#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
ACSM2B	348158	genome.wustl.edu	37	16	20559410	20559410	+	Nonsense_Mutation	SNP	G	G	A	rs201804117		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr16:20559410G>A	ENST00000329697.6	-	8	1240	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*	ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R358*|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565322.1_Nonsense_Mutation_p.R279*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R358*	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	358					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TAGAATTCTCGGATGTCCAGT	0.507													g|||	1	0.000199681	0.0	0.0	5008	,	,		17774	0.0		0.001	False		,,,				2504	0.0																0								G	stop/ARG,stop/ARG	3,4399	6.2+/-15.9	0,3,2198	152.0	156.0	155.0		1072,1072	2.1	1.0	16		155	0,8600		0,0,4300	no	stop-gained,stop-gained	ACSM2B	NM_001105069.1,NM_182617.3	,	0,3,6498	AA,AG,GG		0.0,0.0682,0.0231	,	358/578,358/578	20559410	3,12999	2201	4300	6501	SO:0001587	stop_gained	348158			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1072C>T	16.37:g.20559410G>A	ENSP00000327453:p.Arg358*		Q86YT1	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R358*	ENST00000329697.6	37	c.1072	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	G	40	8.031464	0.98619	6.82E-4	0.0	ENSG00000066813	ENST00000329697	.	.	.	3.23	2.14	0.27477	.	0.479232	0.15600	N	0.253977	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-4.4532	3.944	0.09339	0.2132:0.0:0.5871:0.1997	.	.	.	.	X	358	.	ENSP00000327453:R358X	R	-	1	2	ACSM2B	20466911	0.001000	0.12720	0.999000	0.59377	0.926000	0.56050	-0.183000	0.09712	1.809000	0.52856	0.609000	0.83330	CGA	ACSM2B	-	pfam_AMP-dep_Synth/Lig		0.507	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	G	NM_182617		20559410	-1	no_errors	ENST00000329697	ensembl	human	known	70_37	nonsense	SNP	0.963	A
AKT1S1	84335	genome.wustl.edu	37	19	50376308	50376308	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr19:50376308G>T	ENST00000391833.1	-	1	2234	c.245C>A	c.(244-246)cCa>cAa	p.P82Q	AKT1S1_ENST00000391832.3_Missense_Mutation_p.P82Q|AKT1S1_ENST00000344175.5_Missense_Mutation_p.P82Q|AKT1S1_ENST00000391835.1_Missense_Mutation_p.P102Q|AKT1S1_ENST00000391834.2_Missense_Mutation_p.P82Q|AKT1S1_ENST00000391831.1_Missense_Mutation_p.P82Q	NM_001278160.1	NP_001265089.1			AKT1 substrate 1 (proline-rich)											kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		CTGTGGTGCTGGTGGGGGCGC	0.697																																																	0													28.0	21.0	23.0					19																	50376308		2165	4222	6387	SO:0001583	missense	84335			BC022241	CCDS12784.1, CCDS59410.1	19q13.33	2008-02-05			ENSG00000204673	ENSG00000204673			28426	protein-coding gene	gene with protein product	"""proline-rich Akt substrate, 40 kDa"""	610221				12524439	Standard	NM_032375		Approved	PRAS40, MGC2865, Lobe	uc031rmg.1	Q96B36	OTTHUMG00000150246	ENST00000391833.1:c.245C>A	19.37:g.50376308G>T	ENSP00000375709:p.Pro82Gln			Missense_Mutation	SNP	NULL	p.P82Q	ENST00000391833.1	37	c.245	CCDS12784.1	19	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940334	0.52972	.	.	ENSG00000204673	ENST00000391833;ENST00000344175;ENST00000391832;ENST00000391834;ENST00000391835;ENST00000391831;ENST00000391830	T;T;T;T;T;T;T	0.62639	0.21;0.21;0.21;0.21;0.2;0.21;0.01	4.26	4.26	0.50523	.	0.392200	0.25900	N	0.027568	T	0.65729	0.2719	L	0.38175	1.15	0.39065	D	0.960597	D	0.69078	0.997	P	0.60949	0.881	T	0.63875	-0.6538	10	0.25751	T	0.34	-10.0137	14.195	0.65664	0.0:0.0:1.0:0.0	.	82	Q96B36	AKTS1_HUMAN	Q	82;82;82;82;102;82;82	ENSP00000375709:P82Q;ENSP00000341698:P82Q;ENSP00000375708:P82Q;ENSP00000375710:P82Q;ENSP00000375711:P102Q;ENSP00000375707:P82Q;ENSP00000375706:P82Q	ENSP00000341698:P82Q	P	-	2	0	AKT1S1	55068120	0.991000	0.36638	0.745000	0.31077	0.371000	0.29859	3.245000	0.51407	2.217000	0.71921	0.561000	0.74099	CCA	AKT1S1	-	NULL		0.697	AKT1S1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AKT1S1	HGNC	protein_coding	OTTHUMT00000317073.1	G	NM_032375		50376308	-1	no_errors	ENST00000344175	ensembl	human	known	70_37	missense	SNP	0.982	T
ALMS1P	200420	genome.wustl.edu	37	2	73900988	73900988	+	RNA	SNP	C	C	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr2:73900988C>T	ENST00000450720.1	+	0	786					NR_003683.2		Q96L16	ALM1L_HUMAN	Alstrom syndrome 1 pseudogene						endosomal transport (GO:0016197)|regulation of stress fiber assembly (GO:0051492)												CATTGGGGAGCGGATAAAGCG	0.458																																																	0													92.0	77.0	81.0					2																	73900988		692	1591	2283			200420			BC014492		2p13.2	2008-01-31	2008-01-31	2008-01-31	ENSG00000163016	ENSG00000163016			29586	pseudogene	pseudogene			"""Alstrom syndrome 1-like"""	ALMS1L		12477932	Standard	NR_003683		Approved		uc010yrl.2	Q96L16	OTTHUMG00000152773		2.37:g.73900988C>T				RNA	SNP	-	NULL	ENST00000450720.1	37	NULL		2																																																																																			ALMS1P	-	-		0.458	ALMS1P-002	KNOWN	basic	processed_transcript	ALMS1P	HGNC	pseudogene	OTTHUMT00000339824.1	C	NR_003683		73900988	+1	no_errors	ENST00000450720	ensembl	human	known	70_37	rna	SNP	1.000	T
ARID1A	8289	genome.wustl.edu	37	1	27057661	27057661	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr1:27057661C>T	ENST00000324856.7	+	3	1740	c.1369C>T	c.(1369-1371)Caa>Taa	p.Q457*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q457*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q74*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	457					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TTATGGACAACAAGGCCCCAG	0.498			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													183.0	189.0	187.0					1																	27057661		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.1369C>T	1.37:g.27057661C>T	ENSP00000320485:p.Gln457*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q457*	ENST00000324856.7	37	c.1369	CCDS285.1	1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.823299	0.90873	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000524572;ENST00000374152	.	.	.	5.03	5.03	0.67393	.	0.055437	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-0.685	18.5443	0.91040	0.0:1.0:0.0:0.0	.	.	.	.	X	457;457;74;74	.	ENSP00000320485:Q457X	Q	+	1	0	ARID1A	26930248	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.994000	0.76251	2.615000	0.88500	0.561000	0.74099	CAA	ARID1A	-	NULL		0.498	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27057661	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ARMC6	93436	genome.wustl.edu	37	19	19166718	19166718	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr19:19166718C>T	ENST00000535612.1	+	8	1706	c.1274C>T	c.(1273-1275)cCg>cTg	p.P425L	ARMC6_ENST00000392335.2_Missense_Mutation_p.P400L|ARMC6_ENST00000269932.6_Missense_Mutation_p.P400L|ARMC6_ENST00000392336.3_Missense_Mutation_p.P425L|ARMC6_ENST00000546344.1_Missense_Mutation_p.P332L	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	425					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			AAGGCACACCCGCAGAAGGCC	0.692																																																	0																																										SO:0001583	missense	93436			BX648486	CCDS32965.1, CCDS56089.1	19p13	2013-02-14				ENSG00000105676		"""Armadillo repeat containing"""	25049	protein-coding gene	gene with protein product						12477932	Standard	NM_033415		Approved	MGC19595	uc002nlc.3	Q6NXE6		ENST00000535612.1:c.1274C>T	19.37:g.19166718C>T	ENSP00000444156:p.Pro425Leu		B4DI98|O94999|Q9BTH5	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.P425L	ENST00000535612.1	37	c.1274	CCDS56089.1	19	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346191	0.41599	.	.	ENSG00000105676	ENST00000392335;ENST00000535612;ENST00000269932;ENST00000546344;ENST00000379532;ENST00000392336	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	5.24	4.2	0.49525	Armadillo-like helical (1);Armadillo-type fold (1);	0.280434	0.40302	N	0.001126	T	0.51736	0.1692	M	0.77103	2.36	0.80722	D	1	D	0.60575	0.988	B	0.44044	0.439	T	0.59979	-0.7352	10	0.54805	T	0.06	-19.7592	13.0617	0.59010	0.0:0.9219:0.0:0.0781	.	425	Q6NXE6	ARMC6_HUMAN	L	400;425;400;332;336;425	ENSP00000376147:P400L;ENSP00000444156:P425L;ENSP00000269932:P400L;ENSP00000444341:P332L;ENSP00000376148:P425L	ENSP00000269932:P400L	P	+	2	0	ARMC6	19027718	0.998000	0.40836	0.766000	0.31476	0.005000	0.04900	5.564000	0.67359	1.214000	0.43395	-0.157000	0.13467	CCG	ARMC6	-	superfamily_ARM-type_fold,smart_Armadillo		0.692	ARMC6-001	KNOWN	basic|CCDS	protein_coding	ARMC6	HGNC	protein_coding	OTTHUMT00000403226.1	C	NM_033415		19166718	+1	no_errors	ENST00000392336	ensembl	human	known	70_37	missense	SNP	0.993	T
