#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_BAM_File	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_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_EVS_AA	i_EVS_All	i_EVS_EA	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_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AGL	178	genome.wustl.edu	37	1	100350009	100350009	+	Splice_Site	SNP	T	T	C			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr1:100350009T>C	ENST00000294724.4	+	19	3024		c.e19+2		AGL_ENST00000361522.4_Splice_Site|AGL_ENST00000370161.2_Splice_Site|AGL_ENST00000361915.3_Splice_Site|AGL_ENST00000361302.3_Splice_Site|AGL_ENST00000370165.3_Splice_Site|AGL_ENST00000370163.3_Splice_Site	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase						carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TATATTCAGGTATGTTAATTG	0.284																																						dbGAP											0													32.0	34.0	34.0					1																	100350009		2183	4279	6462	-	-	-	SO:0001630	splice_region_variant	0			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2546+2T>C	1.37:g.100350009T>C			A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Splice_Site	SNP	-	e18+2	ENST00000294724.4	37	c.2546+2	CCDS759.1	1	.	.	.	.	.	.	.	.	.	.	T	19.05	3.752502	0.69533	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9117	0.79477	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	AGL	100122597	1.000000	0.71417	1.000000	0.80357	0.793000	0.44817	7.495000	0.81514	2.167000	0.68274	0.528000	0.53228	.	AGL	-	-	ENSG00000162688		0.284	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1	32	0.00	0	T	NM_000028	Intron	100350009	100350009	+1	no_errors	ENST00000294724	ensembl	human	known	69_37n	splice_site	15	40.00	10	SNP	1.000	C
VWA9	81556	genome.wustl.edu	37	15	65884055	65884055	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr15:65884055C>T	ENST00000395644.4	-	9	1336	c.1001G>A	c.(1000-1002)gGa>gAa	p.G334E	VWA9_ENST00000313182.2_Missense_Mutation_p.G334E|VWA9_ENST00000569491.1_Missense_Mutation_p.G284E|VWA9_ENST00000431261.2_Missense_Mutation_p.G255E|VWA9_ENST00000567744.1_Missense_Mutation_p.G370E|VWA9_ENST00000420799.2_Missense_Mutation_p.G277E|VWA9_ENST00000442903.3_Missense_Mutation_p.G298E			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	334																	GTAGAGCATTCCATGCCATTC	0.453																																						dbGAP											0													106.0	93.0	97.0					15																	65884055		2201	4299	6500	-	-	-	SO:0001583	missense	0			AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.1001G>A	15.37:g.65884055C>T	ENSP00000379006:p.Gly334Glu		B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	NULL	p.G370E	ENST00000395644.4	37	c.1109		15	.	.	.	.	.	.	.	.	.	.	C	31	5.085068	0.94100	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.83464	0.5260	M	0.81112	2.525	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.81914	0.99;0.992;0.988;0.995	D	0.84792	0.0779	9	0.87932	D	0	-22.4434	19.5916	0.95514	0.0:1.0:0.0:0.0	.	284;298;370;334	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	E	334;334;255;277;298	.	ENSP00000326379:G334E	G	-	2	0	C15orf44	63671108	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.580000	0.82523	2.861000	0.98227	0.655000	0.94253	GGA	C15orf44	-	NULL	ENSG00000138614		0.453	VWA9-201	KNOWN	basic|appris_principal	protein_coding	C15orf44	HGNC	protein_coding	OTTHUMT00000420604.3	46	0.00	0	C	NM_030800		65884055	65884055	-1	no_errors	ENST00000567744	ensembl	human	known	69_37n	missense	57	14.93	10	SNP	1.000	T
C17orf85	55421	genome.wustl.edu	37	17	3725313	3725313	+	Missense_Mutation	SNP	C	C	G			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr17:3725313C>G	ENST00000389005.4	-	8	857	c.830G>C	c.(829-831)aGt>aCt	p.S277T	C17orf85_ENST00000158149.3_5'UTR|C17orf85_ENST00000577169.1_5'Flank	NM_001114118.2	NP_001107590.1	Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	277							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		GTAATACTGACTTCTTCTGGC	0.333																																						dbGAP											0													176.0	164.0	168.0					17																	3725313		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS45578.1	17p13.2	2012-10-23			ENSG00000074356	ENSG00000074356			24612	protein-coding gene	gene with protein product	"""ELG protein"""					11412301	Standard	NM_001114118		Approved	HSA277841, ELG	uc010ckl.2	Q53F19	OTTHUMG00000177672	ENST00000389005.4:c.830G>C	17.37:g.3725313C>G	ENSP00000373657:p.Ser277Thr		B3KWG7|Q7L406|Q96FK1|Q9NXZ4	Missense_Mutation	SNP	pfam_DUF2414	p.S277T	ENST00000389005.4	37	c.830	CCDS45578.1	17	.	.	.	.	.	.	.	.	.	.	C	21.8	4.207405	0.79240	.	.	ENSG00000074356	ENST00000389005	.	.	.	5.72	5.72	0.89469	.	0.079256	0.85682	D	0.000000	T	0.63165	0.2488	M	0.64404	1.975	0.80722	D	1	D	0.57257	0.979	P	0.46718	0.525	T	0.67452	-0.5667	9	0.72032	D	0.01	-2.4203	17.7518	0.88436	0.0:1.0:0.0:0.0	.	277	Q53F19	CQ085_HUMAN	T	277	.	ENSP00000373657:S277T	S	-	2	0	C17orf85	3672062	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.358000	0.66064	2.873000	0.98535	0.563000	0.77884	AGT	C17orf85	-	NULL	ENSG00000074356		0.333	C17orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf85	HGNC	protein_coding	OTTHUMT00000438385.1	56	0.00	0	C	NM_018553		3725313	3725313	-1	no_errors	ENST00000389005	ensembl	human	known	69_37n	missense	78	13.33	12	SNP	1.000	G
CACNA1C	775	genome.wustl.edu	37	12	2602510	2602510	+	Silent	SNP	C	C	T			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr12:2602510C>T	ENST00000347598.4	+	7	1071	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	CACNA1C_ENST00000399637.1_Silent_p.F357F|CACNA1C_ENST00000399655.1_Silent_p.F357F|CACNA1C_ENST00000402845.3_Silent_p.F357F|CACNA1C_ENST00000344100.3_Silent_p.F357F|CACNA1C_ENST00000399629.1_Silent_p.F357F|CACNA1C_ENST00000335762.5_Silent_p.F357F|CACNA1C_ENST00000399638.1_Silent_p.F357F|CACNA1C_ENST00000399603.1_Silent_p.F357F|CACNA1C_ENST00000399597.1_Silent_p.F357F|CACNA1C_ENST00000399591.1_Silent_p.F357F|CACNA1C_ENST00000399621.1_Silent_p.F357F|CACNA1C_ENST00000399634.1_Silent_p.F357F|CACNA1C_ENST00000327702.7_Silent_p.F357F|CACNA1C_ENST00000399606.1_Silent_p.F357F|CACNA1C_ENST00000406454.3_Silent_p.F357F|CACNA1C_ENST00000399595.1_Silent_p.F357F|CACNA1C_ENST00000399617.1_Silent_p.F357F|CACNA1C_ENST00000399644.1_Silent_p.F357F|CACNA1C_ENST00000399649.1_Silent_p.F357F|CACNA1C_ENST00000399601.1_Silent_p.F357F|CACNA1C_ENST00000480911.1_Silent_p.F357F|CACNA1C_ENST00000399641.1_Silent_p.F357F	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	357					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCACGGTGTTCCAGTGCATCA	0.617																																						dbGAP											0													206.0	197.0	200.0					12																	2602510		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1071C>T	12.37:g.2602510C>T			B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.F357	ENST00000347598.4	37	c.1071	CCDS44788.1	12																																																																																			CACNA1C	-	pfam_Ion_trans_dom	ENSG00000151067		0.617	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	42	0.00	0	C	NM_000719		2602510	2602510	+1	no_errors	ENST00000399634	ensembl	human	known	69_37n	silent	37	31.48	17	SNP	1.000	T
CACNA1D	776	genome.wustl.edu	37	3	53810978	53810978	+	Missense_Mutation	SNP	T	T	A			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr3:53810978T>A	ENST00000350061.5	+	37	5093	c.4582T>A	c.(4582-4584)Tgc>Agc	p.C1528S	CACNA1D_ENST00000540742.1_Missense_Mutation_p.C420S|CACNA1D_ENST00000288139.4_Missense_Mutation_p.C1548S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.C1513S	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1528					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGGGTAGCGTGCAAGGTGAG	0.507																																						dbGAP											0													133.0	101.0	111.0					3																	53810978		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4582T>A	3.37:g.53810978T>A	ENSP00000288133:p.Cys1528Ser		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.C1548S	ENST00000350061.5	37	c.4642	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	T	18.22	3.576654	0.65878	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;T;T	0.96587	-4.02;-4.06;-4.03;2.97;2.97	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.98346	0.9451	M	0.88450	2.955	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;1.0;0.999;1.0	D;D;D;D;D	0.91635	0.997;0.962;0.993;0.987;0.999	D	0.99482	1.0948	10	0.87932	D	0	.	16.0395	0.80654	0.0:0.0:0.0:1.0	.	1513;420;1221;1528;1548	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	S	1528;1548;1513;1221;420	ENSP00000288133:C1528S;ENSP00000288139:C1548S;ENSP00000409174:C1513S;ENSP00000418014:C1221S;ENSP00000438229:C420S	ENSP00000288139:C1548S	C	+	1	0	CACNA1D	53786018	1.000000	0.71417	0.789000	0.31954	0.082000	0.17680	8.040000	0.89188	2.188000	0.69820	0.533000	0.62120	TGC	CACNA1D	-	NULL	ENSG00000157388		0.507	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	34	0.00	0	T	NM_000720		53810978	53810978	+1	no_errors	ENST00000288139	ensembl	human	known	69_37n	missense	48	20.00	12	SNP	1.000	A
CACNA1S	779	genome.wustl.edu	37	1	201038705	201038705	+	Silent	SNP	G	G	T	rs200730765		TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr1:201038705G>T	ENST00000362061.3	-	18	2611	c.2385C>A	c.(2383-2385)atC>atA	p.I795I	CACNA1S_ENST00000367338.3_Silent_p.I795I	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	795					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TGGCATTGACGATGCGGTGAC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		20145	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													75.0	51.0	59.0					1																	201038705		2188	4275	6463	-	-	-	SO:0001819	synonymous_variant	0			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.2385C>A	1.37:g.201038705G>T			A4IF51|B1ALM2|Q12896|Q13934	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.I795	ENST00000362061.3	37	c.2385	CCDS1407.1	1																																																																																			CACNA1S	-	NULL	ENSG00000081248		0.612	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	22	0.00	0	G	NM_000069		201038705	201038705	-1	no_errors	ENST00000362061	ensembl	human	known	69_37n	silent	40	27.27	15	SNP	0.951	T
