B;B;B;B;B;B	0.34180	0.177;0.002;0.001;0.016;0.064;0.044	T	0.80294	-0.1443	10	0.37606	T	0.19	.	7.6245	0.28204	0.0:0.6987:0.0:0.3013	.	102;102;102;102;102;102	Q9BTZ2-5;F5GWZ1;Q9BTZ2-2;Q9BTZ2-7;Q9BTZ2-4;Q9BTZ2	.;.;.;.;.;DHRS4_HUMAN	M	102;84;84;84;84;102;102;102	ENSP00000326219:T102M;ENSP00000404147:T84M;ENSP00000380263:T84M;ENSP00000311993:T84M;ENSP00000372209:T84M;ENSP00000380265:T102M;ENSP00000380264:T102M;ENSP00000440508:T102M	ENSP00000311993:T84M	T	+	2	0	DHRS4	23494260	0.410000	0.25376	0.968000	0.41197	0.539000	0.34962	-0.130000	0.10498	-0.015000	0.14150	0.479000	0.44913	ACG		0.652	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071857.3		Missense_Mutation	4	27	0	0	0	1	0	4	27				
FBLN1	2192	broad.mit.edu	37	22	45946380	45946380	+	Missense_Mutation	SNP	G	G	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr22:45946380G>A	ENST00000327858.6	+	14	1677	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	FBLN1_ENST00000262722.7_Missense_Mutation_p.E528K|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000402984.3_Missense_Mutation_p.E566K|FBLN1_ENST00000340923.5_Missense_Mutation_p.E528K|FBLN1_ENST00000442170.2_Missense_Mutation_p.E528K|FBLN1_ENST00000348697.2_Missense_Mutation_p.E528K	NM_006486.2	NP_006477	P23142	FBLN1_HUMAN	fibulin 1	528	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|viral process (GO:0016032)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)|peptidase activator activity (GO:0016504)			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AGACATTGATGAGTGTGTGAC	0.587																																						ENST00000348697.2																			0				biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30						c.(1582-1584)Gag>Aag		fibulin 1							79.0	63.0	68.0					22																	45946380		2203	4300	6503	SO:0001583	missense	2192				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding	g.chr22:45946380G>A		CCDS14067.1, CCDS14068.1, CCDS14069.1, CCDS43028.1	22q13.31	2010-06-15			ENSG00000077942	ENSG00000077942		"""Fibulins"""	3600	protein-coding gene	gene with protein product		135820				2269669, 1400330	Standard	NM_006485		Approved	FBLN	uc003bgj.1	P23142	OTTHUMG00000151340	ENST00000327858.6:c.1582G>A	22.37:g.45946380G>A	ENSP00000331544:p.Glu528Lys					FBLN1_ENST00000340923.5_Missense_Mutation_p.E528K|FBLN1_ENST00000402984.3_Missense_Mutation_p.E566K|FBLN1_ENST00000442170.2_Missense_Mutation_p.E528K|FBLN1_ENST00000327858.6_Missense_Mutation_p.E528K|FBLN1_ENST00000476366.1_3'UTR|FBLN1_ENST00000262722.7_Missense_Mutation_p.E528K	p.E528K			P23142	FBLN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)	14	1729	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	528			EGF-like 9; calcium-binding.		B0QY42|B1AHL4|P23143|P23144|P37888|Q5TIC4|Q8TBH8|Q9HBQ5|Q9UC21|Q9UGR4|Q9UH41	Missense_Mutation	SNP	ENST00000327858.6	37	c.1582G>A	CCDS14067.1	.	.	.	.	.	.	.	.	.	.	G	32	5.139592	0.94560	.	.	ENSG00000077942	ENST00000348697;ENST00000402984;ENST00000262722;ENST00000327858;ENST00000442170;ENST00000340923	D;D;D;D;D;D	0.99797	-5.18;-6.79;-5.18;-5.18;-5.18;-5.18	4.97	4.97	0.65823	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	H	0.95679	3.705	0.80722	D	1	D;D;D;D	0.69078	0.995;0.997;0.995;0.982	D;D;D;P	0.68483	0.942;0.92;0.958;0.853	D	0.96602	0.9445	10	0.87932	D	0	.	17.8361	0.88697	0.0:0.0:1.0:0.0	.	566;528;528;528	B1AHL2;P23142;B1AHL4;P23142-4	.;FBLN1_HUMAN;.;.	K	528;566;528;528;528;528	ENSP00000262723:E528K;ENSP00000385521:E566K;ENSP00000262722:E528K;ENSP00000331544:E528K;ENSP00000393812:E528K;ENSP00000342212:E528K	ENSP00000262722:E528K	E	+	1	0	FBLN1	44325044	1.000000	0.71417	0.950000	0.38849	0.877000	0.50540	9.157000	0.94714	2.311000	0.77944	0.561000	0.74099	GAG		0.587	FBLN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000322287.1	NM_006486		9	35	0	0	0	1	0	9	35				
DES	1674	broad.mit.edu	37	2	220285375	220285375	+	Silent	SNP	G	G	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:220285375G>T	ENST00000373960.3	+	4	980	c.894G>T	c.(892-894)tcG>tcT	p.S298S		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	298	Coil 2B.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGTACAAGTCGAAGGTGGGTG	0.602																																						ENST00000373960.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18						c.(892-894)tcG>tcT		desmin							54.0	52.0	53.0					2																	220285375		2203	4300	6503	SO:0001819	synonymous_variant	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220285375G>T	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.894G>T	2.37:g.220285375G>T							p.S298S	NM_001927.3	NP_001918.3	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	4	980	+		Renal(207;0.0183)	298			Coil 2B.|Rod.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Silent	SNP	ENST00000373960.3	37	c.894G>T	CCDS33383.1																																																																																				0.602	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		27	38	1	0	9.04072e-19	1	1.04054e-18	27	38				
