#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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ADAM32	203102	genome.wustl.edu	37	8	39142357	39142357	+	3'UTR	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr8:39142357C>T	ENST00000379907.4	+	0	2530				ADAM32_ENST00000524303.1_3'UTR|ADAM32_ENST00000519315.1_3'UTR|ADAM32_ENST00000437682.2_3'UTR	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32							integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TCGAGAGTCTCGCTAAGAAAT	0.408																																																	0													102.0	94.0	96.0					8																	39142357		1898	4120	6018	SO:0001624	3_prime_UTR_variant	203102			BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.*39C>T	8.37:g.39142357C>T			Q8TC42	RNA	SNP	-	NULL	ENST00000379907.4	37	NULL	CCDS47846.1	8																																																																																			ADAM32	-	-		0.408	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM32	HGNC	protein_coding	OTTHUMT00000377089.1	C	NM_145004		39142357	+1	no_errors	ENST00000524303	ensembl	human	known	70_37	rna	SNP	0.908	T
AGFG2	3268	genome.wustl.edu	37	7	100146506	100146506	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr7:100146506G>A	ENST00000300176.4	+	2	405	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K	AGFG2_ENST00000262935.4_Missense_Mutation_p.E95K	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	95	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CACTGAGCCTGAAGTAGTATT	0.498																																																	0													126.0	101.0	110.0					7																	100146506		2203	4300	6503	SO:0001583	missense	3268			AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.283G>A	7.37:g.100146506G>A	ENSP00000300176:p.Glu95Lys		O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.E95K	ENST00000300176.4	37	c.283	CCDS5697.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.677581	0.96764	.	.	ENSG00000106351	ENST00000300176;ENST00000262935	T;T	0.45276	0.9;0.9	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.73202	0.3557	M	0.91663	3.23	0.54753	D	0.999987	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.997	T	0.78280	-0.2265	10	0.87932	D	0	-18.6473	18.0773	0.89431	0.0:0.0:1.0:0.0	.	95;95	O95081-2;O95081	.;AGFG2_HUMAN	K	95	ENSP00000300176:E95K;ENSP00000262935:E95K	ENSP00000262935:E95K	E	+	1	0	AGFG2	99984442	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	8.944000	0.92980	2.870000	0.98441	0.638000	0.83543	GAA	AGFG2	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.498	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGFG2	HGNC	protein_coding	OTTHUMT00000342769.1	G	NM_006076		100146506	+1	no_errors	ENST00000300176	ensembl	human	known	70_37	missense	SNP	1.000	A
ALDH8A1	64577	genome.wustl.edu	37	6	135254073	135254073	+	Silent	SNP	G	G	A	rs138741870	byFrequency	TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr6:135254073G>A	ENST00000265605.2	-	5	758	c.690C>T	c.(688-690)acC>acT	p.T230T	ALDH8A1_ENST00000367847.2_Silent_p.T180T|ALDH8A1_ENST00000367845.2_Silent_p.T230T	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	230					9-cis-retinoic acid biosynthetic process (GO:0042904)|retinal metabolic process (GO:0042574)|retinoic acid metabolic process (GO:0042573)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	retinal dehydrogenase activity (GO:0001758)	p.T230T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		GCTGGCTCCCGGTGAAGGAGA	0.622																																																	1	Substitution - coding silent(1)	endometrium(1)						G	,,	1,4405	2.1+/-5.4	0,1,2202	44.0	47.0	46.0		540,690,690	-10.9	0.4	6	dbSNP_134	46	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	ALDH8A1	NM_001193480.1,NM_022568.3,NM_170771.2	,,	0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231	,,	180/438,230/488,230/434	135254073	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	64577			AL021939	CCDS5171.1, CCDS5172.1, CCDS55057.1	6q24.1-q25.1	2008-07-03			ENSG00000118514	ENSG00000118514		"""Aldehyde dehydrogenases"""	15471	protein-coding gene	gene with protein product		606467				11007799	Standard	NM_001193480		Approved	ALDH12	uc003qew.3	Q9H2A2	OTTHUMG00000015623	ENST00000265605.2:c.690C>T	6.37:g.135254073G>A			B7Z521|O60793|Q24JS9|Q53GT3|Q5TI80	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.T230	ENST00000265605.2	37	c.690	CCDS5171.1	6																																																																																			ALDH8A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.622	ALDH8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH8A1	HGNC	protein_coding	OTTHUMT00000042334.2	G			135254073	-1	no_errors	ENST00000265605	ensembl	human	known	70_37	silent	SNP	0.053	A
AKAP12	9590	genome.wustl.edu	37	6	151673794	151673794	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr6:151673794C>T	ENST00000253332.1	+	3	4457	c.4268C>T	c.(4267-4269)gCg>gTg	p.A1423V	AKAP12_ENST00000354675.6_Missense_Mutation_p.A1325V|AKAP12_ENST00000359755.5_Missense_Mutation_p.A1318V|AKAP12_ENST00000402676.2_Missense_Mutation_p.A1423V			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1423					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		ACTCTAACAGCGGCTGCAGAG	0.483																																					Melanoma(141;1616 1805 10049 24534 51979)												0													78.0	81.0	80.0					6																	151673794		2203	4300	6503	SO:0001583	missense	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.4268C>T	6.37:g.151673794C>T	ENSP00000253332:p.Ala1423Val		O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.A1423V	ENST00000253332.1	37	c.4268	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	C	9.540	1.113041	0.20795	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.12569	2.67;2.67;2.68;2.68	4.86	3.0	0.34707	.	1.234910	0.06340	N	0.707813	T	0.02533	0.0077	N	0.20986	0.625	0.09310	N	1	B;B;B	0.30021	0.265;0.078;0.173	B;B;B	0.23852	0.049;0.049;0.022	T	0.45804	-0.9236	10	0.27785	T	0.31	.	5.0852	0.14678	0.1624:0.6557:0.0:0.182	.	1318;1325;1423	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	V	1423;1423;1325;1318	ENSP00000384537:A1423V;ENSP00000253332:A1423V;ENSP00000346702:A1325V;ENSP00000352794:A1318V	ENSP00000253332:A1423V	A	+	2	0	AKAP12	151715487	0.019000	0.18553	0.003000	0.11579	0.035000	0.12851	0.212000	0.17497	0.513000	0.28278	0.650000	0.86243	GCG	AKAP12	-	NULL		0.483	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	C			151673794	+1	no_errors	ENST00000253332	ensembl	human	known	70_37	missense	SNP	0.027	T
ATP8B5P	158381	genome.wustl.edu	37	9	35480057	35480057	+	IGR	SNP	T	T	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr9:35480057T>A								ATP8B5P (28945 upstream) : RUSC2 (58571 downstream)																							GAATGAGACATGGAGCCTCCA	0.502																																																	0																																										SO:0001628	intergenic_variant	158381																															9.37:g.35480057T>A				RNA	SNP	-	NULL		37	NULL		9																																																																																			ATP8B5P	-	-	0	0.502					ATP8B5P	HGNC			T			35480057	+1	no_errors	ENST00000329395	ensembl	human	known	70_37	rna	SNP	1.000	A
AXIN1	8312	genome.wustl.edu	37	16	348162	348162	+	Silent	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr16:348162C>T	ENST00000262320.3	-	6	1715	c.1344G>A	c.(1342-1344)ccG>ccA	p.P448P	AXIN1_ENST00000354866.3_Silent_p.P448P|AXIN1_ENST00000481769.1_5'UTR	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	448	Interaction with CTNNB1. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CACAGCGGGGCGGGAAGTGGT	0.672											OREG0003699	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													8.0	6.0	7.0					16																	348162		2118	4165	6283	SO:0001819	synonymous_variant	8312			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.1344G>A	16.37:g.348162C>T		587	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.P448	ENST00000262320.3	37	c.1344	CCDS10405.1	16																																																																																			AXIN1	-	NULL		0.672	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXIN1	HGNC	protein_coding	OTTHUMT00000139441.3	C			348162	-1	no_errors	ENST00000262320	ensembl	human	known	70_37	silent	SNP	0.018	T
CACNA1S	779	genome.wustl.edu	37	1	201031086	201031086	+	Silent	SNP	G	G	A	rs139235699	byFrequency	TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr1:201031086G>A	ENST00000362061.3	-	24	3265	c.3039C>T	c.(3037-3039)ttC>ttT	p.F1013F	CACNA1S_ENST00000367338.3_Silent_p.F1013F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1013	Dihydropyridine binding. {ECO:0000250}.				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)	GCCATCCCTCGAAGGTGGAGA	0.607																																																	0								G		2,4404	4.2+/-10.8	0,2,2201	117.0	87.0	97.0		3039	1.0	1.0	1	dbSNP_134	97	0,8600		0,0,4300	no	coding-synonymous	CACNA1S	NM_000069.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		1013/1874	201031086	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	779			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.3039C>T	1.37:g.201031086G>A			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.F1013	ENST00000362061.3	37	c.3039	CCDS1407.1	1																																																																																			CACNA1S	-	pfam_Ion_trans_dom		0.607	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	G	NM_000069		201031086	-1	no_errors	ENST00000362061	ensembl	human	known	70_37	silent	SNP	0.997	A
CDH18	1016	genome.wustl.edu	37	5	19839103	19839103	+	5'UTR	SNP	T	T	A	rs560727731		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr5:19839103T>A	ENST00000507958.1	-	0	983				CDH18_ENST00000382275.1_5'UTR|CDH18_ENST00000506372.1_5'UTR|CDH18_ENST00000274170.4_5'UTR|CDH18_ENST00000511273.1_5'UTR|CDH18_ENST00000502796.1_5'UTR			Q13634	CAD18_HUMAN	cadherin 18, type 2						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CATTGTAAGATAACTTTCCAG	0.438																																																	0													106.0	87.0	94.0					5																	19839103		2203	4300	6503	SO:0001623	5_prime_UTR_variant	1016			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.-8A>T	5.37:g.19839103T>A			A8K0I2|B4DHG6|Q8N5Z2	RNA	SNP	-	NULL	ENST00000507958.1	37	NULL	CCDS3889.1	5																																																																																			CDH18	-	-		0.438	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CDH18	HGNC	protein_coding	OTTHUMT00000366747.1	T	NM_004934		19839103	-1	no_errors	ENST00000511423	ensembl	human	known	70_37	rna	SNP	0.863	A
CDH10	1008	genome.wustl.edu	37	5	24509922	24509922	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr5:24509922C>T	ENST00000264463.4	-	7	1516	c.1009G>A	c.(1009-1011)Gac>Aac	p.D337N		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	337	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D337N(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		CTCTCATAGTCGAGTGGCTGT	0.373										HNSCC(23;0.051)																																							1	Substitution - Missense(1)	large_intestine(1)											48.0	50.0	49.0					5																	24509922		2203	4300	6503	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1009G>A	5.37:g.24509922C>T	ENSP00000264463:p.Asp337Asn		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D337N	ENST00000264463.4	37	c.1009	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	19.38	3.816372	0.70912	.	.	ENSG00000040731	ENST00000264463	T	0.63417	-0.04	5.2	5.2	0.72013	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.84683	2.71	0.53688	D	0.999976	P	0.52692	0.955	P	0.45639	0.488	T	0.77925	-0.2405	10	0.54805	T	0.06	.	18.0841	0.89452	0.0:1.0:0.0:0.0	.	337	Q9Y6N8	CAD10_HUMAN	N	337	ENSP00000264463:D337N	ENSP00000264463:D337N	D	-	1	0	CDH10	24545679	1.000000	0.71417	1.000000	0.80357	0.430000	0.31655	7.432000	0.80349	2.595000	0.87683	0.561000	0.74099	GAC	CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.373	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	C	NM_006727		24509922	-1	no_errors	ENST00000264463	ensembl	human	known	70_37	missense	SNP	1.000	T
CECR2	27443	genome.wustl.edu	37	22	18022454	18022454	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr22:18022454G>T	ENST00000400585.2	+	16	2571	c.2133G>T	c.(2131-2133)caG>caT	p.Q711H	CECR2_ENST00000400573.5_Missense_Mutation_p.Q852H|CECR2_ENST00000262608.8_Missense_Mutation_p.Q853H			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	894					apoptotic DNA fragmentation (GO:0006309)|ATP-dependent chromatin remodeling (GO:0043044)|cytokinesis (GO:0000910)|cytoskeleton organization (GO:0007010)|execution phase of apoptosis (GO:0097194)|neural tube development (GO:0021915)|vesicle-mediated transport (GO:0016192)	CERF complex (GO:0090537)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGGGGGTGCAGGGAGGGGACT	0.642																																																	0													49.0	55.0	53.0					22																	18022454		2013	4173	6186	SO:0001583	missense	27443			AF336133		22q11.2	2012-04-19			ENSG00000099954	ENSG00000099954			1840	protein-coding gene	gene with protein product		607576				11381032	Standard	XM_006724077		Approved	KIAA1740	uc002zml.2	Q9BXF3	OTTHUMG00000150072	ENST00000400585.2:c.2133G>T	22.37:g.18022454G>T	ENSP00000383428:p.Gln711His		A8MS90|A8MX16|Q658Z4|Q96P58|Q9C0C3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.Q852H	ENST00000400585.2	37	c.2556		22	.	.	.	.	.	.	.	.	.	.	G	11.45	1.642872	0.29246	.	.	ENSG00000099954	ENST00000400585;ENST00000400573;ENST00000262608	T;T;T	0.29397	1.7;1.69;1.57	5.11	-5.36	0.02689	.	0.124101	0.36167	N	0.002746	T	0.22936	0.0554	L	0.60455	1.87	0.18873	N	0.999984	B;B;B	0.11235	0.002;0.004;0.002	B;B;B	0.08055	0.002;0.003;0.001	T	0.17868	-1.0355	10	0.62326	D	0.03	-3.3879	8.6996	0.34318	0.6405:0.0:0.2582:0.1013	.	894;711;852	Q9BXF3;B7WPH3;E2QRE6	CECR2_HUMAN;.;.	H	711;852;853	ENSP00000383428:Q711H;ENSP00000383417:Q852H;ENSP00000262608:Q853H	ENSP00000262608:Q853H	Q	+	3	2	CECR2	16402454	0.711000	0.27906	0.002000	0.10522	0.895000	0.52256	-0.052000	0.11865	-0.893000	0.03930	0.561000	0.74099	CAG	CECR2	-	NULL		0.642	CECR2-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	CECR2	HGNC	protein_coding	OTTHUMT00000316226.2	G	NM_031413		18022454	+1	no_errors	ENST00000400573	ensembl	human	novel	70_37	missense	SNP	0.025	T
CLTCL1	8218	genome.wustl.edu	37	22	19210232	19210232	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr22:19210232C>G	ENST00000263200.10	-	15	2465	c.2393G>C	c.(2392-2394)aGg>aCg	p.R798T	CLTCL1_ENST00000427926.1_Missense_Mutation_p.R798T|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R798T	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	798	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CTCAATGTACCTCTGCAGGTT	0.552			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	0													91.0	97.0	95.0					22																	19210232		2066	4201	6267	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2393G>C	22.37:g.19210232C>G	ENSP00000445677:p.Arg798Thr		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.R798T	ENST00000263200.10	37	c.2393	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	11.69	1.715336	0.30413	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.26373	1.74;1.74;1.74	3.89	2.84	0.33178	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.061433	0.64402	D	0.000006	T	0.19087	0.0458	L	0.31476	0.935	0.32861	D	0.508005	B;B	0.25312	0.101;0.123	B;B	0.31686	0.053;0.134	T	0.15694	-1.0428	10	0.46703	T	0.11	-15.1631	8.4031	0.32599	0.0:0.0981:0.0:0.9019	.	798;798	P53675-2;P53675	.;CLH2_HUMAN	T	798	ENSP00000439662:R798T;ENSP00000445677:R798T;ENSP00000441158:R798T	ENSP00000445677:R798T	R	-	2	0	CLTCL1	17590232	1.000000	0.71417	1.000000	0.80357	0.072000	0.16883	5.423000	0.66458	0.566000	0.29273	-0.379000	0.06801	AGG	CLTCL1	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.552	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	C	NM_007098		19210232	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	missense	SNP	1.000	G
COL15A1	1306	genome.wustl.edu	37	9	101748164	101748164	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr9:101748164G>T	ENST00000375001.3	+	3	841	c.418G>T	c.(418-420)Gag>Tag	p.E140*		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	140	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTACTACACGGAGCCAGGCTC	0.607																																																	0													101.0	94.0	97.0					9																	101748164		2203	4300	6503	SO:0001587	stop_gained	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.418G>T	9.37:g.101748164G>T	ENSP00000364140:p.Glu140*		Q5T6J4|Q9UDC5|Q9Y4W4	Nonsense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.E140*	ENST00000375001.3	37	c.418	CCDS35081.1	9	.	.	.	.	.	.	.	.	.	.	G	38	7.170928	0.98111	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	.	.	.	5.25	5.25	0.73442	.	0.051896	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-22.6961	16.6967	0.85337	0.0:0.0:1.0:0.0	.	.	.	.	X	140;110	.	ENSP00000364140:E140X	E	+	1	0	COL15A1	100787985	1.000000	0.71417	0.992000	0.48379	0.547000	0.35210	9.813000	0.99286	2.608000	0.88229	0.650000	0.86243	GAG	COL15A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.607	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	G	NM_001855		101748164	+1	no_errors	ENST00000375001	ensembl	human	known	70_37	nonsense	SNP	1.000	T
COL4A2	1284	genome.wustl.edu	37	13	111109251	111109251	+	Intron	SNP	G	G	A	rs370055942		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr13:111109251G>A	ENST00000360467.5	+	21	1645				COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2						angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GATGCCGTGCGTCTGCGTGGG	0.731																																																	0																																										SO:0001627	intron_variant	100129836			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1340-439G>A	13.37:g.111109251G>A			Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	NULL	p.R272C	ENST00000360467.5	37	c.814	CCDS41907.1	13	.	.	.	.	.	.	.	.	.	.	-	10.72	1.429751	0.25726	.	.	ENSG00000224821	ENST00000458403	.	.	.	1.24	1.24	0.21308	.	.	.	.	.	T	0.39091	0.1065	.	.	.	0.23813	N	0.99677	.	.	.	.	.	.	T	0.30592	-0.9973	5	0.46703	T	0.11	.	8.3065	0.32045	0.0:0.0:1.0:0.0	.	.	.	.	M	311	.	ENSP00000390212:T311M	T	-	2	0	COL4A2-AS2	109907252	0.001000	0.12720	0.015000	0.15790	0.007000	0.05969	0.428000	0.21395	0.525000	0.28522	0.205000	0.17691	ACG	COL4A2-AS2	-	NULL		0.731	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A2-AS2	HGNC	protein_coding	OTTHUMT00000045761.2	G	NM_001846		111109251	-1	no_errors	ENST00000599516	ensembl	human	known	70_37	missense	SNP	0.337	A
COL8A1	1295	genome.wustl.edu	37	3	99513685	99513685	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:99513685G>A	ENST00000261037.3	+	5	1320	c.940G>A	c.(940-942)Gga>Aga	p.G314R	COL8A1_ENST00000273342.4_Missense_Mutation_p.G314R	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	314	Triple-helical region (COL1).				angiogenesis (GO:0001525)|camera-type eye morphogenesis (GO:0048593)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen type VIII trimer (GO:0005591)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TGGGATACCCGGAATTGGAAA	0.657																																																	0													23.0	28.0	26.0					3																	99513685		2200	4300	6500	SO:0001583	missense	1295			AF170702	CCDS2934.1	3q11.1-q13.2	2013-01-16			ENSG00000144810	ENSG00000144810		"""Collagens"""	2215	protein-coding gene	gene with protein product		120251	"""chromosome 3 open reading frame 7"""	C3orf7		2029894	Standard	NM_001850		Approved	MGC9568	uc003dth.2	P27658	OTTHUMG00000148669	ENST00000261037.3:c.940G>A	3.37:g.99513685G>A	ENSP00000261037:p.Gly314Arg		D3DN42|Q53XI6|Q96D07	Missense_Mutation	SNP	pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.G314R	ENST00000261037.3	37	c.940	CCDS2934.1	3	.	.	.	.	.	.	.	.	.	.	G	17.04	3.285968	0.59867	.	.	ENSG00000144810	ENST00000261037;ENST00000273342	D;D	0.99429	-5.89;-5.89	5.82	5.82	0.92795	.	0.047596	0.85682	N	0.000000	D	0.99609	0.9858	M	0.90814	3.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98225	1.0480	10	0.72032	D	0.01	.	17.5966	0.88013	0.0:0.0:1.0:0.0	.	315;314	E7EPK9;P27658	.;CO8A1_HUMAN	R	314	ENSP00000261037:G314R;ENSP00000273342:G314R	ENSP00000261037:G314R	G	+	1	0	COL8A1	100996375	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.864000	0.99589	2.756000	0.94617	0.655000	0.94253	GGA	COL8A1	-	NULL		0.657	COL8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL8A1	HGNC	protein_coding	OTTHUMT00000309001.1	G	NM_001850		99513685	+1	no_errors	ENST00000261037	ensembl	human	known	70_37	missense	SNP	1.000	A