BCORL1	63035	genome.wustl.edu	37	X	129148350	129148350	+	Silent	SNP	C	C	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chrX:129148350C>T	ENST00000218147.7	+	4	1799	c.1602C>T	c.(1600-1602)agC>agT	p.S534S	BCORL1_ENST00000540052.1_Silent_p.S534S|BCORL1_ENST00000303743.5_Silent_p.S534S|BCORL1_ENST00000359304.2_Silent_p.S534S			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	534	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CATCCGGTAGCACCACCACCC	0.592																																																	0													107.0	121.0	116.0					X																	129148350		2203	4300	6503	SO:0001819	synonymous_variant	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.1602C>T	X.37:g.129148350C>T			B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S534	ENST00000218147.7	37	c.1602	CCDS14616.1	X																																																																																			BCORL1	-	NULL		0.592	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	C	NM_021946		129148350	+1	no_errors	ENST00000303743	ensembl	human	known	70_37	silent	SNP	0.000	T
COL19A1	1310	genome.wustl.edu	37	6	70873240	70873240	+	Missense_Mutation	SNP	A	A	C			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr6:70873240A>C	ENST00000322773.4	+	36	2454	c.2352A>C	c.(2350-2352)ttA>ttC	p.L784F	COL19A1_ENST00000393344.1_Missense_Mutation_p.L406F	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	784	Collagen-like 8.|Triple-helical region 4 (COL4).				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TACAGGGCTTAATGGGAAGAA	0.418																																																	0													85.0	74.0	78.0					6																	70873240		2203	4300	6503	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.2352A>C	6.37:g.70873240A>C	ENSP00000316030:p.Leu784Phe		Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.L784F	ENST00000322773.4	37	c.2352	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	A	11.37	1.617693	0.28801	.	.	ENSG00000082293	ENST00000322773;ENST00000393344	D;D	0.93659	-3.26;-3.26	6.06	-4.48	0.03515	.	0.669254	0.14384	N	0.322960	T	0.78935	0.4362	N	0.21194	0.64	0.09310	N	1	P	0.49696	0.927	P	0.52109	0.69	T	0.78204	-0.2295	10	0.12766	T	0.61	.	6.0673	0.19870	0.38:0.0957:0.4378:0.0865	.	784	Q14993	COJA1_HUMAN	F	784;406	ENSP00000316030:L784F;ENSP00000377013:L406F	ENSP00000316030:L784F	L	+	3	2	COL19A1	70929961	0.003000	0.15002	0.022000	0.16811	0.452000	0.32318	-0.018000	0.12568	-0.498000	0.06632	0.533000	0.62120	TTA	COL19A1	-	pfam_Collagen		0.418	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	A			70873240	+1	no_errors	ENST00000322773	ensembl	human	known	70_37	missense	SNP	0.000	C
CYP11A1	1583	genome.wustl.edu	37	15	74631051	74631051	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr15:74631051G>A	ENST00000268053.6	-	8	1449	c.1295C>T	c.(1294-1296)cCg>cTg	p.P432L	CYP11A1_ENST00000358632.4_Missense_Mutation_p.P274L|CYP11A1_ENST00000419019.2_Missense_Mutation_p.P274L	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	432					biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	AAAATTTTCCGGGTCGAAGAA	0.577																																					Esophageal Squamous(87;818 1337 4093 9268 37314)												0													117.0	113.0	114.0					15																	74631051		2197	4297	6494	SO:0001583	missense	1583			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716	ENST00000268053.6:c.1295C>T	15.37:g.74631051G>A	ENSP00000268053:p.Pro432Leu		A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.P432L	ENST00000268053.6	37	c.1295	CCDS32291.1	15	.	.	.	.	.	.	.	.	.	.	G	17.42	3.386218	0.61956	.	.	ENSG00000140459	ENST00000268053;ENST00000358632;ENST00000419019;ENST00000452422	D;D;D	0.87412	-2.25;-2.25;-2.25	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.94823	0.8328	M	0.89968	3.075	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95762	0.8801	10	0.87932	D	0	-10.0663	18.2052	0.89852	0.0:0.0:1.0:0.0	.	402;432	B4DTE5;P05108	.;CP11A_HUMAN	L	432;274;274;197	ENSP00000268053:P432L;ENSP00000351455:P274L;ENSP00000405488:P274L	ENSP00000268053:P432L	P	-	2	0	CYP11A1	72418104	1.000000	0.71417	0.092000	0.20876	0.072000	0.16883	9.145000	0.94634	2.393000	0.81446	0.549000	0.68633	CCG	CYP11A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B		0.577	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11A1	HGNC	protein_coding	OTTHUMT00000319737.1	G			74631051	-1	no_errors	ENST00000268053	ensembl	human	known	70_37	missense	SNP	0.997	A
CYP2F1	1572	genome.wustl.edu	37	19	41630665	41630665	+	Missense_Mutation	SNP	C	C	T	rs376080668		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr19:41630665C>T	ENST00000331105.2	+	8	1078	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	336					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						GGGACGCGCGCGGCTGCCGGC	0.677																																																	0								C	TRP/ARG	1,4383		0,1,2191	16.0	17.0	17.0		1006	0.6	1.0	19		17	0,8564		0,0,4282	no	missense	CYP2F1	NM_000774.3	101	0,1,6473	TT,TC,CC		0.0,0.0228,0.0077	possibly-damaging	336/492	41630665	1,12947	2192	4282	6474	SO:0001583	missense	1572			J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1006C>T	19.37:g.41630665C>T	ENSP00000333534:p.Arg336Trp		A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R336W	ENST00000331105.2	37	c.1006	CCDS12572.1	19	.	.	.	.	.	.	.	.	.	.	c	11.23	1.577960	0.28180	2.28E-4	0.0	ENSG00000197446	ENST00000331105	T	0.71698	-0.59	3.13	0.644	0.17776	.	0.141587	0.45126	U	0.000381	T	0.73361	0.3577	H	0.98111	4.15	0.44454	D	0.997382	P	0.37207	0.587	B	0.26864	0.074	T	0.73997	-0.3806	10	0.87932	D	0	.	5.4873	0.16757	0.1931:0.6878:0.0:0.1191	.	336	P24903	CP2F1_HUMAN	W	336	ENSP00000333534:R336W	ENSP00000333534:R336W	R	+	1	2	CYP2F1	46322505	0.003000	0.15002	0.964000	0.40570	0.289000	0.27227	0.073000	0.14640	0.541000	0.28827	0.089000	0.15464	CGG	CYP2F1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.677	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2F1	HGNC	protein_coding	OTTHUMT00000394527.2	C			41630665	+1	no_errors	ENST00000331105	ensembl	human	known	70_37	missense	SNP	0.951	T
DHX9	1660	genome.wustl.edu	37	1	182845266	182845266	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr1:182845266C>A	ENST00000367549.3	+	17	2007	c.1897C>A	c.(1897-1899)Cct>Act	p.P633T		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	633					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|circadian rhythm (GO:0007623)|CRD-mediated mRNA stabilization (GO:0070934)|DNA duplex unwinding (GO:0032508)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|positive regulation of type I interferon production (GO:0032481)|RNA splicing (GO:0008380)	centrosome (GO:0005813)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|RNA polymerase II transcription factor binding (GO:0001085)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						AAAGGAAACTCCTTTTGAACT	0.398																																					Colon(69;210 1162 3697 13559 39565)												0													169.0	152.0	157.0					1																	182845266		1878	4100	5978	SO:0001583	missense	1660			L13848	CCDS41444.1	1q25	2013-05-13	2013-05-13	2003-06-20	ENSG00000135829	ENSG00000135829		"""DEAH-boxes"""	2750	protein-coding gene	gene with protein product	"""NDH II"", ""RNA helicase A"""	603115	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 9 (RNA helicase A, nuclear DNA helicase II; leukophysin)"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 9"""	LKP, DDX9		8344961, 9111062	Standard	NM_001357		Approved	RHA	uc001gpr.3	Q08211	OTTHUMG00000035337	ENST00000367549.3:c.1897C>A	1.37:g.182845266C>A	ENSP00000356520:p.Pro633Thr		B2RNV4|Q05CI5|Q12803|Q32Q22|Q5VY62|Q6PD69|Q99556	Missense_Mutation	SNP	pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd	p.P633T	ENST00000367549.3	37	c.1897	CCDS41444.1	1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786987	0.31593	.	.	ENSG00000135829	ENST00000367549	T	0.02525	4.26	5.64	4.73	0.59995	.	0.117513	0.64402	D	0.000015	T	0.03915	0.0110	L	0.47190	1.495	0.47994	D	0.999568	P	0.37548	0.599	B	0.35607	0.206	T	0.50215	-0.8854	10	0.49607	T	0.09	.	12.0087	0.53274	0.0:0.8559:0.0:0.1441	.	633	Q08211	DHX9_HUMAN	T	633	ENSP00000356520:P633T	ENSP00000356520:P633T	P	+	1	0	DHX9	181111889	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.702000	0.47102	1.517000	0.48917	0.558000	0.71614	CCT	DHX9	-	NULL		0.398	DHX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX9	HGNC	protein_coding	OTTHUMT00000085522.2	C	NM_030588		182845266	+1	no_errors	ENST00000367549	ensembl	human	known	70_37	missense	SNP	1.000	A
DOCK3	1795	genome.wustl.edu	37	3	51265439	51265440	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr3:51265439_51265440delTT	ENST00000266037.9	+	17	1590_1591	c.1567_1568delTT	c.(1567-1569)tttfs	p.F523fs		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	523	DHR-1.				small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AAAGAAACTCTTTGGCTTTGCA	0.436																																																	0																																										SO:0001589	frameshift_variant	1795			AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.1567_1568delTT	3.37:g.51265439_51265440delTT	ENSP00000266037:p.Phe523fs		O15017	Frame_Shift_Del	DEL	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.F523fs	ENST00000266037.9	37	c.1567_1568	CCDS46835.1	3																																																																																			DOCK3	-	NULL		0.436	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	TT	NM_004947		51265440	+1	no_errors	ENST00000266037	ensembl	human	known	70_37	frame_shift_del	DEL	1.000:1.000	-
