#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
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chrUnknown:0C>T								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								14191	SO:0001628	intergenic_variant	4541																															Unknown.37:g.0C>T			14191		Missense_Mutation	SNP	HMMPfam_Oxidored_q3	p.V162I		37	c.484		MT																																																																																			-	HMMPfam_Oxidored_q3	0	0					MT-ND6			C			14191	-1	no_stop_codon	ENST00000361681	ensembl	human	known	54_36p	missense	SNP	NULL	T
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			NT_113901																																								48962	SO:0001628	intergenic_variant	0																															Unknown.37:g.0T>C			48962		Silent	SNP	NULL	p.E52		37	c.156		NT_113901																																																																																			-	NULL	0	0					ENSG00000215781			T			48962	-1	no_errors	ENST00000400890	ensembl	human	known	54_36p	silent	SNP	NULL	C
CSNK2A1	1457	genome.wustl.edu	37	20	485797	485797	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr20:485797T>G	ENST00000217244.3	-	4	553	c.178A>C	c.(178-180)Aca>Cca	p.T60P	CSNK2A1_ENST00000349736.5_Missense_Mutation_p.T60P|CSNK2A1_ENST00000400217.2_5'UTR|CSNK2A1_ENST00000400227.3_Missense_Mutation_p.T60P	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|chaperone-mediated protein folding (GO:0061077)|mitotic cell cycle (GO:0000278)|mitotic spindle checkpoint (GO:0071174)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of Wnt signaling pathway (GO:0030177)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|plasma membrane (GO:0005886)|Sin3 complex (GO:0016580)	ATP binding (GO:0005524)|Hsp90 protein binding (GO:0051879)|protein N-terminus binding (GO:0047485)|protein phosphatase regulator activity (GO:0019888)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TCATTATTTGTGATGTTGATG	0.323																																																0			20											80.0	71.0	74.0					20																	485797		2203	4299	6502	433797	SO:0001583	missense	1457			M55265	CCDS13003.1, CCDS13004.1	20p13	2013-01-17			ENSG00000101266	ENSG00000101266			2457	protein-coding gene	gene with protein product		115440				2174700, 1766873	Standard	NM_177559		Approved		uc002wdx.1	P68400	OTTHUMG00000031636	ENST00000217244.3:c.178A>C	20.37:g.485797T>G	ENSP00000217244:p.Thr60Pro		433797	B4DYS6|D3DVV8|P19138|P20426|Q14013|Q5U065	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.T60P	ENST00000217244.3	37	c.178	CCDS13003.1	20	.	.	.	.	.	.	.	.	.	.	T	15.17	2.754595	0.49362	.	.	ENSG00000101266	ENST00000400227;ENST00000349736;ENST00000217244;ENST00000381973	T;T;T	0.65732	-0.17;-0.17;-0.17	4.45	4.45	0.53987	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.048362	0.85682	D	0.000000	T	0.52837	0.1759	L	0.39692	1.235	0.80722	D	1	B	0.12013	0.005	B	0.17722	0.019	T	0.50642	-0.8804	10	0.35671	T	0.21	-3.682	13.3394	0.60537	0.0:0.0:0.0:1.0	.	60	P68400	CSK21_HUMAN	P	60	ENSP00000383086:T60P;ENSP00000339247:T60P;ENSP00000217244:T60P	ENSP00000217244:T60P	T	-	1	0	CSNK2A1	433797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.825000	0.86693	2.005000	0.58758	0.459000	0.35465	ACA	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP		0.323	CSNK2A1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CSNK2A1	protein_coding	OTTHUMT00000077466.1	T	NM_001895		433797	-1	no_errors	NM_001895	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
SLC4A11	83959	genome.wustl.edu	37	20	3218563	3218563	+	5'Flank	SNP	T	T	C	rs79057061	byFrequency	TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr20:3218563T>C	ENST00000380056.3	-	0	0				SLC4A11_ENST00000539553.2_Intron|SLC4A11_ENST00000380059.3_Missense_Mutation_p.R50G	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11						bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CAGGTTTTCCTGAGAAAACCC	0.642													T|||	321	0.0640974	0.1195	0.0648	5008	,	,		16349	0.001		0.1044	False		,,,				2504	0.0123				NSCLC(190;922 2139 10266 10292 38692)											0			20																																								3166563	SO:0001631	upstream_gene_variant	83959			AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740		20.37:g.3218563T>C	Exception_encountered		3166563	B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	superfamily_Phoshotransferase/anion transport protein,HMMPfam_HCO3_cotransp	p.R50G	ENST00000380056.3	37	c.148	CCDS13052.1	20	139	0.06364468864468864	47	0.09552845528455285	25	0.06906077348066299	0	0.0	67	0.08839050131926121	T	6.325	0.428152	0.11987	.	.	ENSG00000088836	ENST00000380059	D	0.81908	-1.55	3.26	0.569	0.17340	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.80722	P	0.0	B	0.14012	0.009	B	0.10450	0.005	T	0.14282	-1.0478	8	0.22706	T	0.39	.	3.4068	0.07344	0.2334:0.0:0.2404:0.5262	.	50	B4DKC8	.	G	50	ENSP00000369399:R50G	ENSP00000369399:R50G	R	-	1	2	SLC4A11	3166563	0.001000	0.12720	0.000000	0.03702	0.028000	0.11728	0.121000	0.15667	0.414000	0.25790	0.402000	0.26972	AGG	-	NULL		0.642	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	SLC4A11	protein_coding	OTTHUMT00000077728.1	T			3166563	-1	no_errors	ENST00000380059	ensembl	human	known	54_36p	missense	SNP	0.000	C
TP53	7157	genome.wustl.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656|rs397516437		TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr17:7577547C>T	ENST00000269305.4	-	7	923	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000420246.2_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000574684.1_5'Flank	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CCGGTTCATGCCGCCCATGCA	0.582		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"""	219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(1)	17	GRCh37	CM010464|CM900209	TP53	M	rs121912656						151.0	113.0	126.0					17																	7577547		2203	4300	6503	7518272	SO:0001583	missense	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.734G>A	17.37:g.7577547C>T	ENSP00000269305:p.Gly245Asp		7518272	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	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.G245D	ENST00000269305.4	37	c.734	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838149	0.91117	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	A	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0;1.0	D	0.96045	0.9027	9	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245D;ENSP00000352610:G245D;ENSP00000269305:G245D;ENSP00000398846:G245D;ENSP00000391127:G245D;ENSP00000391478:G245D;ENSP00000425104:G113D;ENSP00000423862:G152D	ENSP00000269305:G245D	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC	-	HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7518272	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
ADCY2	108	genome.wustl.edu	37	5	7695868	7695868	+	Silent	SNP	C	C	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr5:7695868C>A	ENST00000338316.4	+	6	962	c.873C>A	c.(871-873)atC>atA	p.I291I	ADCY2_ENST00000537121.1_Silent_p.I111I	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	291					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CCCACAGCATCTTATACGCTG	0.398																																																0			5											87.0	77.0	80.0					5																	7695868		2203	4300	6503	7748868	SO:0001819	synonymous_variant	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.873C>A	5.37:g.7695868C>A			7748868	B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Silent	SNP	HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc,PatternScan_GUANYLATE_CYCLASE_1,HMMPfam_DUF1053	p.I291	ENST00000338316.4	37	c.873	CCDS3872.2	5																																																																																			-	HMMSmart_CYCc,superfamily_A/G_cyclase,HMMPfam_Guanylate_cyc		0.398	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	protein_coding	OTTHUMT00000206930.2	C	NM_020546		7748868	+1	no_errors	NM_020546	genbank	human	reviewed	54_36p	silent	SNP	0.988	A
Unknown	0	genome.wustl.edu	37	X	9380015	9380015	+	IGR	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chrX:9380015G>A								GS1-519E5.1 (136769 upstream) : TBL1X (51319 downstream)																							ggaacttcctgAATGCTATTG	0.478													G|||	6	0.0015894	0.0015	0.0	3775	,	,		74330	0.0		0.004	False		,,,				2504	0.0															0			X																																								9340015	SO:0001628	intergenic_variant	0																															X.37:g.9380015G>A			9340015		RNA	SNP	-	NULL		37	NULL		X																																																																																			-	-	0	0.478					LOC100132243			G			9340015	+1	pseudogene	XR_037396	genbank	human	model	54_36p	rna	SNP	1.000	A
TTLL3	26140	genome.wustl.edu	37	3	9876893	9876893	+	Nonsense_Mutation	SNP	C	C	A	rs183827868		TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr3:9876893C>A	ENST00000547186.1	+	13	2255	c.2039C>A	c.(2038-2040)tCa>tAa	p.S680*	TTLL3_ENST00000430793.1_3'UTR|TTLL3_ENST00000455274.1_Intron|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000397241.1_3'UTR|TTLL3_ENST00000426895.4_Nonsense_Mutation_p.S823*|TTLL3_ENST00000383827.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	680					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AAGGCAAATTCAAGGCCAGAC	0.592																																																0			3											67.0	73.0	71.0					3																	9876893		2002	4170	6172	9851893	SO:0001587	stop_gained	26140				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.2039C>A	3.37:g.9876893C>A	ENSP00000446659:p.Ser680*		9851893	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Nonsense_Mutation	SNP	HMMPfam_TTL,superfamily_Glutathione synthetase ATP-binding domain-like	p.S680*	ENST00000547186.1	37	c.2039		3	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765221	0.69878	.	.	ENSG00000214021	ENST00000426895;ENST00000547186	.	.	.	3.55	1.62	0.23740	.	7.009170	0.02063	U	0.050975	.	.	.	.	.	.	0.48087	D	0.999588	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	9.4467	0.38701	0.0:0.5718:0.4282:0.0	.	.	.	.	X	823;680	.	ENSP00000392549:S823X	S	+	2	0	TTLL3	9851893	0.633000	0.27181	0.691000	0.30163	0.599000	0.36880	0.207000	0.17395	0.439000	0.26476	0.561000	0.74099	TCA	-	NULL		0.592	TTLL3-203	KNOWN	basic	protein_coding	TTLL3	protein_coding		C	NM_001025930.2		9851893	+1	no_errors	NM_001025930	genbank	human	provisional	54_36p	nonsense	SNP	0.937	A
PRRT3	285368	genome.wustl.edu	37	3	9990552	9990552	+	Missense_Mutation	SNP	A	A	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr3:9990552A>G	ENST00000412055.1	-	3	1190	c.1061T>C	c.(1060-1062)gTg>gCg	p.V354A	PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.V354A	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	354	Pro-rich.					integral component of membrane (GO:0016021)				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						AGCTCCTCTCACCCGCTGGGG	0.597																																																0			3											60.0	66.0	64.0					3																	9990552		1929	4136	6065	9965552	SO:0001583	missense	285368			AK090993	CCDS43049.1	3p25.3	2011-10-10			ENSG00000163704	ENSG00000163704		"""Proline-rich transmembrane proteins"""	26591	protein-coding gene	gene with protein product							Standard	NM_207351		Approved	FLJ33674	uc003bul.2	Q5FWE3	OTTHUMG00000155285	ENST00000412055.1:c.1061T>C	3.37:g.9990552A>G	ENSP00000392511:p.Val354Ala		9965552	Q49AD0|Q6UXY6|Q8NBC9	Missense_Mutation	SNP	NULL	p.V354A	ENST00000412055.1	37	c.1061	CCDS43049.1	3	.	.	.	.	.	.	.	.	.	.	A	21.5	4.153761	0.78114	.	.	ENSG00000163704	ENST00000412055;ENST00000411976	T;T	0.29917	1.81;1.55	5.17	5.17	0.71159	.	0.118006	0.34133	N	0.004221	T	0.41811	0.1175	L	0.36672	1.1	0.31566	N	0.656907	D;D	0.71674	0.998;0.998	D;D	0.68765	0.96;0.934	T	0.46034	-0.9220	9	.	.	.	-24.4515	11.4013	0.49873	1.0:0.0:0.0:0.0	.	354;354	Q5FWE3-3;Q5FWE3	.;PRRT3_HUMAN	A	354	ENSP00000392511:V354A;ENSP00000404512:V354A	.	V	-	2	0	PRRT3	9965552	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.650000	0.61440	1.946000	0.56461	0.533000	0.62120	GTG	-	NULL		0.597	PRRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT3	protein_coding	OTTHUMT00000339322.1	A	NM_207351		9965552	-1	no_errors	NM_207351	genbank	human	validated	54_36p	missense	SNP	1.000	G
MYH8	4626	genome.wustl.edu	37	17	10322294	10322294	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr17:10322294G>T	ENST00000403437.2	-	4	358	c.264C>A	c.(262-264)gaC>gaA	p.D88E	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	88	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCAATTTTGTCATATTTCG	0.458									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0			17											173.0	154.0	160.0					17																	10322294		2203	4300	6503	10263019	SO:0001583	missense	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.264C>A	17.37:g.10322294G>T	ENSP00000384330:p.Asp88Glu		10263019	Q14910	Missense_Mutation	SNP	HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1	p.D88E	ENST00000403437.2	37	c.264	CCDS11153.1	17	.	.	.	.	.	.	.	.	.	.	G	12.69	2.013542	0.35511	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	T	0.71698	-0.59	3.33	3.33	0.38152	Myosin head, motor domain (1);	0.000000	0.43579	U	0.000547	T	0.55529	0.1926	L	0.45581	1.43	0.41226	D	0.986541	B	0.02656	0.0	B	0.06405	0.002	T	0.45220	-0.9276	10	0.07482	T	0.82	.	8.0243	0.30427	0.1994:0.0:0.8006:0.0	.	88	P13535	MYH8_HUMAN	E	88	ENSP00000384330:D88E	ENSP00000252173:D88E	D	-	3	2	MYH8	10263019	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	0.854000	0.27791	1.871000	0.54225	0.460000	0.39030	GAC	-	superfamily_SSF52540,HMMSmart_MYSc		0.458	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	protein_coding	OTTHUMT00000252724.2	G	NM_002472		10263019	-1	no_errors	NM_002472	genbank	human	validated	54_36p	missense	SNP	1.000	T
DNAH9	1770	genome.wustl.edu	37	17	11696830	11696830	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr17:11696830T>C	ENST00000262442.4	+	42	8140	c.8072T>C	c.(8071-8073)tTc>tCc	p.F2691S	DNAH9_ENST00000454412.2_Missense_Mutation_p.F2691S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2691					cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGCATTCTCTTCTCCTCAGTG	0.398																																																0			17											143.0	131.0	135.0					17																	11696830		2203	4300	6503	11637555	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.8072T>C	17.37:g.11696830T>C	ENSP00000262442:p.Phe2691Ser		11637555	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2	p.F2691S	ENST00000262442.4	37	c.8072	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	T	25.3	4.620398	0.87460	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.44482	0.92;0.92	5.76	5.76	0.90799	.	0.115864	0.64402	D	0.000014	T	0.60170	0.2248	L	0.55103	1.725	0.80722	D	1	D	0.62365	0.991	D	0.72625	0.978	T	0.59606	-0.7423	10	0.48119	T	0.1	.	16.0843	0.81031	0.0:0.0:0.0:1.0	.	2691	Q9NYC9	DYH9_HUMAN	S	2691;2691;1273	ENSP00000262442:F2691S;ENSP00000414874:F2691S	ENSP00000262442:F2691S	F	+	2	0	DNAH9	11637555	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.841000	0.86834	2.191000	0.70037	0.533000	0.62120	TTC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.398	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	T	NM_001372		11637555	+1	no_errors	NM_001372	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