TRPC6	7225	broad.mit.edu	37	11	101347235	101347235	+	Missense_Mutation	SNP	C	C	A			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr11:101347235C>A	ENST00000344327.3	-	6	1965	c.1541G>T	c.(1540-1542)tGg>tTg	p.W514L	TRPC6_ENST00000360497.4_Missense_Mutation_p.W459L|TRPC6_ENST00000348423.4_Missense_Mutation_p.W398L|TRPC6_ENST00000532133.1_Intron	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	514					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GCCCTGAGTCCAGATTTCTTT	0.383																																					Colon(166;1315 1927 11094 12848 34731)	ENST00000344327.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1540-1542)tGg>tTg		transient receptor potential cation channel, subfamily C, member 6							67.0	65.0	66.0					11																	101347235		2203	4299	6502	SO:0001583	missense	7225				axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	g.chr11:101347235C>A	AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1541G>T	11.37:g.101347235C>A	ENSP00000340913:p.Trp514Leu					TRPC6_ENST00000360497.4_Missense_Mutation_p.W459L|TRPC6_ENST00000532133.1_Intron|TRPC6_ENST00000348423.4_Missense_Mutation_p.W398L	p.W514L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0442)	6	1965	-		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)	514					Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	c.1541G>T	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159737	0.94727	.	.	ENSG00000137672	ENST00000344327;ENST00000348423;ENST00000360497	D;D;D	0.98280	-4.84;-4.84;-4.84	5.97	5.97	0.96955	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;0.967;1.0	D;P;D	0.91635	0.999;0.501;0.999	D	0.99457	1.0942	10	0.87932	D	0	-11.05	20.437	0.99096	0.0:1.0:0.0:0.0	.	459;398;514	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	L	514;398;459	ENSP00000340913:W514L;ENSP00000343672:W398L;ENSP00000353687:W459L	ENSP00000340913:W514L	W	-	2	0	TRPC6	100852445	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.811000	0.86092	2.831000	0.97527	0.643000	0.83706	TGG		0.383	TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621		5	73	1	0	0.00116845	1	0.00120805	5	73				
CACNB4	785	broad.mit.edu	37	2	152698423	152698423	+	Silent	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:152698423C>T	ENST00000539935.1	-	13	1363	c.1296G>A	c.(1294-1296)ggG>ggA	p.G432G	CACNB4_ENST00000427385.1_Silent_p.G414G|CACNB4_ENST00000360283.6_Silent_p.G399G|CACNB4_ENST00000397327.2_Silent_p.G385G|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000534999.1_Silent_p.G398G	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	432					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.G432G(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	ATACCTGTAACCCAGAAATTG	0.473																																						ENST00000360283.6																			2	Substitution - coding silent(2)	p.G432G(2)	large_intestine(2)	endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						c.(1195-1197)ggG>ggA		calcium channel, voltage-dependent, beta 4 subunit	Verapamil(DB00661)						115.0	116.0	116.0					2																	152698423		1974	4152	6126	SO:0001819	synonymous_variant	785				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr2:152698423C>T	AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.1296G>A	2.37:g.152698423C>T						CACNB4_ENST00000397327.2_Silent_p.G385G|CACNB4_ENST00000534999.1_Silent_p.G398G|CACNB4_ENST00000427385.1_Silent_p.G414G|CACNB4_ENST00000539935.1_Silent_p.G432G|CACNB4_ENST00000201943.5_Intron	p.G399G			O00305	CACB4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.156)	12	1454	-			432					A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Silent	SNP	ENST00000539935.1	37	c.1197G>A	CCDS46426.1																																																																																				0.473	CACNB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000338385.4	NM_000726.3		39	73	0	0	0	1	0	39	73				
