#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_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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
FABP5P13	106480712	genome.wustl.edu	37	X	484552	484552	+	IGR	SNP	C	C	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chrX:484552C>T								AL732314.1 (59136 upstream) : SHOX (100526 downstream)																							TCACACAGTCCGACACTAATT	0.453													c|||	2838	0.566693	0.233	0.6542	5008	,	,		18926	0.9821		0.4771	False		,,,				2504	0.6196															0			X																																								404552	SO:0001628	intergenic_variant	644026																															X.37:g.484552C>T			404552		Silent	SNP	NULL	p.S289		37	c.867		X																																																																																			-	NULL	0	0.453					LOC644026			C			404552	-1	no_start_codon:pseudogene:no_stop_codon	XM_001714036	genbank	human	model	54_36p	silent	SNP	0.667	T
ARHGEF10	9639	genome.wustl.edu	37	8	1882010	1882010	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr8:1882010G>A	ENST00000398564.1	+	26	3199	c.3199G>A	c.(3199-3201)Gtc>Atc	p.V1067I	ARHGEF10_ENST00000262112.6_Missense_Mutation_p.V1038I|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.V1042I|ARHGEF10_ENST00000520359.1_Missense_Mutation_p.V1004I|ARHGEF10_ENST00000518288.1_Missense_Mutation_p.V1066I			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1067					centrosome duplication (GO:0051298)|myelination in peripheral nervous system (GO:0022011)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cytosol (GO:0005829)	kinesin binding (GO:0019894)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CAAGTTAGGCGTCCTACCAGT	0.438																																																0			8											170.0	160.0	163.0					8																	1882010		2203	4300	6503	1869417	SO:0001583	missense	9639			AF009205	CCDS34794.1	8p23	2014-09-17			ENSG00000104728	ENSG00000104728		"""Rho guanine nucleotide exchange factors"""	14103	protein-coding gene	gene with protein product		608136				9205841, 16896804	Standard	XM_005266039		Approved	KIAA0294, Gef10	uc003wpr.3	O15013	OTTHUMG00000163626	ENST00000398564.1:c.3199G>A	8.37:g.1882010G>A	ENSP00000381571:p.Val1067Ile		1869417	O14665|Q2KHR8|Q68D55|Q8IWD9|Q8IY77	Missense_Mutation	SNP	superfamily_DH-domain,HMMPfam_RhoGEF,HMMSmart_RhoGEF,superfamily_SSF50729,superfamily_WD40_like,PatternScan_THIOL_PROTEASE_HIS	p.V1042I	ENST00000398564.1	37	c.3124		8	.	.	.	.	.	.	.	.	.	.	G	13.58	2.279875	0.40294	.	.	ENSG00000104728	ENST00000349830;ENST00000520359;ENST00000518288;ENST00000398564;ENST00000262112;ENST00000522435	T;T;T;T;T;T	0.31510	1.49;1.49;1.49;1.49;1.49;1.49	5.11	4.24	0.50183	.	0.059787	0.64402	N	0.000003	T	0.54854	0.1884	M	0.76838	2.35	0.80722	D	1	D;D	0.89917	1.0;0.986	D;P	0.83275	0.996;0.786	T	0.56275	-0.8006	10	0.38643	T	0.18	-43.1892	13.6189	0.62126	0.0756:0.0:0.9244:0.0	.	1004;1042	O15013-7;O15013-5	.;.	I	1042;1004;1066;1067;1038;686	ENSP00000340297:V1042I;ENSP00000427909:V1004I;ENSP00000431012:V1066I;ENSP00000381571:V1067I;ENSP00000262112:V1038I;ENSP00000427768:V686I	ENSP00000262112:V1038I	V	+	1	0	ARHGEF10	1869417	1.000000	0.71417	0.332000	0.25469	0.022000	0.10575	6.387000	0.73191	1.267000	0.44247	0.655000	0.94253	GTC	-	superfamily_WD40_like		0.438	ARHGEF10-203	KNOWN	basic	protein_coding	ARHGEF10	protein_coding		G			1869417	+1	no_errors	NM_014629	genbank	human	reviewed	54_36p	missense	SNP	0.996	A
TJP3	27134	genome.wustl.edu	37	19	3740719	3740719	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr19:3740719C>T	ENST00000541714.2	+	14	2263	c.1801C>T	c.(1801-1803)Cag>Tag	p.Q601*	TJP3_ENST00000262968.9_Nonsense_Mutation_p.Q634*|TJP3_ENST00000587686.1_Nonsense_Mutation_p.Q620*|TJP3_ENST00000589378.1_Nonsense_Mutation_p.Q610*|TJP3_ENST00000539908.2_Nonsense_Mutation_p.Q565*|TJP3_ENST00000382008.3_Nonsense_Mutation_p.Q615*	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	601	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				regulation of G1/S transition of mitotic cell cycle (GO:2000045)	apical plasma membrane (GO:0016324)|nucleus (GO:0005634)|tight junction (GO:0005923)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTGACCCGACAGGGCCGCTA	0.677																																																0			19											21.0	23.0	22.0					19																	3740719		2201	4299	6500	3691719	SO:0001587	stop_gained	27134			AC005954	CCDS32873.1, CCDS32873.2, CCDS59332.1	19p13.3	2012-07-12	2012-07-12			ENSG00000105289			11829	protein-coding gene	gene with protein product	"""zona occludens 3"""	612689					Standard	NM_001267560		Approved	ZO-3	uc010xhu.3	O95049		ENST00000541714.2:c.1801C>T	19.37:g.3740719C>T	ENSP00000439278:p.Gln601*		3691719	A6NFP3|B3KR73|B3KXZ0|B4E2W6|F5H2X0|F5H4S9|K7EK22|Q32N01	Nonsense_Mutation	SNP	superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.Q634*	ENST00000541714.2	37	c.1900	CCDS32873.2	19	.	.	.	.	.	.	.	.	.	.	C	34	5.389159	0.95988	.	.	ENSG00000105289	ENST00000541714;ENST00000539908;ENST00000382008;ENST00000262968	.	.	.	5.0	5.0	0.66597	.	0.063133	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	12.0304	0.53394	0.1728:0.8272:0.0:0.0	.	.	.	.	X	601;565;615;634	.	ENSP00000262968:Q634X	Q	+	1	0	TJP3	3691719	0.988000	0.35896	0.920000	0.36463	0.018000	0.09664	2.679000	0.46909	2.286000	0.76751	0.655000	0.94253	CAG	-	HMMSmart_SM00072,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.677	TJP3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TJP3	protein_coding	OTTHUMT00000453434.1	C			3691719	+1	no_errors	NM_014428	genbank	human	provisional	54_36p	nonsense	SNP	0.998	T
KHSRP	8570	genome.wustl.edu	37	19	6427481	6427481	+	5'Flank	SNP	G	G	T	rs191002996	byFrequency	TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr19:6427481G>T	ENST00000398148.3	-	0	0				SLC25A41_ENST00000321510.6_Missense_Mutation_p.T219K	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GTACTGGCCCGTCCGACGCAA	0.612													G|||	25	0.00499201	0.0	0.0058	5008	,	,		17711	0.0		0.006	False		,,,				2504	0.0153				Colon(55;593 1006 2067 9135 22980)											0			19						G	LYS/THR	4,4396		0,4,2196	21.0	26.0	24.0		656	4.1	0.1	19		24	57,8537		0,57,4240	yes	missense	SLC25A41	NM_173637.3	78	0,61,6436	TT,TG,GG		0.6633,0.0909,0.4694	possibly-damaging	219/371	6427481	61,12933	2200	4297	6497	6378481	SO:0001631	upstream_gene_variant	284427			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6427481G>T	Exception_encountered		6378481	O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	superfamily_Mitochondrial carrier,HMMPfam_Mito_carr	p.T219K	ENST00000398148.3	37	c.656	CCDS45936.1	19	8	0.003663003663003663	0	0.0	3	0.008287292817679558	0	0.0	5	0.006596306068601583	G	16.70	3.196645	0.58126	9.09E-4	0.006633	ENSG00000181240	ENST00000321510	T	0.78364	-1.17	4.06	4.06	0.47325	Mitochondrial carrier domain (2);	.	.	.	.	T	0.79393	0.4438	L	0.50847	1.595	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.80903	-0.1174	9	0.36615	T	0.2	-19.5391	15.1731	0.72891	0.0:0.0:1.0:0.0	.	219	Q8N5S1	S2541_HUMAN	K	219	ENSP00000322649:T219K	ENSP00000322649:T219K	T	-	2	0	SLC25A41	6378481	1.000000	0.71417	0.063000	0.19743	0.412000	0.31113	5.956000	0.70315	2.091000	0.63221	0.455000	0.32223	ACG	-	superfamily_Mitochondrial carrier,HMMPfam_Mito_carr		0.612	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A41	protein_coding	OTTHUMT00000453305.1	G			6378481	-1	no_errors	NM_173637	genbank	human	validated	54_36p	missense	SNP	0.982	T
TPI1	7167	genome.wustl.edu	37	12	6979227	6979227	+	Silent	SNP	C	C	T	rs369241009		TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr12:6979227C>T	ENST00000229270.4	+	6	1006	c.669C>T	c.(667-669)caC>caT	p.H223H	TPI1_ENST00000535434.1_Silent_p.H104H|TPI1_ENST00000488464.2_Silent_p.H104H|TPI1_ENST00000396705.5_Silent_p.H186H	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	223					carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|glycolytic process (GO:0006096)|multicellular organismal development (GO:0007275)|pentose-phosphate shunt (GO:0006098)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	triose-phosphate isomerase activity (GO:0004807)			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						AGGAAGTACACGAGAAGCTCC	0.522											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			12											114.0	113.0	113.0					12																	6979227		2203	4300	6503	6849488	SO:0001819	synonymous_variant	7167				CCDS8566.1, CCDS53740.1, CCDS58206.1	12p13.31	2012-10-02			ENSG00000111669	ENSG00000111669	5.3.1.1		12009	protein-coding gene	gene with protein product		190450					Standard	NM_000365		Approved		uc001qrk.4	P60174	OTTHUMG00000133767	ENST00000229270.4:c.669C>T	12.37:g.6979227C>T		638	6849488	B7Z5D8|D3DUS9|P00938|Q6FHP9|Q6IS07|Q8WWD0|Q96AG5	Silent	SNP	superfamily_Triosephosphate isomerase (TIM),HMMPfam_TIM,PatternScan_TIM	p.H186	ENST00000229270.4	37	c.558	CCDS53740.1	12																																																																																			-	superfamily_Triosephosphate isomerase (TIM),HMMPfam_TIM		0.522	TPI1-001	KNOWN	basic|CCDS	protein_coding	TPI1	protein_coding	OTTHUMT00000258252.1	C	NM_000365		6849488	+1	no_errors	NM_000365	genbank	human	provisional	54_36p	silent	SNP	0.995	T
TP53	7157	genome.wustl.edu	37	17	7574035	7574035	+	Splice_Site	SNP	T	T	C			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr17:7574035T>C	ENST00000269305.4	-	10	1183		c.e10-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(10)|p.0?(8)|p.I332fs*49(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCCACGGATCTGCAGCAACAG	0.507		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	19	Unknown(10)|Whole gene deletion(8)|Insertion - Frameshift(1)	lung(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|central_nervous_system(2)|liver(2)|stomach(1)|breast(1)	17											44.0	36.0	38.0					17																	7574035		2203	4300	6503	7514760	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.994-2A>G	17.37:g.7574035T>C			7514760	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e9-2	ENST00000269305.4	37	c.994-2	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	12.31	1.898270	0.33535	.	.	ENSG00000141510	ENST00000269305;ENST00000445888;ENST00000396473	.	.	.	5.13	5.13	0.70059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.1784	0.59641	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7514760	1.000000	0.71417	0.937000	0.37676	0.131000	0.20780	6.590000	0.74085	2.061000	0.61500	0.459000	0.35465	.	-	-		0.507	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	T	NM_000546	Intron	7514760	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	C
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037825	10037825	+	RNA	SNP	T	T	C			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chrY:10037825T>C	ENST00000515896.1	+	0	62									RNA, 5.8S ribosomal pseudogene 6																		GCTGTGAGAATTAATGTGAAT	0.517																																																0			Y																																								10647825			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037825T>C			10647825		Missense_Mutation	SNP	NULL	p.I7T	ENST00000515896.1	37	c.20		Y																																																																																			-	NULL		0.517	RNA5-8SP6-201	KNOWN	basic	rRNA	LOC100132755	rRNA		T			10647825	+1	no_errors	XM_001713806	genbank	human	model	54_36p	missense	SNP	1.000	C
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037856	10037856	+	RNA	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chrY:10037856G>A	ENST00000515896.1	+	0	93									RNA, 5.8S ribosomal pseudogene 6																		ATTGATCATCGACACTTCGAA	0.537																																																0			Y																																								10647856			0					Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037856G>A			10647856		RNA	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			-	-		0.537	RNA5-8SP6-201	KNOWN	basic	rRNA	ENSG00000222088	rRNA		G			10647856	+1	no_errors	ENST00000410156	ensembl	human	novel	54_36p	rna	SNP	1.000	A