DNAH12	201625	genome.wustl.edu	37	3	57456170	57456170	+	Splice_Site	SNP	C	C	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr3:57456170C>T	ENST00000351747.2	-	16	2285	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q	snoU13_ENST00000459308.1_RNA|DNAH12_ENST00000389536.4_Splice_Site_p.R702Q	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	702	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CAGCAATTACCGTTTTTCTGA	0.259																																																	0													68.0	53.0	57.0					3																	57456170		692	1588	2280	SO:0001630	splice_region_variant	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.2105+1G>A	3.37:g.57456170C>T			A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R702Q	ENST00000351747.2	37	c.2105		3	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945342	0.34377	.	.	ENSG00000174844	ENST00000351747;ENST00000495027;ENST00000389536	T;T;T	0.60299	0.2;0.2;3.66	4.36	4.36	0.52297	Dynein heavy chain, domain-2 (1);	0.000000	0.40469	U	0.001083	T	0.60508	0.2274	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	P	0.58077	0.832	T	0.59467	-0.7449	9	.	.	.	.	17.0901	0.86619	0.0:1.0:0.0:0.0	.	702	Q6ZR08	DYH12_HUMAN	Q	702	ENSP00000295937:R702Q;ENSP00000418137:R702Q;ENSP00000374187:R702Q	.	R	-	2	0	DNAH12	57431210	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	4.721000	0.61951	2.239000	0.73571	0.467000	0.42956	CGG	DNAH12	-	pfam_Dynein_heavy_dom-2		0.259	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		C	NM_178504	Missense_Mutation	57456170	-1	no_errors	ENST00000351747	ensembl	human	known	70_37	missense	SNP	1.000	T
RREB1	6239	genome.wustl.edu	37	6	7187819	7187819	+	Intron	SNP	T	T	G			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr6:7187819T>G	ENST00000349384.6	+	5	575				Y_RNA_ENST00000364613.1_RNA|RREB1_ENST00000334984.6_Intron|RREB1_ENST00000379938.2_Intron|RREB1_ENST00000379933.3_Intron|RP11-405O10.2_ENST00000451355.2_RNA	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1						multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ttttattttattttagtcaag	0.368																																																	0																																										SO:0001627	intron_variant	0			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.261+63T>G	6.37:g.7187819T>G			A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	RNA	SNP	-	NULL	ENST00000349384.6	37	NULL	CCDS34336.1	6																																																																																			Y_RNA	-	-		0.368	RREB1-002	KNOWN	basic|CCDS	protein_coding	ENSG00000201483	RFAM	protein_coding	OTTHUMT00000352985.1	T			7187819	-1	no_errors	ENST00000364613	ensembl	human	novel	70_37	rna	SNP	0.005	G
MT-ND2	4536	genome.wustl.edu	37	M	1572	1572	+	5'Flank	SNP	A	A	G			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chrM:1572A>G	ENST00000361453.3	+	0	0				MT-ND1_ENST00000361390.2_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						TCGTAACATGGTAAGTGTACT	0.443																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1572A>G	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			J01415.23	-	-		0.443	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000211459	Clone_based_ensembl_gene	protein_coding		A	YP_003024027		1572	+1	no_errors	ENST00000389680	ensembl	human	known	70_37	rna	SNP	NULL	G
F8	2157	genome.wustl.edu	37	X	154132217	154132218	+	Frame_Shift_Ins	INS	-	-	T	rs387906460		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chrX:154132217_154132218insT	ENST00000360256.4	-	18	6161_6162	c.5961_5962insA	c.(5959-5964)aaagagfs	p.E1988fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1988	F5/8 type A 3.|Plastocyanin-like 6.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTATACTCCTCTTTTTTTCGTA	0.386																																																	0			GRCh37	CD062157|CD961984|CI983097	F8	D|I																																				SO:0001589	frameshift_variant	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.5962dupA	X.37:g.154132224_154132224dupT	ENSP00000353393:p.Glu1988fs		Q14286|Q5HY69	Frame_Shift_Ins	INS	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E1987fs	ENST00000360256.4	37	c.5962_5961	CCDS35457.1	X																																																																																			F8	-	pfam_Cu-oxidase_2,superfamily_Cupredoxin		0.386	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	-			154132218	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	frame_shift_ins	INS	0.019:0.005	T
FBXW7	55294	genome.wustl.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr4:153247366C>T	ENST00000281708.4	-	10	2665	c.1436G>A	c.(1435-1437)cGa>cAa	p.R479Q	FBXW7_ENST00000296555.5_Missense_Mutation_p.R361Q|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479Q|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399Q|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303Q	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	47	Substitution - Missense(46)|Unknown(1)	haematopoietic_and_lymphoid_tissue(16)|large_intestine(9)|endometrium(7)|urinary_tract(5)|upper_aerodigestive_tract(4)|lung(4)|stomach(1)|kidney(1)											85.0	80.0	82.0					4																	153247366		2203	4299	6502	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1436G>A	4.37:g.153247366C>T	ENSP00000281708:p.Arg479Gln		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R479Q	ENST00000281708.4	37	c.1436	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.283775	0.95489	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.50222	0.1603	N	0.12527	0.23	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.56529	-0.7964	10	0.56958	D	0.05	-12.7081	20.2406	0.98372	0.0:1.0:0.0:0.0	.	303;479;361;399	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	Q	479;361;399;303	ENSP00000281708:R479Q;ENSP00000296555:R361Q;ENSP00000263981:R399Q;ENSP00000377528:R303Q	ENSP00000263981:R399Q	R	-	2	0	FBXW7	153466816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.715000	0.84713	2.857000	0.98124	0.650000	0.86243	CGA	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	C			153247366	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	T
FLNA	2316	genome.wustl.edu	37	X	153581709	153581709	+	Missense_Mutation	SNP	G	G	A	rs371616686		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chrX:153581709G>A	ENST00000369850.3	-	37	6213	c.5977C>T	c.(5977-5979)Cgg>Tgg	p.R1993W	FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000369856.3_Missense_Mutation_p.R126W|FLNA_ENST00000360319.4_Missense_Mutation_p.R1985W|FLNA_ENST00000344736.4_Missense_Mutation_p.R1953W|FLNA_ENST00000422373.1_Missense_Mutation_p.R1985W	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1993					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTCCTCCCGGCCCGAGGGC	0.632																																																	0								G	TRP/ARG,TRP/ARG	0,3556		0,0,1493,570	55.0	62.0	60.0		5977,5953	1.9	0.1	X		60	1,6542		0,1,2370,1801	no	missense,missense	FLNA	NM_001110556.1,NM_001456.3	101,101	0,1,3863,2371	AA,AG,GG,G		0.0153,0.0,0.0099	probably-damaging,probably-damaging	1993/2648,1985/2640	153581709	1,10098	2063	4172	6235	SO:0001583	missense	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.5977C>T	X.37:g.153581709G>A	ENSP00000358866:p.Arg1993Trp		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R1993W	ENST00000369850.3	37	c.5977	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	G	5.780	0.328258	0.10956	0.0	1.53E-4	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;D;D	0.86627	-2.15;-2.15;-2.15;-1.99;-2.15	5.69	1.92	0.25849	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.073236	0.52532	D	0.000064	D	0.89928	0.6857	M	0.64404	1.975	0.50813	D	0.999898	B;D;D;D	0.76494	0.061;0.999;0.985;0.985	B;D;P;P	0.75484	0.045;0.986;0.651;0.651	D	0.86473	0.1786	10	0.62326	D	0.03	.	6.1229	0.20164	0.137:0.0:0.4863:0.3767	.	126;1985;1993;1993	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	W	1985;1985;1993;126;1953	ENSP00000353467:R1985W;ENSP00000416926:R1985W;ENSP00000358866:R1993W;ENSP00000358872:R126W;ENSP00000358863:R1953W	ENSP00000358863:R1953W	R	-	1	2	FLNA	153234903	0.003000	0.15002	0.108000	0.21378	0.043000	0.13939	1.104000	0.31074	-0.043000	0.13513	-0.494000	0.04653	CGG	FLNA	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	G			153581709	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	missense	SNP	0.971	A
FSIP2	401024	genome.wustl.edu	37	2	186667594	186667594	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr2:186667594G>A	ENST00000424728.1	+	17	13561	c.13561G>A	c.(13561-13563)Gaa>Aaa	p.E4521K	AC008174.3_ENST00000436557.1_RNA|FSIP2_ENST00000343098.5_Missense_Mutation_p.E4610K|AC008174.3_ENST00000429929.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	4521										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TTCCCAACATGAAATTCGATT	0.328																																																	0																																										SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.13561G>A	2.37:g.186667594G>A	ENSP00000401306:p.Glu4521Lys		Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.E4610K	ENST00000424728.1	37	c.13828		2	.	.	.	.	.	.	.	.	.	.	G	9.750	1.167183	0.21621	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.56103	0.48;0.49	5.27	3.5	0.40072	.	.	.	.	.	T	0.42131	0.1189	L	0.27053	0.805	0.27309	N	0.957372	.	.	.	.	.	.	T	0.30966	-0.9960	7	0.36615	T	0.2	.	8.4797	0.33034	0.1598:0.0:0.8402:0.0	.	.	.	.	K	4610;4521	ENSP00000344403:E4610K;ENSP00000401306:E4521K	ENSP00000344403:E4610K	E	+	1	0	FSIP2	186375839	1.000000	0.71417	1.000000	0.80357	0.351000	0.29236	2.356000	0.44116	0.815000	0.34398	-0.964000	0.02622	GAA	FSIP2	-	NULL		0.328	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	G	NM_173651		186667594	+1	no_errors	ENST00000343098	ensembl	human	known	70_37	missense	SNP	1.000	A