DDX1	1653	genome.wustl.edu	37	2	15753380	15753380	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr2:15753380G>A	ENST00000381341.2	+	15	1378	c.989G>A	c.(988-990)cGg>cAg	p.R330Q	DDX1_ENST00000233084.3_Missense_Mutation_p.R330Q			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	330	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		GTTGCAGCCCGGGATCAGCTC	0.323																																																0			2											70.0	76.0	74.0					2																	15753380		2201	4300	6501	15670831	SO:0001583	missense	1653			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.989G>A	2.37:g.15753380G>A	ENSP00000370745:p.Arg330Gln		15670831	B4DME8|B4DPN6	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMPfam_SPRY,HMMSmart_SM00449,HMMSmart_SM00490,HMMPfam_Helicase_C	p.R330Q	ENST00000381341.2	37	c.989	CCDS1686.1	2	.	.	.	.	.	.	.	.	.	.	G	15.38	2.816795	0.50633	.	.	ENSG00000079785	ENST00000381341;ENST00000233084;ENST00000543614	T;T	0.16457	2.34;2.34	5.92	5.05	0.67936	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.048996	0.85682	D	0.000000	T	0.08670	0.0215	N	0.10809	0.05	0.43364	D	0.995444	P	0.35107	0.484	B	0.31390	0.129	T	0.35798	-0.9774	10	0.23891	T	0.37	-17.7898	11.0885	0.48102	0.1404:0.0:0.8596:0.0	.	330	Q92499	DDX1_HUMAN	Q	330;330;314	ENSP00000370745:R330Q;ENSP00000233084:R330Q	ENSP00000233084:R330Q	R	+	2	0	DDX1	15670831	1.000000	0.71417	0.983000	0.44433	0.852000	0.48524	6.238000	0.72350	1.521000	0.48983	-0.225000	0.12378	CGG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD		0.323	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX1	protein_coding	OTTHUMT00000207141.2	G	NM_004939		15670831	+1	no_errors	NM_004939	genbank	human	reviewed	54_36p	missense	SNP	0.998	A
MYO15A	51168	genome.wustl.edu	37	17	18023083	18023083	+	Silent	SNP	G	G	A	rs371387378	byFrequency	TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr17:18023083G>A	ENST00000205890.5	+	2	1307	c.969G>A	c.(967-969)tcG>tcA	p.S323S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	323					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGGGGTACTCGTCTCCTTACA	0.612													G|||	5	0.000998403	0.003	0.0	5008	,	,		16505	0.001		0.0	False		,,,				2504	0.0															0			17						G		6,3944		0,6,1969	61.0	68.0	65.0		969	-3.2	0.1	17		65	0,8280		0,0,4140	no	coding-synonymous	MYO15A	NM_016239.3		0,6,6109	AA,AG,GG		0.0,0.1519,0.0491		323/3531	18023083	6,12224	1975	4140	6115	17963808	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.969G>A	17.37:g.18023083G>A			17963808	B4DFC7	Silent	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,HMMSmart_SM00139,HMMPfam_MyTH4,superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M	p.S323	ENST00000205890.5	37	c.969	CCDS42271.1	17																																																																																			-	NULL		0.612	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	protein_coding	OTTHUMT00000132048.1	G	NM_016239		17963808	+1	no_errors	NM_016239	genbank	human	reviewed	54_36p	silent	SNP	0.000	A
CSRP2BP	57325	genome.wustl.edu	37	20	18131466	18131466	+	Splice_Site	SNP	T	T	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr20:18131466T>G	ENST00000435364.3	+	3	721	c.380T>G	c.(379-381)gTc>gGc	p.V127G	CSRP2BP_ENST00000377681.3_Splice_Site_p.V127G|CSRP2BP_ENST00000489634.2_5'UTR	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	127					chromatin organization (GO:0006325)|G2/M transition of mitotic cell cycle (GO:0000086)|histone H3 acetylation (GO:0043966)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|LIM domain binding (GO:0030274)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GTGTTTCAGGTCGTCATGTTG	0.413																																																0			20											257.0	239.0	245.0					20																	18131466		2203	4300	6503	18079466	SO:0001630	splice_region_variant	57325			AF252257	CCDS13133.1	20p11.23	2012-06-06			ENSG00000149474	ENSG00000149474			15904	protein-coding gene	gene with protein product	"""cysteine rich protein 2 binding protein"", ""ATAC component 2 homolog (Drosophila)"""					9286703, 10924333, 19103755	Standard	NR_028402		Approved	CRP2BP, dJ717M23.1, PRO1194, ATAC2, KAT14	uc021wbb.1	Q9H8E8	OTTHUMG00000031962	ENST00000435364.3:c.379-1T>G	20.37:g.18131466T>G			18079466	A2A2I5|Q96GW6|Q96IH3|Q9HBF0|Q9UIY5	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase,HMMPfam_Acetyltransf_1	p.V127G	ENST00000435364.3	37	c.380	CCDS13133.1	20	.	.	.	.	.	.	.	.	.	.	T	23.7	4.450055	0.84101	.	.	ENSG00000149474	ENST00000278816;ENST00000377681;ENST00000435364	T;T;T	0.22539	1.95;1.96;1.95	5.1	5.1	0.69264	.	0.062950	0.64402	D	0.000006	T	0.32071	0.0817	M	0.66297	2.02	0.80722	D	1	P	0.45348	0.856	P	0.46144	0.505	T	0.14200	-1.0481	10	0.87932	D	0	-25.7281	15.1792	0.72941	0.0:0.0:0.0:1.0	.	127	Q9H8E8	CSR2B_HUMAN	G	127	ENSP00000278816:V127G;ENSP00000366909:V127G;ENSP00000392318:V127G	ENSP00000278816:V127G	V	+	2	0	CSRP2BP	18079466	1.000000	0.71417	0.995000	0.50966	0.968000	0.65278	7.363000	0.79516	2.044000	0.60594	0.455000	0.32223	GTC	-	NULL		0.413	CSRP2BP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSRP2BP	protein_coding	OTTHUMT00000078152.5	T	NM_020536	Missense_Mutation	18079466	+1	no_errors	NM_020536	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
LDHA	3939	genome.wustl.edu	37	11	18425354	18425354	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr11:18425354G>C	ENST00000422447.3	+	6	979	c.706G>C	c.(706-708)Gag>Cag	p.E236Q	LDHA_ENST00000396222.2_Intron|AC084117.3_ENST00000496975.2_RNA|LDHA_ENST00000540430.1_Missense_Mutation_p.E265Q|LDHA_ENST00000227157.4_Missense_Mutation_p.E236Q|LDHA_ENST00000430553.2_Missense_Mutation_p.E178Q|LDHA_ENST00000542179.1_Missense_Mutation_p.E236Q|LDHA_ENST00000379412.5_Missense_Mutation_p.E236Q	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	236					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						GCAGGTGGTTGAGAGGTAATA	0.338																																																0			11											91.0	89.0	90.0					11																	18425354		2199	4293	6492	18381930	SO:0001583	missense	3939			X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.706G>C	11.37:g.18425354G>C	ENSP00000395337:p.Glu236Gln		18381930	B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	superfamily_NAD(P)-binding Rossmann-fold domains,HMMPfam_Ldh_1_N,superfamily_LDH C-terminal domain-like,HMMPfam_Ldh_1_C,PatternScan_L_LDH	p.E236Q	ENST00000422447.3	37	c.706	CCDS7839.1	11	.	.	.	.	.	.	.	.	.	.	G	15.52	2.859257	0.51376	.	.	ENSG00000134333	ENST00000422447;ENST00000430553;ENST00000541620;ENST00000445376;ENST00000227157;ENST00000540430;ENST00000379412;ENST00000542179	T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.34	5.34	0.76211	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.177301	0.48286	D	0.000189	T	0.50531	0.1621	N	0.20401	0.57	0.39968	D	0.974751	B;B;B;B;B	0.10296	0.0;0.0;0.003;0.001;0.0	B;B;B;B;B	0.14578	0.002;0.003;0.011;0.002;0.001	T	0.42396	-0.9454	10	0.30854	T	0.27	-2.4514	19.4115	0.94675	0.0:0.0:1.0:0.0	.	265;178;209;236;236	B7Z5E3;B4DKQ2;B4DJI1;F8W819;P00338	.;.;.;.;LDHA_HUMAN	Q	236;178;208;209;236;265;236;236	ENSP00000395337:E236Q;ENSP00000406172:E178Q;ENSP00000227157:E236Q;ENSP00000445175:E265Q;ENSP00000368722:E236Q;ENSP00000445331:E236Q	ENSP00000227157:E236Q	E	+	1	0	LDHA	18381930	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.811000	0.86092	2.651000	0.90000	0.585000	0.79938	GAG	-	superfamily_LDH C-terminal domain-like,HMMPfam_Ldh_1_C		0.338	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDHA	protein_coding	OTTHUMT00000258172.2	G	NM_005566		18381930	+1	no_errors	NM_005566	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
ZNF43	7594	genome.wustl.edu	37	19	21991220	21991220	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr19:21991220C>G	ENST00000354959.4	-	4	1788	c.1619G>C	c.(1618-1620)tGt>tCt	p.C540S	ZNF43_ENST00000595461.1_Missense_Mutation_p.C534S|ZNF43_ENST00000598381.1_Missense_Mutation_p.C534S|ZNF43_ENST00000594012.1_Missense_Mutation_p.C534S	NM_003423.3	NP_003414.2	P17038	ZNF43_HUMAN	zinc finger protein 43	540					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACATTCTTCACATTTGTAGGG	0.378																																																0			19											54.0	57.0	56.0					19																	21991220		2178	4280	6458	21783060	SO:0001583	missense	7594			X59244	CCDS12413.2, CCDS59367.1, CCDS74321.1	19p13.1-p12	2013-01-08	2006-05-11		ENSG00000198521	ENSG00000198521		"""Zinc fingers, C2H2-type"", ""-"""	13109	protein-coding gene	gene with protein product		603972	"""zinc finger protein 39-like 1 (KOX 27)"", ""zinc finger protein 43 (HTF6)"""	ZNF39L1		1711675	Standard	NM_001256649		Approved	HTF6, KOX27	uc031rka.1	P17038	OTTHUMG00000128543	ENST00000354959.4:c.1619G>C	19.37:g.21991220C>G	ENSP00000347045:p.Cys540Ser		21783060	A8K5N8|P28160|Q53XQ2|Q5H9T3|Q96DG1	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.C540S	ENST00000354959.4	37	c.1619	CCDS12413.2	19	.	.	.	.	.	.	.	.	.	.	C	8.851	0.944696	0.18356	.	.	ENSG00000198521	ENST00000397148;ENST00000354959	D	0.85171	-1.95	1.76	1.76	0.24704	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93006	0.7774	M	0.93062	3.375	0.32288	N	0.566643	D	0.89917	1.0	D	0.97110	1.0	D	0.92106	0.5692	9	0.87932	D	0	.	10.4707	0.44635	0.0:1.0:0.0:0.0	.	540	P17038	ZNF43_HUMAN	S	539;540	ENSP00000347045:C540S	ENSP00000347045:C540S	C	-	2	0	ZNF43	21783060	0.959000	0.32827	0.495000	0.27527	0.897000	0.52465	2.733000	0.47360	0.976000	0.38417	0.305000	0.20034	TGT	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.378	ZNF43-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF43	protein_coding	OTTHUMT00000250380.2	C	NM_003423		21783060	-1	no_errors	NM_003423	genbank	human	validated	54_36p	missense	SNP	0.678	G
PYGB	5834	genome.wustl.edu	37	20	25261685	25261685	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr20:25261685T>C	ENST00000216962.4	+	11	1450	c.1340T>C	c.(1339-1341)gTg>gCg	p.V447A		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	447					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						CACCTGTGTGTGATTGGGTCC	0.632																																																0			20											295.0	242.0	260.0					20																	25261685		2203	4300	6503	25209685	SO:0001583	missense	5834				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.1340T>C	20.37:g.25261685T>C	ENSP00000216962:p.Val447Ala		25209685	Q96AK1|Q9NPX8	Missense_Mutation	SNP	superfamily_SSF53756,HMMPfam_Phosphorylase,PatternScan_PHOSPHORYLASE	p.V447A	ENST00000216962.4	37	c.1340	CCDS13171.1	20	.	.	.	.	.	.	.	.	.	.	T	19.17	3.776416	0.70107	.	.	ENSG00000100994	ENST00000216962	D	0.93906	-3.31	4.13	4.13	0.48395	.	0.061034	0.64402	D	0.000003	D	0.94089	0.8105	M	0.68952	2.095	0.58432	D	0.999996	P	0.35192	0.489	P	0.46389	0.515	D	0.94521	0.7727	10	0.66056	D	0.02	-40.7297	13.2648	0.60127	0.0:0.0:0.0:1.0	.	447	P11216	PYGB_HUMAN	A	447	ENSP00000216962:V447A	ENSP00000216962:V447A	V	+	2	0	PYGB	25209685	1.000000	0.71417	0.977000	0.42913	0.923000	0.55619	7.731000	0.84895	1.856000	0.53863	0.379000	0.24179	GTG	-	superfamily_SSF53756,HMMPfam_Phosphorylase		0.632	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	protein_coding	OTTHUMT00000078415.2	T	NM_002862		25209685	+1	no_errors	NM_002862	genbank	human	reviewed	54_36p	missense	SNP	0.991	C
LRRC16A	55604	genome.wustl.edu	37	6	25600652	25600652	+	Missense_Mutation	SNP	G	G	T	rs548340500		TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr6:25600652G>T	ENST00000329474.6	+	33	3598	c.3230G>T	c.(3229-3231)cGg>cTg	p.R1077L		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1077	Inhibits capping activity of CAPZA2. {ECO:0000250}.				actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						ATCAAATCCCGGTCCAAATCC	0.483																																																0			6											68.0	67.0	68.0					6																	25600652		1862	4094	5956	25708631	SO:0001583	missense	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3230G>T	6.37:g.25600652G>T	ENSP00000331983:p.Arg1077Leu		25708631	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	superfamily_SSF52047	p.R1077L	ENST00000329474.6	37	c.3230	CCDS54973.1	6	.	.	.	.	.	.	.	.	.	.	G	19.95	3.921604	0.73213	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.41065	1.01	5.2	5.2	0.72013	.	0.125087	0.53938	D	0.000047	T	0.36331	0.0963	M	0.67953	2.075	0.80722	D	1	P;D;D	0.59357	0.955;0.974;0.985	B;B;P	0.48425	0.373;0.373;0.577	T	0.27088	-1.0084	10	0.10902	T	0.67	-14.5296	18.7442	0.91787	0.0:0.0:1.0:0.0	.	1077;1077;1077	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	L	1077	ENSP00000331983:R1077L	ENSP00000331983:R1077L	R	+	2	0	LRRC16A	25708631	0.995000	0.38212	0.996000	0.52242	0.877000	0.50540	4.372000	0.59530	2.403000	0.81681	0.455000	0.32223	CGG	-	NULL		0.483	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LRRC16A	protein_coding	OTTHUMT00000040045.2	G	NM_017640		25708631	+1	no_errors	NM_017640	genbank	human	validated	54_36p	missense	SNP	0.898	T
ZNF184	7738	genome.wustl.edu	37	6	27419769	27419769	+	Silent	SNP	A	A	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr6:27419769A>C	ENST00000211936.6	-	6	1853	c.1569T>G	c.(1567-1569)acT>acG	p.T523T	ZNF184_ENST00000377419.1_Silent_p.T523T	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	523					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CTTGAGTATGAGTTTTCTGAT	0.383																																																0			6											69.0	71.0	70.0					6																	27419769		2203	4299	6502	27527748	SO:0001819	synonymous_variant	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1569T>G	6.37:g.27419769A>C			27527748	B2R715|O60792|Q8TBA9	Silent	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00355	p.T523	ENST00000211936.6	37	c.1569	CCDS4624.1	6																																																																																			-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.383	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF184	protein_coding	OTTHUMT00000040146.1	A	NM_007149		27527748	-1	no_errors	NM_007149	genbank	human	validated	54_36p	silent	SNP	0.009	C
HIST1H2BM	8342	genome.wustl.edu	37	6	27783192	27783192	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr6:27783192G>T	ENST00000359465.4	+	1	371	c.371G>T	c.(370-372)aGc>aTc	p.S124I	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	124					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						AAGTATACCAGCTCCAAGTGA	0.592																																																0			6											41.0	43.0	42.0					6																	27783192		2203	4300	6503	27891171	SO:0001583	missense	8342			Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"""Histones / Replication-dependent"""	4750	protein-coding gene	gene with protein product		602802	"""H2B histone family, member E"", ""histone 1, H2bm"""	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.371G>T	6.37:g.27783192G>T	ENSP00000352442:p.Ser124Ile		27891171	Q6NWQ3	Missense_Mutation	SNP	superfamily_Histone-fold,HMMSmart_H2B,HMMPfam_Histone,PatternScan_HISTONE_H2B	p.S124I	ENST00000359465.4	37	c.371	CCDS4629.1	6	.	.	.	.	.	.	.	.	.	.	.	15.68	2.904225	0.52333	.	.	ENSG00000196374	ENST00000359465	T	0.25414	1.8	4.1	4.1	0.47936	Histone-fold (2);	0.000000	0.64402	U	0.000001	T	0.60637	0.2284	H	0.97240	3.965	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.76865	-0.2801	10	0.87932	D	0	.	15.8322	0.78764	0.0:0.0:1.0:0.0	.	124	Q99879	H2B1M_HUMAN	I	124	ENSP00000352442:S124I	ENSP00000352442:S124I	S	+	2	0	HIST1H2BM	27891171	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	9.129000	0.94430	2.273000	0.75805	0.563000	0.77884	AGC	-	superfamily_Histone-fold,HMMSmart_H2B		0.592	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BM	protein_coding	OTTHUMT00000040157.1	G	NM_003521		27891171	+1	no_errors	NM_003521	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