GFOD1	54438	genome.wustl.edu	37	6	13365847	13365847	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr6:13365847C>G	ENST00000379287.3	-	2	965	c.301G>C	c.(301-303)Gct>Cct	p.A101P	GFOD1_ENST00000379284.1_5'UTR	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	101						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			ATGCGGAAAGCGTCCAGCGGC	0.657																																																0			6											61.0	62.0	62.0					6																	13365847		2202	4293	6495	13473826	SO:0001583	missense	54438			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.301G>C	6.37:g.13365847C>G	ENSP00000368589:p.Ala101Pro		13473826	A8E4L6|Q5T058|Q96JD4|Q9H5K2	Missense_Mutation	SNP	HMMPfam_GFO_IDH_MocA,superfamily_NAD(P)-binding Rossmann-fold domains,superfamily_Glyceraldehyde-3-phosphate dehydrogenase-like C-terminal domain,HMMPfam_GFO_IDH_MocA_C	p.A101P	ENST00000379287.3	37	c.301	CCDS4524.1	6	.	.	.	.	.	.	.	.	.	.	C	23.4	4.406537	0.83230	.	.	ENSG00000145990	ENST00000379287	T	0.32988	1.43	5.2	4.31	0.51392	Oxidoreductase, N-terminal (1);NAD(P)-binding domain (1);	0.057224	0.64402	D	0.000001	T	0.54822	0.1882	M	0.91038	3.17	0.80722	D	1	D	0.69078	0.997	D	0.76575	0.988	T	0.68659	-0.5350	10	0.87932	D	0	-13.1758	14.5872	0.68335	0.0:0.8531:0.1469:0.0	.	101	Q9NXC2	GFOD1_HUMAN	P	101	ENSP00000368589:A101P	ENSP00000368589:A101P	A	-	1	0	GFOD1	13473826	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.791000	0.85805	1.126000	0.42016	0.650000	0.86243	GCT	-	superfamily_NAD(P)-binding Rossmann-fold domains		0.657	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFOD1	protein_coding	OTTHUMT00000039902.1	C	NM_018988		13473826	-1	no_errors	NM_018988	genbank	human	provisional	54_36p	missense	SNP	1.000	G
CLCNKB	1188	genome.wustl.edu	37	1	16378239	16378239	+	Silent	SNP	C	C	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr1:16378239C>T	ENST00000375679.4	+	14	1443	c.1332C>T	c.(1330-1332)ctC>ctT	p.L444L	CLCNKB_ENST00000375667.3_Silent_p.L275L	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	444					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGGAGACTCTCTCTTTTATCT	0.637																																																0			1											94.0	95.0	95.0					1																	16378239		2203	4300	6503	16250826	SO:0001819	synonymous_variant	1188			AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1332C>T	1.37:g.16378239C>T			16250826	B3KUY3|Q5T5Q7|Q5T5Q8	Silent	SNP	superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMPfam_CBS,HMMSmart_SM00116	p.L444	ENST00000375679.4	37	c.1332	CCDS168.1	1																																																																																			-	superfamily_Clc chloride channel,HMMPfam_Voltage_CLC		0.637	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCNKB	protein_coding	OTTHUMT00000026331.1	C	NM_000085		16250826	+1	no_errors	NM_000085	genbank	human	validated	54_36p	silent	SNP	0.001	T
NHLRC1	378884	genome.wustl.edu	37	6	18122526	18122526	+	Silent	SNP	A	A	G	rs115931931	byFrequency	TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr6:18122526A>G	ENST00000340650.3	-	1	325	c.312T>C	c.(310-312)caT>caC	p.H104H		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing E3 ubiquitin protein ligase 1	104					autophagy (GO:0006914)|carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|positive regulation of protein ubiquitination (GO:0031398)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			GGGCGGCGCGATGGGCGGCCG	0.726													G|||	580	0.115815	0.2277	0.1138	5008	,	,		13206	0.0218		0.0905	False		,,,				2504	0.089															0			6						G		697,3599		63,571,1514	7.0	9.0	9.0		312	-4.7	0.0	6	dbSNP_132	9	658,7728		34,590,3569	no	coding-synonymous	NHLRC1	NM_198586.2		97,1161,5083	GG,GA,AA		7.8464,16.2244,10.6844		104/396	18122526	1355,11327	2148	4193	6341	18230505	SO:0001819	synonymous_variant	378884			AY324849	CCDS4542.1	6p22.3	2014-01-28	2013-12-12		ENSG00000187566	ENSG00000187566			21576	protein-coding gene	gene with protein product	"""epilepsy, progressive myoclonus type 2B"""	608072	"""NHL repeat containing 1"""			12958597	Standard	NM_198586		Approved	bA204B7.2, EPM2B, malin	uc003ncl.1	Q6VVB1	OTTHUMG00000014315	ENST00000340650.3:c.312T>C	6.37:g.18122526A>G			18230505	Q3SYB1|Q5VUK7|Q6IMH1	Silent	SNP	superfamily_SSF57850,HMMSmart_RING,PatternScan_ZF_RING_1,superfamily_SSF101898,HMMPfam_NHL	p.H104	ENST00000340650.3	37	c.312	CCDS4542.1	6																																																																																			-	superfamily_SSF57850		0.726	NHLRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC1	protein_coding	OTTHUMT00000039958.1	A			18230505	-1	no_errors	NM_198586	genbank	human	provisional	54_36p	silent	SNP	0.000	G
KRT17P2	339241	genome.wustl.edu	37	17	18333987	18333987	+	RNA	SNP	C	C	T	rs573127171	byFrequency	TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr17:18333987C>T	ENST00000326333.8	+	0	1174				KRT16P1_ENST00000581027.1_RNA					keratin 17 pseudogene 2																		AGCTTCTCTGCGAGATGGAGC	0.617													c|||	5	0.000998403	0.003	0.0014	5008	,	,		19421	0.0		0.0	False		,,,				2504	0.0															0			17																																								18274712			0					17p11.2	2013-06-25			ENSG00000186831	ENSG00000186831			6429	pseudogene	pseudogene						1281771	Standard	NG_002778		Approved				OTTHUMG00000059248		17.37:g.18333987C>T			18274712		Silent	SNP	HMMPfam_Filament,PatternScan_IF	p.C359	ENST00000326333.8	37	c.1077		17																																																																																			-	HMMPfam_Filament		0.617	KRT17P2-002	KNOWN	basic	processed_transcript	ENSG00000131885	pseudogene	OTTHUMT00000446573.1	C	NG_002778		18274712	+1	no_errors	ENST00000300992	ensembl	human	known	54_36p	silent	SNP	0.995	T
TRAV19	28664	genome.wustl.edu	37	14	22476213	22476213	+	RNA	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr14:22476213G>A	ENST00000390447.3	+	0	260									T cell receptor alpha variable 19																		TATGAAACCCGTGATACTACT	0.418																																																0			14											70.0	69.0	69.0					14																	22476213		1911	4116	6027	21546053			0			AE000660		14q11.2	2012-02-07			ENSG00000211799	ENSG00000211799		"""T cell receptors / TRA locus"""	12115	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV12S1, TCRAV19S1			OTTHUMG00000170645		14.37:g.22476213G>A			21546053		Missense_Mutation	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406	p.R48H	ENST00000390447.3	37	c.143		14																																																																																			-	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00406		0.418	TRAV19-001	KNOWN	upstream_ATG|mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	uc001wcu.2	TR_V_gene	OTTHUMT00000409893.1	G	NG_001332		21546053	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390447	ensembl	human	known	54_36p	missense	SNP	0.000	A
MLLT10	8028	genome.wustl.edu	37	10	22022934	22022934	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr10:22022934A>G	ENST00000307729.7	+	20	2912	c.2734A>G	c.(2734-2736)Att>Gtt	p.I912V	MLLT10_ENST00000377072.3_Missense_Mutation_p.I928V|MLLT10_ENST00000377059.3_Missense_Mutation_p.I912V|MLLT10_ENST00000446906.2_Missense_Mutation_p.I912V			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	912					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AATTAATGGCATTGTAGGAGC	0.498			T	"""MLL, PICALM, CDK6"""	AL																																		Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	0			10											105.0	92.0	96.0					10																	22022934		2203	4300	6503	22062940	SO:0001583	missense	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.2734A>G	10.37:g.22022934A>G	ENSP00000307411:p.Ile912Val		22062940	B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1	p.I928V	ENST00000307729.7	37	c.2782	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815630	0.50527	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.14893	2.47;2.49;2.49;2.49	4.55	4.55	0.56014	.	0.178156	0.48767	D	0.000174	T	0.13072	0.0317	L	0.44542	1.39	0.48511	D	0.999665	B;B;P;B	0.41947	0.383;0.07;0.766;0.162	B;B;B;B	0.36766	0.106;0.023;0.232;0.034	T	0.08411	-1.0723	10	0.11794	T	0.64	.	12.4706	0.55785	1.0:0.0:0.0:0.0	.	607;912;912;928	Q5HYC6;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	V	928;912;912;747;912	ENSP00000366272:I928V;ENSP00000401406:I912V;ENSP00000307411:I912V;ENSP00000366258:I912V	ENSP00000307411:I912V	I	+	1	0	MLLT10	22062940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.644000	0.67902	1.686000	0.51046	0.455000	0.32223	ATT	-	NULL		0.498	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	protein_coding	OTTHUMT00000047136.1	A			22062940	+1	no_errors	NM_004641	genbank	human	validated	54_36p	missense	SNP	1.000	G
GAD2	2572	genome.wustl.edu	37	10	26559581	26559581	+	Missense_Mutation	SNP	T	T	G			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr10:26559581T>G	ENST00000376261.3	+	10	1491	c.988T>G	c.(988-990)Ttc>Gtc	p.F330V	GAD2_ENST00000259271.3_Missense_Mutation_p.F330V	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	330					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTTTGTTCCTTTCCTCGTGAG	0.463																																																0			10											164.0	158.0	160.0					10																	26559581		2203	4300	6503	26599587	SO:0001583	missense	2572			AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.988T>G	10.37:g.26559581T>G	ENSP00000365437:p.Phe330Val		26599587	Q9UD87	Missense_Mutation	SNP	superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC,PatternScan_DDC_GAD_HDC_YDC	p.F330V	ENST00000376261.3	37	c.988	CCDS7149.1	10	.	.	.	.	.	.	.	.	.	.	T	26.7	4.763648	0.89932	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	T;T	0.40225	1.04;1.04	5.61	5.61	0.85477	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.68210	0.2976	M	0.88570	2.965	0.80722	D	1	P	0.46395	0.877	P	0.60236	0.871	T	0.74512	-0.3641	10	0.72032	D	0.01	-19.0024	15.4776	0.75497	0.0:0.0:0.0:1.0	.	330	Q05329	DCE2_HUMAN	V	330	ENSP00000365437:F330V;ENSP00000259271:F330V	ENSP00000259271:F330V	F	+	1	0	GAD2	26599587	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	4.678000	0.61641	2.149000	0.67028	0.523000	0.50628	TTC	-	superfamily_PLP-dependent transferases,HMMPfam_Pyridoxal_deC		0.463	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	GAD2	protein_coding	OTTHUMT00000047255.1	T	NM_000818		26599587	+1	no_errors	NM_000818	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
WASF2	10163	genome.wustl.edu	37	1	27755386	27755386	+	Silent	SNP	C	C	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr1:27755386C>T	ENST00000430629.2	-	2	230	c.15G>A	c.(13-15)acG>acA	p.T5T	WASF2_ENST00000536657.1_Silent_p.T5T	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	5					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		CGATGTTCCTCGTTACTAACG	0.473																																																0			1											119.0	94.0	103.0					1																	27755386		2203	4300	6503	27627973	SO:0001819	synonymous_variant	10163			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.15G>A	1.37:g.27755386C>T			27627973	B4DZN0|O60794|Q9UDY7	Silent	SNP	HMMPfam_WH2,HMMSmart_WH2	p.T5	ENST00000430629.2	37	c.15	CCDS304.1	1																																																																																			-	NULL		0.473	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF2	protein_coding	OTTHUMT00000009516.1	C	NM_006990		27627973	-1	no_errors	NM_006990	genbank	human	reviewed	54_36p	silent	SNP	0.998	T
