#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_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
AATF	26574	genome.wustl.edu	37	17	35310466	35310466	+	Silent	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:35310466C>T	ENST00000225402.5	+	3	815	c.564C>T	c.(562-564)gaC>gaT	p.D188D		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	188	Glu-rich.				apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				ACGCGGAAGACTCCCAAGGCG	0.507																																					NSCLC(49;901 1159 19183 41572 46244)												0													227.0	206.0	213.0					17																	35310466		2203	4300	6503	SO:0001819	synonymous_variant	0			AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.564C>T	17.37:g.35310466C>T			A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Silent	SNP	pfam_AATF_C	p.D188	ENST00000225402.5	37	c.564	CCDS32632.1	17																																																																																			AATF	-	NULL	ENSG00000108270		0.507	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATF	HGNC	protein_coding	OTTHUMT00000451543.1		0.00	39	0	C	NM_012138		35310466	+1			no_errors	ENST00000225402	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.000	T
ABCB9	23457	genome.wustl.edu	37	12	123424682	123424682	+	Silent	SNP	G	G	A	rs369328306		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:123424682G>A	ENST00000542678.1	-	9	4557	c.1719C>T	c.(1717-1719)taC>taT	p.Y573Y	ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000442833.2_Silent_p.Y573Y|ABCB9_ENST00000344275.7_Silent_p.Y573Y|ABCB9_ENST00000280560.8_Silent_p.Y573Y|ABCB9_ENST00000540285.1_Silent_p.Y510Y|ABCB9_ENST00000442028.2_Silent_p.Y573Y|ABCB9_ENST00000392439.3_Silent_p.Y573Y|ABCB9_ENST00000346530.5_Silent_p.Y530Y			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	573	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|peptide-transporting ATPase activity (GO:0015440)|protein homodimerization activity (GO:0042803)|substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		ACTTGTGGTCGTAGGCGCTGA	0.602													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17536	0.0		0.0	False		,,,				2504	0.0				Ovarian(49;786 1333 9175 38236)												0								G	,,	1,4405		0,1,2202	33.0	30.0	31.0		1590,1719,1719	-3.4	1.0	12		31	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ABCB9	NM_019624.3,NM_019625.3,NM_203444.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	530/724,573/767,573/767	123424682	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			U66676	CCDS9241.1, CCDS58286.1, CCDS58287.1, CCDS58288.1	12q24	2012-03-14			ENSG00000150967	ENSG00000150967		"""ATP binding cassette transporters / subfamily B"""	50	protein-coding gene	gene with protein product		605453				8894702	Standard	NM_019625		Approved	EST122234	uc001udm.4	Q9NP78		ENST00000542678.1:c.1719C>T	12.37:g.123424682G>A			B4E2J0|Q5W9G7|Q769F3|Q769F4|Q96AB1|Q9P208	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.Y573	ENST00000542678.1	37	c.1719	CCDS9241.1	12																																																																																			ABCB9	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000150967		0.602	ABCB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB9	HGNC	protein_coding	OTTHUMT00000400956.1	-	0.00	24	0	G	NM_019624		123424682	-1	tier1	-	no_errors	ENST00000442028	ensembl	human	known	74_37	silent	22.64	41	12	SNP	0.965	A
ADRA2C	152	genome.wustl.edu	37	4	3768788	3768788	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:3768788C>T	ENST00000330055.5	+	1	664	c.455C>T	c.(454-456)tCg>tTg	p.S152L	ADRA2C_ENST00000509482.1_Missense_Mutation_p.S152L	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	152					activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|energy reserve metabolic process (GO:0006112)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|negative regulation of uterine smooth muscle contraction (GO:0070473)|platelet activation (GO:0030168)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of vasoconstriction (GO:0045907)|regulation of insulin secretion (GO:0050796)|regulation of sensory perception of pain (GO:0051930)|small molecule metabolic process (GO:0044281)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Fenoldopam(DB00800)|Iloperidone(DB04946)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Tizanidine(DB00697)|Tolazoline(DB00797)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	CGCTACTGGTCGGTGACGCAG	0.637																																					Esophageal Squamous(12;454 628 4517 14479)												0													71.0	67.0	68.0					4																	3768788		2202	4300	6502	SO:0001583	missense	0			AY455666	CCDS47004.1	4p16.3	2013-10-22	2012-05-09		ENSG00000184160	ENSG00000184160		"""GPCR / Class A : Adrenoceptors : alpha"""	283	protein-coding gene	gene with protein product		104250	"""adrenergic, alpha-2C-, receptor"""	ADRA2L2, ADRA2RL2		1849485	Standard	NM_000683		Approved	ADRARL2	uc003ghm.3	P18825	OTTHUMG00000159830	ENST00000330055.5:c.455C>T	4.37:g.3768788C>T	ENSP00000386069:p.Ser152Leu		P35369|Q9HB49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2C_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam	p.S152L	ENST00000330055.5	37	c.455	CCDS47004.1	4	.	.	.	.	.	.	.	.	.	.	C	22.8	4.332928	0.81801	.	.	ENSG00000184160	ENST00000509482;ENST00000330055	T;T	0.37584	1.19;1.19	3.34	3.34	0.38264	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.61714	0.2369	M	0.83384	2.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.69859	-0.5031	9	0.87932	D	0	.	13.8323	0.63389	0.0:1.0:0.0:0.0	.	152;152	D6RGL0;P18825	.;ADA2C_HUMAN	L	152	ENSP00000426268:S152L;ENSP00000386069:S152L	ENSP00000386069:S152L	S	+	2	0	ADRA2C	3738586	1.000000	0.71417	0.998000	0.56505	0.780000	0.44128	4.848000	0.62874	1.700000	0.51204	0.561000	0.74099	TCG	ADRA2C	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184160		0.637	ADRA2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA2C	HGNC	protein_coding	OTTHUMT00000357607.1	-	0.00	29	0	C	NM_000683		3768788	+1	tier1	-	no_errors	ENST00000330055	ensembl	human	known	74_37	missense	13.92	68	11	SNP	1.000	T
AHSA1	10598	genome.wustl.edu	37	14	77935532	77935532	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:77935532G>T	ENST00000216479.3	+	9	1117	c.957G>T	c.(955-957)tgG>tgT	p.W319C	AHSA1_ENST00000555457.1_3'UTR|SNORA46_ENST00000391069.1_RNA	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	319					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		GACAGGGCTGGCAGCGGTACT	0.572																																																	0													172.0	160.0	164.0					14																	77935532		2203	4300	6503	SO:0001583	missense	0			AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"""chromosome 14 open reading frame 3"""	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.957G>T	14.37:g.77935532G>T	ENSP00000216479:p.Trp319Cys		B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N	p.W319C	ENST00000216479.3	37	c.957	CCDS9863.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.3|25.3	4.623884|4.623884	0.87460|0.87460	.|.	.|.	ENSG00000100591|ENSG00000100591	ENST00000555729|ENST00000555133;ENST00000216479;ENST00000557476	.|T	.|0.58652	.|0.32	5.46|5.46	5.46|5.46	0.80206|0.80206	.|START-like domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.81659|0.81659	0.4869|0.4869	M|M	0.90252|0.90252	3.1|3.1	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.84701|0.84701	0.0728|0.0728	5|10	.|0.87932	.|D	.|0	-5.3466|-5.3466	19.4922|19.4922	0.95054|0.95054	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|319	.|O95433	.|AHSA1_HUMAN	S|C	114|184;319;101	.|ENSP00000451474:W101C	.|ENSP00000216479:W319C	A|W	+|+	1|3	0|0	AHSA1|AHSA1	77005285|77005285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.981000|0.981000	0.71138|0.71138	9.531000|9.531000	0.98054|0.98054	2.843000|2.843000	0.97960|0.97960	0.591000|0.591000	0.81541|0.81541	GCA|TGG	AHSA1	-	pfam_Activator_of_Hsp90_ATPase	ENSG00000100591		0.572	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHSA1	HGNC	protein_coding	OTTHUMT00000414017.1	-	0.00	37	0	G	NM_012111		77935532	+1	tier1	-	no_errors	ENST00000216479	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T
AKR1B10	57016	genome.wustl.edu	37	7	134225941	134225941	+	3'UTR	SNP	C	C	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:134225941C>G	ENST00000359579.4	+	0	1371					NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)						cellular aldehyde metabolic process (GO:0006081)|daunorubicin metabolic process (GO:0044597)|digestion (GO:0007586)|doxorubicin metabolic process (GO:0044598)|farnesol catabolic process (GO:0016488)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid metabolic process (GO:0008202)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	aldo-keto reductase (NADP) activity (GO:0004033)|geranylgeranyl reductase activity (GO:0045550)|indanol dehydrogenase activity (GO:0047718)|retinal dehydrogenase activity (GO:0001758)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						TATTTAAGATCACAGTGAACT	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF052577	CCDS5832.1	7q33	2010-04-08			ENSG00000198074	ENSG00000198074		"""Aldo-keto reductases"""	382	protein-coding gene	gene with protein product	"""aldose reductase-like 1"", ""aldo-keto reductase family 1, member B11 (aldose reductase-like)"", ""aldose reductase-like peptide"", ""aldose reductase-related protein"", ""small intestine reductase"""	604707		AKR1B11		9765596, 9565553	Standard	NM_020299		Approved	AKR1B12, ARL-1, HIS, ARL1, HSI, ALDRLn	uc003vrr.3	O60218	OTTHUMG00000155356	ENST00000359579.4:c.*100C>G	7.37:g.134225941C>G			A4D1P1|O75890|Q6FHF3|Q8IWZ1	RNA	SNP	-	NULL	ENST00000359579.4	37	NULL	CCDS5832.1	7																																																																																			AKR1B10	-	-	ENSG00000198074		0.393	AKR1B10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1B10	HGNC	protein_coding	OTTHUMT00000339615.1	-	0.00	15	0	C	NM_020299		134225941	+1	tier1	-	no_errors	ENST00000496435	ensembl	human	known	74_37	rna	27.59	21	8	SNP	0.001	G
AMD1	262	genome.wustl.edu	37	6	111208746	111208746	+	Nonsense_Mutation	SNP	C	C	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:111208746C>G	ENST00000368885.3	+	2	485	c.149C>G	c.(148-150)tCa>tGa	p.S50*	AMD1_ENST00000368876.1_5'UTR|AMD1_ENST00000451850.2_Intron|AMD1_ENST00000368877.5_Intron|AMD1_ENST00000368882.3_Intron	NM_001634.4	NP_001625.2	P17707	DCAM_HUMAN	adenosylmethionine decarboxylase 1	50					cellular nitrogen compound metabolic process (GO:0034641)|polyamine metabolic process (GO:0006595)|S-adenosylmethioninamine biosynthetic process (GO:0006557)|small molecule metabolic process (GO:0044281)|spermidine biosynthetic process (GO:0008295)|spermine biosynthetic process (GO:0006597)	cytosol (GO:0005829)	adenosylmethionine decarboxylase activity (GO:0004014)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GTGCAATGTTCAATCATAAGT	0.338																																																	0													179.0	173.0	175.0					6																	111208746		2203	4300	6503	SO:0001587	stop_gained	0			M88006	CCDS5086.1, CCDS75504.1, CCDS75505.1	6q21	2014-05-13			ENSG00000123505	ENSG00000123505	4.1.1.50		457	protein-coding gene	gene with protein product		180980	"""S-adenosylmethionine decarboxylase 1"""				Standard	NM_001634		Approved	SAMDC	uc003puk.1	P17707	OTTHUMG00000015369	ENST00000368885.3:c.149C>G	6.37:g.111208746C>G	ENSP00000357880:p.Ser50*		E1P5F7|Q5VXN4|Q5VXN6|Q9BWK4	Nonsense_Mutation	SNP	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr	p.S50*	ENST00000368885.3	37	c.149	CCDS5086.1	6	.	.	.	.	.	.	.	.	.	.	C	38	7.161758	0.98103	.	.	ENSG00000123505	ENST00000368885	.	.	.	5.46	4.36	0.52297	.	0.141719	0.49305	D	0.000153	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	4.0319	0.09713	0.0:0.6752:0.0:0.3248	.	.	.	.	X	50	.	ENSP00000357880:S50X	S	+	2	0	AMD1	111315439	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.769000	0.68865	2.721000	0.93114	0.591000	0.81541	TCA	AMD1	-	pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr	ENSG00000123505		0.338	AMD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	AMD1	HGNC	protein_coding	OTTHUMT00000041816.1	-	0.00	50	0	C			111208746	+1	tier1	-	no_errors	ENST00000368885	ensembl	human	known	74_37	nonsense	14.55	47	8	SNP	1.000	G
ANKRD12	23253	genome.wustl.edu	37	18	9279577	9279577	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr18:9279577C>T	ENST00000262126.4	+	12	6178	c.5938C>T	c.(5938-5940)Cgc>Tgc	p.R1980C	ANKRD12_ENST00000400020.3_Missense_Mutation_p.R1957C|ANKRD12_ENST00000383440.2_Missense_Mutation_p.R1957C|snoU13_ENST00000459594.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1980						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGTGAGGGATCGCTTTAATGC	0.289																																																	0													110.0	120.0	116.0					18																	9279577		2203	4299	6502	SO:0001583	missense	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.5938C>T	18.37:g.9279577C>T	ENSP00000262126:p.Arg1980Cys		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R1980C	ENST00000262126.4	37	c.5938	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475201	0.84640	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.79141	-1.22;-1.24	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.89206	0.6649	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.89017	0.3432	10	0.87932	D	0	-6.7275	20.6525	0.99598	0.0:1.0:0.0:0.0	.	1957;1980	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	C	1957;1980	ENSP00000372932:R1957C;ENSP00000262126:R1980C	ENSP00000262126:R1980C	R	+	1	0	ANKRD12	9269577	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.831000	0.55776	2.890000	0.99128	0.585000	0.79938	CGC	ANKRD12	-	NULL	ENSG00000101745		0.289	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	-	0.00	52	0	C	NM_015208		9279577	+1	tier1	-	no_errors	ENST00000262126	ensembl	human	known	74_37	missense	16.84	79	16	SNP	1.000	T
ANKRD12	23253	genome.wustl.edu	37	18	9281049	9281049	+	Silent	SNP	C	C	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr18:9281049C>A	ENST00000262126.4	+	13	6354	c.6114C>A	c.(6112-6114)atC>atA	p.I2038I	ANKRD12_ENST00000400020.3_Silent_p.I2015I|ANKRD12_ENST00000383440.2_Silent_p.I2015I|snoU13_ENST00000459594.1_RNA	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	2038						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						ATAAATCTATCAGCATTTACG	0.418																																																	0													133.0	131.0	132.0					18																	9281049		2203	4300	6503	SO:0001819	synonymous_variant	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.6114C>A	18.37:g.9281049C>A			O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.I2038	ENST00000262126.4	37	c.6114	CCDS11843.1	18																																																																																			ANKRD12	-	NULL	ENSG00000101745		0.418	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	-	0.00	58	0	C	NM_015208		9281049	+1	tier1	-	no_errors	ENST00000262126	ensembl	human	known	74_37	silent	16.67	95	19	SNP	1.000	A
ANKRD17	26057	genome.wustl.edu	37	4	73942757	73942757	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:73942757G>A	ENST00000358602.4	-	33	7768	c.7652C>T	c.(7651-7653)gCt>gTt	p.A2551V	ANKRD17_ENST00000330838.6_Missense_Mutation_p.A2300V|ANKRD17_ENST00000509867.2_Missense_Mutation_p.A2438V	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2551					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGGTCCTCCAGCACCATCAGG	0.448																																																	0													86.0	80.0	82.0					4																	73942757		2203	4300	6503	SO:0001583	missense	0			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.7652C>T	4.37:g.73942757G>A	ENSP00000351416:p.Ala2551Val		E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.A2551V	ENST00000358602.4	37	c.7652	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093165	0.76756	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867	T;T;T	0.68025	-0.3;-0.25;-0.26	5.57	5.57	0.84162	.	0.310182	0.27473	N	0.019202	T	0.57621	0.2066	N	0.22421	0.69	0.38588	D	0.950356	B;B;B;B	0.26809	0.16;0.16;0.099;0.041	B;B;B;B	0.24701	0.055;0.055;0.025;0.015	T	0.59894	-0.7368	10	0.72032	D	0.01	.	19.5498	0.95312	0.0:0.0:1.0:0.0	.	2550;2300;2551;2438	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	V	2551;1958;2300;2438	ENSP00000351416:A2551V;ENSP00000332265:A2300V;ENSP00000427151:A2438V	ENSP00000332265:A2300V	A	-	2	0	ANKRD17	74161621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.509000	0.73725	2.623000	0.88846	0.563000	0.77884	GCT	ANKRD17	-	NULL	ENSG00000132466		0.448	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	-	0.00	32	0	G	NM_032217		73942757	-1	tier1	-	no_errors	ENST00000358602	ensembl	human	known	74_37	missense	16.33	41	8	SNP	1.000	A
ANKRD52	283373	genome.wustl.edu	37	12	56638565	56638565	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:56638565C>T	ENST00000267116.7	-	24	2714	c.2593G>A	c.(2593-2595)Gct>Act	p.A865T	ANKRD52_ENST00000548241.1_5'Flank	NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	865										endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GCGAAGGCAGCGGCGTGAAGG	0.582																																																	0													60.0	61.0	61.0					12																	56638565		2103	4232	6335	SO:0001583	missense	0			AK091555	CCDS44920.1	12q13.3	2013-01-10			ENSG00000139645	ENSG00000139645		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	26614	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit C"""						Standard	NM_173595		Approved	FLJ34236, PP6-ARS-C	uc001skm.4	Q8NB46	OTTHUMG00000170329	ENST00000267116.7:c.2593G>A	12.37:g.56638565C>T	ENSP00000267116:p.Ala865Thr		A6NE79|B1Q2K2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A865T	ENST00000267116.7	37	c.2593	CCDS44920.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.226030	0.95173	.	.	ENSG00000139645	ENST00000267116;ENST00000417002	T	0.81163	-1.46	4.53	4.53	0.55603	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.91264	0.7246	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.92745	0.6211	9	.	.	.	.	16.5704	0.84611	0.0:1.0:0.0:0.0	.	865	Q8NB46	ANR52_HUMAN	T	865	ENSP00000267116:A865T	.	A	-	1	0	ANKRD52	54924832	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.629000	0.83207	2.527000	0.85204	0.655000	0.94253	GCT	ANKRD52	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000139645		0.582	ANKRD52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD52	HGNC	protein_coding	OTTHUMT00000408539.1		0.00	23	0	C	NM_173595		56638565	-1			no_errors	ENST00000267116	ensembl	human	known	74_37	missense	8.33	22	2	SNP	1.000	T
ANO8	57719	genome.wustl.edu	37	19	17441288	17441288	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:17441288G>A	ENST00000159087.4	-	9	1177	c.1019C>T	c.(1018-1020)aCg>aTg	p.T340M		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	340					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						CTCGGCCCGCGTGATGGGGCT	0.647																																																	0													27.0	26.0	26.0					19																	17441288		2178	4275	6453	SO:0001583	missense	0			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.1019C>T	19.37:g.17441288G>A	ENSP00000159087:p.Thr340Met		A6NIJ0	Missense_Mutation	SNP	pfam_Anoctamin	p.T340M	ENST00000159087.4	37	c.1019	CCDS32949.1	19	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613080	0.66672	.	.	ENSG00000074855	ENST00000159087	T	0.70282	-0.47	4.99	4.99	0.66335	.	0.238170	0.40728	N	0.001023	D	0.87144	0.6104	M	0.91920	3.255	0.47698	D	0.999494	D	0.89917	1.0	D	0.97110	1.0	D	0.90175	0.4238	10	0.87932	D	0	.	15.7257	0.77756	0.0:0.0:1.0:0.0	.	340	Q9HCE9	ANO8_HUMAN	M	340	ENSP00000159087:T340M	ENSP00000159087:T340M	T	-	2	0	ANO8	17302288	1.000000	0.71417	0.720000	0.30636	0.012000	0.07955	7.405000	0.80007	2.307000	0.77673	0.491000	0.48974	ACG	ANO8	-	pfam_Anoctamin	ENSG00000074855		0.647	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1	-	0.00	25	0	G	XM_050644		17441288	-1	tier1	-	no_errors	ENST00000159087	ensembl	human	known	74_37	missense	17.65	42	9	SNP	0.999	A
ARCN1	372	genome.wustl.edu	37	11	118463457	118463457	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:118463457G>A	ENST00000264028.4	+	7	1113	c.1018G>A	c.(1018-1020)Gca>Aca	p.A340T	ARCN1_ENST00000359415.4_Missense_Mutation_p.A381T|RNU6-1157P_ENST00000384456.1_RNA|ARCN1_ENST00000392859.3_Missense_Mutation_p.A252T|ARCN1_ENST00000534182.2_Intron	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	340	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACTTTTCACTGCAGAGTCTCT	0.438																																																	0													151.0	159.0	156.0					11																	118463457		2200	4295	6495	SO:0001583	missense	0			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.1018G>A	11.37:g.118463457G>A	ENSP00000264028:p.Ala340Thr		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C	p.A340T	ENST00000264028.4	37	c.1018	CCDS8400.1	11	.	.	.	.	.	.	.	.	.	.	G	11.03	1.519257	0.27211	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.18810	2.19;2.19;2.19	5.53	2.24	0.28232	Clathrin adaptor, mu subunit, C-terminal (3);	0.279401	0.40640	N	0.001042	T	0.13756	0.0333	L	0.38531	1.155	0.43480	D	0.995703	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.001;0.002;0.002	T	0.10613	-1.0622	10	0.33141	T	0.24	-20.3478	5.5382	0.17023	0.1515:0.0:0.4651:0.3834	.	252;381;340	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	T	252;381;340	ENSP00000376599:A252T;ENSP00000352385:A381T;ENSP00000264028:A340T	ENSP00000264028:A340T	A	+	1	0	ARCN1	117968667	0.131000	0.22433	1.000000	0.80357	0.995000	0.86356	0.423000	0.21313	0.245000	0.21373	0.655000	0.94253	GCA	ARCN1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	ENSG00000095139		0.438	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARCN1	HGNC	protein_coding	OTTHUMT00000389278.1		0.00	25	0	G			118463457	+1			no_errors	ENST00000264028	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.971	A
ARHGAP30	257106	genome.wustl.edu	37	1	161022154	161022154	+	Splice_Site	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:161022154C>T	ENST00000368013.3	-	9	1261		c.e9-1		ARHGAP30_ENST00000368016.3_Splice_Site|ARHGAP30_ENST00000368015.1_Splice_Site	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30						regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GATTTATCCTCTGTAAGACAG	0.582																																																	0													194.0	173.0	180.0					1																	161022154		2203	4300	6503	SO:0001630	splice_region_variant	0			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.941-1G>A	1.37:g.161022154C>T			Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Splice_Site	SNP	-	e9-1	ENST00000368013.3	37	c.941-1	CCDS30918.1	1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664417	0.67700	.	.	ENSG00000186517	ENST00000368016;ENST00000368013;ENST00000368017;ENST00000368015	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1306	0.36843	0.0:0.8982:0.0:0.1018	.	.	.	.	.	-1	.	.	.	-	.	.	ARHGAP30	159288778	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.365000	0.52335	2.309000	0.77851	0.555000	0.69702	.	ARHGAP30	-	-	ENSG00000186517		0.582	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	-	0.00	22	0	C	NM_181720	Intron	161022154	-1	tier1	-	no_errors	ENST00000368013	ensembl	human	known	74_37	splice_site	17.07	34	7	SNP	1.000	T
ARHGAP39	80728	genome.wustl.edu	37	8	145772875	145772875	+	Frame_Shift_Del	DEL	C	C	-			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr8:145772875delC	ENST00000276826.5	-	4	1796	c.1595delG	c.(1594-1596)agcfs	p.S532fs	ARHGAP39_ENST00000540274.1_Frame_Shift_Del_p.S532fs|ARHGAP39_ENST00000528810.1_5'Flank|ARHGAP39_ENST00000377307.2_Frame_Shift_Del_p.S532fs			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	532					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGGGGCGAGGCTGGTCCCGCA	0.751																																																	0													4.0	5.0	5.0					8																	145772875		1895	3868	5763	SO:0001589	frameshift_variant	0				CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.1595delG	8.37:g.145772875delC	ENSP00000276826:p.Ser532fs		B4E1I1	Frame_Shift_Del	DEL	pfam_RhoGAP_dom,pfam_MyTH4_dom,superfamily_Rho_GTPase_activation_prot,superfamily_WW_dom,smart_WW_dom,smart_MyTH4_dom,smart_RhoGAP_dom,pfscan_MyTH4_dom,pfscan_WW_dom,pfscan_RhoGAP_dom	p.S532fs	ENST00000276826.5	37	c.1595		8																																																																																			ARHGAP39	-	NULL	ENSG00000147799		0.751	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	ARHGAP39	HGNC	protein_coding	OTTHUMT00000382509.1		0.00	28	0	C			145772875	-1	tier1		no_errors	ENST00000377307	ensembl	human	known	74_37	frame_shift_del	13.89	62	10	DEL	0.004	-
ARR3	407	genome.wustl.edu	37	X	69496298	69496298	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chrX:69496298C>T	ENST00000307959.8	+	7	412	c.361C>T	c.(361-363)Ccc>Tcc	p.P121S	ARR3_ENST00000374495.3_Missense_Mutation_p.P121S	NM_004312.2	NP_004303.2	P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	121					endocytosis (GO:0006897)|regulation of protein phosphorylation (GO:0001932)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						GACCAACCTGCCCTGTTCTGT	0.468																																																	0													106.0	87.0	94.0					X																	69496298		2203	4300	6503	SO:0001583	missense	0				CCDS14399.1	Xq13.1	2013-10-11			ENSG00000120500	ENSG00000120500			710	protein-coding gene	gene with protein product	"""arrestin 4"""	301770				8224247	Standard	NM_004312		Approved	ARRX	uc004dyb.2	P36575	OTTHUMG00000021768	ENST00000307959.8:c.361C>T	X.37:g.69496298C>T	ENSP00000311538:p.Pro121Ser		B5B0B9|Q5JT23|Q5JT24|Q6IBF5|Q96EN2	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin	p.P121S	ENST00000307959.8	37	c.361	CCDS14399.1	X	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208288	0.79240	.	.	ENSG00000120500	ENST00000374495;ENST00000374480;ENST00000480877;ENST00000307959	T;T;T	0.39592	1.07;1.07;1.07	4.32	4.32	0.51571	Arrestin, N-terminal (1);Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.71921	0.3397	M	0.93016	3.37	0.51012	D	0.999906	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80901	-0.1175	10	0.87932	D	0	-1.5609	15.2785	0.73760	0.0:1.0:0.0:0.0	.	121;121	P36575;P36575-2	ARRC_HUMAN;.	S	121;121;70;121	ENSP00000363619:P121S;ENSP00000425505:P70S;ENSP00000311538:P121S	ENSP00000311538:P121S	P	+	1	0	ARR3	69413023	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	6.838000	0.75359	1.872000	0.54250	0.600000	0.82982	CCC	ARR3	-	pfam_Arrestin-like_N,superfamily_Ig_E-set	ENSG00000120500		0.468	ARR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ARR3	HGNC	protein_coding	OTTHUMT00000057055.2		0.00	16	0	C	NM_004312		69496298	+1			no_errors	ENST00000307959	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
ATM	472	genome.wustl.edu	37	11	108213982	108213982	+	Missense_Mutation	SNP	G	G	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:108213982G>C	ENST00000452508.2	+	58	8491	c.8302G>C	c.(8302-8304)Gaa>Caa	p.E2768Q	ATM_ENST00000278616.4_Missense_Mutation_p.E2768Q|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2768	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TGGTGTTCTTGAATGGTGCAC	0.398			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													170.0	156.0	161.0					11																	108213982		2201	4298	6499	SO:0001583	missense	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8302G>C	11.37:g.108213982G>C	ENSP00000388058:p.Glu2768Gln		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2768Q	ENST00000452508.2	37	c.8302	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	32	5.131187	0.94473	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	D;D	0.85013	-1.93;-1.93	5.56	5.56	0.83823	Protein kinase-like domain (1);Armadillo-type fold (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.85588	0.5731	L	0.42686	1.345	0.80722	D	1	P	0.38729	0.644	P	0.44477	0.451	D	0.85552	0.1222	10	0.56958	D	0.05	.	19.8788	0.96888	0.0:0.0:1.0:0.0	.	2768	Q13315	ATM_HUMAN	Q	2768	ENSP00000278616:E2768Q;ENSP00000388058:E2768Q	ENSP00000278616:E2768Q	E	+	1	0	ATM	107719192	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.564000	0.82326	2.779000	0.95612	0.561000	0.74099	GAA	ATM	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000149311		0.398	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	-	0.00	55	0	G	NM_000051		108213982	+1	tier1	-	no_errors	ENST00000278616	ensembl	human	known	74_37	missense	9.68	112	12	SNP	1.000	C