KRTAP13-1	140258	genome.wustl.edu	37	21	31768605	31768605	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr21:31768605G>C	ENST00000355459.2	+	1	214	c.201G>C	c.(199-201)caG>caC	p.Q67H		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	67	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCAGCTGCCAGACATCCTATG	0.602																																																0			21											58.0	59.0	59.0					21																	31768605		2203	4300	6503	30690476	SO:0001583	missense	140258			AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.201G>C	21.37:g.31768605G>C	ENSP00000347635:p.Gln67His		30690476	Q14D20|Q3LI79	Missense_Mutation	SNP	HMMPfam_PMG	p.Q67H	ENST00000355459.2	37	c.201	CCDS13590.2	21	.	.	.	.	.	.	.	.	.	.	G	10.46	1.357465	0.24598	.	.	ENSG00000198390	ENST00000355459	T	0.05447	3.44	4.51	4.51	0.55191	.	0.367585	0.19453	N	0.113885	T	0.13157	0.0319	M	0.83312	2.635	0.09310	N	1	B	0.19583	0.037	B	0.24848	0.056	T	0.03514	-1.1029	10	0.54805	T	0.06	.	13.0314	0.58845	0.0:0.0:1.0:0.0	.	67	Q8IUC0	KR131_HUMAN	H	67	ENSP00000347635:Q67H	ENSP00000347635:Q67H	Q	+	3	2	KRTAP13-1	30690476	0.103000	0.21917	0.013000	0.15412	0.029000	0.11900	1.181000	0.32017	2.782000	0.95742	0.557000	0.71058	CAG	-	HMMPfam_PMG		0.602	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-1	protein_coding	OTTHUMT00000128252.3	G			30690476	+1	no_errors	NM_181599	genbank	human	validated	54_36p	missense	SNP	0.004	C
SYN3	8224	genome.wustl.edu	37	22	32909769	32909769	+	Silent	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr22:32909769G>A	ENST00000358763.2	-	14	1895	c.1653C>T	c.(1651-1653)acC>acT	p.T551T	SYN3_ENST00000332840.5_Silent_p.T551T|SYN3_ENST00000467095.1_5'UTR	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	551	E.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CACGCTGGGAGGTGTCGGATG	0.532																																																0			22											146.0	114.0	125.0					22																	32909769		2203	4300	6503	31239769	SO:0001819	synonymous_variant	8224			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.1653C>T	22.37:g.32909769G>A			31239769	B1B1F9	Silent	SNP	HMMPfam_Synapsin_N,PatternScan_SYNAPSIN_1,HMMPfam_Synapsin,superfamily_PreATP-grasp domain,superfamily_Glutathione synthetase ATP-binding domain-like,HMMPfam_Synapsin_C,PatternScan_SYNAPSIN_2	p.T551	ENST00000358763.2	37	c.1653	CCDS13908.1	22																																																																																			-	NULL		0.532	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	protein_coding	OTTHUMT00000075892.4	G			31239769	-1	no_errors	NM_003490	genbank	human	reviewed	54_36p	silent	SNP	0.826	A
SLC26A8	116369	genome.wustl.edu	37	6	35927347	35927347	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr6:35927347G>C	ENST00000490799.1	-	16	2106	c.1753C>G	c.(1753-1755)Ctt>Gtt	p.L585V	SLC26A8_ENST00000394602.2_Missense_Mutation_p.L480V|SLC26A8_ENST00000355574.2_Missense_Mutation_p.L585V	NM_052961.3	NP_443193.1			solute carrier family 26 (anion exchanger), member 8											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TCTTCTTTAAGAGGCACCTTT	0.438																																																0			6											93.0	95.0	94.0					6																	35927347		2203	4300	6503	36035325	SO:0001583	missense	116369			AF331522	CCDS4813.1, CCDS4814.1	6p21	2013-07-18	2013-07-18		ENSG00000112053	ENSG00000112053		"""Solute carriers"""	14468	protein-coding gene	gene with protein product		608480	"""solute carrier family 26, member 8"""			11834742, 11829495	Standard	NM_001193476		Approved		uc003olm.3	Q96RN1	OTTHUMG00000014586	ENST00000490799.1:c.1753C>G	6.37:g.35927347G>C	ENSP00000417638:p.Leu585Val		36035325		Missense_Mutation	SNP	HMMPfam_Sulfate_transp,HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa	p.L585V	ENST00000490799.1	37	c.1753	CCDS4813.1	6	.	.	.	.	.	.	.	.	.	.	G	8.470	0.857418	0.17106	.	.	ENSG00000112053	ENST00000490799;ENST00000394602;ENST00000355574	D;D;D	0.95656	-3.41;-3.77;-3.41	5.36	4.48	0.54585	Sulphate transporter/antisigma-factor antagonist STAS (3);	0.217590	0.32578	N	0.005911	D	0.89121	0.6625	L	0.39245	1.2	0.29080	N	0.882774	B;P;P	0.45474	0.235;0.513;0.859	B;B;P	0.45610	0.19;0.136;0.487	D	0.83404	0.0024	10	0.26408	T	0.33	.	11.4837	0.50342	0.0:0.0:0.8204:0.1796	.	585;480;167	Q96RN1;Q96RN1-2;Q96RN1-3	S26A8_HUMAN;.;.	V	585;480;585	ENSP00000417638:L585V;ENSP00000378100:L480V;ENSP00000347778:L585V	ENSP00000347778:L585V	L	-	1	0	SLC26A8	36035325	1.000000	0.71417	0.875000	0.34327	0.103000	0.19146	2.901000	0.48695	1.250000	0.43966	-0.324000	0.08512	CTT	-	HMMPfam_STAS,superfamily_Anti-sigma factor antagonist SpoIIaa		0.438	SLC26A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A8	protein_coding	OTTHUMT00000040325.2	G			36035325	-1	no_errors	NM_052961	genbank	human	reviewed	54_36p	missense	SNP	0.516	C
THBS1	7057	genome.wustl.edu	37	15	39886353	39886353	+	Silent	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr15:39886353C>T	ENST00000260356.5	+	20	3486	c.3321C>T	c.(3319-3321)gcC>gcT	p.A1107A	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1107	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		ATTTCACCGCCTACAGATGGC	0.483																																																0			15											63.0	61.0	62.0					15																	39886353		2200	4297	6497	37673645	SO:0001819	synonymous_variant	7057				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3321C>T	15.37:g.39886353C>T			37673645	A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Silent	SNP	HMMSmart_SM00210,superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_VWC,HMMSmart_SM00214,PatternScan_VWFC_1,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMSmart_SM00179,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_2,superfamily_TSP type-3 repeat,HMMPfam_TSP_3,HMMPfam_TSP_C	p.A1107	ENST00000260356.5	37	c.3321	CCDS32194.1	15																																																																																			-	superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_TSP_C		0.483	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	protein_coding	OTTHUMT00000257831.2	C	NM_003246		37673645	+1	no_errors	NM_003246	genbank	human	reviewed	54_36p	silent	SNP	0.998	T
SLC7A9	11136	genome.wustl.edu	37	19	33355662	33355662	+	Silent	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr19:33355662G>A	ENST00000023064.4	-	3	299	c.108C>T	c.(106-108)atC>atT	p.I36I	SLC7A9_ENST00000590341.1_Silent_p.I36I|RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000587772.1_Silent_p.I36I	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	36					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CGATGATGGAGATGCCACTGA	0.617																																					GBM(181;1335 2108 9644 44178 46689)											0			19											167.0	156.0	159.0					19																	33355662		2203	4300	6503	38047502	SO:0001819	synonymous_variant	11136			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.108C>T	19.37:g.33355662G>A			38047502	B2R9A6	Silent	SNP	HMMPfam_AA_permease	p.I36	ENST00000023064.4	37	c.108	CCDS12425.1	19																																																																																			-	HMMPfam_AA_permease		0.617	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	protein_coding	OTTHUMT00000450585.1	G			38047502	-1	no_errors	NM_014270	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
WHSC1L1	54904	genome.wustl.edu	37	8	38146956	38146956	+	Silent	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr8:38146956C>T	ENST00000317025.8	-	18	3703	c.3186G>A	c.(3184-3186)gaG>gaA	p.E1062E	WHSC1L1_ENST00000433384.2_Silent_p.E1013E|WHSC1L1_ENST00000527502.1_Silent_p.E1062E	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1062					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TTTTTTCAATCTCTAGGGCTT	0.368			T	NUP98	AML																																		Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0			8											242.0	223.0	229.0					8																	38146956		1811	4068	5879	38266113	SO:0001819	synonymous_variant	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3186G>A	8.37:g.38146956C>T			38266113	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Silent	SNP	superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_SET domain,HMMSmart_SM00570,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508	p.E1062	ENST00000317025.8	37	c.3186	CCDS43729.1	8																																																																																			-	superfamily_SET domain		0.368	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	protein_coding	OTTHUMT00000381924.3	C	NM_023034		38266113	-1	no_errors	NM_023034	genbank	human	reviewed	54_36p	silent	SNP	0.979	T
PIAS2	9063	genome.wustl.edu	37	18	44400988	44400988	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr18:44400988G>A	ENST00000585916.1	-	12	1555	c.1556C>T	c.(1555-1557)tCg>tTg	p.S519L	PIAS2_ENST00000324794.7_Missense_Mutation_p.S519L|PIAS2_ENST00000545673.1_Missense_Mutation_p.S229L	NM_004671.3	NP_004662.2	O75928	PIAS2_HUMAN	protein inhibitor of activated STAT, 2	519					androgen receptor signaling pathway (GO:0030521)|negative regulation of androgen receptor signaling pathway (GO:0060766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|regulation of osteoblast differentiation (GO:0045667)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.S519L(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	22						AGGATCAACCGAAGTCACACT	0.448																																																2	Substitution - Missense(2)	large_intestine(2)	18											222.0	190.0	201.0					18																	44400988		2203	4300	6503	42654986	SO:0001583	missense	9063			AF077953	CCDS32824.1, CCDS32825.1	18q12.1-q12.3	2011-10-11				ENSG00000078043		"""Zinc fingers, MIZ-type"""	17311	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 4"""	603567				9724754, 9256341	Standard	NM_004671		Approved	PIASX-BETA, miz, PIASX-ALPHA, ZMIZ4	uc002lck.3	O75928		ENST00000585916.1:c.1556C>T	18.37:g.44400988G>A	ENSP00000465676:p.Ser519Leu		42654986	O75927|Q96BT5|Q96KE3	Missense_Mutation	SNP	HMMPfam_SAP,HMMSmart_SM00513,superfamily_RING/U-box,HMMPfam_zf-MIZ	p.S519L	ENST00000585916.1	37	c.1556	CCDS32824.1	18	.	.	.	.	.	.	.	.	.	.	G	16.69	3.192791	0.58017	.	.	ENSG00000078043	ENST00000398654;ENST00000262161;ENST00000545673;ENST00000324794	T;T	0.46063	0.88;1.45	5.76	4.88	0.63580	.	0.485781	0.22326	N	0.061533	T	0.36441	0.0967	L	0.36672	1.1	0.80722	D	1	B;B;B	0.28082	0.2;0.148;0.012	B;B;B	0.26969	0.075;0.039;0.002	T	0.21965	-1.0230	10	0.72032	D	0.01	-0.1011	15.2294	0.73374	0.0:0.266:0.734:0.0	.	229;519;519	B4DGW0;O75928-2;O75928	.;.;PIAS2_HUMAN	L	519;519;229;519	ENSP00000443238:S229L;ENSP00000317163:S519L	ENSP00000262161:S519L	S	-	2	0	PIAS2	42654986	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.657000	0.67996	1.421000	0.47157	0.650000	0.86243	TCG	-	NULL		0.448	PIAS2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PIAS2	protein_coding	OTTHUMT00000445656.2	G	NM_004671		42654986	-1	no_errors	NM_004671	genbank	human	validated	54_36p	missense	SNP	1.000	A
ZNF571	51276	genome.wustl.edu	37	19	38056088	38056088	+	Silent	SNP	G	G	A	rs143272285	byFrequency	TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr19:38056088G>A	ENST00000328550.2	-	4	1341	c.1242C>T	c.(1240-1242)acC>acT	p.T414T	ZNF571-AS1_ENST00000589750.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000358744.3_Silent_p.T414T|ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000593133.1_Silent_p.T414T|ZNF571_ENST00000451802.2_Silent_p.T414T|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	414					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCTTCTCTCCGGTATGAATTC	0.373													G|||	4	0.000798722	0.0	0.0	5008	,	,		20876	0.0		0.003	False		,,,				2504	0.001															0			19						G		3,4403	4.2+/-10.8	0,3,2200	36.0	40.0	39.0		1242	-6.9	0.5	19	dbSNP_134	39	22,8578	15.3+/-51.7	0,22,4278	no	coding-synonymous	ZNF571	NM_016536.3		0,25,6478	AA,AG,GG		0.2558,0.0681,0.1922		414/610	38056088	25,12981	2203	4300	6503	42747928	SO:0001819	synonymous_variant	51276			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1242C>T	19.37:g.38056088G>A			42747928	Q2HIY0|Q3ZCU3|Q9NZX7	Silent	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.T414	ENST00000328550.2	37	c.1242	CCDS12505.1	19																																																																																			-	superfamily_SSF57667		0.373	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF571	protein_coding	OTTHUMT00000458669.1	G	NM_016536		42747928	-1	no_errors	NM_016536	genbank	human	validated	54_36p	silent	SNP	0.134	A
ZKSCAN7	55888	genome.wustl.edu	37	3	44622071	44622071	+	Intron	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr3:44622071G>A	ENST00000419137.1	+	3	316				RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron																							TTGTTGGTCCGGGGATAGACC	0.577																																																0			3																																								44597075	SO:0001627	intron_variant	0																														ENST00000419137.1:c.316+12146G>A	3.37:g.44622071G>A			44597075		Missense_Mutation	SNP	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH	p.R146W	ENST00000419137.1	37	c.436		3																																																																																			-	superfamily_SSF50729,HMMSmart_PH		0.577	RP11-944L7.5-001	PUTATIVE	mRNA_start_NF|cds_start_NF|basic|appris_principal|readthrough_transcript	protein_coding	ENSG00000214820	protein_coding	OTTHUMT00000343829.1	G			44597075	-1	no_start_codon:no_stop_codon	ENST00000399045	ensembl	human	known	54_36p	missense	SNP	0.999	A
OR4C13	283092	genome.wustl.edu	37	11	49974531	49974531	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr11:49974531C>T	ENST00000555099.1	+	1	589	c.557C>T	c.(556-558)gCc>gTc	p.A186V		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	186						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATCAATCTTGCCTGCACTAAT	0.438																																																0			11											232.0	205.0	214.0					11																	49974531		2201	4296	6497	49931107	SO:0001583	missense	283092			AB065750	CCDS31495.1	11p11.12	2012-10-03			ENSG00000258817	ENSG00000258817		"""GPCR / Class A : Olfactory receptors"""	15169	protein-coding gene	gene with protein product							Standard	NM_001001955		Approved		uc010rhz.2	Q8NGP0	OTTHUMG00000166686	ENST00000555099.1:c.557C>T	11.37:g.49974531C>T	ENSP00000452277:p.Ala186Val		49931107	A6NJJ3|B9EH30|Q6IF48|Q96R68	Missense_Mutation	SNP	PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321,HMMPfam_7tm_1	p.A186V	ENST00000555099.1	37	c.557	CCDS31495.1	11	.	.	.	.	.	.	.	.	.	.	.	3.393	-0.123836	0.06795	.	.	ENSG00000258817	ENST00000555099	T	0.00183	8.6	2.7	1.77	0.24775	GPCR, rhodopsin-like superfamily (1);	0.145928	0.31636	N	0.007304	T	0.00210	0.0006	M	0.71036	2.16	0.20196	N	0.999923	B	0.19331	0.035	B	0.26969	0.075	T	0.29579	-1.0007	9	.	.	.	.	7.2981	0.26405	0.0:0.8576:0.0:0.1424	.	186	Q8NGP0	OR4CD_HUMAN	V	186	ENSP00000452277:A186V	.	A	+	2	0	OR4C13	49931107	0.000000	0.05858	0.976000	0.42696	0.088000	0.18126	0.162000	0.16501	0.474000	0.27392	0.186000	0.17326	GCC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.438	OR4C13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C13	protein_coding	OTTHUMT00000391103.1	C	NM_001001955		49931107	+1	no_errors	NM_001001955	genbank	human	provisional	54_36p	missense	SNP	0.997	T