CREB3L3	84699	genome.wustl.edu	37	19	4157289	4157289	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr19:4157289C>A	ENST00000078445.2	+	3	601	c.454C>A	c.(454-456)Ctg>Atg	p.L152M	CREB3L3_ENST00000602257.1_Missense_Mutation_p.L152M|CREB3L3_ENST00000595923.1_Missense_Mutation_p.L151M|CREB3L3_ENST00000602147.1_Missense_Mutation_p.L152M|CREB3L3_ENST00000252587.3_Intron	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	152					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCATAGACCTGGGTGAGTC	0.592																																																	0													81.0	83.0	82.0					19																	4157289		2203	4300	6503	SO:0001583	missense	84699				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.454C>A	19.37:g.4157289C>A	ENSP00000078445:p.Leu152Met		B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.L152M	ENST00000078445.2	37	c.454	CCDS12121.1	19	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834340	0.32421	.	.	ENSG00000060566	ENST00000078445;ENST00000381943	D	0.85411	-1.98	5.13	1.65	0.23941	.	0.349495	0.27306	N	0.019961	D	0.88555	0.6468	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.67145	0.996;0.989;0.993;0.989	D;P;P;P	0.67725	0.953;0.768;0.858;0.726	D	0.84372	0.0544	10	0.46703	T	0.11	-9.3093	4.8436	0.13503	0.0:0.6203:0.1741:0.2056	.	152;152;151;152	Q68CJ9-3;B7ZL69;Q68CJ9-2;Q68CJ9	.;.;.;CR3L3_HUMAN	M	152	ENSP00000078445:L152M	ENSP00000078445:L152M	L	+	1	2	CREB3L3	4108289	0.980000	0.34600	1.000000	0.80357	0.216000	0.24613	-0.059000	0.11731	0.144000	0.18951	-0.450000	0.05554	CTG	CREB3L3	-	NULL		0.592	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB3L3	HGNC	protein_coding	OTTHUMT00000457922.1	C	NM_032607		4157289	+1	no_errors	ENST00000078445	ensembl	human	known	70_37	missense	SNP	1.000	A
CRYL1	51084	genome.wustl.edu	37	13	20978341	20978341	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr13:20978341G>T	ENST00000298248.7	-	8	949	c.887C>A	c.(886-888)gCt>gAt	p.A296D	CRYL1_ENST00000382812.1_Missense_Mutation_p.A274D	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	296					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CCTCCTGGCAGCTAAGTGCTC	0.478																																																	0													78.0	80.0	80.0					13																	20978341		1998	4178	6176	SO:0001583	missense	51084			AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"""crystallin, lamda 1"", ""L-gulonate 3-dehydrogenase"", ""lambda-crystallin homolog"""	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.887C>A	13.37:g.20978341G>T	ENSP00000298248:p.Ala296Asp		A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Missense_Mutation	SNP	pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.A296D	ENST00000298248.7	37	c.887	CCDS41871.1	13	.	.	.	.	.	.	.	.	.	.	G	7.193	0.591925	0.13812	.	.	ENSG00000165475	ENST00000298248;ENST00000382812	T;T	0.70399	-0.39;-0.48	5.83	1.97	0.26223	.	0.410287	0.30252	N	0.010047	T	0.50154	0.1599	L	0.33485	1.01	0.40151	D	0.976957	B	0.13145	0.007	B	0.06405	0.002	T	0.22626	-1.0211	10	0.15952	T	0.53	-10.5426	3.8787	0.09068	0.0776:0.1321:0.4073:0.383	.	296	Q9Y2S2	CRYL1_HUMAN	D	296;274	ENSP00000298248:A296D;ENSP00000372262:A274D	ENSP00000298248:A296D	A	-	2	0	CRYL1	19876341	0.869000	0.29996	0.945000	0.38365	0.321000	0.28281	1.819000	0.39022	0.376000	0.24707	-0.310000	0.09108	GCT	CRYL1	-	NULL		0.478	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYL1	HGNC	protein_coding	OTTHUMT00000044071.1	G	NM_015974		20978341	-1	no_errors	ENST00000298248	ensembl	human	known	70_37	missense	SNP	0.915	T
CSMD2	114784	genome.wustl.edu	37	1	34099119	34099119	+	Silent	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr1:34099119G>A	ENST00000373380.1	-	11	1942	c.1722C>T	c.(1720-1722)ttC>ttT	p.F574F	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373381.4_Silent_p.F1701F			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1661	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAAAGAAGGCGAACTGGCCAA	0.647											OREG0013348	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													40.0	26.0	31.0					1																	34099119		2143	4210	6353	SO:0001819	synonymous_variant	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1722C>T	1.37:g.34099119G>A		845	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.F1701	ENST00000373380.1	37	c.5103		1																																																																																			CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.647	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	G	NM_052896		34099119	-1	no_errors	ENST00000373381	ensembl	human	known	70_37	silent	SNP	0.723	A
DGKZ	8525	genome.wustl.edu	37	11	46397639	46397639	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr11:46397639G>T	ENST00000454345.1	+	23	2724	c.2599G>T	c.(2599-2601)Gtc>Ttc	p.V867F	DGKZ_ENST00000421244.2_Missense_Mutation_p.V679F|DGKZ_ENST00000456247.2_Missense_Mutation_p.V678F|DGKZ_ENST00000527911.1_Missense_Mutation_p.V679F|DGKZ_ENST00000343674.6_Missense_Mutation_p.V695F|DGKZ_ENST00000395574.3_Missense_Mutation_p.V645F|DGKZ_ENST00000528615.1_Missense_Mutation_p.V457F|DGKZ_ENST00000318201.8_Missense_Mutation_p.V656F|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Missense_Mutation_p.V683F|MIR4688_ENST00000577966.1_RNA	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	867					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CACTGTGGTGGTCCCAGGAGA	0.672																																																	0													54.0	58.0	57.0					11																	46397639		2202	4299	6501	SO:0001583	missense	8525			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.2599G>T	11.37:g.46397639G>T	ENSP00000412178:p.Val867Phe		B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.V867F	ENST00000454345.1	37	c.2599	CCDS41640.1	11	.	.	.	.	.	.	.	.	.	.	G	17.99	3.522276	0.64747	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T	0.30981	2.13;2.38;2.35;2.4;3.31;2.15;2.22;2.35;1.51	4.87	3.95	0.45737	.	0.060835	0.64402	N	0.000004	T	0.27594	0.0678	L	0.37697	1.125	0.80722	D	1	B;B;B;B;B;B;B;B;B	0.31859	0.121;0.121;0.343;0.054;0.121;0.086;0.037;0.136;0.197	B;B;B;B;B;B;B;B;B	0.32762	0.072;0.072;0.109;0.049;0.114;0.152;0.105;0.076;0.114	T	0.13124	-1.0521	10	0.87932	D	0	.	14.7942	0.69865	0.0:0.0:0.8542:0.1457	.	656;644;622;679;867;678;679;645;695	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	F	695;457;645;644;679;678;679;656;867	ENSP00000343065:V695F;ENSP00000434719:V457F;ENSP00000378941:V645F;ENSP00000436273:V644F;ENSP00000436291:V679F;ENSP00000395684:V678F;ENSP00000391021:V679F;ENSP00000320340:V656F;ENSP00000412178:V867F	ENSP00000320340:V656F	V	+	1	0	DGKZ	46354215	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.270000	0.78493	1.177000	0.42855	0.462000	0.41574	GTC	DGKZ	-	NULL		0.672	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	HGNC	protein_coding	OTTHUMT00000389772.1	G	NM_001105540		46397639	+1	no_errors	ENST00000454345	ensembl	human	known	70_37	missense	SNP	1.000	T
DOPEY2	9980	genome.wustl.edu	37	21	37618844	37618844	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr21:37618844G>C	ENST00000399151.3	+	19	4651	c.4566G>C	c.(4564-4566)ttG>ttC	p.L1522F		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1522					cognition (GO:0050890)|endoplasmic reticulum organization (GO:0007029)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGGTGAGCTTGGTCACGCATT	0.592																																																	0													72.0	68.0	69.0					21																	37618844		2203	4300	6503	SO:0001583	missense	9980			AJ237839	CCDS13643.1	21q22.2	2013-03-05	2006-02-02	2006-02-02	ENSG00000142197	ENSG00000142197			1291	protein-coding gene	gene with protein product		604803	"""chromosome 21 open reading frame 5"""	C21orf5		16301316, 16303751, 10931277	Standard	NM_005128		Approved	KIAA0933	uc002yvg.3	Q9Y3R5	OTTHUMG00000086619	ENST00000399151.3:c.4566G>C	21.37:g.37618844G>C	ENSP00000382104:p.Leu1522Phe		D3DSG5|Q6PJQ7|Q9UEZ3	Missense_Mutation	SNP	pfam_Dopey_N	p.L1522F	ENST00000399151.3	37	c.4566	CCDS13643.1	21	.	.	.	.	.	.	.	.	.	.	G	18.89	3.718560	0.68844	.	.	ENSG00000142197	ENST00000399151	T	0.42131	0.98	5.86	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.58524	0.2128	M	0.62266	1.93	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.55250	-0.8170	10	0.22109	T	0.4	.	12.844	0.57819	0.1356:0.0:0.8644:0.0	.	1522;1522	Q9Y3R5-2;Q9Y3R5	.;DOP2_HUMAN	F	1522	ENSP00000382104:L1522F	ENSP00000382104:L1522F	L	+	3	2	DOPEY2	36540714	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	3.505000	0.53356	1.480000	0.48289	0.655000	0.94253	TTG	DOPEY2	-	NULL		0.592	DOPEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY2	HGNC	protein_coding	OTTHUMT00000194636.1	G	NM_005128		37618844	+1	no_errors	ENST00000399151	ensembl	human	known	70_37	missense	SNP	1.000	C
DSCAML1	57453	genome.wustl.edu	37	11	117395799	117395799	+	Splice_Site	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr11:117395799C>T	ENST00000321322.6	-	5	840		c.e5-1		DSCAML1_ENST00000527706.1_Intron	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1						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)		TCAGCAGGGTCTGGAAGGCAG	0.687																																																	0													11.0	8.0	9.0					11																	117395799		2155	4230	6385	SO:0001630	splice_region_variant	57453				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.839-1G>A	11.37:g.117395799C>T			Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Splice_Site	SNP	-	e5-1	ENST00000321322.6	37	c.839-1	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	26.7	4.758332	0.89843	.	.	ENSG00000177103	ENST00000321322	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.1313	0.89602	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DSCAML1	116901009	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.595000	0.82710	2.531000	0.85337	0.555000	0.69702	.	DSCAML1	-	-		0.687	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	C	NM_020693	Intron	117395799	-1	no_errors	ENST00000321322	ensembl	human	known	70_37	splice_site	SNP	1.000	T
ENPP2	5168	genome.wustl.edu	37	8	120628593	120628593	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr8:120628593C>A	ENST00000075322.6	-	8	747	c.689G>T	c.(688-690)gGc>gTc	p.G230V	ENPP2_ENST00000259486.6_Missense_Mutation_p.G230V|ENPP2_ENST00000427067.2_Missense_Mutation_p.G226V|ENPP2_ENST00000522826.1_Missense_Mutation_p.G230V	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	230					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			CATTGAATTGCCAACAATTCC	0.353																																					Melanoma(20;305 879 2501 4818 31020)												0													98.0	90.0	93.0					8																	120628593		2203	4300	6503	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.689G>T	8.37:g.120628593C>A	ENSP00000075322:p.Gly230Val		A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.G230V	ENST00000075322.6	37	c.689	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302052	0.81136	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522826;ENST00000075322;ENST00000520066	T;T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34;-1.34	5.55	5.55	0.83447	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.093945	0.64402	D	0.000001	D	0.90287	0.6962	M	0.78223	2.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.90871	0.4746	10	0.72032	D	0.01	.	19.5156	0.95162	0.0:1.0:0.0:0.0	.	230;230;230	E9PHP7;Q13822;Q13822-2	.;ENPP2_HUMAN;.	V	230;226;230;230;212	ENSP00000259486:G230V;ENSP00000403315:G226V;ENSP00000428291:G230V;ENSP00000075322:G230V;ENSP00000428304:G212V	ENSP00000075322:G230V	G	-	2	0	ENPP2	120697774	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.958000	0.63660	2.605000	0.88082	0.563000	0.77884	GGC	ENPP2	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.353	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	C			120628593	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	missense	SNP	1.000	A
DPP6	1804	genome.wustl.edu	37	7	153757799	153757800	+	Intron	INS	-	-	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr7:153757799_153757800insA	ENST00000377770.3	+	1	384				AC006019.3_ENST00000425591.1_RNA|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000406326.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6						cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			acccccatcgcagggggggagg	0.693																																					NSCLC(125;1384 1783 2490 7422 34254)												0																																										SO:0001627	intron_variant	0			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.243+7651->A	7.37:g.153757800_153757800dupA				RNA	INS	-	NULL	ENST00000377770.3	37	NULL		7																																																																																			AC006019.3	-	-		0.693	DPP6-003	KNOWN	basic|appris_principal	protein_coding	ENSG00000203335	Clone_based_vega_gene	protein_coding	OTTHUMT00000322932.1	-	NM_130797		153757800	-1	no_errors	ENST00000542406	ensembl	human	known	70_37	rna	INS	0.129:0.124	A
CNIH3	149111	genome.wustl.edu	37	1	224918075	224918075	+	Intron	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr1:224918075G>A	ENST00000272133.3	+	4	1080				RP11-3L21.2_ENST00000431691.1_RNA	NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3						intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		TCTGTGAGAGGCAGTGTCCAG	0.547																																																	0																																										SO:0001627	intron_variant	0			AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.199-89G>A	1.37:g.224918075G>A				RNA	SNP	-	NULL	ENST00000272133.3	37	NULL	CCDS1544.1	1																																																																																			RP11-3L21.2	-	-		0.547	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000229400	Clone_based_vega_gene	protein_coding	OTTHUMT00000091752.2	G	NM_152495		224918075	-1	no_errors	ENST00000431691	ensembl	human	known	70_37	rna	SNP	0.000	A
EP400	57634	genome.wustl.edu	37	12	132514585	132514585	+	Missense_Mutation	SNP	G	G	A	rs376569991		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr12:132514585G>A	ENST00000333577.4	+	30	5853	c.5744G>A	c.(5743-5745)cGt>cAt	p.R1915H	EP400_ENST00000332482.4_Missense_Mutation_p.R1842H|EP400_ENST00000330386.6_Missense_Mutation_p.R1798H|EP400_ENST00000389562.2_Missense_Mutation_p.R1878H|EP400_ENST00000389561.2_Missense_Mutation_p.R1879H|SNORA49_ENST00000386157.1_RNA			Q96L91	EP400_HUMAN	E1A binding protein p400	1915	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		TCTGAAGGACGTCGGGTGCTG	0.428																																																	0													198.0	184.0	189.0					12																	132514585		2203	4300	6503	SO:0001583	missense	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.5744G>A	12.37:g.132514585G>A	ENSP00000333602:p.Arg1915His		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1915H	ENST00000333577.4	37	c.5744		12	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310925	0.60414	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.63224	0.2493	N	0.03281	-0.365	0.41574	D	0.988705	D;D;D	0.67145	0.996;0.996;0.996	P;P;P	0.62298	0.9;0.9;0.9	T	0.60000	-0.7348	10	0.02654	T	1	.	20.1531	0.98091	0.0:0.0:1.0:0.0	.	1879;1798;1878	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	H	1915;1879;1878;1842;1798;1879	ENSP00000333602:R1915H;ENSP00000374212:R1879H;ENSP00000374213:R1878H;ENSP00000331737:R1842H;ENSP00000330620:R1798H	ENSP00000330620:R1798H	R	+	2	0	EP400	131080538	1.000000	0.71417	0.770000	0.31555	0.986000	0.74619	5.711000	0.68400	2.752000	0.94435	0.650000	0.86243	CGT	EP400	-	pfscan_Helicase_C		0.428	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		G	NM_015409		132514585	+1	no_errors	ENST00000333577	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM227B	196951	genome.wustl.edu	37	15	49882154	49882154	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr15:49882154G>C	ENST00000299338.6	-	4	459	c.156C>G	c.(154-156)tgC>tgG	p.C52W	FAM227B_ENST00000558862.1_5'UTR|FAM227B_ENST00000560246.1_Missense_Mutation_p.C52W|FAM227B_ENST00000558594.1_Missense_Mutation_p.C52W|FAM227B_ENST00000561064.1_Missense_Mutation_p.C52W	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	52																	TTTTCAGAGTGCATGACCATT	0.308																																																	0													48.0	53.0	51.0					15																	49882154		2195	4284	6479	SO:0001583	missense	196951				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.156C>G	15.37:g.49882154G>C	ENSP00000299338:p.Cys52Trp		Q86WS2	Missense_Mutation	SNP	NULL	p.C52W	ENST00000299338.6	37	c.156	CCDS32237.1	15	.	.	.	.	.	.	.	.	.	.	G	6.689	0.495753	0.12762	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	4.62	-7.51	0.01346	.	1.946500	0.02234	N	0.065170	T	0.18800	0.0451	N	0.08118	0	0.09310	N	1	B;B	0.29531	0.114;0.247	B;B	0.31946	0.138;0.138	T	0.18650	-1.0330	9	0.38643	T	0.18	-17.5525	8.6472	0.34013	0.6596:0.0:0.2228:0.1176	.	52;52	Q96M60-2;Q96M60	.;CO033_HUMAN	W	52	.	ENSP00000299338:C52W	C	-	3	2	C15orf33	47669446	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.866000	0.00723	-1.312000	0.02306	-0.914000	0.02751	TGC	FAM227B	-	NULL		0.308	FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	FAM227B	HGNC	protein_coding	OTTHUMT00000417872.1	G	NM_152647		49882154	-1	no_errors	ENST00000299338	ensembl	human	known	70_37	missense	SNP	0.000	C
FAM98A	25940	genome.wustl.edu	37	2	33813412	33813412	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr2:33813412A>G	ENST00000238823.8	-	4	652	c.512T>C	c.(511-513)aTt>aCt	p.I171T	FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000403368.1_Missense_Mutation_p.I171T|FAM98A_ENST00000441530.2_Intron			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	171							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					TTTTTTTTCAATCCCGCTGAA	0.353																																																	0													161.0	163.0	162.0					2																	33813412		2203	4300	6503	SO:0001583	missense	25940				CCDS33179.1	2p22.3	2006-11-29		2005-11-20	ENSG00000119812	ENSG00000119812			24520	protein-coding gene	gene with protein product						12477932	Standard	NM_015475		Approved	DKFZP564F0522	uc002rpa.1	Q8NCA5	OTTHUMG00000152152	ENST00000238823.8:c.512T>C	2.37:g.33813412A>G	ENSP00000238823:p.Ile171Thr		B2RNA2|Q9Y3Y6	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.I171T	ENST00000238823.8	37	c.512	CCDS33179.1	2	.	.	.	.	.	.	.	.	.	.	A	18.84	3.709430	0.68730	.	.	ENSG00000119812	ENST00000238823;ENST00000395190;ENST00000403368	T;T	0.58797	0.31;0.31	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.72503	0.3468	L	0.58101	1.795	0.80722	D	1	D;B	0.61080	0.989;0.163	D;B	0.75020	0.985;0.238	T	0.74512	-0.3641	10	0.59425	D	0.04	-7.4987	15.8083	0.78534	1.0:0.0:0.0:0.0	.	171;48	Q8NCA5-2;B3KTW4	.;.	T	171	ENSP00000238823:I171T;ENSP00000384711:I171T	ENSP00000238823:I171T	I	-	2	0	FAM98A	33666916	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.248000	0.95456	2.188000	0.69820	0.460000	0.39030	ATT	FAM98A	-	pfam_Uncharacterised_FAM98		0.353	FAM98A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM98A	HGNC	protein_coding	OTTHUMT00000325457.2	A	NM_015475		33813412	-1	no_errors	ENST00000238823	ensembl	human	known	70_37	missense	SNP	1.000	G
FBXL13	222235	genome.wustl.edu	37	7	102695584	102695584	+	Intron	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr7:102695584C>T	ENST00000313221.4	-	2	427				FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379305.3_Intron	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13											NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTCAGACAATCTTCGAATGTT	0.289																																																	0																																										SO:0001627	intron_variant	222235			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.0+506G>A	7.37:g.102695584C>T			C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.R74K	ENST00000313221.4	37	c.221	CCDS5726.1	7	.	.	.	.	.	.	.	.	.	.	C	8.347	0.829973	0.16749	.	.	ENSG00000161040	ENST00000440067	T	0.43294	0.95	4.88	0.995	0.19838	.	0.391680	0.17493	U	0.172297	T	0.24928	0.0605	.	.	.	0.20307	N	0.999918	.	.	.	.	.	.	T	0.12915	-1.0529	7	0.23302	T	0.38	.	3.5844	0.07965	0.3513:0.4627:0.0:0.186	.	.	.	.	K	74	ENSP00000390126:R74K	ENSP00000390126:R74K	R	-	2	0	FBXL13	102482820	0.952000	0.32445	0.600000	0.28864	0.296000	0.27459	0.724000	0.25954	0.340000	0.23745	-0.181000	0.13052	AGA	FBXL13	-	NULL		0.289	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	HGNC	protein_coding	OTTHUMT00000348001.1	C	NM_145032		102695584	-1	no_errors	ENST00000448002	ensembl	human	known	70_37	missense	SNP	0.115	T
FLG	2312	genome.wustl.edu	37	1	152280708	152280708	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr1:152280708G>T	ENST00000368799.1	-	3	6689	c.6654C>A	c.(6652-6654)gaC>gaA	p.D2218E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2218	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTAGAGCTGTCGGCCCAAG	0.552									Ichthyosis																																								0													315.0	292.0	300.0					1																	152280708		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.6654C>A	1.37:g.152280708G>T	ENSP00000357789:p.Asp2218Glu		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.D2218E	ENST00000368799.1	37	c.6654	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	g	3.409	-0.120656	0.06838	.	.	ENSG00000143631	ENST00000368799	T	0.04234	3.67	1.04	-1.73	0.08081	.	.	.	.	.	T	0.00875	0.0029	L	0.61387	1.9	0.09310	N	1	P	0.36587	0.559	B	0.28784	0.094	T	0.48445	-0.9035	9	0.02654	T	1	.	2.7815	0.05362	0.2242:0.2952:0.4806:0.0	.	2218	P20930	FILA_HUMAN	E	2218	ENSP00000357789:D2218E	ENSP00000357789:D2218E	D	-	3	2	FLG	150547332	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	1.801000	0.38843	-0.479000	0.06813	0.478000	0.44815	GAC	FLG	-	pfam_Filaggrin		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	G	NM_002016		152280708	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	T