GOLGA8J	653073	genome.wustl.edu	37	15	30385432	30385432	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr15:30385432C>G	ENST00000567927.1	+	18	1713	c.1713C>G	c.(1711-1713)gaC>gaG	p.D571E	RN7SL673P_ENST00000473279.2_RNA|AC120045.1_ENST00000408323.1_RNA|GOLGA8J_ENST00000341650.6_Missense_Mutation_p.D384E			A6NMD2	GOG8J_HUMAN	golgin A8 family, member J	571						Golgi apparatus (GO:0005794)											GGGCTGCAGACAAGCATGGTC	0.612																																																0			15																																								28172724	SO:0001583	missense	653073				CCDS61574.1	15q13.2	2012-10-05			ENSG00000179938	ENSG00000179938			38650	protein-coding gene	gene with protein product							Standard	NM_001282472		Approved			A6NMD2	OTTHUMG00000175635	ENST00000567927.1:c.1713C>G	15.37:g.30385432C>G	ENSP00000456401:p.Asp571Glu		28172724	H3BRU0	Missense_Mutation	SNP	NULL	p.D542E	ENST00000567927.1	37	c.1626		15	.	.	.	.	.	.	.	.	.	.	.	2.299	-0.360512	0.05103	.	.	ENSG00000179938	ENST00000341650	T	0.22336	1.96	1.48	-2.44	0.06502	.	.	.	.	.	T	0.10766	0.0263	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34204	-0.9838	6	0.24483	T	0.36	.	2.6016	0.04867	0.0:0.3992:0.2713:0.3295	.	.	.	.	E	384	ENSP00000345217:D384E	ENSP00000345217:D384E	D	+	3	2	GOLGA8J	28172724	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.394000	0.07296	-0.603000	0.05767	0.175000	0.17021	GAC	-	NULL		0.612	GOLGA8J-001	NOVEL	basic|appris_candidate_longest	protein_coding	LOC653073	protein_coding	OTTHUMT00000430682.1	C	XM_001724382		28172724	+1	no_errors	XM_001724382	genbank	human	model	54_36p	missense	SNP	0.003	G
NPIPB11	728888	genome.wustl.edu	37	16	29394748	29394748	+	Missense_Mutation	SNP	T	T	C	rs373290715		TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr16:29394748T>C	ENST00000524087.1	-	8	1579	c.1505A>G	c.(1504-1506)cAt>cGt	p.H502R	SNX29P2_ENST00000398878.3_lincRNA			E5RHQ5	NPB11_HUMAN	nuclear pore complex interacting protein family, member B11	502	Pro-rich.					integral component of membrane (GO:0016021)											CCCCCGCAGATGCTCGGCAGG	0.567																																																0			16																																								29302249	SO:0001583	missense	728888					16p11.2	2013-06-11			ENSG00000254206	ENSG00000254206			37453	protein-coding gene	gene with protein product							Standard	XM_006721110		Approved			E5RHQ5	OTTHUMG00000170467	ENST00000524087.1:c.1505A>G	16.37:g.29394748T>C	ENSP00000430853:p.His502Arg		29302249		RNA	SNP	-	NULL	ENST00000524087.1	37	NULL		16	.	.	.	.	.	.	.	.	.	.	C	0.025	-1.378907	0.01204	.	.	ENSG00000254206	ENST00000524087	T	0.15834	2.39	.	.	.	.	.	.	.	.	T	0.05960	0.0155	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.41034	-0.9531	4	0.06494	T	0.89	.	.	.	.	.	.	.	.	R	502	ENSP00000430853:H502R	ENSP00000430853:H502R	H	-	2	0	RP11-231C14.2	29302249	.	.	.	.	.	.	.	.	.	.	.	.	CAT	-	-		0.567	NPIPB11-001	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal	protein_coding	LOC728888	protein_coding	OTTHUMT00000374094.1	T	XM_002343430		29302249	-1	no_errors	XR_015889	genbank	human	model	54_36p	rna	SNP	0.000	C
LY6G6F	259215	genome.wustl.edu	37	6	31678362	31678362	+	Silent	SNP	C	C	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr6:31678362C>T	ENST00000375832.4	+	6	910	c.888C>T	c.(886-888)ccC>ccT	p.P296P	LY6G6F_ENST00000556581.1_Intron|MEGT1_ENST00000503322.1_Intron|XXbac-BPG32J3.20_ENST00000461287.1_Intron	NM_001003693.1	NP_001003693.1	Q5SQ64	LY66F_HUMAN	lymphocyte antigen 6 complex, locus G6F	296						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CCCACAAGCCCAGGTGATTTT	0.562																																																0			6											143.0	129.0	134.0					6																	31678362		2203	4300	6503	31786341	SO:0001819	synonymous_variant	259215				CCDS34403.1	6p21	2013-01-11	2008-05-21	2008-05-21		ENSG00000204424		"""Immunoglobulin superfamily / V-set domain containing"""	13933	protein-coding gene	gene with protein product		611404	"""chromosome 6 open reading frame 21"""	LY6G6D, C6orf21		12852788	Standard	NM_001003693		Approved	G6f, NG32	uc003nwa.1	Q5SQ64	OTTHUMG00000031252	ENST00000375832.4:c.888C>T	6.37:g.31678362C>T			31786341	B0UXB7|O95869|Q7Z5H2|Q96QC7|Q9NZJ1	Silent	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409	p.P296	ENST00000375832.4	37	c.888	CCDS34403.1	6																																																																																			-	NULL		0.562	LY6G6F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LY6G6F	protein_coding	OTTHUMT00000076532.2	C	NM_001003693		31786341	+1	no_errors	NM_001003693	genbank	human	provisional	54_36p	silent	SNP	0.933	T
BAI2	576	genome.wustl.edu	37	1	32207466	32207466	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr1:32207466G>A	ENST00000373658.3	-	9	1861	c.1520C>T	c.(1519-1521)aCg>aTg	p.T507M	BAI2_ENST00000440175.2_Missense_Mutation_p.T149M|BAI2_ENST00000527361.1_Missense_Mutation_p.T507M|BAI2_ENST00000257070.4_Missense_Mutation_p.T507M|BAI2_ENST00000398538.1_Missense_Mutation_p.T495M|BAI2_ENST00000398556.3_Missense_Mutation_p.T455M|BAI2_ENST00000398547.1_Missense_Mutation_p.T440M|BAI2_ENST00000398542.1_Missense_Mutation_p.T440M|BAI2_ENST00000373655.2_Missense_Mutation_p.T507M	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	507	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.T507M(1)		breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		GTAGCCCTGCGTGCCCGTGGC	0.647																																																1	Substitution - Missense(1)	large_intestine(1)	1											67.0	72.0	70.0					1																	32207466		2203	4299	6502	31980053	SO:0001583	missense	576			AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1520C>T	1.37:g.32207466G>A	ENSP00000362762:p.Thr507Met		31980053	B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2	p.T507M	ENST00000373658.3	37	c.1520	CCDS346.2	1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980582	0.34942	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125;ENST00000533175	T;T;T;T;T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65;0.65	4.95	3.79	0.43588	.	0.858176	0.09722	N	0.764283	T	0.33962	0.0881	N	0.16368	0.405	0.09310	N	1	B;B;B;P;B;P;B	0.36837	0.344;0.295;0.295;0.571;0.344;0.473;0.344	B;B;B;B;B;B;B	0.41917	0.263;0.171;0.171;0.37;0.263;0.171;0.263	T	0.18178	-1.0345	10	0.52906	T	0.07	.	4.402	0.11392	0.3137:0.0:0.6863:0.0	.	440;507;495;149;440;507;507	A2A3C3;O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;.;BAI2_HUMAN	M	455;440;507;507;440;507;507;149;495;445;486	ENSP00000381564:T455M;ENSP00000381555:T440M;ENSP00000362762:T507M;ENSP00000362759:T507M;ENSP00000381550:T440M;ENSP00000257070:T507M;ENSP00000435397:T507M;ENSP00000391071:T149M;ENSP00000381548:T495M;ENSP00000410921:T445M;ENSP00000437219:T486M	ENSP00000257070:T507M	T	-	2	0	BAI2	31980053	0.158000	0.22850	0.058000	0.19502	0.925000	0.55904	3.610000	0.54125	2.457000	0.83068	0.561000	0.74099	ACG	-	superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1		0.647	BAI2-015	KNOWN	basic|CCDS	protein_coding	BAI2	protein_coding	OTTHUMT00000381838.1	G	NM_001703		31980053	-1	no_errors	NM_001703	genbank	human	reviewed	54_36p	missense	SNP	0.013	A
SYNGAP1	8831	genome.wustl.edu	37	6	33411300	33411300	+	Missense_Mutation	SNP	G	G	A	rs145472959		TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr6:33411300G>A	ENST00000418600.2	+	15	3072	c.2971G>A	c.(2971-2973)Ggg>Agg	p.G991R	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.G991R|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.G932R	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	991			G -> R. {ECO:0000269|PubMed:21237447}.		dendrite development (GO:0016358)|negative regulation of axonogenesis (GO:0050771)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|pattern specification process (GO:0007389)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|receptor clustering (GO:0043113)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of MAPK cascade (GO:0043408)|regulation of synapse structure and activity (GO:0050803)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Rab GTPase activator activity (GO:0005097)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCTCTCTTCCGGGGTCCCCAA	0.597																																																0			6						G	ARG/GLY	0,4406		0,0,2203	164.0	174.0	171.0		2971	3.2	0.9	6	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	no	missense	SYNGAP1	NM_006772.2	125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	991/1344	33411300	1,13005	2203	4300	6503	33519278	SO:0001583	missense	8831			AB067525	CCDS34434.2	6p21.3	2010-06-25	2010-06-25		ENSG00000197283	ENSG00000197283			11497	protein-coding gene	gene with protein product		603384	"""synaptic Ras GTPase activating protein 1 homolog (rat)"""			9581761, 18323856	Standard	NM_006772		Approved	SYNGAP, RASA5, KIAA1938	uc011dri.2	Q96PV0	OTTHUMG00000031096	ENST00000418600.2:c.2971G>A	6.37:g.33411300G>A	ENSP00000403636:p.Gly991Arg		33519278	A2AB17|A2BEL6|A2BEL7|A8MQC4|Q8TCS2|Q9UGE2	Missense_Mutation	SNP	HMMSmart_SM00233,superfamily_PH domain-like,HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1	p.G976R	ENST00000418600.2	37	c.2926	CCDS34434.2	6	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604269	0.28534	0.0	1.16E-4	ENSG00000197283	ENST00000293748;ENST00000418600;ENST00000449372;ENST00000428982	T;T;T	0.17370	2.28;2.37;2.36	4.1	3.21	0.36854	.	0.692797	0.13603	N	0.375734	T	0.13884	0.0336	L	0.42245	1.32	0.38032	D	0.935204	D;D;D	0.58970	0.984;0.98;0.98	P;P;P	0.55260	0.772;0.662;0.662	T	0.03051	-1.1078	10	0.54805	T	0.06	.	8.8698	0.35309	0.0:0.0:0.7768:0.2232	.	991;991;991	Q96PV0;Q96PV0-2;Q96PV0-4	SYGP1_HUMAN;.;.	R	991;991;977;932	ENSP00000293748:G991R;ENSP00000403636:G991R;ENSP00000412475:G932R	ENSP00000293748:G991R	G	+	1	0	SYNGAP1	33519278	1.000000	0.71417	0.875000	0.34327	0.419000	0.31324	2.636000	0.46545	0.920000	0.36970	0.491000	0.48974	GGG	-	NULL		0.597	SYNGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNGAP1	protein_coding	OTTHUMT00000076151.4	G	XM_166407		33519278	+1	no_errors	NM_006772	genbank	human	validated	54_36p	missense	SNP	0.993	A
ARPP21	10777	genome.wustl.edu	37	3	35785377	35785377	+	Missense_Mutation	SNP	C	C	T	rs139862817	byFrequency	TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr3:35785377C>T	ENST00000187397.4	+	18	2408	c.1952C>T	c.(1951-1953)aCg>aTg	p.T651M	ARPP21_ENST00000417925.1_Missense_Mutation_p.T652M|ARPP21_ENST00000458225.1_Missense_Mutation_p.T652M|ARPP21_ENST00000444190.1_Missense_Mutation_p.T632M|ARPP21_ENST00000337271.5_Missense_Mutation_p.T632M|MIR128-2_ENST00000384893.1_RNA	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	651	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.T651M(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ACCTCAACCACGCAACAGTAC	0.478																																																1	Substitution - Missense(1)	lung(1)	3						C	MET/THR	0,4406		0,0,2203	125.0	119.0	121.0		1952	5.8	0.8	3	dbSNP_134	121	5,8595	4.3+/-15.6	0,5,4295	yes	missense	ARPP21	NM_016300.4	81	0,5,6498	TT,TC,CC		0.0581,0.0,0.0384	benign	651/813	35785377	5,13001	2203	4300	6503	35760381	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.1952C>T	3.37:g.35785377C>T	ENSP00000187397:p.Thr651Met		35760381	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H	p.T651M	ENST00000187397.4	37	c.1952	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848328	0.71603	0.0	5.81E-4	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	5.82	5.82	0.92795	.	0.460434	0.22270	N	0.062267	T	0.68393	0.2996	L	0.60455	1.87	0.25330	N	0.989049	D;D;P;D	0.89917	0.977;1.0;0.872;0.977	P;D;B;P	0.64595	0.595;0.927;0.391;0.595	T	0.61372	-0.7076	10	0.39692	T	0.17	-6.1246	18.2794	0.90092	0.0:1.0:0.0:0.0	.	652;174;651;632	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	M	652;632;632;651;652	ENSP00000414351:T652M;ENSP00000337792:T632M;ENSP00000405276:T632M;ENSP00000187397:T651M;ENSP00000412326:T652M	ENSP00000187397:T651M	T	+	2	0	ARPP21	35760381	1.000000	0.71417	0.759000	0.31340	0.919000	0.55068	4.747000	0.62141	2.740000	0.93945	0.655000	0.94253	ACG	-	NULL		0.478	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP-21	protein_coding	OTTHUMT00000253334.2	C	NM_198399		35760381	+1	no_errors	NM_016300	genbank	human	validated	54_36p	missense	SNP	0.978	T