CGB1	114335	genome.wustl.edu	37	19	49542006	49542006	+	Intron	SNP	A	A	G	rs148385491	byFrequency	TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr19:49542006A>G	ENST00000391869.3	-	2	25				CGB1_ENST00000301407.7_5'Flank|CTB-60B18.6_ENST00000591656.1_5'Flank			A6NKQ9	CGB1_HUMAN	chorionic gonadotropin, beta polypeptide 1							extracellular region (GO:0005576)				liver(1)|lung(1)	2		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CAGGCACCTCACCCAACACCT	0.612													a|||	260	0.0519169	0.0681	0.0548	5008	,	,		16266	0.0099		0.0835	False		,,,				2504	0.0389															0			19																																								54233818	SO:0001627	intron_variant	0			S80935	CCDS12751.2	19q13.32	2012-10-03				ENSG00000267631			16721	protein-coding gene	gene with protein product		608823				6194155	Standard	NM_033377		Approved		uc002plx.3	A6NKQ9	OTTHUMG00000150186	ENST00000391869.3:c.10-2446T>C	19.37:g.49542006A>G			54233818	A4FVC8|A8MUK6	Silent	SNP	superfamily_SSF57501,HMMPfam_NGF,HMMSmart_NGF	p.G168	ENST00000391869.3	37	c.504		19																																																																																			-	superfamily_SSF57501,HMMPfam_NGF,HMMSmart_NGF		0.612	CGB1-201	KNOWN	basic|appris_candidate_longest	protein_coding	NTF6B	protein_coding		A	NM_033377		54233818	-1	no_start_codon	ENST00000391533	ensembl	human	known	54_36p	silent	SNP	0.281	G
CDH26	60437	genome.wustl.edu	37	20	58562616	58562616	+	Silent	SNP	T	T	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr20:58562616T>C	ENST00000244047.5	+	8	1257	c.946T>C	c.(946-948)Ttg>Ctg	p.L316L	CDH26_ENST00000348616.4_Silent_p.L316L			Q8IXH8	CAD26_HUMAN	cadherin 26	316	Cadherin 3. {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)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ATTCAACATATTGCATGGCAA	0.463																																																0			20											121.0	97.0	105.0					20																	58562616		2203	4300	6503	57996011	SO:0001819	synonymous_variant	60437			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.946T>C	20.37:g.58562616T>C			57996011	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	superfamily_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.L316	ENST00000244047.5	37	c.946		20																																																																																			-	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA		0.463	CDH26-201	KNOWN	basic	protein_coding	CDH26	protein_coding		T	NM_177980		57996011	+1	no_errors	NM_177980	genbank	human	reviewed	54_36p	silent	SNP	0.000	C
DTX4	23220	genome.wustl.edu	37	11	58949652	58949652	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr11:58949652C>G	ENST00000227451.3	+	2	756	c.652C>G	c.(652-654)Cgc>Ggc	p.R218G	DTX4_ENST00000532982.1_Missense_Mutation_p.R112G	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex 4, E3 ubiquitin ligase	218					innate immune response (GO:0045087)|Notch signaling pathway (GO:0007219)|positive regulation of type I interferon production (GO:0032481)|protein ubiquitination (GO:0016567)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GCCAGTGACCCGCAAGAACAT	0.627																																																0			11											22.0	28.0	26.0					11																	58949652		2006	4170	6176	58706228	SO:0001583	missense	23220			AB023154	CCDS44612.1	11q12.2	2014-01-28	2014-01-28		ENSG00000110042	ENSG00000110042		"""RING-type (C3HC4) zinc fingers"""	29151	protein-coding gene	gene with protein product			"""deltex 4 homolog (Drosophila)"", ""deltex homolog 4 (Drosophila)"""			10231032, 22388039	Standard	NM_015177		Approved	KIAA0937, RNF155	uc001nns.2	Q9Y2E6	OTTHUMG00000167336	ENST00000227451.3:c.652C>G	11.37:g.58949652C>G	ENSP00000227451:p.Arg218Gly		58706228	Q0VF38	Missense_Mutation	SNP	HMMPfam_WWE,HMMSmart_SM00678,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4	p.R218G	ENST00000227451.3	37	c.652	CCDS44612.1	11	.	.	.	.	.	.	.	.	.	.	C	7.808	0.715155	0.15306	.	.	ENSG00000110042	ENST00000532982;ENST00000227451	T;T	0.12039	2.72;2.9	4.32	4.32	0.51571	.	1.287480	0.05950	N	0.638651	T	0.32315	0.0825	L	0.54323	1.7	0.36988	D	0.894667	D	0.60160	0.987	D	0.65010	0.931	T	0.03673	-1.1014	10	0.17832	T	0.49	.	14.1816	0.65578	0.0:1.0:0.0:0.0	.	218	Q9Y2E6	DTX4_HUMAN	G	112;218	ENSP00000434055:R112G;ENSP00000227451:R218G	ENSP00000227451:R218G	R	+	1	0	DTX4	58706228	0.616000	0.27035	0.990000	0.47175	0.127000	0.20565	0.919000	0.28692	2.410000	0.81850	0.655000	0.94253	CGC	-	NULL		0.627	DTX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX4	protein_coding	OTTHUMT00000394228.1	C	XM_166213		58706228	+1	no_errors	NM_015177	genbank	human	validated	54_36p	missense	SNP	0.536	G
UBXN1	51035	genome.wustl.edu	37	11	62444292	62444292	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr11:62444292C>A	ENST00000301935.5	-	8	1003	c.837G>T	c.(835-837)caG>caT	p.Q279H	UBXN1_ENST00000524762.1_5'Flank|UBXN1_ENST00000529640.1_Missense_Mutation_p.Q275H|UBXN1_ENST00000533000.1_Intron|UBXN1_ENST00000294119.2_Missense_Mutation_p.Q279H			Q04323	UBXN1_HUMAN	UBX domain protein 1	279	Interaction with BRCA1.|UBX. {ECO:0000255|PROSITE- ProRule:PRU00215}.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	Cdc48p-Npl4p-Ufd1p AAA ATPase complex (GO:0034098)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|K6-linked polyubiquitin binding (GO:0071796)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|lung(12)	17						TACCCAGCTCCTGCAGAGGCC	0.582																																																0			11											107.0	113.0	111.0					11																	62444292		2202	4299	6501	62200868	SO:0001583	missense	51035				CCDS8029.1, CCDS66105.1, CCDS73307.1	11q23	2014-02-12	2008-07-25		ENSG00000162191	ENSG00000162191		"""UBX domain containing"""	18402	protein-coding gene	gene with protein product	"""SAPK substrate protein 1"""					12838346, 20351172	Standard	NM_001286078		Approved	LOC51035, 2B28, UBXD10, SAKS1	uc001nuj.3	Q04323	OTTHUMG00000167580	ENST00000301935.5:c.837G>T	11.37:g.62444292C>A	ENSP00000303991:p.Gln279His		62200868	Q9BV93|Q9BVV5	Missense_Mutation	SNP	HMMPfam_UBA,HMMSmart_UBA,superfamily_UBA_like,superfamily_SSF54236,HMMSmart_UBX,HMMPfam_UBX	p.Q279H	ENST00000301935.5	37	c.837		11	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132221	0.56828	.	.	ENSG00000162191	ENST00000294119;ENST00000301935;ENST00000537534;ENST00000529640;ENST00000534176	T;T;T;T	0.23754	1.89;1.91;1.91;1.91	5.24	4.33	0.51752	UBX (3);	0.104115	0.64402	D	0.000002	T	0.39627	0.1085	L	0.49778	1.585	0.47698	D	0.999499	D;D;D	0.65815	0.99;0.995;0.994	P;D;P	0.67231	0.9;0.95;0.892	T	0.16958	-1.0385	10	0.54805	T	0.06	-17.3068	8.5566	0.33485	0.0:0.8214:0.0:0.1786	.	275;279;279	E9PRQ7;Q04323;Q04323-2	.;UBXN1_HUMAN;.	H	279;279;182;275;279	ENSP00000294119:Q279H;ENSP00000303991:Q279H;ENSP00000435964:Q275H;ENSP00000435625:Q279H	ENSP00000294119:Q279H	Q	-	3	2	UBXN1	62200868	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.597000	0.36729	1.518000	0.48934	0.655000	0.94253	CAG	-	superfamily_SSF54236,HMMSmart_UBX,HMMPfam_UBX		0.582	UBXN1-002	KNOWN	basic|appris_candidate_longest	protein_coding	UBXN1	protein_coding	OTTHUMT00000395153.1	C	NM_015853		62200868	-1	no_errors	NM_015853	genbank	human	provisional	54_36p	missense	SNP	1.000	A
ZBTB3	79842	genome.wustl.edu	37	11	62520022	62520022	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr11:62520022G>T	ENST00000394807.3	-	2	1390	c.1265C>A	c.(1264-1266)cCc>cAc	p.P422H		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	422					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						CAGATGGTAGGGTAGATGAGG	0.602																																																0			11											58.0	49.0	52.0					11																	62520022		2202	4299	6501	62276598	SO:0001583	missense	79842			AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.1265C>A	11.37:g.62520022G>T	ENSP00000378286:p.Pro422His		62276598		Missense_Mutation	SNP	superfamily_BTB/POZ_fold,HMMPfam_BTB,HMMSmart_BTB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2	p.P422H	ENST00000394807.3	37	c.1265	CCDS8034.1	11	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836059	0.50951	.	.	ENSG00000185670	ENST00000394807	T	0.16743	2.32	4.51	4.51	0.55191	.	0.119100	0.64402	D	0.000018	T	0.27798	0.0684	L	0.27053	0.805	0.37954	D	0.932744	D	0.89917	1.0	D	0.68765	0.96	T	0.14227	-1.0480	10	0.54805	T	0.06	.	14.7364	0.69419	0.0:0.0:1.0:0.0	.	422	Q9H5J0	ZBTB3_HUMAN	H	422	ENSP00000378286:P422H	ENSP00000378286:P422H	P	-	2	0	ZBTB3	62276598	1.000000	0.71417	0.982000	0.44146	0.929000	0.56500	1.485000	0.35519	2.066000	0.61787	0.561000	0.74099	CCC	-	NULL		0.602	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB3	protein_coding	OTTHUMT00000395342.1	G	NM_024784		62276598	-1	no_errors	NM_024784	genbank	human	validated	54_36p	missense	SNP	0.964	T
MTMR8	55613	genome.wustl.edu	37	X	63576113	63576113	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chrX:63576113C>G	ENST00000374852.3	-	3	320	c.253G>C	c.(253-255)Gat>Cat	p.D85H	MTMR8_ENST00000453546.1_Missense_Mutation_p.D85H	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	85						nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGGTCAGAATCTAAAACAAAG	0.428																																																1	Whole gene deletion(1)	ovary(1)	X											53.0	45.0	48.0					X																	63576113		2203	4300	6503	63492838	SO:0001583	missense	55613			AK000133	CCDS14379.1	Xq11.2-q12	2013-01-11			ENSG00000102043	ENSG00000102043		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	16825	protein-coding gene	gene with protein product						11275328	Standard	NM_017677		Approved	FLJ20126	uc004dvs.3	Q96EF0	OTTHUMG00000021707	ENST00000374852.3:c.253G>C	X.37:g.63576113C>G	ENSP00000363985:p.Asp85His		63492838	Q5JT99|Q9NXP6	Missense_Mutation	SNP	superfamily_PH domain-like,superfamily_(Phosphotyrosine protein) phosphatases II,HMMPfam_Myotub-related,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.D85H	ENST00000374852.3	37	c.253	CCDS14379.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.380|9.380	1.072681|1.072681	0.20147|0.20147	.|.	.|.	ENSG00000102043|ENSG00000102043	ENST00000453546;ENST00000374852;ENST00000247400|ENST00000442913	D;D|.	0.82803|.	-1.65;-1.65|.	2.69|2.69	2.69|2.69	0.31865|0.31865	.|.	0.602490|.	0.14137|.	U|.	0.338982|.	T|T	0.18551|0.18551	0.0445|0.0445	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.30193|.	0.214;0.272|.	B;B|.	0.39738|.	0.043;0.308|.	T|T	0.19976|0.19976	-1.0289|-1.0289	10|5	0.54805|.	T|.	0.06|.	.|.	8.4588|8.4588	0.32915|0.32915	0.0:0.763:0.2369:0.0|0.0:0.763:0.2369:0.0	.|.	85;85|.	B4DQL0;Q96EF0|.	.;MTMR8_HUMAN|.	H|T	85;85;84|1	ENSP00000394003:D85H;ENSP00000363985:D85H|.	ENSP00000247400:D84H|.	D|R	-|-	1|2	0|0	MTMR8|MTMR8	63492838|63492838	0.409000|0.409000	0.25368|0.25368	0.297000|0.297000	0.24988|0.24988	0.879000|0.879000	0.50718|0.50718	1.253000|1.253000	0.32886|0.32886	1.361000|1.361000	0.45981|0.45981	0.513000|0.513000	0.50165|0.50165	GAT|AGA	-	superfamily_PH domain-like		0.428	MTMR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR8	protein_coding	OTTHUMT00000056949.2	C	NM_017677		63492838	-1	no_errors	NM_017677	genbank	human	provisional	54_36p	missense	SNP	0.004	G
SYNE2	23224	genome.wustl.edu	37	14	64586322	64586322	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr14:64586322G>T	ENST00000344113.4	+	67	13230	c.13018G>T	c.(13018-13020)Gat>Tat	p.D4340Y	SYNE2_ENST00000357395.3_Missense_Mutation_p.D725Y|SYNE2_ENST00000358025.3_Missense_Mutation_p.D4340Y|SYNE2_ENST00000555002.1_Missense_Mutation_p.D974Y|SYNE2_ENST00000394768.2_Missense_Mutation_p.D725Y|SYNE2_ENST00000554584.1_Missense_Mutation_p.D4355Y|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000553455.1_Missense_Mutation_p.D59Y	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4340					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCACAGTGAAGATCAGGTAAA	0.428																																																0			14											59.0	54.0	56.0					14																	64586322		2203	4300	6503	63656075	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.13018G>T	14.37:g.64586322G>T	ENSP00000341781:p.Asp4340Tyr		63656075	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMSmart_SPEC,HMMPfam_Spectrin,superfamily_4_helix_cytokine,HMMPfam_KASH	p.D4340Y	ENST00000344113.4	37	c.13018	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	13.50	2.255740	0.39896	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000553455	T;T;T;T;T;T	0.57273	0.8;4.11;0.8;0.41;4.16;4.11	5.35	2.5	0.30297	.	0.199145	0.34802	N	0.003664	T	0.57858	0.2082	L	0.47716	1.5	0.80722	D	1	P;D;D	0.60575	0.889;0.979;0.988	P;P;P	0.58873	0.709;0.707;0.847	T	0.57476	-0.7805	10	0.52906	T	0.07	.	10.4193	0.44341	0.2134:0.0:0.7866:0.0	.	725;4340;4340	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	Y	4340;725;4340;4355;4355;974;725;59	ENSP00000350719:D4340Y;ENSP00000349969:D725Y;ENSP00000341781:D4340Y;ENSP00000452570:D4355Y;ENSP00000450831:D974Y;ENSP00000378249:D725Y	ENSP00000261678:D4355Y	D	+	1	0	SYNE2	63656075	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	3.137000	0.50562	0.748000	0.32831	0.563000	0.77884	GAT	-	NULL		0.428	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	protein_coding	OTTHUMT00000276994.2	G	NM_182914		63656075	+1	no_errors	NM_182914	genbank	human	validated	54_36p	missense	SNP	0.996	T
Unknown	0	genome.wustl.edu	37	5	65868499	65868499	+	IGR	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr5:65868499C>T								RP11-5P22.3 (61067 upstream) : MAST4 (23676 downstream)																							GCTGCAGTTCCCTTTGGGTTC	0.413																																																0			5																																								65904255	SO:0001628	intergenic_variant	202227																															5.37:g.65868499C>T			65904255		RNA	SNP	-	NULL		37	NULL		5																																																																																			-	-	0	0.413					LOC202227			C			65904255	+1	pseudogene	XR_016767	genbank	human	model	54_36p	rna	SNP	0.911	T
IL26	55801	genome.wustl.edu	37	12	68595709	68595709	+	Missense_Mutation	SNP	A	A	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr12:68595709A>C	ENST00000229134.4	-	5	496	c.432T>G	c.(430-432)atT>atG	p.I144M	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	144					cell-cell signaling (GO:0007267)|negative regulation of epithelial cell proliferation (GO:0050680)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		CTTTGTTTCCAATCTGCAGAT	0.279																																																0			12											50.0	53.0	52.0					12																	68595709		2197	4294	6491	66881976	SO:0001583	missense	55801			AJ251549	CCDS8981.1	12q15	2008-08-04			ENSG00000111536	ENSG00000111536		"""Interleukins and interleukin receptors"""	17119	protein-coding gene	gene with protein product		605679				10729163, 11528524	Standard	NM_018402		Approved	AK155, IL-26	uc001stx.1	Q9NPH9	OTTHUMG00000169114	ENST00000229134.4:c.432T>G	12.37:g.68595709A>C	ENSP00000229134:p.Ile144Met		66881976		Missense_Mutation	SNP	superfamily_4_helix_cytokine,HMMSmart_IL10,PatternScan_INTERLEUKIN_10,HMMPfam_IL10	p.I144M	ENST00000229134.4	37	c.432	CCDS8981.1	12	.	.	.	.	.	.	.	.	.	.	A	12.96	2.094811	0.36952	.	.	ENSG00000111536	ENST00000229134	T	0.64085	-0.08	5.39	4.21	0.49690	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.247537	0.28219	N	0.016156	T	0.60143	0.2246	L	0.40543	1.245	0.33100	D	0.539162	P	0.48998	0.918	P	0.52267	0.694	T	0.67313	-0.5702	9	.	.	.	-19.0888	8.5715	0.33572	0.9105:0.0:0.0895:0.0	.	144	Q9NPH9	IL26_HUMAN	M	144	ENSP00000229134:I144M	.	I	-	3	3	IL26	66881976	1.000000	0.71417	1.000000	0.80357	0.416000	0.31233	1.767000	0.38501	0.952000	0.37798	0.460000	0.39030	ATT	-	superfamily_4_helix_cytokine,HMMSmart_IL10,HMMPfam_IL10		0.279	IL26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL26	protein_coding	OTTHUMT00000402302.1	A	NM_018402		66881976	-1	no_errors	NM_018402	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