PTCD1	26024	genome.wustl.edu	37	7	99022859	99022859	+	Silent	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:99022859C>T	ENST00000292478.4	-	6	1546	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.K481K|PTCD1_ENST00000555673.1_Silent_p.K481K	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	432					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CGGGAGGTGGCTTCAGGGCCA	0.662																																																	0													92.0	91.0	91.0					7																	99022859		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.1296G>A	7.37:g.99022859C>T			Q3ZB78|Q66K60|Q9UDV2	Silent	SNP	pfam_Pentatricopeptide_repeat,pfam_F1F0-ATPsyn_F_prd,tigrfam_Pentatricopeptide_repeat	p.K481	ENST00000292478.4	37	c.1443	CCDS34691.1	7																																																																																			ATP5J2-PTCD1	-	NULL	ENSG00000248919		0.662	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5J2-PTCD1	HGNC	protein_coding	OTTHUMT00000336391.1	-	0.00	45	0	C	NM_015545		99022859	-1	tier1	-	no_errors	ENST00000413834	ensembl	human	known	74_37	silent	17.50	66	14	SNP	0.000	T
ATP6AP1L	92270	genome.wustl.edu	37	5	81679584	81679585	+	Intron	INS	-	-	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:81679584_81679585insT	ENST00000508366.1	+	7	2002							Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like						ATP hydrolysis coupled proton transport (GO:0015991)	integral component of membrane (GO:0016021)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TTGTCAACTCATTTTTTTTTTC	0.342																																																	0																																										SO:0001627	intron_variant	0			AK022625	CCDS34196.1	5q14.2	2010-03-10				ENSG00000205464			28091	protein-coding gene	gene with protein product							Standard	XR_112744		Approved		uc003khw.3	Q52LC2		ENST00000508366.1:c.2003-629->T	5.37:g.81679594_81679594dupT				RNA	INS	-	NULL	ENST00000508366.1	37	NULL		5																																																																																			ATP6AP1L	-	-	ENSG00000205464		0.342	ATP6AP1L-002	KNOWN	basic	processed_transcript	ATP6AP1L	HGNC	protein_coding	OTTHUMT00000369563.1		0.00	8	0	-	NM_001017971		81679585	+1	tier1		no_errors	ENST00000502523	ensembl	human	putative	74_37	rna	21.43	11	3	INS	0.000:0.002	T
BAI3	577	genome.wustl.edu	37	6	69723965	69723965	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:69723965A>C	ENST00000370598.1	+	12	2786	c.1965A>C	c.(1963-1965)gaA>gaC	p.E655D		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	655					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TTCTAGATGAAGAAAACAAGG	0.284																																																	0													63.0	65.0	64.0					6																	69723965		2203	4300	6503	SO:0001583	missense	0			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1965A>C	6.37:g.69723965A>C	ENSP00000359630:p.Glu655Asp		B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like	p.E655D	ENST00000370598.1	37	c.1965	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	A	20.4	3.987858	0.74589	.	.	ENSG00000135298	ENST00000370598	T	0.10382	2.88	5.76	5.76	0.90799	Domain of unknown function DUF3497 (1);	0.055265	0.64402	D	0.000001	T	0.11965	0.0291	L	0.50333	1.59	0.80722	D	1	D	0.53885	0.963	P	0.51453	0.67	T	0.01319	-1.1386	10	0.46703	T	0.11	.	16.0602	0.80834	1.0:0.0:0.0:0.0	.	655	O60242	BAI3_HUMAN	D	655	ENSP00000359630:E655D	ENSP00000359630:E655D	E	+	3	2	BAI3	69780686	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.148000	0.64857	2.202000	0.70862	0.533000	0.62120	GAA	BAI3	-	pfam_DUF3497	ENSG00000135298		0.284	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	HGNC	protein_coding	OTTHUMT00000041120.1	-	0.00	37	0	A			69723965	+1	tier1	-	no_errors	ENST00000370598	ensembl	human	known	74_37	missense	11.39	70	9	SNP	1.000	C
BAIAP3	8938	genome.wustl.edu	37	16	1391337	1391337	+	Missense_Mutation	SNP	C	C	T	rs537419858		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr16:1391337C>T	ENST00000324385.5	+	8	841	c.683C>T	c.(682-684)tCg>tTg	p.S228L	BAIAP3_ENST00000421665.2_Missense_Mutation_p.S193L|BAIAP3_ENST00000397488.2_Missense_Mutation_p.S210L|BAIAP3_ENST00000562208.1_Missense_Mutation_p.S170L|BAIAP3_ENST00000568887.1_Missense_Mutation_p.S165L|BAIAP3_ENST00000397489.1_Missense_Mutation_p.S210L|BAIAP3_ENST00000426824.3_Missense_Mutation_p.S193L	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	228	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.S228L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CTGCCTGCCTCGGACGCCACG	0.706																																																	1	Substitution - Missense(1)	urinary_tract(1)											26.0	27.0	27.0					16																	1391337		2193	4284	6477	SO:0001583	missense	0			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.683C>T	16.37:g.1391337C>T	ENSP00000324510:p.Ser228Leu		A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.S228L	ENST00000324385.5	37	c.683	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541406	0.45280	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45;1.02	4.72	3.7	0.42460	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.389077	0.23949	N	0.042976	T	0.78509	0.4294	L	0.36672	1.1	0.32828	D	0.503698	D;D;D;D;D	0.65815	0.975;0.995;0.967;0.988;0.994	B;P;P;P;P	0.60886	0.356;0.821;0.686;0.793;0.88	T	0.77832	-0.2441	10	0.29301	T	0.29	-12.1023	5.1603	0.15058	0.2182:0.6752:0.0:0.1066	.	193;245;170;228;210	E7EUB9;B4DGA2;B4DIK3;O94812;A2A2B2	.;.;.;BAIP3_HUMAN;.	L	193;210;228;210;193	ENSP00000407242:S193L;ENSP00000380625:S210L;ENSP00000324510:S228L;ENSP00000380626:S210L;ENSP00000409533:S193L	ENSP00000324510:S228L	S	+	2	0	BAIAP3	1331338	1.000000	0.71417	0.946000	0.38457	0.122000	0.20287	3.587000	0.53957	2.438000	0.82558	0.313000	0.20887	TCG	BAIAP3	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000007516		0.706	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3		0.00	19	0	C			1391337	+1			no_errors	ENST00000324385	ensembl	human	known	74_37	missense	7.14	26	2	SNP	0.981	T
BCL9L	283149	genome.wustl.edu	37	11	118772250	118772250	+	Silent	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:118772250C>T	ENST00000334801.3	-	6	3166	c.2202G>A	c.(2200-2202)gcG>gcA	p.A734A	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	734	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGGAGTGCCCGCCAGGCCCT	0.667																																																	0													79.0	75.0	76.0					11																	118772250		2200	4295	6495	SO:0001819	synonymous_variant	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2202G>A	11.37:g.118772250C>T			A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Silent	SNP	pfam_BCL9_beta-catenin-bd_dom	p.A734	ENST00000334801.3	37	c.2202	CCDS8403.1	11																																																																																			BCL9L	-	NULL	ENSG00000186174		0.667	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	-	0.00	23	0	C	NM_182557		118772250	-1	tier1	-	no_errors	ENST00000334801	ensembl	human	known	74_37	silent	22.22	35	10	SNP	0.002	T
C12orf56	115749	genome.wustl.edu	37	12	64724796	64724796	+	Silent	SNP	G	G	A	rs370367135		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:64724796G>A	ENST00000543942.2	-	3	1058	c.432C>T	c.(430-432)aaC>aaT	p.N144N	C12orf56_ENST00000333722.5_Silent_p.N144N|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	144										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		AGGCAAGGCCGTTCTTTTCTT	0.328																																																	0								A	,	0,3596		0,0,1798	49.0	43.0	45.0		432,432	-0.1	0.9	12		45	3,8075		0,3,4036	no	coding-synonymous,coding-synonymous	C12orf56	NM_001099676.2,NM_001170633.1	,	0,3,5834	AA,AG,GG		0.0371,0.0,0.0257	,	144/463,144/623	64724796	3,11671	1798	4039	5837	SO:0001819	synonymous_variant	0				CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.432C>T	12.37:g.64724796G>A				Silent	SNP	NULL	p.N144	ENST00000543942.2	37	c.432		12																																																																																			C12orf56	-	NULL	ENSG00000185306		0.328	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf56	HGNC	protein_coding	OTTHUMT00000401058.2	-	0.00	32	0	G	NM_001099676		64724796	-1	tier1	-	no_errors	ENST00000333722	ensembl	human	known	74_37	silent	36.92	39	24	SNP	0.948	A
C15orf32	145858	genome.wustl.edu	37	15	93015519	93015519	+	Silent	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr15:93015519G>A	ENST00000333334.2	+	1	636	c.141G>A	c.(139-141)gcG>gcA	p.A47A	RP11-763K15.1_ENST00000554440.1_lincRNA|C15orf32_ENST00000556865.1_Silent_p.A47A	NM_153040.2	NP_694585.1	Q32M92	CO032_HUMAN	chromosome 15 open reading frame 32	47										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			CTTTCTCGGCGAGGCCATGTG	0.527																																																	0													103.0	105.0	105.0					15																	93015519		2198	4298	6496	SO:0001819	synonymous_variant	0				CCDS10373.1, CCDS73784.1	15q26.1	2014-09-10			ENSG00000183643	ENSG00000183643			26549	protein-coding gene	gene with protein product							Standard	NM_153040		Approved	FLJ32831	uc002brc.1	Q32M92	OTTHUMG00000149844	ENST00000333334.2:c.141G>A	15.37:g.93015519G>A			C5HTZ8|Q96M45	Silent	SNP	NULL	p.A47	ENST00000333334.2	37	c.141	CCDS10373.1	15																																																																																			C15orf32	-	NULL	ENSG00000183643		0.527	C15orf32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C15orf32	HGNC	protein_coding	OTTHUMT00000313527.2	-	0.00	34	0	G	NM_153040		93015519	+1	tier1	-	no_errors	ENST00000333334	ensembl	human	known	74_37	silent	23.73	45	14	SNP	0.001	A
C1QTNF6	114904	genome.wustl.edu	37	22	37578336	37578336	+	Silent	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr22:37578336G>A	ENST00000337843.2	-	3	804	c.729C>T	c.(727-729)cgC>cgT	p.R243R	C1QTNF6_ENST00000397110.2_Silent_p.R243R|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000255836.6_Silent_p.R119R|C1QTNF6_ENST00000470655.1_5'UTR	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	224	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein heterotrimerization (GO:0070208)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						GCACCCAGACGCGGTCCCCGT	0.612																																																	0													72.0	60.0	64.0					22																	37578336		2203	4300	6503	SO:0001819	synonymous_variant	0			AF329842	CCDS13943.1	22q13.1	2014-02-21			ENSG00000133466	ENSG00000133466			14343	protein-coding gene	gene with protein product		614910				12975309	Standard	NM_031910		Approved	CTRP6, ZACRP6	uc003aqy.1	Q9BXI9	OTTHUMG00000150538	ENST00000337843.2:c.729C>T	22.37:g.37578336G>A			Q5H9G8|Q6ZRM7	Silent	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.R243	ENST00000337843.2	37	c.729	CCDS13943.1	22																																																																																			C1QTNF6	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000133466		0.612	C1QTNF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF6	HGNC	protein_coding	OTTHUMT00000318807.1	-	0.00	11	0	G	NM_182486		37578336	-1	tier1	-	no_errors	ENST00000337843	ensembl	human	known	74_37	silent	24.24	25	8	SNP	0.996	A
C1orf105	92346	genome.wustl.edu	37	1	172425596	172425596	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:172425596A>C	ENST00000367727.4	+	4	438	c.240A>C	c.(238-240)caA>caC	p.Q80H	C1orf105_ENST00000367726.1_Intron|C1orf105_ENST00000367725.4_Missense_Mutation_p.Q70H	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	80										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						TCAGAAACCAACAGCTGTGCT	0.542																																																	0													129.0	123.0	125.0					1																	172425596		2203	4300	6503	SO:0001583	missense	0			AL035295	CCDS1301.1, CCDS72983.1	1q24.3	2012-06-26			ENSG00000180999	ENSG00000180999			29591	protein-coding gene	gene with protein product						12477932	Standard	NM_139240		Approved		uc001gik.3	O95561	OTTHUMG00000034750	ENST00000367727.4:c.240A>C	1.37:g.172425596A>C	ENSP00000356700:p.Gln80His		Q8IY02	Missense_Mutation	SNP	NULL	p.Q80H	ENST00000367727.4	37	c.240	CCDS1301.1	1	.	.	.	.	.	.	.	.	.	.	A	10.46	1.357047	0.24598	.	.	ENSG00000180999	ENST00000367727;ENST00000488100;ENST00000367725	T;T;T	0.33654	1.4;1.4;1.4	3.4	1.33	0.21861	.	0.573562	0.14498	N	0.315923	T	0.06280	0.0162	N	0.14661	0.345	0.09310	N	1	P	0.43094	0.799	B	0.34931	0.192	T	0.13737	-1.0498	10	0.66056	D	0.02	-1.5248	4.0111	0.09623	0.1277:0.0:0.642:0.2303	.	80	O95561	CA105_HUMAN	H	80;51;70	ENSP00000356700:Q80H;ENSP00000431442:Q51H;ENSP00000356698:Q70H	ENSP00000356698:Q70H	Q	+	3	2	C1orf105	170692219	0.550000	0.26489	0.041000	0.18516	0.048000	0.14542	1.363000	0.34159	0.398000	0.25338	-1.499000	0.00960	CAA	C1orf105	-	NULL	ENSG00000180999		0.542	C1orf105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf105	HGNC	protein_coding	OTTHUMT00000084062.2	-	0.00	42	0	A	NM_139240		172425596	+1	tier1	-	no_errors	ENST00000367727	ensembl	human	known	74_37	missense	14.00	43	7	SNP	0.109	C
C1orf115	79762	genome.wustl.edu	37	1	220863885	220863885	+	Silent	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:220863885G>A	ENST00000294889.5	+	1	699	c.141G>A	c.(139-141)gcG>gcA	p.A47A		NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN	chromosome 1 open reading frame 115	47						integral component of membrane (GO:0016021)				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		AGGCGGAGGCGGCGGCCGAGA	0.796																																																	0													2.0	2.0	2.0					1																	220863885		1363	2591	3954	SO:0001819	synonymous_variant	0			AK024208	CCDS1524.1	1q41	2008-02-05			ENSG00000162817	ENSG00000162817			25873	protein-coding gene	gene with protein product						12477932	Standard	NM_024709		Approved	FLJ14146	uc001hmp.1	Q9H7X2	OTTHUMG00000037361	ENST00000294889.5:c.141G>A	1.37:g.220863885G>A			B3KRN3|D3DTB2	Silent	SNP	NULL	p.A47	ENST00000294889.5	37	c.141	CCDS1524.1	1																																																																																			C1orf115	-	NULL	ENSG00000162817		0.796	C1orf115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf115	HGNC	protein_coding	OTTHUMT00000090922.3	-	0.00	9	0	G	NM_024709		220863885	+1	tier1	-	no_errors	ENST00000294889	ensembl	human	known	74_37	silent	28.57	15	6	SNP	0.000	A
C1orf198	84886	genome.wustl.edu	37	1	230979141	230979141	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:230979141C>T	ENST00000366663.5	-	3	1026	c.886G>A	c.(886-888)Gat>Aat	p.D296N	C1orf198_ENST00000470540.1_Missense_Mutation_p.D258N|C1orf198_ENST00000523410.1_Missense_Mutation_p.D166N|C1orf198_ENST00000427697.2_Missense_Mutation_p.D79N	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	296						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TCTTCCCCATCGTCCTGCCTG	0.612																																																	0													59.0	58.0	59.0					1																	230979141		2201	4290	6491	SO:0001583	missense	0			BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.886G>A	1.37:g.230979141C>T	ENSP00000355623:p.Asp296Asn		A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	NULL	p.D296N	ENST00000366663.5	37	c.886	CCDS1587.1	1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106888	0.77096	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000427697;ENST00000523410	T;T;T;T	0.39056	1.23;1.22;1.12;1.1	4.35	4.35	0.52113	.	0.421367	0.25250	N	0.032023	T	0.35856	0.0946	L	0.29908	0.895	0.09310	N	1	D	0.54047	0.964	B	0.44044	0.439	T	0.30001	-0.9993	10	0.62326	D	0.03	-9.934	15.036	0.71748	0.0:1.0:0.0:0.0	.	296	Q9H425	CA198_HUMAN	N	296;258;79;166	ENSP00000355623:D296N;ENSP00000428172:D258N;ENSP00000411384:D79N;ENSP00000430967:D166N	ENSP00000355623:D296N	D	-	1	0	C1orf198	229045764	0.322000	0.24634	0.022000	0.16811	0.191000	0.23601	3.345000	0.52182	1.967000	0.57214	0.462000	0.41574	GAT	C1orf198	-	NULL	ENSG00000119280		0.612	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf198	HGNC	protein_coding	OTTHUMT00000092236.2	-	0.00	30	0	C	NM_032800		230979141	-1	tier1	-	no_errors	ENST00000366663	ensembl	human	known	74_37	missense	21.92	57	16	SNP	0.132	T
CADM2	253559	genome.wustl.edu	37	3	85008694	85008694	+	5'Flank	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:85008694C>T	ENST00000407528.2	+	0	0				CADM2_ENST00000383699.3_5'UTR|CADM2_ENST00000485126.1_3'UTR	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2						adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CCTGCACTCTCGTGCCCCGCT	0.672																																																	0													72.0	82.0	79.0					3																	85008694		692	1591	2283	SO:0001631	upstream_gene_variant	0			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990		3.37:g.85008694C>T	Exception_encountered		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	RNA	SNP	-	NULL	ENST00000407528.2	37	NULL	CCDS54614.1	3																																																																																			CADM2	-	-	ENSG00000175161		0.672	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	HGNC	protein_coding	OTTHUMT00000352822.1	-	0.00	31	0	C	NM_153184		85008694	+1	tier1	-	no_errors	ENST00000485126	ensembl	human	known	74_37	rna	7.46	62	5	SNP	0.005	T
CARS	833	genome.wustl.edu	37	11	3022339	3022339	+	3'UTR	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:3022339C>T	ENST00000397111.5	-	0	2497				CARS_ENST00000401769.3_3'UTR|CARS_ENST00000470221.2_5'UTR|CARS_ENST00000278224.9_3'UTR|CARS_ENST00000397114.3_3'UTR|CARS_ENST00000380525.4_3'UTR			P49589	SYCC_HUMAN	cysteinyl-tRNA synthetase						cysteinyl-tRNA aminoacylation (GO:0006423)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|cysteine-tRNA ligase activity (GO:0004817)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)		CARS/ALK(5)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)	31		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00317)|LUSC - Lung squamous cell carcinoma(625;0.218)	L-Cysteine(DB00151)	CAGTCCTGTGCCCCCTCACTG	0.512			T	ALK	ALCL																																Ovarian(61;932 1157 5961 20446 52152)			Dom	yes		11	11p15.5	833	cysteinyl-tRNA synthetase		L	0													151.0	137.0	141.0					11																	3022339		2202	4299	6501	SO:0001624	3_prime_UTR_variant	0			AF288207	CCDS7742.1, CCDS41600.1, CCDS41602.1	11p15.5	2011-07-01			ENSG00000110619	ENSG00000110619	6.1.1.16	"""Aminoacyl tRNA synthetases / Class I"""	1493	protein-coding gene	gene with protein product	"""cysteine tRNA ligase 1, cytoplasmic"""	123859				8468064	Standard	NM_139273		Approved	CARS1	uc001lxf.3	P49589	OTTHUMG00000010927	ENST00000397111.5:c.*5G>A	11.37:g.3022339C>T			Q53XI8|Q5HYE4|Q9HD24|Q9HD25	RNA	SNP	-	NULL	ENST00000397111.5	37	NULL	CCDS7742.1	11																																																																																			CARS	-	-	ENSG00000110619		0.512	CARS-001	KNOWN	basic|CCDS	protein_coding	CARS	HGNC	protein_coding	OTTHUMT00000030117.4	-	0.00	45	0	C	NM_001751		3022339	-1	tier1	-	no_errors	ENST00000470221	ensembl	human	known	74_37	rna	7.84	47	4	SNP	0.000	T
CCDC144A	9720	genome.wustl.edu	37	17	16630859	16630859	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:16630859G>T	ENST00000360524.8	+	9	1986	c.1910G>T	c.(1909-1911)aGa>aTa	p.R637I	CCDC144A_ENST00000399273.1_Missense_Mutation_p.R637I|CCDC144A_ENST00000456009.1_Missense_Mutation_p.R357I|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.R637I|CCDC144A_ENST00000443444.2_Missense_Mutation_p.R637I	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	637																	AGCCTACCAAGAATCCAAGAC	0.323																																																	0													2.0	2.0	2.0					17																	16630859		729	1853	2582	SO:0001583	missense	0			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.1910G>T	17.37:g.16630859G>T	ENSP00000353717:p.Arg637Ile		O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.R637I	ENST00000360524.8	37	c.1910	CCDS45621.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	8.391|8.391	0.839761|0.839761	0.16891|0.16891	.|.	.|.	ENSG00000170160|ENSG00000170160	ENST00000328495|ENST00000399273;ENST00000443444;ENST00000448331;ENST00000360524;ENST00000456009;ENST00000360495	.|T;T;T;T;T;T	.|0.22743	.|1.94;1.94;1.94;1.94;1.94;1.94	2.08|2.08	0.928|0.928	0.19443|0.19443	.|.	.|.	.|.	.|.	.|.	.|T	.|0.14270	.|0.0345	L|L	0.29908|0.29908	0.895|0.895	0.23406|0.23406	N|N	0.997749|0.997749	.|B;B	.|0.29085	.|0.232;0.149	.|B;B	.|0.30251	.|0.113;0.076	.|T	.|0.27536	.|-1.0071	.|9	.|0.87932	.|D	.|0	.|.	5.0359|5.0359	0.14434|0.14434	0.8231:0.0:0.1769:0.0|0.8231:0.0:0.1769:0.0	.|.	.|357;637	.|A2RUR9-3;A2RUR9	.|.;C144A_HUMAN	X|I	121|637;637;637;637;357;637	.|ENSP00000382215:R637I;ENSP00000439262:R637I;ENSP00000440655:R637I;ENSP00000353717:R637I;ENSP00000394201:R357I;ENSP00000353685:R637I	.|ENSP00000353685:R637I	E|R	+|+	1|2	0|0	CCDC144A|CCDC144A	16571584|16571584	1.000000|1.000000	0.71417|0.71417	0.013000|0.013000	0.15412|0.15412	0.001000|0.001000	0.01503|0.01503	4.204000|4.204000	0.58460|0.58460	0.083000|0.083000	0.17047|0.17047	-0.515000|-0.515000	0.04445|0.04445	GAA|AGA	CCDC144A	-	NULL	ENSG00000170160		0.323	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	-	0.00	25	0	G			16630859	+1	tier1	-	no_errors	ENST00000360524	ensembl	human	known	74_37	missense	32.26	21	10	SNP	0.696	T
CCDC178	374864	genome.wustl.edu	37	18	30795550	30795550	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr18:30795550T>A	ENST00000383096.3	-	19	2224	c.2042A>T	c.(2041-2043)gAa>gTa	p.E681V	CCDC178_ENST00000406524.2_Missense_Mutation_p.E681V|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.E681V|CCDC178_ENST00000300227.8_Missense_Mutation_p.E643V|CCDC178_ENST00000403303.1_Missense_Mutation_p.E681V|CCDC178_ENST00000583930.1_Missense_Mutation_p.E681V|CCDC178_ENST00000402325.1_Missense_Mutation_p.E681V			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	681																	ACTTTTCTTTTCTTCTTCTTT	0.214																																																	0													21.0	22.0	21.0					18																	30795550		2139	4237	6376	SO:0001583	missense	0			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2042A>T	18.37:g.30795550T>A	ENSP00000372576:p.Glu681Val		A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	NULL	p.E681V	ENST00000383096.3	37	c.2042	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	T	9.350	1.065295	0.20067	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.17854	2.31;2.31;2.32;2.31;2.25	4.14	2.96	0.34315	.	.	.	.	.	T	0.30135	0.0755	L	0.52573	1.65	0.09310	N	1	D;D;D;D;D	0.67145	0.996;0.996;0.996;0.996;0.996	D;D;P;P;P	0.67548	0.952;0.929;0.906;0.906;0.906	T	0.04840	-1.0923	9	0.44086	T	0.13	-15.5468	7.7732	0.29021	0.0:0.0:0.2129:0.7871	.	681;681;681;643;681	F8W7A7;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;CR034_HUMAN	V	681;681;643;681;681	ENSP00000385591:E681V;ENSP00000372576:E681V;ENSP00000300227:E643V;ENSP00000385867:E681V;ENSP00000385234:E681V	ENSP00000300227:E643V	E	-	2	0	C18orf34	29049548	0.395000	0.25254	0.069000	0.20011	0.541000	0.35023	1.039000	0.30266	0.901000	0.36495	0.377000	0.23210	GAA	CCDC178	-	NULL	ENSG00000166960		0.214	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	HGNC	protein_coding	OTTHUMT00000255373.2	-	0.00	74	0	T	NM_198995		30795550	-1	tier1	-	no_errors	ENST00000406524	ensembl	human	known	74_37	missense	18.69	87	20	SNP	0.097	A
CDH12	1010	genome.wustl.edu	37	5	22078696	22078696	+	Silent	SNP	A	A	C	rs147719621		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:22078696A>C	ENST00000382254.1	-	5	1176	c.90T>G	c.(88-90)acT>acG	p.T30T	CDH12_ENST00000522262.1_Silent_p.T30T|CDH12_ENST00000504376.2_Silent_p.T30T	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	30					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CTGTGGCTAAAGTCTGCTGTG	0.463										HNSCC(59;0.17)			A|||	1	0.000199681	0.0008	0.0	5008	,	,		19250	0.0		0.0	False		,,,				2504	0.0																0								A		6,4400	11.4+/-27.6	0,6,2197	205.0	205.0	205.0		90	4.3	1.0	5	dbSNP_134	205	0,8600		0,0,4300	no	coding-synonymous	CDH12	NM_004061.3		0,6,6497	CC,CA,AA		0.0,0.1362,0.0461		30/795	22078696	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.90T>G	5.37:g.22078696A>C			B2RBT1|B7Z2U6|Q86UD2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T30	ENST00000382254.1	37	c.90	CCDS3890.1	5																																																																																			CDH12	-	NULL	ENSG00000154162		0.463	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	-	0.00	55	0	A	NM_004061		22078696	-1	tier1	rs147719621	no_errors	ENST00000382254	ensembl	human	known	74_37	silent	27.27	64	24	SNP	1.000	C
CDH7	1005	genome.wustl.edu	37	18	63548089	63548089	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr18:63548089G>A	ENST00000397968.2	+	12	2743	c.2317G>A	c.(2317-2319)Gcg>Acg	p.A773T	CDH7_ENST00000323011.3_Missense_Mutation_p.A773T	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	773					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A773T(3)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TAAACGACTCGCGGACATGTA	0.408																																																	3	Substitution - Missense(3)	lung(2)|pancreas(1)											63.0	65.0	65.0					18																	63548089		2202	4300	6502	SO:0001583	missense	0			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2317G>A	18.37:g.63548089G>A	ENSP00000381058:p.Ala773Thr		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A773T	ENST00000397968.2	37	c.2317	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	G	24.5	4.541228	0.85917	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	D;D	0.87491	-2.26;-2.26	5.33	5.33	0.75918	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.94909	0.8354	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95398	0.8487	10	0.62326	D	0.03	.	19.0928	0.93235	0.0:0.0:1.0:0.0	.	773	Q9ULB5	CADH7_HUMAN	T	773	ENSP00000319166:A773T;ENSP00000381058:A773T	ENSP00000319166:A773T	A	+	1	0	CDH7	61699069	1.000000	0.71417	0.462000	0.27118	0.964000	0.63967	9.795000	0.99099	2.510000	0.84645	0.650000	0.86243	GCG	CDH7	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000081138		0.408	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	-	0.00	35	0	G	NM_033646		63548089	+1	tier1	-	no_errors	ENST00000323011	ensembl	human	known	74_37	missense	24.53	40	13	SNP	1.000	A
CELSR3	1951	genome.wustl.edu	37	3	48689337	48689337	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:48689337G>T	ENST00000164024.4	-	12	6176	c.5896C>A	c.(5896-5898)Cag>Aag	p.Q1966K	CELSR3_ENST00000544264.1_Missense_Mutation_p.Q1966K	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1966	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAAAAGGTCTGCCAGAGGTCC	0.647																																																	0													66.0	73.0	70.0					3																	48689337		2203	4300	6503	SO:0001583	missense	0			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.5896C>A	3.37:g.48689337G>T	ENSP00000164024:p.Gln1966Lys		O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.Q1966K	ENST00000164024.4	37	c.5896	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884201	0.51908	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	D;D	0.91631	-2.88;-2.88	5.72	5.72	0.89469	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.86522	0.5953	L	0.28400	0.85	0.50171	D	0.999852	B;B	0.30584	0.286;0.255	B;B	0.26517	0.07;0.057	D	0.83760	0.0214	9	0.32370	T	0.25	.	14.7031	0.69168	0.0:0.0:0.8551:0.1449	.	1966;2036	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	K	1966	ENSP00000164024:Q1966K;ENSP00000445694:Q1966K	ENSP00000164024:Q1966K	Q	-	1	0	CELSR3	48664341	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	4.641000	0.61375	2.711000	0.92665	0.655000	0.94253	CAG	CELSR3	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000008300		0.647	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1		0.00	39	0	G	NM_001407		48689337	-1			no_errors	ENST00000544264	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T