FOXC1	2296	genome.wustl.edu	37	6	1612199	1612199	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr6:1612199G>A	ENST00000380874.2	+	1	1519	c.1519G>A	c.(1519-1521)Gtg>Atg	p.V507M		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	507					artery morphogenesis (GO:0048844)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|collagen fibril organization (GO:0030199)|embryonic heart tube development (GO:0035050)|eye development (GO:0001654)|germ cell migration (GO:0008354)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lacrimal gland development (GO:0032808)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process involved in outflow tract morphogenesis (GO:1902257)|negative regulation of mitotic cell cycle (GO:0045930)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|ovarian follicle development (GO:0001541)|paraxial mesoderm formation (GO:0048341)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size (GO:0050880)|regulation of organ growth (GO:0046620)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|ureteric bud development (GO:0001657)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CTTCCACTCGGTGCGGGAGAT	0.637																																					Pancreas(133;719 1821 3197 26645 35015)												0													36.0	27.0	30.0					6																	1612199		2196	4297	6493	SO:0001583	missense	2296			AF048693	CCDS4473.1	6p25	2008-04-10			ENSG00000054598	ENSG00000054598		"""Forkhead boxes"""	3800	protein-coding gene	gene with protein product		601090		FKHL7, IRID1		7957066, 9620769	Standard	NM_001453		Approved	FREAC3, ARA, IGDA, IHG1	uc003mtp.3	Q12948	OTTHUMG00000016182	ENST00000380874.2:c.1519G>A	6.37:g.1612199G>A	ENSP00000370256:p.Val507Met		Q86UP7|Q9BYM1|Q9NUE5|Q9UDD0|Q9UP06	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.V507M	ENST00000380874.2	37	c.1519	CCDS4473.1	6	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533565	0.64972	.	.	ENSG00000054598	ENST00000380874	D	0.82711	-1.64	3.52	2.65	0.31530	.	0.000000	0.56097	U	0.000040	T	0.74619	0.3740	L	0.41492	1.28	0.43399	D	0.995523	D	0.56968	0.978	P	0.52267	0.694	T	0.76906	-0.2786	10	0.87932	D	0	.	10.5894	0.45300	0.0978:0.0:0.9022:0.0	.	507	Q12948	FOXC1_HUMAN	M	507	ENSP00000370256:V507M	ENSP00000370256:V507M	V	+	1	0	FOXC1	1557198	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	6.670000	0.74467	0.703000	0.31848	0.448000	0.29417	GTG	FOXC1	-	NULL		0.637	FOXC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXC1	HGNC	protein_coding	OTTHUMT00000043450.1	G			1612199	+1	no_errors	ENST00000380874	ensembl	human	known	70_37	missense	SNP	1.000	A
FYN	2534	genome.wustl.edu	37	6	112041198	112041198	+	Silent	SNP	G	G	A	rs147662775	byFrequency	TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr6:112041198G>A	ENST00000354650.3	-	4	663	c.57C>T	c.(55-57)gaC>gaT	p.D19D	FYN_ENST00000368667.2_Silent_p.D19D|FYN_ENST00000229470.5_Silent_p.D19D|FYN_ENST00000368678.4_Silent_p.D19D|FYN_ENST00000368682.3_Silent_p.D19D|FYN_ENST00000356013.2_Silent_p.D19D|FYN_ENST00000538466.1_Silent_p.D19D|FYN_ENST00000229471.4_Silent_p.D19D	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN proto-oncogene, Src family tyrosine kinase	19					activated T cell proliferation (GO:0050798)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular response to peptide hormone stimulus (GO:0071375)|dendrite morphogenesis (GO:0048813)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|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)|feeding behavior (GO:0007631)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning (GO:0007612)|leukocyte migration (GO:0050900)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein localization to nucleus (GO:1900182)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|glycoprotein binding (GO:0001948)|growth factor receptor binding (GO:0070851)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TCAGGCTGCCGTCCCTCTCCT	0.527																																																	0								G	,,,	0,4406		0,0,2203	155.0	112.0	127.0		57,57,57,57	-6.2	0.8	6	dbSNP_134	127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	FYN	NM_001242779.1,NM_002037.5,NM_153047.3,NM_153048.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	19/486,19/538,19/535,19/483	112041198	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2534			AK056699	CCDS5094.1, CCDS5095.1, CCDS5096.1	6q21	2014-06-25	2014-06-25		ENSG00000010810	ENSG00000010810		"""SH2 domain containing"""	4037	protein-coding gene	gene with protein product		137025	"""FYN oncogene related to SRC, FGR, YES"""			3526330	Standard	NM_002037		Approved	SYN, SLK, MGC45350	uc003pvh.3	P06241	OTTHUMG00000016305	ENST00000354650.3:c.57C>T	6.37:g.112041198G>A			B5BU57|E1P557|H0UI48|Q16248|Q5R3A6|Q5R3A7|Q8N5D7	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.D19	ENST00000354650.3	37	c.57	CCDS5094.1	6																																																																																			FYN	-	NULL		0.527	FYN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FYN	HGNC	protein_coding	OTTHUMT00000043655.1	G			112041198	-1	no_errors	ENST00000354650	ensembl	human	known	70_37	silent	SNP	0.301	A
GAL3ST3	89792	genome.wustl.edu	37	11	65810621	65810621	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr11:65810621C>T	ENST00000312006.4	-	3	934	c.653G>A	c.(652-654)cGc>cAc	p.R218H	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.R218H	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	218					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						GGCGTCGTCGCGCGGGCTGCG	0.667																																																	0													33.0	38.0	36.0					11																	65810621		2199	4292	6491	SO:0001583	missense	89792			AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.653G>A	11.37:g.65810621C>T	ENSP00000308591:p.Arg218His		Q14D05	Missense_Mutation	SNP	pfam_Gal-3-0_sulfotransfrase	p.R218H	ENST00000312006.4	37	c.653	CCDS8128.1	11	.	.	.	.	.	.	.	.	.	.	C	17.32	3.360790	0.61403	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.15487	2.42;2.42	4.3	4.3	0.51218	.	0.293572	0.29480	N	0.012023	T	0.28797	0.0714	M	0.61703	1.905	0.27069	N	0.963367	D	0.67145	0.996	P	0.56788	0.806	T	0.10042	-1.0647	10	0.15499	T	0.54	-19.672	12.6472	0.56742	0.0:1.0:0.0:0.0	.	218	Q96A11	G3ST3_HUMAN	H	218	ENSP00000308591:R218H;ENSP00000434829:R218H	ENSP00000308591:R218H	R	-	2	0	GAL3ST3	65567197	0.891000	0.30450	0.999000	0.59377	0.982000	0.71751	1.742000	0.38248	2.103000	0.63969	0.561000	0.74099	CGC	GAL3ST3	-	pfam_Gal-3-0_sulfotransfrase		0.667	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL3ST3	HGNC	protein_coding	OTTHUMT00000391052.1	C	NM_033036		65810621	-1	no_errors	ENST00000312006	ensembl	human	known	70_37	missense	SNP	0.560	T
GATA2	2624	genome.wustl.edu	37	3	128199904	128199904	+	Silent	SNP	G	G	A	rs534807053		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:128199904G>A	ENST00000341105.2	-	6	1732	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	GATA2_ENST00000489987.1_5'UTR|GATA2_ENST00000430265.2_Silent_p.F453F|GATA2_ENST00000487848.1_Silent_p.F467F	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	467					blood coagulation (GO:0007596)|cell differentiation in hindbrain (GO:0021533)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|commitment of neuronal cell to specific neuron type in forebrain (GO:0021902)|definitive hemopoiesis (GO:0060216)|embryonic placenta development (GO:0001892)|eosinophil fate commitment (GO:0035854)|GABAergic neuron differentiation (GO:0097154)|homeostasis of number of cells within a tissue (GO:0048873)|inner ear morphogenesis (GO:0042472)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fat cell proliferation (GO:0070345)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phagocytosis (GO:0006909)|pituitary gland development (GO:0021983)|positive regulation of angiogenesis (GO:0045766)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of phagocytosis (GO:0050766)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of forebrain neuron differentiation (GO:2000977)|regulation of histone acetylation (GO:0035065)|semicircular canal development (GO:0060872)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)|ventral spinal cord interneuron differentiation (GO:0021514)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGGGGTGGCCGAAGGAGAGGC	0.672			Mis		AML(CML blast transformation)								G|||	1	0.000199681	0.0	0.0	5008	,	,		14874	0.0		0.0	False		,,,				2504	0.001							Dom	yes		3	3q21.3	2624	GATA binding protein 2		L	0													32.0	34.0	33.0					3																	128199904		2203	4300	6503	SO:0001819	synonymous_variant	2624			AF169253	CCDS3049.1, CCDS46903.1	3q21	2014-09-17	2001-11-28		ENSG00000179348	ENSG00000179348		"""GATA zinc finger domain containing"""	4171	protein-coding gene	gene with protein product		137295	"""GATA-binding protein 2"""			1714909	Standard	NM_032638		Approved	NFE1B	uc003eko.2	P23769	OTTHUMG00000159689	ENST00000341105.2:c.1401C>T	3.37:g.128199904G>A			D3DNB3|Q53YE0|Q96BH0|Q96BH8|Q9BUJ6	Silent	SNP	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.F467	ENST00000341105.2	37	c.1401	CCDS3049.1	3																																																																																			GATA2	-	pirsf_TF_GATA-1/2/3		0.672	GATA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GATA2	HGNC	protein_coding	OTTHUMT00000356925.1	G	NM_032638		128199904	-1	no_errors	ENST00000341105	ensembl	human	known	70_37	silent	SNP	0.992	A
GOLGA8F	100132565	genome.wustl.edu	37	15	28632828	28632828	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr15:28632828A>T	ENST00000450328.2	+	14	1640	c.742A>T	c.(742-744)Agg>Tgg	p.R248W	GOLGA8F_ENST00000532622.2_Missense_Mutation_p.R466W|GOLGA8F_ENST00000337838.7_Intron|AC091304.1_ENST00000408123.1_RNA|RN7SL238P_ENST00000465782.2_RNA|GOLGA8F_ENST00000526619.2_Missense_Mutation_p.R252W			Q08AF8	GOG8F_HUMAN	golgin A8 family, member F	248						Golgi apparatus (GO:0005794)				lung(4)	4						CCTGGAGAGCAGGGAGGCCAT	0.612																																																	0													87.0	158.0	137.0					15																	28632828		631	1588	2219	SO:0001583	missense	100132565					15q13.1	2013-01-17	2010-02-12		ENSG00000153684	ENSG00000153684			32378	other	unknown			"""golgi autoantigen, golgin subfamily a, 8F"""			12477932	Standard	NR_033351		Approved	DKFZp434P162	uc010uag.1	Q08AF8	OTTHUMG00000167129	ENST00000450328.2:c.742A>T	15.37:g.28632828A>T	ENSP00000455253:p.Arg248Trp		A4FTY1|Q1A5X9|Q8NDK0	Missense_Mutation	SNP	NULL	p.R252W	ENST00000450328.2	37	c.754		15																																																																																			GOLGA8F	-	NULL		0.612	GOLGA8F-202	KNOWN	basic|appris_candidate	protein_coding	GOLGA8F	HGNC	protein_coding		A	NR_033351.1		28632828	+1	no_errors	ENST00000526619	ensembl	human	known	70_37	missense	SNP	0.987	T
GNB5	10681	genome.wustl.edu	37	15	52418211	52418211	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr15:52418211C>A	ENST00000261837.7	-	11	1008	c.943G>T	c.(943-945)Gag>Tag	p.E315*	GNB5_ENST00000358784.7_Nonsense_Mutation_p.E273*|GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000396335.4_Nonsense_Mutation_p.E203*|CTD-2184D3.7_ENST00000557898.1_RNA	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	315					GTP catabolic process (GO:0006184)|negative regulation of voltage-gated calcium channel activity (GO:1901386)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	chaperone binding (GO:0051087)|G-protein gamma-subunit binding (GO:0031682)|GTPase activity (GO:0003924)|signal transducer activity (GO:0004871)			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		ATGGCAACCTCCCTATCTGCC	0.458																																																	0													80.0	70.0	74.0					15																	52418211		2195	4293	6488	SO:0001587	stop_gained	10681			AF017656	CCDS10149.1, CCDS45261.1	15q21.1	2013-01-10			ENSG00000069966	ENSG00000069966		"""WD repeat domain containing"""	4401	protein-coding gene	gene with protein product		604447				9606987	Standard	NM_016194		Approved	GB5	uc031qrz.1	O14775	OTTHUMG00000131892	ENST00000261837.7:c.943G>T	15.37:g.52418211C>A	ENSP00000261837:p.Glu315*		B2RBR5|Q9HAU9|Q9UFT3	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep	p.E315*	ENST00000261837.7	37	c.943	CCDS10149.1	15	.	.	.	.	.	.	.	.	.	.	C	38	7.039721	0.98021	.	.	ENSG00000069966	ENST00000261837;ENST00000396335;ENST00000544480;ENST00000358784	.	.	.	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-31.9208	20.6634	0.99662	0.0:1.0:0.0:0.0	.	.	.	.	X	315;273;113;203	.	ENSP00000261837:E315X	E	-	1	0	GNB5	50205503	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.539000	0.82063	2.894000	0.99253	0.655000	0.94253	GAG	GNB5	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Guanine_nucleotide-bd_bsu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.458	GNB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNB5	HGNC	protein_coding	OTTHUMT00000254842.1	C			52418211	-1	no_errors	ENST00000261837	ensembl	human	known	70_37	nonsense	SNP	1.000	A
GPR179	440435	genome.wustl.edu	37	17	36482459	36482459	+	Silent	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr17:36482459C>T	ENST00000342292.4	-	11	7013	c.6993G>A	c.(6991-6993)caG>caA	p.Q2331Q	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	2331					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACTCAGCTTCCTGGAGACTTG	0.522																																																	0													145.0	136.0	139.0					17																	36482459		1926	4124	6050	SO:0001819	synonymous_variant	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.6993G>A	17.37:g.36482459C>T				Silent	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.Q2331	ENST00000342292.4	37	c.6993	CCDS42308.1	17																																																																																			GPR179	-	NULL		0.522	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36482459	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	silent	SNP	0.236	T
GPS1	2873	genome.wustl.edu	37	17	80014794	80014794	+	Missense_Mutation	SNP	C	C	A	rs375649658		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr17:80014794C>A	ENST00000306823.6	+	12	1368	c.1345C>A	c.(1345-1347)Cgc>Agc	p.R449S	GPS1_ENST00000392358.2_Missense_Mutation_p.R485S|GPS1_ENST00000578552.1_Missense_Mutation_p.R445S|GPS1_ENST00000355130.2_Missense_Mutation_p.R485S|GPS1_ENST00000320548.4_Missense_Mutation_p.R429S			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	449					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			GTTCCAGCGCCGCGCCAAGGC	0.642																																																	0													52.0	48.0	50.0					17																	80014794		2201	4300	6501	SO:0001583	missense	2873				CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"""COP9 signalosome subunit 1"""	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.1345C>A	17.37:g.80014794C>A	ENSP00000302873:p.Arg449Ser		Q8NA10|Q9BWL1	Missense_Mutation	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.R485S	ENST00000306823.6	37	c.1453	CCDS32774.1	17	.	.	.	.	.	.	.	.	.	.	c	14.98	2.697233	0.48202	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130	.	.	.	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	T	0.71517	0.3349	L	0.54323	1.7	0.80722	D	1	B;D;B;B;D;D	0.67145	0.273;0.994;0.434;0.393;0.996;0.996	B;P;B;B;P;D	0.65233	0.082;0.858;0.191;0.17;0.892;0.933	T	0.67688	-0.5606	9	0.19147	T	0.46	-18.3161	16.5325	0.84365	0.0:1.0:0.0:0.0	.	441;484;434;445;449;485	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	S	485;435;449;485	.	ENSP00000302873:R449S	R	+	1	0	GPS1	77608083	0.998000	0.40836	0.374000	0.26016	0.969000	0.65631	3.404000	0.52623	2.129000	0.65627	0.457000	0.33378	CGC	GPS1	-	NULL		0.642	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPS1	HGNC	protein_coding	OTTHUMT00000442176.1	C	NM_212492		80014794	+1	no_errors	ENST00000355130	ensembl	human	known	70_37	missense	SNP	0.999	A
ID1	3397	genome.wustl.edu	37	20	30193562	30193562	+	Silent	SNP	G	G	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr20:30193562G>T	ENST00000376112.3	+	1	477	c.372G>T	c.(370-372)ccG>ccT	p.P124P	MIR3193_ENST00000578262.1_RNA|ID1_ENST00000376105.3_Silent_p.P124P	NM_002165.3	NP_002156.2	P41134	ID1_HUMAN	inhibitor of DNA binding 1, dominant negative helix-loop-helix protein	124					angiogenesis (GO:0001525)|blood vessel endothelial cell migration (GO:0043534)|blood vessel morphogenesis (GO:0048514)|BMP signaling pathway (GO:0030509)|collagen metabolic process (GO:0032963)|endothelial cell morphogenesis (GO:0001886)|heart development (GO:0007507)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|negative regulation of apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein destabilization (GO:0031648)|regulation of angiogenesis (GO:0045765)|regulation of MAPK cascade (GO:0043408)|response to antibiotic (GO:0046677)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			GAGGGCTGCCGGTCCGGGCTC	0.617																																					NSCLC(123;1618 1779 21803 28680 33854)												0													12.0	16.0	14.0					20																	30193562		2200	4296	6496	SO:0001819	synonymous_variant	3397				CCDS13185.1, CCDS13186.1	20q11	2013-05-21			ENSG00000125968	ENSG00000125968		"""Basic helix-loop-helix proteins"""	5360	protein-coding gene	gene with protein product	"""DNA-binding protein inhibitor ID-1"""	600349				8294468	Standard	NM_002165		Approved	dJ857M17.1.2, bHLHb24	uc002wwg.2	P41134	OTTHUMG00000032181	ENST00000376112.3:c.372G>T	20.37:g.30193562G>T			A8K537|E1P5L4|O00651|O00652|Q16371|Q16377|Q5TE66|Q5TE67|Q969Z7|Q9H0Z5|Q9H109	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.P124	ENST00000376112.3	37	c.372	CCDS13185.1	20																																																																																			ID1	-	superfamily_HLH_dom		0.617	ID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ID1	HGNC	protein_coding	OTTHUMT00000078550.1	G	NM_002165		30193562	+1	no_errors	ENST00000376112	ensembl	human	known	70_37	silent	SNP	0.002	T
INPP5J	27124	genome.wustl.edu	37	22	31523358	31523358	+	Missense_Mutation	SNP	G	G	A	rs529365616		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr22:31523358G>A	ENST00000331075.5	+	6	1676	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M	INPP5J_ENST00000405300.1_Missense_Mutation_p.V176M|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000404453.1_5'Flank|INPP5J_ENST00000400294.2_Missense_Mutation_p.V176M|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000404390.3_Missense_Mutation_p.V175M|INPP5J_ENST00000412277.2_Missense_Mutation_p.V476M	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	543	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CAAGGGTGGCGTGAGCGTGCG	0.632													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14720	0.0		0.0	False		,,,				2504	0.0																0													37.0	40.0	39.0					22																	31523358		2150	4250	6400	SO:0001583	missense	27124			U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1627G>A	22.37:g.31523358G>A	ENSP00000333262:p.Val543Met		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	p.V543M	ENST00000331075.5	37	c.1627		22	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987729	0.93106	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390	D;D;D;D;D	0.95980	-3.87;-3.87;-3.87;-3.87;-3.87	4.77	4.77	0.60923	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.64402	D	0.000001	D	0.98664	0.9552	H	0.97540	4.025	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.99809	1.1040	10	0.87932	D	0	.	18.2124	0.89874	0.0:0.0:1.0:0.0	.	543;175	Q15735;Q15735-3	PI5PA_HUMAN;.	M	543;476;176;176;175	ENSP00000333262:V543M;ENSP00000392924:V476M;ENSP00000383150:V176M;ENSP00000384596:V176M;ENSP00000384534:V175M	ENSP00000333262:V543M	V	+	1	0	INPP5J	29853358	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	7.613000	0.82986	2.363000	0.80096	0.655000	0.94253	GTG	INPP5J	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc		0.632	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	INPP5J	HGNC	protein_coding	OTTHUMT00000321784.1	G	NM_001002837		31523358	+1	no_errors	ENST00000331075	ensembl	human	known	70_37	missense	SNP	1.000	A