PLEKHH1	57475	genome.wustl.edu	37	14	68053893	68053893	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr14:68053893G>A	ENST00000329153.5	+	29	4168	c.4036G>A	c.(4036-4038)Gat>Aat	p.D1346N	PLEKHH1_ENST00000417684.2_Missense_Mutation_p.G287E	NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	1346						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GTGGGAACTGGATGGACGACA	0.527																																																0			14											121.0	132.0	128.0					14																	68053893		1955	4137	6092	67123646	SO:0001583	missense	57475			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.4036G>A	14.37:g.68053893G>A	ENSP00000330278:p.Asp1346Asn		67123646	A6H8X6|Q6PJL4|Q6ZWC7	Missense_Mutation	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00139,HMMPfam_MyTH4,HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M	p.D1346N	ENST00000329153.5	37	c.4036	CCDS45128.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.182208|4.182208	0.78677|0.78677	.|.	.|.	ENSG00000054690|ENSG00000054690	ENST00000329153|ENST00000417684	T|.	0.74002|.	-0.8|.	5.44|5.44	4.55|4.55	0.56014|0.56014	.|.	0.098766|.	0.64402|.	D|.	0.000002|.	T|T	0.58352|0.58352	0.2116|0.2116	L|L	0.56769|0.56769	1.78|1.78	0.27516|0.27516	N|N	0.951549|0.951549	B|D	0.34103|0.59767	0.437|0.986	B|P	0.34931|0.54060	0.192|0.741	T|T	0.56294|0.56294	-0.8003|-0.8003	10|8	0.19147|0.87932	T|D	0.46|0	.|.	14.6944|14.6944	0.69110|0.69110	0.0:0.1446:0.8554:0.0|0.0:0.1446:0.8554:0.0	.|.	1346|287	Q9ULM0|E7ESY2	PKHH1_HUMAN|.	N|E	1346|287	ENSP00000330278:D1346N|.	ENSP00000330278:D1346N|ENSP00000397712:G287E	D|G	+|+	1|2	0|0	PLEKHH1|PLEKHH1	67123646|67123646	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.768000|0.768000	0.43524|0.43524	6.211000|6.211000	0.72182|0.72182	1.519000|1.519000	0.48950|0.48950	-0.175000|-0.175000	0.13238|0.13238	GAT|GGA	-	NULL		0.527	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	protein_coding	OTTHUMT00000412730.3	G	XM_031054		67123646	+1	no_errors	NM_020715	genbank	human	validated	54_36p	missense	SNP	0.997	A
DGAT2L6	347516	genome.wustl.edu	37	X	69424950	69424950	+	Missense_Mutation	SNP	T	T	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chrX:69424950T>G	ENST00000333026.3	+	7	1108	c.1008T>G	c.(1006-1008)atT>atG	p.I336M		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	336					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.I336I(1)		breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						AGCTGACAATTACATAACAGG	0.483																																																1	Substitution - coding silent(1)	large_intestine(1)	X											75.0	58.0	64.0					X																	69424950		2203	4300	6503	69341675	SO:0001583	missense	347516			AK129500	CCDS14397.1	Xq13.1	2008-02-05			ENSG00000184210	ENSG00000184210			23250	protein-coding gene	gene with protein product		300926				15671038	Standard	NM_198512		Approved	DC3, FLJ25989	uc004dxx.1	Q6ZPD8	OTTHUMG00000021774	ENST00000333026.3:c.1008T>G	X.37:g.69424950T>G	ENSP00000328036:p.Ile336Met		69341675	Q6IEE2	Missense_Mutation	SNP	HMMPfam_DAGAT	p.I336M	ENST00000333026.3	37	c.1008	CCDS14397.1	X	.	.	.	.	.	.	.	.	.	.	T	10.02	1.236850	0.22711	.	.	ENSG00000184210	ENST00000333026	T	0.15487	2.42	4.74	0.499	0.16914	.	0.168840	0.39759	N	0.001264	T	0.37156	0.0993	M	0.85462	2.755	0.09310	N	0.999998	D	0.60160	0.987	D	0.64877	0.93	T	0.15093	-1.0449	10	0.59425	D	0.04	-14.2586	7.6956	0.28592	0.0:0.3949:0.0:0.6051	.	336	Q6ZPD8	DG2L6_HUMAN	M	336	ENSP00000328036:I336M	ENSP00000328036:I336M	I	+	3	3	DGAT2L6	69341675	0.084000	0.21492	0.016000	0.15963	0.148000	0.21650	0.079000	0.14782	-0.205000	0.10219	-0.438000	0.05819	ATT	-	HMMPfam_DAGAT		0.483	DGAT2L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT2L6	protein_coding	OTTHUMT00000057067.1	T	NM_198512		69341675	+1	no_errors	NM_198512	genbank	human	provisional	54_36p	missense	SNP	0.123	G
HYDIN	54768	genome.wustl.edu	37	16	70937538	70937538	+	Silent	SNP	A	A	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr16:70937538A>G	ENST00000393567.2	-	52	8989	c.8839T>C	c.(8839-8841)Ttg>Ctg	p.L2947L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2947					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGTGCAGCAAGAGCCGGTCA	0.488																																																0			16											1.0	1.0	1.0					16																	70937538		23	71	94	69495039	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.8839T>C	16.37:g.70937538A>G			69495039	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.L2946	ENST00000393567.2	37	c.8836	CCDS59269.1	16																																																																																			-	NULL		0.488	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	protein_coding	OTTHUMT00000398624.3	A			69495039	-1	no_errors	NM_032821	genbank	human	validated	54_36p	silent	SNP	0.999	G
SDAD1	55153	genome.wustl.edu	37	4	76878772	76878772	+	Missense_Mutation	SNP	G	G	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr4:76878772G>T	ENST00000356260.5	-	19	1786	c.1668C>A	c.(1666-1668)ttC>ttA	p.F556L	SDAD1_ENST00000513089.1_5'Flank|SDAD1_ENST00000395711.4_Missense_Mutation_p.F519L	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	556					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GGATTTTCTGGAAGTCTTCCT	0.493																																																0			4											112.0	113.0	113.0					4																	76878772		2203	4300	6503	77097796	SO:0001583	missense	55153			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.1668C>A	4.37:g.76878772G>T	ENSP00000348596:p.Phe556Leu		77097796	Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_NUC130_3NT,HMMPfam_SDA1	p.F556L	ENST00000356260.5	37	c.1668	CCDS3573.2	4	.	.	.	.	.	.	.	.	.	.	G	17.32	3.358675	0.61403	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.28666	1.6;1.6	5.15	5.15	0.70609	SDA1 (1);	0.000000	0.85682	D	0.000000	T	0.35970	0.0950	M	0.69358	2.11	0.80722	D	1	P;P	0.42620	0.673;0.785	B;B	0.42522	0.39;0.39	T	0.10042	-1.0647	10	0.18710	T	0.47	-5.9617	16.483	0.84163	0.0:0.0:1.0:0.0	.	519;556	E7EW05;Q9NVU7	.;SDA1_HUMAN	L	556;519	ENSP00000348596:F556L;ENSP00000379061:F519L	ENSP00000348596:F556L	F	-	3	2	SDAD1	77097796	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.276000	0.58933	2.581000	0.87130	0.650000	0.86243	TTC	-	HMMPfam_SDA1		0.493	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDAD1	protein_coding	OTTHUMT00000252418.3	G	NM_018115		77097796	-1	no_errors	NM_018115	genbank	human	validated	54_36p	missense	SNP	1.000	T
SEC31A	22872	genome.wustl.edu	37	4	83776077	83776077	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr4:83776077C>T	ENST00000395310.2	-	17	2169	c.1987G>A	c.(1987-1989)Gat>Aat	p.D663N	SEC31A_ENST00000326950.5_Missense_Mutation_p.D624N|SEC31A_ENST00000311785.7_Missense_Mutation_p.D663N|SEC31A_ENST00000348405.4_Missense_Mutation_p.D624N|SEC31A_ENST00000500777.2_Missense_Mutation_p.D624N|SEC31A_ENST00000443462.2_Missense_Mutation_p.D658N|SEC31A_ENST00000432794.1_Missense_Mutation_p.D663N|SEC31A_ENST00000448323.1_Missense_Mutation_p.D663N|SEC31A_ENST00000264405.5_Missense_Mutation_p.D396N|SEC31A_ENST00000508502.1_Missense_Mutation_p.D663N|SEC31A_ENST00000513858.1_Missense_Mutation_p.D624N|SEC31A_ENST00000508479.1_Missense_Mutation_p.D663N|SEC31A_ENST00000509142.1_Missense_Mutation_p.D663N|SEC31A_ENST00000505984.1_Missense_Mutation_p.D624N|SEC31A_ENST00000355196.2_Missense_Mutation_p.D663N|SEC31A_ENST00000505472.1_Missense_Mutation_p.D663N	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	663					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GAAAATTCATCCGGCTTTGCA	0.363																																																0			4											81.0	79.0	80.0					4																	83776077		2203	4300	6503	83995101	SO:0001583	missense	22872			AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.1987G>A	4.37:g.83776077C>T	ENSP00000378721:p.Asp663Asn		83995101	B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40	p.D663N	ENST00000395310.2	37	c.1987	CCDS3596.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.06|13.06	2.123530|2.123530	0.37436|0.37436	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984;ENST00000508479;ENST00000510167|ENST00000507828;ENST00000512664	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.39056|.	1.3;1.16;2.35;2.34;1.21;2.24;2.35;1.3;1.21;1.1;1.16;2.34;2.35;3.16;2.3;2.22;2.25|.	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	0.048224|.	0.85682|.	D|.	0.000000|.	T|T	0.59169|0.59169	0.2174|0.2174	L|L	0.31476|0.31476	0.935|0.935	0.58432|0.58432	D|D	0.999998|0.999998	B;B;B;B;B;B;B;B;B|.	0.19200|.	0.001;0.001;0.001;0.004;0.001;0.007;0.034;0.001;0.005|.	B;B;B;B;B;B;B;B;B|.	0.15484|.	0.012;0.004;0.009;0.011;0.002;0.011;0.013;0.007;0.012|.	T|T	0.52939|0.52939	-0.8508|-0.8508	10|5	0.87932|.	D|.	0|.	-18.1355|-18.1355	19.4176|19.4176	0.94708|0.94708	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	658;624;663;624;624;663;663;663;396|.	B4DIW6;B7ZL00;D6RHZ5;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7|.	.;.;.;.;.;.;.;SC31A_HUMAN;.|.	N|E	624;624;663;658;663;663;663;624;663;663;624;663;663;396;624;663;251|279;177	ENSP00000337602:D624N;ENSP00000426886:D624N;ENSP00000378721:D663N;ENSP00000408027:D658N;ENSP00000426569:D663N;ENSP00000407944:D663N;ENSP00000400926:D663N;ENSP00000325087:D624N;ENSP00000309070:D663N;ENSP00000421633:D663N;ENSP00000421464:D624N;ENSP00000424635:D663N;ENSP00000347329:D663N;ENSP00000264405:D396N;ENSP00000424451:D624N;ENSP00000425999:D663N;ENSP00000422267:D251N|.	ENSP00000264405:D396N|.	D|G	-|-	1|2	0|0	SEC31A|SEC31A	83995101|83995101	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.012000|0.012000	0.07955|0.07955	4.893000|4.893000	0.63199|0.63199	2.596000|2.596000	0.87737|0.87737	0.650000|0.650000	0.86243|0.86243	GAT|GGA	-	NULL		0.363	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEC31A	protein_coding	OTTHUMT00000252640.1	C	NM_016211		83995101	-1	no_errors	NM_001077207	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SEMA3D	223117	genome.wustl.edu	37	7	84671582	84671582	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr7:84671582C>T	ENST00000284136.6	-	8	924	c.881G>A	c.(880-882)cGc>cAc	p.R294H	SEMA3D_ENST00000484038.1_5'Flank	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	294	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TATCAGGCTGCGTTGTCCTCC	0.383																																					Ovarian(63;442 1191 17318 29975 31528)											0			7											270.0	245.0	254.0					7																	84671582		2203	4300	6503	84509518	SO:0001583	missense	223117			BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.881G>A	7.37:g.84671582C>T	ENSP00000284136:p.Arg294His		84509518	A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema,HMMPfam_PSI,HMMSmart_PSI,superfamily_Plexin-like_fold,HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IG	p.R294H	ENST00000284136.6	37	c.881	CCDS34676.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.419714	0.96111	.	.	ENSG00000153993	ENST00000284136	T	0.11930	2.73	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.088686	0.85682	D	0.000000	T	0.22898	0.0553	M	0.72576	2.205	0.80722	D	1	D	0.53885	0.963	B	0.42112	0.376	T	0.03139	-1.1068	10	0.87932	D	0	.	19.8309	0.96634	0.0:1.0:0.0:0.0	.	294	O95025	SEM3D_HUMAN	H	294	ENSP00000284136:R294H	ENSP00000284136:R294H	R	-	2	0	SEMA3D	84509518	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.684000	0.91462	0.650000	0.86243	CGC	-	superfamily_Sema,HMMPfam_Sema,HMMSmart_Sema		0.383	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3D	protein_coding	OTTHUMT00000336084.2	C	NM_152754		84509518	-1	no_errors	NM_152754	genbank	human	validated	54_36p	missense	SNP	1.000	T
TTC37	9652	genome.wustl.edu	37	5	94805498	94805498	+	Silent	SNP	G	G	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr5:94805498G>C	ENST00000358746.2	-	41	4780	c.4482C>G	c.(4480-4482)cgC>cgG	p.R1494R		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1494						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCCCCATTTTGCGTTTGAATT	0.358																																																0			5											71.0	79.0	76.0					5																	94805498		2203	4300	6503	94831254	SO:0001819	synonymous_variant	9652			AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.4482C>G	5.37:g.94805498G>C			94831254	O15077|Q6PJI3	Silent	SNP	HMMSmart_TPR,superfamily_SSF48452,HMMPfam_TPR_1,superfamily_Prenyl_trans,HMMPfam_Sel1,HMMSmart_SEL1	p.R1494	ENST00000358746.2	37	c.4482	CCDS4072.1	5																																																																																			-	NULL		0.358	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC37	protein_coding	OTTHUMT00000241651.1	G	NM_014639		94831254	-1	no_errors	NM_014639	genbank	human	provisional	54_36p	silent	SNP	0.988	C
TMTC4	84899	genome.wustl.edu	37	13	101287146	101287146	+	Silent	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr13:101287146C>T	ENST00000376234.3	-	11	1551	c.1362G>A	c.(1360-1362)acG>acA	p.T454T	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000342624.5_Silent_p.T473T|TMTC4_ENST00000328767.5_Silent_p.T343T	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	454						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACATCTCAGCGTGTTGATGA	0.507																																																0			13											117.0	115.0	116.0					13																	101287146		2203	4300	6503	100085147	SO:0001819	synonymous_variant	84899				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1362G>A	13.37:g.101287146C>T			100085147	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Silent	SNP	HMMPfam_DUF1736,superfamily_TPR-like,HMMPfam_TPR_2,HMMSmart_SM00028,HMMPfam_TPR_1	p.T473	ENST00000376234.3	37	c.1419	CCDS41904.1	13																																																																																			-	superfamily_TPR-like		0.507	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC4	protein_coding	OTTHUMT00000045649.2	C	NM_032813		100085147	-1	no_errors	NM_032813	genbank	human	validated	54_36p	silent	SNP	0.385	T
CUX1	1523	genome.wustl.edu	37	7	101844964	101844964	+	Missense_Mutation	SNP	C	C	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr7:101844964C>A	ENST00000292535.7	+	18	2425	c.2387C>A	c.(2386-2388)cCc>cAc	p.P796H	CUX1_ENST00000550008.2_Missense_Mutation_p.P740H|CUX1_ENST00000546411.2_Missense_Mutation_p.P694H|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.P774H|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.P638H|CUX1_ENST00000360264.3_Missense_Mutation_p.P807H	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	796					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGGCTGGACCCCCAGGGAGCA	0.677																																																0			7											20.0	25.0	23.0					7																	101844964		2198	4299	6497	101631684	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2387C>A	7.37:g.101844964C>A	ENSP00000292535:p.Pro796His		101631684	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	superfamily_lambda repressor-like DNA-binding domains,HMMPfam_CUT,superfamily_Homeodomain-like,HMMSmart_SM00389,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.P796H	ENST00000292535.7	37	c.2387	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801064	0.70567	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.60672	0.19;0.2;0.19;0.17;0.17;0.19	5.44	2.32	0.28847	.	0.459085	0.23120	N	0.051703	T	0.45196	0.1330	N	0.22421	0.69	0.80722	D	1	P;P	0.42649	0.681;0.786	B;P	0.46339	0.215;0.513	T	0.37979	-0.9682	10	0.66056	D	0.02	-0.0769	6.0706	0.19887	0.0:0.474:0.0:0.526	.	796;807	P39880;P39880-3	CUX1_HUMAN;.	H	807;796;774;740;694;638	ENSP00000353401:P807H;ENSP00000292535:P796H;ENSP00000446630:P774H;ENSP00000447373:P740H;ENSP00000450125:P694H;ENSP00000451558:P638H	ENSP00000292535:P796H	P	+	2	0	CUX1	101631684	0.934000	0.31675	0.560000	0.28344	0.925000	0.55904	1.512000	0.35812	0.562000	0.29204	0.655000	0.94253	CCC	-	NULL		0.677	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	protein_coding	OTTHUMT00000347535.1	C	NM_001913		101631684	+1	no_errors	NM_181552	genbank	human	reviewed	54_36p	missense	SNP	0.870	A