CEP350	9857	genome.wustl.edu	37	1	179989371	179989371	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:179989371A>G	ENST00000367607.3	+	12	2880	c.2462A>G	c.(2461-2463)aAa>aGa	p.K821R		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	821					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TATAAGAGTAAACTGGATCGT	0.433																																																	0													129.0	136.0	133.0					1																	179989371		2203	4300	6503	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.2462A>G	1.37:g.179989371A>G	ENSP00000356579:p.Lys821Arg		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.K821R	ENST00000367607.3	37	c.2462	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	A	19.87	3.908194	0.72868	.	.	ENSG00000135837	ENST00000367607	T	0.20332	2.08	6.02	6.02	0.97574	.	0.000000	0.51477	D	0.000081	T	0.36936	0.0985	L	0.36672	1.1	0.49687	D	0.99981	D;D	0.89917	1.0;0.999	D;D	0.77557	0.96;0.99	T	0.03077	-1.1075	9	.	.	.	.	16.2061	0.82131	1.0:0.0:0.0:0.0	.	821;821	E7EU22;Q5VT06	.;CE350_HUMAN	R	821	ENSP00000356579:K821R	.	K	+	2	0	CEP350	178255994	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	6.735000	0.74806	2.311000	0.77944	0.533000	0.62120	AAA	CEP350	-	NULL	ENSG00000135837		0.433	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	-	0.00	16	0	A	NM_014810		179989371	+1	tier1	-	no_errors	ENST00000367607	ensembl	human	known	74_37	missense	24.24	25	8	SNP	1.000	G
CEP170	9859	genome.wustl.edu	37	1	243290001	243290001	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:243290001G>T	ENST00000366542.1	-	20	4556	c.4505C>A	c.(4504-4506)gCt>gAt	p.A1502D	CEP170_ENST00000366543.1_Missense_Mutation_p.A1378D|CEP170_ENST00000490813.1_Missense_Mutation_p.A211D|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000366544.1_Missense_Mutation_p.A1404D|CEP170_ENST00000481987.1_Missense_Mutation_p.A238D	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1502	Targeting to centrosomes.|Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GTTGTTCAGAGCCTCCAAAGT	0.448																																																	0													6.0	6.0	6.0					1																	243290001		1769	3994	5763	SO:0001583	missense	0			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.4505C>A	1.37:g.243290001G>T	ENSP00000355500:p.Ala1502Asp		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.A1502D	ENST00000366542.1	37	c.4505	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.1|22.1	4.245776|4.245776	0.80024|0.80024	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000481987;ENST00000532008;ENST00000490813|ENST00000336415	T;T;T|.	0.52295|.	0.69;0.67;0.71|.	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66167|0.66167	0.2762|0.2762	L|L	0.43923|0.43923	1.385|1.385	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D|.	0.89917|.	0.999;1.0;0.998;0.999|.	D;D;D;D|.	0.87578|.	0.998;0.996;0.991;0.997|.	T|T	0.63703|0.63703	-0.6577|-0.6577	10|5	0.72032|.	D|.	0.01|.	-15.8481|-15.8481	16.9704|16.9704	0.86297|0.86297	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1475;1404;1378;1502|.	B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;.;CE170_HUMAN|.	D|I	1502;1404;1378;238;437;211|1476	ENSP00000355500:A1502D;ENSP00000355502:A1404D;ENSP00000355501:A1378D|.	ENSP00000355500:A1502D|.	A|L	-|-	2|1	0|0	CEP170|CEP170	241356624|241356624	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	7.510000|7.510000	0.81708|0.81708	2.322000|2.322000	0.78497|0.78497	0.455000|0.455000	0.32223|0.32223	GCT|CTC	CEP170	-	NULL	ENSG00000143702		0.448	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	-	0.00	45	0	G	NM_014812		243290001	-1	tier1	-	no_errors	ENST00000366542	ensembl	human	known	74_37	missense	19.70	53	13	SNP	1.000	T
CHPF	79586	genome.wustl.edu	37	2	220406468	220406468	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:220406468C>T	ENST00000243776.6	-	2	1006	c.758G>A	c.(757-759)cGc>cAc	p.R253H	TMEM198_ENST00000373883.3_5'Flank|CHPF_ENST00000373891.2_Missense_Mutation_p.R253H|TMEM198_ENST00000344458.2_5'Flank|CHPF_ENST00000535926.1_Missense_Mutation_p.R91H	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	253					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CAGCAGCATGCGCGACAGCAG	0.692											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													16.0	17.0	17.0					2																	220406468		2200	4295	6495	SO:0001583	missense	0			BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.758G>A	2.37:g.220406468C>T	ENSP00000243776:p.Arg253His	2266	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.R253H	ENST00000243776.6	37	c.758	CCDS2443.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.331520	0.95733	.	.	ENSG00000123989	ENST00000243776;ENST00000535926;ENST00000373891	T;T	0.18657	2.2;2.38	4.39	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.48003	0.1476	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.52245	-0.8601	10	0.62326	D	0.03	-22.9791	17.5119	0.87762	0.0:1.0:0.0:0.0	.	253;253	F8W6H2;Q8IZ52	.;CHSS2_HUMAN	H	253;91;253	ENSP00000243776:R253H;ENSP00000445571:R91H	ENSP00000243776:R253H	R	-	2	0	CHPF	220114712	1.000000	0.71417	0.844000	0.33320	0.859000	0.49053	5.921000	0.70028	2.457000	0.83068	0.549000	0.68633	CGC	CHPF	-	NULL	ENSG00000123989		0.692	CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHPF	HGNC	protein_coding	OTTHUMT00000130268.1	-	0.00	16	0	C	NM_024536		220406468	-1	tier1	-	no_errors	ENST00000243776	ensembl	human	known	74_37	missense	26.09	17	6	SNP	1.000	T
CLGN	1047	genome.wustl.edu	37	4	141317266	141317266	+	Silent	SNP	A	A	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:141317266A>G	ENST00000325617.5	-	9	1418	c.978T>C	c.(976-978)aaT>aaC	p.N326N	CLGN_ENST00000537281.1_Silent_p.N326N|CLGN_ENST00000414773.1_Silent_p.N326N	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	326	Interaction with PPIB. {ECO:0000250}.				binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					GTTTTTCAGCATTAGGATCAG	0.368																																																	0													195.0	188.0	190.0					4																	141317266		2203	4300	6503	SO:0001819	synonymous_variant	0			D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.978T>C	4.37:g.141317266A>G			B3KS90|B4DXV8|D3DNY8	Silent	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex	p.N326	ENST00000325617.5	37	c.978	CCDS3751.1	4																																																																																			CLGN	-	pfam_Calret/calnex,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex	ENSG00000153132		0.368	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLGN	HGNC	protein_coding	OTTHUMT00000257272.2	-	0.00	71	0	A	NM_004362		141317266	-1	tier1	-	no_errors	ENST00000325617	ensembl	human	known	74_37	silent	20.18	87	22	SNP	0.011	G
CNTNAP2	26047	genome.wustl.edu	37	7	147926793	147926793	+	Silent	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:147926793C>T	ENST00000361727.3	+	20	3819	c.3303C>T	c.(3301-3303)gaC>gaT	p.D1101D	CNTNAP2_ENST00000538075.1_Silent_p.D160D	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1101	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.D1101D(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACAATATTGACGTAGACCACA	0.433										HNSCC(39;0.1)																																							1	Substitution - coding silent(1)	lung(1)											121.0	110.0	114.0					7																	147926793		2203	4300	6503	SO:0001819	synonymous_variant	0			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3303C>T	7.37:g.147926793C>T			D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.D1101	ENST00000361727.3	37	c.3303	CCDS5889.1	7																																																																																			CNTNAP2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000174469		0.433	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP2	HGNC	protein_coding	OTTHUMT00000327668.1		0.00	26	0	C			147926793	+1			no_errors	ENST00000361727	ensembl	human	known	74_37	silent	8.82	31	3	SNP	0.016	T
COL20A1	57642	genome.wustl.edu	37	20	61951542	61951542	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr20:61951542C>T	ENST00000358894.6	+	24	3168	c.3068C>T	c.(3067-3069)tCg>tTg	p.S1023L	COL20A1_ENST00000422202.1_Missense_Mutation_p.S1030L|COL20A1_ENST00000326996.6_Missense_Mutation_p.S1023L|COL20A1_ENST00000435874.1_Missense_Mutation_p.S1030L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1023	Laminin G-like.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CGGAGCAGTTCGGCCGCGGTG	0.746																																																	0													7.0	9.0	8.0					20																	61951542		1863	4042	5905	SO:0001583	missense	0			BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3068C>T	20.37:g.61951542C>T	ENSP00000351767:p.Ser1023Leu		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.S1023L	ENST00000358894.6	37	c.3068	CCDS46628.1	20	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992665	0.54041	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202;ENST00000415763;ENST00000455906	T;T;T;T;T;D	0.91792	4.27;4.27;4.27;4.27;4.27;-2.91	3.67	3.67	0.42095	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.152719	0.45126	D	0.000391	D	0.95475	0.8530	M	0.82323	2.585	0.42017	D	0.990962	D;D	0.89917	1.0;1.0	D;P	0.68039	0.955;0.903	D	0.95922	0.8931	10	0.66056	D	0.02	.	13.1701	0.59593	0.0:1.0:0.0:0.0	.	1030;1023	Q9P218-2;Q9P218	.;COKA1_HUMAN	L	1023;1023;1030;1030;126;31	ENSP00000351767:S1023L;ENSP00000323077:S1023L;ENSP00000408690:S1030L;ENSP00000414753:S1030L;ENSP00000410799:S126L;ENSP00000406345:S31L	ENSP00000323077:S1023L	S	+	2	0	COL20A1	61421987	0.982000	0.34865	0.836000	0.33094	0.142000	0.21351	3.289000	0.51747	2.002000	0.58637	0.462000	0.41574	TCG	COL20A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	ENSG00000101203		0.746	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2		0.00	14	0	C	NM_020882		61951542	+1			no_errors	ENST00000326996	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.988	T
COL5A2	1290	genome.wustl.edu	37	2	189928716	189928716	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:189928716A>C	ENST00000374866.3	-	26	2034	c.1760T>G	c.(1759-1761)cTt>cGt	p.L587R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	587					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAAAGGTCCAAGTTTTCCTTC	0.328																																																	0													80.0	83.0	82.0					2																	189928716		2203	4300	6503	SO:0001583	missense	0			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1760T>G	2.37:g.189928716A>C	ENSP00000364000:p.Leu587Arg		P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.L587R	ENST00000374866.3	37	c.1760	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	A	13.37	2.216846	0.39201	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.93366	-3.21	5.35	5.35	0.76521	.	0.000000	0.43416	D	0.000574	T	0.81908	0.4922	N	0.02103	-0.685	0.37977	D	0.933474	B;B	0.32653	0.379;0.21	B;B	0.38921	0.12;0.285	T	0.80623	-0.1300	9	.	.	.	.	7.9645	0.30091	0.8474:0.0:0.1526:0.0	.	227;587	Q5PR22;P05997	.;CO5A2_HUMAN	R	587;227	ENSP00000364000:L587R	.	L	-	2	0	COL5A2	189636961	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.338000	0.52128	2.026000	0.59711	0.482000	0.46254	CTT	COL5A2	-	NULL	ENSG00000204262		0.328	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	HGNC	protein_coding	OTTHUMT00000313523.1	-	0.00	72	0	A	NM_000393		189928716	-1	tier1	-	no_errors	ENST00000374866	ensembl	human	known	74_37	missense	17.31	86	18	SNP	1.000	C
COL6A6	131873	genome.wustl.edu	37	3	130368299	130368299	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:130368299G>A	ENST00000358511.6	+	32	5657	c.5626G>A	c.(5626-5628)Gcg>Acg	p.A1876T	COL6A6_ENST00000453409.2_Missense_Mutation_p.A1876T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1876	Nonhelical region.|VWFA 8. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CGGTCAGTCCGCGGATGCCCA	0.577																																																	0													24.0	25.0	25.0					3																	130368299		2051	4173	6224	SO:0001583	missense	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.5626G>A	3.37:g.130368299G>A	ENSP00000351310:p.Ala1876Thr		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.A1876T	ENST00000358511.6	37	c.5626	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	5.356	0.250923	0.10130	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.81908	-1.55;-1.55	5.45	-1.25	0.09405	von Willebrand factor, type A (3);	.	.	.	.	T	0.68632	0.3022	L	0.44542	1.39	0.09310	N	1	B	0.11235	0.004	B	0.13407	0.009	T	0.49082	-0.8976	9	0.12766	T	0.61	.	1.7262	0.02922	0.1942:0.21:0.3996:0.1962	.	1876	A6NMZ7	CO6A6_HUMAN	T	1876	ENSP00000351310:A1876T;ENSP00000399236:A1876T	ENSP00000351310:A1876T	A	+	1	0	COL6A6	131850989	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.060000	0.14342	0.004000	0.14682	-0.502000	0.04539	GCG	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000206384		0.577	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5	-	0.00	15	0	G	NM_001102608		130368299	+1	tier1	-	no_errors	ENST00000358511	ensembl	human	known	74_37	missense	25.81	23	8	SNP	0.000	A
CRIM1	51232	genome.wustl.edu	37	2	36744519	36744519	+	Silent	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:36744519C>T	ENST00000280527.2	+	12	2407	c.2040C>T	c.(2038-2040)caC>caT	p.H680H		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	680	VWFC 4. {ECO:0000255|PROSITE- ProRule:PRU00220}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CCATTTGCCACGCCCCTGGAG	0.498																																																	0													96.0	89.0	91.0					2																	36744519		2203	4300	6503	SO:0001819	synonymous_variant	0			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2040C>T	2.37:g.36744519C>T			Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	pfam_VWF_C,pfam_Antistasin-like,superfamily_Hirudin/antistatin,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.H680	ENST00000280527.2	37	c.2040	CCDS1783.1	2																																																																																			CRIM1	-	smart_VWC_out,smart_VWF_C,pfscan_VWF_C	ENSG00000150938		0.498	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2		0.00	20	0	C	NM_016441		36744519	+1			no_errors	ENST00000280527	ensembl	human	known	74_37	silent	10.20	44	5	SNP	0.459	T
CRX	1406	genome.wustl.edu	37	19	48342943	48342943	+	Missense_Mutation	SNP	G	G	A	rs376982187		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:48342943G>A	ENST00000221996.7	+	4	825	c.619G>A	c.(619-621)Gcc>Acc	p.A207T	CRX_ENST00000539067.1_Missense_Mutation_p.A207T|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	207					circadian rhythm (GO:0007623)|organ morphogenesis (GO:0009887)|positive regulation of photoreceptor cell differentiation (GO:0046534)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|leucine zipper domain binding (GO:0043522)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TTCCCCCTCCGCCTATGGGTC	0.687																																					Pancreas(57;461 1196 22201 40716 47188)												0								G	THR/ALA	0,4406		0,0,2203	78.0	84.0	82.0		619	1.5	0.0	19		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	CRX	NM_000554.4	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	207/300	48342943	1,13005	2203	4300	6503	SO:0001583	missense	0			AF024711	CCDS12706.1	19q13.3	2013-01-08				ENSG00000105392		"""Homeoboxes / PRD class"""	2383	protein-coding gene	gene with protein product	"""orthodenticle homeobox 3"""	602225		CORD2		9390563, 9537410	Standard	NM_000554		Approved	CRD, LCA7, OTX3	uc002phq.4	O43186		ENST00000221996.7:c.619G>A	19.37:g.48342943G>A	ENSP00000221996:p.Ala207Thr		Q0QD45	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Otx_TF_C,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A207T	ENST00000221996.7	37	c.619	CCDS12706.1	19	.	.	.	.	.	.	.	.	.	.	G	13.28	2.191335	0.38707	0.0	1.16E-4	ENSG00000105392	ENST00000221996;ENST00000539067	D;D	0.90069	-2.61;-2.61	3.93	1.55	0.23275	Transcription factor Otx, C-terminal (1);	0.615695	0.15680	N	0.249979	T	0.75803	0.3899	N	0.22421	0.69	0.09310	N	1	P	0.41450	0.75	B	0.34536	0.185	T	0.64651	-0.6357	10	0.14252	T	0.57	-9.5996	9.5279	0.39175	0.0:0.4627:0.5373:0.0	.	207	O43186	CRX_HUMAN	T	207	ENSP00000221996:A207T;ENSP00000445565:A207T	ENSP00000221996:A207T	A	+	1	0	CRX	53034755	0.995000	0.38212	0.004000	0.12327	0.533000	0.34776	3.662000	0.54510	0.834000	0.34852	0.467000	0.42956	GCC	CRX	-	pfam_Otx_TF_C	ENSG00000105392		0.687	CRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRX	HGNC	protein_coding	OTTHUMT00000409812.4	-	0.00	58	0	G	NM_000554		48342943	+1	tier1	-	no_errors	ENST00000221996	ensembl	human	known	74_37	missense	15.38	98	18	SNP	0.024	A
CSNK1D	1453	genome.wustl.edu	37	17	80202455	80202455	+	3'UTR	SNP	C	C	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:80202455C>A	ENST00000314028.6	-	0	1799				CSNK1D_ENST00000392334.2_3'UTR|CSNK1D_ENST00000398519.5_Intron	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta						circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle (GO:0005819)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			TGGGGGGCCGCAGTGCAGCCC	0.592											OREG0024822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001624	3_prime_UTR_variant	0				CCDS11805.1, CCDS11806.1	17q25	2013-01-17				ENSG00000141551			2452	protein-coding gene	gene with protein product		600864				7797465	Standard	NM_001893		Approved	HCKID, CKID, CKIdelta	uc002kej.3	P48730		ENST00000314028.6:c.*202G>T	17.37:g.80202455C>A		1196	A2I2P2|Q96KZ6|Q9BTN5	RNA	SNP	-	NULL	ENST00000314028.6	37	NULL	CCDS11805.1	17																																																																																			CSNK1D	-	-	ENSG00000141551		0.592	CSNK1D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSNK1D	HGNC	protein_coding	OTTHUMT00000442632.1	-	0.00	17	0	C	NM_139062		80202455	-1	tier1	-	no_errors	ENST00000577578	ensembl	human	putative	74_37	rna	25.64	29	10	SNP	0.000	A
CTNNBL1	56259	genome.wustl.edu	37	20	36500361	36500361	+	Silent	SNP	G	G	A	rs146419783		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr20:36500361G>A	ENST00000361383.6	+	16	1755	c.1638G>A	c.(1636-1638)ccG>ccA	p.P546P	CTNNBL1_ENST00000373469.1_Silent_p.P294P|CTNNBL1_ENST00000405275.2_Silent_p.P519P|CTNNBL1_ENST00000373473.1_Silent_p.P359P|CTNNBL1_ENST00000473857.1_3'UTR	NM_030877.3	NP_110517.2	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	546					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|positive regulation of apoptotic process (GO:0043065)|RNA splicing (GO:0008380)|somatic diversification of immunoglobulins (GO:0016445)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				GCCGGAGCCCGGAGTTCCGGG	0.602													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17106	0.0		0.0	False		,,,				2504	0.0				Ovarian(184;582 2038 3273 4106 42608)												0								G		1,4405	2.1+/-5.4	0,1,2202	62.0	62.0	62.0		1638	-11.1	0.1	20	dbSNP_134	62	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	CTNNBL1	NM_030877.3		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		546/564	36500361	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	0			AL023804	CCDS13298.1	20q11.23-q12	2011-06-03	2002-05-27	2002-05-31	ENSG00000132792	ENSG00000132792			15879	protein-coding gene	gene with protein product	"""nuclear associated protein"""	611537	"""chromosome 20 open reading frame 33"""	C20orf33		12659813, 21385873	Standard	NM_030877		Approved	FLJ21108, P14L, P14, NAP, NYD-SP19	uc021wdj.1	Q8WYA6	OTTHUMG00000032428	ENST00000361383.6:c.1638G>A	20.37:g.36500361G>A			B4DE16|Q0VAL9|Q0VAM0|Q53HI8|Q5JWZ2|Q5JWZ3|Q5JWZ7|Q5JWZ8|Q8N454|Q8NCL2|Q8TBD6|Q96KD2|Q9H7A5|Q9NQF9|Q9NTX0|Q9Y3M7	Silent	SNP	pfam_CTNNBL1_N,superfamily_ARM-type_fold	p.P519	ENST00000361383.6	37	c.1557	CCDS13298.1	20																																																																																			CTNNBL1	-	NULL	ENSG00000132792		0.602	CTNNBL1-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	CTNNBL1	HGNC	protein_coding	OTTHUMT00000079125.1	-	0.00	21	0	G	NM_030877		36500361	+1	tier1	rs146419783	no_errors	ENST00000405275	ensembl	human	known	74_37	silent	24.14	22	7	SNP	0.116	A
CTNND1	1500	genome.wustl.edu	37	11	57564430	57564430	+	Frame_Shift_Del	DEL	A	A	-			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:57564430delA	ENST00000399050.4	+	6	1458	c.922delA	c.(922-924)actfs	p.T308fs	CTNND1_ENST00000532844.1_Frame_Shift_Del_p.T254fs|CTNND1_ENST00000529873.1_Frame_Shift_Del_p.T254fs|CTNND1_ENST00000532463.1_Frame_Shift_Del_p.T207fs|CTNND1_ENST00000358694.6_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000428599.2_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000426142.2_Frame_Shift_Del_p.T207fs|CTNND1_ENST00000526938.1_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000524630.1_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000415361.2_Frame_Shift_Del_p.T207fs|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529526.1_Frame_Shift_Del_p.T254fs|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000361796.4_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000360682.6_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000528232.1_Frame_Shift_Del_p.T207fs|CTNND1_ENST00000532245.1_Frame_Shift_Del_p.T207fs|CTNND1_ENST00000534579.1_Frame_Shift_Del_p.T254fs|CTNND1_ENST00000529919.1_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000532649.1_Frame_Shift_Del_p.T254fs|CTNND1_ENST00000530748.1_Frame_Shift_Del_p.T254fs|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000530094.1_Frame_Shift_Del_p.T207fs|CTNND1_ENST00000361332.4_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000529986.1_Frame_Shift_Del_p.T207fs|CTNND1_ENST00000399039.4_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000532787.1_Frame_Shift_Del_p.T207fs|CTNND1_ENST00000361391.6_Frame_Shift_Del_p.T308fs|CTNND1_ENST00000528621.1_Frame_Shift_Del_p.T254fs|CTNND1_ENST00000526357.1_Frame_Shift_Del_p.T254fs	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	308					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGCCCGTCGGACTGGGACACC	0.527																																																	0													72.0	77.0	75.0					11																	57564430		2046	4196	6242	SO:0001589	frameshift_variant	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.922delA	11.37:g.57564430delA	ENSP00000382004:p.Thr308fs		A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Frame_Shift_Del	DEL	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.T308fs	ENST00000399050.4	37	c.922	CCDS44604.1	11																																																																																			CTNND1	-	NULL	ENSG00000198561		0.527	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1		0.00	30	0	A	NM_001331		57564430	+1	tier1		no_errors	ENST00000399050	ensembl	human	known	74_37	frame_shift_del	13.04	60	9	DEL	0.989	-
CUL4A	8451	genome.wustl.edu	37	13	113898809	113898809	+	Silent	SNP	C	C	A	rs376855542		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr13:113898809C>A	ENST00000375440.4	+	12	1398	c.1314C>A	c.(1312-1314)atC>atA	p.I438I	CUL4A_ENST00000375441.3_Silent_p.I338I|CUL4A_ENST00000326335.4_Silent_p.I338I|CUL4A_ENST00000451881.1_Silent_p.I338I	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	438					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AGATCATGATCCTGTTCAGGT	0.483																																																	0													80.0	65.0	70.0					13																	113898809		2203	4300	6503	SO:0001819	synonymous_variant	0			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1314C>A	13.37:g.113898809C>A			A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.I438	ENST00000375440.4	37	c.1314	CCDS41908.1	13																																																																																			CUL4A	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	ENSG00000139842		0.483	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL4A	HGNC	protein_coding	OTTHUMT00000045888.3	-	0.00	33	0	C	NM_003589		113898809	+1	tier1	-	no_errors	ENST00000375440	ensembl	human	known	74_37	silent	13.04	40	6	SNP	0.951	A
CYFIP2	26999	genome.wustl.edu	37	5	156721867	156721867	+	Splice_Site	SNP	A	A	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:156721867A>C	ENST00000347377.6	+	4	714	c.283A>C	c.(283-285)Aag>Cag	p.K95Q	CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000377576.3_Splice_Site_p.K95Q|CYFIP2_ENST00000318218.6_Splice_Site_p.R95R|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000522463.1_Intron	NM_001037332.2	NP_001032409.2			cytoplasmic FMR1 interacting protein 2											breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCCATTCCCAGGTGAGACTG	0.522																																																	0													112.0	119.0	117.0					5																	156721867		2135	4278	6413	SO:0001630	splice_region_variant	0			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000347377.6:c.283+1A>C	5.37:g.156721867A>C				Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.K95Q	ENST00000347377.6	37	c.283		5	.	.	.	.	.	.	.	.	.	.	A	9.216	1.032200	0.19590	.	.	ENSG00000055163	ENST00000347377;ENST00000377576	T;T	0.42900	0.96;0.96	4.94	4.94	0.65067	.	.	.	.	.	T	0.28333	0.0700	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07028	-1.0794	6	0.02654	T	1	-0.5578	14.6003	0.68435	1.0:0.0:0.0:0.0	rs5872508;rs57071507	.	.	.	Q	95	ENSP00000313567:K95Q;ENSP00000366799:K95Q	ENSP00000313567:K95Q	K	+	1	0	CYFIP2	156654445	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.894000	0.75655	1.852000	0.53769	0.460000	0.39030	AAG	CYFIP2	-	pirsf_Cytoplasmic_FMR1-int_sub	ENSG00000055163		0.522	CYFIP2-202	KNOWN	basic|appris_principal	protein_coding	CYFIP2	HGNC	protein_coding			0.00	50	0	A	NM_001037332	Missense_Mutation	156721867	+1			no_errors	ENST00000347377	ensembl	human	known	74_37	missense	7.69	84	7	SNP	1.000	C
CYP21A2	1589	genome.wustl.edu	37	6	32008813	32008813	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:32008813C>T	ENST00000418967.2	+	10	1548	c.1390C>T	c.(1390-1392)Ccc>Tcc	p.P464S	CYP21A2_ENST00000435122.2_Missense_Mutation_p.P434S	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	463					glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	CTCCCTGCAGCCCCTGCCCCA	0.711																																					Melanoma(174;1669 1998 3915 34700 46447)												0													3.0	3.0	3.0					6																	32008813		1142	2190	3332	SO:0001583	missense	0			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.1390C>T	6.37:g.32008813C>T	ENSP00000408860:p.Pro464Ser		A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.P464S	ENST00000418967.2	37	c.1390	CCDS4735.1	6	.	.	.	.	.	.	.	.	.	.	c	18.50	3.636737	0.67130	.	.	ENSG00000231852	ENST00000418967;ENST00000435122	T;T	0.67698	-0.28;-0.28	4.75	4.75	0.60458	.	0.000000	0.48286	D	0.000188	T	0.70833	0.3269	M	0.69823	2.125	0.33896	D	0.637939	D;D	0.76494	0.999;0.999	D;D	0.74674	0.984;0.984	T	0.67457	-0.5666	10	0.18710	T	0.47	.	13.431	0.61055	0.0:1.0:0.0:0.0	.	434;464	Q5ST44;Q16874	.;.	S	464;434	ENSP00000408860:P464S;ENSP00000415043:P434S	ENSP00000408860:P464S	P	+	1	0	CYP21A2	32116792	1.000000	0.71417	0.993000	0.49108	0.963000	0.63663	3.229000	0.51278	2.634000	0.89283	0.651000	0.88453	CCC	CYP21A2	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000231852		0.711	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP21A2	HGNC	protein_coding	OTTHUMT00000268768.2	-	0.00	43	0	C	NM_000500		32008813	+1	tier1	-	no_errors	ENST00000418967	ensembl	human	known	74_37	missense	15.28	61	11	SNP	0.999	T