CDRT1	374286	genome.wustl.edu	37	17	15522759	15522759	+	Missense_Mutation	SNP	A	A	T	rs201445711		TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr17:15522759A>T	ENST00000395906.3	-	1	67	c.68T>A	c.(67-69)aTc>aAc	p.I23N	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	23										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GCATAGAGGGATGGAATCGGT	0.468																																						dbGAP											0													215.0	229.0	224.0					17																	15522759		2202	4300	6502	-	-	-	SO:0001583	missense	0			U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.68T>A	17.37:g.15522759A>T	ENSP00000379242:p.Ile23Asn		O43848|O95611	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I23N	ENST00000395906.3	37	c.68	CCDS45619.1	17	195	0.08928571428571429	32	0.06504065040650407	40	0.11049723756906077	28	0.04895104895104895	95	0.12532981530343007	.	6.026	0.373201	0.11409	.	.	ENSG00000251537	ENST00000261644;ENST00000395906	T	0.24723	1.84	5.01	3.92	0.45320	.	.	.	.	.	T	0.00144	0.0004	N	0.08118	0	0.41745	D	0.989634	P	0.36438	0.553	B	0.32465	0.146	T	0.35025	-0.9805	9	0.66056	D	0.02	.	10.5666	0.45175	0.8552:0.0:0.0:0.1448	.	23	O95170	CDRT1_HUMAN	N	23	ENSP00000379242:I23N	ENSP00000261644:I23N	I	-	2	0	RP11-385D13.1	15463484	0.022000	0.18835	0.015000	0.15790	0.003000	0.03518	1.621000	0.36986	0.847000	0.35167	-0.456000	0.05471	ATC	CDRT1	-	NULL	ENSG00000241322		0.468	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CDRT1	HGNC	protein_coding	OTTHUMT00000448127.1	73	0.00	0	A	NM_006382		15522759	15522759	-1	no_errors	ENST00000395906	ensembl	human	known	69_37n	missense	42	14.29	7	SNP	0.464	T
CKAP2	26586	genome.wustl.edu	37	13	53049138	53049138	+	Missense_Mutation	SNP	G	G	T			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr13:53049138G>T	ENST00000378037.5	+	9	2004	c.1914G>T	c.(1912-1914)ttG>ttT	p.L638F	CKAP2_ENST00000490903.1_Missense_Mutation_p.L589F|CKAP2_ENST00000258607.5_Missense_Mutation_p.L637F	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CTTCTAAATTGCCAGATATGT	0.398																																						dbGAP											0													108.0	103.0	105.0					13																	53049138		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.1914G>T	13.37:g.53049138G>T	ENSP00000367276:p.Leu638Phe			Missense_Mutation	SNP	NULL	p.L638F	ENST00000378037.5	37	c.1914	CCDS41893.1	13	.	.	.	.	.	.	.	.	.	.	.	17.89	3.500132	0.64298	.	.	ENSG00000136108	ENST00000258607;ENST00000378037;ENST00000490903	T;T;T	0.33865	1.39;1.39;1.39	5.98	2.97	0.34412	.	0.163679	0.40554	N	0.001078	T	0.53965	0.1829	M	0.80847	2.515	0.32280	N	0.567653	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.76071	0.987;0.987;0.987	T	0.60561	-0.7239	10	0.45353	T	0.12	-3.7312	4.784	0.13217	0.2869:0.0:0.5592:0.1539	.	589;638;637	E9PD90;Q8WWK9;B2RMQ4	.;CKAP2_HUMAN;.	F	637;638;589	ENSP00000258607:L637F;ENSP00000367276:L638F;ENSP00000417830:L589F	ENSP00000258607:L637F	L	+	3	2	CKAP2	51947139	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	0.628000	0.24522	0.879000	0.35944	0.650000	0.86243	TTG	CKAP2	-	NULL	ENSG00000136108		0.398	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CKAP2	HGNC	protein_coding	OTTHUMT00000355010.2	31	0.00	0	G			53049138	53049138	+1	no_errors	ENST00000378037	ensembl	human	known	69_37n	missense	10	60.00	15	SNP	0.963	T
CROCC	9696	genome.wustl.edu	37	1	17266536	17266536	+	Missense_Mutation	SNP	G	G	C	rs9435714	byFrequency	TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr1:17266536G>C	ENST00000375541.5	+	13	1825	c.1756G>C	c.(1756-1758)Gac>Cac	p.D586H	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGCCCACGAGGACGCCCAGCG	0.687																																						dbGAP											0													18.0	18.0	18.0					1																	17266536		2192	4282	6474	-	-	-	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.1756G>C	1.37:g.17266536G>C	ENSP00000364691:p.Asp586His			Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.D586H	ENST00000375541.5	37	c.1756	CCDS30616.1	1	519	0.23763736263736263	48	0.0975609756097561	79	0.21823204419889503	205	0.3583916083916084	187	0.24670184696569922	G	15.26	2.782176	0.49891	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.10960	2.82	4.99	4.08	0.47627	.	.	.	.	.	T	0.00012	0.0000	M	0.77103	2.36	0.41904	D	0.990437	D;D;D	0.89917	0.999;1.0;0.995	D;D;P	0.71656	0.964;0.974;0.874	T	0.40757	-0.9546	9	0.49607	T	0.09	.	11.8785	0.52560	0.0876:0.0:0.9124:0.0	rs9435714	449;449;586	A1L0S8;A1L0S9;Q5TZA2	.;.;CROCC_HUMAN	H	586;467	ENSP00000364691:D586H	ENSP00000364691:D586H	D	+	1	0	CROCC	17139123	1.000000	0.71417	0.992000	0.48379	0.609000	0.37215	5.471000	0.66762	1.432000	0.47375	0.561000	0.74099	GAC	CROCC	-	NULL	ENSG00000058453		0.687	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	10	0.00	0	G	NM_014675		17266536	17266536	+1	no_errors	ENST00000375541	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	1.000	C
CNST	163882	genome.wustl.edu	37	1	246805311	246805311	+	Missense_Mutation	SNP	G	G	C			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr1:246805311G>C	ENST00000366513.4	+	8	1178	c.909G>C	c.(907-909)aaG>aaC	p.K303N	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.K303N	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	303					negative regulation of phosphatase activity (GO:0010923)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	connexin binding (GO:0071253)|phosphatase binding (GO:0019902)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						AAGATCCAAAGGAAGGAGGAG	0.403																																						dbGAP											0													57.0	59.0	58.0					1																	246805311		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056563	CCDS1628.1, CCDS44343.1	1q44	2012-04-17	2009-11-03	2009-11-03	ENSG00000162852	ENSG00000162852		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	26486	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 64"""	613439	"""chromosome 1 open reading frame 71"""	C1orf71		19864490	Standard	NM_152609		Approved	FLJ32001, PPP1R64	uc001ibp.3	Q6PJW8	OTTHUMG00000040090	ENST00000366513.4:c.909G>C	1.37:g.246805311G>C	ENSP00000355470:p.Lys303Asn		Q5VSY9|Q5VTM7|Q8IYA9|Q8N3L5|Q8NB09|Q8TEI2|Q96MR5	Missense_Mutation	SNP	NULL	p.K303N	ENST00000366513.4	37	c.909	CCDS1628.1	1	.	.	.	.	.	.	.	.	.	.	g	12.28	1.889680	0.33348	.	.	ENSG00000162852	ENST00000366513;ENST00000366512	T;T	0.19532	2.15;2.14	5.8	2.12	0.27331	.	0.533599	0.19531	N	0.112059	T	0.20333	0.0489	M	0.66939	2.045	0.80722	D	1	B;B	0.17667	0.023;0.023	B;B	0.16289	0.015;0.015	T	0.04427	-1.0952	10	0.44086	T	0.13	-2.2124	6.4554	0.21926	0.1209:0.0:0.6148:0.2643	.	303;303	Q6PJW8;Q6PJW8-2	CNST_HUMAN;.	N	303	ENSP00000355470:K303N;ENSP00000355469:K303N	ENSP00000355469:K303N	K	+	3	2	CNST	244871934	0.980000	0.34600	0.464000	0.27143	0.163000	0.22366	0.916000	0.28651	0.669000	0.31146	0.580000	0.79431	AAG	CNST	-	NULL	ENSG00000162852		0.403	CNST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNST	HGNC	protein_coding	OTTHUMT00000096780.1	39	0.00	0	G	NM_152609		246805311	246805311	+1	no_errors	ENST00000366513	ensembl	human	known	69_37n	missense	34	24.44	11	SNP	0.918	C
CUL1	8454	genome.wustl.edu	37	7	148457520	148457520	+	Missense_Mutation	SNP	G	G	C			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr7:148457520G>C	ENST00000325222.4	+	7	1000	c.721G>C	c.(721-723)Gag>Cag	p.E241Q	CUL1_ENST00000602748.1_Missense_Mutation_p.E241Q|CUL1_ENST00000409469.1_Missense_Mutation_p.E241Q	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	241					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGCTGACACAGAGAGATTTTA	0.363																																						dbGAP											0													127.0	144.0	139.0					7																	148457520		2203	4300	6503	-	-	-	SO:0001583	missense	0			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.721G>C	7.37:g.148457520G>C	ENSP00000326804:p.Glu241Gln		D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.E241Q	ENST00000325222.4	37	c.721	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	G	27.4	4.823499	0.90873	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.74209	-0.82;-0.82	4.84	4.84	0.62591	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.82600	0.5072	M	0.77712	2.385	0.80722	D	1	D	0.53745	0.962	P	0.54856	0.762	T	0.82244	-0.0553	10	0.33141	T	0.24	-1.3732	17.2933	0.87163	0.0:0.0:1.0:0.0	.	241	Q13616	CUL1_HUMAN	Q	241;241;199;168	ENSP00000387160:E241Q;ENSP00000326804:E241Q	ENSP00000326804:E241Q	E	+	1	0	CUL1	148088453	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.993000	0.93524	2.377000	0.81083	0.585000	0.79938	GAG	CUL1	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	ENSG00000055130		0.363	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	43	0.00	0	G	NM_003592		148457520	148457520	+1	no_errors	ENST00000325222	ensembl	human	known	69_37n	missense	50	20.63	13	SNP	1.000	C
DNAH1	25981	genome.wustl.edu	37	3	52365312	52365312	+	Silent	SNP	G	G	T			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr3:52365312G>T	ENST00000420323.2	+	7	1281	c.1020G>T	c.(1018-1020)ggG>ggT	p.G340G		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	340	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TGAATGCAGGGGTCACCACTG	0.617																																						dbGAP											0													36.0	39.0	38.0					3																	52365312		2079	4193	6272	-	-	-	SO:0001819	synonymous_variant	0			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.1020G>T	3.37:g.52365312G>T			B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.G340	ENST00000420323.2	37	c.1020	CCDS46842.1	3																																																																																			DNAH1	-	NULL	ENSG00000114841		0.617	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	21	0.00	0	G	NM_015512		52365312	52365312	+1	no_errors	ENST00000420323	ensembl	human	known	69_37n	silent	14	39.13	9	SNP	0.027	T
DSCAML1	57453	genome.wustl.edu	37	11	117306505	117306505	+	Silent	SNP	T	T	C			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr11:117306505T>C	ENST00000321322.6	-	27	4912	c.4911A>G	c.(4909-4911)ccA>ccG	p.P1637P	DSCAML1_ENST00000527706.1_Silent_p.P1367P	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1577					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ACTTGATGGGTGGAATGGTGC	0.537																																						dbGAP											0													153.0	112.0	126.0					11																	117306505		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4911A>G	11.37:g.117306505T>C			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P1637	ENST00000321322.6	37	c.4911	CCDS8384.1	11																																																																																			DSCAML1	-	NULL	ENSG00000177103		0.537	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	32	0.00	0	T	NM_020693		117306505	117306505	-1	no_errors	ENST00000321322	ensembl	human	known	69_37n	silent	35	42.62	26	SNP	0.750	C