KRT31	3881	genome.wustl.edu	37	17	39553627	39553627	+	Silent	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr17:39553627G>A	ENST00000251645.2	-	1	217	c.165C>T	c.(163-165)agC>agT	p.S55S		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	55	Head.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCTCCTTCTCGCTACCATTGA	0.622																																																0			17											88.0	87.0	88.0					17																	39553627		2203	4300	6503	36807153	SO:0001819	synonymous_variant	3881			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.165C>T	17.37:g.39553627G>A			36807153	Q9UE12	Silent	SNP	HMMPfam_Filament,PatternScan_IF	p.S55	ENST00000251645.2	37	c.165	CCDS11391.1	17																																																																																			-	HMMPfam_Filament		0.622	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT31	protein_coding	OTTHUMT00000257286.1	G	NM_002277		36807153	-1	no_errors	NM_002277	genbank	human	reviewed	54_36p	silent	SNP	0.813	A
BTBD9	114781	genome.wustl.edu	37	6	38561994	38561994	+	Missense_Mutation	SNP	G	G	A	rs150015110		TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr6:38561994G>A	ENST00000481247.1	-	3	446	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	BTBD9_ENST00000419706.2_Missense_Mutation_p.R40W|BTBD9_ENST00000403056.1_Missense_Mutation_p.R99W|BTBD9_ENST00000314100.6_Missense_Mutation_p.R31W|BTBD9_ENST00000408958.1_Missense_Mutation_p.R31W	NM_001099272.1|NM_052893.1	NP_001092742.1|NP_443125.1	Q96Q07	BTBD9_HUMAN	BTB (POZ) domain containing 9	99	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|circadian sleep/wake cycle, non-REM sleep (GO:0042748)|long-term memory (GO:0007616)|multicellular organismal iron ion homeostasis (GO:0060586)|regulation of synaptic vesicle endocytosis (GO:1900242)|sensory perception of temperature stimulus (GO:0050951)|serotonin metabolic process (GO:0042428)					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AGCGTTGCCCGCCCAGTGTAG	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		18278	0.001		0.0	False		,,,				2504	0.0															0			6											145.0	155.0	152.0					6																	38561994		2114	4261	6375	38669972	SO:0001583	missense	114781				CCDS43458.1, CCDS47418.1, CCDS54998.1	6p21	2014-01-28			ENSG00000183826	ENSG00000183826		"""BTB/POZ domain containing"""	21228	protein-coding gene	gene with protein product		611237				11572484	Standard	NM_052893		Approved	KIAA1880, dJ322I12.1	uc010jwx.3	Q96Q07	OTTHUMG00000014634	ENST00000481247.1:c.295C>T	6.37:g.38561994G>A	ENSP00000418751:p.Arg99Trp		38669972	Q494V9|Q494W1|Q96M00	Missense_Mutation	SNP	superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,HMMPfam_BACK,superfamily_Gal_bind_like,HMMPfam_F5_F8_type_C	p.R99W	ENST00000481247.1	37	c.295	CCDS47418.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	25.2	4.612032	0.87258	.	.	ENSG00000183826	ENST00000314100;ENST00000481247;ENST00000419706;ENST00000403056;ENST00000408958;ENST00000497373	T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.45	4.56	0.56223	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	T	0.75295	0.3830	M	0.65975	2.015	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.947;0.996	T	0.79799	-0.1651	10	0.72032	D	0.01	.	15.7299	0.77792	0.0:0.0:0.8622:0.1378	.	40;99	Q494V9;Q96Q07	.;BTBD9_HUMAN	W	31;99;40;99;31;31	ENSP00000323408:R31W;ENSP00000418751:R99W;ENSP00000415365:R40W;ENSP00000386121:R99W;ENSP00000386211:R31W;ENSP00000418201:R31W	ENSP00000323408:R31W	R	-	1	2	BTBD9	38669972	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.751000	0.98889	1.394000	0.46624	0.563000	0.77884	CGG	-	superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB		0.473	BTBD9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD9	protein_coding	OTTHUMT00000040433.2	G	NM_152733		38669972	-1	no_errors	NM_001099272	genbank	human	validated	54_36p	missense	SNP	1.000	A
LRRK2	120892	genome.wustl.edu	37	12	40728833	40728833	+	Missense_Mutation	SNP	G	G	A	rs77428810	byFrequency	TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr12:40728833G>A	ENST00000298910.7	+	40	5880	c.5822G>A	c.(5821-5823)cGt>cAt	p.R1941H		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1941	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> H (in PARK8). {ECO:0000269|PubMed:16272164}.		activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GCTGGGATTCGTCCCCGGATG	0.512													G|||	2	0.000399361	0.0008	0.0	5008	,	,		18654	0.0		0.001	False		,,,				2504	0.0															0			12	GRCh37	CM054774	LRRK2	M	rs77428810						124.0	114.0	117.0					12																	40728833		2203	4300	6503	39015100	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5822G>A	12.37:g.40728833G>A	ENSP00000298910:p.Arg1941His		39015100	A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_SSF52058,HMMPfam_LRR_1,superfamily_SSF52540,HMMPfam_Miro,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,superfamily_WD40_like,HMMSmart_WD40,PatternScan_RCC1_2	p.R1941H	ENST00000298910.7	37	c.5822	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	11.52	1.664198	0.29604	.	.	ENSG00000188906	ENST00000298910	T	0.66638	-0.22	4.85	4.85	0.62838	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.299046	0.39834	N	0.001241	T	0.50292	0.1607	N	0.17838	0.53	0.32192	N	0.578923	B;B	0.26935	0.019;0.164	B;B	0.24701	0.023;0.055	T	0.59579	-0.7428	10	0.44086	T	0.13	.	11.4816	0.50328	0.0829:0.0:0.9171:0.0	.	1941;1941	Q17RV3;Q5S007	.;LRRK2_HUMAN	H	1941	ENSP00000298910:R1941H	ENSP00000298910:R1941H	R	+	2	0	LRRK2	39015100	1.000000	0.71417	1.000000	0.80357	0.833000	0.47200	4.486000	0.60286	2.245000	0.73994	0.561000	0.74099	CGT	-	superfamily_Kinase_like,HMMPfam_Pkinase		0.512	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	protein_coding	OTTHUMT00000277179.1	G	XM_058513		39015100	+1	no_errors	NM_198578	genbank	human	reviewed	54_36p	missense	SNP	0.931	A
CNTN1	1272	genome.wustl.edu	37	12	41410562	41410562	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr12:41410562A>G	ENST00000551295.2	+	19	2380	c.2263A>G	c.(2263-2265)Aaa>Gaa	p.K755E	CNTN1_ENST00000348761.2_Missense_Mutation_p.K744E|CNTN1_ENST00000347616.1_Missense_Mutation_p.K755E|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	755	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AGAAGAATGGAAAAAAGTCAC	0.368																																																0			12											115.0	101.0	106.0					12																	41410562		2203	4300	6503	39696829	SO:0001583	missense	1272			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.2263A>G	12.37:g.41410562A>G	ENSP00000447006:p.Lys755Glu		39696829	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_V-set,PatternScan_N6_MTASE,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.K755E	ENST00000551295.2	37	c.2263	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	A	18.05	3.535947	0.64972	.	.	ENSG00000018236	ENST00000551295;ENST00000347616;ENST00000348761	T;T;T	0.58506	0.33;0.33;0.33	5.35	5.35	0.76521	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.150141	0.64402	D	0.000017	T	0.54367	0.1854	L	0.50333	1.59	0.80722	D	1	B;B	0.32467	0.321;0.372	B;B	0.39771	0.205;0.309	T	0.49224	-0.8962	10	0.06891	T	0.86	.	16.0444	0.80711	1.0:0.0:0.0:0.0	.	744;755	Q12860-2;Q12860	.;CNTN1_HUMAN	E	755;755;744	ENSP00000447006:K755E;ENSP00000325660:K755E;ENSP00000261160:K744E	ENSP00000325660:K755E	K	+	1	0	CNTN1	39696829	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.563000	0.60823	2.326000	0.78906	0.533000	0.62120	AAA	-	superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060		0.368	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	protein_coding	OTTHUMT00000403692.2	A	NM_001843		39696829	+1	no_errors	NM_001843	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
LRPPRC	10128	genome.wustl.edu	37	2	44116886	44116886	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr2:44116886A>C	ENST00000260665.7	-	37	4172	c.4115T>G	c.(4114-4116)tTc>tGc	p.F1372C	RNU6-1048P_ENST00000364054.1_RNA	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	1372	RNA-binding.				mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGGTTCAATGAAAGGGACAGG	0.373																																																0			2											87.0	86.0	87.0					2																	44116886		2203	4300	6503	43970390	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.4115T>G	2.37:g.44116886A>C	ENSP00000260665:p.Phe1372Cys		43970390	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	superfamily_SSF48452,HMMPfam_PPR	p.F1372C	ENST00000260665.7	37	c.4115	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	A	17.10	3.302977	0.60195	.	.	ENSG00000138095	ENST00000260665	T	0.76839	-1.05	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.87418	0.6172	M	0.69823	2.125	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88628	0.3167	10	0.72032	D	0.01	-15.0129	16.0246	0.80532	1.0:0.0:0.0:0.0	.	1372	P42704	LPPRC_HUMAN	C	1372	ENSP00000260665:F1372C	ENSP00000260665:F1372C	F	-	2	0	LRPPRC	43970390	1.000000	0.71417	0.886000	0.34754	0.404000	0.30871	7.425000	0.80255	2.175000	0.68902	0.533000	0.62120	TTC	-	NULL		0.373	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	protein_coding	OTTHUMT00000327823.1	A	NM_133259		43970390	-1	no_errors	NM_133259	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
SALL4	57167	genome.wustl.edu	37	20	50408387	50408387	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr20:50408387G>T	ENST00000217086.4	-	2	746	c.635C>A	c.(634-636)cCg>cAg	p.P212Q	SALL4_ENST00000395997.3_Missense_Mutation_p.P212Q|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	212					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGGACCCACGGGATGCTGTT	0.622																																																0			20											69.0	70.0	70.0					20																	50408387		2203	4300	6503	49841794	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.635C>A	20.37:g.50408387G>T	ENSP00000217086:p.Pro212Gln		49841794	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667	p.P212Q	ENST00000217086.4	37	c.635	CCDS13438.1	20	.	.	.	.	.	.	.	.	.	.	G	19.22	3.784648	0.70222	.	.	ENSG00000101115	ENST00000217086;ENST00000395997	T;T	0.69306	-0.39;-0.39	5.19	3.23	0.37069	.	0.433122	0.17588	N	0.168862	T	0.80374	0.4611	M	0.87381	2.88	0.80722	D	1	D;D	0.64830	0.994;0.989	P;P	0.60682	0.878;0.774	T	0.80876	-0.1186	10	0.87932	D	0	-26.3623	10.4443	0.44483	0.073:0.135:0.792:0.0	.	212;212	A2A2D8;Q9UJQ4	.;SALL4_HUMAN	Q	212	ENSP00000217086:P212Q;ENSP00000379319:P212Q	ENSP00000217086:P212Q	P	-	2	0	SALL4	49841794	1.000000	0.71417	0.600000	0.28864	0.977000	0.68977	7.846000	0.86887	0.571000	0.29365	0.655000	0.94253	CCG	-	NULL		0.622	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	protein_coding	OTTHUMT00000079738.3	G			49841794	-1	no_errors	NM_020436	genbank	human	reviewed	54_36p	missense	SNP	0.998	T