DAGLB	221955	genome.wustl.edu	37	7	6449537	6449537	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:6449537G>T	ENST00000297056.6	-	15	2119	c.1950C>A	c.(1948-1950)agC>agA	p.S650R	DAGLB_ENST00000436575.1_Missense_Mutation_p.S609R|DAGLB_ENST00000425398.2_Missense_Mutation_p.S521R	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	650					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CGGAGACCACGCTGTCCAAGG	0.597																																																	0													104.0	98.0	100.0					7																	6449537		2203	4300	6503	SO:0001583	missense	0			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.1950C>A	7.37:g.6449537G>T	ENSP00000297056:p.Ser650Arg		A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Missense_Mutation	SNP	pfam_Lipase_3	p.S650R	ENST00000297056.6	37	c.1950	CCDS5350.1	7	.	.	.	.	.	.	.	.	.	.	.	8.364	0.833802	0.16820	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000436575	T;T;T	0.33654	1.4;1.4;1.4	5.65	-5.03	0.02973	.	0.581381	0.19937	N	0.102724	T	0.20333	0.0489	L	0.38838	1.175	0.09310	N	1	B;B;B;B	0.23891	0.093;0.019;0.006;0.033	B;B;B;B	0.18263	0.021;0.005;0.003;0.012	T	0.21415	-1.0246	10	0.19147	T	0.46	-4.5328	9.9876	0.41852	0.6869:0.0:0.2112:0.1019	.	521;464;650;347	B4DQU0;B4DQQ6;Q8NCG7;B3KRA0	.;.;DGLB_HUMAN;.	R	650;521;609	ENSP00000297056:S650R;ENSP00000391171:S521R;ENSP00000404785:S609R	ENSP00000297056:S650R	S	-	3	2	DAGLB	6416062	0.000000	0.05858	0.004000	0.12327	0.392000	0.30506	-1.430000	0.02434	-0.942000	0.03695	-0.355000	0.07637	AGC	DAGLB	-	NULL	ENSG00000164535		0.597	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLB	HGNC	protein_coding	OTTHUMT00000246840.2		0.00	36	0	G	NM_139179		6449537	-1			no_errors	ENST00000297056	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.005	T
DBN1	1627	genome.wustl.edu	37	5	176885030	176885030	+	Intron	SNP	T	T	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:176885030T>A	ENST00000309007.5	-	12	1996				DBN1_ENST00000292385.5_Intron|DBN1_ENST00000393563.4_Intron|DBN1_ENST00000393565.1_Intron|DBN1_ENST00000512501.1_Missense_Mutation_p.D334V	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1						actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCCTCCCATCCCTCCCACC	0.632																																																	0													40.0	45.0	43.0					5																	176885030		2164	4189	6353	SO:0001627	intron_variant	0				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.1776+28A>T	5.37:g.176885030T>A			A8MV58|B2RBG0|Q9UFZ5	Missense_Mutation	SNP	NULL	p.D334V	ENST00000309007.5	37	c.1001	CCDS4420.1	5	.	.	.	.	.	.	.	.	.	.	T	1.319	-0.600001	0.03744	.	.	ENSG00000113758	ENST00000512501	T	0.34072	1.38	4.57	-1.46	0.08800	.	.	.	.	.	T	0.31857	0.0810	.	.	.	0.21652	N	0.999601	.	.	.	.	.	.	T	0.37888	-0.9686	6	0.66056	D	0.02	.	5.446	0.16535	0.0:0.4022:0.1432:0.4546	.	.	.	.	V	334	ENSP00000423208:D334V	ENSP00000423208:D334V	D	-	2	0	DBN1	176817636	0.000000	0.05858	0.030000	0.17652	0.091000	0.18340	-0.408000	0.07169	-0.171000	0.10797	-0.648000	0.03929	GAT	DBN1	-	NULL	ENSG00000113758		0.632	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBN1	HGNC	protein_coding	OTTHUMT00000253429.2	-	0.00	29	0	T	NM_080881		176885030	-1	tier1	-	no_errors	ENST00000512501	ensembl	human	putative	74_37	missense	30.30	46	20	SNP	0.010	A
DCUN1D5	84259	genome.wustl.edu	37	11	102937291	102937291	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:102937291T>G	ENST00000260247.5	-	5	689	c.347A>C	c.(346-348)gAc>gCc	p.D116A	DCUN1D5_ENST00000531543.1_Missense_Mutation_p.D31A	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	116	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		TTCTGTGCAGTCACACCTTAA	0.294																																																	0													54.0	52.0	53.0					11																	102937291		2202	4298	6500	SO:0001583	missense	0				CCDS8325.1	11q22.3	2013-06-10	2013-06-10		ENSG00000137692	ENSG00000137692			28409	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae)"""			15988528	Standard	NM_032299		Approved	MGC2714, FLJ32431	uc001phm.3	Q9BTE7	OTTHUMG00000165822	ENST00000260247.5:c.347A>C	11.37:g.102937291T>G	ENSP00000260247:p.Asp116Ala		Q3ZTT2	Missense_Mutation	SNP	pfam_PONY_dom	p.D116A	ENST00000260247.5	37	c.347	CCDS8325.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.6|22.6	4.308842|4.308842	0.81247|0.81247	.|.	.|.	ENSG00000137692|ENSG00000137692	ENST00000260247;ENST00000531543|ENST00000527260	T|.	0.21543|.	2.0|.	5.74|5.74	5.74|5.74	0.90152|0.90152	Domain of unknown function DUF298 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76449|.	0.3989|.	M|M	0.79123|0.79123	2.44|2.44	0.80722|0.80722	D|D	1|1	D|.	0.56035|.	0.974|.	P|.	0.54100|.	0.742|.	T|.	0.77563|.	-0.2541|.	10|.	0.66056|.	D|.	0.02|.	-14.7553|-14.7553	16.0325|16.0325	0.80588|0.80588	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	116|.	Q9BTE7|.	DCNL5_HUMAN|.	A|C	116;31|87	ENSP00000260247:D116A|.	ENSP00000260247:D116A|.	D|X	-|-	2|3	0|0	DCUN1D5|DCUN1D5	102442501|102442501	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.008000|8.008000	0.88588|0.88588	2.193000|2.193000	0.70182|0.70182	0.455000|0.455000	0.32223|0.32223	GAC|TGA	DCUN1D5	-	NULL	ENSG00000137692		0.294	DCUN1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D5	HGNC	protein_coding	OTTHUMT00000386382.2	-	0.00	25	0	T	NM_032299		102937291	-1	tier1	-	no_errors	ENST00000260247	ensembl	human	known	74_37	missense	20.59	27	7	SNP	1.000	G
DFNB31	25861	genome.wustl.edu	37	9	117166348	117166348	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:117166348G>A	ENST00000362057.3	-	10	2414	c.2246C>T	c.(2245-2247)aCg>aTg	p.T749M	DFNB31_ENST00000265134.6_Missense_Mutation_p.T366M|DFNB31_ENST00000374059.3_Missense_Mutation_p.T398M	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	749					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.T749K(2)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGGGAGAGCGTAGAGGCTGC	0.632																																																	2	Substitution - Missense(2)	lung(2)											34.0	33.0	33.0					9																	117166348		2203	4300	6503	SO:0001583	missense	0			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.2246C>T	9.37:g.117166348G>A	ENSP00000354623:p.Thr749Met		A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.T749M	ENST00000362057.3	37	c.2246	CCDS6806.1	9	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492311	0.64074	.	.	ENSG00000095397	ENST00000265134;ENST00000374059;ENST00000362057	T;T;T	0.09445	3.87;3.85;2.98	4.91	4.91	0.64330	.	0.141461	0.46758	D	0.000275	T	0.32734	0.0839	M	0.71581	2.175	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.74674	0.964;0.935;0.984	T	0.06127	-1.0844	10	0.87932	D	0	-10.836	16.2697	0.82608	0.0:0.0:1.0:0.0	.	748;749;398	B9EGE6;Q9P202;Q9P202-4	.;WHRN_HUMAN;.	M	366;398;749	ENSP00000265134:T366M;ENSP00000363172:T398M;ENSP00000354623:T749M	ENSP00000265134:T366M	T	-	2	0	DFNB31	116206169	1.000000	0.71417	0.999000	0.59377	0.453000	0.32348	8.355000	0.90083	2.286000	0.76751	0.313000	0.20887	ACG	DFNB31	-	NULL	ENSG00000095397		0.632	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2		0.00	20	0	G	NM_015404		117166348	-1			no_errors	ENST00000362057	ensembl	human	known	74_37	missense	11.76	15	2	SNP	1.000	A
DHRS3	9249	genome.wustl.edu	37	1	12639425	12639425	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:12639425T>C	ENST00000376223.2	-	3	738	c.355A>G	c.(355-357)Atc>Gtc	p.I119V	DHRS3_ENST00000482265.1_5'Flank	NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	119					bone morphogenesis (GO:0060349)|cardiac septum morphogenesis (GO:0060411)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|phototransduction, visible light (GO:0007603)|regulation of ossification (GO:0030278)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|photoreceptor outer segment membrane (GO:0042622)	electron carrier activity (GO:0009055)|NADP-retinol dehydrogenase activity (GO:0052650)|nucleotide binding (GO:0000166)|retinol dehydrogenase activity (GO:0004745)			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TTCACCAGGATGGTGATGTCA	0.547																																																	0													98.0	77.0	84.0					1																	12639425		2203	4300	6503	SO:0001583	missense	0			AF061741	CCDS146.1	1p36.1	2011-09-20			ENSG00000162496	ENSG00000162496	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	17693	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 1"""	612830				9705317, 12226107, 19027726	Standard	XM_005263533		Approved	retSDR1, Rsdr1, SDR1, RDH17, SDR16C1	uc001auc.3	O75911	OTTHUMG00000001885	ENST00000376223.2:c.355A>G	1.37:g.12639425T>C	ENSP00000365397:p.Ile119Val		B2R7F3|Q5VUY3|Q6UY38|Q9BUC8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.I119V	ENST00000376223.2	37	c.355	CCDS146.1	1	.	.	.	.	.	.	.	.	.	.	T	17.01	3.279575	0.59758	.	.	ENSG00000162496	ENST00000376223;ENST00000430996	D;D	0.86865	-2.18;-2.18	5.81	5.81	0.92471	NAD(P)-binding domain (1);	0.043464	0.85682	D	0.000000	T	0.80727	0.4678	N	0.25332	0.735	0.54753	D	0.999988	P;B	0.41978	0.767;0.117	B;B	0.38683	0.279;0.106	T	0.80913	-0.1170	10	0.35671	T	0.21	.	16.1699	0.81801	0.0:0.0:0.0:1.0	.	119;119	B2R7F3;O75911	.;DHRS3_HUMAN	V	119;34	ENSP00000365397:I119V;ENSP00000387903:I34V	ENSP00000365397:I119V	I	-	1	0	DHRS3	12562012	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.940000	0.70187	2.217000	0.71921	0.533000	0.62120	ATC	DHRS3	-	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	ENSG00000162496		0.547	DHRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS3	HGNC	protein_coding	OTTHUMT00000005318.1	-	0.00	45	0	T	NM_004753		12639425	-1	tier1	-	no_errors	ENST00000376223	ensembl	human	known	74_37	missense	22.08	60	17	SNP	1.000	C
DLC1	10395	genome.wustl.edu	37	8	12957935	12957935	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr8:12957935G>T	ENST00000276297.4	-	9	2320	c.1911C>A	c.(1909-1911)ttC>ttA	p.F637L	DLC1_ENST00000520226.1_Missense_Mutation_p.F126L|DLC1_ENST00000512044.2_Missense_Mutation_p.F234L|DLC1_ENST00000358919.2_Missense_Mutation_p.F200L	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	637					actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)	p.F637F(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCAGGCTGCCGAAAGAGTCGT	0.597																																																	1	Substitution - coding silent(1)	large_intestine(1)											80.0	79.0	79.0					8																	12957935		2203	4300	6503	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.1911C>A	8.37:g.12957935G>T	ENSP00000276297:p.Phe637Leu		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.F637L	ENST00000276297.4	37	c.1911	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	G	7.952	0.745006	0.15710	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000512044;ENST00000520226	T;T;T;T	0.04551	3.84;3.6;3.6;3.61	4.42	2.58	0.30949	.	0.514561	0.21694	N	0.070532	T	0.03178	0.0093	N	0.20881	0.62	0.80722	D	1	B;B;B	0.19073	0.033;0.0;0.0	B;B;B	0.16289	0.015;0.002;0.002	T	0.48456	-0.9034	10	0.21540	T	0.41	.	6.6483	0.22947	0.1522:0.0:0.7025:0.1453	.	637;234;200	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	L	637;200;234;126	ENSP00000276297:F637L;ENSP00000351797:F200L;ENSP00000422595:F234L;ENSP00000428028:F126L	ENSP00000276297:F637L	F	-	3	2	DLC1	13002306	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.547000	0.36190	0.757000	0.33036	0.655000	0.94253	TTC	DLC1	-	NULL	ENSG00000164741		0.597	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2		0.00	21	0	G	NM_182643, NM_006094		12957935	-1			no_errors	ENST00000276297	ensembl	human	known	74_37	missense	6.06	31	2	SNP	0.992	T
DNM1P47	100216544	genome.wustl.edu	37	15	102303909	102303909	+	RNA	SNP	C	C	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr15:102303909C>G	ENST00000561463.1	+	0	11955									DNM1 pseudogene 47																		AGGAGTTCATCTTCTCAGAGC	0.597																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102303909C>G				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15	.	.	.	.	.	.	.	.	.	.	.	0.601	-0.829114	0.02734	.	.	ENSG00000223778	ENST00000455423	.	.	.	1.4	1.4	0.22301	.	.	.	.	.	T	0.33760	0.0874	.	.	.	.	.	.	.	.	.	.	.	.	T	0.39313	-0.9620	4	0.38643	T	0.18	.	3.8445	0.08928	0.0:0.7661:0.0:0.2339	.	.	.	.	V	6	.	ENSP00000387556:L6V	L	+	1	0	AC107977.1	100121432	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	3.816000	0.55658	1.118000	0.41863	0.089000	0.15464	CTT	DNM1P47	-	-	ENSG00000259660		0.597	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	HGNC	pseudogene	OTTHUMT00000417589.1	-	0.00	16	0	C	NG_009149		102303909	+1	tier1	-	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	39.29	17	11	SNP	1.000	G
DNMBP	23268	genome.wustl.edu	37	10	101716851	101716851	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr10:101716851G>A	ENST00000324109.4	-	4	471	c.380C>T	c.(379-381)tCc>tTc	p.S127F	DNMBP-AS1_ENST00000434409.1_RNA|DNMBP_ENST00000342239.3_Missense_Mutation_p.S127F	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	127					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GCTCTGTGAGGAGAGGCAGAG	0.617																																																	0													26.0	28.0	27.0					10																	101716851		2202	4300	6502	SO:0001583	missense	0			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.380C>T	10.37:g.101716851G>A	ENSP00000315659:p.Ser127Phe		Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.S127F	ENST00000324109.4	37	c.380	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	G	29.3	4.996055	0.93167	.	.	ENSG00000107554	ENST00000342239;ENST00000324109	T;T	0.31247	1.5;1.5	5.46	5.46	0.80206	Src homology-3 domain (1);	0.000000	0.49916	D	0.000129	T	0.45135	0.1327	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	D	0.70227	0.968	T	0.09640	-1.0665	10	0.23891	T	0.37	-20.0146	19.6821	0.95969	0.0:0.0:1.0:0.0	.	127	Q6XZF7	DNMBP_HUMAN	F	127	ENSP00000344914:S127F;ENSP00000315659:S127F	ENSP00000315659:S127F	S	-	2	0	DNMBP	101706841	1.000000	0.71417	0.963000	0.40424	0.983000	0.72400	9.464000	0.97655	2.719000	0.93026	0.555000	0.69702	TCC	DNMBP	-	superfamily_SH3_domain	ENSG00000107554		0.617	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	-	0.00	41	0	G	NM_015221		101716851	-1	tier1	-	no_errors	ENST00000342239	ensembl	human	known	74_37	missense	15.46	82	15	SNP	0.998	A
DOCK3	1795	genome.wustl.edu	37	3	51101942	51101942	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:51101942A>G	ENST00000266037.9	+	6	402	c.379A>G	c.(379-381)Agg>Ggg	p.R127G		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	127					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)		TGACCTGCGAAGGCAGCTACT	0.458																																																	0													97.0	100.0	99.0					3																	51101942		1951	4150	6101	SO:0001583	missense	0			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.379A>G	3.37:g.51101942A>G	ENSP00000266037:p.Arg127Gly		O15017	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.R127G	ENST00000266037.9	37	c.379	CCDS46835.1	3	.	.	.	.	.	.	.	.	.	.	A	19.70	3.876960	0.72180	.	.	ENSG00000088538	ENST00000266037	T	0.57752	0.38	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.72195	0.3430	M	0.76838	2.35	0.54753	D	0.999982	D	0.63880	0.993	D	0.64506	0.926	T	0.74931	-0.3496	10	0.56958	D	0.05	.	16.3275	0.82990	1.0:0.0:0.0:0.0	.	127	Q8IZD9	DOCK3_HUMAN	G	127	ENSP00000266037:R127G	ENSP00000266037:R127G	R	+	1	2	DOCK3	51076982	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.465000	0.45075	2.266000	0.75297	0.528000	0.53228	AGG	DOCK3	-	NULL	ENSG00000088538		0.458	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK3	HGNC	protein_coding	OTTHUMT00000346478.5	-	0.00	37	0	A	NM_004947		51101942	+1	tier1	-	no_errors	ENST00000266037	ensembl	human	known	74_37	missense	21.74	36	10	SNP	1.000	G
DOCK6	57572	genome.wustl.edu	37	19	11333532	11333532	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:11333532A>G	ENST00000294618.7	-	26	3130	c.3119T>C	c.(3118-3120)cTg>cCg	p.L1040P	DOCK6_ENST00000319867.7_Missense_Mutation_p.L379P	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1040					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						TTCCATGCGCAGGGTCAGCAG	0.642																																																	0													29.0	37.0	34.0					19																	11333532		2183	4271	6454	SO:0001583	missense	0				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.3119T>C	19.37:g.11333532A>G	ENSP00000294618:p.Leu1040Pro		A6H8X5|Q7Z7P4|Q9P2F2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N	p.L1040P	ENST00000294618.7	37	c.3119	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	A	22.5	4.295526	0.81025	.	.	ENSG00000130158	ENST00000294618;ENST00000319867	T;T	0.25912	1.77;1.77	4.81	4.81	0.61882	.	0.000000	0.56097	D	0.000035	T	0.52224	0.1721	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.75484	0.971;0.986	T	0.58999	-0.7536	10	0.87932	D	0	-14.7165	13.3291	0.60477	1.0:0.0:0.0:0.0	.	379;1040	C9IZV6;Q96HP0	.;DOCK6_HUMAN	P	1040;379	ENSP00000294618:L1040P;ENSP00000321556:L379P	ENSP00000294618:L1040P	L	-	2	0	DOCK6	11194532	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.763000	0.91715	1.808000	0.52836	0.402000	0.26972	CTG	DOCK6	-	NULL	ENSG00000130158		0.642	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	-	0.00	31	0	A	NM_020812		11333532	-1	tier1	-	no_errors	ENST00000294618	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	G
DPF3	8110	genome.wustl.edu	37	14	73190360	73190360	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:73190360T>G	ENST00000556509.1	-	5	505	c.506A>C	c.(505-507)aAg>aCg	p.K169T	DPF3_ENST00000546183.1_Missense_Mutation_p.K179T|DPF3_ENST00000541685.1_Missense_Mutation_p.K169T|DPF3_ENST00000557704.1_5'UTR	NM_001280542.1	NP_001267471.1	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	169					chromatin modification (GO:0016568)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AGTCCTGTTCTTTCGCTTGGG	0.448																																																	0													254.0	257.0	256.0					14																	73190360		1896	4131	6027	SO:0001583	missense	0			U43919	CCDS45133.1, CCDS61495.1, CCDS61496.1, CCDS61497.1	14q24.2	2014-05-13			ENSG00000205683	ENSG00000205683		"""Zinc fingers, PHD-type"""	17427	protein-coding gene	gene with protein product		601672				11845289, 8812431	Standard	NM_012074		Approved	cer-d4, Cerd4, FLJ14079, BAF45c	uc010ari.1	Q92784		ENST00000556509.1:c.506A>C	14.37:g.73190360T>G	ENSP00000450518:p.Lys169Thr		A8MSI3|B7Z276|F5H575|Q32UJ0|Q6P9E6|Q6ZT41|Q9H7Y5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K224T	ENST00000556509.1	37	c.671		14	.	.	.	.	.	.	.	.	.	.	T	21.6	4.169924	0.78452	.	.	ENSG00000205683	ENST00000540281;ENST00000556509;ENST00000398816;ENST00000541685;ENST00000546183	D;T;T	0.91843	-2.92;-0.35;-0.4	5.07	5.07	0.68467	.	.	.	.	.	D	0.95443	0.8520	M	0.73217	2.22	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.981	D;D;D	0.97110	1.0;0.999;0.932	D	0.95960	0.8961	9	0.87932	D	0	.	14.8682	0.70434	0.0:0.0:0.0:1.0	.	179;169;169	F5H575;Q92784-2;Q92784	.;.;DPF3_HUMAN	T	169;169;168;169;179	ENSP00000450518:K169T;ENSP00000441640:K169T;ENSP00000444662:K179T	ENSP00000381791:K224T	K	-	2	0	DPF3	72260113	1.000000	0.71417	0.951000	0.38953	0.993000	0.82548	4.203000	0.58453	1.918000	0.55548	0.459000	0.35465	AAG	DPF3	-	NULL	ENSG00000205683		0.448	DPF3-004	NOVEL	basic|appris_principal|exp_conf	protein_coding	DPF3	HGNC	protein_coding	OTTHUMT00000413152.2	-	0.00	87	0	T			73190360	-1	tier1	-	no_errors	ENST00000366353	ensembl	human	known	74_37	missense	21.36	81	22	SNP	1.000	G
DSCAM	1826	genome.wustl.edu	37	21	41423941	41423941	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr21:41423941G>A	ENST00000400454.1	-	30	5606	c.5129C>T	c.(5128-5130)tCg>tTg	p.S1710L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1710					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S1710L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGAGACACCGATTGGTAATG	0.532																																					Melanoma(134;970 1778 1785 21664 32388)												1	Substitution - Missense(1)	skin(1)											135.0	137.0	137.0					21																	41423941		1993	4175	6168	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5129C>T	21.37:g.41423941G>A	ENSP00000383303:p.Ser1710Leu		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S1710L	ENST00000400454.1	37	c.5129	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	G	32	5.127141	0.94429	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.61274	0.12;0.2	5.79	5.79	0.91817	.	0.058854	0.64402	D	0.000001	T	0.55986	0.1955	N	0.24115	0.695	0.47094	D	0.999317	D	0.63046	0.992	P	0.49683	0.619	T	0.57533	-0.7795	10	0.49607	T	0.09	.	20.0349	0.97554	0.0:0.0:1.0:0.0	.	1710	O60469	DSCAM_HUMAN	L	1710;1462	ENSP00000383303:S1710L;ENSP00000385342:S1462L	ENSP00000383303:S1710L	S	-	2	0	DSCAM	40345811	1.000000	0.71417	0.033000	0.17914	0.940000	0.58332	9.357000	0.97099	2.744000	0.94065	0.650000	0.86243	TCG	DSCAM	-	NULL	ENSG00000171587		0.532	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	-	0.00	35	0	G	NM_001389		41423941	-1	tier1	-	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	12.70	54	8	SNP	0.992	A
DSCAML1	57453	genome.wustl.edu	37	11	117376192	117376192	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:117376192C>T	ENST00000321322.6	-	9	2220	c.2219G>A	c.(2218-2220)cGg>cAg	p.R740Q	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R470Q	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	680	Ig-like C2-type 8.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGGCGCTCCCGGCTCACGGT	0.602																																																	0													83.0	81.0	82.0					11																	117376192		2201	4296	6497	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2219G>A	11.37:g.117376192C>T	ENSP00000315465:p.Arg740Gln		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R740Q	ENST00000321322.6	37	c.2219	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	C	16.74	3.207184	0.58343	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.66638	-0.22;-0.22	4.91	4.0	0.46444	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.55449	0.1921	L	0.28649	0.875	0.32292	N	0.566107	P	0.37663	0.604	B	0.38655	0.278	T	0.61520	-0.7046	9	0.30078	T	0.28	.	12.8718	0.57968	0.0:0.922:0.0:0.078	.	680	Q8TD84	DSCL1_HUMAN	Q	470;740;447	ENSP00000434335:R470Q;ENSP00000315465:R740Q	ENSP00000315465:R740Q	R	-	2	0	DSCAML1	116881402	0.931000	0.31567	0.982000	0.44146	0.985000	0.73830	2.598000	0.46223	1.285000	0.44548	0.491000	0.48974	CGG	DSCAML1	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000177103		0.602	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	-	0.00	14	0	C	NM_020693		117376192	-1	tier1	-	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.912	T
DSPP	1834	genome.wustl.edu	37	4	88535804	88535804	+	Missense_Mutation	SNP	A	A	G	rs200105658		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:88535804A>G	ENST00000282478.7	+	4	2023	c.1990A>G	c.(1990-1992)Aac>Gac	p.N664D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.N664D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	664	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		caatagcagtaacagcagtga	0.493																																																	0													119.0	135.0	130.0					4																	88535804		1734	3188	4922	SO:0001583	missense	0			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1990A>G	4.37:g.88535804A>G	ENSP00000282478:p.Asn664Asp		A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.N664D	ENST00000282478.7	37	c.1990	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	-	5.219	0.225893	0.09916	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87729	-2.29;-2.29	2.41	2.41	0.29592	.	.	.	.	.	T	0.71384	0.3333	N	0.08118	0	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.55835	-0.8078	9	0.21540	T	0.41	.	7.5618	0.27855	0.1522:0.0:0.8478:0.0	.	664	Q9NZW4	DSPP_HUMAN	D	664	ENSP00000382213:N664D;ENSP00000282478:N664D	ENSP00000282478:N664D	N	+	1	0	DSPP	88754828	0.082000	0.21442	0.771000	0.31576	0.003000	0.03518	1.265000	0.33027	0.299000	0.22661	-1.229000	0.01577	AAC	DSPP	-	NULL	ENSG00000152591		0.493	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	-	0.00	81	0	A	NM_014208		88535804	+1	tier1	rs200105658	no_errors	ENST00000282478	ensembl	human	known	74_37	missense	8.41	98	9	SNP	0.975	G
DSPP	1834	genome.wustl.edu	37	4	88535806	88535806	+	Missense_Mutation	SNP	C	C	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:88535806C>G	ENST00000282478.7	+	4	2025	c.1992C>G	c.(1990-1992)aaC>aaG	p.N664K	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.N664K			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	664	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		atagcagtaacagcagtgata	0.488																																																	0													120.0	137.0	131.0					4																	88535806		1732	3179	4911	SO:0001583	missense	0			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.1992C>G	4.37:g.88535806C>G	ENSP00000282478:p.Asn664Lys		A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.N664K	ENST00000282478.7	37	c.1992	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	-	0.080	-1.185915	0.01620	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.87412	-2.25;-2.25	2.58	0.451	0.16629	.	.	.	.	.	T	0.76154	0.3948	L	0.29908	0.895	0.18873	N	0.999985	B	0.06786	0.001	B	0.01281	0.0	T	0.62982	-0.6738	9	0.56958	D	0.05	.	2.8528	0.05563	0.2172:0.5026:0.0:0.2802	.	664	Q9NZW4	DSPP_HUMAN	K	664	ENSP00000382213:N664K;ENSP00000282478:N664K	ENSP00000282478:N664K	N	+	3	2	DSPP	88754830	0.006000	0.16342	0.741000	0.31004	0.002000	0.02628	-0.740000	0.04861	-0.057000	0.13199	-1.617000	0.00794	AAC	DSPP	-	NULL	ENSG00000152591		0.488	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	-	0.00	81	0	C	NM_014208		88535806	+1	tier1	-	no_errors	ENST00000282478	ensembl	human	known	74_37	missense	8.49	97	9	SNP	0.986	G
DYNC1H1	1778	genome.wustl.edu	37	14	102449489	102449489	+	Silent	SNP	A	A	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:102449489A>G	ENST00000360184.4	+	6	1259	c.1095A>G	c.(1093-1095)agA>agG	p.R365R		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	365	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACATTTGAGAAAGATCCGAA	0.423																																																	0													76.0	75.0	75.0					14																	102449489		2203	4300	6503	SO:0001819	synonymous_variant	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.1095A>G	14.37:g.102449489A>G			B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.R365	ENST00000360184.4	37	c.1095	CCDS9966.1	14																																																																																			DYNC1H1	-	pfam_Dynein_heavy_dom-1	ENSG00000197102		0.423	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	-	0.00	39	0	A	NM_001376		102449489	+1	tier1	-	no_errors	ENST00000360184	ensembl	human	known	74_37	silent	5.71	66	4	SNP	1.000	G