EPN1	29924	genome.wustl.edu	37	19	56204118	56204118	+	Missense_Mutation	SNP	C	C	G			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr19:56204118C>G	ENST00000270460.6	+	8	1444	c.1133C>G	c.(1132-1134)cCc>cGc	p.P378R	AC010525.4_ENST00000585559.1_RNA|EPN1_ENST00000085079.7_Missense_Mutation_p.P353R|EPN1_ENST00000411543.2_Missense_Mutation_p.P464R	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	378	8 X 3 AA repeats of [ED]-P-W.|Ala/Gly/Pro-rich.				embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		TTCTCAGATCCCTGGGGAGGG	0.652																																						dbGAP											0													11.0	14.0	13.0					19																	56204118		1915	4105	6020	-	-	-	SO:0001583	missense	0			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.1133C>G	19.37:g.56204118C>G	ENSP00000270460:p.Pro378Arg		Q86ST3|Q9HA18	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.P464R	ENST00000270460.6	37	c.1391	CCDS46199.1	19	.	.	.	.	.	.	.	.	.	.	C	13.64	2.296705	0.40594	.	.	ENSG00000063245	ENST00000270460;ENST00000085079;ENST00000544375;ENST00000411543	T;T;T	0.21191	2.19;2.18;2.02	3.44	3.44	0.39384	.	0.277214	0.34314	N	0.004064	T	0.39600	0.1084	L	0.58810	1.83	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.87578	0.994;0.998;0.994;0.994	T	0.12734	-1.0536	10	0.26408	T	0.33	-13.7946	14.1942	0.65659	0.0:1.0:0.0:0.0	.	339;464;378;353	B4DU91;Q9Y6I3-1;Q9Y6I3;Q9Y6I3-3	.;.;EPN1_HUMAN;.	R	378;353;339;464	ENSP00000270460:P378R;ENSP00000085079:P353R;ENSP00000406209:P464R	ENSP00000085079:P353R	P	+	2	0	EPN1	60895930	0.987000	0.35691	0.982000	0.44146	0.018000	0.09664	2.322000	0.43814	1.941000	0.56285	0.462000	0.41574	CCC	EPN1	-	NULL	ENSG00000063245		0.652	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1	13	0.00	0	C	NM_013333		56204118	56204118	+1	no_errors	ENST00000411543	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	0.998	G
EPS8	2059	genome.wustl.edu	37	12	15777330	15777330	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr12:15777330G>A	ENST00000281172.5	-	19	2492	c.2056C>T	c.(2056-2058)Cag>Tag	p.Q686*	EPS8_ENST00000540613.1_Nonsense_Mutation_p.Q426*|EPS8_ENST00000543523.1_Nonsense_Mutation_p.Q686*|EPS8_ENST00000543612.1_Nonsense_Mutation_p.Q686*|EPS8_ENST00000542903.1_Nonsense_Mutation_p.Q426*	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	686	Amphipathic helix. {ECO:0000250}.|Effector region. {ECO:0000250}.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TCCTCCATCTGAGATTTCCTT	0.463																																						dbGAP											0													168.0	154.0	159.0					12																	15777330		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.2056C>T	12.37:g.15777330G>A	ENSP00000281172:p.Gln686*		A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Nonsense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain	p.Q686*	ENST00000281172.5	37	c.2056	CCDS31753.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.900797|7.900797	0.98551|0.98551	.|.	.|.	ENSG00000151491|ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903|ENST00000543223	.|.	.|.	.|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.343274|.	0.31859|.	N|.	0.006953|.	.|T	.|0.77611	.|0.4156	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79505	.|-0.1776	.|4	0.62326|0.72032	D|D	0.03|0.01	-14.8096|-14.8096	17.9227|17.9227	0.88972|0.88972	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	686;686;686;426;426|685	.|.	ENSP00000281172:Q686X|ENSP00000443784:S685L	Q|S	-|-	1|2	0|0	EPS8|EPS8	15668597|15668597	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.682000|0.682000	0.39822|0.39822	6.562000|6.562000	0.73960|0.73960	2.666000|2.666000	0.90696|0.90696	0.650000|0.650000	0.86243|0.86243	CAG|TCA	EPS8	-	NULL	ENSG00000151491		0.463	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8	HGNC	protein_coding	OTTHUMT00000401093.1	30	0.00	0	G			15777330	15777330	-1	no_errors	ENST00000281172	ensembl	human	known	69_37n	nonsense	51	21.54	14	SNP	1.000	A
CCSER1	401145	genome.wustl.edu	37	4	91549368	91549368	+	Missense_Mutation	SNP	G	G	C			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr4:91549368G>C	ENST00000509176.1	+	6	2205	c.1917G>C	c.(1915-1917)aaG>aaC	p.K639N	CCSER1_ENST00000432775.2_Missense_Mutation_p.K639N|CCSER1_ENST00000333691.8_Missense_Mutation_p.K639N	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	639																	TAAAGATGAAGAGAGTTCTTC	0.438																																						dbGAP											0													60.0	60.0	60.0					4																	91549368		1889	4117	6006	-	-	-	SO:0001583	missense	0				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1917G>C	4.37:g.91549368G>C	ENSP00000425040:p.Lys639Asn		Q4W5M0|Q86V57	Missense_Mutation	SNP	NULL	p.K639N	ENST00000509176.1	37	c.1917	CCDS47099.1	4	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571739	0.65765	.	.	ENSG00000184305	ENST00000509176;ENST00000432775;ENST00000333691;ENST00000458365	T;T;T	0.55930	0.97;0.49;0.97	5.03	4.19	0.49359	.	0.174537	0.47852	D	0.000205	T	0.67767	0.2928	L	0.60455	1.87	0.32674	N	0.516418	D;D	0.76494	0.999;0.999	D;D	0.74023	0.982;0.974	T	0.77461	-0.2579	10	0.87932	D	0	-13.1606	14.4895	0.67642	0.0725:0.0:0.9275:0.0	.	639;639	Q9C0I3-2;Q9C0I3	.;F190A_HUMAN	N	639	ENSP00000425040:K639N;ENSP00000389283:K639N;ENSP00000329482:K639N	ENSP00000329482:K639N	K	+	3	2	FAM190A	91768391	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	2.315000	0.43752	1.445000	0.47624	0.650000	0.86243	AAG	FAM190A	-	NULL	ENSG00000184305		0.438	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM190A	HGNC	protein_coding	OTTHUMT00000363109.3	17	0.00	0	G	NM_001145065		91549368	91549368	+1	no_errors	ENST00000333691	ensembl	human	known	69_37n	missense	27	25.00	9	SNP	1.000	C
FKBP8	23770	genome.wustl.edu	37	19	18650369	18650369	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr19:18650369C>T	ENST00000596558.2	-	3	563	c.454G>A	c.(454-456)Gtc>Atc	p.V152I	FKBP8_ENST00000222308.4_Missense_Mutation_p.V152I|FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000453489.2_Missense_Mutation_p.V181I|FKBP8_ENST00000597960.3_Missense_Mutation_p.V152I|FKBP8_ENST00000608443.1_Missense_Mutation_p.V152I			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	152	PPIase FKBP-type. {ECO:0000255|PROSITE- ProRule:PRU00277}.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						ACCTGGATGACGTCACAGTCA	0.662																																						dbGAP											0													68.0	70.0	69.0					19																	18650369		2203	4300	6503	-	-	-	SO:0001583	missense	0			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.454G>A	19.37:g.18650369C>T	ENSP00000472302:p.Val152Ile		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.V181I	ENST00000596558.2	37	c.541		19	.	.	.	.	.	.	.	.	.	.	C	15.92	2.974495	0.53720	.	.	ENSG00000105701	ENST00000222308;ENST00000453489	D;D	0.88431	-2.38;-2.38	3.5	2.38	0.29361	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.070621	0.56097	D	0.000031	D	0.89164	0.6637	M	0.85945	2.785	0.80722	D	1	P;P;D	0.59357	0.829;0.684;0.985	B;B;P	0.45998	0.174;0.254;0.5	D	0.87620	0.2509	10	0.31617	T	0.26	-33.0111	10.1738	0.42927	0.2132:0.7868:0.0:0.0	.	181;152;152	B7Z6M0;Q14318;Q14318-2	.;FKBP8_HUMAN;.	I	152;181	ENSP00000222308:V152I;ENSP00000388891:V181I	ENSP00000222308:V152I	V	-	1	0	FKBP8	18511369	1.000000	0.71417	0.991000	0.47740	0.978000	0.69477	5.540000	0.67205	1.786000	0.52430	0.561000	0.74099	GTC	FKBP8	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	ENSG00000105701		0.662	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	FKBP8	HGNC	protein_coding	OTTHUMT00000466374.3	8	0.00	0	C	NM_012181		18650369	18650369	-1	no_errors	ENST00000453489	ensembl	human	known	69_37n	missense	16	30.43	7	SNP	0.986	T
GBP5	115362	genome.wustl.edu	37	1	89729432	89729432	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr1:89729432C>T	ENST00000370459.3	-	8	1476	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q	GBP5_ENST00000343435.5_Missense_Mutation_p.R450Q|RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000471171.1_5'Flank			Q96PP8	GBP5_HUMAN	guanylate binding protein 5	450						cytoplasm (GO:0005737)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TATTCCTTTCCGAGGCTCCCG	0.433																																						dbGAP											0													140.0	134.0	136.0					1																	89729432		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF430642	CCDS722.1	1p22.2	2008-02-05			ENSG00000154451	ENSG00000154451			19895	protein-coding gene	gene with protein product		611467					Standard	NM_052942		Approved		uc001dnd.3	Q96PP8	OTTHUMG00000010006	ENST00000370459.3:c.1349G>A	1.37:g.89729432C>T	ENSP00000359488:p.Arg450Gln		B2RCE1|Q86TM5	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.R450Q	ENST00000370459.3	37	c.1349	CCDS722.1	1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.393130	0.42410	.	.	ENSG00000154451	ENST00000343435;ENST00000370459;ENST00000443807	T;T;T	0.02158	4.42;4.42;4.42	4.94	3.06	0.35304	Guanylate-binding protein, C-terminal (3);	0.428779	0.25753	N	0.028538	T	0.01523	0.0049	M	0.75884	2.315	0.22266	N	0.999243	P	0.45986	0.87	B	0.40864	0.342	T	0.42137	-0.9469	10	0.54805	T	0.06	-3.373	9.2703	0.37668	0.0:0.8242:0.0:0.1758	.	450	Q96PP8	GBP5_HUMAN	Q	450	ENSP00000340396:R450Q;ENSP00000359488:R450Q;ENSP00000403010:R450Q	ENSP00000340396:R450Q	R	-	2	0	GBP5	89502020	0.581000	0.26741	0.717000	0.30585	0.258000	0.26162	1.715000	0.37971	0.811000	0.34303	0.551000	0.68910	CGG	GBP5	-	pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	ENSG00000154451		0.433	GBP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP5	HGNC	protein_coding	OTTHUMT00000027700.1	74	0.00	0	C	NM_052942		89729432	89729432	-1	no_errors	ENST00000343435	ensembl	human	known	69_37n	missense	53	13.11	8	SNP	0.942	T