HCN1	348980	genome.wustl.edu	37	5	45262787	45262787	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr5:45262787C>T	ENST00000303230.4	-	8	1966	c.1909G>A	c.(1909-1911)Gct>Act	p.A637T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	637					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.A637S(1)|p.A637T(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TTGATGGGAGCGATTGCCTGC	0.483																																																	2	Substitution - Missense(2)	large_intestine(1)|lung(1)											177.0	158.0	164.0					5																	45262787		2203	4300	6503	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1909G>A	5.37:g.45262787C>T	ENSP00000307342:p.Ala637Thr			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.A637T	ENST00000303230.4	37	c.1909	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	C	2.952	-0.216592	0.06101	.	.	ENSG00000164588	ENST00000303230	T	0.41758	0.99	5.91	3.12	0.35913	.	0.284783	0.29653	N	0.011551	T	0.27866	0.0686	L	0.27053	0.805	0.25682	N	0.985789	B	0.13145	0.007	B	0.06405	0.002	T	0.14924	-1.0455	10	0.32370	T	0.25	.	9.9165	0.41436	0.0:0.6591:0.271:0.0699	.	637	O60741	HCN1_HUMAN	T	637	ENSP00000307342:A637T	ENSP00000307342:A637T	A	-	1	0	HCN1	45298544	0.920000	0.31207	0.793000	0.32043	0.385000	0.30292	1.198000	0.32223	0.376000	0.24707	-0.140000	0.14226	GCT	HCN1	-	NULL		0.483	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	C	NM_021072		45262787	-1	no_errors	ENST00000303230	ensembl	human	known	70_37	missense	SNP	0.993	T
HELZ2	85441	genome.wustl.edu	37	20	62192477	62192477	+	Silent	SNP	A	A	C			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr20:62192477A>C	ENST00000467148.1	-	14	7173	c.7104T>G	c.(7102-7104)ccT>ccG	p.P2368P	HELZ2_ENST00000427522.2_Silent_p.P1799P	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2368	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TGAGGGTTTCAGGTTCCGTGG	0.632																																																	0													71.0	68.0	69.0					20																	62192477		2202	4300	6502	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7104T>G	20.37:g.62192477A>C			Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.P2368	ENST00000467148.1	37	c.7104	CCDS33508.1	20																																																																																			HELZ2	-	NULL		0.632	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	A	NM_001037335		62192477	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	silent	SNP	0.508	C
ING1	3621	genome.wustl.edu	37	13	111371896	111371896	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr13:111371896C>T	ENST00000375774.3	+	2	1348	c.886C>T	c.(886-888)Cag>Tag	p.Q296*	ING1_ENST00000375775.3_Nonsense_Mutation_p.Q84*|ING1_ENST00000333219.7_Nonsense_Mutation_p.Q153*|ING1_ENST00000338450.7_Nonsense_Mutation_p.Q109*	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	296					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CTCACGGCGGCAGCGCAACAA	0.667																																																	0													37.0	33.0	34.0					13																	111371896		2201	4296	6497	SO:0001587	stop_gained	3621				CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.886C>T	13.37:g.111371896C>T	ENSP00000364929:p.Gln296*		O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.Q296*	ENST00000375774.3	37	c.886	CCDS9517.1	13	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130742	0.77549	.	.	ENSG00000153487	ENST00000338450;ENST00000333219;ENST00000375775;ENST00000375774	.	.	.	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	-55.3522	19.0766	0.93165	0.0:1.0:0.0:0.0	.	.	.	.	X	109;153;84;296	.	ENSP00000328436:Q153X	Q	+	1	0	ING1	110169897	1.000000	0.71417	0.982000	0.44146	0.315000	0.28087	7.290000	0.78711	2.506000	0.84524	0.491000	0.48974	CAG	ING1	-	NULL		0.667	ING1-004	KNOWN	basic|CCDS	protein_coding	ING1	HGNC	protein_coding	OTTHUMT00000045770.2	C	NM_005537		111371896	+1	no_errors	ENST00000375774	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KRAS	3845	genome.wustl.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)											91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp		A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.G12D	ENST00000256078.4	37	c.35	CCDS8703.1	12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT	KRAS	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KRAS	HGNC	protein_coding	OTTHUMT00000412232.1	C	NM_033360		25398284	-1	no_errors	ENST00000256078	ensembl	human	known	70_37	missense	SNP	1.000	T
LOC101929232	101929232	genome.wustl.edu	37	15	29078470	29078470	+	IGR	SNP	G	G	C	rs368940387		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr15:29078470G>C								RP11-578F21.12 (25026 upstream) : GOLGA6L7P (11636 downstream)																							CTGAATCTTTGTGTTTGGCTG	0.448																																																	0																																										SO:0001628	intergenic_variant	646278																															15.37:g.29078470G>C				RNA	SNP	-	NULL		37	NULL		15																																																																																			RP11-578F21.12	-	-	0	0.448					LOC646278	Clone_based_vega_gene			G			29078470	+1	no_errors	ENST00000563144	ensembl	human	putative	70_37	rna	SNP	0.917	C
LOC101929232	101929232	genome.wustl.edu	37	15	29078494	29078494	+	IGR	SNP	T	T	C			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr15:29078494T>C								RP11-578F21.12 (25050 upstream) : GOLGA6L7P (11612 downstream)																							AGGCTCGCCTTGACACCGAAT	0.458																																																	0																																										SO:0001628	intergenic_variant	646278																															15.37:g.29078494T>C				RNA	SNP	-	NULL		37	NULL		15																																																																																			RP11-578F21.12	-	-	0	0.458					LOC646278	Clone_based_vega_gene			T			29078494	+1	no_errors	ENST00000563144	ensembl	human	putative	70_37	rna	SNP	0.897	C
LOC101929232	101929232	genome.wustl.edu	37	15	29078498	29078498	+	IGR	SNP	A	A	T	rs563612079		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr15:29078498A>T								RP11-578F21.12 (25054 upstream) : GOLGA6L7P (11608 downstream)																							TCGCCTTGACACCGAATGGTT	0.443																																																	0																																										SO:0001628	intergenic_variant	646278																															15.37:g.29078498A>T				RNA	SNP	-	NULL		37	NULL		15																																																																																			RP11-578F21.12	-	-	0	0.443					LOC646278	Clone_based_vega_gene			A			29078498	+1	no_errors	ENST00000563144	ensembl	human	putative	70_37	rna	SNP	0.899	T
LOC101929232	101929232	genome.wustl.edu	37	15	29078501	29078501	+	IGR	SNP	G	G	A	rs529031377		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr15:29078501G>A								RP11-578F21.12 (25057 upstream) : GOLGA6L7P (11605 downstream)																							CCTTGACACCGAATGGTTGAA	0.448													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17339	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001628	intergenic_variant	646278																															15.37:g.29078501G>A				RNA	SNP	-	NULL		37	NULL		15																																																																																			RP11-578F21.12	-	-	0	0.448					LOC646278	Clone_based_vega_gene			G			29078501	+1	no_errors	ENST00000563144	ensembl	human	putative	70_37	rna	SNP	0.939	A
MIR124-2HG	100130155	genome.wustl.edu	37	8	65291792	65291792	+	lincRNA	SNP	C	C	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr8:65291792C>T	ENST00000521441.1	+	0	655				MIR124-2_ENST00000385081.1_RNA																							ATGCCAAGAGCGGAGCCTACG	0.483																																																	0													54.0	54.0	54.0					8																	65291792		1568	3582	5150			406908																															8.37:g.65291792C>T				RNA	SNP	-	NULL	ENST00000521441.1	37	NULL		8																																																																																			MIR124-2	-	-		0.483	LINC00966-004	KNOWN	basic	lincRNA	MIR124-2	HGNC	lincRNA	OTTHUMT00000378434.1	C			65291792	+1	no_errors	ENST00000385081	ensembl	human	known	70_37	rna	SNP	1.000	T