CUX1	1523	genome.wustl.edu	37	7	101882770	101882770	+	Nonsense_Mutation	SNP	C	C	T	rs201599167		TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr7:101882770C>T	ENST00000292535.7	+	23	3831	c.3793C>T	c.(3793-3795)Caa>Taa	p.Q1265*	CUX1_ENST00000550008.2_Nonsense_Mutation_p.Q1209*|CUX1_ENST00000546411.2_Nonsense_Mutation_p.Q1163*|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.Q1243*|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|AC005088.1_ENST00000580604.1_RNA|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000556210.1_Nonsense_Mutation_p.Q1107*|CUX1_ENST00000360264.3_Nonsense_Mutation_p.Q1276*	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	1265					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGCGTATCAGCAAAAGCCATA	0.592																																																0			7											118.0	114.0	115.0					7																	101882770		2203	4300	6503	101669490	SO:0001587	stop_gained	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.3793C>T	7.37:g.101882770C>T	ENSP00000292535:p.Gln1265*		101669490	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Nonsense_Mutation	SNP	HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_CUT,superfamily_Homeodomain-like,superfamily_lambda repressor-like DNA-binding domains,PatternScan_HOMEOBOX_1	p.Q1265*	ENST00000292535.7	37	c.3793	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	C	41	8.882154	0.98988	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	.	.	.	4.91	4.91	0.64330	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-14.4747	18.0899	0.89471	0.0:1.0:0.0:0.0	.	.	.	.	X	1276;1265;1243;1209;1163;1107	.	ENSP00000292535:Q1265X	Q	+	1	0	CUX1	101669490	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.696000	0.84270	2.267000	0.75376	0.655000	0.94253	CAA	-	HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like		0.592	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	protein_coding	OTTHUMT00000347535.1	C	NM_001913		101669490	+1	no_errors	NM_181552	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
PDCD11	22984	genome.wustl.edu	37	10	105202061	105202061	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr10:105202061G>A	ENST00000369797.3	+	32	4893	c.4799G>A	c.(4798-4800)cGg>cAg	p.R1600Q		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1600					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GATCCTGGGCGGCAGCCAGAG	0.557																																																0			10											95.0	95.0	95.0					10																	105202061		2203	4300	6503	105192051	SO:0001583	missense	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4799G>A	10.37:g.105202061G>A	ENSP00000358812:p.Arg1600Gln		105192051	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	superfamily_Nucleic_acid_OB,HMMSmart_S1,HMMPfam_S1,superfamily_SSF48452,HMMSmart_HAT	p.R1600Q	ENST00000369797.3	37	c.4799	CCDS31276.1	10	.	.	.	.	.	.	.	.	.	.	G	14.88	2.668574	0.47677	.	.	ENSG00000148843	ENST00000369797	T	0.35236	1.32	5.27	5.27	0.74061	.	0.265619	0.38058	N	0.001831	T	0.38374	0.1038	N	0.21373	0.66	0.24037	N	0.99609	D	0.71674	0.998	P	0.51016	0.656	T	0.27400	-1.0075	10	0.52906	T	0.07	-0.4849	19.2502	0.93921	0.0:0.0:1.0:0.0	.	1600	Q14690	RRP5_HUMAN	Q	1600	ENSP00000358812:R1600Q	ENSP00000358812:R1600Q	R	+	2	0	PDCD11	105192051	0.996000	0.38824	0.096000	0.21009	0.066000	0.16364	5.556000	0.67307	2.619000	0.88677	0.561000	0.74099	CGG	-	superfamily_SSF48452,HMMSmart_HAT		0.557	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	protein_coding	OTTHUMT00000050151.1	G			105192051	+1	no_errors	NM_014976	genbank	human	validated	54_36p	missense	SNP	0.949	A
FAM155A	728215	genome.wustl.edu	37	13	108518300	108518300	+	Silent	SNP	G	G	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr13:108518300G>C	ENST00000375915.2	-	1	783	c.645C>G	c.(643-645)ctC>ctG	p.L215L		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	215						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ACAAGTTCCAGAGCGGAGTGG	0.582																																																0			13											82.0	93.0	89.0					13																	108518300		2203	4300	6503	107316301	SO:0001819	synonymous_variant	728215			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.645C>G	13.37:g.108518300G>C			107316301	B2RUV1|B7Z334	Silent	SNP	NULL	p.L215	ENST00000375915.2	37	c.645	CCDS32006.1	13																																																																																			-	NULL		0.582	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155A	protein_coding	OTTHUMT00000045736.2	G	NM_001080396		107316301	-1	no_errors	NM_001080396	genbank	human	provisional	54_36p	silent	SNP	0.992	C
KIF12	113220	genome.wustl.edu	37	9	116854183	116854183	+	Silent	SNP	A	A	G	rs117751044	byFrequency	TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr9:116854183A>G	ENST00000374118.3	-	16	1737	c.1500T>C	c.(1498-1500)agT>agC	p.S500S	KIF12_ENST00000473174.1_5'Flank	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	633	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GTGCGCCCTCACTGCAGGGTG	0.652													A|||	56	0.0111821	0.0015	0.0202	5008	,	,		14225	0.0		0.0318	False		,,,				2504	0.0082															0			9						A		24,4382	26.2+/-53.5	0,24,2179	44.0	43.0	43.0		1500	-7.6	0.0	9	dbSNP_132	43	268,8332	100.1+/-161.6	3,262,4035	no	coding-synonymous	KIF12	NM_138424.1		3,286,6214	GG,GA,AA		3.1163,0.5447,2.2451		500/514	116854183	292,12714	2203	4300	6503	115894004	SO:0001819	synonymous_variant	113220			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.1500T>C	9.37:g.116854183A>G			115894004	Q5TBE0	Silent	SNP	HMMPfam_Kinesin,superfamily_SSF52540,HMMSmart_KISc,PatternScan_KINESIN_MOTOR_DOMAIN1	p.S500	ENST00000374118.3	37	c.1500	CCDS6801.1	9																																																																																			-	NULL		0.652	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF12	protein_coding	OTTHUMT00000053751.1	A	NM_138424		115894004	-1	no_errors	NM_138424	genbank	human	provisional	54_36p	silent	SNP	0.000	G
WDR66	144406	genome.wustl.edu	37	12	122359529	122359529	+	Silent	SNP	C	C	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr12:122359529C>A	ENST00000288912.4	+	2	1172	c.318C>A	c.(316-318)tcC>tcA	p.S106S	WDR66_ENST00000397454.2_Silent_p.S106S	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	106							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TCACAGCGTCCATGATCCGTT	0.428																																					Esophageal Squamous(85;849 1794 49757 52143)											0			12											118.0	117.0	117.0					12																	122359529		1974	4170	6144	120843912	SO:0001819	synonymous_variant	144406			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.318C>A	12.37:g.122359529C>A			120843912	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Silent	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,superfamily_EF-hand	p.S106	ENST00000288912.4	37	c.318	CCDS41853.1	12																																																																																			-	superfamily_WD40 repeat-like		0.428	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	protein_coding	OTTHUMT00000401700.1	C	NM_144668		120843912	+1	no_errors	NM_144668	genbank	human	validated	54_36p	silent	SNP	0.001	A
GRAMD1B	57476	genome.wustl.edu	37	11	123477358	123477358	+	Silent	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr11:123477358C>T	ENST00000529750.1	+	10	1263	c.936C>T	c.(934-936)gaC>gaT	p.D312D	GRAMD1B_ENST00000450171.2_5'Flank|GRAMD1B_ENST00000322282.7_Silent_p.D312D|GRAMD1B_ENST00000456860.2_Silent_p.D319D	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	312						integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TGGAGGGAGACGGGTCCCTGG	0.547																																																0			11											42.0	46.0	44.0					11																	123477358		1968	4141	6109	122982568	SO:0001819	synonymous_variant	57476			AB033027	CCDS53720.1, CCDS66253.1, CCDS66254.1	11q24.1	2005-11-02				ENSG00000023171			29214	protein-coding gene	gene with protein product						10574462	Standard	NM_001286564		Approved	KIAA1201	uc001pyx.2	Q3KR37		ENST00000529750.1:c.936C>T	11.37:g.123477358C>T			122982568	Q6UW85|Q9ULL9	Silent	SNP	HMMPfam_GRAM,HMMSmart_SM00568	p.D312	ENST00000529750.1	37	c.936	CCDS53720.1	11																																																																																			-	NULL		0.547	GRAMD1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRAMD1B	protein_coding	OTTHUMT00000387404.2	C	XM_370660		122982568	+1	no_errors	NM_020716	genbank	human	validated	54_36p	silent	SNP	0.938	T
ROPN1	54763	genome.wustl.edu	37	3	123695816	123695816	+	Silent	SNP	G	G	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr3:123695816G>C	ENST00000184183.4	-	4	469	c.129C>G	c.(127-129)gcC>gcG	p.A43A	ROPN1_ENST00000405845.3_Silent_p.A43A	NM_017578.2	NP_060048.2	Q9HAT0	ROP1A_HUMAN	rhophilin associated tail protein 1	43	RIIa.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)|ovary(1)|skin(1)	4				GBM - Glioblastoma multiforme(114;0.148)		CACGGGACAGGGCCTCAAAAT	0.517																																																0			3											40.0	46.0	44.0					3																	123695816		2203	4296	6499	125178506	SO:0001819	synonymous_variant	54763			AF231410	CCDS3026.1	3q21.1	2011-01-20	2011-01-20			ENSG00000065371			17692	protein-coding gene	gene with protein product	"""cancer/testis antigen 91"""	611757	"""ropporin, rhophilin associated protein 1"""			10591629	Standard	NM_017578		Approved	ODF6, ropporin, ROPN1A, CT91	uc003eha.3	Q9HAT0		ENST00000184183.4:c.129C>G	3.37:g.123695816G>C			125178506	D3DN99|Q9UF38	Silent	SNP	superfamily_Dimerization-anchoring domain of cAMP-dependent type II PK regulatory subunit,HMMPfam_RIIa	p.A43	ENST00000184183.4	37	c.129	CCDS3026.1	3																																																																																			-	superfamily_Dimerization-anchoring domain of cAMP-dependent type II PK regulatory subunit,HMMPfam_RIIa		0.517	ROPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROPN1	protein_coding	OTTHUMT00000356188.2	G	NM_017578		125178506	-1	no_errors	NM_017578	genbank	human	provisional	54_36p	silent	SNP	0.998	C
DCAF12L1	139170	genome.wustl.edu	37	X	125685995	125685995	+	Silent	SNP	G	G	T	rs369328900		TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chrX:125685995G>T	ENST00000371126.1	-	1	839	c.597C>A	c.(595-597)gcC>gcA	p.A199A		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	199										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GCCAGGCGACGGCGAAGATCC	0.667																																																0			X						G		0,3835		0,0,1632,571	35.0	37.0	36.0		597	1.2	0.1	X		36	1,6724		0,1,2426,1871	no	coding-synonymous	DCAF12L1	NM_178470.4		0,1,4058,2442	TT,TG,GG,G		0.0149,0.0,0.0095		199/464	125685995	1,10559	2203	4298	6501	125513676	SO:0001819	synonymous_variant	139170			BC035674	CCDS14610.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198889	ENSG00000198889		"""WD repeat domain containing"""	29395	protein-coding gene	gene with protein product			"""WD repeat domain 40B"""	WDR40B		12477932	Standard	NM_178470		Approved	KIAA1892L	uc004eul.3	Q5VU92	OTTHUMG00000022353	ENST00000371126.1:c.597C>A	X.37:g.125685995G>T			125513676	Q8IYK3	Silent	SNP	PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40	p.A199	ENST00000371126.1	37	c.597	CCDS14610.1	X																																																																																			-	superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40		0.667	DCAF12L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR40B	protein_coding	OTTHUMT00000058186.1	G	NM_178470		125513676	-1	no_errors	NM_178470	genbank	human	reviewed	54_36p	silent	SNP	0.925	T
RNF146	81847	genome.wustl.edu	37	6	127608348	127608348	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr6:127608348C>T	ENST00000368314.1	+	3	1014	c.590C>T	c.(589-591)tCt>tTt	p.S197F	RNF146_ENST00000608991.1_Missense_Mutation_p.S196F|RNF146_ENST00000610153.1_Missense_Mutation_p.S197F|RNF146_ENST00000309649.3_Missense_Mutation_p.S196F|RNF146_ENST00000356799.2_3'UTR|ECHDC1_ENST00000488087.1_5'Flank	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	197					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		AGAGAGAGCTCTGCTGACGGA	0.463																																																0			6											106.0	105.0	105.0					6																	127608348		2203	4300	6503	127650041	SO:0001583	missense	81847			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.590C>T	6.37:g.127608348C>T	ENSP00000357297:p.Ser197Phe		127650041	E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_WWE,HMMSmart_WWE	p.S196F	ENST00000368314.1	37	c.587	CCDS56449.1	6	.	.	.	.	.	.	.	.	.	.	C	19.01	3.744090	0.69418	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.26518	1.73;1.73;1.73	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.35393	0.0930	L	0.59436	1.845	0.54753	D	0.999986	D	0.60160	0.987	P	0.54460	0.753	T	0.06643	-1.0815	10	0.87932	D	0	-13.6937	20.3967	0.98985	0.0:1.0:0.0:0.0	.	197	Q9NTX7	RN146_HUMAN	F	197;196;196	ENSP00000357297:S197F;ENSP00000349253:S196F;ENSP00000309365:S196F	ENSP00000309365:S196F	S	+	2	0	RNF146	127650041	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.763000	0.68818	2.829000	0.97493	0.655000	0.94253	TCT	-	NULL		0.463	RNF146-001	KNOWN	basic|CCDS	protein_coding	RNF146	protein_coding	OTTHUMT00000042112.1	C	NM_030963		127650041	+1	no_errors	NM_030963	genbank	human	provisional	54_36p	missense	SNP	1.000	T
KRT18P44	139748	genome.wustl.edu	37	X	127849020	127849020	+	IGR	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chrX:127849020C>T								RP1-30E17.2 (114574 upstream) : RNA5SP513 (721486 downstream)																							CTGTGGAGAGCGACATCCATG	0.517																																																0			X																																								127676701	SO:0001628	intergenic_variant	139748																															X.37:g.127849020C>T			127676701		Silent	SNP	HMMPfam_Filament	p.S334		37	c.1002		X																																																																																			-	HMMPfam_Filament	0	0.517					KRT18P44			C			127676701	+1	pseudogene	XM_001719134	genbank	human	model	54_36p	silent	SNP	1.000	T