ISPD	729920	genome.wustl.edu	37	7	16255786	16255786	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr7:16255786G>A	ENST00000407010.2	-	9	1155	c.1156C>T	c.(1156-1158)Cag>Tag	p.Q386*	ISPD-AS1_ENST00000582683.1_RNA|ISPD-AS1_ENST00000457112.1_RNA|ISPD_ENST00000399310.3_Nonsense_Mutation_p.Q336*|ISPD-AS1_ENST00000438573.1_RNA|ISPD-AS1_ENST00000579293.1_RNA	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	386					axon guidance (GO:0007411)|isoprenoid biosynthetic process (GO:0008299)|protein O-linked mannosylation (GO:0035269)		nucleotidyltransferase activity (GO:0016779)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						TCCATTTTCTGACTGGGAGGT	0.323										Multiple Myeloma(15;0.18)																																							0													56.0	52.0	53.0					7																	16255786		1787	4054	5841	SO:0001587	stop_gained	729920			AK124805		7p21.2	2010-03-19			ENSG00000214960	ENSG00000214960			37276	protein-coding gene	gene with protein product	"""notch1-induced protein"", ""4-diphosphocytidyl-2C-methyl-D-erythritol synthase homolog (Arabidopsis)"""	614631				11181995	Standard	NM_001101417		Approved	hCG_1745121, IspD, Nip	uc010ktx.2	A4D126	OTTHUMG00000152447	ENST00000407010.2:c.1156C>T	7.37:g.16255786G>A	ENSP00000385478:p.Gln386*		A8MU35|H9KVB2	Nonsense_Mutation	SNP	pfam_ISPD_synthase	p.Q386*	ENST00000407010.2	37	c.1156		7	.	.	.	.	.	.	.	.	.	.	G	25.6	4.652282	0.88056	.	.	ENSG00000214960	ENST00000407010;ENST00000399310	.	.	.	5.22	3.3	0.37823	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-14.5154	11.6808	0.51457	0.0:0.4612:0.5388:0.0	.	.	.	.	X	386;336	.	ENSP00000382249:Q336X	Q	-	1	0	ISPD	16222311	0.065000	0.20965	0.994000	0.49952	0.555000	0.35460	0.072000	0.14617	1.309000	0.44985	0.591000	0.81541	CAG	ISPD	-	NULL		0.323	ISPD-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	ISPD	HGNC	protein_coding	OTTHUMT00000326252.4	G	NM_001101426		16255786	-1	no_errors	ENST00000407010	ensembl	human	known	70_37	nonsense	SNP	0.987	A
KBTBD4	55709	genome.wustl.edu	37	11	47595183	47595183	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr11:47595183C>G	ENST00000526005.1	-	4	1009	c.856G>C	c.(856-858)Gac>Cac	p.D286H	NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000395288.2_Missense_Mutation_p.D286H|RNU5E-10P_ENST00000363506.1_RNA|KBTBD4_ENST00000533290.1_Missense_Mutation_p.D311H|KBTBD4_ENST00000430070.2_Missense_Mutation_p.D302H			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	286										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ACATACAAGTCTCCACCATGC	0.567																																																	0													91.0	68.0	76.0					11																	47595183		2201	4298	6499	SO:0001583	missense	55709			AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.856G>C	11.37:g.47595183C>G	ENSP00000433340:p.Asp286His		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.D302H	ENST00000526005.1	37	c.904	CCDS7940.1	11	.	.	.	.	.	.	.	.	.	.	C	22.7	4.318798	0.81469	.	.	ENSG00000123444	ENST00000526005;ENST00000533290;ENST00000395288;ENST00000359900;ENST00000430070	T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23	5.72	5.72	0.89469	Kelch-type beta propeller (1);	0.000000	0.85682	D	0.000000	T	0.77046	0.4073	L	0.39898	1.24	0.80722	D	1	D;D;P	0.89917	1.0;0.998;0.66	D;D;P	0.80764	0.994;0.945;0.511	T	0.75303	-0.3365	10	0.44086	T	0.13	-24.1813	19.8751	0.96867	0.0:1.0:0.0:0.0	.	302;286;311	Q9NVX7-2;Q9NVX7;B3KRH9	.;KBTB4_HUMAN;.	H	286;311;286;295;302	ENSP00000433340:D286H;ENSP00000436713:D311H;ENSP00000378703:D286H;ENSP00000415106:D302H	ENSP00000352971:D295H	D	-	1	0	KBTBD4	47551759	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.485000	0.81204	2.695000	0.91970	0.655000	0.94253	GAC	KBTBD4	-	NULL		0.567	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	KBTBD4	HGNC	protein_coding	OTTHUMT00000391763.1	C	NM_016506		47595183	-1	no_errors	ENST00000430070	ensembl	human	known	70_37	missense	SNP	1.000	G
KLF3	51274	genome.wustl.edu	37	4	38690502	38690502	+	Silent	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr4:38690502C>T	ENST00000261438.5	+	3	659	c.354C>T	c.(352-354)ggC>ggT	p.G118G	KLF3_ENST00000514033.1_Silent_p.G118G	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	118	Pro-rich.				cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						AGCCCTTCGGCGTGCCGCTGT	0.642																																																	0													52.0	56.0	55.0					4																	38690502		2203	4300	6503	SO:0001819	synonymous_variant	51274			AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.354C>T	4.37:g.38690502C>T			Q6PIR1|Q86TN0|Q9P2X6	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G118	ENST00000261438.5	37	c.354	CCDS3444.1	4																																																																																			KLF3	-	NULL		0.642	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF3	HGNC	protein_coding	OTTHUMT00000215093.2	C			38690502	+1	no_errors	ENST00000261438	ensembl	human	known	70_37	silent	SNP	0.152	T
KLK13	26085	genome.wustl.edu	37	19	51563191	51563191	+	Silent	SNP	C	C	A	rs369313164		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr19:51563191C>A	ENST00000595793.1	-	3	441	c.399G>T	c.(397-399)ccG>ccT	p.P133P	KLK13_ENST00000335422.3_Intron|KLK13_ENST00000595547.1_Intron|KLK13_ENST00000596955.1_Silent_p.P133P	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	133	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				protein processing (GO:0016485)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)	hydrolase activity (GO:0016787)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TGAGCTGGACCGGGGACTGCA	0.607																																																	0													109.0	98.0	102.0					19																	51563191		2203	4300	6503	SO:0001819	synonymous_variant	26085				CCDS12822.1	19q13.33	2008-02-05	2006-10-27			ENSG00000167759		"""Kallikreins"""	6361	protein-coding gene	gene with protein product		605505	"""kallikrein 13"""			16800724, 16800723	Standard	NM_015596		Approved	KLK-L4	uc002pvn.3	Q9UKR3		ENST00000595793.1:c.399G>T	19.37:g.51563191C>A			A7UNK6|Q86VI8|Q9Y433	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.P133	ENST00000595793.1	37	c.399	CCDS12822.1	19																																																																																			KLK13	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.607	KLK13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK13	HGNC	protein_coding	OTTHUMT00000464298.2	C	NM_015596		51563191	-1	no_errors	ENST00000595793	ensembl	human	known	70_37	silent	SNP	0.013	A
LIN7A	8825	genome.wustl.edu	37	12	81331463	81331463	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr12:81331463G>C	ENST00000552864.1	-	1	241	c.39C>G	c.(37-39)gaC>gaG	p.D13E	MIR618_ENST00000385287.1_RNA	NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	13					exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						ATGTCGCCATGTCTGCCGTGG	0.642																																																	0													27.0	25.0	26.0					12																	81331463		2201	4298	6499	SO:0001583	missense	8825			AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.39C>G	12.37:g.81331463G>C	ENSP00000447488:p.Asp13Glu		A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ	p.D13E	ENST00000552864.1	37	c.39	CCDS9021.1	12	.	.	.	.	.	.	.	.	.	.	G	17.00	3.275493	0.59649	.	.	ENSG00000111052	ENST00000552864;ENST00000549417	T;T	0.26373	2.28;1.74	3.29	3.29	0.37713	.	0.324023	0.20966	U	0.082471	T	0.18087	0.0434	N	0.19112	0.55	0.34474	D	0.70317	B	0.02656	0.0	B	0.01281	0.0	T	0.23013	-1.0200	10	0.87932	D	0	-8.9127	13.8403	0.63435	0.0:0.0:1.0:0.0	.	13	O14910	LIN7A_HUMAN	E	13;7	ENSP00000447488:D13E;ENSP00000448975:D7E	ENSP00000261203:D13E	D	-	3	2	LIN7A	79855594	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.039000	0.70972	1.845000	0.53610	0.400000	0.26472	GAC	LIN7A	-	NULL		0.642	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN7A	HGNC	protein_coding	OTTHUMT00000407760.1	G			81331463	-1	no_errors	ENST00000552864	ensembl	human	known	70_37	missense	SNP	1.000	C
LIPC	3990	genome.wustl.edu	37	15	58838164	58838164	+	Silent	SNP	C	C	T	rs376170453		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr15:58838164C>T	ENST00000356113.6	+	7	1413	c.798C>T	c.(796-798)caC>caT	p.H266H	LIPC_ENST00000414170.3_Silent_p.H266H|LIPC_ENST00000433326.2_Silent_p.H205H|LIPC_ENST00000299022.5_Silent_p.H266H			P11150	LIPC_HUMAN	lipase, hepatic	266					cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron remnant clearance (GO:0034382)|fatty acid biosynthetic process (GO:0006633)|high-density lipoprotein particle remodeling (GO:0034375)|intermediate-density lipoprotein particle remodeling (GO:0034373)|low-density lipoprotein particle remodeling (GO:0034374)|phosphatidylcholine catabolic process (GO:0034638)|reverse cholesterol transport (GO:0043691)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)	apolipoprotein binding (GO:0034185)|heparin binding (GO:0008201)|low-density lipoprotein particle binding (GO:0030169)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		TTGCCCAGCACGGCTTCAATG	0.542																																																	0								C		0,4384		0,0,2192	59.0	59.0	59.0		798	-5.4	0.0	15		59	1,8583	1.2+/-3.3	0,1,4291	no	coding-synonymous	LIPC	NM_000236.2		0,1,6483	TT,TC,CC		0.0116,0.0,0.0077		266/500	58838164	1,12967	2192	4292	6484	SO:0001819	synonymous_variant	3990				CCDS10166.1	15q21-q23	2012-10-02			ENSG00000166035	ENSG00000166035	3.1.1.3		6619	protein-coding gene	gene with protein product		151670					Standard	NM_000236		Approved	HL, HTGL	uc002afa.2	P11150	OTTHUMG00000132632	ENST00000356113.6:c.798C>T	15.37:g.58838164C>T			A2RUB4|A8K9B6|O43571|P78529|Q99465	Silent	SNP	pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase	p.H266	ENST00000356113.6	37	c.798	CCDS10166.1	15																																																																																			LIPC	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH		0.542	LIPC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LIPC	HGNC	protein_coding	OTTHUMT00000416209.1	C			58838164	+1	no_errors	ENST00000299022	ensembl	human	known	70_37	silent	SNP	0.000	T
LINC01410	103352539	genome.wustl.edu	37	9	66466538	66466538	+	lincRNA	SNP	C	C	T	rs77620145	byFrequency	TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr9:66466538C>T	ENST00000424345.1	+	0	1171																											cttgtttcagctaaactcccc	0.428																																																	0																																												100996870																															9.37:g.66466538C>T				RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-		0.428	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	C			66466538	+1	no_errors	ENST00000424345	ensembl	human	known	70_37	rna	SNP	0.004	T
FAM230A	653203	genome.wustl.edu	37	22	20709953	20709953	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr22:20709953C>T	ENST00000434783.3	+	8	1869	c.1685C>T	c.(1684-1686)cCg>cTg	p.P562L	USP41_ENST00000486536.2_Intron|USP41_ENST00000454608.2_Intron					family with sequence similarity 230, member A																		AGGATGTCGCCGACGGCATCG	0.647																																																	0																																										SO:0001583	missense	101060787			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.1685C>T	22.37:g.20709953C>T	ENSP00000463576:p.Pro562Leu			Missense_Mutation	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.P562L	ENST00000434783.3	37	c.1685		22																																																																																			AC007731.1	-	superfamily_Kinase-like_dom		0.647	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	LOC101060787	Clone_based_vega_gene	protein_coding	OTTHUMT00000319609.4	C			20709953	+1	no_errors	ENST00000434783	ensembl	human	putative	70_37	missense	SNP	0.998	T
LRRK2	120892	genome.wustl.edu	37	12	40745533	40745533	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr12:40745533G>C	ENST00000298910.7	+	44	6632	c.6574G>C	c.(6574-6576)Gag>Cag	p.E2192Q		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	2192					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATACACTTCTGAGGTAAATCC	0.368																																																	0													54.0	60.0	58.0					12																	40745533		2203	4300	6503	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.6574G>C	12.37:g.40745533G>C	ENSP00000298910:p.Glu2192Gln		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.E2192Q	ENST00000298910.7	37	c.6574	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973260	0.34848	.	.	ENSG00000188906	ENST00000298910	T	0.71934	-0.61	6.06	5.16	0.70880	WD40 repeat-like-containing domain (1);	0.092168	0.85682	D	0.000000	T	0.62356	0.2421	L	0.49350	1.555	0.36987	D	0.894571	B;B	0.22146	0.065;0.065	B;B	0.16289	0.015;0.015	T	0.60969	-0.7157	10	0.26408	T	0.33	.	11.978	0.53103	0.0662:0.1208:0.813:0.0	.	2192;2192	Q17RV3;Q5S007	.;LRRK2_HUMAN	Q	2192	ENSP00000298910:E2192Q	ENSP00000298910:E2192Q	E	+	1	0	LRRK2	39031800	1.000000	0.71417	0.986000	0.45419	0.892000	0.51952	2.632000	0.46511	2.882000	0.98803	0.655000	0.94253	GAG	LRRK2	-	superfamily_WD40_repeat_dom		0.368	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	G	XM_058513		40745533	+1	no_errors	ENST00000298910	ensembl	human	known	70_37	missense	SNP	1.000	C
MARCH3	115123	genome.wustl.edu	37	5	126214052	126214052	+	Missense_Mutation	SNP	C	C	T	rs138413676		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr5:126214052C>T	ENST00000308660.5	-	4	942	c.428G>A	c.(427-429)cGg>cAg	p.R143Q		NM_178450.3	NP_848545.1	Q86UD3	MARH3_HUMAN	membrane-associated ring finger (C3HC4) 3, E3 ubiquitin protein ligase	143					endocytosis (GO:0006897)|protein ubiquitination (GO:0016567)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.074)|OV - Ovarian serous cystadenocarcinoma(64;0.0793)		AAACAGAGTCCGCTTCTCATG	0.582																																																	0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	51.0	41.0	44.0		428	4.3	1.0	5	dbSNP_134	44	3,8597	3.0+/-9.4	0,3,4297	yes	missense	MARCH3	NM_178450.3	43	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	probably-damaging	143/254	126214052	4,13002	2203	4300	6503	SO:0001583	missense	115123			AF055007	CCDS4141.1	5q23.2	2013-01-09	2012-02-23		ENSG00000173926	ENSG00000173926		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	28728	protein-coding gene	gene with protein product		613333	"""membrane-associated ring finger (C3HC4) 3"""			14722266, 8619474	Standard	NM_178450		Approved	MGC48332, MARCH-III, RNF173	uc003kuf.4	Q86UD3	OTTHUMG00000128968	ENST00000308660.5:c.428G>A	5.37:g.126214052C>T	ENSP00000309141:p.Arg143Gln		A8K264|B9EJE7	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING	p.R143Q	ENST00000308660.5	37	c.428	CCDS4141.1	5	.	.	.	.	.	.	.	.	.	.	C	20.6	4.018427	0.75275	2.27E-4	3.49E-4	ENSG00000173926	ENST00000308660	T	0.24538	1.85	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000012	T	0.47021	0.1423	M	0.76170	2.325	0.80722	D	1	D	0.71674	0.998	P	0.57720	0.826	T	0.46569	-0.9182	10	0.44086	T	0.13	-13.6346	18.1469	0.89661	0.0:1.0:0.0:0.0	.	143	Q86UD3	MARH3_HUMAN	Q	143	ENSP00000309141:R143Q	ENSP00000309141:R143Q	R	-	2	0	MARCH3	126241951	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.882000	0.69714	2.690000	0.91761	0.591000	0.81541	CGG	MARCH3	-	NULL		0.582	MARCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH3	HGNC	protein_coding	OTTHUMT00000250955.2	C	NM_178450		126214052	-1	no_errors	ENST00000308660	ensembl	human	known	70_37	missense	SNP	1.000	T
MCC	4163	genome.wustl.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082																0																																										SO:0001652	inframe_insertion	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup		D3DT05|Q6ZR04	In_Frame_Ins	INS	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.21in_frame_insG	ENST00000408903.3	37	c.64_63	CCDS43351.1	5																																																																																			MCC	-	NULL		0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000370839.1	-	NM_001085377		112824049	-1	no_errors	ENST00000408903	ensembl	human	putative	70_37	in_frame_ins	INS	0.854:0.894	GCC
MATR3	9782	genome.wustl.edu	37	5	138653340	138653340	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr5:138653340A>G	ENST00000394805.3	+	7	1573	c.1238A>G	c.(1237-1239)tAc>tGc	p.Y413C	MATR3_ENST00000394800.2_Missense_Mutation_p.Y413C|MATR3_ENST00000510056.1_Missense_Mutation_p.Y413C|MATR3_ENST00000502929.1_Missense_Mutation_p.Y413C|MATR3_ENST00000504203.1_Missense_Mutation_p.Y75C|MATR3_ENST00000503811.1_Missense_Mutation_p.Y125C|MATR3_ENST00000361059.2_Missense_Mutation_p.Y413C|MATR3_ENST00000509990.1_Missense_Mutation_p.Y413C|MATR3_ENST00000502499.1_Missense_Mutation_p.Y75C	NM_001194955.1|NM_018834.5	NP_001181884.1|NP_061322.2	P43243	MATR3_HUMAN	matrin 3	413	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell death (GO:0008219)	membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AACTTGAGATACCAGCTATTA	0.323																																																	0													61.0	62.0	62.0					5																	138653340		2202	4300	6502	SO:0001583	missense	9782			M63483	CCDS4210.1, CCDS54908.1, CCDS75316.1	5q31.3	2010-08-12			ENSG00000015479	ENSG00000015479			6912	protein-coding gene	gene with protein product		164015	"""myopathy, distal 2"""	MPD2		2033075, 19344878	Standard	NM_018834		Approved	KIAA0723, MGC9105, VCPDM	uc003ldx.3	P43243	OTTHUMG00000129229	ENST00000394805.3:c.1238A>G	5.37:g.138653340A>G	ENSP00000378284:p.Tyr413Cys		B7ZAV5|D3DQC3|Q9UHW0|Q9UQ27	Missense_Mutation	SNP	smart_Znf_U1,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.Y413C	ENST00000394805.3	37	c.1238	CCDS4210.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.20|15.20	2.761776|2.761776	0.49468|0.49468	.|.	.|.	ENSG00000015479|ENSG00000015479	ENST00000515833|ENST00000509990;ENST00000361059;ENST00000504203;ENST00000502929;ENST00000394800;ENST00000509644;ENST00000394805;ENST00000512876;ENST00000513678;ENST00000504045;ENST00000504311;ENST00000502499;ENST00000510056;ENST00000511249;ENST00000503811;ENST00000514528	.|T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.77229	.|-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.08;-1.06;-1.02;-1.02;-0.63;-1.02	4.88|4.88	4.88|4.88	0.63580|0.63580	.|RNA recognition motif domain (2);	.|0.189474	.|0.47455	.|D	.|0.000236	T|T	0.73590|0.73590	0.3606|0.3606	N|N	0.08118|0.08118	0|0	0.40102|0.40102	D|D	0.976387|0.976387	.|D;D;D;D;D;D	.|0.69078	.|0.997;0.964;0.997;0.977;0.992;0.983	.|P;B;P;P;D;B	.|0.71414	.|0.808;0.431;0.808;0.615;0.973;0.431	T|T	0.75648|0.75648	-0.3245|-0.3245	5|10	.|0.38643	.|T	.|0.18	-4.4973|-4.4973	10.4814|10.4814	0.44695|0.44695	0.8547:0.0:0.0:0.1453|0.8547:0.0:0.0:0.1453	.|.	.|125;413;125;413;413;413	.|B7ZAV5;D6REM6;B4DRS1;Q68D11;A8MXP9;P43243	.|.;.;.;.;.;MATR3_HUMAN	A|C	173|413;413;75;413;413;75;413;75;75;413;75;75;413;11;125;149	.|ENSP00000423533:Y413C;ENSP00000354346:Y413C;ENSP00000421218:Y75C;ENSP00000422319:Y413C;ENSP00000378279:Y413C;ENSP00000378284:Y413C;ENSP00000425150:Y75C;ENSP00000423290:Y413C;ENSP00000422700:Y75C;ENSP00000426030:Y75C;ENSP00000426743:Y413C;ENSP00000422649:Y11C;ENSP00000423587:Y125C	.|ENSP00000354346:Y413C	T|Y	+|+	1|2	0|0	MATR3|MATR3	138681239|138681239	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.776000|0.776000	0.43924|0.43924	2.945000|2.945000	0.49043|0.49043	1.840000|1.840000	0.53500|0.53500	0.373000|0.373000	0.22412|0.22412	ACC|TAC	MATR3	-	smart_RRM_dom,pfscan_RRM_dom		0.323	MATR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MATR3	HGNC	protein_coding	OTTHUMT00000251324.2	A	NM_018834		138653340	+1	no_errors	ENST00000361059	ensembl	human	known	70_37	missense	SNP	1.000	G
KMT2B	9757	genome.wustl.edu	37	19	36227608	36227608	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr19:36227608G>A	ENST00000222270.7	+	31	7177	c.7177G>A	c.(7177-7179)Gag>Aag	p.E2393K	KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.E2393K	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2393					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										TTCGAGCTCTGAGGAAGAGCC	0.582																																																	0													48.0	52.0	51.0					19																	36227608		1999	4163	6162	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.7177G>A	19.37:g.36227608G>A	ENSP00000222270:p.Glu2393Lys		O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.E2393K	ENST00000222270.7	37	c.7177	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656050	0.67586	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84070	-1.8;-1.8	5.84	5.84	0.93424	.	0.000000	0.43416	D	0.000568	D	0.83482	0.5264	L	0.40543	1.245	0.50813	D	0.99989	P	0.52842	0.956	P	0.49999	0.628	T	0.83192	-0.0083	10	0.45353	T	0.12	.	18.9181	0.92515	0.0:0.0:1.0:0.0	.	2393	Q9UMN6	MLL4_HUMAN	K	2393	ENSP00000222270:E2393K;ENSP00000398837:E2393K	ENSP00000222270:E2393K	E	+	1	0	AD000671.1	40919448	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.964000	0.87933	2.755000	0.94549	0.655000	0.94253	GAG	WBP7	-	pirsf_MeTrfase_trithorax		0.582	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Uniprot_genename	protein_coding		G	NM_014727		36227608	+1	no_errors	ENST00000222270	ensembl	human	known	70_37	missense	SNP	1.000	A