HMOX2	3163	genome.wustl.edu	37	16	4558020	4558020	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr16:4558020G>A	ENST00000570646.1	+	4	1116	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	HMOX2_ENST00000575120.1_Missense_Mutation_p.A142T|HMOX2_ENST00000414777.1_Missense_Mutation_p.A171T|HMOX2_ENST00000406590.2_Missense_Mutation_p.A171T|HMOX2_ENST00000398595.3_Missense_Mutation_p.A171T|HMOX2_ENST00000219700.6_Missense_Mutation_p.A171T|HMOX2_ENST00000458134.3_Missense_Mutation_p.A171T	NM_002134.3	NP_002125.3	P30519	HMOX2_HUMAN	heme oxygenase (decycling) 2	171					cellular iron ion homeostasis (GO:0006879)|heme catabolic process (GO:0042167)|heme oxidation (GO:0006788)|porphyrin-containing compound metabolic process (GO:0006778)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heme oxygenase (decyclizing) activity (GO:0004392)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						GAAGAAGGTGGCCCAGCGAGC	0.597																																						dbGAP											0													42.0	43.0	43.0					16																	4558020		2197	4300	6497	-	-	-	SO:0001583	missense	0				CCDS10517.1, CCDS66931.1, CCDS73818.1	16p13.3	2008-02-05			ENSG00000103415	ENSG00000103415	1.14.99.3		5014	protein-coding gene	gene with protein product		141251				1575508	Standard	NM_002134		Approved	HO-2	uc002cwq.4	P30519	OTTHUMG00000129473	ENST00000570646.1:c.511G>A	16.37:g.4558020G>A	ENSP00000459214:p.Ala171Thr		A8MT35|D3DUD5|I3L430|O60605	Missense_Mutation	SNP	pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase	p.A171T	ENST00000570646.1	37	c.511	CCDS10517.1	16	.	.	.	.	.	.	.	.	.	.	G	29.3	4.997345	0.93227	.	.	ENSG00000103415	ENST00000406590;ENST00000458134;ENST00000219700;ENST00000414777;ENST00000398595	T;T;T;T;T	0.25749	1.78;1.78;1.78;1.78;1.78	5.72	5.72	0.89469	Haem oxygenase-like, multi-helical (2);	0.000000	0.85682	D	0.000000	T	0.33789	0.0875	L	0.57130	1.785	0.80722	D	1	D;D	0.54772	0.968;0.968	P;P	0.46076	0.503;0.503	T	0.02404	-1.1164	10	0.33940	T	0.23	-9.8413	18.4551	0.90717	0.0:0.0:1.0:0.0	.	171;171	B3KSE0;P30519	.;HMOX2_HUMAN	T	171	ENSP00000385100:A171T;ENSP00000394103:A171T;ENSP00000219700:A171T;ENSP00000391637:A171T;ENSP00000381595:A171T	ENSP00000219700:A171T	A	+	1	0	HMOX2	4498021	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.709000	0.92574	0.561000	0.74099	GCC	HMOX2	-	pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase	ENSG00000103415		0.597	HMOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMOX2	HGNC	protein_coding	OTTHUMT00000251636.2	22	0.00	0	G			4558020	4558020	+1	no_errors	ENST00000219700	ensembl	human	known	69_37n	missense	19	36.67	11	SNP	1.000	A
LAMA2	3908	genome.wustl.edu	37	6	129823915	129823915	+	Splice_Site	SNP	C	C	T	rs199806512		TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr6:129823915C>T	ENST00000421865.2	+	59	8405	c.8356C>T	c.(8356-8358)Cgt>Tgt	p.R2786C		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2786	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGTTAAAAACCGGTATGTATC	0.368																																						dbGAP											0													76.0	71.0	73.0					6																	129823915		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.8357+1C>T	6.37:g.129823915C>T			Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R2786C	ENST00000421865.2	37	c.8356	CCDS5138.1	6	.	.	.	.	.	.	.	.	.	.	C	19.98	3.926391	0.73327	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.70045	-0.45	6.07	5.13	0.70059	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	0.208582	0.47852	D	0.000218	T	0.52175	0.1718	L	0.60455	1.87	0.51767	D	0.999932	D;D	0.64830	0.994;0.994	B;B	0.41440	0.357;0.357	T	0.56998	-0.7886	9	.	.	.	.	14.0665	0.64834	0.2538:0.7462:0.0:0.0	.	2787;2786	A6NF00;P24043	.;LAMA2_HUMAN	C	2786;2785;2786;804	ENSP00000400365:R2786C	.	R	+	1	0	LAMA2	129865608	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	3.545000	0.53648	2.885000	0.99019	0.655000	0.94253	CGT	LAMA2	-	superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000196569		0.368	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA2	HGNC	protein_coding	OTTHUMT00000042180.1	43	0.00	0	C		Missense_Mutation	129823915	129823915	+1	no_errors	ENST00000421865	ensembl	human	known	69_37n	missense	56	12.50	8	SNP	1.000	T
LOXL2	4017	genome.wustl.edu	37	8	23217687	23217687	+	Missense_Mutation	SNP	C	C	G	rs367754650		TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr8:23217687C>G	ENST00000389131.3	-	3	816	c.447G>C	c.(445-447)aaG>aaC	p.K149N	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	149	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CCTCCGTGTGCTTGCAGTCAG	0.532																																						dbGAP											0													103.0	85.0	91.0					8																	23217687		2203	4300	6503	-	-	-	SO:0001583	missense	0			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.447G>C	8.37:g.23217687C>G	ENSP00000373783:p.Lys149Asn		B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Lysyl_oxidase,prints_Srcr_rcpt	p.K149N	ENST00000389131.3	37	c.447	CCDS34864.1	8	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568771	0.65765	.	.	ENSG00000134013	ENST00000389131;ENST00000524144;ENST00000520871;ENST00000518083	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.62	3.46	0.39613	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.17789	0.0427	N	0.16656	0.425	0.47819	D	0.999524	B	0.24092	0.097	B	0.28709	0.093	T	0.06373	-1.0830	10	0.29301	T	0.29	.	7.9454	0.29982	0.0:0.7436:0.0:0.2564	.	149	Q9Y4K0	LOXL2_HUMAN	N	149;230;190;149	ENSP00000373783:K149N;ENSP00000427883:K230N;ENSP00000429778:K190N;ENSP00000430519:K149N	ENSP00000373783:K149N	K	-	3	2	LOXL2	23273632	0.956000	0.32656	1.000000	0.80357	0.968000	0.65278	0.075000	0.14686	1.515000	0.48885	-0.137000	0.14449	AAG	LOXL2	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000134013		0.532	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL2	HGNC	protein_coding	OTTHUMT00000375603.1	14	0.00	0	C			23217687	23217687	-1	no_errors	ENST00000389131	ensembl	human	known	69_37n	missense	14	36.36	8	SNP	1.000	G
LRP8	7804	genome.wustl.edu	37	1	53729901	53729901	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr1:53729901C>T	ENST00000306052.6	-	10	1696	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H	LRP8_ENST00000465675.1_Missense_Mutation_p.R85H|LRP8_ENST00000347547.2_Missense_Mutation_p.R362H|LRP8_ENST00000371454.2_Missense_Mutation_p.R532H|LRP8_ENST00000354412.3_Missense_Mutation_p.R403H|LRP8_ENST00000460214.1_5'Flank	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	532					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GAAGAGAGTGCGTCGGCGGCC	0.597																																						dbGAP											0													64.0	63.0	63.0					1																	53729901		2203	4300	6503	-	-	-	SO:0001583	missense	0			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1595G>A	1.37:g.53729901C>T	ENSP00000303634:p.Arg532His		B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R532H	ENST00000306052.6	37	c.1595	CCDS578.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.99|13.99	2.403192|2.403192	0.42613|0.42613	.|.	.|.	ENSG00000157193|ENSG00000157193	ENST00000475501|ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	.|D;D;D;D;D	.|0.93547	.|-3.24;-3.24;-3.24;-3.24;-3.24	5.16|5.16	3.16|3.16	0.36331|0.36331	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|.	.|.	.|.	.|.	D|D	0.90896|0.90896	0.7139|0.7139	L|L	0.60845|0.60845	1.875|1.875	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B;B	.|0.18863	.|0.019;0.012;0.026;0.005;0.007;0.031	.|B;B;B;B;B;B	.|0.20955	.|0.032;0.004;0.021;0.002;0.015;0.032	D|D	0.85163|0.85163	0.0993|0.0993	5|9	.|0.72032	.|D	.|0.01	.|.	9.5438|9.5438	0.39268|0.39268	0.0:0.7613:0.0:0.2387|0.0:0.7613:0.0:0.2387	.|.	.|85;403;362;532;532;85	.|B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.|.;.;.;.;LRP8_HUMAN;.	T|H	221|532;532;85;403;362	.|ENSP00000303634:R532H;ENSP00000360509:R532H;ENSP00000437009:R85H;ENSP00000346391:R403H;ENSP00000334522:R362H	.|ENSP00000303634:R532H	A|R	-|-	1|2	0|0	LRP8|LRP8	53502489|53502489	0.001000|0.001000	0.12720|0.12720	0.546000|0.546000	0.28166|0.28166	0.674000|0.674000	0.39518|0.39518	0.593000|0.593000	0.23999|0.23999	1.406000|1.406000	0.46857|0.46857	0.650000|0.650000	0.86243|0.86243	GCA|CGC	LRP8	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000157193		0.597	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRP8	HGNC	protein_coding	OTTHUMT00000024699.1	26	0.00	0	C	NM_004631		53729901	53729901	-1	no_errors	ENST00000306052	ensembl	human	known	69_37n	missense	28	42.86	21	SNP	0.058	T
WDR82	80335	genome.wustl.edu	37	3	52302332	52302332	+	Intron	SNP	G	G	C			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr3:52302332G>C	ENST00000296490.3	-	3	541				MIRLET7G_ENST00000362280.1_RNA	NM_025222.3	NP_079498.2	Q6UXN9	WDR82_HUMAN	WD repeat domain 82						histone H3-K4 methylation (GO:0051568)	chromatin (GO:0000785)|histone methyltransferase complex (GO:0035097)|PTW/PP1 phosphatase complex (GO:0072357)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TCCTGTACCGGGTGGTATCAT	0.557																																						dbGAP											0													48.0	42.0	44.0					3																	52302332		1331	3040	4371	-	-	-	SO:0001627	intron_variant	0			AF132207	CCDS2851.2	3p21.2	2013-01-10	2007-07-04	2007-07-04	ENSG00000164091	ENSG00000164091		"""WD repeat domain containing"""	28826	protein-coding gene	gene with protein product		611059	"""transmembrane protein 113"""	TMEM113		17355966	Standard	NM_025222		Approved	PRO2730, MST107, MSTP107, PRO34047, WDR82A, SWD2	uc003ddl.2	Q6UXN9	OTTHUMG00000150391	ENST00000296490.3:c.260-1298C>G	3.37:g.52302332G>C			A8K5R5|Q8TEB2	RNA	SNP	-	NULL	ENST00000296490.3	37	NULL	CCDS2851.2	3																																																																																			MIRLET7G	-	-	ENSG00000199150		0.557	WDR82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIRLET7G	HGNC	protein_coding	OTTHUMT00000317919.1	34	0.00	0	G	NM_025222		52302332	52302332	-1	no_errors	ENST00000362280	ensembl	human	known	69_37n	rna	23	39.47	15	SNP	1.000	C