ZNF217	7764	genome.wustl.edu	37	20	52198016	52198016	+	Silent	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr20:52198016G>A	ENST00000371471.2	-	2	1775	c.1350C>T	c.(1348-1350)ccC>ccT	p.P450P	ZNF217_ENST00000302342.3_Silent_p.P450P|ZNF217_ENST00000540425.1_5'Flank			O75362	ZN217_HUMAN	zinc finger protein 217	450					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GGATTCCTTCGGGAAGCCCAT	0.602																																																0			20											66.0	63.0	64.0					20																	52198016		2203	4300	6503	51631423	SO:0001819	synonymous_variant	7764			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1350C>T	20.37:g.52198016G>A			51631423	E1P5Y6|Q14DB8	Silent	SNP	HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667	p.P450	ENST00000371471.2	37	c.1350	CCDS13443.1	20																																																																																			-	NULL		0.602	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	protein_coding	OTTHUMT00000079757.2	G	NM_006526		51631423	-1	no_errors	NM_006526	genbank	human	validated	54_36p	silent	SNP	0.005	A
PRKG1	5592	genome.wustl.edu	37	10	54040667	54040667	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr10:54040667G>T	ENST00000401604.2	+	13	1671	c.1477G>T	c.(1477-1479)Gat>Tat	p.D493Y	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373980.4_Missense_Mutation_p.D508Y|PRKG1_ENST00000373975.2_Missense_Mutation_p.D211Y|PRKG1_ENST00000373985.1_Missense_Mutation_p.D481Y			Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	493	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|dendrite development (GO:0016358)|forebrain development (GO:0030900)|negative regulation of platelet aggregation (GO:0090331)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|regulation of GTPase activity (GO:0043087)|relaxation of vascular smooth muscle (GO:0060087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TCTCATCCTAGATCACCGAGG	0.388																																																0			10											122.0	106.0	111.0					10																	54040667		2203	4300	6503	53710673	SO:0001583	missense	5592				CCDS7244.1	10q11.2	2009-07-10			ENSG00000185532	ENSG00000185532	2.7.11.1		9414	protein-coding gene	gene with protein product		176894		PRKGR1B, PRKG1B		2792381, 1544322	Standard	NM_001098512		Approved	PGK, PKG	uc001jjo.3	Q13976	OTTHUMG00000018248	ENST00000401604.2:c.1477G>T	10.37:g.54040667G>T	ENSP00000384200:p.Asp493Tyr		53710673	A5YM56|B3KSF3|E2PU10|P14619|Q5JP05|Q5JSJ6|Q6P5T7	Missense_Mutation	SNP	superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding,PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133	p.D508Y	ENST00000401604.2	37	c.1522	CCDS44399.1	10	.	.	.	.	.	.	.	.	.	.	G	26.0	4.698938	0.88830	.	.	ENSG00000185532	ENST00000401604;ENST00000373985;ENST00000373980;ENST00000332193;ENST00000373975	T;T;T	0.11604	2.76;2.76;2.76	5.47	5.47	0.80525	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.47192	0.1432	H	0.94582	3.555	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.991;0.992;0.995	T	0.62215	-0.6901	10	0.87932	D	0	-19.6257	18.9329	0.92574	0.0:0.0:1.0:0.0	.	211;508;493	B3KSF3;Q13976-2;Q13976	.;.;KGP1_HUMAN	Y	493;481;508;211;105	ENSP00000384200:D493Y;ENSP00000363097:D481Y;ENSP00000363092:D508Y	ENSP00000327642:D211Y	D	+	1	0	PRKG1	53710673	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.860000	0.99555	2.582000	0.87167	0.591000	0.81541	GAT	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase		0.388	PRKG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG1	protein_coding		G			53710673	+1	no_errors	NM_006258	genbank	human	validated	54_36p	missense	SNP	1.000	T
BMP7	655	genome.wustl.edu	37	20	55746159	55746159	+	Silent	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr20:55746159G>A	ENST00000395863.3	-	7	1657	c.1152C>T	c.(1150-1152)caC>caT	p.H384H	BMP7_ENST00000395864.3_Silent_p.H318H|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	384					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GGTTGATGAAGTGGACCTGAA	0.537																																																0			20											101.0	83.0	89.0					20																	55746159		2203	4300	6503	55179566	SO:0001819	synonymous_variant	655				CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.1152C>T	20.37:g.55746159G>A			55179566	Q9H512|Q9NTQ7	Silent	SNP	HMMPfam_TGFb_propeptide,superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204,PatternScan_TGF_BETA_1	p.H384	ENST00000395863.3	37	c.1152	CCDS13455.1	20																																																																																			-	superfamily_Cystine-knot cytokines,HMMPfam_TGF_beta,HMMSmart_SM00204		0.537	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BMP7	protein_coding	OTTHUMT00000079831.2	G			55179566	-1	no_errors	NM_001719	genbank	human	reviewed	54_36p	silent	SNP	0.999	A
DST	667	genome.wustl.edu	37	6	56481002	56481002	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr6:56481002C>G	ENST00000370765.6	-	24	7370	c.7263G>C	c.(7261-7263)caG>caC	p.Q2421H	DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1728	Asp-rich.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGAGGCCTTCCTGATACTTTT	0.428																																																0			6											97.0	88.0	91.0					6																	56481002		2203	4300	6503	56588961	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.7263G>C	6.37:g.56481002C>G	ENSP00000359801:p.Gln2421His		56588961	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	HMMSmart_SPEC,superfamily_Spectrin,HMMPfam_Spectrin,superfamily_SSF75399,HMMSmart_PLEC,HMMPfam_Plectin	p.Q2421H	ENST00000370765.6	37	c.7263	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	C	12.46	1.944725	0.34283	.	.	ENSG00000151914	ENST00000370765	T	0.68331	-0.32	5.72	1.74	0.24563	.	.	.	.	.	T	0.33177	0.0854	.	.	.	0.09310	N	0.999999	B	0.11235	0.004	B	0.12156	0.007	T	0.05920	-1.0856	7	0.59425	D	0.04	.	6.0051	0.19541	0.0:0.5089:0.2307:0.2603	.	2421	Q03001-3	.	H	2421	ENSP00000359801:Q2421H	ENSP00000359801:Q2421H	Q	-	3	2	DST	56588961	0.998000	0.40836	0.997000	0.53966	0.804000	0.45430	0.556000	0.23438	0.026000	0.15269	0.650000	0.86243	CAG	-	superfamily_SSF75399		0.428	DST-010	KNOWN	basic|CCDS	protein_coding	DST	protein_coding	OTTHUMT00000041027.2	C	NM_001723		56588961	-1	no_errors	NM_001723	genbank	human	reviewed	54_36p	missense	SNP	0.990	G
ZSCAN5B	342933	genome.wustl.edu	37	19	56701325	56701325	+	Silent	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr19:56701325G>A	ENST00000586855.2	-	5	1672	c.1359C>T	c.(1357-1359)aaC>aaT	p.N453N	ZSCAN5B_ENST00000358992.3_Silent_p.N453N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	453					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAACGTTCAGGTTCCCCTTGT	0.552																																																0			19											91.0	93.0	92.0					19																	56701325		2086	4244	6330	61393137	SO:0001819	synonymous_variant	342933				CCDS46203.1	19q13.42	2013-01-08			ENSG00000197213	ENSG00000197213		"""-"", ""Zinc fingers, C2H2-type"""	34246	protein-coding gene	gene with protein product							Standard	NM_001080456		Approved	ZNF495B, ZNF371	uc010ygh.2	A6NJL1		ENST00000586855.2:c.1359C>T	19.37:g.56701325G>A			61393137		Silent	SNP	HMMPfam_SCAN,HMMSmart_SM00431,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.N405	ENST00000586855.2	37	c.1215	CCDS46203.1	19																																																																																			-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.552	ZSCAN5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN5B	protein_coding	OTTHUMT00000457834.2	G	NM_001080456		61393137	-1	no_errors	NM_001080456	genbank	human	validated	54_36p	silent	SNP	0.025	A
GANAB	23193	genome.wustl.edu	37	11	62400682	62400682	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr11:62400682T>C	ENST00000356638.3	-	7	708	c.692A>G	c.(691-693)aAa>aGa	p.K231R	GANAB_ENST00000534422.1_5'UTR|GANAB_ENST00000540933.1_Missense_Mutation_p.K134R|GANAB_ENST00000534779.1_Missense_Mutation_p.K139R|GANAB_ENST00000346178.4_Missense_Mutation_p.K253R	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	231					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	AGAGTGAGTTTTGAATGTCTC	0.527																																					Melanoma(23;1005 1074 15747 18937)											0			11											126.0	128.0	127.0					11																	62400682		2202	4299	6501	62157258	SO:0001583	missense	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.692A>G	11.37:g.62400682T>C	ENSP00000349053:p.Lys231Arg		62157258	A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	HMMPfam_Glyco_hydro_31,PatternScan_GLYCOSYL_HYDROL_F31_1,PatternScan_GLYCOSYL_HYDROL_F31_2	p.K253R	ENST00000356638.3	37	c.758	CCDS8026.1	11	.	.	.	.	.	.	.	.	.	.	T	14.40	2.523755	0.44866	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.88741	-2.4;-2.35;-1.97;-2.42	5.14	5.14	0.70334	Glycoside hydrolase-type carbohydrate-binding (1);	0.000000	0.85682	D	0.000000	D	0.84817	0.5556	L	0.33339	1.005	0.80722	D	1	B;B;B;B	0.31077	0.1;0.204;0.047;0.307	B;B;B;B	0.36922	0.1;0.143;0.068;0.236	T	0.83308	-0.0024	10	0.40728	T	0.16	-13.5459	12.9629	0.58468	0.0:0.0:0.0:1.0	.	117;139;231;253	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	R	253;231;139;134	ENSP00000340466:K253R;ENSP00000349053:K231R;ENSP00000435306:K139R;ENSP00000442962:K134R	ENSP00000340466:K253R	K	-	2	0	GANAB	62157258	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.884000	0.75600	2.159000	0.67721	0.455000	0.32223	AAA	-	NULL		0.527	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	protein_coding	OTTHUMT00000395689.1	T	NM_198334		62157258	-1	no_errors	NM_198335	genbank	human	validated	54_36p	missense	SNP	1.000	C
LLPH	84298	genome.wustl.edu	37	12	66522820	66522820	+	Missense_Mutation	SNP	G	G	A	rs574607020	byFrequency	TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr12:66522820G>A	ENST00000266604.2	-	2	137	c.67C>T	c.(67-69)Cca>Tca	p.P23S	TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000539652.1_3'UTR|LLPH_ENST00000446587.2_Missense_Mutation_p.P23S|RP11-745O10.2_ENST00000510317.2_RNA	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN	LLP homolog, long-term synaptic facilitation (Aplysia)	23	Lys-rich.						poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						GCCTCCTTTGGGGCATTCTTT	0.393																																																0			12											90.0	87.0	88.0					12																	66522820		2203	4297	6500	64809087	SO:0001583	missense	84298			AK057947	CCDS8974.1	12q14.3	2014-05-09	2008-10-02	2008-10-02	ENSG00000139233	ENSG00000139233			28229	protein-coding gene	gene with protein product	"""human LAPS18-like protein"""		"""chromosome 12 open reading frame 31"""	C12orf31		12477932	Standard	NM_032338		Approved	MGC14817, hLLP	uc010ssw.2	Q9BRT6	OTTHUMG00000168959	ENST00000266604.2:c.67C>T	12.37:g.66522820G>A	ENSP00000266604:p.Pro23Ser		64809087	Q3B766	Missense_Mutation	SNP	HMMPfam_Laps	p.P23S	ENST00000266604.2	37	c.67	CCDS8974.1	12	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298010	0.81025	.	.	ENSG00000139233	ENST00000266604;ENST00000446587	.	.	.	4.13	4.13	0.48395	.	0.000000	0.85682	D	0.000000	T	0.79816	0.4511	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82348	-0.0502	8	.	.	.	-12.6244	16.9492	0.86239	0.0:0.0:1.0:0.0	.	23	Q9BRT6	LLPH_HUMAN	S	23	.	.	P	-	1	0	LLPH	64809087	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	8.494000	0.90477	2.283000	0.76528	0.467000	0.42956	CCA	-	HMMPfam_Laps		0.393	LLPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LLPH	protein_coding	OTTHUMT00000401752.1	G	NM_032338		64809087	-1	no_errors	NM_032338	genbank	human	validated	54_36p	missense	SNP	1.000	A
ADAM21P1	145241	genome.wustl.edu	37	14	70712581	70712581	+	RNA	SNP	C	C	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr14:70712581C>A	ENST00000530196.1	-	0	1937					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CAGATATGTGCATCCTTAAAT	0.438																																																0			14																																								69782334			0					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70712581C>A			69782334		RNA	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			-	-		0.438	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P	pseudogene	OTTHUMT00000390451.1	C	NG_002467		69782334	-1	pseudogene	NR_003951	genbank	human	validated	54_36p	rna	SNP	0.036	A