BCORL1	63035	genome.wustl.edu	37	X	129148636	129148636	+	Missense_Mutation	SNP	C	C	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chrX:129148636C>T	ENST00000218147.7	+	4	2085	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	BCORL1_ENST00000359304.2_Missense_Mutation_p.R630C|BCORL1_ENST00000303743.5_Missense_Mutation_p.R630C|BCORL1_ENST00000540052.1_Missense_Mutation_p.R630C			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	630	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAAGTCCAACCGCCAGAAGCT	0.597																																																0			X											93.0	76.0	82.0					X																	129148636		2203	4300	6503	128976317	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1888C>T	X.37:g.129148636C>T	ENSP00000218147:p.Arg630Cys		128976317	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank	p.R630C	ENST00000218147.7	37	c.1888	CCDS14616.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.29|19.29	3.799833|3.799833	0.70567|0.70567	.|.	.|.	ENSG00000085185|ENSG00000085185	ENST00000441294|ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052;ENST00000456822	.|T;T;T;T;T	.|0.71698	.|-0.52;-0.07;-0.59;-0.52;0.0	5.38|5.38	5.38|5.38	0.77491|0.77491	.|.	.|0.000000	.|0.36628	.|N	.|0.002490	T|T	0.78717|0.78717	0.4327|0.4327	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.996	T|T	0.81395|0.81395	-0.0952|-0.0952	5|10	.|0.87932	.|D	.|0	-11.7754|-11.7754	18.3045|18.3045	0.90176|0.90176	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|630;630	.|Q5H9F3-2;Q5H9F3	.|.;BCORL_HUMAN	L|C	65|630;630;630;630;230	.|ENSP00000218147:R630C;ENSP00000307541:R630C;ENSP00000352253:R630C;ENSP00000437775:R630C;ENSP00000399483:R230C	.|ENSP00000218147:R630C	P|R	+|+	2|1	0|0	BCORL1|BCORL1	128976317|128976317	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	5.041000|5.041000	0.64196|0.64196	2.262000|2.262000	0.75019|0.75019	0.436000|0.436000	0.28706|0.28706	CCG|CGC	-	NULL		0.597	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	protein_coding	OTTHUMT00000058223.1	C	NM_021946		128976317	+1	no_errors	NM_021946	genbank	human	validated	54_36p	missense	SNP	1.000	T
ASB6	140459	genome.wustl.edu	37	9	132400169	132400169	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr9:132400169G>A	ENST00000277458.4	-	6	1331	c.1166C>T	c.(1165-1167)cCg>cTg	p.P389L	RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000450050.2_Missense_Mutation_p.P310L|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	389	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CACAGGCCACGGCTGAAGGTA	0.602																																																0			9											56.0	56.0	56.0					9																	132400169		2203	4300	6503	131439990	SO:0001583	missense	140459				CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.1166C>T	9.37:g.132400169G>A	ENSP00000277458:p.Pro389Leu		131439990	Q5SZB7|Q9BV15	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMSmart_SM00253,HMMPfam_SOCS_box	p.P389L	ENST00000277458.4	37	c.1166	CCDS6924.1	9	.	.	.	.	.	.	.	.	.	.	G	26.9	4.781252	0.90282	.	.	ENSG00000148331	ENST00000277458;ENST00000450050	T;T	0.40476	1.03;1.03	5.06	5.06	0.68205	SOCS protein, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	L	0.56769	1.78	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.63576	-0.6606	10	0.62326	D	0.03	-47.5427	17.5884	0.87989	0.0:0.0:1.0:0.0	.	310;389;389	B4DRC4;A8K9U2;Q9NWX5	.;.;ASB6_HUMAN	L	389;310	ENSP00000277458:P389L;ENSP00000416172:P310L	ENSP00000277458:P389L	P	-	2	0	ASB6	131439990	1.000000	0.71417	0.989000	0.46669	0.987000	0.75469	8.706000	0.91362	2.635000	0.89317	0.462000	0.41574	CCG	-	HMMSmart_SM00253,HMMPfam_SOCS_box		0.602	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB6	protein_coding	OTTHUMT00000054594.1	G	NM_017873		131439990	-1	no_errors	NM_017873	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
GPR112	139378	genome.wustl.edu	37	X	135431845	135431845	+	Missense_Mutation	SNP	G	G	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chrX:135431845G>A	ENST00000394143.1	+	6	6271	c.5980G>A	c.(5980-5982)Ggt>Agt	p.G1994S	GPR112_ENST00000287534.4_Missense_Mutation_p.G1931S|GPR112_ENST00000370652.1_Missense_Mutation_p.G1994S|GPR112_ENST00000394141.1_Missense_Mutation_p.G1789S|GPR112_ENST00000412101.1_Missense_Mutation_p.G1789S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1994					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AATTCTTTCTGGTGCCACTTC	0.463																																																0			X											100.0	91.0	94.0					X																	135431845		2203	4299	6502	135259511	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.5980G>A	X.37:g.135431845G>A	ENSP00000377699:p.Gly1994Ser		135259511	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	superfamily_ConA_like_lec_gl,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2	p.G1994S	ENST00000394143.1	37	c.5980	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	g	0.543	-0.852839	0.02630	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.28666	1.63;1.63;1.6;1.74;1.6	2.88	1.98	0.26296	.	.	.	.	.	T	0.16854	0.0405	N	0.24115	0.695	0.09310	N	1	B;B;B	0.25312	0.092;0.123;0.075	B;B;B	0.24269	0.052;0.023;0.01	T	0.32188	-0.9916	9	0.12766	T	0.61	.	6.3967	0.21616	0.1618:0.0:0.8382:0.0	.	1931;1789;1994	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	S	1994;1994;1789;1931;1789	ENSP00000377699:G1994S;ENSP00000359686:G1994S;ENSP00000416526:G1789S;ENSP00000287534:G1931S;ENSP00000377697:G1789S	ENSP00000287534:G1931S	G	+	1	0	GPR112	135259511	0.816000	0.29132	0.039000	0.18376	0.126000	0.20510	0.650000	0.24858	0.391000	0.25143	0.530000	0.56133	GGT	-	NULL		0.463	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	protein_coding	OTTHUMT00000286639.1	G			135259511	+1	no_errors	NM_153834	genbank	human	validated	54_36p	missense	SNP	0.030	A
SERAC1	84947	genome.wustl.edu	37	6	158538832	158538832	+	Missense_Mutation	SNP	G	G	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr6:158538832G>C	ENST00000367104.3	-	13	1461	c.1330C>G	c.(1330-1332)Cct>Gct	p.P444A	SERAC1_ENST00000367101.1_Missense_Mutation_p.P444A|SERAC1_ENST00000367102.2_Missense_Mutation_p.P444A	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	444					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CGGAGAGCAGGACAGTCTTTT	0.413																																																0			6											103.0	97.0	99.0					6																	158538832		2203	4300	6503	158458820	SO:0001583	missense	84947			BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.1330C>G	6.37:g.158538832G>C	ENSP00000356071:p.Pro444Ala		158458820	Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	superfamily_ARM repeat,superfamily_alpha/beta-Hydrolases	p.P444A	ENST00000367104.3	37	c.1330	CCDS5255.1	6	.	.	.	.	.	.	.	.	.	.	.	29.6	5.023396	0.93462	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000435180;ENST00000367101	D;D;D;D	0.93811	-2.38;-3.29;-3.29;-2.38	5.7	5.7	0.88788	.	0.046101	0.85682	N	0.000000	D	0.96361	0.8813	M	0.82193	2.58	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	D	0.93219	0.6607	10	0.66056	D	0.02	-24.4417	19.8411	0.96685	0.0:0.0:1.0:0.0	.	444	Q96JX3	SRAC1_HUMAN	A	444;444;19;444	ENSP00000356069:P444A;ENSP00000356071:P444A;ENSP00000391168:P19A;ENSP00000356068:P444A	ENSP00000356068:P444A	P	-	1	0	SERAC1	158458820	1.000000	0.71417	0.970000	0.41538	0.995000	0.86356	9.224000	0.95209	-0.633000	0.05545	-0.250000	0.11733	CCT	-	superfamily_alpha/beta-Hydrolases		0.413	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERAC1	protein_coding	OTTHUMT00000042862.1	G	NM_032861		158458820	-1	no_errors	NM_032861	genbank	human	provisional	54_36p	missense	SNP	1.000	C
EZR	7430	genome.wustl.edu	37	6	159188344	159188344	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr6:159188344C>G	ENST00000367075.3	-	13	1713	c.1545G>C	c.(1543-1545)gaG>gaC	p.E515D	MIR3918_ENST00000581555.1_RNA|EZR_ENST00000392177.4_Missense_Mutation_p.E483D|EZR_ENST00000337147.7_Missense_Mutation_p.E515D	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	515	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TGATGCGCTTCTCCTCATTGC	0.632			T	ROS1	NSCLC																																		Dom	yes		6	6q25.3	7430	ezrin		E	0			6											79.0	75.0	77.0					6																	159188344		2203	4300	6503	159108332	SO:0001583	missense	7430			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1545G>C	6.37:g.159188344C>G	ENSP00000356042:p.Glu515Asp		159108332	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	HMMSmart_B41,superfamily_SSF54236,HMMPfam_FERM_N,PatternScan_FERM_1,superfamily_FERM_3-hlx,HMMPfam_FERM_M,PatternScan_FERM_2,superfamily_SSF50729,HMMPfam_FERM_C,HMMPfam_ERM,superfamily_Moesin	p.E515D	ENST00000367075.3	37	c.1545	CCDS5258.1	6	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204182	0.58234	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.84944	-1.92;-1.92;-1.92	5.75	4.87	0.63330	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.045024	0.85682	D	0.000000	D	0.86360	0.5914	M	0.85859	2.78	0.58432	D	0.999997	B;B	0.33739	0.078;0.422	B;B	0.41666	0.192;0.363	D	0.88501	0.3082	10	0.87932	D	0	.	15.0512	0.71872	0.0:0.9311:0.0:0.0689	.	483;515	E7EQR4;P15311	.;EZRI_HUMAN	D	515;515;483	ENSP00000338934:E515D;ENSP00000356042:E515D;ENSP00000376016:E483D	ENSP00000338934:E515D	E	-	3	2	EZR	159108332	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.104000	0.50306	2.714000	0.92807	0.561000	0.74099	GAG	-	HMMPfam_ERM,superfamily_Moesin		0.632	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EZR	protein_coding	OTTHUMT00000042878.1	C	NM_003379		159108332	-1	no_errors	NM_003379	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
F5	2153	genome.wustl.edu	37	1	169511850	169511850	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr1:169511850C>G	ENST00000367797.3	-	13	2679	c.2478G>C	c.(2476-2478)gaG>gaC	p.E826D	F5_ENST00000367796.3_Missense_Mutation_p.E831D	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	826	B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GGCTGGAATGCTCTGCTGTGG	0.488																																																0			1											169.0	166.0	167.0					1																	169511850		2203	4300	6503	167778474	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.2478G>C	1.37:g.169511850C>G	ENSP00000356771:p.Glu826Asp		167778474	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	superfamily_Cupredoxins,HMMPfam_Cu-oxidase_3,PatternScan_MULTICOPPER_OXIDASE1,HMMPfam_LSPR,superfamily_Galactose-binding domain-like,HMMSmart_SM00231,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2	p.E826D	ENST00000367797.3	37	c.2478	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277713	0.40294	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.24538	1.85;1.85	5.97	0.701	0.18104	.	0.890844	0.09747	N	0.761179	T	0.06371	0.0164	L	0.39898	1.24	0.20403	N	0.999908	P	0.47106	0.89	B	0.38378	0.272	T	0.25641	-1.0126	9	0.33141	T	0.24	-4.8519	4.8247	0.13410	0.1399:0.5487:0.0:0.3114	.	826	P12259	FA5_HUMAN	D	826;831	ENSP00000356771:E826D;ENSP00000356770:E831D	ENSP00000356770:E831D	E	-	3	2	F5	167778474	0.000000	0.05858	0.003000	0.11579	0.113000	0.19764	-0.789000	0.04609	-0.114000	0.11936	-0.966000	0.02617	GAG	-	NULL		0.488	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	C	NM_000130		167778474	-1	no_errors	NM_000130	genbank	human	reviewed	54_36p	missense	SNP	0.001	G
THBS2	7058	genome.wustl.edu	37	6	169623463	169623463	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr6:169623463T>C	ENST00000366787.3	-	19	3130	c.2881A>G	c.(2881-2883)Aac>Gac	p.N961D	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	961	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ATCTGGAAGTTCCTGAAGTCT	0.468																																					Esophageal Squamous(91;219 1934 18562 44706)											0			6											138.0	116.0	124.0					6																	169623463		2203	4300	6503	169365388	SO:0001583	missense	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.2881A>G	6.37:g.169623463T>C	ENSP00000355751:p.Asn961Asp		169365388	A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	PatternScan_EGF_1,HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF_CA,HMMPfam_EGF,PatternScan_EGF_2,superfamily_SSF103647,HMMPfam_TSP_3,HMMPfam_TSP_C	p.N961D	ENST00000366787.3	37	c.2881	CCDS34574.1	6	.	.	.	.	.	.	.	.	.	.	T	15.82	2.945282	0.53079	.	.	ENSG00000186340	ENST00000366787;ENST00000392099	D	0.90676	-2.71	4.73	4.73	0.59995	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (1);	0.161948	0.28521	U	0.015052	T	0.72269	0.3439	N	0.12182	0.205	0.42899	D	0.994222	B	0.28324	0.207	B	0.31495	0.131	T	0.70963	-0.4729	10	0.16420	T	0.52	-62.7058	14.2292	0.65879	0.0:0.0:0.0:1.0	.	961	P35442	TSP2_HUMAN	D	961;219	ENSP00000355751:N961D	ENSP00000355751:N961D	N	-	1	0	THBS2	169365388	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.478000	0.81082	1.747000	0.51819	0.386000	0.25728	AAC	-	superfamily_ConA_like_lec_gl		0.468	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS2	protein_coding	OTTHUMT00000105439.1	T	NM_003247		169365388	-1	no_errors	NM_003247	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
TNIK	23043	genome.wustl.edu	37	3	170805169	170805169	+	Missense_Mutation	SNP	C	C	T	rs201681163		TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr3:170805169C>T	ENST00000436636.2	-	24	3192	c.2848G>A	c.(2848-2850)Gtc>Atc	p.V950I	TNIK_ENST00000460047.1_Missense_Mutation_p.V887I|TNIK_ENST00000488470.1_Missense_Mutation_p.V895I|TNIK_ENST00000284483.8_Missense_Mutation_p.V942I|TNIK_ENST00000470834.1_Missense_Mutation_p.V913I|TNIK_ENST00000538048.1_Missense_Mutation_p.V902I|TNIK_ENST00000369326.5_Missense_Mutation_p.V928I|TNIK_ENST00000475336.1_Missense_Mutation_p.V858I|TNIK_ENST00000357327.5_Missense_Mutation_p.V921I|TNIK_ENST00000341852.6_Missense_Mutation_p.V866I	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	950	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TGGGTTGAGACGCGCCCCAGT	0.572																																																0			3											75.0	78.0	77.0					3																	170805169		2013	4181	6194	172287863	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.2848G>A	3.37:g.170805169C>T	ENSP00000399511:p.Val950Ile		172287863	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00036,HMMPfam_CNH	p.V950I	ENST00000436636.2	37	c.2848	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162146	0.38217	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.65;-0.64;-0.66;-0.66;-0.66;-0.66;-0.66;-0.65;-0.66	5.93	4.16	0.48862	.	0.474184	0.20697	N	0.087341	T	0.54854	0.1884	N	0.22421	0.69	0.33475	D	0.586747	B;P;B;B;P;P;B;P	0.44195	0.001;0.828;0.001;0.001;0.828;0.828;0.001;0.736	B;B;B;B;B;B;B;B	0.41440	0.003;0.357;0.003;0.003;0.357;0.357;0.003;0.195	T	0.58983	-0.7539	10	0.11182	T	0.66	.	12.3977	0.55395	0.0:0.8654:0.0:0.1346	.	858;913;887;866;942;921;895;950	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	I	950;928;902;866;942;858;921;887;895;913	ENSP00000399511:V950I;ENSP00000358332:V928I;ENSP00000443278:V902I;ENSP00000345352:V866I;ENSP00000284483:V942I;ENSP00000418156:V858I;ENSP00000349880:V921I;ENSP00000418916:V887I;ENSP00000418378:V895I;ENSP00000419990:V913I	ENSP00000284483:V942I	V	-	1	0	TNIK	172287863	0.999000	0.42202	0.449000	0.26957	0.753000	0.42808	3.411000	0.52672	0.863000	0.35553	0.655000	0.94253	GTC	-	NULL		0.572	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	protein_coding	OTTHUMT00000352973.2	C	XM_039796		172287863	-1	no_errors	NM_015028	genbank	human	provisional	54_36p	missense	SNP	0.886	T