MUC12	10071	genome.wustl.edu	37	7	100648354	100648354	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr7:100648354C>T	ENST00000379442.3	+	5	14939	c.14939C>T	c.(14938-14940)tCa>tTa	p.S4980L	MUC12_ENST00000536621.1_Missense_Mutation_p.S4837L			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4980	Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						TCAACAGTGTCACCTGCCAGC	0.517																																						dbGAP											0													173.0	151.0	158.0					7																	100648354		692	1591	2283	-	-	-	SO:0001583	missense	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.14939C>T	7.37:g.100648354C>T	ENSP00000368755:p.Ser4980Leu		A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.S4980L	ENST00000379442.3	37	c.14939		7	.	.	.	.	.	.	.	.	.	.	C	3.454	-0.111480	0.06881	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.11495	2.77;2.77	0.361	0.361	0.16107	.	.	.	.	.	T	0.04952	0.0133	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.45716	-0.9242	7	0.22706	T	0.39	.	6.5391	0.22370	0.0:0.9998:0.0:2.0E-4	.	.	.	.	L	4980;4837	ENSP00000368755:S4980L;ENSP00000441929:S4837L	ENSP00000368755:S4980L	S	+	2	0	MUC12	100435074	0.000000	0.05858	0.009000	0.14445	0.008000	0.06430	-0.250000	0.08830	0.430000	0.26230	0.430000	0.28490	TCA	MUC12	-	NULL	ENSG00000205277		0.517	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	97	0.00	0	C	XM_379904		100648354	100648354	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	missense	29	43.14	22	SNP	0.210	T
MYH6	4624	genome.wustl.edu	37	14	23863422	23863422	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr14:23863422G>A	ENST00000356287.3	-	20	2569	c.2540C>T	c.(2539-2541)aCg>aTg	p.T847M	MYH6_ENST00000405093.3_Missense_Mutation_p.T847M			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	847					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTCCTTCTCCGTCTCTGCGCT	0.562																																						dbGAP											0													123.0	111.0	115.0					14																	23863422		2203	4300	6503	-	-	-	SO:0001583	missense	0			D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.2540C>T	14.37:g.23863422G>A	ENSP00000348634:p.Thr847Met		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T847M	ENST00000356287.3	37	c.2540	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	g	21.6	4.178844	0.78564	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.93659	-3.26;-3.26	4.57	4.57	0.56435	.	.	.	.	.	D	0.93549	0.7941	L	0.60012	1.86	0.50313	D	0.99986	P	0.44690	0.841	P	0.47744	0.556	D	0.93578	0.6910	9	0.45353	T	0.12	.	17.7489	0.88428	0.0:0.0:1.0:0.0	.	847	P13533	MYH6_HUMAN	M	847	ENSP00000386041:T847M;ENSP00000348634:T847M	ENSP00000348634:T847M	T	-	2	0	MYH6	22933262	0.990000	0.36364	0.937000	0.37676	0.921000	0.55340	6.413000	0.73308	2.274000	0.75844	0.555000	0.69702	ACG	MYH6	-	NULL	ENSG00000197616		0.562	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	HGNC	protein_coding	OTTHUMT00000071796.3	45	0.00	0	G			23863422	23863422	-1	no_errors	ENST00000356287	ensembl	human	known	69_37n	missense	42	43.24	32	SNP	1.000	A
OR2L13	284521	genome.wustl.edu	37	1	248262902	248262902	+	Silent	SNP	C	C	A			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr1:248262902C>A	ENST00000358120.2	+	2	370	c.225C>A	c.(223-225)acC>acA	p.T75T	OR2L13_ENST00000366478.2_Silent_p.T75T			Q8N349	OR2LD_HUMAN	olfactory receptor, family 2, subfamily L, member 13	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			ACATCTCCACCACCGTCCCCA	0.542																																						dbGAP											0													231.0	207.0	215.0					1																	248262902		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC028158	CCDS1637.1	1q44	2012-08-09			ENSG00000196071	ENSG00000196071		"""GPCR / Class A : Olfactory receptors"""	19578	protein-coding gene	gene with protein product				OR2L14			Standard	NM_175911		Approved		uc001ids.3	Q8N349	OTTHUMG00000040446	ENST00000358120.2:c.225C>A	1.37:g.248262902C>A			Q5VUR5	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.T75	ENST00000358120.2	37	c.225	CCDS1637.1	1																																																																																			OR2L13	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196071		0.542	OR2L13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L13	HGNC	protein_coding	OTTHUMT00000097342.1	74	0.00	0	C	NM_175911		248262902	248262902	+1	no_errors	ENST00000358120	ensembl	human	known	69_37n	silent	64	35.35	35	SNP	0.001	A
OR5AK2	390181	genome.wustl.edu	37	11	56756390	56756390	+	Start_Codon_SNP	SNP	T	T	C	rs201430678		TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr11:56756390T>C	ENST00000326855.2	+	1	44	c.2T>C	c.(1-3)aTg>aCg	p.M1T		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	1						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TTACTAGCCATGACACTAGGA	0.398																																						dbGAP											0													110.0	109.0	109.0					11																	56756390		2201	4296	6497	-	-	-	SO:0001582	initiator_codon_variant	0			AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.2T>C	11.37:g.56756390T>C	ENSP00000322784:p.Met1Thr		B2RNZ9	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.M1T	ENST00000326855.2	37	c.2	CCDS31538.1	11	.	.	.	.	.	.	.	.	.	.	T	9.616	1.132529	0.21041	.	.	ENSG00000181273	ENST00000326855	T	0.01406	4.93	3.85	3.85	0.44370	.	0.000000	0.49305	D	0.000149	T	0.05868	0.0153	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.05683	-1.0870	9	0.87932	D	0	-55.4711	5.9841	0.19423	0.0:0.1184:0.0:0.8816	.	1	Q8NH90	O5AK2_HUMAN	T	1	ENSP00000322784:M1T	ENSP00000322784:M1T	M	+	2	0	OR5AK2	56512966	1.000000	0.71417	0.444000	0.26895	0.017000	0.09413	2.847000	0.48270	1.739000	0.51704	0.163000	0.16589	ATG	OR5AK2	-	NULL	ENSG00000181273		0.398	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AK2	HGNC	protein_coding	OTTHUMT00000392446.1	26	0.00	0	T	NM_001005323	Missense_Mutation	56756390	56756390	+1	no_errors	ENST00000326855	ensembl	human	known	69_37n	missense	25	24.24	8	SNP	0.933	C
OR5K2	402135	genome.wustl.edu	37	3	98217306	98217306	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr3:98217306G>A	ENST00000427338.1	+	1	859	c.782G>A	c.(781-783)aGa>aAa	p.R261K	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTATACATTAGACCAAATTTG	0.343																																						dbGAP											0													79.0	80.0	79.0					3																	98217306		2202	4300	6502	-	-	-	SO:0001583	missense	0			AC021660	CCDS33804.1	3q11.2	2013-09-23			ENSG00000231861	ENSG00000231861		"""GPCR / Class A : Olfactory receptors"""	14774	protein-coding gene	gene with protein product							Standard	NM_001004737		Approved		uc011bgx.2	Q8NHB8	OTTHUMG00000160049	ENST00000427338.1:c.782G>A	3.37:g.98217306G>A	ENSP00000393889:p.Arg261Lys		B2RN70|Q6IF47	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R261K	ENST00000427338.1	37	c.782	CCDS33804.1	3	.	.	.	.	.	.	.	.	.	.	G	3.121	-0.180567	0.06380	.	.	ENSG00000231861	ENST00000427338	T	0.37411	1.2	2.98	-1.06	0.10002	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42964	D	0.000633	T	0.26048	0.0635	L	0.43923	1.385	0.09310	N	1	B	0.20459	0.045	B	0.23852	0.049	T	0.17776	-1.0358	10	0.46703	T	0.11	-5.5292	7.5868	0.27998	0.4404:0.0:0.5596:0.0	.	261	Q8NHB8	OR5K2_HUMAN	K	261	ENSP00000393889:R261K	ENSP00000393889:R261K	R	+	2	0	OR5K2	99699996	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.137000	0.10389	-0.280000	0.09154	-0.339000	0.08088	AGA	OR5K2	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000231861		0.343	OR5K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K2	HGNC	protein_coding	OTTHUMT00000359020.2	55	0.00	0	G			98217306	98217306	+1	no_errors	ENST00000427338	ensembl	human	known	69_37n	missense	31	13.89	5	SNP	0.000	A
PCDHGB1	56104	genome.wustl.edu	37	5	140730085	140730085	+	Silent	SNP	G	G	A			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr5:140730085G>A	ENST00000523390.1	+	1	258	c.258G>A	c.(256-258)agG>agA	p.R86R	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1	Q9Y5G3	PCDGD_HUMAN	protocadherin gamma subfamily B, 1	86	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGGTAGGATAGATCGAG	0.463											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													92.0	89.0	90.0					5																	140730085		1865	4098	5963	-	-	-	SO:0001819	synonymous_variant	0			AF152517	CCDS54923.1, CCDS75330.1	5q31	2010-01-26				ENSG00000254221		"""Cadherins / Protocadherins : Clustered"""	8708	other	protocadherin	"""protocadherin gamma subfamily B, 1, isoform 2"""	606299				10380929	Standard	NM_018922		Approved	PCDH-GAMMA-B1		Q9Y5G3		ENST00000523390.1:c.258G>A	5.37:g.140730085G>A		1658	Q3SY75|Q9Y5C8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R86	ENST00000523390.1	37	c.258	CCDS54923.1	5																																																																																			PCDHGB1	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000254221		0.463	PCDHGB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB1	HGNC	protein_coding	OTTHUMT00000374740.1	49	0.00	0	G	NM_018922		140730085	140730085	+1	no_errors	ENST00000523390	ensembl	human	known	69_37n	silent	38	33.33	19	SNP	0.989	A
PIK3CA	5290	genome.wustl.edu	37	3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.		E -> Q (in CRC; likely involved in disease pathogenesis; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).|Missing (in MCAP). {ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCATGGATTAGAAGATTTGCT	0.348		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	19	Substitution - Missense(16)|Complex - frameshift(1)|Complex - deletion inframe(1)|Deletion - In frame(1)	endometrium(8)|breast(6)|lung(2)|large_intestine(1)|stomach(1)|central_nervous_system(1)											137.0	130.0	132.0					3																	178928079		1829	4090	5919	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1357G>A	3.37:g.178928079G>A	ENSP00000263967:p.Glu453Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E453K	ENST00000263967.3	37	c.1357	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.164616	0.94727	.	.	ENSG00000121879	ENST00000263967	T	0.71103	-0.54	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77130	0.4085	M	0.68317	2.08	0.80722	D	1	P	0.50528	0.936	P	0.50970	0.655	T	0.72500	-0.4274	10	0.20046	T	0.44	-22.2286	19.6973	0.96031	0.0:0.0:1.0:0.0	.	453	P42336	PK3CA_HUMAN	K	453	ENSP00000263967:E453K	ENSP00000263967:E453K	E	+	1	0	PIK3CA	180410773	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.448000	0.97600	2.674000	0.91012	0.655000	0.94253	GAA	PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000121879		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	48	0.00	0	G			178928079	178928079	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	53	22.06	15	SNP	1.000	A