MLLT4	4301	genome.wustl.edu	37	6	168316019	168316019	+	Missense_Mutation	SNP	C	C	A	rs201360618		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr6:168316019C>A	ENST00000447894.2	+	18	2450	c.2450C>A	c.(2449-2451)gCg>gAg	p.A817E	MLLT4_ENST00000366806.2_Missense_Mutation_p.A817E|MLLT4_ENST00000392112.1_Missense_Mutation_p.A801E|MLLT4_ENST00000392108.3_Missense_Mutation_p.A817E|MLLT4_ENST00000351017.4_Missense_Mutation_p.A824E|MLLT4_ENST00000400822.3_Missense_Mutation_p.A816E|MLLT4_ENST00000344191.4_Missense_Mutation_p.A817E			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	817	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TACTGGGGTGCGATTATCCGT	0.537			T	MLL	AL																																			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													93.0	78.0	83.0					6																	168316019		2203	4300	6503	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.2450C>A	6.37:g.168316019C>A	ENSP00000404595:p.Ala817Glu		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.A817E	ENST00000447894.2	37	c.2450		6	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036553	0.54896	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.04809	3.74;3.69;3.75;3.75;3.55;3.64;3.66	5.9	5.9	0.94986	Dilute (1);Dil domain (1);	0.061512	0.64402	D	0.000004	T	0.05868	0.0153	N	0.05124	-0.11	0.80722	D	1	D;D;D;D	0.89917	0.988;1.0;0.973;0.985	D;D;P;P	0.87578	0.961;0.998;0.88;0.88	T	0.60005	-0.7347	10	0.48119	T	0.1	-0.229	20.2789	0.98501	0.0:1.0:0.0:0.0	.	817;816;817;801	P55196;P55196-5;P55196-6;P55196-2	AFAD_HUMAN;.;.;.	E	817;824;817;817;801;817;816;817	ENSP00000341118:A817E;ENSP00000252692:A824E;ENSP00000375956:A817E;ENSP00000355771:A817E;ENSP00000375960:A801E;ENSP00000383623:A816E;ENSP00000404595:A817E	ENSP00000345834:A817E	A	+	2	0	MLLT4	168058868	1.000000	0.71417	0.205000	0.23548	0.002000	0.02628	7.658000	0.83755	2.788000	0.95919	0.650000	0.86243	GCG	MLLT4	-	pfam_Dil_domain,pfscan_Dilute		0.537	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	C	NM_005936		168316019	+1	no_errors	ENST00000366806	ensembl	human	known	70_37	missense	SNP	1.000	A
MPP5	64398	genome.wustl.edu	37	14	67786976	67786976	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr14:67786976G>T	ENST00000261681.4	+	12	2060	c.1399G>T	c.(1399-1401)Gag>Tag	p.E467*	MPP5_ENST00000555925.1_Nonsense_Mutation_p.E433*|ATP6V1D_ENST00000553974.1_Intron	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	467					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		CTTAACCTATGAGGAAATGTC	0.368																																																	0													94.0	90.0	91.0					14																	67786976		2203	4300	6503	SO:0001587	stop_gained	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.1399G>T	14.37:g.67786976G>T	ENSP00000261681:p.Glu467*		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Nonsense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.E467*	ENST00000261681.4	37	c.1399	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	G	39	7.722869	0.98453	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.9299	0.97115	0.0:0.0:1.0:0.0	.	.	.	.	X	467;433	.	ENSP00000261681:E467X	E	+	1	0	MPP5	66856729	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.700000	0.98707	2.769000	0.95229	0.655000	0.94253	GAG	MPP5	-	NULL		0.368	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474		67786976	+1	no_errors	ENST00000261681	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MPP7	143098	genome.wustl.edu	37	10	28420622	28420622	+	Splice_Site	SNP	T	T	C			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr10:28420622T>C	ENST00000375732.1	-	6	575		c.e6-2		MPP7_ENST00000445954.2_Splice_Site|MPP7_ENST00000375719.3_Splice_Site|MPP7_ENST00000481244.1_Splice_Site|MPP7_ENST00000337532.5_Splice_Site|MPP7_ENST00000540098.1_Splice_Site			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)						establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GAGCAAAGCCTGTAATATTCA	0.308																																																	0													72.0	65.0	68.0					10																	28420622		2203	4300	6503	SO:0001630	splice_region_variant	143098			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.316-2A>G	10.37:g.28420622T>C			B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Splice_Site	SNP	-	e5-2	ENST00000375732.1	37	c.316-2	CCDS7158.1	10	.	.	.	.	.	.	.	.	.	.	T	18.50	3.636675	0.67130	.	.	ENSG00000150054	ENST00000375732;ENST00000337532;ENST00000540098;ENST00000375719	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.68	0.77360	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MPP7	28460628	1.000000	0.71417	0.925000	0.36789	0.678000	0.39670	7.844000	0.86867	2.190000	0.69967	0.454000	0.30748	.	MPP7	-	-		0.308	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP7	HGNC	protein_coding	OTTHUMT00000047345.1	T	NM_173496	Intron	28420622	-1	no_errors	ENST00000337532	ensembl	human	known	70_37	splice_site	SNP	0.999	C
MRGPRX1	259249	genome.wustl.edu	37	11	18955962	18955962	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr11:18955962C>T	ENST00000302797.3	-	1	594	c.370G>A	c.(370-372)Gtc>Atc	p.V124I	RP11-583F24.8_ENST00000528646.1_RNA|MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	124					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCCACAGGACGGACAGGCAG	0.602																																																	0													94.0	85.0	88.0					11																	18955962		2194	4286	6480	SO:0001583	missense	259249				CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.370G>A	11.37:g.18955962C>T	ENSP00000305766:p.Val124Ile		Q4V9L2|Q8TDD8|Q8TDD9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.V124I	ENST00000302797.3	37	c.370	CCDS7846.1	11	.	.	.	.	.	.	.	.	.	.	.	14.56	2.570731	0.45798	.	.	ENSG00000170255	ENST00000302797	T	0.65364	-0.15	2.28	-0.0116	0.13991	GPCR, rhodopsin-like superfamily (1);	0.801478	0.11294	N	0.578906	T	0.55049	0.1896	L	0.49455	1.56	0.21782	N	0.999548	B	0.30021	0.265	B	0.37198	0.243	T	0.51268	-0.8727	10	0.45353	T	0.12	.	6.0937	0.20008	0.0:0.6494:0.0:0.3506	.	124	Q96LB2	MRGX1_HUMAN	I	124	ENSP00000305766:V124I	ENSP00000305766:V124I	V	-	1	0	MRGPRX1	18912538	0.000000	0.05858	0.012000	0.15200	0.525000	0.34531	-0.172000	0.09868	-0.003000	0.14444	0.491000	0.48974	GTC	MRGPRX1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.602	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX1	HGNC	protein_coding	OTTHUMT00000369913.1	C	NM_147199		18955962	-1	no_errors	ENST00000302797	ensembl	human	known	70_37	missense	SNP	0.853	T
MTHFD2L	441024	genome.wustl.edu	37	4	75147263	75147263	+	Silent	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr4:75147263C>T	ENST00000395759.2	+	7	954	c.927C>T	c.(925-927)ttC>ttT	p.F309F	MTHFD2L_ENST00000325278.6_Silent_p.F251F	NM_001144978.1	NP_001138450.1	Q9H903	MTD2L_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like	309					folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|tetrahydrofolate interconversion (GO:0035999)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			ATGTGGACTTCGAAGGTAATA	0.338																																																	0													101.0	101.0	101.0					4																	75147263		2203	4300	6503	SO:0001819	synonymous_variant	441024			BC065771	CCDS47075.1	4q13.3	2011-08-03			ENSG00000163738	ENSG00000163738			31865	protein-coding gene	gene with protein product		614047				21163947	Standard	NM_001144978		Approved	MGC72244	uc011cbk.2	Q9H903	OTTHUMG00000157135	ENST00000395759.2:c.927C>T	4.37:g.75147263C>T			Q6P079|Q8N560	Silent	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.F309	ENST00000395759.2	37	c.927	CCDS47075.1	4																																																																																			MTHFD2L	-	pfam_THF_DH/CycHdrlase_NAD-bd_dom,prints_THF_DH/CycHdrlase		0.338	MTHFD2L-202	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2L	HGNC	protein_coding		C	NM_001004346		75147263	+1	no_errors	ENST00000395759	ensembl	human	known	70_37	silent	SNP	1.000	T
MYPN	84665	genome.wustl.edu	37	10	69902782	69902782	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr10:69902782G>A	ENST00000358913.5	+	3	1476	c.988G>A	c.(988-990)Gaa>Aaa	p.E330K	MYPN_ENST00000540630.1_Missense_Mutation_p.E330K|MYPN_ENST00000354393.2_Missense_Mutation_p.E55K|MYPN_ENST00000373675.3_Missense_Mutation_p.E330K	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	330	Ig-like 1.|Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GACCATTGCGGAAGCCTTTGA	0.453																																																	0													120.0	109.0	113.0					10																	69902782		2203	4300	6503	SO:0001583	missense	84665			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.988G>A	10.37:g.69902782G>A	ENSP00000351790:p.Glu330Lys		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E330K	ENST00000358913.5	37	c.988	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	G	36	5.798680	0.96960	.	.	ENSG00000138347	ENST00000354393;ENST00000542332;ENST00000358913;ENST00000540630;ENST00000373675	T;T;T;T	0.69435	1.07;-0.4;-0.4;-0.4	5.59	5.59	0.84812	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80193	0.4578	L	0.59912	1.85	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;0.999	D;D;D;D	0.87578	0.991;0.997;0.998;0.996	T	0.77978	-0.2384	9	.	.	.	.	19.6056	0.95580	0.0:0.0:1.0:0.0	.	330;330;55;330	F5GWA6;Q86TC9-3;Q86TC9-2;Q86TC9	.;.;.;MYPN_HUMAN	K	55;55;330;330;330	ENSP00000346369:E55K;ENSP00000351790:E330K;ENSP00000441668:E330K;ENSP00000362779:E330K	.	E	+	1	0	MYPN	69572788	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.776000	0.99001	2.625000	0.88918	0.655000	0.94253	GAA	MYPN	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.453	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1	G	NM_032578		69902782	+1	no_errors	ENST00000358913	ensembl	human	known	70_37	missense	SNP	1.000	A
NBPF1	55672	genome.wustl.edu	37	1	16889866	16889866	+	3'UTR	SNP	G	G	A	rs3981525		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr1:16889866G>A	ENST00000430580.2	-	0	4879					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CCTAAGTACTGACACCAATTG	0.502																																																	0																																										SO:0001624	3_prime_UTR_variant	55672			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.*572C>T	1.37:g.16889866G>A			Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-		0.502	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	G	NM_017940		16889866	-1	no_errors	ENST00000401007	ensembl	human	known	70_37	rna	SNP	0.000	A
NEUROG2	63973	genome.wustl.edu	37	4	113436223	113436223	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr4:113436223C>A	ENST00000313341.3	-	2	735	c.409G>T	c.(409-411)Gag>Tag	p.E137*	RP11-402J6.1_ENST00000506057.1_RNA|RP11-402J6.1_ENST00000504009.1_RNA	NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	137	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				axon guidance (GO:0007411)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|central nervous system neuron development (GO:0021954)|forebrain development (GO:0030900)|neuron migration (GO:0001764)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	E-box binding (GO:0070888)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		GGGAGCACCTCGCGCAGCGCG	0.637																																																	0													64.0	59.0	60.0					4																	113436223		2203	4300	6503	SO:0001587	stop_gained	63973			AF303002	CCDS3698.1	4q25	2013-05-21			ENSG00000178403	ENSG00000178403		"""Basic helix-loop-helix proteins"""	13805	protein-coding gene	gene with protein product		606624					Standard	NM_024019		Approved	Atoh4, Math4A, ngn-2, bHLHa8, NGN2	uc003ias.3	Q9H2A3	OTTHUMG00000132907	ENST00000313341.3:c.409G>T	4.37:g.113436223C>A	ENSP00000317333:p.Glu137*		Q8N416	Nonsense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.E137*	ENST00000313341.3	37	c.409	CCDS3698.1	4	.	.	.	.	.	.	.	.	.	.	C	37	6.633592	0.97722	.	.	ENSG00000178403	ENST00000313341	.	.	.	3.76	3.76	0.43208	.	0.000000	0.44688	U	0.000437	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-13.3413	13.1517	0.59492	0.0:1.0:0.0:0.0	.	.	.	.	X	137	.	ENSP00000317333:E137X	E	-	1	0	NEUROG2	113655672	0.000000	0.05858	1.000000	0.80357	0.986000	0.74619	0.865000	0.27940	1.931000	0.55961	0.563000	0.77884	GAG	NEUROG2	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.637	NEUROG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROG2	HGNC	protein_coding	OTTHUMT00000256414.1	C	NM_024019		113436223	-1	no_errors	ENST00000313341	ensembl	human	known	70_37	nonsense	SNP	0.995	A
NOS3	4846	genome.wustl.edu	37	7	150707711	150707711	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr7:150707711G>C	ENST00000297494.3	+	22	3069	c.2712G>C	c.(2710-2712)aaG>aaC	p.K904N	NOS3_ENST00000461406.1_Missense_Mutation_p.K698N|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000494791.1_5'Flank	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGAGTGGAAGTGGTTCCGCT	0.677																																																	0													28.0	27.0	27.0					7																	150707711		2202	4296	6498	SO:0001583	missense	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2712G>C	7.37:g.150707711G>C	ENSP00000297494:p.Lys904Asn		Q495E5	Missense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.K904N	ENST00000297494.3	37	c.2712	CCDS5912.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.596808|4.596808	0.86953|0.86953	.|.	.|.	ENSG00000164867|ENSG00000164867	ENST00000297494;ENST00000461406|ENST00000475017	T;T|.	0.33216|.	1.42;1.42|.	5.06|5.06	4.1|4.1	0.47936|0.47936	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.66157|0.66157	0.2761|0.2761	M|M	0.72576|0.72576	2.205|2.205	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.998|.	D;D|.	0.97110|.	1.0;0.992|.	T|T	0.65183|0.65183	-0.6230|-0.6230	10|5	0.72032|.	D|.	0.01|.	-7.3854|-7.3854	10.2731|10.2731	0.43493|0.43493	0.1038:0.0:0.8962:0.0|0.1038:0.0:0.8962:0.0	.|.	698;904|.	E7ESA7;P29474|.	.;NOS3_HUMAN|.	N|T	904;698|198	ENSP00000297494:K904N;ENSP00000417143:K698N|.	ENSP00000297494:K904N|.	K|S	+|+	3|2	2|0	NOS3|NOS3	150338644|150338644	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	2.664000|2.664000	0.46783|0.46783	2.630000|2.630000	0.89119|0.89119	0.491000|0.491000	0.48974|0.48974	AAG|AGT	NOS3	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met		0.677	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000350750.2	G	NM_000603		150707711	+1	no_errors	ENST00000297494	ensembl	human	known	70_37	missense	SNP	1.000	C
NOS3	4846	genome.wustl.edu	37	7	150707745	150707745	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr7:150707745G>T	ENST00000297494.3	+	22	3103	c.2746G>T	c.(2746-2748)Gag>Tag	p.E916*	NOS3_ENST00000461406.1_Nonsense_Mutation_p.E710*|NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000494791.1_5'Flank	NM_000603.4	NP_000594.2	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGAGGTGCTGGAGCAGTTCCC	0.682																																																	0													35.0	34.0	34.0					7																	150707745		2202	4298	6500	SO:0001587	stop_gained	4846				CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000297494.3:c.2746G>T	7.37:g.150707745G>T	ENSP00000297494:p.Glu916*		Q495E5	Nonsense_Mutation	SNP	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.E916*	ENST00000297494.3	37	c.2746	CCDS5912.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	44|44	10.767471|10.767471	0.99464|0.99464	.|.	.|.	ENSG00000164867|ENSG00000164867	ENST00000297494;ENST00000461406|ENST00000475017	.|.	.|.	.|.	5.06|5.06	4.17|4.17	0.49024|0.49024	.|.	0.085756|.	0.47852|.	D|.	0.000209|.	.|T	.|0.62405	.|0.2425	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.60772	.|-0.7197	.|4	0.66056|.	D|.	0.02|.	-23.4378|-23.4378	11.2018|11.2018	0.48745|0.48745	0.089:0.0:0.911:0.0|0.089:0.0:0.911:0.0	.|.	.|.	.|.	.|.	X|C	916;710|209	.|.	ENSP00000297494:E916X|.	E|W	+|+	1|3	0|0	NOS3|NOS3	150338678|150338678	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.809000|0.809000	0.45718|0.45718	6.429000|6.429000	0.73387|0.73387	1.355000|1.355000	0.45865|0.45865	0.491000|0.491000	0.48974|0.48974	GAG|TGG	NOS3	-	pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met		0.682	NOS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS3	HGNC	protein_coding	OTTHUMT00000350750.2	G	NM_000603		150707745	+1	no_errors	ENST00000297494	ensembl	human	known	70_37	nonsense	SNP	1.000	T
HABP2	3026	genome.wustl.edu	37	10	115350427	115350427	+	IGR	SNP	C	C	G			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr10:115350427C>G	ENST00000351270.3	+	0	3009				NRAP_ENST00000369358.4_Silent_p.V1630V|NRAP_ENST00000360478.3_Silent_p.V1587V|NRAP_ENST00000369360.3_Silent_p.V1595V|NRAP_ENST00000359988.3_Silent_p.V1622V	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2						cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	GCCTGTAGTGCACATCACTGG	0.637																																																	0													69.0	69.0	69.0					10																	115350427		2203	4300	6503	SO:0001628	intergenic_variant	4892				CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073		10.37:g.115350427C>G			A8K467|B7Z8U5|F5H5M6|O00663	Silent	SNP	pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin	p.V1630	ENST00000351270.3	37	c.4890	CCDS7577.1	10																																																																																			NRAP	-	smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.637	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRAP	HGNC	protein_coding	OTTHUMT00000050428.1	C	NM_004132		115350427	-1	no_errors	ENST00000369358	ensembl	human	known	70_37	silent	SNP	0.137	G
NTRK3	4916	genome.wustl.edu	37	15	88576179	88576179	+	Silent	SNP	G	G	T	rs372080536		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr15:88576179G>T	ENST00000360948.2	-	13	1655	c.1494C>A	c.(1492-1494)ccC>ccA	p.P498P	NTRK3_ENST00000357724.2_Silent_p.P490P|NTRK3_ENST00000557856.1_Silent_p.P490P|NTRK3_ENST00000540489.2_Silent_p.P498P|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000558676.1_Silent_p.P490P|NTRK3_ENST00000542733.2_Silent_p.P400P|NTRK3_ENST00000355254.2_Silent_p.P498P|NTRK3_ENST00000317501.3_Silent_p.P498P|NTRK3_ENST00000394480.2_Silent_p.P498P	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	498					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCACAGTGTCGGGCCCGGCAT	0.597			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	0													100.0	67.0	78.0					15																	88576179		2201	4299	6500	SO:0001819	synonymous_variant	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1494C>A	15.37:g.88576179G>T			B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P498	ENST00000360948.2	37	c.1494	CCDS32322.1	15																																																																																			NTRK3	-	NULL		0.597	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		G			88576179	-1	no_errors	ENST00000360948	ensembl	human	known	70_37	silent	SNP	0.007	T
OR51F1	256892	genome.wustl.edu	37	11	4790839	4790839	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr11:4790839C>A	ENST00000380383.1	-	1	329	c.330G>T	c.(328-330)atG>atT	p.M110I	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.M103I|MMP26_ENST00000477339.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAAGAAAAAACATCTGGACAA	0.448																																																	0													73.0	71.0	72.0					11																	4790839		2201	4298	6499	SO:0001583	missense	256892			BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.330G>T	11.37:g.4790839C>A	ENSP00000369744:p.Met110Ile			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M110I	ENST00000380383.1	37	c.330		11	.	.	.	.	.	.	.	.	.	.	c	17.17	3.321116	0.60634	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.02944	4.1;4.1	4.91	4.91	0.64330	GPCR, rhodopsin-like superfamily (1);	0.093194	0.46758	D	0.000269	T	0.06554	0.0168	M	0.79343	2.45	0.30726	N	0.747755	P	0.41624	0.757	B	0.40864	0.342	T	0.01424	-1.1358	10	0.87932	D	0	.	11.9998	0.53224	0.1731:0.8269:0.0:0.0	.	110	A6NGY5	O51F1_HUMAN	I	103;110	ENSP00000345163:M103I;ENSP00000369744:M110I	ENSP00000345163:M103I	M	-	3	0	OR51F1	4747415	0.920000	0.31207	1.000000	0.80357	0.947000	0.59692	0.577000	0.23758	2.562000	0.86427	0.580000	0.79431	ATG	OR51F1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.448	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	OR51F1	HGNC	protein_coding		C	NM_001004752		4790839	-1	no_errors	ENST00000380383	ensembl	human	known	70_37	missense	SNP	1.000	A
P4HTM	54681	genome.wustl.edu	37	3	49044174	49044174	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:49044174G>A	ENST00000383729.4	+	9	1714	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000608424.1_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.R509H|WDR6_ENST00000448293.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	448	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.					endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CTGGTCACGCGCGGCACCAAG	0.632																																																	0													51.0	49.0	50.0					3																	49044174		2203	4300	6503	SO:0001583	missense	54681				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1343G>A	3.37:g.49044174G>A	ENSP00000373235:p.Arg448His		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.R509H	ENST00000383729.4	37	c.1526	CCDS43089.1	3	.	.	.	.	.	.	.	.	.	.	G	16.95	3.262443	0.59431	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.59906	0.23	5.47	3.42	0.39159	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.196575	0.47852	D	0.000217	T	0.47248	0.1435	L	0.53249	1.67	0.09310	N	1	P;B	0.46578	0.88;0.238	B;B	0.42188	0.379;0.047	T	0.49283	-0.8956	10	0.52906	T	0.07	-11.8146	3.0841	0.06272	0.2898:0.231:0.4792:0.0	.	509;448	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	H	448;509	ENSP00000373235:R448H	ENSP00000341422:R509H	R	+	2	0	P4HTM	49019178	0.340000	0.24792	0.266000	0.24541	0.994000	0.84299	1.358000	0.34102	1.322000	0.45245	0.650000	0.86243	CGC	P4HTM	-	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph		0.632	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HTM	HGNC	protein_coding	OTTHUMT00000157211.1	G	NM_177938		49044174	+1	no_errors	ENST00000343546	ensembl	human	known	70_37	missense	SNP	0.092	A