BCRP7	100133163	broad.mit.edu	37	22	18844888	18844888	+	3'UTR	SNP	A	A	G	rs495165		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr22:18844888A>G	ENST00000412938.1	+	0	3138																											GCTCACGGAAATACAGCTTCA	0.587																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844888A>G																												ENST00000412938.1:c.*3135A>G	22.37:g.18844888A>G														0	3138	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.587	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			4	79	0	0	0	1	0	4	79				
UNC13C	440279	broad.mit.edu	37	15	54860001	54860001	+	Missense_Mutation	SNP	T	T	C			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr15:54860001T>C	ENST00000260323.11	+	29	5962	c.5962T>C	c.(5962-5964)Tac>Cac	p.Y1988H	UNC13C_ENST00000537900.1_Missense_Mutation_p.Y1986H|UNC13C_ENST00000545554.1_Missense_Mutation_p.Y1988H	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1988	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTTGTAGCAATACTTTCATGC	0.353																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(5962-5964)Tac>Cac		unc-13 homolog C (C. elegans)							40.0	38.0	38.0					15																	54860001		1795	4061	5856	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54860001T>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5962T>C	15.37:g.54860001T>C	ENSP00000260323:p.Tyr1988His					UNC13C_ENST00000537900.1_Missense_Mutation_p.Y1986H|UNC13C_ENST00000260323.11_Missense_Mutation_p.Y1988H	p.Y1988H			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	29	5962	+			1988			MHD2.		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.5962T>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.931102	0.73327	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.77229	-1.08;-1.08;-1.08	5.91	5.91	0.95273	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	0.130780	0.53938	D	0.000057	D	0.89473	0.6725	M	0.86953	2.85	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.90952	0.4806	10	0.66056	D	0.02	.	15.5243	0.75890	0.0:0.0:0.0:1.0	.	1988	Q8NB66	UN13C_HUMAN	H	1988;1988;1986	ENSP00000260323:Y1988H;ENSP00000438156:Y1988H;ENSP00000442569:Y1986H	ENSP00000260323:Y1988H	Y	+	1	0	UNC13C	52647293	1.000000	0.71417	1.000000	0.80357	0.622000	0.37654	7.985000	0.88162	2.263000	0.75096	0.377000	0.23210	TAC		0.353	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		5	9	0	0	0	1	0	5	9				
PCDHB6	56130	broad.mit.edu	37	5	140530499	140530499	+	Missense_Mutation	SNP	C	C	T			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr5:140530499C>T	ENST00000231136.1	+	1	661	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R85W	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	221	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCTCCGCCCCGGTCAGGGAC	0.582																																						ENST00000231136.1																			0				cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84						c.(661-663)Cgg>Tgg									44.0	48.0	47.0					5																	140530499		2203	4300	6503	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140530499C>T	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.661C>T	5.37:g.140530499C>T	ENSP00000231136:p.Arg221Trp					PCDHB6_ENST00000543635.1_Missense_Mutation_p.R85W	p.R221W	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	661	+			221			Cadherin 2.		B2R8R9	Missense_Mutation	SNP	ENST00000231136.1	37	c.661C>T	CCDS4248.1	.	.	.	.	.	.	.	.	.	.	C	14.66	2.600258	0.46423	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.55234	0.53;0.53	4.85	-2.88	0.05682	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.80297	0.4597	H	0.98738	4.315	0.09310	N	1	D	0.89917	1.0	D	0.70016	0.967	T	0.71490	-0.4577	9	0.87932	D	0	.	11.3347	0.49496	0.7605:0.1609:0.0:0.0786	.	221	Q9Y5E3	PCDB6_HUMAN	W	85;221;6	ENSP00000438466:R85W;ENSP00000231136:R221W	ENSP00000231136:R221W	R	+	1	2	PCDHB6	140510683	0.000000	0.05858	0.005000	0.12908	0.717000	0.41224	-0.563000	0.05943	-0.194000	0.10399	-0.410000	0.06199	CGG		0.582	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251818.2	NM_018939		4	48	0	0	0	1	0	4	48				