HMGCR	3156	genome.wustl.edu	37	5	74647395	74647395	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr5:74647395G>A	ENST00000287936.4	+	11	1492	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	HMGCR_ENST00000343975.5_Missense_Mutation_p.E446K|HMGCR_ENST00000511206.1_Missense_Mutation_p.E446K	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	446	Linker.				aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|coenzyme A metabolic process (GO:0015936)|isoprenoid biosynthetic process (GO:0008299)|myoblast differentiation (GO:0045445)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of vasodilation (GO:0045908)|negative regulation of wound healing (GO:0061045)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein tetramerization (GO:0051262)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|ubiquinone metabolic process (GO:0006743)|visual learning (GO:0008542)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|peroxisomal membrane (GO:0005778)	coenzyme binding (GO:0050662)|hydroxymethylglutaryl-CoA reductase (NADPH) activity (GO:0004420)|hydroxymethylglutaryl-CoA reductase activity (GO:0042282)|NADPH binding (GO:0070402)			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Fluvastatin(DB01095)|Lovastatin(DB00227)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	TCGGCCTAATGAAGAATGTCT	0.413																																																0			5											96.0	90.0	92.0					5																	74647395		2203	4300	6503	74683151	SO:0001583	missense	3156				CCDS4027.1, CCDS47234.1	5q13.3-q14	2012-10-02	2010-04-30		ENSG00000113161	ENSG00000113161	1.1.1.88, 1.1.1.34		5006	protein-coding gene	gene with protein product	"""hydroxymethylglutaryl-CoA reductase"", ""3-hydroxy-3-methylglutaryl CoA reductase (NADPH)"""	142910	"""3-hydroxy-3-methylglutaryl-Coenzyme A reductase"""				Standard	NM_000859		Approved		uc003kdp.3	P04035	OTTHUMG00000102069	ENST00000287936.4:c.1336G>A	5.37:g.74647395G>A	ENSP00000287936:p.Glu446Lys		74683151	B7Z3Y9|Q8N190	Missense_Mutation	SNP	superfamily_Multidrug efflux transporter AcrB transmembrane domain,superfamily_Substrate-binding domain of HMG-CoA reductase,HMMPfam_HMG-CoA_red,superfamily_NAD-binding domain of HMG-CoA reductase,PatternScan_HMG_COA_REDUCTASE_1,PatternScan_HMG_COA_REDUCTASE_2,PatternScan_HMG_COA_REDUCTASE_3	p.E446K	ENST00000287936.4	37	c.1336	CCDS4027.1	5	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446232	0.63178	.	.	ENSG00000113161	ENST00000511206;ENST00000544469;ENST00000287936;ENST00000343975	T;T;T	0.42131	0.98;0.98;0.98	5.74	5.74	0.90152	Hydroxymethylglutaryl-CoA reductase, class I/II, substrate-binding (1);	0.238543	0.49305	D	0.000144	T	0.40694	0.1127	L	0.42245	1.32	0.80722	D	1	B;B;B	0.18610	0.006;0.029;0.006	B;B;B	0.19391	0.003;0.025;0.003	T	0.15235	-1.0444	10	0.51188	T	0.08	-13.4121	18.0985	0.89498	0.0:0.0:1.0:0.0	.	446;446;446	B2R649;P04035-2;P04035	.;.;HMDH_HUMAN	K	446;377;446;446	ENSP00000426745:E446K;ENSP00000287936:E446K;ENSP00000340816:E446K	ENSP00000287936:E446K	E	+	1	0	HMGCR	74683151	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	7.584000	0.82572	2.716000	0.92895	0.561000	0.74099	GAA	-	superfamily_Substrate-binding domain of HMG-CoA reductase		0.413	HMGCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCR	protein_coding	OTTHUMT00000219877.2	G			74683151	+1	no_errors	NM_000859	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
PI15	51050	genome.wustl.edu	37	8	75737573	75737573	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr8:75737573C>A	ENST00000260113.2	+	2	268	c.89C>A	c.(88-90)tCa>tAa	p.S30*	RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Nonsense_Mutation_p.S30*|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	30						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TCCACTGACTCATCCCCGCCA	0.493																																																0			8											158.0	151.0	153.0					8																	75737573		2203	4300	6503	75900128	SO:0001587	stop_gained	51050			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.89C>A	8.37:g.75737573C>A	ENSP00000260113:p.Ser30*		75900128	Q68CY1	Nonsense_Mutation	SNP	PatternScan_CRISP_1,superfamily_SCP-like_extracellular,HMMSmart_SCP,HMMPfam_SCP,PatternScan_CRISP_2	p.S30*	ENST00000260113.2	37	c.89	CCDS6218.1	8	.	.	.	.	.	.	.	.	.	.	C	39	7.620620	0.98393	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	.	.	.	4.77	4.77	0.60923	.	0.545793	0.18229	N	0.147637	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	5.923	0.19093	0.0:0.7732:0.0:0.2268	.	.	.	.	X	30	.	ENSP00000260113:S30X	S	+	2	0	PI15	75900128	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.341000	0.59335	2.652000	0.90054	0.561000	0.74099	TCA	-	NULL		0.493	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PI15	protein_coding	OTTHUMT00000379115.1	C	NM_015886		75900128	+1	no_errors	NM_015886	genbank	human	reviewed	54_36p	nonsense	SNP	0.998	A
LRRTM4	80059	genome.wustl.edu	37	2	77746301	77746301	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr2:77746301G>T	ENST00000409093.1	-	3	1030	c.694C>A	c.(694-696)Cgc>Agc	p.R232S	LRRTM4_ENST00000409282.1_Missense_Mutation_p.R233S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.R233S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.R232S|LRRTM4_ENST00000409088.3_Missense_Mutation_p.R232S			Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	232					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|regulation of presynaptic membrane organization (GO:1901629)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.R232C(1)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		TAAATTGAGCGGAGGTTGAAG	0.433																																																1	Substitution - Missense(1)	pancreas(1)	2											59.0	58.0	58.0					2																	77746301		1882	4102	5984	77599809	SO:0001583	missense	80059			AK122612	CCDS46346.1, CCDS46347.1, CCDS74530.1	2p12	2008-02-05			ENSG00000176204	ENSG00000176204			19411	protein-coding gene	gene with protein product		610870				12676565	Standard	NM_024993		Approved	FLJ12568	uc002snr.3	Q86VH4	OTTHUMG00000152842	ENST00000409093.1:c.694C>A	2.37:g.77746301G>T	ENSP00000386357:p.Arg232Ser		77599809	Q4FZ98|Q6UXJ7	Missense_Mutation	SNP	HMMSmart_LRRNT,superfamily_SSF52058,HMMSmart_LRR_TYP,HMMPfam_LRR_1	p.R232S	ENST00000409093.1	37	c.694	CCDS46346.1	2	.	.	.	.	.	.	.	.	.	.	G	17.87	3.495747	0.64186	.	.	ENSG00000176204	ENST00000409911;ENST00000409884;ENST00000409093;ENST00000409088;ENST00000409282	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.64305	0.2586	L	0.44542	1.39	0.80722	D	1	D;D;D	0.58268	0.982;0.977;0.982	P;P;P	0.61132	0.884;0.815;0.884	T	0.63005	-0.6733	10	0.51188	T	0.08	.	18.4529	0.90710	0.0:0.0:1.0:0.0	.	233;232;232	Q4KMX1;Q86VH4-2;Q86VH4	.;.;LRRT4_HUMAN	S	233;232;232;232;233	ENSP00000387228:R233S;ENSP00000387297:R232S;ENSP00000386357:R232S;ENSP00000386236:R232S;ENSP00000386286:R233S	ENSP00000386236:R232S	R	-	1	0	LRRTM4	77599809	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	6.625000	0.74248	2.689000	0.91719	0.655000	0.94253	CGC	-	superfamily_SSF52058		0.433	LRRTM4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRRTM4	protein_coding	OTTHUMT00000328225.1	G	NM_024993		77599809	-1	no_errors	NM_024993	genbank	human	provisional	54_36p	missense	SNP	1.000	T
WDFY3	23001	genome.wustl.edu	37	4	85742327	85742327	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr4:85742327T>C	ENST00000295888.4	-	11	1908	c.1501A>G	c.(1501-1503)Agg>Ggg	p.R501G	WDFY3_ENST00000322366.6_Missense_Mutation_p.R501G	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	501					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCAACCTCCCTGAACACGTCT	0.368																																																0			4											81.0	82.0	82.0					4																	85742327		2203	4299	6502	85961351	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1501A>G	4.37:g.85742327T>C	ENSP00000295888:p.Arg501Gly		85961351	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	superfamily_ARM repeat,superfamily_Concanavalin A-like lectins/glucanases,superfamily_Cyclin-like,superfamily_PH domain-like,superfamily_BEACH domain,HMMPfam_Beach,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_FYVE/PHD zinc finger	p.R501G	ENST00000295888.4	37	c.1501	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	T	17.49	3.402792	0.62288	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.51817	0.69;0.69	5.81	4.62	0.57501	Armadillo-like helical (1);	0.043951	0.85682	D	0.000000	T	0.61502	0.2352	M	0.78049	2.395	0.58432	D	0.999999	D;D	0.54047	0.964;0.964	P;P	0.53549	0.729;0.535	T	0.65857	-0.6066	10	0.62326	D	0.03	.	13.1252	0.59351	0.0:0.0:0.1338:0.8662	.	501;501	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	G	501	ENSP00000318466:R501G;ENSP00000295888:R501G	ENSP00000295888:R501G	R	-	1	2	WDFY3	85961351	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.198000	0.51035	1.007000	0.39238	-0.438000	0.05819	AGG	-	superfamily_ARM repeat		0.368	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	protein_coding	OTTHUMT00000252811.2	T	NM_014991		85961351	-1	no_errors	NM_014991	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
AC092835.2	0	genome.wustl.edu	37	2	95880913	95880913	+	lincRNA	SNP	C	C	G			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr2:95880913C>G	ENST00000425953.1	+	0	2192																											CAGGTCTTATCCAGCACCAGA	0.493																																																0			2																																								95244640			344065																															2.37:g.95880913C>G			95244640		Missense_Mutation	SNP	HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.I377M	ENST00000425953.1	37	c.1131		2																																																																																			-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.493	AC092835.2-001	KNOWN	basic|exp_conf	lincRNA	LOC344065	lincRNA	OTTHUMT00000338653.1	C			95244640	+1	no_errors	XM_292895	genbank	human	model	54_36p	missense	SNP	0.000	G
AC092835.2	0	genome.wustl.edu	37	2	95881240	95881240	+	lincRNA	SNP	A	A	C			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr2:95881240A>C	ENST00000425953.1	+	0	2192																											GCCAGAGTTCATCCCTCTCTC	0.423																																																0			2																																								95244967			344065																															2.37:g.95881240A>C			95244967		Silent	SNP	HMMSmart_SM00349,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers	p.S486	ENST00000425953.1	37	c.1458		2																																																																																			-	HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers		0.423	AC092835.2-001	KNOWN	basic|exp_conf	lincRNA	LOC344065	lincRNA	OTTHUMT00000338653.1	A			95244967	+1	no_errors	XM_292895	genbank	human	model	54_36p	silent	SNP	0.060	C
CYLC2	1539	genome.wustl.edu	37	9	105767266	105767266	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr9:105767266G>T	ENST00000374798.3	+	5	423	c.353G>T	c.(352-354)gGt>gTt	p.G118V	CYLC2_ENST00000487798.1_Missense_Mutation_p.G118V	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	118	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GGTAAGAAAGGTGAAGACAAG	0.294																																																0			9											51.0	53.0	52.0					9																	105767266		2200	4296	6496	104807087	SO:0001583	missense	1539			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.353G>T	9.37:g.105767266G>T	ENSP00000420256:p.Gly118Val		104807087	B2R8F4|Q5VVJ9	Missense_Mutation	SNP	NULL	p.G118V	ENST00000374798.3	37	c.353	CCDS35085.1	9	.	.	.	.	.	.	.	.	.	.	g	0.943	-0.708984	0.03230	.	.	ENSG00000155833	ENST00000374798;ENST00000487798	T;T	0.15256	2.44;2.44	3.36	-6.72	0.01755	.	1.865220	0.02997	N	0.147673	T	0.04770	0.0129	N	0.02011	-0.69	0.09310	N	1	B	0.32160	0.358	B	0.30495	0.116	T	0.19257	-1.0311	10	0.19590	T	0.45	7.0246	2.5295	0.04699	0.521:0.2302:0.1336:0.1151	.	118	Q14093	CYLC2_HUMAN	V	118	ENSP00000420256:G118V;ENSP00000417674:G118V	ENSP00000420256:G118V	G	+	2	0	CYLC2	104807087	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-5.632000	0.00108	-2.488000	0.00518	-1.411000	0.01122	GGT	-	NULL		0.294	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	CYLC2	protein_coding	OTTHUMT00000053463.3	G	NM_001340		104807087	+1	no_errors	NM_001340	genbank	human	reviewed	54_36p	missense	SNP	0.038	T