P4HTM	54681	genome.wustl.edu	37	3	49044293	49044293	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:49044293G>A	ENST00000383729.4	+	9	1833	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	WDR6_ENST00000395474.3_5'Flank|WDR6_ENST00000415265.2_5'Flank|WDR6_ENST00000608424.1_5'Flank|P4HTM_ENST00000343546.4_Missense_Mutation_p.E549K|WDR6_ENST00000448293.1_5'Flank	NM_177939.2	NP_808808.1	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	488						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CTCACAGCCCGAGTGGGCTCT	0.657																																																	0													24.0	26.0	25.0					3																	49044293		2202	4298	6500	SO:0001583	missense	54681				CCDS2781.2, CCDS43089.1	3p21.31	2009-01-14			ENSG00000178467	ENSG00000178467			28858	protein-coding gene	gene with protein product	"""Prolyl hydroxlase domain-containing 4"", ""hypoxia inducible factor prolyl 4 hydroxylase"""	614584				12163023, 17726031	Standard	XR_245139		Approved	P4H-TM, PHD4, PH4, HIFPH4, FLJ20262, EGLN4, PH-4	uc003cvh.3	Q9NXG6	OTTHUMG00000074057	ENST00000383729.4:c.1462G>A	3.37:g.49044293G>A	ENSP00000373235:p.Glu488Lys		Q6PAG6|Q8TCJ9|Q8WV55|Q96F22|Q9BW77	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E549K	ENST00000383729.4	37	c.1645	CCDS43089.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.625906	0.96671	.	.	ENSG00000178467	ENST00000383729;ENST00000343546	T	0.81163	-1.46	5.51	5.51	0.81932	.	0.126503	0.51477	D	0.000083	T	0.72827	0.3509	N	0.19112	0.55	0.38299	D	0.942931	P;D	0.56521	0.798;0.976	B;B	0.43680	0.299;0.427	T	0.78183	-0.2303	10	0.49607	T	0.09	-31.3429	18.4055	0.90535	0.0:0.0:1.0:0.0	.	549;488	Q9NXG6-3;Q9NXG6	.;P4HTM_HUMAN	K	488;549	ENSP00000373235:E488K	ENSP00000341422:E549K	E	+	1	0	P4HTM	49019297	1.000000	0.71417	0.998000	0.56505	0.918000	0.54935	4.957000	0.63652	2.589000	0.87451	0.655000	0.94253	GAG	P4HTM	-	NULL		0.657	P4HTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P4HTM	HGNC	protein_coding	OTTHUMT00000157211.1	G	NM_177938		49044293	+1	no_errors	ENST00000343546	ensembl	human	known	70_37	missense	SNP	0.998	A
PCDH12	51294	genome.wustl.edu	37	5	141335086	141335086	+	Silent	SNP	G	G	A	rs558542016		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr5:141335086G>A	ENST00000231484.3	-	1	3541	c.2331C>T	c.(2329-2331)ctC>ctT	p.L777L	PCDH12_ENST00000512221.1_5'Flank|AC005740.6_ENST00000607378.1_RNA	NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	777					calcium-dependent cell-cell adhesion (GO:0016339)|glycogen metabolic process (GO:0005977)|homophilic cell adhesion (GO:0007156)|labyrinthine layer development (GO:0060711)|neuron recognition (GO:0008038)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACAGGCACGAGGTGGATGT	0.602																																																	0													54.0	45.0	48.0					5																	141335086		2203	4300	6503	SO:0001819	synonymous_variant	51294			AF231025	CCDS4269.1	5q31.3	2010-01-26			ENSG00000113555	ENSG00000113555		"""Cadherins / Protocadherins : Non-clustered"""	8657	protein-coding gene	gene with protein product		605622				10716726, 10380929	Standard	NM_016580		Approved	VE-cadherin-2	uc003llx.3	Q9NPG4	OTTHUMG00000129658	ENST00000231484.3:c.2331C>T	5.37:g.141335086G>A			Q6UXB6|Q96KB8|Q9H7Y6|Q9H8E0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L777	ENST00000231484.3	37	c.2331	CCDS4269.1	5																																																																																			PCDH12	-	NULL		0.602	PCDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH12	HGNC	protein_coding	OTTHUMT00000251858.1	G	NM_016580		141335086	-1	no_errors	ENST00000231484	ensembl	human	known	70_37	silent	SNP	0.746	A
PCSK5	5125	genome.wustl.edu	37	9	78938202	78938202	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr9:78938202G>A	ENST00000545128.1	+	31	4794	c.4256G>A	c.(4255-4257)aGa>aAa	p.R1419K		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1419	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AAGGAGTGCAGAGGTAAAGAC	0.498																																																	0													44.0	43.0	44.0					9																	78938202		876	1991	2867	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.4256G>A	9.37:g.78938202G>A	ENSP00000446280:p.Arg1419Lys		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.R1419K	ENST00000545128.1	37	c.4256	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	G	2.606	-0.291980	0.05568	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.28069	1.63;1.63	5.35	-0.924	0.10462	.	0.475101	0.23795	N	0.044484	T	0.08758	0.0217	N	0.02368	-0.58	0.38549	D	0.949401	.	.	.	.	.	.	T	0.42310	-0.9459	8	0.02654	T	1	-6.7879	9.7725	0.40598	0.6698:0.0:0.3302:0.0	.	.	.	.	K	1419;1149;1119	ENSP00000446280:R1419K;ENSP00000411654:R1119K	ENSP00000365945:R1149K	R	+	2	0	PCSK5	78128022	0.998000	0.40836	0.977000	0.42913	0.502000	0.33828	0.833000	0.27504	-0.320000	0.08640	0.650000	0.86243	AGA	PCSK5	-	superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_Furin_repeat		0.498	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		G			78938202	+1	no_errors	ENST00000545128	ensembl	human	known	70_37	missense	SNP	0.997	A
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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.E542K(545)|p.E542Q(10)		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)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				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.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		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.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PNLIPRP2	5408	genome.wustl.edu	37	10	118380913	118380913	+	RNA	SNP	G	G	T	rs546878699		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr10:118380913G>T	ENST00000298771.7	+	0	75				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000537242.1_RNA	NR_103727.1		P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process (GO:0019376)|lipid digestion (GO:0044241)|phospholipid catabolic process (GO:0009395)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	acylglycerol lipase activity (GO:0047372)|calcium ion binding (GO:0005509)|galactolipase activity (GO:0047714)|phospholipase activity (GO:0004620)|triglyceride lipase activity (GO:0004806)			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACATGCCTGGGCTGGCCTTT	0.473																																																	0													32.0	29.0	30.0					10																	118380913		1937	4135	6072			5408			M93284		10q26.12	2014-03-14				ENSG00000266200	3.1.1.3		9157	protein-coding gene	gene with protein product		604423				1379598	Standard	NM_005396		Approved	PLRP2	uc001lcq.3	P54317			10.37:g.118380913G>T			A8K627|Q6IB55	RNA	SNP	-	NULL	ENST00000298771.7	37	NULL		10																																																																																			PNLIPRP2	-	-		0.473	PNLIPRP2-004	KNOWN	basic	processed_transcript	PNLIPRP2	HGNC	polymorphic_pseudogene	OTTHUMT00000050546.6	G	NM_005396		118380913	+1	no_errors	ENST00000429325	ensembl	human	known	70_37	rna	SNP	0.009	T
PRPSAP1	5635	genome.wustl.edu	37	17	74324917	74324917	+	Missense_Mutation	SNP	C	C	T	rs375906385		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr17:74324917C>T	ENST00000446526.3	-	7	1107	c.662G>A	c.(661-663)cGt>cAt	p.R221H	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.R118H	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	192					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CAAACCCAGACGCAGTCTCTC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		17126	0.001		0.0	False		,,,				2504	0.0																0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	99.0	71.0	80.0		662	5.7	1.0	17		80	0,8600		0,0,4300	no	missense	PRPSAP1	NM_002766.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	221/386	74324917	1,13005	2203	4300	6503	SO:0001583	missense	5635			D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.662G>A	17.37:g.74324917C>T	ENSP00000414624:p.Arg221His		B2R6M4|Q96H06	Missense_Mutation	SNP	tigrfam_Rib-P_diPkinase	p.R221H	ENST00000446526.3	37	c.662	CCDS11743.2	17	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976482	0.92982	2.27E-4	0.0	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555;ENST00000436498	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	5.73	5.73	0.89815	.	0.053679	0.85682	D	0.000000	T	0.81987	0.4939	L	0.39467	1.215	0.80722	D	1	D;P	0.89917	1.0;0.839	D;B	0.69479	0.964;0.233	T	0.80542	-0.1336	10	0.46703	T	0.11	.	20.2602	0.98440	0.0:1.0:0.0:0.0	.	192;221	Q14558;Q14558-2	KPRA_HUMAN;.	H	221;118;118;118	ENSP00000414624:R221H;ENSP00000314973:R118H;ENSP00000392838:R118H;ENSP00000387494:R118H	ENSP00000314973:R118H	R	-	2	0	PRPSAP1	71836512	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.776000	0.85560	2.861000	0.98227	0.655000	0.94253	CGT	PRPSAP1	-	tigrfam_Rib-P_diPkinase		0.527	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPSAP1	HGNC	protein_coding	OTTHUMT00000342480.2	C	NM_002766		74324917	-1	no_errors	ENST00000446526	ensembl	human	known	70_37	missense	SNP	1.000	T
PTGDR	5729	genome.wustl.edu	37	14	52735240	52735240	+	Silent	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr14:52735240G>A	ENST00000306051.2	+	1	810	c.708G>A	c.(706-708)ccG>ccA	p.P236P	PTGDR_ENST00000553372.1_Silent_p.P236P	NM_000953.2	NP_000944.1	Q13258	PD2R_HUMAN	prostaglandin D2 receptor (DP)	236					adenosine metabolic process (GO:0046085)|cellular response to prostaglandin D stimulus (GO:0071799)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|male sex determination (GO:0030238)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	prostaglandin D receptor activity (GO:0004956)|prostaglandin J receptor activity (GO:0001785)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	AGCGGCACCCGCGCTCCTGCA	0.706																																																	0													34.0	34.0	34.0					14																	52735240		2201	4298	6499	SO:0001819	synonymous_variant	5729			U31332	CCDS9707.1, CCDS61454.1	14q22.1	2012-08-08			ENSG00000168229	ENSG00000168229		"""GPCR / Class A : Prostanoid receptors"""	9591	protein-coding gene	gene with protein product		604687				7642548	Standard	NM_000953		Approved	DP, DP1, PTGDR1	uc001wzq.3	Q13258	OTTHUMG00000140299	ENST00000306051.2:c.708G>A	14.37:g.52735240G>A			G3V5L3|Q13250|Q13251|Q1ZZ52	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt,prints_Prostanoid_rcpt	p.P236	ENST00000306051.2	37	c.708	CCDS9707.1	14																																																																																			PTGDR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Pglndn_D_rcpt		0.706	PTGDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGDR	HGNC	protein_coding	OTTHUMT00000276889.1	G	NM_000953		52735240	+1	no_errors	ENST00000306051	ensembl	human	known	70_37	silent	SNP	0.000	A
RBM27	54439	genome.wustl.edu	37	5	145651103	145651103	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr5:145651103C>T	ENST00000265271.5	+	19	3020	c.2854C>T	c.(2854-2856)Cga>Tga	p.R952*	RBM27_ENST00000506502.1_Nonsense_Mutation_p.R897*	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	952					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCTCAAGGTCGAGGAAGAGG	0.478																																																	0													135.0	129.0	131.0					5																	145651103		1568	3582	5150	SO:0001587	stop_gained	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.2854C>T	5.37:g.145651103C>T	ENSP00000265271:p.Arg952*		Q8IYW9	Nonsense_Mutation	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.R952*	ENST00000265271.5	37	c.2854	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	C	41	8.945968	0.99012	.	.	ENSG00000091009	ENST00000265271	.	.	.	5.05	4.12	0.48240	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	-8.3579	11.3074	0.49342	0.3586:0.6413:0.0:0.0	.	.	.	.	X	952	.	ENSP00000265271:R952X	R	+	1	2	RBM27	145631296	0.460000	0.25776	1.000000	0.80357	0.990000	0.78478	1.004000	0.29822	2.521000	0.84997	0.655000	0.94253	CGA	RBM27	-	NULL		0.478	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	C	XM_291128		145651103	+1	no_errors	ENST00000265271	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RGS3	5998	genome.wustl.edu	37	9	116359190	116359190	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr9:116359190A>G	ENST00000374140.2	+	26	3763	c.3554A>G	c.(3553-3555)tAc>tGc	p.Y1185C	RGS3_ENST00000343817.5_Missense_Mutation_p.Y904C|RGS3_ENST00000394646.3_Missense_Mutation_p.Y578C|RGS3_ENST00000342620.5_Missense_Mutation_p.Y155C|RGS3_ENST00000462143.1_Missense_Mutation_p.Y506C|RGS3_ENST00000374134.3_Missense_Mutation_p.Y506C|RGS3_ENST00000462403.1_Missense_Mutation_p.Y298C|RGS3_ENST00000350696.5_Missense_Mutation_p.Y1185C	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1185	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCTGACCTCTACCTGGACCTT	0.607																																																	0													112.0	97.0	102.0					9																	116359190		2203	4300	6503	SO:0001583	missense	5998			AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3554A>G	9.37:g.116359190A>G	ENSP00000363255:p.Tyr1185Cys		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,pfam_C2_Ca-dep,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_C2_Ca-dep,smart_PDZ,smart_Regulat_G_prot_signal,pfscan_C2_membr_targeting,pfscan_PDZ,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Y1185C	ENST00000374140.2	37	c.3554	CCDS43869.1	9	.	.	.	.	.	.	.	.	.	.	A	22.0	4.231073	0.79688	.	.	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000342620;ENST00000374134;ENST00000462403	T;T;T;T;T;T;T;T	0.04406	3.63;3.63;3.63;3.63;3.63;3.63;3.63;3.63	5.22	5.22	0.72569	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.309084	0.26719	N	0.022860	T	0.35158	0.0922	H	0.97315	3.98	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;1.0;1.0;1.0	T	0.56282	-0.8005	10	0.87932	D	0	.	14.3538	0.66722	1.0:0.0:0.0:0.0	.	578;298;1081;904;1075;1185	B3KUB2;Q5VZ06;P49796-6;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	C	1185;1185;904;578;353;506;155;506;298	ENSP00000363255:Y1185C;ENSP00000259406:Y1185C;ENSP00000340284:Y904C;ENSP00000378141:Y578C;ENSP00000420356:Y506C;ENSP00000343359:Y155C;ENSP00000363249:Y506C;ENSP00000436168:Y298C	ENSP00000343359:Y155C	Y	+	2	0	RGS3	115399011	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.141000	0.94612	1.979000	0.57680	0.454000	0.30748	TAC	RGS3	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.607	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS3	HGNC	protein_coding	OTTHUMT00000055561.3	A	NM_017790		116359190	+1	no_errors	ENST00000350696	ensembl	human	known	70_37	missense	SNP	1.000	G
RIMS2	9699	genome.wustl.edu	37	8	105235920	105235920	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr8:105235920G>T	ENST00000339750.2	+	1	41	c.41G>T	c.(40-42)cGc>cTc	p.R14L	RIMS2_ENST00000436393.2_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000406091.3_Intron			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1250					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCTGCGGGGCGCTCCATGCAG	0.672										HNSCC(12;0.0054)																																							0													14.0	15.0	15.0					8																	105235920		873	1990	2863	SO:0001583	missense	9699			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000339750.2:c.41G>T	8.37:g.105235920G>T	ENSP00000342051:p.Arg14Leu		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R14L	ENST00000339750.2	37	c.41		8	.	.	.	.	.	.	.	.	.	.	G	12.45	1.941591	0.34283	.	.	ENSG00000176406	ENST00000523362;ENST00000339750	T;T	0.16597	2.33;2.33	4.33	4.33	0.51752	.	.	.	.	.	T	0.23289	0.0563	.	.	.	0.25300	N	0.989283	.	.	.	.	.	.	T	0.10451	-1.0629	6	0.30854	T	0.27	.	16.6414	0.85128	0.0:0.0:1.0:0.0	.	.	.	.	L	14	ENSP00000428478:R14L;ENSP00000342051:R14L	ENSP00000342051:R14L	R	+	2	0	RIMS2	105305096	1.000000	0.71417	1.000000	0.80357	0.641000	0.38312	4.469000	0.60169	2.237000	0.73441	0.591000	0.81541	CGC	RIMS2	-	NULL		0.672	RIMS2-201	KNOWN	basic	protein_coding	RIMS2	HGNC	protein_coding		G	NM_001100117		105235920	+1	no_errors	ENST00000339750	ensembl	human	known	70_37	missense	SNP	1.000	T
RLBP1	6017	genome.wustl.edu	37	15	89760507	89760507	+	Nonsense_Mutation	SNP	G	G	A	rs561618945		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr15:89760507G>A	ENST00000268125.5	-	5	629	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_000326.4	NP_000317.1	P12271	RLBP1_HUMAN	retinaldehyde binding protein 1	64					phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	cell body (GO:0044297)|cytosol (GO:0005829)	11-cis retinal binding (GO:0005502)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(1)|prostate(1)|skin(1)	18	Lung NSC(78;0.0472)|all_lung(78;0.089)				Vitamin A(DB00162)	TGCAGCTCTCGCACTGCCTCC	0.642																																																	0													76.0	75.0	75.0					15																	89760507		2200	4299	6499	SO:0001587	stop_gained	6017			BC004199	CCDS32324.1	15q26.1	2007-07-16	2001-11-28			ENSG00000140522			10024	protein-coding gene	gene with protein product		180090	"""retinaldehyde-binding protein 1"""			1733864, 9326942	Standard	NM_000326		Approved	CRALBP	uc002bnl.3	P12271		ENST00000268125.5:c.190C>T	15.37:g.89760507G>A	ENSP00000268125:p.Arg64*		B2R667	Nonsense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.R64*	ENST00000268125.5	37	c.190	CCDS32324.1	15	.	.	.	.	.	.	.	.	.	.	G	39	7.432236	0.98279	.	.	ENSG00000140522	ENST00000268125	.	.	.	4.5	2.35	0.29111	.	0.221648	0.44097	D	0.000491	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-4.8864	10.822	0.46610	0.0:0.0:0.3747:0.6253	.	.	.	.	X	64	.	ENSP00000268125:R64X	R	-	1	2	RLBP1	87561511	1.000000	0.71417	0.546000	0.28166	0.703000	0.40648	4.013000	0.57138	1.050000	0.40346	0.561000	0.74099	CGA	RLBP1	-	pfam_CRAL/TRIO_N_dom,superfamily_CRAL/TRIO_N_dom		0.642	RLBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLBP1	HGNC	protein_coding	OTTHUMT00000421135.1	G	NM_000326		89760507	-1	no_errors	ENST00000268125	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RNF125	54941	genome.wustl.edu	37	18	29648335	29648335	+	Silent	SNP	G	G	A	rs374540528		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr18:29648335G>A	ENST00000217740.3	+	6	1179	c.687G>A	c.(685-687)tcG>tcA	p.S229S	RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	229					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TGAATCACTCGAACACCACAT	0.348																																																	0								G		0,4404		0,0,2202	55.0	57.0	56.0		687	-10.9	0.2	18		56	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	RNF125	NM_017831.3		0,1,6501	AA,AG,GG		0.0116,0.0,0.0077		229/233	29648335	1,13003	2202	4300	6502	SO:0001819	synonymous_variant	54941			AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"""RING-type (C3HC4) zinc fingers"""	21150	protein-coding gene	gene with protein product		610432	"""ring finger protein 125"""				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.687G>A	18.37:g.29648335G>A			Q9NX39	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S229	ENST00000217740.3	37	c.687	CCDS11902.1	18																																																																																			RNF125	-	NULL		0.348	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF125	HGNC	protein_coding	OTTHUMT00000255354.1	G	NM_017831		29648335	+1	no_errors	ENST00000217740	ensembl	human	known	70_37	silent	SNP	0.324	A
RNF17	56163	genome.wustl.edu	37	13	25451154	25451154	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr13:25451154C>T	ENST00000255324.5	+	34	4655	c.4603C>T	c.(4603-4605)Cat>Tat	p.H1535Y	RNF17_ENST00000339524.3_Missense_Mutation_p.H545Y|RNF17_ENST00000381921.1_Missense_Mutation_p.H1493Y	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1535	Tudor 4. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATTCCTTCTCATCTTATGCG	0.413																																																	0													77.0	80.0	79.0					13																	25451154		2203	4300	6503	SO:0001583	missense	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4603C>T	13.37:g.25451154C>T	ENSP00000255324:p.His1535Tyr		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING	p.H1535Y	ENST00000255324.5	37	c.4603	CCDS9308.2	13	.	.	.	.	.	.	.	.	.	.	C	7.311	0.615050	0.14129	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000339524	T;T;T	0.09255	3.0;3.0;3.0	5.66	3.78	0.43462	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.320650	0.26680	N	0.023060	T	0.08846	0.0219	L	0.53249	1.67	0.09310	N	1	B;B;P;B	0.44090	0.012;0.008;0.826;0.015	B;B;B;B	0.31686	0.011;0.006;0.134;0.015	T	0.33420	-0.9869	10	0.62326	D	0.03	-2.253	9.3108	0.37903	0.0:0.6715:0.25:0.0785	.	1531;545;1529;1535	B7Z7S1;Q5T6R1;Q9BXT8-5;Q9BXT8	.;.;.;RNF17_HUMAN	Y	1535;1493;545	ENSP00000255324:H1535Y;ENSP00000371346:H1493Y;ENSP00000344776:H545Y	ENSP00000255324:H1535Y	H	+	1	0	RNF17	24349154	0.003000	0.15002	0.567000	0.28434	0.428000	0.31595	0.852000	0.27764	2.671000	0.90904	0.555000	0.69702	CAT	RNF17	-	pfam_Tudor,smart_Tudor,pfscan_Tudor		0.413	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF17	HGNC	protein_coding	OTTHUMT00000044217.1	C	NM_031994		25451154	+1	no_errors	ENST00000255324	ensembl	human	known	70_37	missense	SNP	0.015	T