DTL	51514	genome.wustl.edu	37	1	212251014	212251014	+	Intron	SNP	C	C	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr1:212251014C>T	ENST00000366991.4	+	12	1349				MIR3122_ENST00000577243.1_RNA|DTL_ENST00000475419.1_Intron|DTL_ENST00000542077.1_Intron	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)						cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|regulation of cell cycle (GO:0051726)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|chromosome (GO:0005694)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		TCATCTTGTCCGAAGAGAGCT	0.403																																																	0																																										SO:0001627	intron_variant	100422947			AF195765	CCDS1502.1, CCDS65778.1	1q32	2013-01-10	2012-02-23		ENSG00000143476	ENSG00000143476		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"""	30288	protein-coding gene	gene with protein product	"""RA regulated nuclear matrix associated protein"", ""DDB1 and CUL4 associated factor 2"""	610617	"""denticleless homolog (Drosophila)"""			11278750	Standard	NM_001286229		Approved	RAMP, L2DTL, DCAF2	uc009xdc.3	Q9NZJ0	OTTHUMG00000037133	ENST00000366991.4:c.1036-501C>T	1.37:g.212251014C>T			A8K8H8|D3DT98|Q5VT77|Q96SN0|Q9NW03|Q9NW34|Q9NWM5	RNA	SNP	-	NULL	ENST00000366991.4	37	NULL	CCDS1502.1	1																																																																																			MIR3122	-	-		0.403	DTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3122	HGNC	protein_coding	OTTHUMT00000090182.1	C	NM_016448		212251014	+1	no_errors	ENST00000577243	ensembl	human	known	70_37	rna	SNP	0.006	T
MT-ND5	4540	genome.wustl.edu	37	M	13843	13843	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chrM:13843G>A	ENST00000361567.2	+	1	1507	c.1507G>A	c.(1507-1509)Gac>Aac	p.D503N	MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	503			D -> G. {ECO:0000269|PubMed:1757091}.		cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						TAACAGCCCTAGACCTCAACT	0.453																																																	0																																										SO:0001583	missense	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1507G>A	M.37:g.13843G>A	ENSP00000354813:p.Asp503Asn		Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.D503N	ENST00000361567.2	37	c.1507		MT																																																																																			MT-ND5	-	pfam_NADH_DH_su5_C		0.453	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		G	YP_003024036		13843	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	missense	SNP	NULL	A
NPC1L1	29881	genome.wustl.edu	37	7	44553224	44553224	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr7:44553224G>T	ENST00000289547.4	-	20	3957	c.3902C>A	c.(3901-3903)gCa>gAa	p.A1301E	NPC1L1_ENST00000381160.3_Missense_Mutation_p.A1274E|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A1228E	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1301					cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTGCTCCAGTGCCAGAGCCGG	0.592																																																	0													62.0	65.0	64.0					7																	44553224		2203	4300	6503	SO:0001583	missense	29881				CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.3902C>A	7.37:g.44553224G>T	ENSP00000289547:p.Ala1301Glu		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.A1301E	ENST00000289547.4	37	c.3902	CCDS5491.1	7	.	.	.	.	.	.	.	.	.	.	G	7.351	0.622904	0.14193	.	.	ENSG00000015520	ENST00000289547;ENST00000381160;ENST00000546276	D;D;D	0.93247	-3.07;-3.09;-3.19	3.49	-0.0793	0.13711	.	.	.	.	.	T	0.79828	0.4513	N	0.14661	0.345	0.22745	N	0.998788	B;B;P	0.34909	0.229;0.015;0.475	B;B;B	0.25759	0.063;0.014;0.063	T	0.71206	-0.4661	9	0.02654	T	1	-7.0606	6.7765	0.23622	0.6733:0.0:0.3267:0.0	.	1228;1274;1301	B7ZLE6;Q17RV5;D3DVK9	.;.;.	E	1301;1274;1228	ENSP00000289547:A1301E;ENSP00000370552:A1274E;ENSP00000438033:A1228E	ENSP00000289547:A1301E	A	-	2	0	NPC1L1	44519749	0.109000	0.22037	0.488000	0.27440	0.100000	0.18952	0.828000	0.27435	-0.019000	0.14055	-0.379000	0.06801	GCA	NPC1L1	-	NULL		0.592	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	NPC1L1	HGNC	protein_coding	OTTHUMT00000251256.1	G	NM_013389		44553224	-1	no_errors	ENST00000289547	ensembl	human	known	70_37	missense	SNP	0.903	T
PARP2	10038	genome.wustl.edu	37	14	20815064	20815064	+	Silent	SNP	C	C	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr14:20815064C>T	ENST00000250416.5	+	4	382	c.355C>T	c.(355-357)Cta>Tta	p.L119L	PARP2_ENST00000429687.3_Silent_p.L106L|RP11-203M5.2_ENST00000528210.1_RNA|PARP2_ENST00000527915.1_Silent_p.L119L	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	119					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TGATGTCATGCTAAATCAGGT	0.368								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									0													180.0	173.0	176.0					14																	20815064		1882	4125	6007	SO:0001819	synonymous_variant	10038			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.355C>T	14.37:g.20815064C>T			Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Silent	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.L119	ENST00000250416.5	37	c.355	CCDS41910.1	14																																																																																			PARP2	-	pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain		0.368	PARP2-002	KNOWN	basic|CCDS	protein_coding	PARP2	HGNC	protein_coding	OTTHUMT00000387847.2	C			20815064	+1	no_errors	ENST00000250416	ensembl	human	known	70_37	silent	SNP	0.990	T
PCDHA11	56138	genome.wustl.edu	37	5	140250200	140250200	+	Silent	SNP	G	G	A			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr5:140250200G>A	ENST00000398640.2	+	1	1512	c.1512G>A	c.(1510-1512)tcG>tcA	p.S504S	PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018902.3	NP_061725.1	Q9Y5I1	PCDAB_HUMAN	protocadherin alpha 11	504	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCTGTCGAGCTACGTGT	0.692																																																	0													61.0	67.0	65.0					5																	140250200		2203	4298	6501	SO:0001819	synonymous_variant	56138			AF152476	CCDS47284.1, CCDS75326.1	5q31	2010-11-26			ENSG00000249158	ENSG00000249158		"""Cadherins / Protocadherins : Clustered"""	8665	other	complex locus constituent	"""KIAA0345-like 3"", ""ortholog of mouse CNR7"""	606317		CNRS7		10380929, 10662547	Standard	NM_018902		Approved	CNR7, CRNR7, CNRN7, PCDH-ALPHA11		Q9Y5I1	OTTHUMG00000163369	ENST00000398640.2:c.1512G>A	5.37:g.140250200G>A			B2RN58|O75279	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S504	ENST00000398640.2	37	c.1512	CCDS47284.1	5																																																																																			PCDHA11	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.692	PCDHA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA11	HGNC	protein_coding	OTTHUMT00000372885.2	G	NM_018902		140250200	+1	no_errors	ENST00000398640	ensembl	human	known	70_37	silent	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	rs397517201		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		Q -> E (in BC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> K (in OC; unknown pathological significance). {ECO:0000269|PubMed:15520168}.|Q -> P (found in an anaplastic astrocytoma sample; unknown pathological significance). {ECO:0000269|PubMed:15289301}.|Q -> R (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.Q546R(30)|p.Q546P(18)|p.Q546L(5)		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)	ATCACTGAGCAGGAGAAAGAT	0.363		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"""	53	Substitution - Missense(53)	endometrium(18)|breast(17)|large_intestine(10)|central_nervous_system(3)|prostate(2)|upper_aerodigestive_tract(1)|stomach(1)|ovary(1)											61.0	61.0	61.0					3																	178936095		1813	4072	5885	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.1637A>G	3.37:g.178936095A>G	ENSP00000263967:p.Gln546Arg		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.Q546R	ENST00000263967.3	37	c.1637	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	22.8	4.332178	0.81801	.	.	ENSG00000121879	ENST00000263967	T	0.63417	-0.04	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	0.75657	0.3879	M	0.64404	1.975	0.80722	D	1	D	0.63046	0.992	D	0.65323	0.934	T	0.76782	-0.2832	10	0.52906	T	0.07	-14.2064	16.1026	0.81194	1.0:0.0:0.0:0.0	.	546	P42336	PK3CA_HUMAN	R	546	ENSP00000263967:Q546R	ENSP00000263967:Q546R	Q	+	2	0	PIK3CA	180418789	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	8.962000	0.93254	2.198000	0.70561	0.383000	0.25322	CAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	A			178936095	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	G