DZIP3	9666	genome.wustl.edu	37	3	108394694	108394694	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:108394694G>T	ENST00000361582.3	+	25	2985	c.2755G>T	c.(2755-2757)Gtt>Ttt	p.V919F	DZIP3_ENST00000463306.1_Missense_Mutation_p.V919F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	919					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGTGGCAGATGTTAGAAACAA	0.368																																																	0													90.0	82.0	85.0					3																	108394694		2203	4300	6503	SO:0001583	missense	0			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2755G>T	3.37:g.108394694G>T	ENSP00000355028:p.Val919Phe		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V919F	ENST00000361582.3	37	c.2755	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913820	0.72983	.	.	ENSG00000198919	ENST00000361582;ENST00000463306	T;T	0.25749	1.78;1.78	4.71	4.71	0.59529	.	0.000000	0.43919	D	0.000517	T	0.46852	0.1414	L	0.61218	1.895	0.38325	D	0.943626	D;D	0.71674	0.998;0.998	D;D	0.78314	0.991;0.986	T	0.52682	-0.8543	10	0.87932	D	0	-15.9483	13.0057	0.58703	0.0:0.0:1.0:0.0	.	537;919	D3DN61;Q86Y13	.;DZIP3_HUMAN	F	919	ENSP00000355028:V919F;ENSP00000419981:V919F	ENSP00000355028:V919F	V	+	1	0	DZIP3	109877384	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.230000	0.58632	2.429000	0.82318	0.491000	0.48974	GTT	DZIP3	-	NULL	ENSG00000198919		0.368	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	-	0.00	47	0	G	NM_014648		108394694	+1	tier1	-	no_errors	ENST00000361582	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
EIF2B5	8893	genome.wustl.edu	37	3	183862446	183862446	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:183862446G>T	ENST00000273783.3	+	15	2179	c.2057G>T	c.(2056-2058)aGc>aTc	p.S686I	EIF2B5_ENST00000444495.1_Missense_Mutation_p.S686I	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	686	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGCTGGTTCAGCCAAAGAGAT	0.527																																																	0													63.0	60.0	61.0					3																	183862446		2203	4300	6503	SO:0001583	missense	0			U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.2057G>T	3.37:g.183862446G>T	ENSP00000273783:p.Ser686Ile		Q541Z1|Q96D04	Missense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,superfamily_Trimer_LpxA-like,smart_W2_domain	p.S686I	ENST00000273783.3	37	c.2057	CCDS3252.1	3	.	.	.	.	.	.	.	.	.	.	g	14.63	2.591603	0.46214	.	.	ENSG00000145191	ENST00000273783;ENST00000444495	D;D	0.81499	-1.5;-1.5	5.77	0.285	0.15705	eIF4-gamma/eIF5/eIF2-epsilon (3);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.566696	0.21013	N	0.081645	T	0.74566	0.3733	M	0.73962	2.25	0.40540	D	0.981018	P;B	0.34955	0.477;0.29	B;B	0.33042	0.157;0.075	T	0.68036	-0.5515	10	0.51188	T	0.08	.	6.2254	0.20706	0.4158:0.2132:0.371:0.0	.	686;686	E9PC74;Q13144	.;EI2BE_HUMAN	I	686	ENSP00000273783:S686I;ENSP00000409142:S686I	ENSP00000273783:S686I	S	+	2	0	EIF2B5	185345140	0.942000	0.31987	0.909000	0.35828	0.991000	0.79684	0.999000	0.29757	0.026000	0.15269	0.561000	0.74099	AGC	EIF2B5	-	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	ENSG00000145191		0.527	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2B5	HGNC	protein_coding	OTTHUMT00000346168.1	-	0.00	36	0	G			183862446	+1	tier1	-	no_errors	ENST00000273783	ensembl	human	known	74_37	missense	6.06	62	4	SNP	0.956	T
EIF4E2	9470	genome.wustl.edu	37	2	233438618	233438618	+	Intron	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:233438618G>A	ENST00000409514.1	+	7	707				EIF4E2_ENST00000409394.1_Intron|EIF4E2_ENST00000409098.1_Intron	NM_001282958.1	NP_001269887.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2						cytokine-mediated signaling pathway (GO:0019221)|in utero embryonic development (GO:0001701)|negative regulation of translation (GO:0017148)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)|ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAAAGTACAGGGAGTGCCAC	0.478																																																	0																																										SO:0001627	intron_variant	0			AF038957	CCDS2496.1, CCDS63158.1, CCDS63159.1, CCDS74671.1	2q37.1	2008-02-05	2006-11-13	2004-10-30	ENSG00000135930	ENSG00000135930			3293	protein-coding gene	gene with protein product		605895	"""eukaryotic translation initiation factor 4E-like 3"""	EIF4EL3		9653160, 9582349	Standard	XM_005246975		Approved	IF4e, 4EHP	uc002vta.3	O60573	OTTHUMG00000133256	ENST00000409514.1:c.666-355G>A	2.37:g.233438618G>A			B8ZZJ9|O75349	RNA	SNP	-	NULL	ENST00000409514.1	37	NULL		2																																																																																			EIF4E2	-	-	ENSG00000135930		0.478	EIF4E2-003	PUTATIVE	basic	protein_coding	EIF4E2	HGNC	protein_coding	OTTHUMT00000330695.1	-	0.00	9	0	G	NM_004846		233438618	+1	tier1	-	no_errors	ENST00000459714	ensembl	human	putative	74_37	rna	23.53	13	4	SNP	0.000	A
ENAM	10117	genome.wustl.edu	37	4	71509221	71509221	+	Nonsense_Mutation	SNP	C	C	G	rs147484294		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:71509221C>G	ENST00000396073.3	+	9	2359	c.2078C>G	c.(2077-2079)tCa>tGa	p.S693*	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	693					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CAATATACCTCAAATCAGCCA	0.413																																																	0													85.0	86.0	85.0					4																	71509221		2203	4300	6503	SO:0001587	stop_gained	0			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2078C>G	4.37:g.71509221C>G	ENSP00000379383:p.Ser693*		Q17RI5|Q9H3D1	Nonsense_Mutation	SNP	NULL	p.S693*	ENST00000396073.3	37	c.2078	CCDS3544.2	4	.	.	.	.	.	.	.	.	.	.	C	37	6.265111	0.97426	.	.	ENSG00000132464	ENST00000396073	.	.	.	6.01	2.2	0.27929	.	0.925423	0.09059	N	0.854586	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-2.3252	4.5172	0.11940	0.1535:0.6023:0.0:0.2441	.	.	.	.	X	693	.	ENSP00000379383:S693X	S	+	2	0	ENAM	71728085	0.002000	0.14202	0.082000	0.20525	0.544000	0.35116	0.206000	0.17375	0.428000	0.26173	0.655000	0.94253	TCA	ENAM	-	NULL	ENSG00000132464		0.413	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3		0.00	47	0	C	NM_031889		71509221	+1			no_errors	ENST00000396073	ensembl	human	known	74_37	nonsense	5.26	53	3	SNP	0.057	G
ENSA	2029	genome.wustl.edu	37	1	150600027	150600027	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:150600027T>A	ENST00000369014.5	-	2	224	c.99A>T	c.(97-99)gaA>gaT	p.E33D	ENSA_ENST00000362052.7_Missense_Mutation_p.E33D|ENSA_ENST00000369016.4_Missense_Mutation_p.E33D|ENSA_ENST00000369009.3_Missense_Mutation_p.E33D|ENSA_ENST00000503241.1_Missense_Mutation_p.E33D|ENSA_ENST00000503345.1_Missense_Mutation_p.E33D|ENSA_ENST00000513281.1_Missense_Mutation_p.E29D|ENSA_ENST00000356527.5_Missense_Mutation_p.E33D|ENSA_ENST00000271690.8_Missense_Mutation_p.E33D|ENSA_ENST00000339643.5_Missense_Mutation_p.E33D|ENSA_ENST00000361532.5_Missense_Mutation_p.E29D|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000361631.5_Missense_Mutation_p.E29D			O43768	ENSA_HUMAN	endosulfine alpha	33					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|regulation of catalytic activity (GO:0050790)|regulation of insulin secretion (GO:0050796)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|transport (GO:0006810)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ion channel inhibitor activity (GO:0008200)|phosphatase inhibitor activity (GO:0019212)|potassium channel inhibitor activity (GO:0019870)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			GCTTTGCCTCTTCAGCTCTCT	0.463																																					Esophageal Squamous(188;763 2078 3002 3411 26027)												0													56.0	54.0	55.0					1																	150600027		2203	4300	6503	SO:0001583	missense	0			X99906	CCDS958.1, CCDS959.1, CCDS960.1, CCDS961.1, CCDS962.1, CCDS963.1, CCDS964.1, CCDS965.1	1q21.3	2010-03-11			ENSG00000143420	ENSG00000143420			3360	protein-coding gene	gene with protein product		603061				9653196	Standard	NM_004436		Approved	MGC4319, MGC8394, MGC78563, ARPP-19e	uc001eve.3	O43768	OTTHUMG00000035004	ENST00000369014.5:c.99A>T	1.37:g.150600027T>A	ENSP00000358010:p.Glu33Asp		A8K1Z9|E9PB69|Q5T5H2|Q68D48|Q6FHW0|Q6IAM4|Q6NUL2|Q6VUC6|Q6VUC7|Q6VUC8|Q6VUC9|Q6VUD0|Q6VUD1|Q9NRZ0	Missense_Mutation	SNP	pfam_Endosulphine	p.E33D	ENST00000369014.5	37	c.99	CCDS958.1	1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.042485	0.75732	.	.	ENSG00000143420	ENST00000369016;ENST00000369014;ENST00000369009;ENST00000361532;ENST00000361631;ENST00000339643;ENST00000271690;ENST00000356527;ENST00000502246;ENST00000513281;ENST00000503345;ENST00000503241;ENST00000362052	T	0.61627	0.09	5.16	3.29	0.37713	.	0.053485	0.64402	D	0.000001	T	0.68320	0.2988	M	0.85373	2.75	0.54753	D	0.999988	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.995;0.995;0.998;0.99;0.999	D;D;P;D;D;D;D	0.83275	0.979;0.996;0.885;0.958;0.972;0.98;0.977	T	0.72554	-0.4258	10	0.72032	D	0.01	.	9.8491	0.41046	0.0:0.8575:0.0:0.1425	.	33;33;33;33;33;29;29	A6NMQ3;O43768-8;E9PB69;O43768;O43768-3;O43768-5;O43768-7	.;.;.;ENSA_HUMAN;.;.;.	D	33;33;33;29;29;33;33;33;33;29;33;33;33	ENSP00000358012:E33D	ENSP00000271690:E33D	E	-	3	2	ENSA	148866651	0.985000	0.35326	1.000000	0.80357	0.993000	0.82548	0.243000	0.18106	0.557000	0.29117	-0.441000	0.05720	GAA	ENSA	-	NULL	ENSG00000143420		0.463	ENSA-001	KNOWN	basic|CCDS	protein_coding	ENSA	HGNC	protein_coding	OTTHUMT00000084720.2	-	0.00	62	0	T	NM_207042		150600027	-1	tier1	-	no_errors	ENST00000369009	ensembl	human	known	74_37	missense	5.19	73	4	SNP	1.000	A
RP11-764K9.1	0	genome.wustl.edu	37	9	68400387	68400387	+	lincRNA	DEL	C	C	-	rs111626719		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:68400387delC	ENST00000417843.2	-	0	1432																											GATCTGGGGTCCTCTGATGAG	0.542																																																	0																																												0																															9.37:g.68400387delC				RNA	DEL	-	NULL	ENST00000417843.2	37	NULL		9																																																																																			RP11-764K9.1	-	-	ENSG00000225411		0.542	RP11-764K9.1-001	KNOWN	basic	lincRNA	ENSG00000225411	Clone_based_vega_gene	lincRNA	OTTHUMT00000129817.2		0.00	13	0	C			68400387	-1	tier1		no_errors	ENST00000417843	ensembl	human	known	74_37	rna	33.33	4	2	DEL	0.103	-
BAG5	9529	genome.wustl.edu	37	14	104028196	104028197	+	Intron	INS	-	-	A	rs75347400|rs562770835|rs34050832|rs397810530	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:104028196_104028197insA	ENST00000445922.2	-	1	219				APOPT1_ENST00000556253.2_5'Flank|RP11-894P9.2_ENST00000556332.1_RNA|APOPT1_ENST00000247618.4_5'Flank|RP11-73M18.2_ENST00000472726.2_5'Flank|APOPT1_ENST00000409074.2_5'Flank|BAG5_ENST00000299204.4_Intron|BAG5_ENST00000337322.4_Intron	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5						negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of protein refolding (GO:0061084)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron death (GO:0070997)|protein folding (GO:0006457)|regulation of inclusion body assembly (GO:0090083)	inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	chaperone binding (GO:0051087)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			TCCACTCTCTCAAAAAAAAACA	0.535													AAAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|deletion	1204	0.240415	0.1104	0.3372	5008	,	,		16878	0.3472		0.2863	False		,,,				2504	0.1902				NSCLC(171;1832 2055 18950 31566 41632)												0																																										SO:0001627	intron_variant	0			AF095195	CCDS9982.1, CCDS41995.1	14q32	2008-08-01				ENSG00000166170			941	protein-coding gene	gene with protein product		603885				9873016, 15603737	Standard	NM_001015048		Approved		uc001ynh.2	Q9UL15		ENST00000445922.2:c.27+239->T	14.37:g.104028205_104028205dupA			O94950|Q86W59	RNA	INS	-	NULL	ENST00000445922.2	37	NULL	CCDS9982.1	14																																																																																			RP11-894P9.2	-	-	ENSG00000258851		0.535	BAG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258851	Clone_based_vega_gene	protein_coding	OTTHUMT00000414990.1		0.00	22	0	-			104028197	+1	tier1		no_errors	ENST00000556332	ensembl	human	known	74_37	rna	9.09	30	3	INS	0.000:0.004	A
ENTPD6	955	genome.wustl.edu	37	20	25198195	25198195	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr20:25198195A>G	ENST00000376652.4	+	9	1019	c.856A>G	c.(856-858)Acc>Gcc	p.T286A	ENTPD6_ENST00000354989.5_Missense_Mutation_p.T269A|ENTPD6_ENST00000360031.2_Missense_Mutation_p.T285A|ENTPD6_ENST00000433259.2_Missense_Mutation_p.T286A|Y_RNA_ENST00000365544.1_RNA			O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	286					response to calcium ion (GO:0051592)|response to magnesium ion (GO:0032026)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	guanosine-5'-triphosphate,3'-diphosphate diphosphatase activity (GO:0008894)|nucleoside-triphosphatase activity (GO:0017111)|uridine-diphosphatase activity (GO:0045134)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						GTTTAACAGGACCTACAAGCT	0.597																																																	0													108.0	99.0	102.0					20																	25198195		2203	4300	6503	SO:0001583	missense	0			AF039916	CCDS13170.1, CCDS46586.1	20p11.21	2010-06-24	2010-06-24		ENSG00000197586	ENSG00000197586			3368	protein-coding gene	gene with protein product		603160	"""interleukin 6 signal transducer-2"""	CD39L2, IL6ST2		9676430	Standard	NM_001247		Approved	NTPDase-6, dJ738P15.3	uc002wuj.2	O75354	OTTHUMG00000032116	ENST00000376652.4:c.856A>G	20.37:g.25198195A>G	ENSP00000365840:p.Thr286Ala		A6NCX6|D3DW49|Q5QPJ2|Q5QPJ5|Q7Z5B5|Q8N3H3|Q8TAS7|Q9UJD1	Missense_Mutation	SNP	pfam_GDA1_CD39_NTPase	p.T286A	ENST00000376652.4	37	c.856	CCDS13170.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.86|18.86	3.712803|3.712803	0.68730|0.68730	.|.	.|.	ENSG00000197586|ENSG00000197586	ENST00000376666|ENST00000354989;ENST00000360031;ENST00000525986;ENST00000376641;ENST00000376652;ENST00000439162;ENST00000417467;ENST00000433259;ENST00000425813	.|T;T;T;T;T;T;T	.|0.10860	.|2.83;2.83;2.83;2.83;2.83;2.83;2.83	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	.|0.044760	.|0.85682	.|D	.|0.000000	T|T	0.29389|0.29389	0.0732|0.0732	M|M	0.76574|0.76574	2.34|2.34	0.58432|0.58432	D|D	0.999992|0.999992	.|P;D;P;P;P;D;P;D;P	.|0.55605	.|0.531;0.972;0.599;0.771;0.877;0.959;0.877;0.957;0.926	.|B;P;B;B;P;P;P;P;P	.|0.58266	.|0.381;0.836;0.444;0.444;0.678;0.749;0.627;0.615;0.615	T|T	0.01367|0.01367	-1.1373|-1.1373	5|10	.|0.54805	.|T	.|0.06	-31.9193|-31.9193	14.8057|14.8057	0.69952|0.69952	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|68;268;286;286;286;269;285;285;286	.|B4DHS2;B4DDM7;B4DNK6;E7EP89;Q5QPI9;O75354-2;D3DW49;Q5QPJ2;O75354	.|.;.;.;.;.;.;.;.;ENTP6_HUMAN	G|A	109|269;285;206;182;286;268;220;286;238	.|ENSP00000347084:T269A;ENSP00000353131:T285A;ENSP00000365840:T286A;ENSP00000408098:T268A;ENSP00000395064:T220A;ENSP00000401895:T286A;ENSP00000390646:T238A	.|ENSP00000347084:T269A	D|T	+|+	2|1	0|0	ENTPD6|ENTPD6	25146195|25146195	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.183000|0.183000	0.23260|0.23260	7.128000|7.128000	0.77217|0.77217	2.180000|2.180000	0.69256|0.69256	0.379000|0.379000	0.24179|0.24179	GAC|ACC	ENTPD6	-	pfam_GDA1_CD39_NTPase	ENSG00000197586		0.597	ENTPD6-020	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENTPD6	HGNC	protein_coding	OTTHUMT00000078414.2	-	0.00	42	0	A			25198195	+1	tier1	-	no_errors	ENST00000376652	ensembl	human	known	74_37	missense	14.60	117	20	SNP	1.000	G
ERBB2	2064	genome.wustl.edu	37	17	37868208	37868208	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:37868208C>T	ENST00000269571.5	+	8	1088	c.929C>T	c.(928-930)tCc>tTc	p.S310F	ERBB2_ENST00000578199.1_Missense_Mutation_p.S280F|ERBB2_ENST00000540147.1_Missense_Mutation_p.S280F|ERBB2_ENST00000541774.1_Missense_Mutation_p.S295F|ERBB2_ENST00000445658.2_Missense_Mutation_p.S34F|ERBB2_ENST00000540042.1_Missense_Mutation_p.S280F|ERBB2_ENST00000406381.2_Missense_Mutation_p.S280F|ERBB2_ENST00000584601.1_Missense_Mutation_p.S280F|ERBB2_ENST00000584450.1_Missense_Mutation_p.S310F			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	310					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.S310F(6)|p.S310Y(1)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GACGTGGGATCCTGCACCCTC	0.582		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	7	Substitution - Missense(7)	lung(4)|urinary_tract(1)|ovary(1)|breast(1)											251.0	204.0	220.0					17																	37868208		2203	4300	6503	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.929C>T	17.37:g.37868208C>T	ENSP00000269571:p.Ser310Phe		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S310F	ENST00000269571.5	37	c.929	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586908	0.46110	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147;ENST00000540042	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	5.83	5.83	0.93111	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	.	.	.	.	T	0.79375	0.4435	M	0.70842	2.15	0.53688	D	0.999977	D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;0.997	D;D;D;D;D	0.79108	0.955;0.988;0.975;0.992;0.92	T	0.79438	-0.1803	9	0.59425	D	0.04	.	18.8848	0.92372	0.0:1.0:0.0:0.0	.	34;280;295;310;310	B4DTR1;F5H1T4;P04626-4;P04626;Q9UK79	.;.;.;ERBB2_HUMAN;.	F	280;295;34;310;280;280	ENSP00000385185:S280F;ENSP00000446466:S295F;ENSP00000404047:S34F;ENSP00000269571:S310F;ENSP00000443562:S280F;ENSP00000446382:S280F	ENSP00000269571:S310F	S	+	2	0	ERBB2	35121734	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	6.178000	0.71968	2.766000	0.95052	0.491000	0.48974	TCC	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt_N_dom	ENSG00000141736		0.582	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	-	0.00	30	0	C			37868208	+1	tier1	-	no_errors	ENST00000269571	ensembl	human	known	74_37	missense	37.74	33	20	SNP	1.000	T
ERBB4	2066	genome.wustl.edu	37	2	212566891	212566891	+	Splice_Site	SNP	A	A	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:212566891A>C	ENST00000342788.4	-	12	1600	c.1290T>G	c.(1288-1290)agT>agG	p.S430R	ERBB4_ENST00000436443.1_Splice_Site_p.S430R|ERBB4_ENST00000402597.1_Splice_Site_p.S430R	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	430					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	AGGACAGGCCACTAAGGAGGG	0.418										TSP Lung(8;0.080)																																							0													90.0	85.0	86.0					2																	212566891		2203	4300	6503	SO:0001630	splice_region_variant	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.1290-1T>G	2.37:g.212566891A>C			B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.S430R	ENST00000342788.4	37	c.1290	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.48|12.48	1.950383|1.950383	0.34377|0.34377	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597|ENST00000260943	T;T;T|.	0.79554|.	-1.28;-1.28;-1.28|.	5.71|5.71	3.37|3.37	0.38596|0.38596	EGF receptor, L domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.40767|0.40767	0.1130|0.1130	N|N	0.20986|0.20986	0.625|0.625	0.58432|0.58432	D|D	0.999998|0.999998	P;B;B;P;P|.	0.44776|.	0.811;0.089;0.201;0.811;0.843|.	P;B;B;P;P|.	0.49192|.	0.467;0.051;0.17;0.467;0.602|.	T|T	0.12967|0.12967	-1.0527|-1.0527	10|5	0.33141|.	T|.	0.24|.	.|.	8.6891|8.6891	0.34256|0.34256	0.7897:0.0:0.2103:0.0|0.7897:0.0:0.2103:0.0	.|.	430;430;289;430;430|.	Q15303-4;Q15303-2;Q53QS8;Q15303-3;Q15303|.	.;.;.;.;ERBB4_HUMAN|.	R|G	430|430	ENSP00000342235:S430R;ENSP00000403204:S430R;ENSP00000385565:S430R|.	ENSP00000342235:S430R|.	S|V	-|-	3|2	2|0	ERBB4|ERBB4	212275136|212275136	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.926000|0.926000	0.56050|0.56050	1.402000|1.402000	0.34600|0.34600	1.003000|1.003000	0.39130|0.39130	0.528000|0.528000	0.53228|0.53228	AGT|GTG	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000178568		0.418	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	-	0.00	28	0	A	NM_001042599	Missense_Mutation	212566891	-1	tier1	-	no_errors	ENST00000342788	ensembl	human	known	74_37	missense	23.33	46	14	SNP	1.000	C
EVC2	132884	genome.wustl.edu	37	4	5620242	5620242	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:5620242A>G	ENST00000344408.5	-	15	2722	c.2669T>C	c.(2668-2670)gTg>gCg	p.V890A	EVC2_ENST00000344938.1_Missense_Mutation_p.V890A|EVC2_ENST00000310917.2_Missense_Mutation_p.V810A	NM_147127.4	NP_667338.3	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	890					smoothened signaling pathway (GO:0007224)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GTCCAGCTTCACGAACTCTGC	0.622																																																	0													52.0	50.0	50.0					4																	5620242		2203	4300	6503	SO:0001583	missense	0			AB083067	CCDS3382.2, CCDS54718.1	4p16.2-p16.1	2008-08-01	2008-08-01		ENSG00000173040	ENSG00000173040			19747	protein-coding gene	gene with protein product		607261				12136126, 12571802	Standard	NM_147127		Approved	LBN	uc003gij.3	Q86UK5	OTTHUMG00000125493	ENST00000344408.5:c.2669T>C	4.37:g.5620242A>G	ENSP00000342144:p.Val890Ala		Q86YT3|Q86YT4|Q8NG49	Missense_Mutation	SNP	pfam_Limbin	p.V890A	ENST00000344408.5	37	c.2669	CCDS3382.2	4	.	.	.	.	.	.	.	.	.	.	A	9.115	1.007588	0.19199	.	.	ENSG00000173040	ENST00000344938;ENST00000310917;ENST00000344408	T;T;T	0.73047	-0.71;-0.7;-0.71	5.36	1.38	0.22167	.	0.601202	0.16108	N	0.229250	T	0.42585	0.1209	N	0.08118	0	0.09310	N	0.999991	B	0.02656	0.0	B	0.01281	0.0	T	0.21449	-1.0245	10	0.12103	T	0.63	-1.1425	6.1335	0.20219	0.5774:0.1509:0.0:0.2717	.	890	Q86UK5	LBN_HUMAN	A	890;810;890	ENSP00000339954:V890A;ENSP00000311683:V810A;ENSP00000342144:V890A	ENSP00000311683:V810A	V	-	2	0	EVC2	5671143	0.998000	0.40836	0.324000	0.25361	0.065000	0.16274	0.954000	0.29175	0.010000	0.14839	0.533000	0.62120	GTG	EVC2	-	NULL	ENSG00000173040		0.622	EVC2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EVC2	HGNC	protein_coding	OTTHUMT00000289822.2	-	0.00	23	0	A	NM_147127		5620242	-1	tier1	-	no_errors	ENST00000344408	ensembl	human	known	74_37	missense	23.21	43	13	SNP	0.966	G
FAM187B	148109	genome.wustl.edu	37	19	35719355	35719355	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:35719355C>T	ENST00000324675.3	-	1	277	c.229G>A	c.(229-231)Gag>Aag	p.E77K		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	77						integral component of membrane (GO:0016021)		p.E77*(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						AGGCTGCCCTCGGGCATTATT	0.507																																																	1	Substitution - Nonsense(1)	lung(1)											57.0	57.0	57.0					19																	35719355		2203	4300	6503	SO:0001583	missense	0			AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.229G>A	19.37:g.35719355C>T	ENSP00000323355:p.Glu77Lys		Q8N7G6	Missense_Mutation	SNP	NULL	p.E77K	ENST00000324675.3	37	c.229	CCDS12448.1	19	.	.	.	.	.	.	.	.	.	.	C	11.70	1.717312	0.30413	.	.	ENSG00000177558	ENST00000324675	T	0.22945	1.93	4.81	1.2	0.21068	Immunoglobulin-like fold (1);	1.691540	0.03265	N	0.183811	T	0.13500	0.0327	N	0.14661	0.345	0.09310	N	1	P	0.48407	0.91	B	0.41571	0.36	T	0.13791	-1.0496	10	0.10377	T	0.69	-0.7822	2.7624	0.05311	0.1819:0.5331:0.1762:0.1089	.	77	Q17R55	F187B_HUMAN	K	77	ENSP00000323355:E77K	ENSP00000323355:E77K	E	-	1	0	FAM187B	40411195	0.000000	0.05858	0.000000	0.03702	0.288000	0.27193	-0.121000	0.10643	0.240000	0.21263	0.655000	0.94253	GAG	FAM187B	-	NULL	ENSG00000177558		0.507	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM187B	HGNC	protein_coding	OTTHUMT00000378854.1	-	0.00	31	0	C	NM_152481		35719355	-1	tier1	-	no_errors	ENST00000324675	ensembl	human	known	74_37	missense	21.28	37	10	SNP	0.000	T
FAM47A	158724	genome.wustl.edu	37	X	34148743	34148743	+	Silent	SNP	A	A	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chrX:34148743A>G	ENST00000346193.3	-	1	1704	c.1653T>C	c.(1651-1653)cgT>cgC	p.R551R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	551										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGACACCCGACGACTCTTGG	0.602																																																	0													51.0	53.0	52.0					X																	34148743		2192	4291	6483	SO:0001819	synonymous_variant	0			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1653T>C	X.37:g.34148743A>G			A8K8I9|Q8TAA0	Silent	SNP	NULL	p.R551	ENST00000346193.3	37	c.1653	CCDS43926.1	X																																																																																			FAM47A	-	NULL	ENSG00000185448		0.602	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	-	0.00	59	0	A	NM_203408		34148743	-1	tier1	-	no_errors	ENST00000346193	ensembl	human	known	74_37	silent	33.75	53	27	SNP	0.001	G
FAM65A	79567	genome.wustl.edu	37	16	67575373	67575373	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr16:67575373G>A	ENST00000379312.3	+	11	975	c.854G>A	c.(853-855)gGc>gAc	p.G285D	CTD-2012K14.3_ENST00000563083.1_RNA|CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.G295D|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000540839.3_Missense_Mutation_p.G301D|FAM65A_ENST00000042381.4_Missense_Mutation_p.G281D|FAM65A_ENST00000422602.2_Missense_Mutation_p.G301D	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	285						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GTGGTTGTGGGCAGTGTCTCC	0.557																																																	0													232.0	207.0	215.0					16																	67575373		2198	4300	6498	SO:0001583	missense	0			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.854G>A	16.37:g.67575373G>A	ENSP00000368614:p.Gly285Asp		B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Missense_Mutation	SNP	superfamily_ARM-type_fold,superfamily_HR1_rho-bd	p.G301D	ENST00000379312.3	37	c.902	CCDS54028.1	16	.	.	.	.	.	.	.	.	.	.	G	29.3	4.991700	0.93106	.	.	ENSG00000039523	ENST00000379312;ENST00000042381;ENST00000422602;ENST00000540839	T;T;T	0.03094	4.05;4.05;4.05	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	M	0.82193	2.58	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.01360	-1.1375	10	0.54805	T	0.06	-22.8089	17.995	0.89181	0.0:0.0:1.0:0.0	.	295;301;285;301	B4DIM2;E9PBS3;Q6ZS17;B4DEQ9	.;.;FA65A_HUMAN;.	D	285;281;301;295	ENSP00000368614:G285D;ENSP00000042381:G281D;ENSP00000400099:G301D	ENSP00000042381:G281D	G	+	2	0	FAM65A	66132874	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.458000	0.97634	2.253000	0.74438	0.561000	0.74099	GGC	FAM65A	-	NULL	ENSG00000039523		0.557	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	HGNC	protein_coding	OTTHUMT00000268866.3	-	0.00	49	0	G	NM_024519		67575373	+1	tier1	-	no_errors	ENST00000422602	ensembl	human	known	74_37	missense	7.55	48	4	SNP	1.000	A
FBXO45	200933	genome.wustl.edu	37	3	196304479	196304479	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:196304479A>C	ENST00000311630.6	+	2	771	c.474A>C	c.(472-474)gaA>gaC	p.E158D	FBXO45_ENST00000440469.1_5'UTR	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	158	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		ATGCATGGGAAGTGTGGTGGG	0.537																																																	0													43.0	43.0	43.0					3																	196304479		1969	4152	6121	SO:0001583	missense	0			AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"""F-boxes /  ""other"""""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.474A>C	3.37:g.196304479A>C	ENSP00000310332:p.Glu158Asp		A6NF90|D3DXB5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_F-box_dom,superfamily_ConA-like_lec_gl_sf,superfamily_F-box_dom,smart_F-box_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_F-box_dom	p.E158D	ENST00000311630.6	37	c.474	CCDS46985.1	3	.	.	.	.	.	.	.	.	.	.	A	15.19	2.760315	0.49468	.	.	ENSG00000174013	ENST00000311630	D	0.85258	-1.96	4.95	-0.0783	0.13715	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.095239	0.64402	D	0.000001	D	0.83681	0.5307	M	0.75150	2.29	0.52501	D	0.999951	B	0.30973	0.302	B	0.37451	0.25	T	0.78079	-0.2344	10	0.46703	T	0.11	-10.5992	9.8426	0.41008	0.615:0.0:0.385:0.0	.	158	P0C2W1	FBSP1_HUMAN	D	158	ENSP00000310332:E158D	ENSP00000310332:E158D	E	+	3	2	FBXO45	197788876	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	1.047000	0.30367	0.051000	0.15978	-1.075000	0.02238	GAA	FBXO45	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000174013		0.537	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO45	HGNC	protein_coding	OTTHUMT00000340687.2	-	0.00	40	0	A			196304479	+1	tier1	-	no_errors	ENST00000311630	ensembl	human	known	74_37	missense	42.86	28	21	SNP	1.000	C