RPAP2	79871	genome.wustl.edu	37	1	92789846	92789846	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr1:92789846G>A	ENST00000610020.1	+	8	1478	c.1369G>A	c.(1369-1371)Gaa>Aaa	p.E457K		NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	457					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		AAAAGAAACTGAAAAGTTAAA	0.413																																																	0													57.0	62.0	60.0					1																	92789846		2199	4299	6498	SO:0001583	missense	79871			AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.1369G>A	1.37:g.92789846G>A	ENSP00000476948:p.Glu457Lys		C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	pfam_DUF408	p.E457K	ENST00000610020.1	37	c.1369	CCDS740.1	1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.516175	0.64634	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	5.59	5.59	0.84812	.	0.179595	0.52532	D	0.000071	T	0.50240	0.1604	L	0.43923	1.385	0.36922	D	0.891460	D	0.76494	0.999	P	0.60609	0.877	T	0.49597	-0.8923	8	0.34782	T	0.22	-22.9854	13.1795	0.59647	0.0:0.0:0.7212:0.2788	.	457	Q8IXW5	RPAP2_HUMAN	K	457	.	ENSP00000359368:E457K	E	+	1	0	RPAP2	92562434	1.000000	0.71417	0.984000	0.44739	0.941000	0.58515	3.586000	0.53950	2.644000	0.89710	0.586000	0.80456	GAA	RPAP2	-	NULL		0.413	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP2	HGNC	protein_coding	OTTHUMT00000028368.2	G	NM_024813		92789846	+1	no_errors	ENST00000370343	ensembl	human	known	70_37	missense	SNP	0.525	A
RXFP1	59350	genome.wustl.edu	37	4	159568153	159568153	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr4:159568153G>C	ENST00000307765.5	+	16	1807	c.1556G>C	c.(1555-1557)aGa>aCa	p.R519T	RXFP1_ENST00000470033.1_Missense_Mutation_p.R486T|RXFP1_ENST00000343542.5_Missense_Mutation_p.R471T|RXFP1_ENST00000460056.2_Missense_Mutation_p.R438T|RXFP1_ENST00000448688.2_Missense_Mutation_p.R414T	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	519					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|lung connective tissue development (GO:0060427)|nipple morphogenesis (GO:0060658)|parturition (GO:0007567)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TATCCTTTTAGATGTGTGAGA	0.358																																																	0													126.0	115.0	119.0					4																	159568153		1859	4104	5963	SO:0001583	missense	59350			AF190500	CCDS43276.1, CCDS58929.1, CCDS58930.1, CCDS75204.1, CCDS75205.1, CCDS75206.1	4q31.3	2012-08-08	2006-05-09	2006-05-09	ENSG00000171509	ENSG00000171509		"""GPCR / Class A : Relaxin family peptide receptors"""	19718	protein-coding gene	gene with protein product		606654	"""leucine-rich repeat-containing G protein-coupled receptor 7"""	LGR7		15956688, 16507880	Standard	NM_021634		Approved	RXFPR1	uc003ipz.3	Q9HBX9	OTTHUMG00000149973	ENST00000307765.5:c.1556G>C	4.37:g.159568153G>C	ENSP00000303248:p.Arg519Thr		B4DHD1|B4DTV2|Q2M215|Q3KU24|Q3KU25|Q3KU26	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt	p.R519T	ENST00000307765.5	37	c.1556	CCDS43276.1	4	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267927	0.59540	.	.	ENSG00000171509	ENST00000460056;ENST00000307765;ENST00000448688;ENST00000343542;ENST00000470033;ENST00000440678	T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99	5.5	5.5	0.81552	GPCR, rhodopsin-like superfamily (1);	0.152052	0.56097	D	0.000021	T	0.54367	0.1854	M	0.76170	2.325	0.49051	D	0.999748	P;P;P;P;P;B;P;P	0.45768	0.607;0.866;0.464;0.57;0.735;0.037;0.776;0.607	B;P;B;B;B;B;B;B	0.46208	0.41;0.507;0.41;0.287;0.36;0.071;0.41;0.41	T	0.60016	-0.7345	10	0.62326	D	0.03	.	19.4039	0.94641	0.0:0.0:1.0:0.0	.	530;546;414;471;486;438;389;519	B3KV27;B4DGP2;B4DHD1;Q9HBX9-4;Q9HBX9-2;E9PCA3;Q59H16;Q9HBX9	.;.;.;.;.;.;.;RXFP1_HUMAN	T	438;519;414;471;486;389	ENSP00000423306:R438T;ENSP00000303248:R519T;ENSP00000414885:R414T;ENSP00000345889:R471T;ENSP00000420712:R486T	ENSP00000303248:R519T	R	+	2	0	RXFP1	159787603	1.000000	0.71417	0.854000	0.33618	0.980000	0.70556	3.248000	0.51430	2.586000	0.87340	0.650000	0.86243	AGA	RXFP1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.358	RXFP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXFP1	HGNC	protein_coding	OTTHUMT00000314865.1	G	NM_021634		159568153	+1	no_errors	ENST00000307765	ensembl	human	known	70_37	missense	SNP	1.000	C
SERPINB9	5272	genome.wustl.edu	37	6	2890801	2890801	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr6:2890801C>A	ENST00000380698.4	-	7	816	c.727G>T	c.(727-729)Gaa>Taa	p.E243*		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	243					cellular response to estrogen stimulus (GO:0071391)|immune response (GO:0006955)|mast cell mediated immunity (GO:0002448)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				AGACTTTTTTCCACCTGAAAG	0.448																																																	0													65.0	65.0	65.0					6																	2890801		2203	4300	6503	SO:0001587	stop_gained	5272			L40378	CCDS4478.1	6p25.2	2014-02-18	2005-08-18		ENSG00000170542	ENSG00000170542		"""Serine (or cysteine) peptidase inhibitors"""	8955	protein-coding gene	gene with protein product		601799	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 9"""	PI9		8530382, 9858835, 24172014	Standard	NM_004155		Approved	CAP3	uc003mug.4	P50453	OTTHUMG00000014131	ENST00000380698.4:c.727G>T	6.37:g.2890801C>A	ENSP00000370074:p.Glu243*		B2RBW3|Q5TD03	Nonsense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin	p.E243*	ENST00000380698.4	37	c.727	CCDS4478.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.629035	0.97718	.	.	ENSG00000170542	ENST00000380698	.	.	.	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.4207	0.87514	0.0:1.0:0.0:0.0	.	.	.	.	X	243	.	ENSP00000370074:E243X	E	-	1	0	SERPINB9	2835800	1.000000	0.71417	0.995000	0.50966	0.966000	0.64601	7.398000	0.79919	2.502000	0.84385	0.655000	0.94253	GAA	SERPINB9	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.448	SERPINB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB9	HGNC	protein_coding	OTTHUMT00000039656.1	C			2890801	-1	no_errors	ENST00000380698	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SLC18B1	116843	genome.wustl.edu	37	6	133111362	133111362	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr6:133111362C>T	ENST00000275227.4	-	3	329	c.233G>A	c.(232-234)tGt>tAt	p.C78Y	SLC18B1_ENST00000367918.1_Splice_Site|SLC18B1_ENST00000460518.1_5'UTR|SLC18B1_ENST00000538764.1_Start_Codon_SNP_p.M1I	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	78					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											CAAAGCAAAACATCCAAAGAT	0.308																																																	0													76.0	75.0	75.0					6																	133111362		2196	4296	6492	SO:0001583	missense	116843			AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"""Solute carriers"""	21573	protein-coding gene	gene with protein product		613361	"""chromosome 6 open reading frame 192"""	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.233G>A	6.37:g.133111362C>T	ENSP00000275227:p.Cys78Tyr		A8K1K3|B3KW77|Q6ISF2	Splice_Site	SNP	-	e3+1	ENST00000275227.4	37	c.232+1	CCDS5163.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.17|17.17|17.17	3.322437|3.322437|3.322437	0.60634|0.60634|0.60634	.|.|.	.|.|.	ENSG00000146409|ENSG00000146409|ENSG00000146409	ENST00000367919;ENST00000367918|ENST00000275227|ENST00000538764	.|T|T	.|0.57907|0.30182	.|0.37|1.54	5.08|5.08|5.08	3.25|3.25|3.25	0.37280|0.37280|0.37280	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	.|0.236362|.	.|0.51477|.	.|D|.	.|0.000084|.	.|T|T	.|0.12689|0.12689	.|0.0308|0.0308	M|M|M	0.67953|0.67953|0.67953	2.075|2.075|2.075	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B|B	.|0.22211|0.06786	.|0.066|0.001	.|B|B	.|0.32393|0.06405	.|0.145|0.002	.|T|T	.|0.38178|0.38178	.|-0.9673|-0.9673	.|10|9	.|0.02654|0.02654	.|T|T	.|1|1	.|-11.0936|-11.0936	15.1333|15.1333|15.1333	0.72542|0.72542|0.72542	0.0:0.7311:0.2689:0.0|0.0:0.7311:0.2689:0.0|0.0:0.7311:0.2689:0.0	.|.|.	.|78|1	.|Q6NT16|B7Z1S5	.|CF192_HUMAN|.	.|Y|I	-1|78|1	.|ENSP00000275227:C78Y|ENSP00000444098:M1I	.|ENSP00000275227:C78Y|ENSP00000444098:M1I	.|C|M	-|-|-	.|2|3	.|0|0	C6orf192|C6orf192|C6orf192	133153055|133153055|133153055	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.951000|0.951000|0.951000	0.60555|0.60555|0.60555	4.238000|4.238000|4.238000	0.58688|0.58688|0.58688	0.607000|0.607000|0.607000	0.29982|0.29982|0.29982	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|TGT|ATG	SLC18B1	-	-		0.308	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18B1	HGNC	protein_coding	OTTHUMT00000042273.1	C	NM_052831		133111362	-1	no_errors	ENST00000367918	ensembl	human	known	70_37	splice_site	SNP	1.000	T
SLFN13	146857	genome.wustl.edu	37	17	33772595	33772595	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr17:33772595C>A	ENST00000285013.6	-	3	380	c.105G>T	c.(103-105)caG>caT	p.Q35H	SLFN13_ENST00000526861.1_Missense_Mutation_p.Q35H|SLFN13_ENST00000534689.1_Intron|SLFN13_ENST00000533791.1_Missense_Mutation_p.Q35H|SLFN13_ENST00000360502.2_Intron|SLFN13_ENST00000542635.1_Missense_Mutation_p.Q35H	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	35						intracellular (GO:0005622)	ATP binding (GO:0005524)			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCTGAGTTTTCTGTAGCTTTT	0.493																																																	0													94.0	93.0	94.0					17																	33772595		2203	4300	6503	SO:0001583	missense	146857			AL832726	CCDS32620.1	17q12	2006-04-05				ENSG00000154760			26481	protein-coding gene	gene with protein product		614957				9846487	Standard	NM_144682		Approved	FLJ31952	uc002hjl.2	Q68D06		ENST00000285013.6:c.105G>T	17.37:g.33772595C>A	ENSP00000285013:p.Gln35His		E1P645|Q658M1|Q6ZS51|Q96A81	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.Q35H	ENST00000285013.6	37	c.105	CCDS32620.1	17	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252582	0.39797	.	.	ENSG00000154760	ENST00000285013;ENST00000526861;ENST00000542635;ENST00000524511	T;T;T;T	0.23348	4.51;4.51;4.51;1.91	3.08	-1.82	0.07857	.	1.132980	0.06974	U	0.818571	T	0.32010	0.0815	M	0.63428	1.95	0.09310	N	1	D	0.56968	0.978	P	0.51615	0.675	T	0.30060	-0.9991	10	0.56958	D	0.05	.	3.9584	0.09399	0.0:0.2974:0.4254:0.2772	.	35	Q68D06	SLN13_HUMAN	H	35	ENSP00000285013:Q35H;ENSP00000434439:Q35H;ENSP00000444016:Q35H;ENSP00000433181:Q35H	ENSP00000285013:Q35H	Q	-	3	2	SLFN13	30796708	0.000000	0.05858	0.001000	0.08648	0.146000	0.21551	-1.970000	0.01504	-0.180000	0.10637	0.205000	0.17691	CAG	SLFN13	-	NULL		0.493	SLFN13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN13	HGNC	protein_coding	OTTHUMT00000381883.1	C	NM_144682		33772595	-1	no_errors	ENST00000285013	ensembl	human	known	70_37	missense	SNP	0.000	A
SPATA5L1	79029	genome.wustl.edu	37	15	45707786	45707787	+	Splice_Site	INS	-	-	ATTTC			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr15:45707786_45707787insATTTC	ENST00000305560.6	+	5	1745_1746	c.1646_1647insATTTC	c.(1645-1650)atattt>atATTTCattt	p.-550fs	SPATA5L1_ENST00000559860.1_Splice_Site_p.-550fs	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1							cytoplasm (GO:0005737)	ATP binding (GO:0005524)			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TAACAAAAGATATTTCGACAAG	0.317																																																	0																																										SO:0001630	splice_region_variant	79029			AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.1645-1->ATTTC	15.37:g.45707787_45707791dupATTTC			C9JHR5|Q9H8W7|Q9HA41	Frame_Shift_Ins	INS	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase	p.R551fs	ENST00000305560.6	37	c.1646_1647	CCDS10123.1	15																																																																																			SPATA5L1	-	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase		0.317	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SPATA5L1	HGNC	protein_coding	OTTHUMT00000254218.1	-	NM_024063	Frame_Shift_Ins	45707787	+1	no_errors	ENST00000305560	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.981	ATTTC
STXBP4	252983	genome.wustl.edu	37	17	53077107	53077107	+	Silent	SNP	C	C	G			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr17:53077107C>G	ENST00000376352.2	+	6	609	c.402C>G	c.(400-402)gcC>gcG	p.A134A	STXBP4_ENST00000434978.2_Silent_p.A134A|STXBP4_ENST00000299341.4_Silent_p.A59A|STXBP4_ENST00000398391.2_Silent_p.A59A|STXBP4_ENST00000405898.1_Silent_p.A134A	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	134					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GACCTCAAGCCTCAACATTAA	0.373																																																	0													94.0	89.0	91.0					17																	53077107		2203	4300	6503	SO:0001819	synonymous_variant	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.402C>G	17.37:g.53077107C>G			Q8IVZ5	Silent	SNP	pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.A134	ENST00000376352.2	37	c.402	CCDS11584.2	17																																																																																			STXBP4	-	NULL		0.373	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1	C	NM_178509		53077107	+1	no_errors	ENST00000376352	ensembl	human	known	70_37	silent	SNP	0.055	G
SUV39H2	79723	genome.wustl.edu	37	10	14938928	14938928	+	Silent	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr10:14938928G>A	ENST00000354919.6	+	3	261	c.261G>A	c.(259-261)ccG>ccA	p.P87P	SUV39H2_ENST00000313519.5_Silent_p.P27P|SUV39H2_ENST00000378325.3_Silent_p.P87P	NM_001193424.1	NP_001180353.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	87	Chromo. {ECO:0000255|PROSITE- ProRule:PRU00053}.				cell differentiation (GO:0030154)|chromatin assembly or disassembly (GO:0006333)|chromatin remodeling (GO:0006338)|histone H3-K9 dimethylation (GO:0036123)|histone H3-K9 trimethylation (GO:0036124)|male meiosis (GO:0007140)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription, DNA-templated (GO:0045892)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|chromosome, centromeric region (GO:0000775)|nuclear heterochromatin (GO:0005720)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						TGAAGTGCCCGTTACTGCTTC	0.328																																																	0													69.0	75.0	73.0					10																	14938928		2203	4300	6503	SO:0001819	synonymous_variant	79723			AK027067	CCDS7104.1, CCDS53493.1, CCDS53494.1	10p13	2011-07-01			ENSG00000152455	ENSG00000152455		"""Chromatin-modifying enzymes / K-methyltransferases"""	17287	protein-coding gene	gene with protein product		606503				11094092	Standard	NM_001193424		Approved	FLJ23414, KMT1B	uc021png.1	Q9H5I1	OTTHUMG00000017718	ENST00000354919.6:c.261G>A	10.37:g.14938928G>A			D3DRT4|Q5JSS4|Q5JSS5|Q6I9Y3|Q8ND06	Missense_Mutation	SNP	NULL	p.V39I	ENST00000354919.6	37	c.115	CCDS53494.1	10																																																																																			SUV39H2	-	NULL		0.328	SUV39H2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SUV39H2	HGNC	protein_coding	OTTHUMT00000046947.2	G	NM_024670		14938928	+1	no_errors	ENST00000378331	ensembl	human	known	70_37	missense	SNP	0.917	A
TBX4	9496	genome.wustl.edu	37	17	59533881	59533881	+	Silent	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr17:59533881C>T	ENST00000240335.1	+	1	75	c.30C>T	c.(28-30)agC>agT	p.S10S	TBX4_ENST00000393853.4_Silent_p.S10S	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	10					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						TGTCCGAGAGCGAGGAGGCCT	0.736																																																	0													12.0	11.0	11.0					17																	59533881		2171	4272	6443	SO:0001819	synonymous_variant	9496			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.30C>T	17.37:g.59533881C>T			A5PKU7|B2RMT1|B7ZLV3	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box	p.S10	ENST00000240335.1	37	c.30	CCDS11629.1	17																																																																																			TBX4	-	NULL		0.736	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TBX4	HGNC	protein_coding	OTTHUMT00000449649.1	C	NM_018488		59533881	+1	no_errors	ENST00000393853	ensembl	human	known	70_37	silent	SNP	0.996	T
TFAP2E	339488	genome.wustl.edu	37	1	36056287	36056287	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr1:36056287C>A	ENST00000373235.3	+	6	1165	c.957C>A	c.(955-957)ttC>ttA	p.F319L		NM_178548.3	NP_848643.2			transcription factor AP-2 epsilon (activating enhancer binding protein 2 epsilon)											endometrium(1)|large_intestine(1)	2		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				AGACGGAGTTCCCAGCCAAGG	0.657																																																	0													60.0	47.0	52.0					1																	36056287		2203	4300	6503	SO:0001583	missense	339488			BC041175	CCDS393.2	1p34.3	2008-02-05			ENSG00000116819	ENSG00000116819			30774	protein-coding gene	gene with protein product		614428				14636996	Standard	NM_178548		Approved	AP2E	uc010ohy.2	Q6VUC0	OTTHUMG00000004388	ENST00000373235.3:c.957C>A	1.37:g.36056287C>A	ENSP00000362332:p.Phe319Leu			Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C	p.F319L	ENST00000373235.3	37	c.957	CCDS393.2	1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.410406	0.83340	.	.	ENSG00000116819	ENST00000373235	D	0.97279	-4.32	5.65	2.71	0.32032	Transcription factor AP-2, C-terminal (1);	0.052394	0.85682	D	0.000000	D	0.97760	0.9265	M	0.89534	3.04	0.80722	D	1	D	0.56968	0.978	P	0.54815	0.761	D	0.97677	1.0170	10	0.87932	D	0	-13.8697	9.9668	0.41730	0.0:0.7315:0.0:0.2685	.	319	Q6VUC0	AP2E_HUMAN	L	319	ENSP00000362332:F319L	ENSP00000362332:F319L	F	+	3	2	TFAP2E	35828874	0.996000	0.38824	1.000000	0.80357	0.949000	0.60115	0.456000	0.21859	1.381000	0.46364	0.555000	0.69702	TTC	TFAP2E	-	pfam_TF_AP2_C		0.657	TFAP2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2E	HGNC	protein_coding	OTTHUMT00000012732.1	C	NM_178548		36056287	+1	no_errors	ENST00000373235	ensembl	human	known	70_37	missense	SNP	1.000	A
TIMM44	10469	genome.wustl.edu	37	19	7992965	7992965	+	Silent	SNP	G	G	A	rs369918101		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr19:7992965G>A	ENST00000270538.3	-	11	1393	c.1125C>T	c.(1123-1125)gtC>gtT	p.V375V	TIMM44_ENST00000598968.1_5'UTR|CTD-3193O13.8_ENST00000594308.1_RNA|CTXN1_ENST00000318978.4_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	375					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						TGCTTACGTCGACGTTGTCAA	0.642																																																	0													126.0	91.0	103.0					19																	7992965		2203	4300	6503	SO:0001819	synonymous_variant	10469			AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.1125C>T	19.37:g.7992965G>A			A8K0R9|D6W664|Q8N193	Silent	SNP	pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44	p.V375	ENST00000270538.3	37	c.1125	CCDS12192.1	19																																																																																			TIMM44	-	pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44		0.642	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	TIMM44	HGNC	protein_coding	OTTHUMT00000461596.3	G			7992965	-1	no_errors	ENST00000270538	ensembl	human	known	70_37	silent	SNP	0.002	A
TMEM14B	81853	genome.wustl.edu	37	6	10756863	10756864	+	3'UTR	INS	-	-	AA	rs57806113|rs398065562		TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr6:10756863_10756864insAA	ENST00000379542.5	+	0	624_625				TMEM14B_ENST00000473276.1_3'UTR|TMEM14B_ENST00000467317.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000379530.3_3'UTR|TMEM14B_ENST00000481240.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_030969.3	NP_112231.3	Q9NUH8	TM14B_HUMAN	transmembrane protein 14B							integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2)	11	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)				ACATTTTACCTAAAAAAAAAAA	0.366																																																	0																																										SO:0001624	3_prime_UTR_variant	81853			AL024498	CCDS4515.1, CCDS47372.1, CCDS75395.1, CCDS75396.1, CCDS75397.1	6p25.1-p23	2008-08-12			ENSG00000137210	ENSG00000137210			21384	protein-coding gene	gene with protein product							Standard	NM_030969		Approved	MGC1223	uc003mzk.4	Q9NUH8	OTTHUMG00000014246	ENST00000379542.5:c.*113->AA	6.37:g.10756872_10756873dupAA			Q5THN7|Q5THN8|Q96IX7|Q9BVN8	RNA	INS	-	NULL	ENST00000379542.5	37	NULL	CCDS4515.1	6																																																																																			TMEM14B	-	-		0.366	TMEM14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM14B	HGNC	protein_coding	OTTHUMT00000039836.1	-	NM_030969		10756864	+1	no_errors	ENST00000486421	ensembl	human	known	70_37	rna	INS	0.029:0.005	AA