PPRC1	23082	genome.wustl.edu	37	10	103899095	103899095	+	Missense_Mutation	SNP	A	A	C			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr10:103899095A>C	ENST00000278070.2	+	5	869	c.830A>C	c.(829-831)cAt>cCt	p.H277P	PPRC1_ENST00000370012.1_5'Flank|PPRC1_ENST00000413464.2_Missense_Mutation_p.H277P	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TTCCCCATGCATTTGGCCTGC	0.572																																						dbGAP											0													105.0	96.0	99.0					10																	103899095		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.830A>C	10.37:g.103899095A>C	ENSP00000278070:p.His277Pro		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H277P	ENST00000278070.2	37	c.830	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	A	13.12	2.140796	0.37825	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.27890	1.64;1.64	5.74	5.74	0.90152	.	0.177729	0.40144	N	0.001165	T	0.30262	0.0759	L	0.27053	0.805	0.28138	N	0.929897	D;D;D	0.59767	0.976;0.986;0.976	P;P;P	0.51016	0.656;0.656;0.454	T	0.20505	-1.0273	10	0.72032	D	0.01	.	10.0821	0.42395	0.9212:0.0:0.0788:0.0	.	277;157;277	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	P	277	ENSP00000278070:H277P;ENSP00000399743:H277P	ENSP00000278070:H277P	H	+	2	0	PPRC1	103889085	0.949000	0.32298	0.978000	0.43139	0.888000	0.51559	1.942000	0.40243	2.196000	0.70406	0.459000	0.35465	CAT	PPRC1	-	NULL	ENSG00000148840		0.572	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	37	0.00	0	A	NM_015062		103899095	103899095	+1	no_errors	ENST00000278070	ensembl	human	known	69_37n	missense	45	19.64	11	SNP	0.969	C
PTDSS2	81490	genome.wustl.edu	37	11	489687	489687	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr11:489687G>A	ENST00000308020.5	+	10	1245	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	357					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	CTTCGTGAACGTGGGTGGCGT	0.632																																						dbGAP											0													59.0	52.0	54.0					11																	489687		2195	4299	6494	-	-	-	SO:0001583	missense	0			BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.1069G>A	11.37:g.489687G>A	ENSP00000308258:p.Val357Met			Missense_Mutation	SNP	pfam_PSS	p.V357M	ENST00000308020.5	37	c.1069	CCDS7696.1	11	.	.	.	.	.	.	.	.	.	.	G	16.76	3.211467	0.58343	.	.	ENSG00000174915	ENST00000308020	.	.	.	3.2	3.2	0.36748	.	0.000000	0.64402	D	0.000002	T	0.19604	0.0471	N	0.02539	-0.55	0.80722	D	1	P	0.45986	0.87	B	0.36378	0.223	T	0.12426	-1.0548	9	0.15952	T	0.53	-23.8353	15.6881	0.77426	0.0:0.0:1.0:0.0	.	357	Q9BVG9	PTSS2_HUMAN	M	357	.	ENSP00000308258:V357M	V	+	1	0	PTDSS2	479687	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.369000	0.79578	2.114000	0.64651	0.561000	0.74099	GTG	PTDSS2	-	pfam_PSS	ENSG00000174915		0.632	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTDSS2	HGNC	protein_coding	OTTHUMT00000239301.2	24	0.00	0	G			489687	489687	+1	no_errors	ENST00000308020	ensembl	human	known	69_37n	missense	29	36.96	17	SNP	1.000	A
RAB11A	8766	genome.wustl.edu	37	15	66161954	66161954	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr15:66161954C>T	ENST00000261890.2	+	1	159	c.31C>T	c.(31-33)Ctc>Ttc	p.L11F	RAB11A_ENST00000435304.2_Missense_Mutation_p.L11F|RAB11A_ENST00000565075.1_Missense_Mutation_p.L11F|RAB11A_ENST00000564910.1_Missense_Mutation_p.L11F|RAB11A_ENST00000569896.1_Missense_Mutation_p.L11F	NM_001206836.1|NM_004663.4	NP_001193765.1|NP_004654.1	P62491	RB11A_HUMAN	RAB11A, member RAS oncogene family	11					cytokinesis (GO:0000910)|establishment of protein localization to membrane (GO:0090150)|exosomal secretion (GO:1990182)|GTP catabolic process (GO:0006184)|melanosome transport (GO:0032402)|multivesicular body assembly (GO:0036258)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|positive regulation of axon extension (GO:0045773)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of multivesicular body size (GO:0010796)|regulation of protein transport (GO:0051223)|small GTPase mediated signal transduction (GO:0007264)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	axon (GO:0030424)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|multivesicular body (GO:0005771)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)|syntaxin binding (GO:0019905)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5						GTACGACTACCTCTTTAAAGG	0.677																																						dbGAP											0													82.0	81.0	81.0					15																	66161954		2201	4299	6500	-	-	-	SO:0001583	missense	0			X56740	CCDS10212.1, CCDS58373.1	15q22.31	2008-05-14			ENSG00000103769	ENSG00000103769		"""RAB, member RAS oncogene"""	9760	protein-coding gene	gene with protein product		605570				1704119, 9662449	Standard	NM_004663		Approved	YL8	uc002apk.3	P62491	OTTHUMG00000133162	ENST00000261890.2:c.31C>T	15.37:g.66161954C>T	ENSP00000261890:p.Leu11Phe		B2R4B6|B4DT13|P24410|Q5TZN9|Q9JLX1	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L11F	ENST00000261890.2	37	c.31	CCDS10212.1	15	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195878	0.58126	.	.	ENSG00000103769	ENST00000261890;ENST00000435304	T;T	0.80824	-1.42;-1.42	4.41	4.41	0.53225	Small GTP-binding protein domain (1);	0.072068	0.52532	D	0.000064	T	0.77579	0.4151	M	0.68593	2.085	0.58432	D	0.999999	B;B	0.34147	0.046;0.438	B;B	0.26416	0.027;0.069	T	0.81378	-0.0960	10	0.87932	D	0	.	15.7444	0.77926	0.0:1.0:0.0:0.0	.	11;11	B4DT13;P62491	.;RB11A_HUMAN	F	11	ENSP00000261890:L11F;ENSP00000405767:L11F	ENSP00000261890:L11F	L	+	1	0	RAB11A	63949008	1.000000	0.71417	1.000000	0.80357	0.797000	0.45037	1.507000	0.35758	2.282000	0.76494	0.561000	0.74099	CTC	RAB11A	-	smart_Small_GTPase_Ras,tigrfam_Small_GTP-bd_dom	ENSG00000103769		0.677	RAB11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11A	HGNC	protein_coding	OTTHUMT00000256864.1	13	0.00	0	C			66161954	66161954	+1	no_errors	ENST00000261890	ensembl	human	known	69_37n	missense	21	27.59	8	SNP	1.000	T
RALY	22913	genome.wustl.edu	37	20	32661659	32661659	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr20:32661659G>A	ENST00000246194.3	+	5	866	c.364G>A	c.(364-366)Gac>Aac	p.D122N	RALY_ENST00000493399.1_Intron|RALY_ENST00000375114.3_Intron	NM_016732.2	NP_057951.1	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	122					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						CTACCGGGACGACTTCTACGA	0.577																																						dbGAP											0													80.0	68.0	72.0					20																	32661659		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF148457	CCDS13229.1, CCDS13230.1	20q11.21-q11.23	2013-08-06	2013-08-06		ENSG00000125970	ENSG00000125970		"""RNA binding motif (RRM) containing"""	15921	protein-coding gene	gene with protein product		614663	"""RNA-binding protein (autoantigenic, hnRNP-associated with lethal yellow)"", ""RNA binding protein, autoantigenic (hnRNP-associated with lethal yellow homolog (mouse))"""			10500250, 23614458	Standard	NM_016732		Approved	P542, HNRPCL2	uc002xab.3	Q9UKM9	OTTHUMG00000032283	ENST00000246194.3:c.364G>A	20.37:g.32661659G>A	ENSP00000246194:p.Asp122Asn		Q14621|Q2M365|Q5QPL8|Q9BQX6|Q9UJE3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.D122N	ENST00000246194.3	37	c.364	CCDS13230.1	20	.	.	.	.	.	.	.	.	.	.	G	18.95	3.731177	0.69189	.	.	ENSG00000125970	ENST00000448364;ENST00000246194;ENST00000333552	T;T;T	0.29917	2.87;2.93;1.55	4.76	2.74	0.32292	.	0.066652	0.56097	D	0.000021	T	0.31420	0.0796	M	0.63843	1.955	0.32514	N	0.537173	D	0.55385	0.971	P	0.45829	0.494	T	0.45731	-0.9241	10	0.51188	T	0.08	-9.9704	7.2279	0.26026	0.0874:0.0:0.7441:0.1685	.	122	Q9UKM9	RALY_HUMAN	N	122;122;56	ENSP00000413638:D122N;ENSP00000246194:D122N;ENSP00000327522:D56N	ENSP00000246194:D122N	D	+	1	0	RALY	32125320	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.322000	0.59215	0.567000	0.29293	0.561000	0.74099	GAC	RALY	-	pirsf_hnRNP_C_Raly	ENSG00000125970		0.577	RALY-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RALY	HGNC	protein_coding	OTTHUMT00000078753.1	27	0.00	0	G			32661659	32661659	+1	no_errors	ENST00000246194	ensembl	human	known	69_37n	missense	23	32.35	11	SNP	1.000	A
RHPN2	85415	genome.wustl.edu	37	19	33493752	33493752	+	Silent	SNP	G	G	A			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr19:33493752G>A	ENST00000254260.3	-	8	950	c.915C>T	c.(913-915)ttC>ttT	p.F305F	RHPN2_ENST00000400226.4_Silent_p.F154F	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	305	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TCACCAGCATGAAGAATTCAT	0.547																																						dbGAP											0													58.0	58.0	58.0					19																	33493752		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF268032	CCDS12427.1	19q13.12	2008-02-05				ENSG00000131941			19974	protein-coding gene	gene with protein product						12221077	Standard	NM_033103		Approved		uc002nuf.3	Q8IUC4		ENST00000254260.3:c.915C>T	19.37:g.33493752G>A			B2RCG8|B3KUY8|B4DUS7|Q8N3T7|Q8N9D6|Q8NE33|Q96RU1	Silent	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom	p.F305	ENST00000254260.3	37	c.915	CCDS12427.1	19																																																																																			RHPN2	-	pfam_BRO1_dom,pfscan_BRO1_dom	ENSG00000131941		0.547	RHPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN2	HGNC	protein_coding	OTTHUMT00000450828.2	24	0.00	0	G	NM_033103		33493752	33493752	-1	no_errors	ENST00000254260	ensembl	human	known	69_37n	silent	44	16.98	9	SNP	0.079	A
RYR3	6263	genome.wustl.edu	37	15	33858967	33858967	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr15:33858967G>A	ENST00000389232.4	+	12	1305	c.1235G>A	c.(1234-1236)cGg>cAg	p.R412Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R412Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	412					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGGATCATCCGGAACACTACA	0.532																																						dbGAP											0													185.0	189.0	188.0					15																	33858967		2114	4237	6351	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.1235G>A	15.37:g.33858967G>A	ENSP00000373884:p.Arg412Gln		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R412Q	ENST00000389232.4	37	c.1235	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382651	0.82792	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.96716	-4.1;-4.1	4.59	4.59	0.56863	.	0.000000	0.85682	D	0.000000	D	0.97219	0.9091	M	0.76838	2.35	0.45284	D	0.998283	D;D	0.76494	0.999;0.964	D;B	0.71870	0.975;0.381	D	0.96341	0.9251	10	0.51188	T	0.08	.	7.2427	0.26106	0.0871:0.0:0.7424:0.1705	.	412;412	Q15413-2;Q15413	.;RYR3_HUMAN	Q	412	ENSP00000373884:R412Q;ENSP00000399610:R412Q	ENSP00000354735:R412Q	R	+	2	0	RYR3	31646259	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.350000	0.73017	2.533000	0.85409	0.655000	0.94253	CGG	RYR3	-	NULL	ENSG00000198838		0.532	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	51	0.00	0	G			33858967	33858967	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	242	11.68	32	SNP	1.000	A