FGF4	2249	genome.wustl.edu	37	11	69589540	69589540	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:69589540C>T	ENST00000168712.1	-	1	631	c.313G>A	c.(313-315)Ggc>Agc	p.G105S	FGF4_ENST00000538040.1_5'UTR|AP001888.1_ENST00000602104.1_5'Flank	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	105					apoptotic process involved in morphogenesis (GO:0060561)|cartilage condensation (GO:0001502)|cell-cell signaling (GO:0007267)|chondroblast differentiation (GO:0060591)|cranial suture morphogenesis (GO:0060363)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)	cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	TGCGCGCCGCCGATGCGGCCG	0.761																																																	0													3.0	4.0	4.0					11																	69589540		1851	3722	5573	SO:0001583	missense	0			M17446	CCDS8194.1	11q13.3	2014-01-30	2008-08-01		ENSG00000075388	ENSG00000075388		"""Endogenous ligands"""	3682	protein-coding gene	gene with protein product	"""human stomach cancer, transforming factor from FGF-related oncogene"", ""kaposi sarcoma oncogene"", ""transforming protein KS3"""	164980	"""heparin secretory transforming protein 1"""	HSTF1		1611909	Standard	NM_002007		Approved	K-FGF, HBGF-4, HST, HST-1, KFGF	uc001opg.1	P08620	OTTHUMG00000167887	ENST00000168712.1:c.313G>A	11.37:g.69589540C>T	ENSP00000168712:p.Gly105Ser		B7U994	Missense_Mutation	SNP	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam	p.G105S	ENST00000168712.1	37	c.313	CCDS8194.1	11	.	.	.	.	.	.	.	.	.	.	C	12.38	1.919873	0.33908	.	.	ENSG00000075388	ENST00000168712	T	0.80566	-1.39	4.59	2.37	0.29283	.	0.936405	0.08836	N	0.886586	T	0.49847	0.1581	N	0.01188	-0.97	0.32244	N	0.572261	B;B	0.28713	0.128;0.22	B;B	0.28784	0.041;0.094	T	0.58370	-0.7648	9	.	.	.	.	3.7899	0.08716	0.2047:0.5529:0.0:0.2424	.	105;105	B7U994;P08620	.;FGF4_HUMAN	S	105	ENSP00000168712:G105S	.	G	-	1	0	FGF4	69298721	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.111000	0.41883	2.106000	0.64143	0.561000	0.74099	GGC	FGF4	-	pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam	ENSG00000075388		0.761	FGF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF4	HGNC	protein_coding	OTTHUMT00000396834.2		0.00	8	0	C	NM_002007		69589540	-1			no_errors	ENST00000168712	ensembl	human	known	74_37	missense	25.00	15	5	SNP	1.000	T
FGFBP1	9982	genome.wustl.edu	37	4	15937951	15937951	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:15937951G>A	ENST00000382333.1	-	3	599	c.305C>T	c.(304-306)tCa>tTa	p.S102L	FGFBP1_ENST00000259988.2_Missense_Mutation_p.S102L	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	102					cell-cell signaling (GO:0007267)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CTTTAGGCATGAGGTTGGATT	0.473																																																	0													114.0	108.0	110.0					4																	15937951		2203	4300	6503	SO:0001583	missense	0			M60047	CCDS3418.1	4p15.32	2008-02-05			ENSG00000137440	ENSG00000137440			19695	protein-coding gene	gene with protein product		607737				11148217, 1885605	Standard	NM_005130		Approved	HBP17, FGFBP	uc003gom.3	Q14512	OTTHUMG00000097745	ENST00000382333.1:c.305C>T	4.37:g.15937951G>A	ENSP00000371770:p.Ser102Leu		A8K5J2	Missense_Mutation	SNP	pfam_FGF1-bd	p.S102L	ENST00000382333.1	37	c.305	CCDS3418.1	4	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825275	0.50739	.	.	ENSG00000137440	ENST00000382333;ENST00000259988	T;T	0.14766	2.48;2.48	5.65	0.445	0.16597	.	1.077030	0.07056	N	0.832950	T	0.19005	0.0456	M	0.63843	1.955	0.09310	N	1	B	0.34181	0.44	B	0.40864	0.342	T	0.36915	-0.9728	10	0.62326	D	0.03	-2.1691	5.5065	0.16856	0.0693:0.1023:0.4431:0.3853	.	102	Q14512	FGFP1_HUMAN	L	102	ENSP00000371770:S102L;ENSP00000259988:S102L	ENSP00000259988:S102L	S	-	2	0	FGFBP1	15547049	0.001000	0.12720	0.000000	0.03702	0.259000	0.26198	0.860000	0.27871	-0.246000	0.09611	-0.195000	0.12781	TCA	FGFBP1	-	pfam_FGF1-bd	ENSG00000137440		0.473	FGFBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFBP1	HGNC	protein_coding	OTTHUMT00000214974.1	-	0.00	40	0	G	NM_005130		15937951	-1	tier1	-	no_errors	ENST00000259988	ensembl	human	known	74_37	missense	19.28	67	16	SNP	0.000	A
FAM21EP	100421577	genome.wustl.edu	37	10	51818911	51818911	+	RNA	SNP	T	T	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr10:51818911T>C	ENST00000456967.1	-	0	1519					NR_038275.1																						gtcatcatcatcaccatcatc	0.507																																																	0																																												0																															10.37:g.51818911T>C				RNA	SNP	-	NULL	ENST00000456967.1	37	NULL		10																																																																																			RP11-324H6.5	-	-	ENSG00000235618		0.507	RP11-324H6.5-002	KNOWN	basic	processed_transcript	FLJ31813	Clone_based_vega_gene	pseudogene	OTTHUMT00000048059.1		0.00	71	0	T			51818911	-1			no_errors	ENST00000456967	ensembl	human	known	74_37	rna	10.43	102	12	SNP	0.091	C
FMN2	56776	genome.wustl.edu	37	1	240370345	240370345	+	Frame_Shift_Del	DEL	C	C	-			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:240370345delC	ENST00000319653.9	+	5	2463	c.2233delC	c.(2233-2235)cagfs	p.Q745fs		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	745					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAAATCGATACAGACTTCCCC	0.567																																																	0													50.0	49.0	49.0					1																	240370345		2203	4300	6503	SO:0001589	frameshift_variant	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.2233delC	1.37:g.240370345delC	ENSP00000318884:p.Gln745fs		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Frame_Shift_Del	DEL	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.Q745fs	ENST00000319653.9	37	c.2233	CCDS31069.2	1																																																																																			FMN2	-	NULL	ENSG00000155816		0.567	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2		0.00	21	0	C	XM_371352		240370345	+1	tier1		no_errors	ENST00000319653	ensembl	human	known	74_37	frame_shift_del	21.43	33	9	DEL	1.000	-
FMO4	2329	genome.wustl.edu	37	1	171293316	171293316	+	Missense_Mutation	SNP	G	G	A	rs142319717	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:171293316G>A	ENST00000367749.3	+	5	691	c.361G>A	c.(361-363)Gaa>Aaa	p.E121K	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	121					drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					AGACTTCTCCGAAACTGGTCA	0.468																																					Pancreas(24;816 862 7754 7993 32832)												0								G	LYS/GLU	0,4406		0,0,2203	364.0	340.0	348.0		361	0.2	0.0	1	dbSNP_134	348	1,8599	1.2+/-3.3	0,1,4299	no	missense	FMO4	NM_002022.1	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	121/559	171293316	1,13005	2203	4300	6503	SO:0001583	missense	0			BC002780	CCDS1295.1	1q24.3	2011-08-04			ENSG00000076258	ENSG00000076258	1.14.13.8		3772	protein-coding gene	gene with protein product		136131		FMO2		8311461	Standard	NM_002022		Approved		uc001gho.3	P31512	OTTHUMG00000035506	ENST00000367749.3:c.361G>A	1.37:g.171293316G>A	ENSP00000356723:p.Glu121Lys		Q53XR0	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_4,prints_Flavin_mOase_1,prints_Flavin_mOase_3	p.E121K	ENST00000367749.3	37	c.361	CCDS1295.1	1	.	.	.	.	.	.	.	.	.	.	G	0.858	-0.736106	0.03111	0.0	1.16E-4	ENSG00000076258	ENST00000367749	T	0.52983	0.64	5.69	0.193	0.15139	.	1.342490	0.04388	N	0.361873	T	0.10252	0.0251	N	0.25060	0.705	0.09310	N	1	B	0.14438	0.01	B	0.13407	0.009	T	0.11591	-1.0581	10	0.07325	T	0.83	-3.1329	6.4096	0.21684	0.435:0.0:0.4525:0.1126	.	121	P31512	FMO4_HUMAN	K	121	ENSP00000356723:E121K	ENSP00000356723:E121K	E	+	1	0	FMO4	169559940	0.000000	0.05858	0.018000	0.16275	0.288000	0.27193	-0.612000	0.05616	-0.216000	0.10048	-0.982000	0.02568	GAA	FMO4	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase	ENSG00000076258		0.468	FMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO4	HGNC	protein_coding	OTTHUMT00000086223.1	-	0.00	33	0	G	NM_002022		171293316	+1	tier1	rs142319717	no_errors	ENST00000367749	ensembl	human	known	74_37	missense	20.73	65	17	SNP	0.000	A
FMN2	56776	genome.wustl.edu	37	1	240371125	240371125	+	Missense_Mutation	SNP	G	G	A	rs534635159	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:240371125G>A	ENST00000319653.9	+	5	3243	c.3013G>A	c.(3013-3015)Gga>Aga	p.G1005R		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1005	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCACTTCCCGGAGCGGGCAT	0.721																																																	0													3.0	5.0	4.0					1																	240371125		1555	3505	5060	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3013G>A	1.37:g.240371125G>A	ENSP00000318884:p.Gly1005Arg		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom	p.G1005R	ENST00000319653.9	37	c.3013	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499436	0.26861	.	.	ENSG00000155816	ENST00000319653	T	0.67865	-0.29	3.48	3.48	0.39840	Actin-binding FH2/DRF autoregulatory (1);Formin Homology 1 (1);	0.624661	0.14051	N	0.344794	D	0.82848	0.5126	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.84366	0.0541	9	.	.	.	.	10.4197	0.44344	0.0976:0.0:0.9024:0.0	.	1005	Q9NZ56	FMN2_HUMAN	R	1005	ENSP00000318884:G1005R	.	G	+	1	0	FMN2	238437748	0.041000	0.20044	0.068000	0.19968	0.007000	0.05969	0.934000	0.28910	1.955000	0.56771	0.479000	0.44913	GGA	FMN2	-	pfam_Formin_homology_1,smart_FH2_Formin	ENSG00000155816		0.721	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	-	0.00	45	0	G	XM_371352		240371125	+1	tier1	-	no_errors	ENST00000319653	ensembl	human	known	74_37	missense	26.23	43	16	SNP	0.997	A
FOXP1	27086	genome.wustl.edu	37	3	71064750	71064750	+	Silent	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:71064750G>A	ENST00000318789.4	-	12	1449	c.924C>T	c.(922-924)tgC>tgT	p.C308C	FOXP1_ENST00000498215.1_Silent_p.C308C|FOXP1_ENST00000484350.1_Silent_p.C232C|FOXP1_ENST00000468577.1_Silent_p.C308C|FOXP1_ENST00000475937.1_Silent_p.C308C|FOXP1_ENST00000491238.1_Silent_p.C310C|FOXP1_ENST00000493089.1_Silent_p.C308C	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	308					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTGGCCACTTGCATACACCAT	0.428			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													82.0	77.0	79.0					3																	71064750		2203	4300	6503	SO:0001819	synonymous_variant	0			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.924C>T	3.37:g.71064750G>A			A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.C308	ENST00000318789.4	37	c.924	CCDS2914.1	3																																																																																			FOXP1	-	NULL	ENSG00000114861		0.428	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1		0.00	47	0	G	NM_032682		71064750	-1			no_errors	ENST00000318789	ensembl	human	known	74_37	silent	5.80	65	4	SNP	1.000	A
FRMD6	122786	genome.wustl.edu	37	14	52188702	52188702	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:52188702G>A	ENST00000344768.5	+	12	1592	c.1396G>A	c.(1396-1398)Gag>Aag	p.E466K	FRMD6_ENST00000553556.1_Missense_Mutation_p.E108K|FRMD6_ENST00000356218.4_Missense_Mutation_p.E458K|RNU6-301P_ENST00000384277.1_RNA|FRMD6_ENST00000554167.1_Missense_Mutation_p.E389K|FRMD6_ENST00000395718.2_Missense_Mutation_p.E458K			Q96NE9	FRMD6_HUMAN	FERM domain containing 6	466					apical constriction (GO:0003383)|cellular protein localization (GO:0034613)|regulation of actin filament-based process (GO:0032970)	apical junction complex (GO:0043296)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CCGGGATCTGGAGCAGATGAA	0.453																																																	0													124.0	119.0	121.0					14																	52188702		2203	4300	6503	SO:0001583	missense	0			BI465118	CCDS9704.1, CCDS58318.1, CCDS58319.1	14q22.1	2011-06-22	2005-07-20	2005-07-20	ENSG00000139926	ENSG00000139926			19839	protein-coding gene	gene with protein product	"""expanded homolog"""	614555	"""chromosome 14 open reading frame 31"""	C14orf31			Standard	NM_152330		Approved	MGC17921, willin, EX1	uc001wzd.3	Q96NE9	OTTHUMG00000140294	ENST00000344768.5:c.1396G>A	14.37:g.52188702G>A	ENSP00000343899:p.Glu466Lys		D3DSB9|Q5HYF2|Q8N2X1|Q8WUH7	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.E466K	ENST00000344768.5	37	c.1396	CCDS58318.1	14	.	.	.	.	.	.	.	.	.	.	G	32	5.183140	0.94885	.	.	ENSG00000139926	ENST00000356218;ENST00000395718;ENST00000344768;ENST00000554167;ENST00000555703;ENST00000553556	T;T;T;T	0.77620	-1.11;-1.11;-0.89;-0.7	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.76835	0.4043	L	0.36672	1.1	0.80722	D	1	D;P;P	0.56035	0.974;0.956;0.944	P;B;P	0.50659	0.647;0.444;0.647	T	0.72640	-0.4232	10	0.24483	T	0.36	.	17.8984	0.88896	0.0:0.0:1.0:0.0	.	389;466;458	G3V4T7;Q96NE9;Q96NE9-2	.;FRMD6_HUMAN;.	K	458;458;466;389;106;108	ENSP00000348550:E458K;ENSP00000379068:E458K;ENSP00000343899:E466K;ENSP00000451977:E389K	ENSP00000343899:E466K	E	+	1	0	FRMD6	51258452	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.140000	0.94607	2.835000	0.97688	0.650000	0.86243	GAG	FRMD6	-	NULL	ENSG00000139926		0.453	FRMD6-002	KNOWN	basic|CCDS	protein_coding	FRMD6	HGNC	protein_coding	OTTHUMT00000276881.1	-	0.00	29	0	G	NM_152330		52188702	+1	tier1	-	no_errors	ENST00000344768	ensembl	human	known	74_37	missense	14.29	48	8	SNP	1.000	A
FRS2	10818	genome.wustl.edu	37	12	69967832	69967832	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:69967832C>A	ENST00000550389.1	+	7	870	c.624C>A	c.(622-624)aaC>aaA	p.N208K	FRS2_ENST00000299293.2_Missense_Mutation_p.N208K|FRS2_ENST00000397997.2_Missense_Mutation_p.N208K|FRS2_ENST00000549921.1_Missense_Mutation_p.N208K	NM_001278353.1|NM_001278357.1	NP_001265282.1|NP_001265286.1	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	208					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|anterior/posterior axis specification, embryo (GO:0008595)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|gastrulation with mouth forming second (GO:0001702)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|lens fiber cell development (GO:0070307)|neuroblast proliferation (GO:0007405)|neurotrophin TRK receptor signaling pathway (GO:0048011)|optic placode formation involved in camera-type eye formation (GO:0046619)|organ induction (GO:0001759)|phosphatidylinositol-mediated signaling (GO:0048015)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of apoptotic process (GO:0042981)|regulation of epithelial cell proliferation (GO:0050678)|regulation of ERK1 and ERK2 cascade (GO:0070372)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)|ventricular septum development (GO:0003281)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	fibroblast growth factor receptor binding (GO:0005104)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatase activator activity (GO:0019211)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AGCGGAAAAACCGCACAAGTG	0.408																																																	0													87.0	83.0	85.0					12																	69967832		1900	4116	6016	SO:0001583	missense	0			AF036717	CCDS41809.1	12q15	2008-02-05				ENSG00000166225			16971	protein-coding gene	gene with protein product		607743				8761293, 9660748	Standard	NM_001278351		Approved	SNT-1, FRS2alpha, SNT1, FRS2A	uc001suz.3	Q8WU20		ENST00000550389.1:c.624C>A	12.37:g.69967832C>A	ENSP00000447241:p.Asn208Lys		B0LPF2|B2R684|O43558|Q7LDQ6	Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.N208K	ENST00000550389.1	37	c.624	CCDS41809.1	12	.	.	.	.	.	.	.	.	.	.	C	2.749	-0.260381	0.05791	.	.	ENSG00000166225	ENST00000299293;ENST00000549921;ENST00000550389;ENST00000397997	T;T;T;T	0.21191	2.02;2.02;2.02;2.02	5.9	-1.94	0.07571	.	0.603599	0.20304	N	0.094966	T	0.06781	0.0173	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.10450	0.005	T	0.27088	-1.0084	9	.	.	.	-3.7307	2.1923	0.03902	0.1029:0.3034:0.2018:0.392	.	208	Q8WU20	FRS2_HUMAN	K	208	ENSP00000299293:N208K;ENSP00000450048:N208K;ENSP00000447241:N208K;ENSP00000381083:N208K	.	N	+	3	2	FRS2	68254099	0.006000	0.16342	0.262000	0.24481	0.644000	0.38419	-0.316000	0.08071	-0.725000	0.04901	-0.755000	0.03482	AAC	FRS2	-	NULL	ENSG00000166225		0.408	FRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRS2	HGNC	protein_coding	OTTHUMT00000403760.1	-	0.00	40	0	C	NM_006654		69967832	+1	tier1	-	no_errors	ENST00000299293	ensembl	human	known	74_37	missense	9.52	38	4	SNP	0.012	A
FSTL1	11167	genome.wustl.edu	37	3	120128473	120128473	+	Missense_Mutation	SNP	C	C	T	rs554312023		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:120128473C>T	ENST00000295633.3	-	6	724	c.368G>A	c.(367-369)cGt>cAt	p.R123H	FSTL1_ENST00000424703.2_Missense_Mutation_p.R88H	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	123					BMP signaling pathway (GO:0030509)|response to starvation (GO:0042594)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.R123H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GATGATGCGACGTCGGAGCTC	0.502													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22184	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)											94.0	88.0	90.0					3																	120128473		2203	4300	6503	SO:0001583	missense	0			U06863	CCDS2998.1	3q13.33	2013-01-10			ENSG00000163430	ENSG00000163430		"""EF-hand domain containing"""	3972	protein-coding gene	gene with protein product		605547				7957230, 9786430	Standard	NM_007085		Approved	FRP, FSL1	uc003eds.3	Q12841	OTTHUMG00000159440	ENST00000295633.3:c.368G>A	3.37:g.120128473C>T	ENSP00000295633:p.Arg123His		A8K523|B4DTT5|D3DN90|Q549Z0	Missense_Mutation	SNP	pfam_Kazal_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Kazal_dom,pfscan_EF_hand_dom	p.R123H	ENST00000295633.3	37	c.368	CCDS2998.1	3	.	.	.	.	.	.	.	.	.	.	C	15.56	2.870192	0.51588	.	.	ENSG00000163430	ENST00000295633;ENST00000539471;ENST00000424703;ENST00000469005	T;T;T	0.23950	2.4;1.88;2.44	5.24	3.45	0.39498	.	0.341398	0.34507	N	0.003916	T	0.19327	0.0464	L	0.38175	1.15	0.40669	D	0.98219	B;B	0.24483	0.104;0.051	B;B	0.15052	0.011;0.012	T	0.04140	-1.0974	10	0.42905	T	0.14	-9.9698	10.6484	0.45634	0.0:0.8459:0.0:0.1541	.	88;123	B4DTT5;Q12841	.;FSTL1_HUMAN	H	123;66;88;123	ENSP00000295633:R123H;ENSP00000394355:R88H;ENSP00000418505:R123H	ENSP00000295633:R123H	R	-	2	0	FSTL1	121611163	0.005000	0.15991	0.999000	0.59377	0.992000	0.81027	0.611000	0.24268	0.614000	0.30107	-0.136000	0.14681	CGT	FSTL1	-	NULL	ENSG00000163430		0.502	FSTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSTL1	HGNC	protein_coding	OTTHUMT00000355399.1	-	0.00	27	0	C	NM_007085		120128473	-1	tier1	-	no_errors	ENST00000295633	ensembl	human	known	74_37	missense	21.05	30	8	SNP	0.988	T
FUCA1	2517	genome.wustl.edu	37	1	24172588	24172588	+	Silent	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:24172588G>A	ENST00000374479.3	-	7	1243	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	412					fucose metabolic process (GO:0006004)|glycosaminoglycan catabolic process (GO:0006027)|glycoside catabolic process (GO:0016139)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		TAGTTATGGGGGATTCAAGGT	0.423																																																	0													99.0	96.0	97.0					1																	24172588		2203	4300	6503	SO:0001819	synonymous_variant	0			BC017338	CCDS244.2	1p34	2012-10-02			ENSG00000179163	ENSG00000179163	3.2.1.51		4006	protein-coding gene	gene with protein product		612280				2803312	Standard	NM_000147		Approved		uc001bie.3	P04066	OTTHUMG00000002965	ENST00000374479.3:c.1236C>T	1.37:g.24172588G>A			B2RBG3|Q14334|Q14335|Q3LID0|Q8NAC2	Silent	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.S412	ENST00000374479.3	37	c.1236	CCDS244.2	1																																																																																			FUCA1	-	smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub	ENSG00000179163		0.423	FUCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA1	HGNC	protein_coding	OTTHUMT00000008259.2	-	0.00	62	0	G	NM_000147		24172588	-1	tier1	-	no_errors	ENST00000374479	ensembl	human	known	74_37	silent	12.86	61	9	SNP	0.024	A
GALNT14	79623	genome.wustl.edu	37	2	31133876	31133876	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:31133876C>A	ENST00000349752.5	-	15	2189	c.1550G>T	c.(1549-1551)tGc>tTc	p.C517F	GALNT14_ENST00000356174.3_Missense_Mutation_p.C484F|GALNT14_ENST00000406653.1_Missense_Mutation_p.C497F|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Missense_Mutation_p.C522F|GALNT14_ENST00000420311.2_Missense_Mutation_p.C482F	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	517	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGTATCGAGGCAGAGGTGGGA	0.507																																																	0													216.0	178.0	191.0					2																	31133876		2203	4300	6503	SO:0001583	missense	0			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1550G>T	2.37:g.31133876C>A	ENSP00000288988:p.Cys517Phe		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.C517F	ENST00000349752.5	37	c.1550	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	C	17.35	3.367020	0.61513	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311	T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98	5.26	5.26	0.73747	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.71904	0.3395	M	0.89715	3.055	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;0.999;1.0;0.999	T	0.78773	-0.2073	10	0.87932	D	0	.	17.6483	0.88154	0.0:1.0:0.0:0.0	.	482;522;517;497	F5H263;Q96FL9-3;Q96FL9;B3KV89	.;.;GLT14_HUMAN;.	F	517;522;497;484;482	ENSP00000288988:C517F;ENSP00000314500:C522F;ENSP00000385435:C497F;ENSP00000348497:C484F;ENSP00000415514:C482F	ENSP00000314500:C522F	C	-	2	0	GALNT14	30987380	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	4.945000	0.63568	2.458000	0.83093	0.655000	0.94253	TGC	GALNT14	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000158089		0.507	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	HGNC	protein_coding	OTTHUMT00000157264.1	-	0.00	28	0	C	NM_024572		31133876	-1	tier1	-	no_errors	ENST00000349752	ensembl	human	known	74_37	missense	21.74	36	10	SNP	1.000	A
GALNT16	57452	genome.wustl.edu	37	14	69787458	69787458	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:69787458G>A	ENST00000337827.4	+	2	535	c.208G>A	c.(208-210)Gag>Aag	p.E70K	GALNT16_ENST00000448469.3_Missense_Mutation_p.E70K|GALNT16_ENST00000553669.1_Missense_Mutation_p.E70K	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	70					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										AGGCTTTGATGAGAAGGCCTA	0.592																																																	0													98.0	96.0	97.0					14																	69787458		2203	4300	6503	SO:0001583	missense	0			AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.208G>A	14.37:g.69787458G>A	ENSP00000336729:p.Glu70Lys		Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E70K	ENST00000337827.4	37	c.208	CCDS32107.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.681520	0.96774	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.55234	0.65;0.65;0.53	5.62	5.62	0.85841	.	0.000000	0.64402	D	0.000001	T	0.62684	0.2448	L	0.34521	1.04	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.98;0.985	T	0.54490	-0.8286	10	0.19590	T	0.45	.	19.6506	0.95805	0.0:0.0:1.0:0.0	.	70;70	Q8N428;Q58A55	GLTL1_HUMAN;.	K	70	ENSP00000336729:E70K;ENSP00000402970:E70K;ENSP00000451200:E70K	ENSP00000336729:E70K	E	+	1	0	GALNTL1	68857211	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.476000	0.97823	2.660000	0.90430	0.650000	0.86243	GAG	GALNT16	-	NULL	ENSG00000100626		0.592	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT16	HGNC	protein_coding	OTTHUMT00000412434.1	-	0.00	31	0	G	NM_001168368		69787458	+1	tier1	-	no_errors	ENST00000337827	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	A
GALNT2	2590	genome.wustl.edu	37	1	230203084	230203084	+	Silent	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:230203084C>T	ENST00000366672.4	+	1	129	c.57C>T	c.(55-57)atC>atT	p.I19I	GALNT2_ENST00000543760.1_Intron|GALNT2_ENST00000541865.1_5'UTR	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	polypeptide N-acetylgalactosaminyltransferase 2	19					cellular protein metabolic process (GO:0044267)|immunoglobulin biosynthetic process (GO:0002378)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGCTGGGCATCGCCTACTACA	0.766																																																	0													6.0	5.0	5.0					1																	230203084		2005	3953	5958	SO:0001819	synonymous_variant	0			BC041120	CCDS1582.1	1q41-q42	2014-03-13	2014-03-13		ENSG00000143641	ENSG00000143641	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4124	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 2"""	602274	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)"""			9592121, 7592619	Standard	NM_004481		Approved	GalNAc-T2	uc010pwa.1	Q10471	OTTHUMG00000037771	ENST00000366672.4:c.57C>T	1.37:g.230203084C>T			A8K1Y3|B7Z8V8|C5HU00|Q9NPY4	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.I19	ENST00000366672.4	37	c.57	CCDS1582.1	1																																																																																			GALNT2	-	NULL	ENSG00000143641		0.766	GALNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT2	HGNC	protein_coding	OTTHUMT00000092158.1		0.00	11	0	C	NM_004481		230203084	+1			no_errors	ENST00000366672	ensembl	human	known	74_37	silent	30.00	7	3	SNP	0.999	T
GIGYF2	26058	genome.wustl.edu	37	2	233651893	233651893	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:233651893C>T	ENST00000409547.1	+	11	877	c.566C>T	c.(565-567)tCa>tTa	p.S189L	GIGYF2_ENST00000373566.3_Missense_Mutation_p.S211L|GIGYF2_ENST00000409480.1_Missense_Mutation_p.S211L|GIGYF2_ENST00000409451.3_Missense_Mutation_p.S211L|GIGYF2_ENST00000409196.3_Missense_Mutation_p.S189L|GIGYF2_ENST00000373563.4_Missense_Mutation_p.S189L|GIGYF2_ENST00000452341.2_Missense_Mutation_p.S20L	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	189	Arg-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GGACCAACATCAGTAGGGAGA	0.393																																																	0													94.0	97.0	96.0					2																	233651893		2203	4300	6503	SO:0001583	missense	0			U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.566C>T	2.37:g.233651893C>T	ENSP00000386537:p.Ser189Leu		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	Missense_Mutation	SNP	pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF	p.S211L	ENST00000409547.1	37	c.632	CCDS33401.1	2	.	.	.	.	.	.	.	.	.	.	C	9.900	1.206630	0.22205	.	.	ENSG00000204120	ENST00000373566;ENST00000414511;ENST00000373563;ENST00000409480;ENST00000409547;ENST00000535418;ENST00000423659;ENST00000409196;ENST00000409451;ENST00000440945;ENST00000445650;ENST00000452341;ENST00000421778	T;T;T;T;T;T;T;T;T;T	0.78246	-0.92;-0.88;-0.92;-0.88;-0.8;-0.88;-0.92;-1.05;-1.16;-0.58	5.63	4.52	0.55395	.	0.252223	0.32736	N	0.005701	T	0.64271	0.2583	N	0.14661	0.345	0.31311	N	0.687116	B;P;B;P	0.36577	0.178;0.459;0.02;0.558	B;B;B;B	0.38264	0.113;0.269;0.006;0.165	T	0.71111	-0.4687	10	0.54805	T	0.06	-10.7263	13.2301	0.59938	0.0:0.8922:0.0:0.1078	.	20;211;189;189	E9PC50;A6H8W4;Q6Y7W6;E9PBB0	.;.;PERQ2_HUMAN;.	L	211;138;189;211;189;189;138;189;211;189;20;20;16	ENSP00000362667:S211L;ENSP00000362664:S189L;ENSP00000386765:S211L;ENSP00000386537:S189L;ENSP00000404195:S138L;ENSP00000387070:S189L;ENSP00000387170:S211L;ENSP00000410297:S189L;ENSP00000392218:S20L;ENSP00000411505:S20L	ENSP00000362664:S189L	S	+	2	0	GIGYF2	233360137	0.035000	0.19736	1.000000	0.80357	0.989000	0.77384	1.963000	0.40452	2.797000	0.96272	0.655000	0.94253	TCA	GIGYF2	-	NULL	ENSG00000204120		0.393	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	GIGYF2	HGNC	protein_coding	OTTHUMT00000330316.2	-	0.00	36	0	C	NM_001103146		233651893	+1	tier1	-	no_errors	ENST00000373566	ensembl	human	known	74_37	missense	18.87	43	10	SNP	0.743	T