TPRXL	348825	genome.wustl.edu	37	3	14106354	14106354	+	Silent	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:14106354C>T	ENST00000424053.1	+	3	1225	c.678C>T	c.(676-678)agC>agT	p.S226S	TPRXL_ENST00000429201.1_Silent_p.S226S|TPRXL_ENST00000326972.8_Silent_p.S226S|TPRXL_ENST00000532753.1_Intron			Q17RH7	TPRXL_HUMAN	tetra-peptide repeat homeobox-like	0	Ser-rich.									endometrium(1)	1						gcagcagcagccccagcagca	0.701																																																	0																																										SO:0001819	synonymous_variant	348825			AK092426		3p25.1	2011-06-20			ENSG00000180438	ENSG00000180438		"""Homeoboxes / PRD class"""	32178	pseudogene	pseudogene		611167					Standard	NR_002223		Approved	FLJ35107	uc003byg.3	Q17RH7	OTTHUMG00000155509	ENST00000424053.1:c.678C>T	3.37:g.14106354C>T			Q8NAM5	Silent	SNP	NULL	p.S226	ENST00000424053.1	37	c.678		3																																																																																			TPRXL	-	NULL		0.701	TPRXL-003	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	TPRXL	HGNC	protein_coding	OTTHUMT00000340436.1	C	NR_002223		14106354	+1	no_errors	ENST00000326972	ensembl	human	known	70_37	silent	SNP	0.580	T
TRAF7	84231	genome.wustl.edu	37	16	2223241	2223241	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr16:2223241G>A	ENST00000326181.6	+	10	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	285					activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of MAPK cascade (GO:0043410)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic vesicle (GO:0031410)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TTGCCGCTTCGAGGGCCTGAA	0.637																																																	0													74.0	57.0	62.0					16																	2223241		2197	4300	6497	SO:0001583	missense	84231			AL136921	CCDS10461.1	16p13.3	2013-01-10	2012-02-23	2004-06-04	ENSG00000131653	ENSG00000131653		"""RING-type (C3HC4) zinc fingers"", ""WD repeat domain containing"""	20456	protein-coding gene	gene with protein product		606692	"""ring finger and WD repeat domain 1"", ""TNF receptor-associated factor 7"""	RFWD1		11230166, 15001576	Standard	NM_032271		Approved	RNF119, DKFZp586I021, MGC7807	uc002cow.3	Q6Q0C0	OTTHUMG00000128826	ENST00000326181.6:c.853G>A	16.37:g.2223241G>A	ENSP00000318944:p.Glu285Lys		Q9H073	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.E285K	ENST00000326181.6	37	c.853	CCDS10461.1	16	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739757	0.49045	.	.	ENSG00000131653	ENST00000326181	T	0.26223	1.75	4.6	3.65	0.41850	Zinc finger, TRAF-type (1);TRAF-like (1);	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	L	0.32530	0.975	0.80722	D	1	D	0.71674	0.998	P	0.53988	0.739	T	0.05007	-1.0912	10	0.72032	D	0.01	-40.1316	11.5837	0.50906	0.0865:0.0:0.9135:0.0	.	285	Q6Q0C0	TRAF7_HUMAN	K	285	ENSP00000318944:E285K	ENSP00000318944:E285K	E	+	1	0	TRAF7	2163242	1.000000	0.71417	0.958000	0.39756	0.982000	0.71751	9.551000	0.98112	1.140000	0.42260	0.561000	0.74099	GAG	TRAF7	-	superfamily_TRAF-like,pfscan_Znf_TRAF		0.637	TRAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF7	HGNC	protein_coding	OTTHUMT00000250762.1	G	NM_032271		2223241	+1	no_errors	ENST00000326181	ensembl	human	known	70_37	missense	SNP	1.000	A
TRANK1	9881	genome.wustl.edu	37	3	36874141	36874141	+	Silent	SNP	G	G	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:36874141G>T	ENST00000429976.2	-	21	7048	c.6801C>A	c.(6799-6801)atC>atA	p.I2267I	TRANK1_ENST00000301807.6_Silent_p.I1717I|TRANK1_ENST00000428977.2_Silent_p.I1717I	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2267							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACAGAAAGTGGATGTACTCCT	0.468																																																	0													81.0	79.0	80.0					3																	36874141		1871	4095	5966	SO:0001819	synonymous_variant	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6801C>A	3.37:g.36874141G>T			Q8N8K0	Silent	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.I2267	ENST00000429976.2	37	c.6801	CCDS46789.2	3																																																																																			TRANK1	-	NULL		0.468	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		G	NM_014831		36874141	-1	no_errors	ENST00000429976	ensembl	human	known	70_37	silent	SNP	0.685	T
TRHR	7201	genome.wustl.edu	37	8	110100474	110100474	+	Silent	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr8:110100474C>T	ENST00000518632.1	+	2	1084	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L	TRHR_ENST00000311762.2_Silent_p.L245L			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	245					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	thyrotropin-releasing hormone receptor activity (GO:0004997)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GAACACAAATCTGAATGTAAA	0.358																																																	0													45.0	45.0	45.0					8																	110100474		2200	4300	6500	SO:0001819	synonymous_variant	7201				CCDS6311.1	8q23.1	2013-09-20			ENSG00000174417	ENSG00000174417			12299	protein-coding gene	gene with protein product		188545				8128317	Standard	NM_003301		Approved		uc003ymz.4	P34981	OTTHUMG00000164910	ENST00000518632.1:c.733C>T	8.37:g.110100474C>T			Q2M339	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Trelhrm_rcpt,prints_Thyrotropin_RHR,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.L245	ENST00000518632.1	37	c.733	CCDS6311.1	8																																																																																			TRHR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.358	TRHR-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	TRHR	HGNC	protein_coding	OTTHUMT00000380892.1	C			110100474	+1	no_errors	ENST00000311762	ensembl	human	known	70_37	silent	SNP	0.060	T
TSSK2	23617	genome.wustl.edu	37	22	19119974	19119974	+	Silent	SNP	G	G	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr22:19119974G>T	ENST00000399635.2	+	1	1654	c.1062G>T	c.(1060-1062)ggG>ggT	p.G354G	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	354					multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CTGAGGTGGGGAAAGCAAGCA	0.617																																																	0													44.0	46.0	45.0					22																	19119974		2180	4267	6447	SO:0001819	synonymous_variant	23617			AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.1062G>T	22.37:g.19119974G>T			Q8IY55	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G354	ENST00000399635.2	37	c.1062	CCDS13755.1	22																																																																																			TSSK2	-	NULL		0.617	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSK2	HGNC	protein_coding	OTTHUMT00000316431.1	G			19119974	+1	no_errors	ENST00000399635	ensembl	human	known	70_37	silent	SNP	0.998	T
TTN	7273	genome.wustl.edu	37	2	179482768	179482768	+	Silent	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr2:179482768C>T	ENST00000591111.1	-	203	42611	c.42387G>A	c.(42385-42387)gtG>gtA	p.V14129V	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Silent_p.V6830V|TTN_ENST00000460472.2_Silent_p.V6705V|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.V15770V|TTN_ENST00000342992.6_Silent_p.V13202V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Silent_p.V6897V|TTN-AS1_ENST00000604956.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14129	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAATCGATTCACATCAGTGA	0.423																																																	0													77.0	75.0	75.0					2																	179482768		1953	4147	6100	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.42387G>A	2.37:g.179482768C>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.V13202	ENST00000591111.1	37	c.39606		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.423	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179482768	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	T
WDR6	11180	genome.wustl.edu	37	3	49048913	49048913	+	Intron	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:49048913G>A	ENST00000608424.1	+	2	139				WDR6_ENST00000489684.1_Intron|WDR6_ENST00000395474.3_Intron|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Intron			Q9NNW5	WDR6_HUMAN	WD repeat domain 6						cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		gcacccggccGAGACCAAGGA	0.473																																																	0																																										SO:0001627	intron_variant	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.101-155G>A	3.37:g.49048913G>A			B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	NULL	p.E54K	ENST00000608424.1	37	c.160		3	.	.	.	.	.	.	.	.	.	.	g	11.71	1.720522	0.30503	.	.	ENSG00000178252	ENST00000438660	T	0.47528	0.84	2.28	2.28	0.28536	.	.	.	.	.	T	0.28400	0.0702	.	.	.	0.23950	N	0.996376	.	.	.	.	.	.	T	0.18335	-1.0340	6	0.12430	T	0.62	.	8.1173	0.30950	0.0:0.0:1.0:0.0	.	.	.	.	K	54	ENSP00000387692:E54K	ENSP00000387692:E54K	E	+	1	0	WDR6	49023917	0.027000	0.19231	0.072000	0.20136	0.364000	0.29643	1.551000	0.36233	1.585000	0.49928	0.457000	0.33378	GAG	WDR6	-	NULL		0.473	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49048913	+1	no_errors	ENST00000452875	ensembl	human	known	70_37	missense	SNP	0.057	A
WDR6	11180	genome.wustl.edu	37	3	49049889	49049889	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:49049889G>A	ENST00000608424.1	+	2	961	c.922G>A	c.(922-924)Gag>Aag	p.E308K	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000395474.3_Missense_Mutation_p.E338K|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.E257K			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	308					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		AGCTGCCCATGAGAGGCAGGC	0.622																																																	0													59.0	63.0	62.0					3																	49049889		2203	4300	6503	SO:0001583	missense	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.922G>A	3.37:g.49049889G>A	ENSP00000477389:p.Glu308Lys		B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E338K	ENST00000608424.1	37	c.1012		3	.	.	.	.	.	.	.	.	.	.	G	18.31	3.596158	0.66332	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;D	0.90069	-0.15;-2.61	5.52	3.62	0.41486	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.178035	0.49305	D	0.000153	D	0.82976	0.5154	L	0.39085	1.19	0.32341	N	0.559811	P;P;P	0.47034	0.889;0.817;0.606	B;B;B	0.43658	0.426;0.284;0.372	T	0.82608	-0.0373	10	0.23302	T	0.38	-30.8656	11.0478	0.47870	0.0765:0.1325:0.7911:0.0	.	179;308;257	B4DK45;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	K	338;257	ENSP00000378857:E338K;ENSP00000413432:E257K	ENSP00000378857:E338K	E	+	1	0	WDR6	49024893	0.983000	0.35010	0.956000	0.39512	0.990000	0.78478	4.002000	0.57053	2.594000	0.87642	0.561000	0.74099	GAG	WDR6	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.622	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49049889	+1	no_errors	ENST00000395474	ensembl	human	known	70_37	missense	SNP	0.899	A
WDR6	11180	genome.wustl.edu	37	3	49049891	49049891	+	Silent	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:49049891G>A	ENST00000608424.1	+	2	963	c.924G>A	c.(922-924)gaG>gaA	p.E308E	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000395474.3_Silent_p.E338E|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Silent_p.E257E			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	308					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CTGCCCATGAGAGGCAGGCCT	0.622																																																	0													60.0	64.0	62.0					3																	49049891		2203	4300	6503	SO:0001819	synonymous_variant	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.924G>A	3.37:g.49049891G>A			B4DHK2|Q3MIT1|Q9UF63	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E338	ENST00000608424.1	37	c.1014		3																																																																																			WDR6	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.622	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49049891	+1	no_errors	ENST00000395474	ensembl	human	known	70_37	silent	SNP	0.993	A
WDR6	11180	genome.wustl.edu	37	3	49049972	49049972	+	Silent	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:49049972G>A	ENST00000608424.1	+	2	1044	c.1005G>A	c.(1003-1005)ttG>ttA	p.L335L	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000395474.3_Silent_p.L365L|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Silent_p.L284L			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	335					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		ACCGGGGATTGGGGGTCTCGG	0.612																																																	0													59.0	64.0	62.0					3																	49049972		2203	4300	6503	SO:0001819	synonymous_variant	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1005G>A	3.37:g.49049972G>A			B4DHK2|Q3MIT1|Q9UF63	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L365	ENST00000608424.1	37	c.1095		3																																																																																			WDR6	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.612	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49049972	+1	no_errors	ENST00000395474	ensembl	human	known	70_37	silent	SNP	0.000	A
WDR6	11180	genome.wustl.edu	37	3	49050409	49050409	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:49050409G>A	ENST00000608424.1	+	2	1481	c.1442G>A	c.(1441-1443)cGt>cAt	p.R481H	WDR6_ENST00000489684.1_Intron|WDR6_ENST00000395474.3_Missense_Mutation_p.R511H|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.R430H			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	481					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GTCAAGGAACGTTGTCGGTAC	0.607																																																	0													69.0	62.0	64.0					3																	49050409		2203	4300	6503	SO:0001583	missense	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.1442G>A	3.37:g.49050409G>A	ENSP00000477389:p.Arg481His		B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R511H	ENST00000608424.1	37	c.1532		3	.	.	.	.	.	.	.	.	.	.	G	17.99	3.524061	0.64747	.	.	ENSG00000178252	ENST00000395474;ENST00000448293	T;T	0.66815	-0.23;0.19	5.49	4.61	0.57282	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);	0.399955	0.25677	N	0.029039	T	0.64897	0.2640	L	0.36672	1.1	0.09310	N	0.999996	D;P	0.76494	0.999;0.83	P;B	0.59221	0.854;0.107	T	0.57277	-0.7839	10	0.40728	T	0.16	-13.1173	5.1541	0.15025	0.2123:0.0:0.6225:0.1652	.	481;430	Q9NNW5;E9PDU5	WDR6_HUMAN;.	H	511;430	ENSP00000378857:R511H;ENSP00000413432:R430H	ENSP00000378857:R511H	R	+	2	0	WDR6	49025413	0.962000	0.33011	0.990000	0.47175	0.961000	0.63080	2.711000	0.47177	2.594000	0.87642	0.561000	0.74099	CGT	WDR6	-	superfamily_Quino_amine_DH_bsu,smart_WD40_repeat		0.607	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49050409	+1	no_errors	ENST00000395474	ensembl	human	known	70_37	missense	SNP	0.215	A
WDR6	11180	genome.wustl.edu	37	3	49052061	49052061	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr3:49052061G>A	ENST00000608424.1	+	5	2851	c.2812G>A	c.(2812-2814)Gat>Aat	p.D938N	WDR6_ENST00000395474.3_Missense_Mutation_p.D968N|WDR6_ENST00000415265.2_Missense_Mutation_p.D386N|DALRD3_ENST00000496568.1_5'Flank|WDR6_ENST00000448293.1_Missense_Mutation_p.D887N			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	938					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CGCAGCTACTGATGGCAGCCT	0.577											OREG0015565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													110.0	102.0	104.0					3																	49052061		2203	4300	6503	SO:0001583	missense	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.2812G>A	3.37:g.49052061G>A	ENSP00000477389:p.Asp938Asn	959	B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D968N	ENST00000608424.1	37	c.2902		3	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964607	0.92791	.	.	ENSG00000178252	ENST00000395474;ENST00000415265;ENST00000448293	T;T;T	0.78816	2.12;-1.21;-1.21	4.47	4.47	0.54385	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86838	0.6029	M	0.72894	2.215	0.58432	D	0.999992	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.91635	0.961;0.998;0.999	D	0.86306	0.1683	10	0.39692	T	0.17	-19.7392	17.0064	0.86394	0.0:0.0:1.0:0.0	.	386;938;887	E9PBK6;Q9NNW5;E9PDU5	.;WDR6_HUMAN;.	N	968;386;887	ENSP00000378857:D968N;ENSP00000412195:D386N;ENSP00000413432:D887N	ENSP00000378857:D968N	D	+	1	0	WDR6	49027065	1.000000	0.71417	0.430000	0.26722	0.905000	0.53344	8.498000	0.90492	2.435000	0.82474	0.561000	0.74099	GAT	WDR6	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.577	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49052061	+1	no_errors	ENST00000395474	ensembl	human	known	70_37	missense	SNP	0.999	A
WNK3	65267	genome.wustl.edu	37	X	54263681	54263681	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chrX:54263681C>T	ENST00000375159.2	-	19	4317	c.4318G>A	c.(4318-4320)Gaa>Aaa	p.E1440K	WNK3_ENST00000354646.2_Missense_Mutation_p.E1440K|WNK3_ENST00000375169.3_Missense_Mutation_p.E1393K			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1440					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GAAGTTTCTTCAAATTCCTTT	0.423																																																	0													74.0	61.0	65.0					X																	54263681		2203	4300	6503	SO:0001583	missense	65267			AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.4318G>A	X.37:g.54263681C>T	ENSP00000364301:p.Glu1440Lys		B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E1440K	ENST00000375159.2	37	c.4318	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418452	0.42918	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.72505	-0.66;-0.63;-0.63	4.32	4.32	0.51571	.	0.402167	0.21012	N	0.081662	T	0.54870	0.1885	N	0.24115	0.695	0.30139	N	0.804082	P;P	0.39480	0.675;0.546	B;B	0.37888	0.26;0.133	T	0.52419	-0.8578	10	0.10377	T	0.69	-7.6441	15.4324	0.75112	0.0:1.0:0.0:0.0	.	1393;1440	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	K	1393;1440;1440	ENSP00000364312:E1393K;ENSP00000346667:E1440K;ENSP00000364301:E1440K	ENSP00000346667:E1440K	E	-	1	0	WNK3	54280406	1.000000	0.71417	0.943000	0.38184	0.934000	0.57294	4.195000	0.58400	2.084000	0.62774	0.600000	0.82982	GAA	WNK3	-	NULL		0.423	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	HGNC	protein_coding	OTTHUMT00000056799.2	C	NM_020922		54263681	-1	no_errors	ENST00000354646	ensembl	human	known	70_37	missense	SNP	1.000	T
ZC3H7B	23264	genome.wustl.edu	37	22	41716682	41716682	+	Silent	SNP	G	G	A			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr22:41716682G>A	ENST00000352645.4	+	2	275	c.18G>A	c.(16-18)cgG>cgA	p.R6R	ZC3H7B_ENST00000351589.4_Silent_p.R6R	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	6					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GGCAGAAACGGAAGGCGGACA	0.602																																																	0													156.0	121.0	133.0					22																	41716682		2203	4300	6503	SO:0001819	synonymous_variant	23264				CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.18G>A	22.37:g.41716682G>A			A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	pfam_Znf_CCCH,pfam_TPR-1,smart_TPR_repeat,smart_Znf_CCCH,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R6	ENST00000352645.4	37	c.18	CCDS14013.1	22																																																																																			ZC3H7B	-	NULL		0.602	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H7B	HGNC	protein_coding	OTTHUMT00000320696.1	G	NM_017590		41716682	+1	no_errors	ENST00000351589	ensembl	human	known	70_37	silent	SNP	1.000	A
ZNF66	7617	genome.wustl.edu	37	19	20988925	20988925	+	Silent	SNP	C	C	T			TCGA-C5-A7CJ-01A-11D-A32I-09	TCGA-C5-A7CJ-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	d1169c82-e50f-40d1-914f-b4d8c93a7a3a	366c8a6f-319f-4909-92f1-a66f6f7114b1	g.chr19:20988925C>T	ENST00000344519.8	+	4	542	c.519C>T	c.(517-519)tgC>tgT	p.C173C	ZNF66_ENST00000425625.1_Silent_p.C219C|AC010329.1_ENST00000582722.1_RNA			Q6ZN08	ZNF66_HUMAN	zinc finger protein 66	173					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AAAACCCTTGCAAATTTACAG	0.333																																																	0																																										SO:0001819	synonymous_variant	7617			M88375		19p12	2013-03-06	2013-03-06	2013-03-06	ENSG00000160229	ENSG00000160229			13135	other	unknown			"""zinc finger protein 66, pseudogene"""	ZNF66P		1505991	Standard	NG_023377		Approved	FLJ16537	uc002npe.3	Q6ZN08	OTTHUMG00000167735	ENST00000344519.8:c.519C>T	19.37:g.20988925C>T			I3L4P5|Q15939	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C219	ENST00000344519.8	37	c.657		19																																																																																			ZNF66P	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.333	ZNF66-001	KNOWN	basic|appris_principal	protein_coding	ZNF66P	HGNC	protein_coding	OTTHUMT00000395955.2	C	NG_023377		20988925	+1	no_errors	ENST00000425625	ensembl	human	known	70_37	silent	SNP	0.001	T