PLA2G4E	123745	genome.wustl.edu	37	15	42302330	42302330	+	Missense_Mutation	SNP	G	G	C	rs267604201|rs55746726|rs202221046	byFrequency	TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr15:42302330G>C	ENST00000413860.2	-	1	115	c.116C>G	c.(115-117)gCc>gGc	p.A39G	PLA2G4E_ENST00000399518.3_Intron|CTD-2382E5.2_ENST00000552704.1_RNA			Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	49	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phospholipase A2 activity (GO:0004623)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		CAGAACACTGGCCCCCCCACC	0.592																																																	0													54.0	65.0	62.0					15																	42302330		1817	3930	5747	SO:0001583	missense	123745				CCDS55962.1	15q15.1	2008-09-19			ENSG00000188089	ENSG00000188089	3.1.1.4		24791	protein-coding gene	gene with protein product						15866882	Standard	NM_001206670		Approved	FLJ45651	uc021sjp.1	Q3MJ16	OTTHUMG00000130371	ENST00000413860.2:c.116C>G	15.37:g.42302330G>C	ENSP00000413897:p.Ala39Gly		Q6ZSC0	Missense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.A39G	ENST00000413860.2	37	c.116		15	.	.	.	.	.	.	.	.	.	.	G	3.359	-0.130971	0.06753	.	.	ENSG00000188089	ENST00000413860	T	0.01516	4.81	2.95	-0.0271	0.13927	.	.	.	.	.	T	0.01421	0.0046	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.46596	-0.9180	8	0.42905	T	0.14	.	3.7379	0.08518	0.2199:0.2113:0.5689:0.0	rs55746726	39	C9JK77	.	G	39	ENSP00000413897:A39G	ENSP00000413897:A39G	A	-	2	0	PLA2G4E	40089622	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.650000	0.05378	0.015000	0.14971	0.462000	0.41574	GCC	PLA2G4E	-	pfscan_C2_membr_targeting		0.592	PLA2G4E-201	KNOWN	basic	protein_coding	PLA2G4E	HGNC	protein_coding		G	NM_198442		42302330	-1	no_errors	ENST00000413860	ensembl	human	known	70_37	missense	SNP	0.000	C
PRPF40B	25766	genome.wustl.edu	37	12	50025307	50025307	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr12:50025307G>T	ENST00000380281.1	+	2	206	c.142G>T	c.(142-144)Gcg>Tcg	p.A48S	PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70S|PRPF40B_ENST00000261897.1_Missense_Mutation_p.A42S			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	48	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						ACCAATGGGGGCGCCACCACC	0.607																																																	0													64.0	69.0	67.0					12																	50025307		2203	4300	6503	SO:0001583	missense	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.142G>T	12.37:g.50025307G>T	ENSP00000369634:p.Ala48Ser		O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.A48S	ENST00000380281.1	37	c.142		12	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807719	0.50421	.	.	ENSG00000110844	ENST00000548825;ENST00000261897;ENST00000380281	T;T;T	0.24538	1.89;1.85;1.86	5.41	5.41	0.78517	.	0.107089	0.39341	N	0.001388	T	0.19446	0.0467	N	0.22421	0.69	0.41921	D	0.990514	B;B;B	0.25272	0.075;0.122;0.122	B;B;B	0.25405	0.027;0.06;0.06	T	0.05920	-1.0856	9	.	.	.	-11.7007	17.0575	0.86539	0.0:0.0:1.0:0.0	.	48;42;48	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	S	70;42;48	ENSP00000448073:A70S;ENSP00000261897:A42S;ENSP00000369634:A48S	.	A	+	1	0	PRPF40B	48311574	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.498000	0.66931	2.699000	0.92147	0.655000	0.94253	GCG	PRPF40B	-	NULL		0.607	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	G	NM_012272		50025307	+1	no_errors	ENST00000380281	ensembl	human	known	70_37	missense	SNP	1.000	T
PTPRS	5802	genome.wustl.edu	37	19	5244287	5244287	+	Missense_Mutation	SNP	C	C	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr19:5244287C>T	ENST00000587303.1	-	10	1294	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	PTPRS_ENST00000348075.2_Missense_Mutation_p.E386K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E386K|PTPRS_ENST00000372412.4_Missense_Mutation_p.E400K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E386K|PTPRS_ENST00000357368.4_Missense_Mutation_p.E399K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E395K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.E386K			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	399	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	ACCCAGATCTCGTACTCCGAG	0.637																																																	0													66.0	56.0	59.0					19																	5244287		2203	4300	6503	SO:0001583	missense	5802			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.1195G>A	19.37:g.5244287C>T	ENSP00000467537:p.Glu399Lys		O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like	p.E400K	ENST00000587303.1	37	c.1198	CCDS45930.1	19	.	.	.	.	.	.	.	.	.	.	C	29.7	5.030517	0.93575	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35	3.87	3.87	0.44632	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.082681	0.47455	U	0.000237	T	0.71341	0.3328	M	0.79011	2.435	0.34361	D	0.690993	P;P;P;D;D;P	0.89917	0.718;0.605;0.74;1.0;1.0;0.92	B;B;B;D;D;B	0.81914	0.294;0.145;0.228;0.953;0.995;0.435	T	0.79217	-0.1894	10	0.33940	T	0.23	.	16.0207	0.80486	0.0:1.0:0.0:0.0	.	399;386;390;386;399;412	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	K	412;400;399;399;399;395;386;399;390;386	ENSP00000361489:E400K;ENSP00000349932:E399K;ENSP00000262963:E395K;ENSP00000269907:E386K;ENSP00000327313:E386K	ENSP00000262963:E395K	E	-	1	0	PTPRS	5195287	1.000000	0.71417	0.991000	0.47740	0.910000	0.53928	7.545000	0.82128	2.018000	0.59344	0.561000	0.74099	GAG	PTPRS	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.637	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRS	HGNC	protein_coding	OTTHUMT00000450762.2	C			5244287	-1	no_errors	ENST00000372412	ensembl	human	known	70_37	missense	SNP	1.000	T
RBM27	54439	genome.wustl.edu	37	5	145603092	145603092	+	Splice_Site	SNP	T	T	A			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr5:145603092T>A	ENST00000265271.5	+	3	469		c.e3+2		RBM27_ENST00000506502.1_Splice_Site	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27						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)			AAAGAAGAGGTAATGCAAATT	0.368																																																	0													85.0	83.0	83.0					5																	145603092		1568	3581	5149	SO:0001630	splice_region_variant	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.303+2T>A	5.37:g.145603092T>A			Q8IYW9	Splice_Site	SNP	-	e3+2	ENST00000265271.5	37	c.303+2	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	T	17.36	3.369336	0.61624	.	.	ENSG00000091009	ENST00000265271	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.192	0.81996	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RBM27	145583285	1.000000	0.71417	0.997000	0.53966	0.780000	0.44128	6.780000	0.75063	2.229000	0.72834	0.482000	0.46254	.	RBM27	-	-		0.368	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	T	XM_291128	Intron	145603092	+1	no_errors	ENST00000265271	ensembl	human	known	70_37	splice_site	SNP	0.989	A
RPS10P7	376693	genome.wustl.edu	37	1	201489718	201489719	+	lincRNA	INS	-	-	A	rs368652175		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr1:201489718_201489719insA	ENST00000441932.1	+	0	1888_1889				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1				ribosomal protein S10 pseudogene 7																		AACTTACAGTCAAAAAAAaaaa	0.421																																																	0																																												376693					1q32.1	2010-06-16				ENSG00000223396			36423	pseudogene	pseudogene						19123937	Standard	NR_026667		Approved		uc010ppt.3				1.37:g.201489729_201489729dupA				RNA	INS	-	NULL	ENST00000441932.1	37	NULL		1																																																																																			RPS10P7	-	-		0.421	RPS10P7-001	KNOWN	basic	lincRNA	RPS10P7	HGNC	lincRNA	OTTHUMT00000087024.1	-	NR_026667		201489719	+1	no_errors	ENST00000441932	ensembl	human	known	70_37	rna	INS	0.051:0.056	A
SCN3B	55800	genome.wustl.edu	37	11	123508894	123508894	+	Splice_Site	SNP	G	G	A			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr11:123508894G>A	ENST00000392770.2	-	4	1386	c.584C>T	c.(583-585)gCg>gTg	p.A195V	SCN3B_ENST00000530277.1_Splice_Site_p.A195V|SCN3B_ENST00000299333.3_Splice_Site_p.A195V	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	195			A -> T (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	CTGGACTTACGCGTTTTCTTG	0.463																																																	0													134.0	109.0	117.0					11																	123508894		2202	4299	6501	SO:0001630	splice_region_variant	55800			AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.584+1C>T	11.37:g.123508894G>A			A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like	p.A195V	ENST00000392770.2	37	c.584	CCDS8442.1	11	.	.	.	.	.	.	.	.	.	.	G	15.88	2.964428	0.53507	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277	D;D;D	0.96992	-4.2;-4.2;-4.2	5.7	5.7	0.88788	.	0.046988	0.85682	D	0.000000	D	0.90783	0.7106	L	0.31065	0.9	0.58432	D	0.999998	P	0.36874	0.572	B	0.21546	0.035	D	0.89556	0.3803	9	.	.	.	0.001	13.0828	0.59123	0.0729:0.0:0.9271:0.0	.	195	Q9NY72	SCN3B_HUMAN	V	195	ENSP00000376523:A195V;ENSP00000299333:A195V;ENSP00000432785:A195V	.	A	-	2	0	SCN3B	123014104	1.000000	0.71417	1.000000	0.80357	0.842000	0.47809	3.023000	0.49666	2.683000	0.91414	0.655000	0.94253	GCG	SCN3B	-	NULL		0.463	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN3B	HGNC	protein_coding	OTTHUMT00000387412.1	G	NM_018400	Missense_Mutation	123508894	-1	no_errors	ENST00000299333	ensembl	human	known	70_37	missense	SNP	1.000	A