GON4L	54856	genome.wustl.edu	37	1	155753818	155753818	+	Silent	SNP	T	T	C	rs150709993		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:155753818T>C	ENST00000368331.1	-	14	1899	c.1851A>G	c.(1849-1851)gtA>gtG	p.V617V	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Silent_p.V617V|GON4L_ENST00000271883.5_Silent_p.V617V|GON4L_ENST00000361040.5_Silent_p.V617V	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	617					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAGGCTCAGCTACACACTCCT	0.468																																																	0								T	,	1,4405	2.1+/-5.4	0,1,2202	183.0	143.0	156.0		1851,1851	2.7	1.0	1	dbSNP_134	156	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GON4L	NM_001037533.1,NM_032292.4	,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,	617/2241,617/1530	155753818	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1851A>G	1.37:g.155753818T>C			B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.V617	ENST00000368331.1	37	c.1851		1																																																																																			GON4L	-	NULL	ENSG00000116580		0.468	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		-	0.00	88	0	T	NM_032292		155753818	-1	tier1	rs150709993	no_errors	ENST00000368331	ensembl	human	known	74_37	silent	5.68	166	10	SNP	0.973	C
GON4L	54856	genome.wustl.edu	37	1	155753823	155753823	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:155753823A>G	ENST00000368331.1	-	14	1894	c.1846T>C	c.(1846-1848)Tgt>Cgt	p.C616R	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.C616R|GON4L_ENST00000271883.5_Missense_Mutation_p.C616R|GON4L_ENST00000361040.5_Missense_Mutation_p.C616R	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	616					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCAGCTACACACTCCTCCTCT	0.478																																																	0													185.0	145.0	158.0					1																	155753823		2203	4300	6503	SO:0001583	missense	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1846T>C	1.37:g.155753823A>G	ENSP00000357315:p.Cys616Arg		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.C616R	ENST00000368331.1	37	c.1846		1	.	.	.	.	.	.	.	.	.	.	G	1.557	-0.537822	0.04082	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	T;T;T;T	0.10477	3.07;3.07;3.07;2.87	4.57	2.54	0.30619	.	0.601232	0.17447	N	0.173907	T	0.00524	0.0017	N	0.00308	-1.67	0.33368	D	0.573202	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.46470	-0.9189	10	0.02654	T	1	.	4.2789	0.10822	0.1928:0.0:0.5586:0.2486	.	396;616;616;616;616	Q6PHZ4;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	R	616;616;616;616;616;95	ENSP00000396117:C616R;ENSP00000357315:C616R;ENSP00000271883:C616R;ENSP00000354322:C616R	ENSP00000271883:C616R	C	-	1	0	GON4L	154020447	0.002000	0.14202	0.991000	0.47740	0.970000	0.65996	1.136000	0.31467	0.675000	0.31264	-0.186000	0.12905	TGT	GON4L	-	NULL	ENSG00000116580		0.478	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		-	0.00	87	0	A	NM_032292		155753823	-1	tier1	-	no_errors	ENST00000368331	ensembl	human	known	74_37	missense	5.65	167	10	SNP	0.972	G
GNG4	2786	genome.wustl.edu	37	1	235715520	235715520	+	Silent	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:235715520C>T	ENST00000366598.4	-	3	332	c.117G>A	c.(115-117)gcG>gcA	p.A39A	GNG4_ENST00000391854.2_Silent_p.A39A|GNG4_ENST00000450593.1_Silent_p.A39A|GNG4_ENST00000484517.1_5'UTR|GNG4_ENST00000366597.1_Silent_p.A39A			P50150	GBG4_HUMAN	guanine nucleotide binding protein (G protein), gamma 4	39					cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of cell growth (GO:0030308)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00168)|Prostate(94;0.0776)|Acute lymphoblastic leukemia(190;0.23)	OV - Ovarian serous cystadenocarcinoma(106;0.000882)			CCAGGAGGTCCGCAGCTGCCT	0.557																																																	0													98.0	97.0	97.0					1																	235715520		2203	4300	6503	SO:0001819	synonymous_variant	0			BC022485	CCDS1607.1	1q42.3	2008-02-05			ENSG00000168243	ENSG00000168243			4407	protein-coding gene	gene with protein product		604388				7665596	Standard	NM_001098721		Approved		uc001hxh.4	P50150	OTTHUMG00000040740	ENST00000366598.4:c.117G>A	1.37:g.235715520C>T				Silent	SNP	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma	p.A39	ENST00000366598.4	37	c.117	CCDS1607.1	1																																																																																			GNG4	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma	ENSG00000168243		0.557	GNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNG4	HGNC	protein_coding	OTTHUMT00000097906.1	-	0.00	28	0	C	NM_004485		235715520	-1	tier1	-	no_errors	ENST00000366597	ensembl	human	known	74_37	silent	18.92	30	7	SNP	0.000	T
GPR115	221393	genome.wustl.edu	37	6	47682565	47682565	+	Silent	SNP	C	C	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:47682565C>A	ENST00000283303.2	+	6	1842	c.1584C>A	c.(1582-1584)atC>atA	p.I528I	GPR115_ENST00000371220.1_Silent_p.I585I|RN7SKP116_ENST00000516902.1_RNA|GPR115_ENST00000327753.3_Silent_p.I528I	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	528					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GCCCATTGATCATTGCTGTCA	0.453																																					GBM(22;431 510 9010 26644 32828)												0													177.0	167.0	170.0					6																	47682565		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095395	CCDS4922.2	6p12.3	2014-08-08			ENSG00000153294	ENSG00000153294		"""-"", ""GPCR / Class B : Orphans"""	19011	protein-coding gene	gene with protein product		614268				12435584	Standard	NM_153838		Approved	FLJ38076, PGR18	uc003oza.1	Q8IZF3	OTTHUMG00000014800	ENST00000283303.2:c.1584C>A	6.37:g.47682565C>A			B3KTD0|Q2PNZ0|Q5T5B5|Q5T5B6|Q86SN9|Q8IXE6	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.I585	ENST00000283303.2	37	c.1755	CCDS4922.2	6																																																																																			GPR115	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000153294		0.453	GPR115-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR115	HGNC	protein_coding	OTTHUMT00000040819.2		0.00	58	0	C	NM_153838		47682565	+1			no_errors	ENST00000371220	ensembl	human	known	74_37	silent	5.26	72	4	SNP	1.000	A
GPR26	2849	genome.wustl.edu	37	10	125426161	125426161	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr10:125426161C>T	ENST00000284674.1	+	1	291	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	80					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				CCGCCTGTGCCGCCTGGCTGC	0.701																																																	0													6.0	7.0	7.0					10																	125426161		2061	4072	6133	SO:0001583	missense	0				CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.238C>T	10.37:g.125426161C>T	ENSP00000284674:p.Arg80Cys		Q2M2E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R80C	ENST00000284674.1	37	c.238	CCDS7636.1	10	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314562	0.81358	.	.	ENSG00000154478	ENST00000284674	T	0.73363	-0.74	4.11	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	0.391569	0.26311	N	0.025110	T	0.77336	0.4115	L	0.50333	1.59	0.46437	D	0.999048	D	0.76494	0.999	P	0.56916	0.809	T	0.77520	-0.2557	10	0.56958	D	0.05	-28.2474	11.2891	0.49239	0.3309:0.6691:0.0:0.0	.	80	Q8NDV2	GPR26_HUMAN	C	80	ENSP00000284674:R80C	ENSP00000284674:R80C	R	+	1	0	GPR26	125416151	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.567000	0.67378	0.921000	0.36994	0.650000	0.86243	CGC	GPR26	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000154478		0.701	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR26	HGNC	protein_coding	OTTHUMT00000050850.1		0.00	10	0	C			125426161	+1			no_errors	ENST00000284674	ensembl	human	known	74_37	missense	18.75	13	3	SNP	1.000	T
GPT	2875	genome.wustl.edu	37	8	145730717	145730717	+	Missense_Mutation	SNP	C	C	T	rs376363949		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr8:145730717C>T	ENST00000528431.1	+	6	741	c.584C>T	c.(583-585)aCg>aTg	p.T195M	GPT_ENST00000394955.2_Missense_Mutation_p.T195M			P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	195					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|Phenelzine(DB00780)	TACTCGGCCACGCTGGCAGAG	0.677																																																	0								C	MET/THR	0,4352		0,0,2176	28.0	21.0	23.0		584	2.9	0.0	8		23	1,8555		0,1,4277	no	missense	GPT	NM_005309.2	81	0,1,6453	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	195/497	145730717	1,12907	2176	4278	6454	SO:0001583	missense	0				CCDS6430.1	8q24.3	2013-09-19			ENSG00000167701	ENSG00000167701	2.6.1.2		4552	protein-coding gene	gene with protein product		138200					Standard	NM_005309		Approved	ALT1, GPT1	uc003zdh.4	P24298	OTTHUMG00000165176	ENST00000528431.1:c.584C>T	8.37:g.145730717C>T	ENSP00000433586:p.Thr195Met		B0YJ18|D3DWM7|P78398|Q93076	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.T195M	ENST00000528431.1	37	c.584	CCDS6430.1	8	.	.	.	.	.	.	.	.	.	.	C	14.38	2.518829	0.44763	0.0	1.17E-4	ENSG00000167701	ENST00000528431;ENST00000394955	D;D	0.90444	-2.67;-2.67	4.75	2.94	0.34122	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.550749	0.19306	N	0.117506	D	0.93423	0.7902	M	0.76938	2.355	0.09310	N	1	D;D	0.64830	0.994;0.983	P;P	0.61874	0.895;0.819	D	0.86237	0.1641	10	0.87932	D	0	-8.2336	8.4767	0.33018	0.0:0.8068:0.0:0.1932	.	195;195	B4DPT5;P24298	.;ALAT1_HUMAN	M	195	ENSP00000433586:T195M;ENSP00000378408:T195M	ENSP00000378408:T195M	T	+	2	0	GPT	145701525	0.004000	0.15560	0.000000	0.03702	0.226000	0.24999	2.091000	0.41691	0.418000	0.25898	0.555000	0.69702	ACG	GPT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000167701		0.677	GPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT	HGNC	protein_coding	OTTHUMT00000382471.1	-	0.00	13	0	C			145730717	+1	tier1	-	no_errors	ENST00000394955	ensembl	human	known	74_37	missense	13.04	40	6	SNP	0.011	T
GRM5	2915	genome.wustl.edu	37	11	88242134	88242134	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:88242134C>T	ENST00000305447.4	-	9	3414	c.3265G>A	c.(3265-3267)Gtc>Atc	p.V1089I	GRM5_ENST00000455756.2_Missense_Mutation_p.V1057I|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000418177.2_Missense_Mutation_p.V1089I|GRM5-AS1_ENST00000531994.1_RNA|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000305432.5_Missense_Mutation_p.V1057I	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1089					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	GGGGCGCCGACGCCGGGGCTG	0.637																																																	0													12.0	15.0	14.0					11																	88242134		2199	4292	6491	SO:0001583	missense	0			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.3265G>A	11.37:g.88242134C>T	ENSP00000306138:p.Val1089Ile		Q6J164	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C	p.V1089I	ENST00000305447.4	37	c.3265	CCDS44694.1	11	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867778	0.32977	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447	D;D;D;D	0.88509	-2.38;-2.39;-2.39;-2.38	4.72	4.72	0.59763	.	0.819451	0.10712	U	0.642768	D	0.82356	0.5019	L	0.29908	0.895	0.09310	N	1	P;P	0.39391	0.671;0.542	B;B	0.28916	0.096;0.066	T	0.72040	-0.4410	9	.	.	.	.	17.6681	0.88209	0.0:1.0:0.0:0.0	.	1057;1089	P41594-2;P41594	.;GRM5_HUMAN	I	1089;1057;1057;1089	ENSP00000402912:V1089I;ENSP00000405690:V1057I;ENSP00000305905:V1057I;ENSP00000306138:V1089I	.	V	-	1	0	GRM5	87881782	0.422000	0.25473	0.098000	0.21074	0.642000	0.38348	2.942000	0.49018	2.141000	0.66446	0.563000	0.77884	GTC	GRM5	-	NULL	ENSG00000168959		0.637	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM5	HGNC	protein_coding	OTTHUMT00000259226.1	-	0.00	38	0	C	NM_000842		88242134	-1	tier1	-	no_errors	ENST00000305447	ensembl	human	known	74_37	missense	22.92	37	11	SNP	0.229	T
GTF3C4	9329	genome.wustl.edu	37	9	135553982	135553982	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:135553982C>T	ENST00000372146.4	+	2	1540	c.976C>T	c.(976-978)Cga>Tga	p.R326*	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	326					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GCACAATAATCGAAAAATGAG	0.418																																					Pancreas(142;417 1875 11086 31973 47667)												0													166.0	159.0	161.0					9																	135553982		2203	4300	6503	SO:0001587	stop_gained	0			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.976C>T	9.37:g.135553982C>T	ENSP00000361219:p.Arg326*		Q5VZJ7	Nonsense_Mutation	SNP	superfamily_WD40_repeat_dom	p.R326*	ENST00000372146.4	37	c.976	CCDS6953.1	9	.	.	.	.	.	.	.	.	.	.	C	42	9.175262	0.99091	.	.	ENSG00000125484	ENST00000372146	.	.	.	5.82	2.77	0.32553	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.8235	13.8944	0.63761	0.4086:0.5914:0.0:0.0	.	.	.	.	X	326	.	ENSP00000361219:R326X	R	+	1	2	GTF3C4	134543803	0.972000	0.33761	0.996000	0.52242	0.973000	0.67179	2.238000	0.43070	0.743000	0.32719	-0.314000	0.08810	CGA	GTF3C4	-	superfamily_WD40_repeat_dom	ENSG00000125484		0.418	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C4	HGNC	protein_coding	OTTHUMT00000054792.1		0.00	26	0	C			135553982	+1			no_errors	ENST00000372146	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	0.999	T
HAO2	51179	genome.wustl.edu	37	1	119935261	119935261	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:119935261A>C	ENST00000325945.3	+	7	1024	c.951A>C	c.(949-951)gaA>gaC	p.E317D	HAO2_ENST00000482991.1_3'UTR|HAO2_ENST00000361035.4_Missense_Mutation_p.E330D	NM_001005783.1|NM_016527.2	NP_001005783.1|NP_057611.1	Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	317	FMN hydroxy acid dehydrogenase. {ECO:0000255|PROSITE-ProRule:PRU00683}.				fatty acid oxidation (GO:0019395)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	(S)-2-hydroxy-acid oxidase activity (GO:0003973)|FMN binding (GO:0010181)|long-chain-(S)-2-hydroxy-long-chain-acid oxidase activity (GO:0052853)|medium-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052854)|receptor binding (GO:0005102)|very-long-chain-(S)-2-hydroxy-acid oxidase activity (GO:0052852)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GTGTTAAGGAAGTTTTGAACA	0.408																																																	0													138.0	119.0	125.0					1																	119935261		2203	4300	6503	SO:0001583	missense	0			AF231917	CCDS901.1	1p13.3-p13.1	2008-07-18			ENSG00000116882	ENSG00000116882	1.1.3.15		4810	protein-coding gene	gene with protein product	"""(S)-2-hydroxy-acid oxidase"", ""glycolate oxidase"", ""long-chain L-2-hydroxy acid oxidase"", ""growth-inhibiting protein 16"""	605176				10777549	Standard	XM_005270913		Approved	HAOX2, GIG16	uc001ehr.1	Q9NYQ3	OTTHUMG00000012410	ENST00000325945.3:c.951A>C	1.37:g.119935261A>C	ENSP00000316339:p.Glu317Asp		Q2TU86|Q5QP00|Q9UJS6	Missense_Mutation	SNP	pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN	p.E330D	ENST00000325945.3	37	c.990	CCDS901.1	1	.	.	.	.	.	.	.	.	.	.	A	9.636	1.137812	0.21123	.	.	ENSG00000116882	ENST00000361035;ENST00000325945	T;T	0.29397	1.57;1.57	5.52	3.18	0.36537	Aldolase-type TIM barrel (1);FMN-dependent dehydrogenase (1);	0.225630	0.45867	N	0.000325	T	0.04907	0.0132	N	0.17082	0.46	0.45733	D	0.998631	B	0.02656	0.0	B	0.04013	0.001	T	0.26503	-1.0101	9	.	.	.	-18.7178	1.4038	0.02276	0.5587:0.1367:0.1569:0.1477	.	317	Q9NYQ3	HAOX2_HUMAN	D	330;317	ENSP00000354314:E330D;ENSP00000316339:E317D	.	E	+	3	2	HAO2	119736784	0.987000	0.35691	0.995000	0.50966	0.637000	0.38172	0.365000	0.20348	0.510000	0.28216	0.460000	0.39030	GAA	HAO2	-	pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN	ENSG00000116882		0.408	HAO2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HAO2	HGNC	protein_coding	OTTHUMT00000034984.1	-	0.00	33	0	A	NM_001005783		119935261	+1	tier1	-	no_errors	ENST00000361035	ensembl	human	known	74_37	missense	18.18	54	12	SNP	0.998	C
HDAC10	83933	genome.wustl.edu	37	22	50685358	50685358	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr22:50685358G>A	ENST00000216271.5	-	15	1812	c.1460C>T	c.(1459-1461)gCa>gTa	p.A487V	MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.A467V|HDAC10_ENST00000448072.1_Missense_Mutation_p.A437V|TUBGCP6_ENST00000439308.2_5'Flank|HDAC10_ENST00000498366.1_5'UTR|TUBGCP6_ENST00000248846.5_5'Flank	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	487					chromatin modification (GO:0016568)|histone deacetylation (GO:0016575)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|oligodendrocyte development (GO:0014003)|protein deacetylation (GO:0006476)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)	p.A487V(1)		endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGTGGCTGCTGCAGCAGAGGC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											35.0	33.0	34.0					22																	50685358		2203	4300	6503	SO:0001583	missense	0			AF393962	CCDS14088.1, CCDS54545.1	22q13.31	2008-06-10			ENSG00000100429	ENSG00000100429			18128	protein-coding gene	gene with protein product		608544				11677242, 11726666	Standard	NM_032019		Approved	DKFZP761B039	uc003bkg.3	Q969S8	OTTHUMG00000044647	ENST00000216271.5:c.1460C>T	22.37:g.50685358G>A	ENSP00000216271:p.Ala487Val		Q08AP4|Q6STF9|Q96P77|Q96P78|Q9H028|Q9UGX1|Q9UGX2	Missense_Mutation	SNP	pfam_His_deacetylse_dom,prints_His_deacetylse	p.A487V	ENST00000216271.5	37	c.1460	CCDS14088.1	22	.	.	.	.	.	.	.	.	.	.	G	3.117	-0.181450	0.06340	.	.	ENSG00000100429	ENST00000216271;ENST00000448072;ENST00000349505	T;T;T	0.31510	1.49;1.49;1.49	5.18	-7.98	0.01135	.	1.125660	0.06460	N	0.729282	T	0.14917	0.0360	N	0.21448	0.665	0.09310	N	0.999998	B;B;B;B	0.15141	0.002;0.001;0.012;0.001	B;B;B;B	0.14023	0.004;0.002;0.01;0.002	T	0.25222	-1.0138	10	0.30854	T	0.27	3.6715	4.7883	0.13236	0.6162:0.1084:0.1658:0.1096	.	467;437;487;487	Q969S8-2;C9J8B8;Q969S8-4;Q969S8	.;.;.;HDA10_HUMAN	V	487;437;467	ENSP00000216271:A487V;ENSP00000397542:A437V;ENSP00000343540:A467V	ENSP00000216271:A487V	A	-	2	0	HDAC10	49027485	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.693000	0.05121	-1.089000	0.03073	-0.150000	0.13652	GCA	HDAC10	-	NULL	ENSG00000100429		0.577	HDAC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC10	HGNC	protein_coding	OTTHUMT00000104141.4		0.00	26	0	G	NM_032019		50685358	-1			no_errors	ENST00000216271	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.000	A
HHIPL1	84439	genome.wustl.edu	37	14	100135215	100135215	+	Intron	SNP	G	G	T	rs138192019	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:100135215G>T	ENST00000330710.5	+	7	1828				HHIPL1_ENST00000357223.2_Missense_Mutation_p.V593L	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1						carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				AGCTCCTTCCGTGTGCagctc	0.602																																																	0													86.0	81.0	83.0					14																	100135215		2203	4300	6503	SO:0001627	intron_variant	0			AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.1730+575G>T	14.37:g.100135215G>T			A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH	p.V593L	ENST00000330710.5	37	c.1777	CCDS45162.1	14	.	.	.	.	.	.	.	.	.	.	G	8.793	0.931102	0.18131	.	.	ENSG00000182218	ENST00000357223	T	0.13538	2.58	2.13	0.97	0.19692	.	24.178300	0.00397	U	0.000046	T	0.12860	0.0312	.	.	.	0.09310	N	1	P	0.48162	0.906	P	0.45577	0.486	T	0.12941	-1.0528	9	0.27785	T	0.31	.	3.5472	0.07832	0.7733:0.0:0.2267:0.0	.	593	Q96JK4-2	.	L	593	ENSP00000349757:V593L	ENSP00000349757:V593L	V	+	1	0	HHIPL1	99204968	0.000000	0.05858	0.008000	0.14137	0.057000	0.15508	-0.498000	0.06420	0.257000	0.21650	-0.379000	0.06801	GTG	HHIPL1	-	NULL	ENSG00000182218		0.602	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HHIPL1	HGNC	protein_coding	OTTHUMT00000413811.1	-	0.00	27	0	G	XM_041566		100135215	+1	tier1	-	no_errors	ENST00000357223	ensembl	human	known	74_37	missense	10.20	44	5	SNP	0.012	T
HIST1H2BK	85236	genome.wustl.edu	37	6	27114372	27114372	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:27114372T>C	ENST00000356950.1	-	1	205	c.206A>G	c.(205-207)gAc>gGc	p.D69G	HIST1H2AH_ENST00000377459.1_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000396891.4_Missense_Mutation_p.D69G			O60814	H2B1K_HUMAN	histone cluster 1, H2bk	69					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTCGAAGATGTCGTTGACGAA	0.592																																																	0													143.0	134.0	137.0					6																	27114372		2203	4300	6503	SO:0001583	missense	0			AJ223352	CCDS4621.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000197903	ENSG00000197903		"""Histones / Replication-dependent"""	13954	protein-coding gene	gene with protein product		615045	"""H2B histone family, member T"", ""histone 1, H2bk"""	H2BFT		12408966	Standard	NM_080593		Approved	H2BFAiii	uc003nix.2	O60814	OTTHUMG00000014473	ENST00000356950.1:c.206A>G	6.37:g.27114372T>C	ENSP00000349430:p.Asp69Gly		A8K7P7|Q2VPI7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.D69G	ENST00000356950.1	37	c.206	CCDS4621.1	6	.	.	.	.	.	.	.	.	.	.	.	17.64	3.438906	0.63067	.	.	ENSG00000197903	ENST00000396891;ENST00000356950	T;T	0.28895	1.59;1.59	3.82	3.82	0.43975	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.56171	0.1967	H	0.98133	4.155	0.42466	D	0.992801	P	0.43909	0.821	P	0.55749	0.783	T	0.70004	-0.4991	9	0.87932	D	0	.	11.2029	0.48751	0.0:0.0:0.0:1.0	.	69	O60814	H2B1K_HUMAN	G	69	ENSP00000380100:D69G;ENSP00000349430:D69G	ENSP00000349430:D69G	D	-	2	0	HIST1H2BK	27222351	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.476000	0.66793	1.692000	0.51112	0.528000	0.53228	GAC	HIST1H2BK	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	ENSG00000197903		0.592	HIST1H2BK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2BK	HGNC	protein_coding	OTTHUMT00000040141.1	-	0.00	151	0	T	NM_080593		27114372	-1	tier1	-	no_errors	ENST00000356950	ensembl	human	known	74_37	missense	14.91	135	24	SNP	1.000	C
HLA-DPB1	3115	genome.wustl.edu	37	6	33048784	33048784	+	Intron	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:33048784G>A	ENST00000418931.2	+	2	480				HLA-DPB1_ENST00000471184.1_Intron|HLA-DPA1_ENST00000419277.1_5'Flank|HLA-DPB1_ENST00000535465.1_3'UTR	NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	peptide antigen binding (GO:0042605)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						AGGAGCAGCCGGGTTGGCCTA	0.721																																																	0																																										SO:0001627	intron_variant	0				CCDS4765.1	6p21.3	2013-01-11			ENSG00000223865	ENSG00000223865		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4940	protein-coding gene	gene with protein product		142858		HLA-DP1B			Standard	NM_002121		Approved		uc003ocu.2	P04440	OTTHUMG00000031076	ENST00000418931.2:c.364+72G>A	6.37:g.33048784G>A			A0PFJ7|A5I886|A8YPB3|B5U8B4|B7VF80|B7VF87|B8ZX68|B8ZYT0|B9W5S8|B9W6F7|B9W6F9|C0MPP5|C0MPQ2|C0MPQ3|C0MPQ5|C0MPQ6|C0MPQ7|C4R9J5|C5IZL1|O00259|O19698|O19700|O19702|O19749|O46884|O77952|O98215|O98216|O98217|O98218|O98219|O98222|O98223|P01916|P04232|P13763|P79493|P79608|Q0P0L4|Q0ZFN3|Q14279|Q27S71|Q29682|Q29684|Q29698|Q29714|Q29775|Q29776|Q29778|Q29779|Q29781|Q29827|Q29828|Q29879|Q29880|Q29898|Q29977|Q2MGW3|Q30015|Q30031|Q30032|Q30033|Q30034|Q30050|Q30051|Q30052|Q30053|Q30054|Q30055|Q30174|Q4GY31|Q4JHD8|Q5ENE0|Q5ENE1|Q5ENW3|Q5EP46|Q5EP47|Q5EP49|Q5EP51|Q5EP52|Q5EP53|Q5EP56|Q5I4H8|Q5I4H9|Q5ISH4|Q5ISH5|Q5SQ73|Q5STP2|Q5YLA6|Q6IVX1|Q6LBX2|Q6LBX3|Q6LBX4|Q6LBX5|Q6LBX6|Q6LBX7|Q6PWX6|Q6TAS4|Q714U1|Q714U2|Q7YQ10|Q860Z7|Q8HWL7|Q8HWT5|Q8SNC4|Q95HC1|Q95IT7|Q95IT8|Q9BD13|Q9GIM2|Q9GIM4|Q9GIX6|Q9GJ41|Q9MY67|Q9TNT7|Q9TQE2|Q9XS11|Q9XS12	RNA	SNP	-	NULL	ENST00000418931.2	37	NULL	CCDS4765.1	6																																																																																			HLA-DPB1	-	-	ENSG00000223865		0.721	HLA-DPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DPB1	HGNC	protein_coding	OTTHUMT00000076106.2	-	0.00	33	0	G	NM_002121		33048784	+1	tier1	-	no_errors	ENST00000478189	ensembl	human	known	74_37	rna	20.97	49	13	SNP	0.001	A
HTRA4	203100	genome.wustl.edu	37	8	38840061	38840061	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr8:38840061T>A	ENST00000302495.4	+	7	1259	c.1159T>A	c.(1159-1161)Tcc>Acc	p.S387T		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	387	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GCAAATGCTGTCCCTCACTGT	0.423																																																	0													184.0	178.0	180.0					8																	38840061		2203	4300	6503	SO:0001583	missense	0			AK075205	CCDS6110.1	8p11.23	2008-02-05			ENSG00000169495	ENSG00000169495			26909	protein-coding gene	gene with protein product		610700					Standard	NM_153692		Approved	FLJ90724	uc003xmj.3	P83105	OTTHUMG00000164070	ENST00000302495.4:c.1159T>A	8.37:g.38840061T>A	ENSP00000305919:p.Ser387Thr		Q542Z4|Q6PF13	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.S387T	ENST00000302495.4	37	c.1159	CCDS6110.1	8	.	.	.	.	.	.	.	.	.	.	T	3.087	-0.187666	0.06299	.	.	ENSG00000169495	ENST00000302495	T	0.10288	2.89	5.09	3.3	0.37823	PDZ/DHR/GLGF (2);	0.287742	0.29551	N	0.011827	T	0.04861	0.0131	N	0.11845	0.185	0.19575	N	0.999967	B	0.09022	0.002	B	0.15052	0.012	T	0.43972	-0.9358	10	0.02654	T	1	-12.7947	9.4175	0.38530	0.0:0.8245:0.0:0.1755	.	387	P83105	HTRA4_HUMAN	T	387	ENSP00000305919:S387T	ENSP00000305919:S387T	S	+	1	0	HTRA4	38959218	0.624000	0.27102	0.999000	0.59377	0.961000	0.63080	0.802000	0.27069	0.662000	0.31006	-0.232000	0.12228	TCC	HTRA4	-	superfamily_PDZ,smart_PDZ	ENSG00000169495		0.423	HTRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA4	HGNC	protein_coding	OTTHUMT00000377077.1		0.00	46	0	T	NM_153692		38840061	+1			no_errors	ENST00000302495	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.997	A
ICA1	3382	genome.wustl.edu	37	7	8178478	8178478	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:8178478T>C	ENST00000402384.3	-	12	1318	c.1052A>G	c.(1051-1053)gAg>gGg	p.E351G	ICA1_ENST00000265577.7_Missense_Mutation_p.E350G|ICA1_ENST00000396675.3_Missense_Mutation_p.E351G|ICA1_ENST00000401396.1_Missense_Mutation_p.E339G|ICA1_ENST00000406470.2_Missense_Mutation_p.E351G|ICA1_ENST00000422063.2_Missense_Mutation_p.E380G			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	351					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|secretory granule membrane (GO:0030667)|synaptic vesicle membrane (GO:0030672)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ACCACCTTCCTCAGATTTCAT	0.284																																																	0													84.0	96.0	92.0					7																	8178478		2201	4297	6498	SO:0001583	missense	0				CCDS34602.1, CCDS64595.1	7p22	2006-12-13	2002-08-29		ENSG00000003147	ENSG00000003147			5343	protein-coding gene	gene with protein product		147625	"""islet cell autoantigen 1 (69kD)"""			7918678, 8777998	Standard	NM_001276478		Approved	ICAp69	uc003srm.3	Q05084	OTTHUMG00000152008	ENST00000402384.3:c.1052A>G	7.37:g.8178478T>C	ENSP00000385570:p.Glu351Gly		A8K7U1|B3FTQ2|P78506|Q13824|Q96HG3	Missense_Mutation	SNP	pfam_AH_dom,pfam_Islet_autoAg_Ica1_C,pfscan_AH_dom	p.E380G	ENST00000402384.3	37	c.1139	CCDS34602.1	7	.	.	.	.	.	.	.	.	.	.	T	14.65	2.598401	0.46318	.	.	ENSG00000003147	ENST00000402384;ENST00000406470;ENST00000265577;ENST00000396675;ENST00000401396;ENST00000422063	.	.	.	5.02	1.17	0.20885	Islet cell autoantigen Ica1, C-terminal (1);	0.446512	0.25634	N	0.029324	T	0.46054	0.1373	L	0.46157	1.445	0.45005	D	0.998023	P;B;P;B	0.42556	0.783;0.193;0.505;0.001	P;B;B;B	0.46796	0.527;0.185;0.305;0.001	T	0.30650	-0.9971	9	0.44086	T	0.13	-14.8892	4.961	0.14066	0.0:0.1753:0.158:0.6667	.	380;350;351;339	B3FTQ2;Q96HG3;Q05084;E9PDL4	.;.;ICA69_HUMAN;.	G	351;351;350;351;339;380	.	ENSP00000265577:E350G	E	-	2	0	ICA1	8145003	0.123000	0.22298	0.996000	0.52242	0.817000	0.46193	0.933000	0.28897	0.490000	0.27771	0.533000	0.62120	GAG	ICA1	-	pfam_Islet_autoAg_Ica1_C	ENSG00000003147		0.284	ICA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ICA1	HGNC	protein_coding	OTTHUMT00000324793.1	-	0.00	48	0	T	NM_004968		8178478	-1	tier1	-	no_errors	ENST00000422063	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.986	C