SLC22A1	6580	genome.wustl.edu	37	6	160543262	160543262	+	Missense_Mutation	SNP	G	G	A	rs535669545		TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr6:160543262G>A	ENST00000366963.4	+	1	442	c.295G>A	c.(295-297)Gcc>Acc	p.A99T	SLC22A1_ENST00000324965.4_Missense_Mutation_p.A99T|SLC22A1_ENST00000457470.2_Missense_Mutation_p.A99T	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	99					dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	GAACCAGAGCGCCCTCAGCTG	0.672																																						dbGAP											0													41.0	49.0	46.0					6																	160543262		2203	4299	6502	-	-	-	SO:0001583	missense	0			U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.295G>A	6.37:g.160543262G>A	ENSP00000355930:p.Ala99Thr		A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.A99T	ENST00000366963.4	37	c.295	CCDS5274.1	6	.	.	.	.	.	.	.	.	.	.	G	9.957	1.221721	0.22457	.	.	ENSG00000175003	ENST00000366963;ENST00000324965;ENST00000457470	T;T;T	0.74526	-0.68;-0.85;-0.84	5.31	-5.62	0.02481	.	0.626611	0.15467	N	0.260829	T	0.17365	0.0417	N	0.10707	0.03	0.09310	N	0.999999	B;B	0.26081	0.141;0.011	B;B	0.17098	0.014;0.017	T	0.42865	-0.9426	10	0.07813	T	0.8	.	5.0599	0.14551	0.4571:0.0:0.207:0.3359	.	99;99	O15245-2;O15245	.;S22A1_HUMAN	T	99	ENSP00000355930:A99T;ENSP00000318103:A99T;ENSP00000409557:A99T	ENSP00000318103:A99T	A	+	1	0	SLC22A1	160463252	0.001000	0.12720	0.874000	0.34290	0.877000	0.50540	0.502000	0.22594	-0.765000	0.04645	0.561000	0.74099	GCC	SLC22A1	-	tigrfam_Orgcat_transp	ENSG00000175003		0.672	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A1	HGNC	protein_coding	OTTHUMT00000042938.2	17	0.00	0	G			160543262	160543262	+1	no_errors	ENST00000366963	ensembl	human	known	69_37n	missense	22	31.25	10	SNP	0.306	A
SLC22A6	9356	genome.wustl.edu	37	11	62751063	62751063	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr11:62751063G>A	ENST00000377871.3	-	3	840	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000458333.2_Missense_Mutation_p.R192W|SLC22A6_ENST00000421062.2_Missense_Mutation_p.R192W|SLC22A6_ENST00000360421.4_Missense_Mutation_p.R192W	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	192					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	GAGAGGAGCCGGAAGGCGCAG	0.617																																						dbGAP											0													55.0	46.0	49.0					11																	62751063		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.574C>T	11.37:g.62751063G>A	ENSP00000367102:p.Arg192Trp		A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.R192W	ENST00000377871.3	37	c.574	CCDS31591.1	11	.	.	.	.	.	.	.	.	.	.	G	22.3	4.269799	0.80469	.	.	ENSG00000197901	ENST00000360421;ENST00000394651;ENST00000377871;ENST00000458333;ENST00000421062	D;D;D;D	0.90261	-2.64;-2.64;-2.64;-2.64	5.53	4.59	0.56863	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.96895	0.8986	H	0.98048	4.135	0.50313	D	0.999868	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	D	0.97131	0.9818	10	0.87932	D	0	.	11.3552	0.49611	0.0924:0.0:0.9076:0.0	.	192;192;192;192	Q4U2R8-4;Q4U2R8-3;Q4U2R8;Q4U2R8-2	.;.;S22A6_HUMAN;.	W	192;171;192;192;192	ENSP00000353597:R192W;ENSP00000367102:R192W;ENSP00000396401:R192W;ENSP00000404441:R192W	ENSP00000353597:R192W	R	-	1	2	SLC22A6	62507639	1.000000	0.71417	0.962000	0.40283	0.904000	0.53231	4.315000	0.59172	1.253000	0.44018	0.650000	0.86243	CGG	SLC22A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	ENSG00000197901		0.617	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	HGNC	protein_coding	OTTHUMT00000396186.1	34	0.00	0	G	NM_004790		62751063	62751063	-1	no_errors	ENST00000377871	ensembl	human	known	69_37n	missense	35	42.62	26	SNP	1.000	A
THSD7A	221981	genome.wustl.edu	37	7	11630106	11630106	+	Missense_Mutation	SNP	A	A	T			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr7:11630106A>T	ENST00000423059.4	-	4	1685	c.1434T>A	c.(1432-1434)agT>agA	p.S478R		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	478	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TCTTGTGGGTACTTAATTGTG	0.502										HNSCC(18;0.044)																												dbGAP											0													91.0	96.0	94.0					7																	11630106		1936	4132	6068	-	-	-	SO:0001583	missense	0				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1434T>A	7.37:g.11630106A>T	ENSP00000406482:p.Ser478Arg			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.S478R	ENST00000423059.4	37	c.1434	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	A	5.249	0.231446	0.09969	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.61510	0.1	5.8	2.65	0.31530	.	0.667620	0.17031	N	0.189730	T	0.40522	0.1120	L	0.48642	1.525	0.09310	N	1	B	0.22683	0.073	B	0.22601	0.04	T	0.23511	-1.0186	10	0.14252	T	0.57	.	1.0328	0.01542	0.3134:0.1565:0.3724:0.1577	.	478	Q9UPZ6	THS7A_HUMAN	R	478	ENSP00000406482:S478R	ENSP00000262042:S478R	S	-	3	2	THSD7A	11596631	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.242000	0.18087	0.205000	0.20568	0.533000	0.62120	AGT	THSD7A	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000005108		0.502	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	37	0.00	0	A	XM_928187.2		11630106	11630106	-1	no_errors	ENST00000423059	ensembl	human	known	69_37n	missense	29	21.62	8	SNP	0.000	T
THSD7B	80731	genome.wustl.edu	37	2	138373750	138373750	+	Silent	SNP	C	C	T			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr2:138373750C>T	ENST00000409968.1	+	18	3607	c.3429C>T	c.(3427-3429)tgC>tgT	p.C1143C	THSD7B_ENST00000272643.3_Silent_p.C1146C|THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.C1115C			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1145	TSP type-1 14. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)		p.C1146W(1)|p.C1115W(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AATAGTCATGCGATCCCCACA	0.413																																						dbGAP											2	Substitution - Missense(2)	lung(2)											102.0	106.0	105.0					2																	138373750		2056	4198	6254	-	-	-	SO:0001819	synonymous_variant	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3429C>T	2.37:g.138373750C>T				Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.C1146	ENST00000409968.1	37	c.3438		2																																																																																			THSD7B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000144229		0.413	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	20	0.00	0	C	XM_046570.9		138373750	138373750	+1	no_errors	ENST00000272643	ensembl	human	known	69_37n	silent	23	28.12	9	SNP	1.000	T
TINAG	27283	genome.wustl.edu	37	6	54214608	54214608	+	Missense_Mutation	SNP	C	C	T	rs35758529		TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr6:54214608C>T	ENST00000259782.4	+	7	1090	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	332					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R332W(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCGAGGAAAACGGCATGCCAC	0.458																																						dbGAP											1	Substitution - Missense(1)	kidney(1)											155.0	141.0	146.0					6																	54214608		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.994C>T	6.37:g.54214608C>T	ENSP00000259782:p.Arg332Trp		Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,smart_Peptidase_C1A_C,pfscan_Somatomedin_B_dom	p.R332W	ENST00000259782.4	37	c.994	CCDS4955.1	6	.	.	.	.	.	.	.	.	.	.	C	19.53	3.844446	0.71488	.	.	ENSG00000137251	ENST00000339741;ENST00000259782;ENST00000370865	D	0.84223	-1.82	5.87	2.73	0.32206	Peptidase C1A, papain C-terminal (2);	0.166795	0.41712	D	0.000836	D	0.89276	0.6669	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90114	0.4194	10	0.66056	D	0.02	.	12.9501	0.58394	0.4644:0.5356:0.0:0.0	.	332	Q9UJW2	TINAG_HUMAN	W	191;332;11	ENSP00000259782:R332W	ENSP00000259782:R332W	R	+	1	2	TINAG	54322567	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	0.888000	0.28268	0.758000	0.33059	0.591000	0.81541	CGG	TINAG	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C	ENSG00000137251		0.458	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TINAG	HGNC	protein_coding	OTTHUMT00000040984.1	29	0.00	0	C	NM_014464		54214608	54214608	+1	no_errors	ENST00000259782	ensembl	human	known	69_37n	missense	26	26.32	10	SNP	1.000	T
TMEM71	137835	genome.wustl.edu	37	8	133764157	133764157	+	Missense_Mutation	SNP	C	C	T	rs542588923		TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr8:133764157C>T	ENST00000356838.3	-	4	330	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Missense_Mutation_p.R63Q|TMEM71_ENST00000523829.1_Missense_Mutation_p.R63Q	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	63						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCTGGGACTTCGGCGACAGGT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		17747	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													122.0	115.0	117.0					8																	133764157		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057631	CCDS6366.1, CCDS47921.1	8q24.22	2005-09-02				ENSG00000165071			26572	protein-coding gene	gene with protein product						12477932	Standard	NM_144649		Approved	FLJ33069	uc003ytn.3	Q6P5X7		ENST00000356838.3:c.188G>A	8.37:g.133764157C>T	ENSP00000349296:p.Arg63Gln		Q3KRC2|Q8WVZ4|Q96LX9	Missense_Mutation	SNP	NULL	p.R63Q	ENST00000356838.3	37	c.188	CCDS6366.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.161444	0.94727	.	.	ENSG00000165071	ENST00000523829;ENST00000356838;ENST00000377901;ENST00000519187;ENST00000519304	.	.	.	5.81	4.94	0.65067	.	0.000000	0.64402	D	0.000002	T	0.70587	0.3241	M	0.77103	2.36	0.35981	D	0.836019	D;P;D	0.76494	0.999;0.681;0.996	P;B;P	0.56865	0.808;0.123;0.643	T	0.80410	-0.1394	9	0.72032	D	0.01	-5.413	12.2758	0.54735	0.0:0.9224:0.0:0.0776	.	63;63;63	Q6P5X7;Q6P5X7-3;Q6P5X7-2	TMM71_HUMAN;.;.	Q	63	.	ENSP00000349296:R63Q	R	-	2	0	TMEM71	133833339	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	3.099000	0.50267	1.461000	0.47929	0.655000	0.94253	CGA	TMEM71	-	NULL	ENSG00000165071		0.493	TMEM71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM71	HGNC	protein_coding	OTTHUMT00000379591.1	39	0.00	0	C	NM_144649		133764157	133764157	-1	no_errors	ENST00000356838	ensembl	human	known	69_37n	missense	59	21.33	16	SNP	1.000	T