SPANXN2	494119	genome.wustl.edu	37	X	142795145	142795145	+	Missense_Mutation	SNP	C	C	A			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chrX:142795145C>A	ENST00000370498.1	-	2	1286	c.533G>T	c.(532-534)gGg>gTg	p.G178V		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	178										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGTCCTCCCCACCCTCCTG	0.473																																																	0													219.0	193.0	202.0					X																	142795145		2203	4300	6503	SO:0001583	missense	494119				CCDS35419.1	Xq27.3	2012-06-12			ENSG00000203924	ENSG00000268988			33175	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 7"""	300665				14973187, 17012309	Standard	NM_001009615		Approved	SPANX-N2, CT11.7	uc004fbz.3	Q5MJ10	OTTHUMG00000022583	ENST00000370498.1:c.533G>T	X.37:g.142795145C>A	ENSP00000359529:p.Gly178Val		Q0ZNM2	Missense_Mutation	SNP	pfam_SPANX_prot	p.G178V	ENST00000370498.1	37	c.533	CCDS35419.1	X	.	.	.	.	.	.	.	.	.	.	c	0.023	-1.404899	0.01155	.	.	ENSG00000203924	ENST00000370498	T	0.08896	3.04	0.528	-1.06	0.10002	.	.	.	.	.	T	0.03053	0.0090	N	0.24115	0.695	0.09310	N	1	P	0.42757	0.789	B	0.23852	0.049	T	0.29243	-1.0018	8	0.44086	T	0.13	.	.	.	.	.	178	Q5MJ10	SPXN2_HUMAN	V	178	ENSP00000359529:G178V	ENSP00000359529:G178V	G	-	2	0	SPANXN2	142622811	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.976000	0.01497	-3.055000	0.00258	-2.276000	0.00273	GGG	SPANXN2	-	NULL		0.473	SPANXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN2	HGNC	protein_coding	OTTHUMT00000058621.2	C	NM_001009615		142795145	-1	no_errors	ENST00000370498	ensembl	human	known	70_37	missense	SNP	0.016	A
SPP1	6696	genome.wustl.edu	37	4	88904020	88904020	+	Missense_Mutation	SNP	T	T	C	rs45452992		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr4:88904020T>C	ENST00000395080.3	+	7	1044	c.917T>C	c.(916-918)tTa>tCa	p.L306S	SPP1_ENST00000360804.4_Missense_Mutation_p.L279S|SPP1_ENST00000237623.7_Missense_Mutation_p.L292S|SPP1_ENST00000509659.1_3'UTR	NM_001040058.1|NM_001251830.1	NP_001035147.1|NP_001238759.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	306					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|negative regulation of collateral sprouting of intact axon in response to injury (GO:0048685)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell-substrate adhesion (GO:0010811)|response to steroid hormone (GO:0048545)|response to vitamin D (GO:0033280)	apical part of cell (GO:0045177)|cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix binding (GO:0050840)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		TCTCATGAATTAGATAGTGCA	0.333																																																	0													58.0	64.0	62.0					4																	88904020		2203	4300	6503	SO:0001583	missense	6696				CCDS3626.1, CCDS34027.1, CCDS43250.1	4q22.1	2014-01-30	2008-07-31		ENSG00000118785	ENSG00000118785		"""Endogenous ligands"""	11255	protein-coding gene	gene with protein product	"""early T-lymphocyte activation 1"""	166490	"""osteopontin"", ""bone sialoprotein I"""	BNSP, OPN		1575754	Standard	NM_001251829		Approved	BSPI, ETA-1	uc003hra.3	P10451	OTTHUMG00000130599	ENST00000395080.3:c.917T>C	4.37:g.88904020T>C	ENSP00000378517:p.Leu306Ser		B2RDA1|Q15681|Q15682|Q15683|Q4W597|Q567T5|Q8NBK2|Q96IZ1	Missense_Mutation	SNP	pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin	p.L306S	ENST00000395080.3	37	c.917	CCDS43250.1	4	.	.	.	.	.	.	.	.	.	.	T	12.72	2.022216	0.35701	.	.	ENSG00000118785	ENST00000359072;ENST00000535912;ENST00000237623;ENST00000395080;ENST00000360804	T;T;T	0.44881	0.91;0.91;0.91	5.8	2.03	0.26663	.	0.894418	0.09475	N	0.797184	T	0.31734	0.0806	L	0.31752	0.955	0.29982	N	0.817617	B;B;B;B;B	0.31413	0.322;0.322;0.322;0.17;0.211	B;B;B;B;B	0.32980	0.156;0.156;0.156;0.11;0.11	T	0.34725	-0.9817	10	0.54805	T	0.06	-2.9858	7.6009	0.28075	0.0:0.2501:0.0:0.7499	.	319;265;292;279;306	B7Z351;Q3LGB0;B2RDA1;Q567T5;P10451	.;.;.;.;OSTP_HUMAN	S	284;265;292;306;279	ENSP00000237623:L292S;ENSP00000378517:L306S;ENSP00000354042:L279S	ENSP00000237623:L292S	L	+	2	0	SPP1	89123044	0.979000	0.34478	0.979000	0.43373	0.827000	0.46813	1.423000	0.34837	0.468000	0.27243	0.523000	0.50628	TTA	SPP1	-	pfam_Osteopontin,smart_Osteopontin,prints_Osteopontin		0.333	SPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPP1	HGNC	protein_coding	OTTHUMT00000253048.3	T			88904020	+1	no_errors	ENST00000395080	ensembl	human	known	70_37	missense	SNP	0.963	C
TDRD6	221400	genome.wustl.edu	37	6	46656384	46656384	+	Silent	SNP	G	G	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr6:46656384G>T	ENST00000316081.6	+	1	519	c.519G>T	c.(517-519)gtG>gtT	p.V173V	TDRD6_ENST00000544460.1_Silent_p.V173V|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA|RP11-446F17.3_ENST00000422284.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	173					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCCTGGACGTGCTGCTGCTCC	0.687																																																	0													41.0	44.0	43.0					6																	46656384		2200	4292	6492	SO:0001819	synonymous_variant	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.519G>T	6.37:g.46656384G>T			B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.V173	ENST00000316081.6	37	c.519	CCDS34470.1	6																																																																																			TDRD6	-	NULL		0.687	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	G	XM_166443		46656384	+1	no_errors	ENST00000316081	ensembl	human	known	70_37	silent	SNP	1.000	T
TNRC18	84629	genome.wustl.edu	37	7	5360800	5360800	+	Missense_Mutation	SNP	T	T	C			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr7:5360800T>C	ENST00000430969.1	-	22	6812	c.6464A>G	c.(6463-6465)gAc>gGc	p.D2155G	TNRC18_ENST00000399537.4_Missense_Mutation_p.D2155G	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2155							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTCATCCTTGTCGATGATGCA	0.642																																																	0													20.0	17.0	18.0					7																	5360800		1542	3518	5060	SO:0001583	missense	84629			U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.6464A>G	7.37:g.5360800T>C	ENSP00000395538:p.Asp2155Gly		A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.D2155G	ENST00000430969.1	37	c.6464	CCDS47534.1	7	.	.	.	.	.	.	.	.	.	.	t	12.23	1.876550	0.33162	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.41400	1.0;1.0	3.98	3.98	0.46160	.	.	.	.	.	T	0.46639	0.1403	L	0.34521	1.04	0.36831	D	0.886888	D	0.56968	0.978	P	0.57776	0.827	T	0.52305	-0.8593	9	0.38643	T	0.18	.	13.172	0.59604	0.0:0.0:0.0:1.0	.	2155	O15417	TNC18_HUMAN	G	2155	ENSP00000382452:D2155G;ENSP00000395538:D2155G	ENSP00000382452:D2155G	D	-	2	0	TNRC18	5327326	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	7.315000	0.78998	1.563000	0.49615	0.454000	0.30748	GAC	TNRC18	-	NULL		0.642	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNRC18	HGNC	protein_coding		T			5360800	-1	no_errors	ENST00000399537	ensembl	human	known	70_37	missense	SNP	1.000	C
TPTEP1	387590	genome.wustl.edu	37	22	17131536	17131537	+	lincRNA	INS	-	-	CTG	rs34452519|rs145731851	byFrequency	TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr22:17131536_17131537insCTG	ENST00000426585.1	+	0	2562_2563									transmembrane phosphatase with tensin homology pseudogene 1																		TGCCCACTCTTCTGGTCTCATG	0.54														912	0.182109	0.0265	0.0865	5008	,	,		18499	0.2569		0.2256	False		,,,				2504	0.3384																0																																												387590					22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17131537_17131539dupCTG				RNA	INS	-	NULL	ENST00000426585.1	37	NULL		22																																																																																			TPTEP1	-	-		0.540	TPTEP1-002	KNOWN	basic	lincRNA	TPTEP1	HGNC	lincRNA	OTTHUMT00000280575.1	-	NR_001591		17131537	+1	no_errors	ENST00000426585	ensembl	human	known	70_37	rna	INS	0.999:0.999	CTG
TTBK1	84630	genome.wustl.edu	37	6	43230717	43230717	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr6:43230717G>A	ENST00000259750.4	+	13	1698	c.1615G>A	c.(1615-1617)Gac>Aac	p.D539N	TTBK1_ENST00000304139.5_Missense_Mutation_p.D488N	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	539					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGAGGATTTCGACAGCAAAGA	0.642																																																	0													89.0	64.0	73.0					6																	43230717		2203	4300	6503	SO:0001583	missense	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1615G>A	6.37:g.43230717G>A	ENSP00000259750:p.Asp539Asn		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	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	p.D539N	ENST00000259750.4	37	c.1615	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	27.4	4.826411	0.90955	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.27402	1.67	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.42743	0.1216	L	0.52573	1.65	0.40219	D	0.977713	D;D	0.89917	1.0;1.0	D;D	0.78314	0.991;0.99	T	0.35773	-0.9775	10	0.87932	D	0	.	16.2562	0.82517	0.0:0.0:1.0:0.0	.	62;539	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	N	488;539;488	ENSP00000259750:D539N	ENSP00000259750:D539N	D	+	1	0	TTBK1	43338695	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.476000	0.97823	2.580000	0.87095	0.555000	0.69702	GAC	TTBK1	-	NULL		0.642	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	G			43230717	+1	no_errors	ENST00000259750	ensembl	human	known	70_37	missense	SNP	1.000	A