TTN	7273	genome.wustl.edu	37	2	179647128	179647128	+	Missense_Mutation	SNP	A	A	T			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr2:179647128A>T	ENST00000591111.1	-	20	3415	c.3191T>A	c.(3190-3192)aTg>aAg	p.M1064K	TTN_ENST00000342175.6_Missense_Mutation_p.M1018K|TTN_ENST00000589042.1_Missense_Mutation_p.M1064K|TTN_ENST00000359218.5_Missense_Mutation_p.M1018K|TTN_ENST00000342992.6_Missense_Mutation_p.M1064K|TTN_ENST00000360870.5_Missense_Mutation_p.M1064K|TTN_ENST00000460472.2_Missense_Mutation_p.M1018K|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	32606					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTATCAGTCATAACCACATC	0.478																																																0			2											48.0	52.0	51.0					2																	179647128		2203	4300	6503	179355373	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3191T>A	2.37:g.179647128A>T	ENSP00000465570:p.Met1064Lys		179355373	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS	p.M1064K	ENST00000591111.1	37	c.3191		2	.	.	.	.	.	.	.	.	.	.	A	14.61	2.587549	0.46110	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.62639	0.01;0.23;0.23;0.21;0.38	5.6	5.6	0.85130	Ribonuclease H-like (1);	.	.	.	.	T	0.57902	0.2085	L	0.29908	0.895	0.33127	D	0.542586	P;P;P;D;P	0.54601	0.828;0.828;0.828;0.967;0.731	B;B;B;P;B	0.47206	0.3;0.3;0.3;0.541;0.326	T	0.71185	-0.4667	9	0.87932	D	0	.	14.6521	0.68805	1.0:0.0:0.0:0.0	.	1018;1018;1018;1064;1064	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	1064;1018;1018;1018;1018;1064	ENSP00000343764:M1064K;ENSP00000434586:M1018K;ENSP00000340554:M1018K;ENSP00000352154:M1018K;ENSP00000354117:M1064K	ENSP00000340554:M1018K	M	-	2	0	TTN	179355373	1.000000	0.71417	0.982000	0.44146	0.899000	0.52679	6.021000	0.70832	2.266000	0.75297	0.528000	0.53228	ATG	-	NULL		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179355373	-1	no_errors	NM_133379	genbank	human	reviewed	54_36p	missense	SNP	0.957	T
Unknown	0	genome.wustl.edu	37	2	188690126	188690126	+	IGR	SNP	C	C	T	rs192775538	byFrequency	TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr2:188690126C>T								AC068718.2 (82725 upstream) : AC068718.1 (402420 downstream)																							AAGCAGGATCCGAGCGTTCTG	0.552													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		18218	0.0		0.0	False		,,,				2504	0.0															0			2																																								188398371	SO:0001628	intergenic_variant	344328																															2.37:g.188690126C>T			188398371		RNA	SNP	-	NULL		37	NULL		2																																																																																			-	-	0	0.552					LOC344328			C			188398371	+1	pseudogene	XR_017370	genbank	human	model	54_36p	rna	SNP	0.910	T
MUC4	4585	genome.wustl.edu	37	3	195512212	195512212	+	Missense_Mutation	SNP	G	G	T	rs75588776	byFrequency	TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr3:195512212G>T	ENST00000463781.3	-	2	6698	c.6239C>A	c.(6238-6240)cCt>cAt	p.P2080H	MUC4_ENST00000475231.1_Missense_Mutation_p.P2080H|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.P2080H(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACAAGAAGAGGGGTGGCGTG	0.567																																																2	Substitution - Missense(2)	stomach(2)	3											18.0	20.0	19.0					3																	195512212		684	1571	2255	196996607	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6239C>A	3.37:g.195512212G>T	ENSP00000417498:p.Pro2080His		196996607	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	HMMSmart_SM00539,HMMPfam_NIDO,PatternScan_SUGAR_TRANSPORT_2,HMMSmart_SM00723,HMMPfam_AMOP,HMMSmart_SM00216,HMMPfam_VWD,PatternScan_EGF_1,HMMSmart_SM00181,superfamily_EGF/Laminin	p.P2080H	ENST00000463781.3	37	c.6239	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	G	3.566	-0.088623	0.07097	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32988	1.43;1.45	.	.	.	.	.	.	.	.	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	B	0.22909	0.077	B	0.06405	0.002	T	0.28744	-1.0034	7	.	.	.	.	2.8356	0.05513	3.0E-4:2.0E-4:0.5012:0.4983	.	2080	E7ESK3	.	H	2080	ENSP00000417498:P2080H;ENSP00000420243:P2080H	.	P	-	2	0	MUC4	196996607	0.000000	0.05858	0.053000	0.19242	0.070000	0.16714	0.024000	0.13555	0.064000	0.16427	0.064000	0.15345	CCT	-	NULL		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	protein_coding	OTTHUMT00000324081.6	G	NM_018406		196996607	-1	no_errors	ENST00000405167	ensembl	human	known	54_36p	missense	SNP	0.041	T
GTF2IP20	441124	genome.wustl.edu	37	1	224137239	224137239	+	lincRNA	SNP	A	A	G	rs150262916		TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr1:224137239A>G	ENST00000608760.1	-	0	4092																											ACCACGCCCAAATGCAAGATG	0.592																																																0			1																																								222203862			730978																															1.37:g.224137239A>G			222203862		RNA	SNP	-	NULL	ENST00000608760.1	37	NULL		1																																																																																			-	-		0.592	RP11-504P24.8-001	KNOWN	basic	lincRNA	LOC730978	lincRNA	OTTHUMT00000471643.1	A			222203862	+1	pseudogene	XR_037258	genbank	human	model	54_36p	rna	SNP	0.999	G
PARP1	142	genome.wustl.edu	37	1	226551747	226551747	+	Missense_Mutation	SNP	T	T	C			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr1:226551747T>C	ENST00000366794.5	-	20	2826	c.2683A>G	c.(2683-2685)Atc>Gtc	p.I895V	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	895	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCGAAATAGATCCCTTTACCA	0.483								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																								0			1											123.0	113.0	117.0					1																	226551747		2203	4300	6503	224618370	SO:0001583	missense	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.2683A>G	1.37:g.226551747T>C	ENSP00000355759:p.Ile895Val		224618370	B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	superfamily_Glucocorticoid receptor-like (DNA-binding domain),HMMPfam_zf-PARP,PatternScan_PARP_ZN_FINGER_1,HMMPfam_PADR1,superfamily_BRCT domain,HMMPfam_BRCT,HMMSmart_SM00292,HMMPfam_WGR,HMMSmart_SM00773,HMMPfam_PARP_reg,superfamily_Domain of poly(ADP-ribose) polymerase,HMMPfam_PARP,superfamily_ADP-ribosylation	p.I895V	ENST00000366794.5	37	c.2683	CCDS1554.1	1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.008317	0.54361	.	.	ENSG00000143799	ENST00000366794	T	0.13901	2.55	6.17	6.17	0.99709	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.045054	0.85682	D	0.000000	T	0.14184	0.0343	N	0.20357	0.565	0.80722	D	1	B	0.20550	0.046	B	0.35278	0.199	T	0.19257	-1.0311	10	0.32370	T	0.25	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	895	P09874	PARP1_HUMAN	V	895	ENSP00000355759:I895V	ENSP00000355759:I895V	I	-	1	0	PARP1	224618370	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.017000	0.49615	2.371000	0.80710	0.533000	0.62120	ATC	-	HMMPfam_PARP,superfamily_ADP-ribosylation		0.483	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP1	protein_coding	OTTHUMT00000091519.1	T	NM_001618		224618370	-1	no_errors	NM_001618	genbank	human	reviewed	54_36p	missense	SNP	0.998	C
OBSCN	84033	genome.wustl.edu	37	1	228447387	228447387	+	Intron	SNP	C	C	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr1:228447387C>G	ENST00000422127.1	+	15	4629				OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000359599.6_Missense_Mutation_p.L155V|OBSCN_ENST00000570156.2_Missense_Mutation_p.L1683V|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000366709.4_Intron	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TACACGGAGGCTGGTGGTGCA	0.622																																																0			1											103.0	99.0	100.0					1																	228447387		876	1991	2867	226514010	SO:0001627	intron_variant	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4585+2760C>G	1.37:g.228447387C>G			226514010	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_ig,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3	p.L1591V	ENST00000422127.1	37	c.4771	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	.	18.43	3.622678	0.66787	.	.	ENSG00000154358	ENST00000359599	T	0.23950	1.88	5.25	4.34	0.51931	.	.	.	.	.	T	0.42404	0.1201	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34875	-0.9811	6	0.56958	D	0.05	.	13.6508	0.62310	0.0:0.9251:0.0:0.0749	.	.	.	.	V	155	ENSP00000352613:L155V	ENSP00000352613:L155V	L	+	1	2	OBSCN	226514010	1.000000	0.71417	0.976000	0.42696	0.605000	0.37080	3.332000	0.52083	1.217000	0.43442	0.655000	0.94253	CTG	-	superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig		0.622	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		C	NM_052843		226514010	+1	no_stop_codon	ENST00000359599	ensembl	human	known	54_36p	missense	SNP	1.000	G
CHRM3	1131	genome.wustl.edu	37	1	240071260	240071260	+	Missense_Mutation	SNP	T	T	A			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr1:240071260T>A	ENST00000255380.4	+	5	1288	c.509T>A	c.(508-510)aTc>aAc	p.I170N		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	170					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TACTTTTCCATCACGAGGCCG	0.527																																																0			1											118.0	120.0	119.0					1																	240071260		2203	4300	6503	238137883	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.509T>A	1.37:g.240071260T>A	ENSP00000255380:p.Ile170Asn		238137883	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.I170N	ENST00000255380.4	37	c.509	CCDS1616.1	1	.	.	.	.	.	.	.	.	.	.	T	21.5	4.152528	0.78001	.	.	ENSG00000133019	ENST00000255380	D	0.82167	-1.58	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.165060	0.52532	D	0.000066	D	0.93615	0.7961	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.95195	0.8311	10	0.87932	D	0	-30.4869	16.3322	0.83039	0.0:0.0:0.0:1.0	.	170	P20309	ACM3_HUMAN	N	170	ENSP00000255380:I170N	ENSP00000255380:I170N	I	+	2	0	CHRM3	238137883	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.251000	0.74343	0.528000	0.53228	ATC	-	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1		0.527	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	protein_coding	OTTHUMT00000095644.2	T	NM_000740		238137883	+1	no_errors	NM_000740	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
WDR64	128025	genome.wustl.edu	37	1	241904878	241904878	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr1:241904878C>G	ENST00000366552.2	+	11	1559	c.1352C>G	c.(1351-1353)cCt>cGt	p.P451R	WDR64_ENST00000437684.2_Missense_Mutation_p.P451R	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	451										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			AAACAGGTTCCTCACACTCAT	0.343																																																0			1											141.0	129.0	133.0					1																	241904878		2203	4300	6503	239971501	SO:0001583	missense	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.1352C>G	1.37:g.241904878C>G	ENSP00000355510:p.Pro451Arg		239971501	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40	p.P171R	ENST00000366552.2	37	c.512		1	.	.	.	.	.	.	.	.	.	.	C	19.60	3.858726	0.71834	.	.	ENSG00000162843	ENST00000366552;ENST00000437684;ENST00000414635	T;T;T	0.42513	1.01;0.97;1.01	5.49	5.49	0.81192	.	0.103230	0.42964	D	0.000631	T	0.59932	0.2230	L	0.57536	1.79	0.41720	D	0.989506	D	0.89917	1.0	D	0.85130	0.997	T	0.53676	-0.8405	10	0.25106	T	0.35	-11.284	16.2874	0.82727	0.0:1.0:0.0:0.0	.	171	D1MPS4	.	R	451;451;222	ENSP00000355510:P451R;ENSP00000402446:P451R;ENSP00000406656:P222R	ENSP00000355510:P451R	P	+	2	0	WDR64	239971501	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.670000	0.61583	2.584000	0.87258	0.655000	0.94253	CCT	-	superfamily_WD40 repeat-like,HMMSmart_SM00320		0.343	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	protein_coding		C	NM_144625		239971501	+1	no_errors	NM_144625	genbank	human	validated	54_36p	missense	SNP	1.000	G
ANKMY1	51281	genome.wustl.edu	37	2	241448853	241448853	+	Missense_Mutation	SNP	C	C	T	rs570625017		TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr2:241448853C>T	ENST00000272972.3	-	11	2253	c.2039G>A	c.(2038-2040)cGg>cAg	p.R680Q	ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.R680Q|ANKMY1_ENST00000401804.1_Missense_Mutation_p.R769Q|ANKMY1_ENST00000373320.4_Missense_Mutation_p.R450Q|ANKMY1_ENST00000406958.1_Missense_Mutation_p.R441Q	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	680							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TAGAAGGAGCCGGACTATGTC	0.547																																																0			2											57.0	53.0	55.0					2																	241448853		2203	4300	6503	241097526	SO:0001583	missense	51281			AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.2039G>A	2.37:g.241448853C>T	ENSP00000272972:p.Arg680Gln		241097526	B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	HMMSmart_SM00698,HMMPfam_MORN,superfamily_Histone H3 K4-specific methyltransferase SET7/9 N-terminal domain,PatternScan_WW_DOMAIN_1,superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1	p.R680Q	ENST00000272972.3	37	c.2039	CCDS2536.1	2	.	.	.	.	.	.	.	.	.	.	c	4.292	0.053333	0.08291	.	.	ENSG00000144504	ENST00000406958;ENST00000272972;ENST00000391987;ENST00000373320;ENST00000401804	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	3.74	-0.929	0.10444	Ankyrin repeat-containing domain (4);	0.699166	0.13274	N	0.400275	T	0.40694	0.1127	N	0.25957	0.775	0.09310	N	1	B;P;B	0.42456	0.084;0.78;0.084	B;B;B	0.32393	0.012;0.145;0.012	T	0.13415	-1.0510	10	0.54805	T	0.06	-7.0879	9.4485	0.38712	0.0:0.6763:0.0:0.3237	.	680;441;680	Q4ZFV3;B5MBY4;Q9P2S6	.;.;ANKY1_HUMAN	Q	441;680;680;450;769	ENSP00000384555:R441Q;ENSP00000272972:R680Q;ENSP00000375847:R680Q;ENSP00000362417:R450Q;ENSP00000385887:R769Q	ENSP00000272972:R680Q	R	-	2	0	ANKMY1	241097526	0.153000	0.22777	0.166000	0.22797	0.267000	0.26476	-0.531000	0.06171	-0.980000	0.03524	-0.771000	0.03389	CGG	-	superfamily_Ankyrin repeat,HMMPfam_Ank,HMMSmart_SM00248		0.547	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKMY1	protein_coding	OTTHUMT00000257187.2	C	NM_017844		241097526	-1	no_errors	NM_016552	genbank	human	validated	54_36p	missense	SNP	0.429	T
AHCTF1	25909	genome.wustl.edu	37	1	247039486	247039486	+	Missense_Mutation	SNP	C	C	G			TCGA-61-1722-01A-01D-1556-09	TCGA-61-1722-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f789c98d-74dd-4d65-b5f4-a18072db3f6e	c11b3ecb-7c61-44d8-b799-4d3c181bddca	g.chr1:247039486C>G	ENST00000391829.2	-	24	3064	c.2941G>C	c.(2941-2943)Gat>Cat	p.D981H	AHCTF1_ENST00000326225.3_Missense_Mutation_p.D990H|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000366508.1_Missense_Mutation_p.D1016H			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	981	Necessary for cytoplasmic localization. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			GGATCACGATCATTCTATTAA	0.318																																					Colon(145;197 1800 4745 15099 26333)											0			1											29.0	29.0	29.0					1																	247039486		2202	4300	6502	245106109	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.2941G>C	1.37:g.247039486C>G	ENSP00000375705:p.Asp981His		245106109	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	PatternScan_TUBULIN_B_AUTOREG,HMMPfam_AT_hook,HMMSmart_AT_hook	p.D981H	ENST00000391829.2	37	c.2941		1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.579045	0.86645	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.34859	1.34;1.34;1.34	5.23	5.23	0.72850	.	0.052321	0.85682	D	0.000000	T	0.56202	0.1969	L	0.59436	1.845	0.80722	D	1	D;D	0.69078	0.997;0.991	D;P	0.63192	0.912;0.751	T	0.56938	-0.7896	10	0.59425	D	0.04	-27.7221	19.186	0.93644	0.0:1.0:0.0:0.0	.	1016;981	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	H	1016;990;981	ENSP00000355464:D1016H;ENSP00000355465:D990H;ENSP00000375705:D981H	ENSP00000355465:D990H	D	-	1	0	AHCTF1	245106109	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	5.311000	0.65786	2.601000	0.87937	0.585000	0.79938	GAT	-	NULL		0.318	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	protein_coding		C	NM_015446		245106109	-1	no_errors	NM_015446	genbank	human	validated	54_36p	missense	SNP	1.000	G