SYPL2	284612	genome.wustl.edu	37	1	110020666	110020666	+	Intron	SNP	G	G	C			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr1:110020666G>C	ENST00000369872.3	+	5	864				SYPL2_ENST00000401021.3_Intron	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2						cellular calcium ion homeostasis (GO:0006874)|substantia nigra development (GO:0021762)	integral component of synaptic vesicle membrane (GO:0030285)	transporter activity (GO:0005215)			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		AGCAGCACCAGCCCTGCTGCC	0.647																																																0			1											16.0	18.0	17.0					1																	110020666		2088	4226	6314	109822189	SO:0001627	intron_variant	284612			AK131459	CCDS41365.1	1p13.3	2008-02-05			ENSG00000143028	ENSG00000143028			27638	protein-coding gene	gene with protein product	"""mitsugumin-29"""					12975309	Standard	NM_001040709		Approved	Mg29	uc001dxp.3	Q5VXT5	OTTHUMG00000010969	ENST00000369872.3:c.648+35G>C	1.37:g.110020666G>C			109822189	A8K0E8|A8KAL7|I0IT67|Q6ZMX1	Missense_Mutation	SNP	HMMPfam_MARVEL	p.S228T	ENST00000369872.3	37	c.683	CCDS41365.1	1																																																																																			-	HMMPfam_MARVEL		0.647	SYPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYPL2	protein_coding	OTTHUMT00000030191.1	G	NM_001006603		109822189	+1	no_errors	ENST00000401021	ensembl	human	known	54_36p	missense	SNP	0.000	C
TPCN1	53373	genome.wustl.edu	37	12	113711381	113711381	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr12:113711381G>A	ENST00000335509.6	+	10	1164	c.850G>A	c.(850-852)Gat>Aat	p.D284N	TPCN1_ENST00000392569.4_Missense_Mutation_p.D216N|TPCN1_ENST00000550785.1_Missense_Mutation_p.D356N|TPCN1_ENST00000541517.1_Missense_Mutation_p.D356N	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	284					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CAGTTTCCCAGATGTGATGAT	0.542																																																0			12											309.0	221.0	251.0					12																	113711381		2203	4300	6503	112195764	SO:0001583	missense	53373			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.850G>A	12.37:g.113711381G>A	ENSP00000335300:p.Asp284Asn		112195764	A7E258|Q86XS9|Q8NC20	Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,PatternScan_LECTIN_LEGUME_BETA	p.D284N	ENST00000335509.6	37	c.850	CCDS31908.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.514107	0.96402	.	.	ENSG00000186815	ENST00000335509;ENST00000550785;ENST00000541517;ENST00000392569	D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27	5.32	5.32	0.75619	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99248	0.9738	M	0.86651	2.83	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.85130	0.997;0.984;0.996	D	0.99445	1.0939	10	0.87932	D	0	-14.5479	19.0009	0.92834	0.0:0.0:1.0:0.0	.	284;356;284	A5PKY2;Q9ULQ1-3;Q9ULQ1	.;.;TPC1_HUMAN	N	284;356;356;216	ENSP00000335300:D284N;ENSP00000448083:D356N;ENSP00000438125:D356N;ENSP00000376350:D216N	ENSP00000335300:D284N	D	+	1	0	TPCN1	112195764	1.000000	0.71417	0.954000	0.39281	0.966000	0.64601	9.382000	0.97209	2.483000	0.83821	0.655000	0.94253	GAT	-	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans		0.542	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN1	protein_coding	OTTHUMT00000405156.3	G	NM_017901		112195764	+1	no_errors	NM_017901	genbank	human	validated	54_36p	missense	SNP	1.000	A
CSMD3	114788	genome.wustl.edu	37	8	113812435	113812435	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr8:113812435G>C	ENST00000297405.5	-	13	2172	c.1928C>G	c.(1927-1929)aCg>aGg	p.T643R	CSMD3_ENST00000455883.2_Missense_Mutation_p.T539R|CSMD3_ENST00000352409.3_Missense_Mutation_p.T643R|CSMD3_ENST00000343508.3_Missense_Mutation_p.T603R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	643	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.T643M(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTTTCGTCCGTTTGAAGGTG	0.388										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																						1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	8											146.0	129.0	134.0					8																	113812435		2203	4300	6503	113881611	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1928C>G	8.37:g.113812435G>C	ENSP00000297405:p.Thr643Arg		113881611	Q96PZ3	Missense_Mutation	SNP	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032,PatternScan_GLYCOSYL_HYDROL_F10	p.T643R	ENST00000297405.5	37	c.1928	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	27.0	4.789402	0.90367	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.83	5.83	0.93111	CUB (5);	0.082034	0.51477	D	0.000100	T	0.65863	0.2732	M	0.85777	2.775	0.44595	D	0.997565	D;D;D	0.65815	0.979;0.968;0.995	D;D;P	0.66847	0.912;0.947;0.905	T	0.67461	-0.5665	10	0.52906	T	0.07	.	20.1236	0.97970	0.0:0.0:1.0:0.0	.	539;643;603	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	R	603;643;539;643	ENSP00000345799:T603R;ENSP00000297405:T643R;ENSP00000412263:T539R;ENSP00000343124:T643R	ENSP00000297405:T643R	T	-	2	0	CSMD3	113881611	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	9.643000	0.98464	2.765000	0.95021	0.555000	0.69702	ACG	-	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042		0.388	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113881611	-1	no_errors	NM_198123	genbank	human	validated	54_36p	missense	SNP	1.000	C
KIAA1958	158405	genome.wustl.edu	37	9	115421782	115421782	+	Silent	SNP	C	C	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr9:115421782C>T	ENST00000337530.6	+	4	1880	c.1584C>T	c.(1582-1584)cgC>cgT	p.R528R	KIAA1958_ENST00000536272.1_Silent_p.R556R	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	528										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CGCGTTCTCGCAACATCGTCT	0.567																																																0			9											62.0	53.0	56.0					9																	115421782		2203	4300	6503	114461603	SO:0001819	synonymous_variant	158405			AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1584C>T	9.37:g.115421782C>T			114461603	B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	NULL	p.R528	ENST00000337530.6	37	c.1584	CCDS35108.1	9																																																																																			-	NULL		0.567	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	KIAA1958	protein_coding	OTTHUMT00000053690.1	C	NM_133465		114461603	+1	no_errors	NM_133465	genbank	human	predicted	54_36p	silent	SNP	1.000	T
PCDHA13	56136	genome.wustl.edu	37	5	140262113	140262113	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr5:140262113A>G	ENST00000289272.2	+	1	260	c.260A>G	c.(259-261)aAt>aGt	p.N87S	PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.N87S|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	87	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTTTGTGAATTCTCGGATC	0.602																																					Melanoma(147;1739 1852 5500 27947 37288)											0			5											110.0	122.0	118.0					5																	140262113		2203	4297	6500	140242297	SO:0001583	missense	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.260A>G	5.37:g.140262113A>G	ENSP00000289272:p.Asn87Ser		140242297	O75277	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.N87S	ENST00000289272.2	37	c.260	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	A	15.93	2.977903	0.53720	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.27720	1.65;1.65	5.58	5.58	0.84498	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33585	0.0868	L	0.43598	1.365	0.23962	N	0.996335	P;P;P	0.46395	0.877;0.779;0.834	B;P;B	0.44623	0.136;0.455;0.146	T	0.18713	-1.0328	9	0.46703	T	0.11	.	14.7278	0.69357	1.0:0.0:0.0:0.0	.	87;87;87	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	S	87	ENSP00000386821:N87S;ENSP00000289272:N87S	ENSP00000289272:N87S	N	+	2	0	PCDHA13	140242297	0.001000	0.12720	1.000000	0.80357	0.996000	0.88848	0.841000	0.27613	2.118000	0.64928	0.459000	0.35465	AAT	-	superfamily_Cadherin-like,HMMPfam_Cadherin_2,HMMSmart_SM00112		0.602	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	protein_coding	OTTHUMT00000335000.1	A	NM_018904		140242297	+1	no_errors	NM_018904	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	G			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chrUnknown:0T>G								None (None upstream) : None (None downstream)																								0.0																																																0			X																																								148576843	SO:0001628	intergenic_variant	4110																															Unknown.37:g.0T>G			148576843		Missense_Mutation	SNP	HMMPfam_MAGE	p.Q139P		37	c.416		X																																																																																			-	NULL	0	0					MAGEA11			T			148576843	-1	no_errors	NM_005366	genbank	human	reviewed	54_36p	missense	SNP	0.001	G
CHRNB2	1141	genome.wustl.edu	37	1	154541961	154541961	+	Missense_Mutation	SNP	G	G	A	rs199919525		TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr1:154541961G>A	ENST00000368476.3	+	2	352	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	30					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	GGATACAGAGGAGCGGCTGGT	0.597																																																0			1											46.0	43.0	44.0					1																	154541961		2203	4300	6503	152808585	SO:0001583	missense	1141			U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.88G>A	1.37:g.154541961G>A	ENSP00000357461:p.Glu30Lys		152808585	Q9UEH9	Missense_Mutation	SNP	superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neurotransmitter-gated ion-channel transmembrane pore,HMMPfam_Neur_chan_memb	p.E30K	ENST00000368476.3	37	c.88	CCDS1070.1	1	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096243	0.56075	.	.	ENSG00000160716	ENST00000368476	T	0.77229	-1.08	4.54	4.54	0.55810	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.70316	0.3210	L	0.45137	1.4	0.58432	D	0.999998	D	0.59767	0.986	P	0.59012	0.85	T	0.70920	-0.4741	10	0.02654	T	1	.	17.116	0.86689	0.0:0.0:1.0:0.0	.	30	P17787	ACHB2_HUMAN	K	30	ENSP00000357461:E30K	ENSP00000357461:E30K	E	+	1	0	CHRNB2	152808585	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.483000	0.73617	2.356000	0.79943	0.561000	0.74099	GAG	-	superfamily_Nicotinic receptor ligand binding domain-like,HMMPfam_Neur_chan_LBD		0.597	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB2	protein_coding	OTTHUMT00000090697.1	G	NM_000748		152808585	+1	no_errors	NM_000748	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