COL4A5	1287	broad.mit.edu	37	X	107938642	107938642	+	Missense_Mutation	SNP	C	C	G			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chrX:107938642C>G	ENST00000361603.2	+	50	5193	c.4949C>G	c.(4948-4950)gCa>gGa	p.A1650G	COL4A5_ENST00000328300.6_Missense_Mutation_p.A1656G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1650	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.		Missing (in APSX). {ECO:0000269|PubMed:7853788}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TTTTGGCTGGCAACTGTAGAT	0.448									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4966-4968)gCa>gGa		collagen, type IV, alpha 5							122.0	106.0	111.0					X																	107938642		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107938642C>G	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4949C>G	X.37:g.107938642C>G	ENSP00000354505:p.Ala1650Gly					COL4A5_ENST00000361603.2_Missense_Mutation_p.A1650G	p.A1656G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			52	5211	+			1650		Missing (in APSX).	Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4967C>G	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.366563	0.82463	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.94576	-3.46;-3.46	5.44	5.44	0.79542	C-type lectin fold (1);	0.058040	0.64402	D	0.000002	D	0.97241	0.9098	M	0.80422	2.495	0.58432	D	0.999999	P;P	0.44578	0.838;0.838	P;P	0.62813	0.907;0.907	D	0.97752	1.0215	10	0.72032	D	0.01	.	18.3768	0.90438	0.0:1.0:0.0:0.0	.	1653;1650	E7EVY4;P29400	.;CO4A5_HUMAN	G	1656;1650;1656	ENSP00000331902:A1656G;ENSP00000354505:A1650G	ENSP00000331902:A1656G	A	+	2	0	COL4A5	107825298	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.056000	0.71111	2.280000	0.76307	0.600000	0.82982	GCA		0.448	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			38	4	0	0	0	1	0	38	4				
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					ENST00000492551.1																			0																																																			0							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT								NR_026567.1						0	477_478	-									RNA	INS	ENST00000492551.1	37																																																																																						0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			5	8						5	8	---	---	---	---
GBP3	2635	broad.mit.edu	37	1	89479884	89479885	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr1:89479884_89479885delAA	ENST00000370481.4	-	5	726_727	c.506_507delTT	c.(505-507)tttfs	p.F169fs	GBP3_ENST00000475853.2_5'Flank	NM_018284.2	NP_060754.2	Q8WXF7	ATLA1_HUMAN	guanylate binding protein 3	205	GB1/RHD3-type G.				axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		AGAAGCTCACAAAGTCAGCTGA	0.455																																						ENST00000370481.4																			0				breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26						c.(505-507)tfs		guanylate binding protein 3																																				SO:0001589	frameshift_variant	2635					integral to membrane	GTP binding|GTPase activity	g.chr1:89479884_89479885delAA	BC063819	CCDS717.2	1p22.2	2008-02-05			ENSG00000117226	ENSG00000117226			4184	protein-coding gene	gene with protein product		600413				7518790	Standard	NM_018284		Approved	FLJ10961	uc001dmt.3	Q9H0R5	OTTHUMG00000010616	ENST00000370481.4:c.506_507delTT	1.37:g.89479884_89479885delAA	ENSP00000359512:p.Phe169fs						p.F169fs	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN		all cancers(265;0.0103)|Epithelial(280;0.0293)	5	726_727	-		Lung NSC(277;0.123)	169					A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	Frame_Shift_Del	DEL	ENST00000370481.4	37	c.506_507delTT	CCDS717.2																																																																																				0.455	GBP3-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313541.3	NM_018284		32	58						32	58	---	---	---	---
RBKS	64080	broad.mit.edu	37	2	28070964	28070964	+	Splice_Site	DEL	C	C	-			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:28070964delC	ENST00000302188.3	-	3	975	c.223delG	c.(223-225)gtt>tt	p.V75fs	RBKS_ENST00000444339.2_Splice_Site_p.V75fs	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	75					D-ribose catabolic process (GO:0019303)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ribokinase activity (GO:0004747)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					TCTTTGCCAACCTGTACCAAA	0.279																																						ENST00000302188.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.e3-1		ribokinase							26.0	29.0	28.0					2																	28070964		2175	4278	6453	SO:0001630	splice_region_variant	64080				D-ribose metabolic process		ATP binding|ribokinase activity	g.chr2:28070964delC	BC017425	CCDS1762.1	2p23.3	2008-02-05			ENSG00000171174	ENSG00000171174	2.7.1.15		30325	protein-coding gene	gene with protein product		611132				8382990	Standard	NM_022128		Approved	DKFZp686G13268, RBSK	uc002rlo.1	Q9H477	OTTHUMG00000097833	ENST00000302188.3:c.223-1G>-	2.37:g.28070964delC						RBKS_ENST00000444339.2_Splice_Site_p.V75_splice	p.V75_splice	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN			3	975	-	Acute lymphoblastic leukemia(172;0.155)		75					A9UK04|B4DV96	Splice_Site	DEL	ENST00000302188.3	37	c.222_splice	CCDS1762.1																																																																																				0.279	RBKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215118.1	NM_022128	Frame_Shift_Del	2	4						2	4	---	---	---	---