WIZ	58525	genome.wustl.edu	37	19	15550387	15550387	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr19:15550387G>A	ENST00000389282.4	-	3	1487	c.1274C>T	c.(1273-1275)gCg>gTg	p.A425V	WIZ_ENST00000263381.7_Intron			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs	425					positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.A425V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						CTCGCTGGGCGCGGGGAAACC	0.677																																																	1	Substitution - Missense(1)	pancreas(1)																																								SO:0001583	missense	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.1274C>T	19.37:g.15550387G>A	ENSP00000373933:p.Ala425Val		B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A425V	ENST00000389282.4	37	c.1274		19	.	.	.	.	.	.	.	.	.	.	G	18.01	3.526868	0.64860	.	.	ENSG00000011451	ENST00000389282	T	0.03386	3.95	5.13	5.13	0.70059	.	0.108090	0.39615	N	0.001311	T	0.08758	0.0217	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38415	-0.9662	7	0.25106	T	0.35	-18.5098	15.606	0.76672	0.0:0.0:1.0:0.0	.	.	.	.	V	425	ENSP00000373933:A425V	ENSP00000373933:A425V	A	-	2	0	WIZ	15411387	0.999000	0.42202	0.514000	0.27761	0.353000	0.29299	5.741000	0.68638	2.673000	0.90976	0.591000	0.81541	GCG	WIZ	-	smart_Znf_C2H2-like		0.677	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		G	NM_021241		15550387	-1	no_errors	ENST00000389282	ensembl	human	known	70_37	missense	SNP	0.865	A
ZDHHC11B	653082	genome.wustl.edu	37	5	766931	766931	+	Missense_Mutation	SNP	G	G	A			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr5:766931G>A	ENST00000382776.4	-	1	103	c.104C>T	c.(103-105)tCg>tTg	p.S35L	ZDHHC11B_ENST00000508859.2_Missense_Mutation_p.S46L|ZDHHC11_ENST00000424784.2_Intron			P0C7U3	ZH11B_HUMAN	zinc finger, DHHC-type containing 11B	35						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			lung(3)|stomach(1)	4						CAGGGGTAACGACCAGCCGTT	0.602																																																	0																																										SO:0001583	missense	653082					5p15.33	2007-01-29				ENSG00000206077		"""Zinc fingers, DHHC-type"""	32962	protein-coding gene	gene with protein product							Standard	XM_003118532		Approved			P0C7U3		ENST00000382776.4:c.104C>T	5.37:g.766931G>A	ENSP00000445280:p.Ser35Leu		A6NHR3	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.S35L	ENST00000382776.4	37	c.104		5	.	.	.	.	.	.	.	.	.	.	-	15.14	2.745225	0.49151	.	.	ENSG00000206077	ENST00000508859;ENST00000382776	T;T	0.28895	1.59;1.59	2.68	2.68	0.31781	.	.	.	.	.	T	0.42314	0.1197	.	.	.	0.40427	D	0.9799	.	.	.	.	.	.	T	0.44907	-0.9297	6	0.62326	D	0.03	-16.9118	10.5833	0.45267	0.0:0.0:1.0:0.0	.	.	.	.	L	46;35	ENSP00000442373:S46L;ENSP00000445280:S35L	ENSP00000445280:S35L	S	-	2	0	ZDHHC11B	819931	0.997000	0.39634	0.655000	0.29622	0.004000	0.04260	2.688000	0.46984	1.482000	0.48325	0.543000	0.68304	TCG	ZDHHC11B	-	NULL		0.602	ZDHHC11B-201	KNOWN	basic|appris_candidate	protein_coding	ZDHHC11B	HGNC	protein_coding		G	XM_926053		766931	-1	no_errors	ENST00000382776	ensembl	human	known	70_37	missense	SNP	0.981	A
ZFHX2	85446	genome.wustl.edu	37	14	23994585	23994585	+	Silent	SNP	G	G	A			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr14:23994585G>A	ENST00000419474.3	-	9	4921	c.4566C>T	c.(4564-4566)agC>agT	p.S1522S	RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN	zinc finger homeobox 2	1522					adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						GGCTGTCATAGCTCTTTCGAA	0.557																																																	0																																										SO:0001819	synonymous_variant	85446			AB051549	CCDS55907.1	14q11.2	2012-03-09			ENSG00000136367	ENSG00000136367		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	20152	protein-coding gene	gene with protein product			"""zinc finger protein 409"""	ZNF409		11214970, 10470851	Standard	NM_033400		Approved	KIAA1762, KIAA1056, ZFH-5	uc010tno.2	Q9C0A1	OTTHUMG00000156894	ENST00000419474.3:c.4566C>T	14.37:g.23994585G>A			Q9UPU6	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.S1522	ENST00000419474.3	37	c.4566	CCDS55907.1	14																																																																																			ZFHX2	-	superfamily_Adenylate_cyclase-assoc_CAP_N		0.557	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ZFHX2	HGNC	protein_coding	OTTHUMT00000346484.3	G	NM_014894		23994585	-1	no_errors	ENST00000419474	ensembl	human	known	70_37	silent	SNP	0.989	A
ZNF143	7702	genome.wustl.edu	37	11	9496112	9496112	+	Missense_Mutation	SNP	G	G	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr11:9496112G>T	ENST00000396602.2	+	5	424	c.305G>T	c.(304-306)cGt>cTt	p.R102L	ZNF143_ENST00000396604.1_Missense_Mutation_p.R101L|ZNF143_ENST00000396597.3_Missense_Mutation_p.R71L|ZNF143_ENST00000530463.1_Missense_Mutation_p.R101L|ZNF143_ENST00000299606.2_Intron	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	102					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GACAGTTTGCGTCTAGAGGAT	0.363																																																	0													162.0	142.0	149.0					11																	9496112		2201	4294	6495	SO:0001583	missense	7702			U09850	CCDS7799.2, CCDS60720.1, CCDS60721.1	11p15.4	2013-01-08	2006-06-13		ENSG00000166478	ENSG00000166478		"""Zinc fingers, C2H2-type"""	12928	protein-coding gene	gene with protein product		603433	"""zinc finger protein 143 (clone pHZ-1)"""				Standard	NM_003442		Approved	SBF, pHZ-1, STAF	uc001mhr.3	P52747	OTTHUMG00000149922	ENST00000396602.2:c.305G>T	11.37:g.9496112G>T	ENSP00000379847:p.Arg102Leu		A8K518|B4DLY5|E7ER34|O75559|Q8WUK9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R102L	ENST00000396602.2	37	c.305	CCDS7799.2	11	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582212	0.65992	.	.	ENSG00000166478	ENST00000531943;ENST00000396604;ENST00000396602;ENST00000530463;ENST00000533542;ENST00000532577;ENST00000396597;ENST00000438144;ENST00000526657;ENST00000534265;ENST00000412390	T;T;T;T;T;T;T;T;T;T;T	0.46063	0.91;2.92;2.95;2.92;0.9;0.9;2.98;0.93;0.88;0.92;0.89	5.62	5.62	0.85841	.	0.153083	0.46442	D	0.000297	T	0.34774	0.0909	L	0.44542	1.39	0.80722	D	1	P;P;P	0.41748	0.761;0.649;0.649	B;B;B	0.35182	0.197;0.097;0.097	T	0.13098	-1.0522	10	0.12103	T	0.63	.	19.6576	0.95849	0.0:0.0:1.0:0.0	.	71;101;102	P52747-2;E7ER34;P52747	.;.;ZN143_HUMAN	L	102;101;102;101;70;101;71;102;102;102;101	ENSP00000434638:R102L;ENSP00000379849:R101L;ENSP00000379847:R102L;ENSP00000432154:R101L;ENSP00000434922:R70L;ENSP00000433221:R101L;ENSP00000379843:R71L;ENSP00000409432:R102L;ENSP00000435881:R102L;ENSP00000433743:R102L;ENSP00000388628:R101L	ENSP00000379843:R71L	R	+	2	0	ZNF143	9452688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.225000	0.78051	2.651000	0.90000	0.650000	0.86243	CGT	ZNF143	-	NULL		0.363	ZNF143-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF143	HGNC	protein_coding	OTTHUMT00000313921.2	G	NM_003442		9496112	+1	no_errors	ENST00000396602	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF681	148213	genome.wustl.edu	37	19	23926852	23926852	+	Silent	SNP	A	A	G	rs375345647		TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr19:23926852A>G	ENST00000402377.3	-	4	1641	c.1500T>C	c.(1498-1500)caT>caC	p.H500H	ZNF681_ENST00000395385.3_Silent_p.H431H	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	500					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TCTCTCCAGTATGAATTCTCT	0.363																																																	0								A		0,4380		0,0,2190	49.0	54.0	53.0		1500	0.3	0.2	19		53	2,8578		0,2,4288	no	coding-synonymous	ZNF681	NM_138286.2		0,2,6478	GG,GA,AA		0.0233,0.0,0.0154		500/646	23926852	2,12958	2190	4290	6480	SO:0001819	synonymous_variant	148213			AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1500T>C	19.37:g.23926852A>G			B3KVF7	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.H500	ENST00000402377.3	37	c.1500	CCDS12414.2	19																																																																																			ZNF681	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.363	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF681	HGNC	protein_coding	OTTHUMT00000320248.2	A	NM_138286		23926852	-1	no_errors	ENST00000402377	ensembl	human	known	70_37	silent	SNP	1.000	G
ZNF703	80139	genome.wustl.edu	37	8	37556105	37556105	+	Silent	SNP	G	G	T			TCGA-FU-A57G-01A-11D-A26G-09	TCGA-FU-A57G-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	feec64b6-4789-4b18-8664-27eeefb36a57	8688044c-e6a4-45a0-9266-dde6e8873fc9	g.chr8:37556105G>T	ENST00000331569.4	+	2	1915	c.1686G>T	c.(1684-1686)ccG>ccT	p.P562P		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	562					adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			TGGCCGTGCCGTCCCTCCCCA	0.617																																																	0													30.0	28.0	29.0					8																	37556105		2203	4300	6503	SO:0001819	synonymous_variant	80139			AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1686G>T	8.37:g.37556105G>T			Q5XG76	Silent	SNP	pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.P562	ENST00000331569.4	37	c.1686	CCDS6094.1	8																																																																																			ZNF703	-	NULL		0.617	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF703	HGNC	protein_coding	OTTHUMT00000376683.2	G	NM_025069		37556105	+1	no_errors	ENST00000331569	ensembl	human	known	70_37	silent	SNP	0.925	T