HCN3	57657	genome.wustl.edu	37	1	155254398	155254398	+	Silent	SNP	C	C	T			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr1:155254398C>T	ENST00000368358.3	+	4	947	c.939C>T	c.(937-939)ggC>ggT	p.G313G	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	313					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGTGCATTGGCTATGGGCAGC	0.587																																																0			1											91.0	70.0	78.0					1																	155254398		2203	4300	6503	153521022	SO:0001819	synonymous_variant	57657			AB040968	CCDS1108.1	1q21.2	2011-07-05			ENSG00000143630	ENSG00000143630		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	19183	protein-coding gene	gene with protein product		609973				16382102	Standard	NM_020897		Approved	KIAA1535	uc001fjz.2	Q9P1Z3	OTTHUMG00000035872	ENST00000368358.3:c.939C>T	1.37:g.155254398C>T			153521022	D3DV90|Q4VX12|Q8N6W6|Q9BWQ2	Silent	SNP	PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,HMMPfam_Ion_trans_N,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding	p.G313	ENST00000368358.3	37	c.939	CCDS1108.1	1																																																																																			-	superfamily_SSF81324,HMMPfam_Ion_trans		0.587	HCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN3	protein_coding	OTTHUMT00000087388.1	C	NM_020897		153521022	+1	no_errors	NM_020897	genbank	human	validated	54_36p	silent	SNP	1.000	T
C3orf79	152118	genome.wustl.edu	37	3	153202469	153202469	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr3:153202469C>A	ENST00000446603.2	+	1	186	c.124C>A	c.(124-126)Ctt>Att	p.L42I	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	42								p.L42I(1)		endometrium(1)|large_intestine(3)	4						TCAGTGTTTGCTTTACAAGGT	0.418																																																1	Substitution - Missense(1)	large_intestine(1)	3											278.0	263.0	268.0					3																	153202469		1905	4130	6035	154685159	SO:0001583	missense	152118			AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.124C>A	3.37:g.153202469C>A	ENSP00000389475:p.Leu42Ile		154685159		Missense_Mutation	SNP	NULL	p.L42I	ENST00000446603.2	37	c.124	CCDS46937.1	3	.	.	.	.	.	.	.	.	.	.	C	0.644	-0.812090	0.02798	.	.	ENSG00000237787	ENST00000446603	.	.	.	3.66	1.87	0.25490	.	.	.	.	.	T	0.33556	0.0867	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.71870	0.975	T	0.11251	-1.0595	8	0.87932	D	0	.	5.6237	0.17470	0.0:0.7537:0.0:0.2463	.	42	P0CE67	CC079_HUMAN	I	42	.	ENSP00000389475:L42I	L	+	1	0	C3orf79	154685159	0.020000	0.18652	0.068000	0.19968	0.343000	0.28985	0.574000	0.23714	0.535000	0.28714	-0.136000	0.14681	CTT	-	NULL		0.418	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC152118	protein_coding	OTTHUMT00000356570.1	C	NM_001101337		154685159	+1	no_errors	NM_001101337	genbank	human	inferred	54_36p	missense	SNP	0.117	A
TLL1	7092	genome.wustl.edu	37	4	166924563	166924563	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr4:166924563G>C	ENST00000061240.2	+	6	1300	c.653G>C	c.(652-654)cGg>cCg	p.R218P	TLL1_ENST00000513213.1_Missense_Mutation_p.R218P|TLL1_ENST00000507499.1_Missense_Mutation_p.R218P	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	218	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TATGTAGGTCGGCGAGGAAAT	0.428																																																0			4											128.0	116.0	120.0					4																	166924563		2203	4300	6503	167144013	SO:0001583	missense	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.653G>C	4.37:g.166924563G>C	ENSP00000061240:p.Arg218Pro		167144013	B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMPfam_EGF_CA,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMPfam_EGF"	p.R218P	ENST00000061240.2	37	c.653	CCDS3811.1	4	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157009	0.78114	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.66995	-0.24;-0.24;-0.24	5.19	5.19	0.71726	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	U	0.000000	D	0.88644	0.6492	H	0.98612	4.28	0.80722	D	1	D;D	0.76494	0.999;0.991	D;P	0.63283	0.913;0.784	D	0.93112	0.6517	10	0.87932	D	0	.	19.0827	0.93188	0.0:0.0:1.0:0.0	.	218;218	E9PD25;O43897	.;TLL1_HUMAN	P	218	ENSP00000061240:R218P;ENSP00000426082:R218P;ENSP00000422937:R218P	ENSP00000061240:R218P	R	+	2	0	TLL1	167144013	1.000000	0.71417	0.998000	0.56505	0.406000	0.30931	6.720000	0.74723	2.576000	0.86940	0.557000	0.71058	CGG	-	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMSmart_SM00235,HMMPfam_Astacin"		0.428	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	protein_coding	OTTHUMT00000363821.1	G			167144013	+1	no_errors	NM_012464	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
C1orf186	440712	genome.wustl.edu	37	1	206243218	206243218	+	Missense_Mutation	SNP	G	G	A	rs531574406		TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr1:206243218G>A	ENST00000331555.5	-	3	682	c.44C>T	c.(43-45)gCg>gTg	p.A15V		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	15						integral component of membrane (GO:0016021)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GGACACCACCGCGATCACTAA	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		21295	0.001		0.0	False		,,,				2504	0.0															0			1											123.0	109.0	113.0					1																	206243218		2203	4300	6503	204409841	SO:0001583	missense	440712			AK122631	CCDS73014.1	1q32.1	2014-05-06			ENSG00000196533	ENSG00000263961			25341	protein-coding gene	gene with protein product							Standard	XM_005272738		Approved	FLJ16052	uc001hdt.2	Q6ZWK4	OTTHUMG00000184376	ENST00000331555.5:c.44C>T	1.37:g.206243218G>A	ENSP00000356093:p.Ala15Val		204409841		Missense_Mutation	SNP	NULL	p.A15V	ENST00000331555.5	37	c.44	CCDS30995.1	1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099969	0.56183	.	.	ENSG00000196533	ENST00000331555	.	.	.	3.06	3.06	0.35304	.	0.000000	0.38272	N	0.001753	T	0.49287	0.1548	L	0.34521	1.04	0.09310	N	1	D	0.89917	1.0	D	0.85130	0.997	T	0.23261	-1.0193	9	0.87932	D	0	-9.316	9.8622	0.41120	0.0:0.0:1.0:0.0	.	15	Q6ZWK4	CA186_HUMAN	V	15	.	ENSP00000356093:A15V	A	-	2	0	C1orf186	204409841	0.127000	0.22367	0.033000	0.17914	0.028000	0.11728	3.138000	0.50570	2.028000	0.59812	0.561000	0.74099	GCG	-	NULL		0.527	C1orf186-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf186	protein_coding	OTTHUMT00000088002.1	G	NM_001007544		204409841	-1	no_errors	NM_001007544	genbank	human	predicted	54_36p	missense	SNP	0.006	A
Unknown	0	genome.wustl.edu	37	X	642359	642362	+	IGR	DEL	GAAA	GAAA	-			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	GAAA	GAAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chrX:642359_642362delGAAA								SHOX (22213 upstream) : RP11-309M23.1 (308593 downstream)																							gagagaaagggaaagaaagagaga	0.456														65	0.0129792	0.0166	0.0115	5008	,	,		29998	0.0		0.0318	False		,,,				2504	0.0031															0			X																																								562362	SO:0001628	intergenic_variant	0																															X.37:g.642363_642366delGAAA			562359		Frame_Shift_Del	DEL	NULL	p.L197fs		37	c.593_590		X																																																																																			(deletion:cds_exon[562268,562433])	NULL	0	0.456					LOC100134324			GAAA			562362	-1	no_start_codon:pseudogene:no_stop_codon	XM_001716092	genbank	human	model	54_36p	frame_shift_del	DEL	0.000:0.000:0.000:0.000	-
Unknown	0	genome.wustl.edu	37	X	642404	642405	+	IGR	INS	-	-	AGAA			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chrX:642404_642405insAGAA								SHOX (22258 upstream) : RP11-309M23.1 (308550 downstream)																							agggagagaagagacagagaga	0.436														157	0.0313498	0.0802	0.0159	5008	,	,		19068	0.0089		0.0258	False		,,,				2504	0.0051															0			X																																								562405	SO:0001628	intergenic_variant	0																															X.37:g.642404_642405insAGAA			562404		Frame_Shift_Ins	INS	NULL	p.S183fs		37	c.548_547		X																																																																																			-	NULL	0	0.436					LOC100134324			-			562405	-1	no_start_codon:pseudogene:no_stop_codon	XM_001716092	genbank	human	model	54_36p	frame_shift_ins	INS	0.000:0.000	AGAA
FAM86B3P	286042	genome.wustl.edu	37	8	8090318	8090319	+	IGR	DEL	TG	TG	-			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	TG	TG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr8:8090318_8090319delTG								FAM85B (6182 upstream) : ALG1L13P (4876 downstream)																							TGCCGTAGACTGTGAGGCATCC	0.53																																																0			8																																								8127729	SO:0001628	intergenic_variant	0																															8.37:g.8090320_8090321delTG			8127728		Frame_Shift_Del	DEL	HMMPfam_Methyltransf_16,superfamily_SSF53335	p.V55fs		37	c.162_163		8																																																																																			(deletion:cds_exon[8127726,8127806])	NULL	0	0.530					ENSG00000164845			TG			8127729	+1	no_errors	ENST00000338711	ensembl	human	known	54_36p	frame_shift_del	DEL	0.940:0.941	-
MYO7A	4647	genome.wustl.edu	37	11	76895771	76895792	+	Intron	DEL	GGAGGCGGGGACACCAGGGCCT	GGAGGCGGGGACACCAGGGCCT	-	rs111906251|rs143953991|rs78509218|rs111033223|rs369969967|rs12291062	byFrequency	TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	GGAGGCGGGGACACCAGGGCCT	GGAGGCGGGGACACCAGGGCCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr11:76895771_76895792delGGAGGCGGGGACACCAGGGCCT	ENST00000409709.3	+	27	3775				MYO7A_ENST00000409893.1_Stop_Codon_Del|MYO7A_ENST00000409619.2_Intron|MYO7A_ENST00000458637.2_Intron	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA						actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GTCAGTGCCGGGAGGCGGGGACACCAGGGCCTGAAAGTCTTT	0.599														2033	0.40595	0.466	0.4712	5008	,	,		20094	0.3194		0.4901	False		,,,				2504	0.2812															0			11							,,	1379,2453		340,699,877					,,	-8.4	0.0		dbSNP_126	18	3099,4701		776,1547,1577	no	intron,frameshift,intron	MYO7A	NM_001127180.1,NM_001127179.2,NM_000260.3	,,	1116,2246,2454	A1A1,A1R,RR		39.7308,35.9864,38.4972	,,	,,		4478,7154				76573440	SO:0001627	intron_variant	4647			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3503+11GGAGGCGGGGACACCAGGGCCT>-	11.37:g.76895771_76895792delGGAGGCGGGGACACCAGGGCCT			76573419	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Frame_Shift_Del	DEL	superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ	p.G1172fs	ENST00000409709.3	37	c.3514_3535	CCDS53683.1	11																																																																																			(deletion:cds_exon[76573281,76573442])	NULL		0.599	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	protein_coding	OTTHUMT00000328133.1	GGAGGCGGGGACACCAGGGCCT	NM_000260		76573440	+1	no_errors	ENST00000409893	ensembl	human	known	54_36p	frame_shift_del	DEL	0.000:0.000:0.000:0.002:0.000:0.000:0.001:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.000:0.003:0.009:0.007:0.030:0.029:0.019	-
SCRIB	23513	genome.wustl.edu	37	8	144891065	144891066	+	Frame_Shift_Ins	INS	-	-	A			TCGA-29-1701-01A-01W-0633-09	TCGA-29-1701-10A-01W-0633-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	674bb2d4-609a-487b-adc8-30d3584ced80	24e7f03f-2fdc-45d4-bf6e-fbf102e83fc7	g.chr8:144891065_144891066insA	ENST00000320476.3	-	15	1834_1835	c.1828_1829insT	c.(1828-1830)tacfs	p.Y610fs	SCRIB_ENST00000377533.3_Frame_Shift_Ins_p.Y529fs|SCRIB_ENST00000356994.2_Frame_Shift_Ins_p.Y610fs	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	610	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTGCTTTTTGTAGTGAGGTGTG	0.673																																					Pancreas(51;966 1133 10533 14576 29674)											0			8																																								144963054	SO:0001589	frameshift_variant	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1829dupT	8.37:g.144891066_144891066dupA	ENSP00000322938:p.Tyr610fs		144963053	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Frame_Shift_Ins	INS	superfamily_RNI-like,HMMSmart_SM00364,HMMPfam_LRR_1,HMMSmart_SM00369,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228	p.Y610fs	ENST00000320476.3	37	c.1829_1828	CCDS6411.1	8																																																																																			-	NULL		0.673	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	protein_coding	OTTHUMT00000382215.1	-	NM_015356		144963054	-1	no_errors	NM_182706	genbank	human	validated	54_36p	frame_shift_ins	INS	1.000:1.000	A