ANKRD23	200539	broad.mit.edu	37	2	97505817	97505817	+	Frame_Shift_Del	DEL	G	G	-			TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr2:97505817delG	ENST00000318357.4	-	7	681	c.640delC	c.(640-642)ctgfs	p.L214fs	ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000418232.1_Frame_Shift_Del_p.L214fs|ANKRD23_ENST00000331001.2_Frame_Shift_Del_p.L172fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	214					fatty acid metabolic process (GO:0006631)|response to mechanical stimulus (GO:0009612)	I band (GO:0031674)|intercalated disc (GO:0014704)|nucleus (GO:0005634)	titin binding (GO:0031432)			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						GCCACGTGCAGGGGGGTGCTC	0.637																																						ENST00000318357.4																			0				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						c.(640-642)tgfs		ankyrin repeat domain 23							18.0	17.0	17.0					2																	97505817		2177	4274	6451	SO:0001589	frameshift_variant	200539					nucleus		g.chr2:97505817delG		CCDS2027.1	2q11.2	2013-01-10			ENSG00000163126	ENSG00000163126		"""Ankyrin repeat domain containing"""	24470	protein-coding gene	gene with protein product	"""diabetes related ankyrin repeat protein"""	610736				12456686	Standard	NM_144994		Approved	DARP, FLJ32449, MARP3	uc002sxa.3	Q86SG2	OTTHUMG00000130534	ENST00000318357.4:c.640delC	2.37:g.97505817delG	ENSP00000321679:p.Leu214fs					ANKRD23_ENST00000331001.2_Frame_Shift_Del_p.L172fs|ANKRD23_ENST00000418232.1_Frame_Shift_Del_p.L214fs|ANKRD23_ENST00000476975.1_5'UTR	p.L214fs	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN			7	681	-			214					Q711K7|Q8NAJ7	Frame_Shift_Del	DEL	ENST00000318357.4	37	c.640delC	CCDS2027.1																																																																																				0.637	ANKRD23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252956.1	NM_144994		2	4						2	4	---	---	---	---
ARHGDIA	396	broad.mit.edu	37	17	79826902	79826904	+	In_Frame_Del	DEL	CTC	CTC	-	rs150457411		TCGA-KK-A6E8-01A-11D-A31L-08	TCGA-KK-A6E8-11A-11D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4ea4c81-9106-43af-b2ce-2352d6fd4978	f79ad5e5-cf51-49cb-aafb-2c6ab3448ecc	g.chr17:79826902_79826904delCTC	ENST00000269321.7	-	6	598_600	c.463_465delGAG	c.(463-465)gagdel	p.E155del	ARHGDIA_ENST00000580685.1_In_Frame_Del_p.E155del|ARHGDIA_ENST00000581876.1_In_Frame_Del_p.E80del|ARHGDIA_ENST00000584461.1_In_Frame_Del_p.E155del|ARHGDIA_ENST00000541078.2_In_Frame_Del_p.E155del|ARHGDIA_ENST00000582520.1_5'Flank|ARHGDIA_ENST00000400721.4_Intron|RP11-498C9.3_ENST00000576021.1_RNA|RP11-498C9.3_ENST00000576554.1_RNA	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha	155					cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGAACTCGTACTCCTCGGCCCGG	0.65																																						ENST00000269321.7																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(463-465)del		Rho GDP dissociation inhibitor (GDI) alpha																																				SO:0001651	inframe_deletion	396				anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity	g.chr17:79826902_79826904delCTC	BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.463_465delGAG	17.37:g.79826905_79826907delCTC	ENSP00000269321:p.Glu155del					ARHGDIA_ENST00000400721.4_Intron|ARHGDIA_ENST00000584461.1_In_Frame_Del_p.E155del|ARHGDIA_ENST00000541078.2_In_Frame_Del_p.E155del|ARHGDIA_ENST00000581876.1_In_Frame_Del_p.E80del|ARHGDIA_ENST00000580685.1_In_Frame_Del_p.E155del	p.E155del	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		6	598_600	-	all_neural(118;0.0878)|Ovarian(332;0.12)		155					A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	In_Frame_Del	DEL	ENST00000269321.7	37	c.463_465delGAG	CCDS11788.1																																																																																				0.650	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441679.2	NM_004309		9	49						9	49	---	---	---	---