TNS3	64759	genome.wustl.edu	37	7	47408046	47408046	+	Missense_Mutation	SNP	G	G	C			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr7:47408046G>C	ENST00000398879.1	-	17	2563	c.2197C>G	c.(2197-2199)Cca>Gca	p.P733A	TNS3_ENST00000311160.9_Missense_Mutation_p.P733A|TNS3_ENST00000355730.3_Missense_Mutation_p.P493A			Q68CZ2	TENS3_HUMAN	tensin 3	733					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ACGCTGTCTGGAGACACAGAG	0.662																																						dbGAP											0													79.0	91.0	88.0					7																	47408046		2029	4177	6206	-	-	-	SO:0001583	missense	0			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.2197C>G	7.37:g.47408046G>C	ENSP00000381854:p.Pro733Ala		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.P733A	ENST00000398879.1	37	c.2197	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	G	10.94	1.493748	0.26774	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.93859	-2.85;-2.85;-3.3;-2.93	4.84	2.96	0.34315	.	0.845843	0.10690	N	0.645346	D	0.87297	0.6142	L	0.32530	0.975	0.09310	N	1	B	0.30406	0.278	B	0.22386	0.039	T	0.78018	-0.2368	10	0.59425	D	0.04	-1.9144	6.5272	0.22307	0.1005:0.1837:0.7158:0.0	.	733	Q68CZ2	TENS3_HUMAN	A	733;843;733;493;189;836	ENSP00000312143:P733A;ENSP00000381854:P733A;ENSP00000347968:P493A;ENSP00000414358:P836A	ENSP00000312143:P733A	P	-	1	0	TNS3	47374571	0.078000	0.21339	0.003000	0.11579	0.080000	0.17528	1.610000	0.36869	0.502000	0.28037	0.655000	0.94253	CCA	TNS3	-	NULL	ENSG00000136205		0.662	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	25	0.00	0	G	NM_022748		47408046	47408046	-1	no_errors	ENST00000311160	ensembl	human	known	69_37n	missense	20	31.03	9	SNP	0.003	C
UBQLN3	50613	genome.wustl.edu	37	11	5529582	5529582	+	Missense_Mutation	SNP	T	T	G			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr11:5529582T>G	ENST00000311659.4	-	2	1354	c.1207A>C	c.(1207-1209)Atc>Ctc	p.I403L	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_5'Flank|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	403										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTCCCTTGATTGCTACTGAC	0.562																																					Ovarian(72;684 1260 12332 41642 52180)	dbGAP											0													125.0	129.0	128.0					11																	5529582		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1207A>C	11.37:g.5529582T>G	ENSP00000347997:p.Ile403Leu		Q9NRE0	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.I403L	ENST00000311659.4	37	c.1207	CCDS7758.1	11	.	.	.	.	.	.	.	.	.	.	T	9.360	1.067647	0.20067	.	.	ENSG00000175520	ENST00000311659	T	0.36699	1.24	4.89	2.62	0.31277	.	0.150857	0.30695	N	0.009075	T	0.32102	0.0818	M	0.78223	2.4	0.23063	N	0.998358	B	0.25312	0.123	B	0.21360	0.034	T	0.18085	-1.0348	10	0.18276	T	0.48	-24.9939	5.8136	0.18479	0.0:0.2057:0.0:0.7943	.	403	Q9H347	UBQL3_HUMAN	L	403	ENSP00000347997:I403L	ENSP00000347997:I403L	I	-	1	0	UBQLN3	5486158	0.206000	0.23470	0.745000	0.31077	0.409000	0.31022	0.186000	0.16978	0.995000	0.38917	0.533000	0.62120	ATC	UBQLN3	-	NULL	ENSG00000175520		0.562	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN3	HGNC	protein_coding	OTTHUMT00000143348.1	57	0.00	0	T	NM_017481		5529582	5529582	-1	no_errors	ENST00000311659	ensembl	human	known	69_37n	missense	79	10.11	9	SNP	0.606	G
VWA3A	146177	genome.wustl.edu	37	16	22122217	22122217	+	Silent	SNP	C	C	T			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr16:22122217C>T	ENST00000389398.5	+	8	687	c.591C>T	c.(589-591)atC>atT	p.I197I	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	197						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGAGCCTCATCGATGAGCAGC	0.607																																						dbGAP											0													84.0	87.0	86.0					16																	22122217		2043	4198	6241	-	-	-	SO:0001819	synonymous_variant	0			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.591C>T	16.37:g.22122217C>T			A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Silent	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.I197	ENST00000389398.5	37	c.591	CCDS45441.1	16																																																																																			VWA3A	-	NULL	ENSG00000175267		0.607	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	57	0.00	0	C			22122217	22122217	+1	no_errors	ENST00000389398	ensembl	human	known	69_37n	silent	91	16.51	18	SNP	0.692	T
ZCCHC11	23318	genome.wustl.edu	37	1	52891167	52891167	+	Missense_Mutation	SNP	C	C	T			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr1:52891167C>T	ENST00000371544.3	-	29	4983	c.4721G>A	c.(4720-4722)cGa>cAa	p.R1574Q	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1575Q	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1574	Pro-rich.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGTCAGTCCTCGAAAGCCTGG	0.428																																						dbGAP											0													55.0	55.0	55.0					1																	52891167		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4721G>A	1.37:g.52891167C>T	ENSP00000360599:p.Arg1574Gln		A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.R1575Q	ENST00000371544.3	37	c.4724	CCDS30716.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.45|13.45	2.242252|2.242252	0.39598|0.39598	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000494469;ENST00000471623|ENST00000257177;ENST00000371544	.|T;T	.|0.40476	.|1.03;1.04	4.79|4.79	2.77|2.77	0.32553|0.32553	.|.	.|0.770165	.|0.12525	.|N	.|0.461308	T|T	0.16854|0.16854	0.0405|0.0405	N|N	0.03608|0.03608	-0.345|-0.345	0.80722|0.80722	D|D	1|1	.|B	.|0.10296	.|0.003	.|B	.|0.04013	.|0.001	T|T	0.11421|0.11421	-1.0588|-1.0588	5|10	.|0.20519	.|T	.|0.43	.|.	4.4353|4.4353	0.11547|0.11547	0.0:0.2176:0.4695:0.3128|0.0:0.2176:0.4695:0.3128	.|.	.|1574	.|Q5TAX3	.|TUT4_HUMAN	K|Q	81;28|1575;1574	.|ENSP00000257177:R1575Q;ENSP00000360599:R1574Q	.|ENSP00000257177:R1575Q	E|R	-|-	1|2	0|0	ZCCHC11|ZCCHC11	52663755|52663755	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.906000|0.906000	0.53458|0.53458	2.841000|2.841000	0.48223|0.48223	1.265000|1.265000	0.44215|0.44215	0.305000|0.305000	0.20034|0.20034	GAG|CGA	ZCCHC11	-	NULL	ENSG00000134744		0.428	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	24	0.00	0	C	XM_038288		52891167	52891167	-1	no_errors	ENST00000257177	ensembl	human	known	69_37n	missense	14	60.00	21	SNP	1.000	T
ZFP69	339559	genome.wustl.edu	37	1	40961166	40961166	+	Missense_Mutation	SNP	G	G	A			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr1:40961166G>A	ENST00000372706.1	+	6	2022	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	ZFP69_ENST00000372705.3_Missense_Mutation_p.R339H|RP11-656D10.3_ENST00000450713.1_RNA			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	339					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										TTCAGACATCGCTCATCACTT	0.438																																						dbGAP											0													93.0	88.0	90.0					1																	40961166		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.1016G>A	1.37:g.40961166G>A	ENSP00000361791:p.Arg339His		Q5SWM5|Q6ZWK8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R339H	ENST00000372706.1	37	c.1016	CCDS30686.1	1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.853284	0.51270	.	.	ENSG00000187815	ENST00000372706;ENST00000372705	T;T	0.08370	3.1;3.1	4.65	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.44285	D	0.000475	T	0.12220	0.0297	L	0.31207	0.915	0.28245	N	0.925535	D	0.71674	0.998	P	0.55303	0.773	T	0.14615	-1.0466	10	0.14656	T	0.56	-12.6813	15.8405	0.78842	0.0:0.0:1.0:0.0	.	339	Q49AA0	ZN642_HUMAN	H	339	ENSP00000361791:R339H;ENSP00000361790:R339H	ENSP00000361790:R339H	R	+	2	0	ZNF642	40733753	0.000000	0.05858	1.000000	0.80357	0.997000	0.91878	0.149000	0.16243	2.854000	0.98071	0.655000	0.94253	CGC	ZNF642	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000187815		0.438	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF642	HGNC	protein_coding	OTTHUMT00000019082.1	27	0.00	0	G	NM_198494		40961166	40961166	+1	no_errors	ENST00000372705	ensembl	human	known	69_37n	missense	19	42.42	14	SNP	1.000	A
ZNF281	23528	genome.wustl.edu	37	1	200377724	200377724	+	Silent	SNP	G	G	C			TCGA-AQ-A0Y5-01A-11D-A14K-09	TCGA-AQ-A0Y5-10A-01D-A17G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	4aa80fbd-a337-49b6-9371-223cbcfbc85d	d116ee66-1d8f-4319-b8d6-be4213550093	g.chr1:200377724G>C	ENST00000294740.3	-	2	1234	c.1110C>G	c.(1108-1110)gtC>gtG	p.V370V	ZNF281_ENST00000367352.3_Silent_p.V334V|ZNF281_ENST00000367353.1_Silent_p.V370V	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281	370					embryonic body morphogenesis (GO:0010172)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter binding (GO:0001047)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CTTTAACTATGACTTCACCAC	0.433																																						dbGAP											0													132.0	135.0	134.0					1																	200377724		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF125158	CCDS1402.1, CCDS60384.1	1q32.1	2012-08-08			ENSG00000162702	ENSG00000162702		"""Zinc fingers, C2H2-type"""	13075	protein-coding gene	gene with protein product						10448078	Standard	NM_012482		Approved	ZBP-99	uc001gve.3	Q9Y2X9	OTTHUMG00000035724	ENST00000294740.3:c.1110C>G	1.37:g.200377724G>C			A6NF48|B3KMX2|Q5RKW5|Q9NY92	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V370	ENST00000294740.3	37	c.1110	CCDS1402.1	1																																																																																			ZNF281	-	NULL	ENSG00000162702		0.433	ZNF281-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF281	HGNC	protein_coding	OTTHUMT00000086879.2	52	0.00	0	G	NM_012482		200377724	200377724	-1	no_errors	ENST00000294740	ensembl	human	known	69_37n	silent	50	15.25	9	SNP	1.000	C