IFT172	26160	genome.wustl.edu	37	2	27679395	27679395	+	Silent	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:27679395G>A	ENST00000260570.3	-	30	3457	c.3354C>T	c.(3352-3354)gaC>gaT	p.D1118D		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1118					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTGCAGCGTGGTCAACAGCAG	0.522																																																	0													109.0	104.0	106.0					2																	27679395		2203	4300	6503	SO:0001819	synonymous_variant	0			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3354C>T	2.37:g.27679395G>A			A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.D1118	ENST00000260570.3	37	c.3354	CCDS1755.1	2																																																																																			IFT172	-	NULL	ENSG00000138002		0.522	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2		0.00	31	0	G	NM_015662		27679395	-1			no_errors	ENST00000260570	ensembl	human	known	74_37	silent	5.41	70	4	SNP	1.000	A
IGSF3	3321	genome.wustl.edu	37	1	117120149	117120149	+	Missense_Mutation	SNP	C	C	T	rs368581214		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:117120149C>T	ENST00000369486.3	-	11	4135	c.3370G>A	c.(3370-3372)Gca>Aca	p.A1124T	IGSF3_ENST00000318837.6_Missense_Mutation_p.A1144T|IGSF3_ENST00000369483.1_Missense_Mutation_p.A1144T	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1124					lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TAGAAGAGTGCGTCGTTGGAG	0.488																																																	0								C	THR/ALA,THR/ALA	0,4406		0,0,2203	134.0	135.0	135.0		3370,3430	4.7	0.1	1		135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	IGSF3	NM_001007237.1,NM_001542.2	58,58	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	1124/1195,1144/1215	117120149	1,13005	2203	4300	6503	SO:0001583	missense	0			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.3370G>A	1.37:g.117120149C>T	ENSP00000358498:p.Ala1124Thr		A6NJZ6|A6NMC7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.A1144T	ENST00000369486.3	37	c.3430	CCDS30813.1	1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.982690	0.53827	0.0	1.16E-4	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.03212	4.01;4.01;4.01	4.69	4.69	0.59074	.	0.230965	0.37053	N	0.002272	T	0.03053	0.0090	L	0.54323	1.7	0.43959	D	0.996634	D;D	0.64830	0.982;0.994	B;B	0.42319	0.383;0.383	T	0.48210	-0.9055	10	0.72032	D	0.01	-25.6931	15.1687	0.72850	0.0:1.0:0.0:0.0	.	1124;1144	O75054;A6NJZ6	IGSF3_HUMAN;.	T	1124;1144;1144	ENSP00000358498:A1124T;ENSP00000358495:A1144T;ENSP00000321184:A1144T	ENSP00000321184:A1144T	A	-	1	0	IGSF3	116921672	0.996000	0.38824	0.078000	0.20375	0.633000	0.38033	3.389000	0.52516	2.434000	0.82447	0.655000	0.94253	GCA	IGSF3	-	NULL	ENSG00000143061		0.488	IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF3	HGNC	protein_coding	OTTHUMT00000059040.1	-	0.00	64	0	C	NM_001542		117120149	-1	tier1	-	no_errors	ENST00000318837	ensembl	human	known	74_37	missense	15.94	58	11	SNP	0.753	T
IMPG2	50939	genome.wustl.edu	37	3	100962490	100962490	+	Silent	SNP	A	A	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:100962490A>C	ENST00000193391.7	-	13	2872	c.2685T>G	c.(2683-2685)acT>acG	p.T895T		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	895					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	AAGCTCCTGAAGTCTGGGTAT	0.438																																																	0													125.0	114.0	118.0					3																	100962490		2203	4300	6503	SO:0001819	synonymous_variant	0			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.2685T>G	3.37:g.100962490A>C			A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom	p.T895	ENST00000193391.7	37	c.2685	CCDS2940.1	3																																																																																			IMPG2	-	smart_SEA_dom,pfscan_SEA_dom	ENSG00000081148		0.438	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG2	HGNC	protein_coding	OTTHUMT00000353256.3	-	0.00	33	0	A			100962490	-1	tier1	-	no_errors	ENST00000193391	ensembl	human	known	74_37	silent	23.33	46	14	SNP	0.000	C
INF2	64423	genome.wustl.edu	37	14	105179229	105179229	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:105179229A>C	ENST00000392634.4	+	18	2787	c.2675A>C	c.(2674-2676)gAg>gCg	p.E892A	INF2_ENST00000330634.7_Missense_Mutation_p.E892A	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	892	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AAGCAACGGGAGCTGGCCGAC	0.637																																																	0													41.0	46.0	45.0					14																	105179229		2087	4210	6297	SO:0001583	missense	0			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2675A>C	14.37:g.105179229A>C	ENSP00000376410:p.Glu892Ala		Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Missense_Mutation	SNP	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom	p.E892A	ENST00000392634.4	37	c.2675	CCDS9989.2	14	.	.	.	.	.	.	.	.	.	.	A	12.99	2.102533	0.37145	.	.	ENSG00000203485	ENST00000330634;ENST00000392634	T;T	0.47177	0.85;0.85	4.93	3.75	0.43078	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.252874	0.39615	N	0.001304	T	0.41719	0.1171	L	0.46947	1.48	0.80722	D	1	B;B	0.24258	0.082;0.1	B;B	0.26094	0.039;0.066	T	0.26538	-1.0100	10	0.49607	T	0.09	.	11.6293	0.51164	0.8508:0.1492:0.0:0.0	.	892;892	Q27J81-2;Q27J81	.;INF2_HUMAN	A	892	ENSP00000376406:E892A;ENSP00000376410:E892A	ENSP00000252527:E360A	E	+	2	0	INF2	104250274	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	3.538000	0.53597	0.678000	0.31325	0.379000	0.24179	GAG	INF2	-	pfam_FH2_Formin,smart_FH2_Formin	ENSG00000203485		0.637	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	-	0.00	63	0	A	NM_022489		105179229	+1	tier1	-	no_errors	ENST00000392634	ensembl	human	known	74_37	missense	10.43	103	12	SNP	1.000	C
KCNH8	131096	genome.wustl.edu	37	3	19479757	19479757	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:19479757T>G	ENST00000328405.2	+	8	1545	c.1279T>G	c.(1279-1281)Ttc>Gtc	p.F427V	KCNH8_ENST00000537696.1_Missense_Mutation_p.F68V	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	427					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CGCTCTGTACTTCACGCTGAG	0.502																																					NSCLC(124;1625 1765 8018 24930 42026)												0													131.0	123.0	126.0					3																	19479757		2203	4300	6503	SO:0001583	missense	0			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1279T>G	3.37:g.19479757T>G	ENSP00000328813:p.Phe427Val		B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.F427V	ENST00000328405.2	37	c.1279	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	T	29.8	5.038924	0.93630	.	.	ENSG00000183960	ENST00000328405;ENST00000537696	D;T	0.98313	-4.86;1.07	5.6	5.6	0.85130	Ion transport (1);	0.000000	0.33382	U	0.004976	D	0.99048	0.9674	M	0.88105	2.93	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.995;0.995	D	0.99612	1.0981	9	.	.	.	.	15.7865	0.78306	0.0:0.0:0.0:1.0	.	68;427;427	B7Z2I7;B7Z398;Q96L42	.;.;KCNH8_HUMAN	V	427;68	ENSP00000328813:F427V;ENSP00000446294:F68V	.	F	+	1	0	KCNH8	19454761	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.956000	0.87863	2.125000	0.65367	0.454000	0.30748	TTC	KCNH8	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	ENSG00000183960		0.502	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	-	0.00	49	0	T	NM_144633		19479757	+1	tier1	-	no_errors	ENST00000328405	ensembl	human	known	74_37	missense	20.31	51	13	SNP	1.000	G
KIAA1211	57482	genome.wustl.edu	37	4	57164502	57164502	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:57164502T>G	ENST00000504228.1	+	2	212	c.107T>G	c.(106-108)gTc>gGc	p.V36G	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S22A|KIAA1211_ENST00000264229.6_Missense_Mutation_p.V36G			Q6ZU35	K1211_HUMAN	KIAA1211	36										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CTGGGCAAAGTCAAAACTCTT	0.498																																																	0													73.0	71.0	71.0					4																	57164502		1910	4132	6042	SO:0001583	missense	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.107T>G	4.37:g.57164502T>G	ENSP00000423366:p.Val36Gly		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.V36G	ENST00000504228.1	37	c.107	CCDS43230.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	15.02|15.02	2.708299|2.708299	0.48412|0.48412	.|.	.|.	ENSG00000109265|ENSG00000109265	ENST00000541073|ENST00000264229;ENST00000504228	T|T;T	0.12879|0.24151	2.64|1.87;1.87	5.35|5.35	4.14|4.14	0.48551|0.48551	.|.	.|.	.|.	.|.	.|.	T|T	0.43122|0.43122	0.1233|0.1233	L|L	0.55990|0.55990	1.75|1.75	0.21822|0.21822	N|N	0.999521|0.999521	D|D	0.55385|0.58620	0.971|0.983	P|D	0.50617|0.63597	0.646|0.916	T|T	0.21621|0.21621	-1.0240|-1.0240	9|9	0.87932|0.87932	D|D	0|0	-18.1538|-18.1538	11.4835|11.4835	0.50339|0.50339	0.0:0.0709:0.0:0.9291|0.0:0.0709:0.0:0.9291	.|.	22|36	F5H1N7|Q6ZU35	.|K1211_HUMAN	A|G	22|36	ENSP00000444006:S22A|ENSP00000264229:V36G;ENSP00000423366:V36G	ENSP00000444006:S22A|ENSP00000264229:V36G	S|V	+|+	1|2	0|0	KIAA1211|KIAA1211	56859259|56859259	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.729000|5.729000	0.68538|0.68538	1.011000|1.011000	0.39340|0.39340	0.533000|0.533000	0.62120|0.62120	TCA|GTC	KIAA1211	-	NULL	ENSG00000109265		0.498	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	-	0.00	53	0	T	NM_020722		57164502	+1	tier1	-	no_errors	ENST00000504228	ensembl	human	known	74_37	missense	18.46	53	12	SNP	1.000	G
KIAA1731	85459	genome.wustl.edu	37	11	93431665	93431665	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:93431665G>T	ENST00000325212.6	+	15	3749	c.3587G>T	c.(3586-3588)aGa>aTa	p.R1196I	KIAA1731_ENST00000411936.1_Missense_Mutation_p.R1196I|KIAA1731_ENST00000531700.1_Intron|KIAA1731_ENST00000344196.4_5'UTR			Q9C0D2	K1731_HUMAN	KIAA1731	1196						centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTGGAGAAAAGAATTTCTTCT	0.398																																																	0													48.0	42.0	44.0					11																	93431665		692	1591	2283	SO:0001583	missense	0			AB051518	CCDS44708.1	11q21	2014-03-11			ENSG00000166004	ENSG00000166004			29366	protein-coding gene	gene with protein product						20844083	Standard	NM_033395		Approved		uc009ywb.1	Q9C0D2	OTTHUMG00000167449	ENST00000325212.6:c.3587G>T	11.37:g.93431665G>T	ENSP00000316681:p.Arg1196Ile		C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	NULL	p.R1196I	ENST00000325212.6	37	c.3587	CCDS44708.1	11	.	.	.	.	.	.	.	.	.	.	g	3.829	-0.036073	0.07497	.	.	ENSG00000166004	ENST00000325212;ENST00000411936	T;T	0.10860	2.83;2.83	4.98	-6.54	0.01860	.	2.650150	0.01367	N	0.012428	T	0.04634	0.0126	N	0.04508	-0.205	0.09310	N	0.999999	B	0.10296	0.003	B	0.08055	0.003	T	0.36817	-0.9732	10	0.54805	T	0.06	2.8129	4.6501	0.12591	0.3757:0.0:0.1921:0.4322	.	1196	Q9C0D2	K1731_HUMAN	I	1196	ENSP00000316681:R1196I;ENSP00000406505:R1196I	ENSP00000316681:R1196I	R	+	2	0	KIAA1731	93071313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-2.102000	0.01343	-1.344000	0.02216	-0.984000	0.02558	AGA	KIAA1731	-	NULL	ENSG00000166004		0.398	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	-	0.00	23	0	G	NM_033395		93431665	+1	tier1	-	no_errors	ENST00000411936	ensembl	human	known	74_37	missense	34.38	21	11	SNP	0.000	T
KIDINS220	57498	genome.wustl.edu	37	2	8871835	8871835	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:8871835T>C	ENST00000256707.3	-	30	4512	c.4331A>G	c.(4330-4332)gAt>gGt	p.D1444G	KIDINS220_ENST00000427284.1_Missense_Mutation_p.D1425G|KIDINS220_ENST00000418530.1_Missense_Mutation_p.D1345G|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D1425G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1444					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCTCCCATCATCGGGCTTTGG	0.463																																																	0													153.0	147.0	149.0					2																	8871835		1876	4101	5977	SO:0001583	missense	0			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.4331A>G	2.37:g.8871835T>C	ENSP00000256707:p.Asp1444Gly		A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D1444G	ENST00000256707.3	37	c.4331	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	T	11.70	1.717084	0.30413	.	.	ENSG00000134313	ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731	T;T;T;T	0.66460	-0.21;-0.2;-0.17;-0.2	6.03	6.03	0.97812	.	0.352985	0.33980	N	0.004362	T	0.62575	0.2439	N	0.19112	0.55	0.46981	D	0.999279	B;B;P	0.39920	0.016;0.01;0.695	B;B;P	0.46275	0.066;0.03;0.51	T	0.67329	-0.5698	10	0.72032	D	0.01	.	16.5582	0.84512	0.0:0.0:0.0:1.0	.	1345;1444;298	Q9ULH0-2;Q9ULH0;B4DG84	.;KDIS_HUMAN;.	G	1444;1425;1345;1425	ENSP00000256707:D1444G;ENSP00000411849:D1425G;ENSP00000414923:D1345G;ENSP00000418974:D1425G	ENSP00000256707:D1444G	D	-	2	0	KIDINS220	8789286	1.000000	0.71417	0.185000	0.23176	0.006000	0.05464	5.420000	0.66441	2.308000	0.77769	0.533000	0.62120	GAT	KIDINS220	-	NULL	ENSG00000134313		0.463	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	-	0.00	69	0	T	NM_020738		8871835	-1	tier1	-	no_errors	ENST00000256707	ensembl	human	known	74_37	missense	5.00	95	5	SNP	1.000	C
KRTAP10-7	386675	genome.wustl.edu	37	21	46020630	46020630	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr21:46020630T>A	ENST00000380102.2	+	1	134	c.109T>A	c.(109-111)Tgc>Agc	p.C37S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	37						keratin filament (GO:0045095)				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GGTGGACGACTGCCCAGAGAG	0.682																																																	0													45.0	44.0	44.0					21																	46020630		1939	4092	6031	SO:0001583	missense	0			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.109T>A	21.37:g.46020630T>A	ENSP00000369445:p.Cys37Ser		Q0VDJ8|Q70LJ2	Missense_Mutation	SNP	NULL	p.C37S	ENST00000380102.2	37	c.109		21	.	.	.	.	.	.	.	.	.	.	N	12.69	2.014493	0.35511	.	.	ENSG00000205441	ENST00000380102	T	0.15718	2.4	4.2	1.62	0.23740	.	.	.	.	.	T	0.23410	0.0566	M	0.82823	2.61	0.23681	N	0.997128	B	0.25312	0.123	B	0.25759	0.063	T	0.19451	-1.0305	9	0.59425	D	0.04	.	8.3564	0.32333	0.0:0.0:0.3939:0.6061	.	37	P60409-2	.	S	37	ENSP00000369445:C37S	ENSP00000369445:C37S	C	+	1	0	KRTAP10-7	44845058	0.001000	0.12720	0.847000	0.33407	0.625000	0.37756	0.540000	0.23191	0.106000	0.17784	0.377000	0.23210	TGC	KRTAP10-7	-	NULL	ENSG00000205441		0.682	KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	KRTAP10-7	HGNC	protein_coding	OTTHUMT00000128038.1	-	0.00	122	0	T	NM_198689		46020630	+1	tier1	-	no_errors	ENST00000380102	ensembl	human	known	74_37	missense	12.58	139	20	SNP	0.976	A
LARS	51520	genome.wustl.edu	37	5	145493695	145493695	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:145493695C>T	ENST00000394434.2	-	32	3671	c.3505G>A	c.(3505-3507)Gat>Aat	p.D1169N	LARS_ENST00000274562.9_Missense_Mutation_p.D1142N|LARS_ENST00000510191.1_Missense_Mutation_p.D1115N|LARS_ENST00000545646.1_Missense_Mutation_p.D1123N|RP11-118M9.3_ENST00000514002.1_RNA	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	1169					gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ATTATTGTATCGCCAATATCC	0.403																																																	0													153.0	146.0	149.0					5																	145493695		2203	4300	6503	SO:0001583	missense	0			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.3505G>A	5.37:g.145493695C>T	ENSP00000377954:p.Asp1169Asn		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk	p.D1169N	ENST00000394434.2	37	c.3505	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854799	0.32791	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000540713;ENST00000510191;ENST00000274562	T;T;T;T	0.63913	-0.06;-0.06;-0.06;-0.07	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	L	0.57536	1.79	0.80722	D	1	B;D;B	0.89917	0.04;1.0;0.035	B;D;B	0.83275	0.007;0.996;0.016	T	0.70189	-0.4940	10	0.21014	T	0.42	.	18.7802	0.91928	0.0:1.0:0.0:0.0	.	1142;1123;1169	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	N	1169;1123;478;1115;1142	ENSP00000377954:D1169N;ENSP00000437791:D1123N;ENSP00000426005:D1115N;ENSP00000274562:D1142N	ENSP00000274562:D1142N	D	-	1	0	LARS	145473888	1.000000	0.71417	0.597000	0.28824	0.160000	0.22226	5.605000	0.67634	2.544000	0.85801	0.563000	0.77884	GAT	LARS	-	NULL	ENSG00000133706		0.403	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1	-	0.00	50	0	C	NM_020117		145493695	-1	tier1	-	no_errors	ENST00000394434	ensembl	human	known	74_37	missense	32.39	48	23	SNP	1.000	T
LCT	3938	genome.wustl.edu	37	2	136566100	136566100	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:136566100C>T	ENST00000264162.2	-	8	3827	c.3817G>A	c.(3817-3819)Gaa>Aaa	p.E1273K	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1273	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.E1273K(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	ACTCCGTTTTCGGTGATGTAA	0.512																																																	1	Substitution - Missense(1)	endometrium(1)											218.0	190.0	199.0					2																	136566100		2203	4300	6503	SO:0001583	missense	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.3817G>A	2.37:g.136566100C>T	ENSP00000264162:p.Glu1273Lys		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.E1273K	ENST00000264162.2	37	c.3817	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267147	0.80469	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.70869	-0.52	5.9	5.9	0.94986	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.088582	0.85682	D	0.000000	D	0.90113	0.6911	H	0.96805	3.885	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.92597	0.6088	10	0.87932	D	0	-21.7443	20.2821	0.98520	0.0:1.0:0.0:0.0	.	1273	P09848	LPH_HUMAN	K	1273;705	ENSP00000264162:E1273K	ENSP00000264162:E1273K	E	-	1	0	LCT	136282570	1.000000	0.71417	0.333000	0.25482	0.351000	0.29236	6.094000	0.71431	2.786000	0.95864	0.563000	0.77884	GAA	LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	ENSG00000115850		0.512	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	-	0.00	61	0	C	NM_002299		136566100	-1	tier1	-	no_errors	ENST00000264162	ensembl	human	known	74_37	missense	25.93	59	21	SNP	1.000	T
COMMD9	29099	genome.wustl.edu	37	11	36293071	36293071	+	IGR	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:36293071G>A	ENST00000263401.5	-	0	1745				COMMD9_ENST00000533308.1_5'Flank|LINC00610_ENST00000355500.1_lincRNA	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9											kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				tccccatgtggccctacgtgg	0.512																																																	0													79.0	72.0	75.0					11																	36293071		1920	3557	5477	SO:0001628	intergenic_variant	0			AY542164	CCDS7900.1, CCDS44571.1	11p13	2008-02-05			ENSG00000110442	ENSG00000110442			25014	protein-coding gene	gene with protein product		612299				15799966	Standard	NM_014186		Approved	HSPC166, FLJ31106	uc001mwn.4	Q9P000	OTTHUMG00000166333		11.37:g.36293071G>A			E9PAN2|Q96FI2|Q9H0R0	RNA	SNP	-	NULL	ENST00000263401.5	37	NULL	CCDS7900.1	11	.	.	.	.	.	.	.	.	.	.	G	10.16	1.273900	0.23221	.	.	ENSG00000196559	ENST00000355500	.	.	.	2.03	1.11	0.20524	.	.	.	.	.	T	0.44808	0.1311	.	.	.	.	.	.	.	.	.	.	.	.	T	0.53927	-0.8369	4	0.87932	D	0	.	4.5708	0.12208	0.1923:0.0:0.8077:0.0	.	.	.	.	S	96	.	ENSP00000347687:P96S	P	-	1	0	C11orf55	36249647	0.001000	0.12720	0.010000	0.14722	0.142000	0.21351	-0.078000	0.11375	0.434000	0.26340	0.655000	0.94253	CCA	LINC00610	-	-	ENSG00000196559		0.512	COMMD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINC00610	HGNC	protein_coding	OTTHUMT00000389196.1	-	0.00	35	0	G	NM_014186		36293071	-1	tier1	-	no_errors	ENST00000355500	ensembl	human	known	74_37	rna	29.73	26	11	SNP	0.010	A
LIPM	340654	genome.wustl.edu	37	10	90562792	90562792	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr10:90562792A>G	ENST00000404743.4	+	1	306	c.139A>G	c.(139-141)Atg>Gtg	p.M47V	LIPM_ENST00000539337.1_5'UTR	NM_001128215.1	NP_001121687.1	Q5VYY2	LIPM_HUMAN	lipase, family member M	47					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	hydrolase activity, acting on ester bonds (GO:0016788)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)|skin(1)	7						AGAAGCATTCATGAATATTGT	0.353																																																	0													143.0	127.0	132.0					10																	90562792		692	1591	2283	SO:0001583	missense	0				CCDS44457.1	10q23.31	2008-02-04	2007-02-27	2007-02-27	ENSG00000173239	ENSG00000173239			23455	protein-coding gene	gene with protein product		613923	"""lipase-like, ab-hydrolase domain containing 3"""	LIPL3			Standard	NM_001128215		Approved	bA304I5.1	uc009xtm.1	Q5VYY2	OTTHUMG00000018698	ENST00000404743.4:c.139A>G	10.37:g.90562792A>G	ENSP00000383901:p.Met47Val		A6PVS3|B2RXK7|B5MCR3	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.M47V	ENST00000404743.4	37	c.139	CCDS44457.1	10	.	.	.	.	.	.	.	.	.	.	A	17.54	3.415917	0.62511	.	.	ENSG00000173239	ENST00000404743	T	0.71341	-0.56	4.87	4.87	0.63330	.	.	.	.	.	T	0.53514	0.1801	N	0.08118	0	0.80722	D	1	P	0.42375	0.778	B	0.41332	0.354	T	0.63726	-0.6572	9	0.87932	D	0	-21.368	13.1304	0.59377	1.0:0.0:0.0:0.0	.	47	Q5VYY2	LIPM_HUMAN	V	47	ENSP00000383901:M47V	ENSP00000383901:M47V	M	+	1	0	LIPM	90552772	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.157000	0.64911	2.163000	0.67991	0.533000	0.62120	ATG	LIPM	-	NULL	ENSG00000173239		0.353	LIPM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPM	HGNC	protein_coding	OTTHUMT00000049261.3		0.00	55	0	A	XM_291663		90562792	+1			no_errors	ENST00000404743	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	G
RNU1-5P	107105261	genome.wustl.edu	37	1	17198898	17198898	+	lincRNA	SNP	C	C	T	rs559299265	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:17198898C>T	ENST00000362684.1	+	0	0																											GCCTCGGTGTCCCTCGCGGAG	0.617													.|||	9	0.00179712	0.0008	0.0	5008	,	,		34932	0.0		0.006	False		,,,				2504	0.002																0																																												0																															1.37:g.17198898C>T				RNA	SNP	-	NULL	ENST00000362684.1	37	NULL		1																																																																																			U1	-	-	ENSG00000228549		0.617	U1.1-201	KNOWN	basic	snRNA	LOC101927806	RFAM	lincRNA		-	0.00	11	0	C			17198898	+1	tier1	-	no_errors	ENST00000438002	ensembl	human	known	74_37	rna	22.73	17	5	SNP	0.001	T
LAMP5	24141	genome.wustl.edu	37	20	9495608	9495608	+	Intron	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr20:9495608G>A	ENST00000246070.2	+	1	556				LAMP5_ENST00000427562.2_Intron|RP5-1119D9.4_ENST00000443469.1_RNA	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5							cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											GGCACTCTTTGCAGAGAACAG	0.468																																																	0													67.0	58.0	61.0					20																	9495608		2203	4300	6503	SO:0001627	intron_variant	0			AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.64+45G>A	20.37:g.9495608G>A			B4DHZ7|B7Z9Z9	RNA	SNP	-	NULL	ENST00000246070.2	37	NULL	CCDS13106.1	20																																																																																			RP5-1119D9.4	-	-	ENSG00000225988		0.468	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101929329	Clone_based_vega_gene	protein_coding	OTTHUMT00000077946.2	-	0.00	44	0	G	NM_012261		9495608	-1	tier1	-	no_errors	ENST00000443469	ensembl	human	known	74_37	rna	9.09	40	4	SNP	0.001	A
LOC220729	220729	genome.wustl.edu	37	3	197349143	197349143	+	RNA	SNP	T	T	C	rs202141824	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:197349143T>C	ENST00000418868.1	-	0	434					NR_003266.2																						CACGGTGTCATAGAAATGCCA	0.592																																																	0																																												0																															3.37:g.197349143T>C				RNA	SNP	-	NULL	ENST00000418868.1	37	NULL		3																																																																																			AC024560.3	-	-	ENSG00000214135		0.592	AC024560.3-001	KNOWN	basic	processed_transcript	LOC220729	Clone_based_vega_gene	pseudogene	OTTHUMT00000340283.1	-	0.00	50	0	T			197349143	-1	tier1	rs202141824	no_errors	ENST00000414207	ensembl	human	known	74_37	rna	10.75	83	10	SNP	1.000	C
LOC285556	285556	genome.wustl.edu	37	4	100572888	100572888	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:100572888C>T	ENST00000511828.1	-	1	2917	c.2918G>A	c.(2917-2919)cGg>cAg	p.R973Q																								GAGATCAGCCCGCCAGTCGCC	0.572																																																	0																																										SO:0001583	missense	0																														ENST00000511828.1:c.2918G>A	4.37:g.100572888C>T	ENSP00000427555:p.Arg973Gln			Missense_Mutation	SNP	NULL	p.R973Q	ENST00000511828.1	37	c.2918		4	.	.	.	.	.	.	.	.	.	.	C	10.63	1.405424	0.25378	.	.	ENSG00000248713	ENST00000511828	T	0.38722	1.12	4.2	2.44	0.29823	.	.	.	.	.	T	0.33118	0.0852	L	0.29908	0.895	.	.	.	.	.	.	.	.	.	T	0.42849	-0.9427	6	0.72032	D	0.01	.	4.7855	0.13223	0.0:0.5778:0.163:0.2592	.	.	.	.	Q	973	ENSP00000427555:R973Q	ENSP00000427555:R973Q	R	-	2	0	RP11-766F14.2	100791911	0.909000	0.30893	0.991000	0.47740	0.014000	0.08584	0.584000	0.23864	0.519000	0.28406	-0.222000	0.12452	CGG	RP11-766F14.2	-	NULL	ENSG00000248713		0.572	RP11-766F14.2-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	LOC285556	Clone_based_vega_gene	protein_coding	OTTHUMT00000365456.1	-	0.00	12	0	C			100572888	-1	tier1	-	no_errors	ENST00000511828	ensembl	human	putative	74_37	missense	21.95	32	9	SNP	0.979	T
LPA	4018	genome.wustl.edu	37	6	160999556	160999556	+	Splice_Site	SNP	T	T	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:160999556T>A	ENST00000316300.5	-	27	4514	c.4470A>T	c.(4468-4470)caA>caT	p.Q1490H	LPA_ENST00000447678.1_Splice_Site_p.Q1490H			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3998	Kringle 13. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)	p.Q1490H(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ATTTCTTACCTTGTTCAGAAG	0.483																																																	1	Substitution - Missense(1)	lung(1)											128.0	132.0	131.0					6																	160999556		1993	4196	6189	SO:0001630	splice_region_variant	0			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.4471+1A>T	6.37:g.160999556T>A			Q5VTD7|Q9UD88	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1	p.Q1490H	ENST00000316300.5	37	c.4470	CCDS43523.1	6	.	.	.	.	.	.	.	.	.	.	t	12.71	2.020358	0.35606	.	.	ENSG00000198670	ENST00000316300;ENST00000447678	D;D	0.87334	-2.24;-2.24	2.37	2.37	0.29283	Kringle (1);Kringle-like fold (1);	.	.	.	.	T	0.76941	0.4058	L	0.47716	1.5	0.80722	D	1	P	0.45531	0.86	P	0.48654	0.585	T	0.75025	-0.3463	9	0.41790	T	0.15	.	4.1337	0.10160	0.0:0.1773:0.0:0.8227	.	3998	P08519	APOA_HUMAN	H	1490	ENSP00000321334:Q1490H;ENSP00000395608:Q1490H	ENSP00000321334:Q1490H	Q	-	3	2	LPA	160919546	1.000000	0.71417	0.046000	0.18839	0.088000	0.18126	2.667000	0.46808	1.075000	0.40932	0.147000	0.16070	CAA	LPA	-	superfamily_Kringle-like	ENSG00000198670		0.483	LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPA	HGNC	protein_coding	OTTHUMT00000042957.1		0.00	49	0	T	NM_005577	Missense_Mutation	160999556	-1			no_errors	ENST00000316300	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.154	A
LRIT1	26103	genome.wustl.edu	37	10	85997164	85997164	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr10:85997164C>T	ENST00000372105.3	-	2	422	c.401G>A	c.(400-402)cGg>cAg	p.R134Q		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	134						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GTCCAGCAGCCGCAGCTTGGG	0.731																																																	0													4.0	5.0	5.0					10																	85997164		1845	3593	5438	SO:0001583	missense	0			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.401G>A	10.37:g.85997164C>T	ENSP00000361177:p.Arg134Gln		Q0QD41|Q9Y4N7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R134Q	ENST00000372105.3	37	c.401	CCDS7373.1	10	.	.	.	.	.	.	.	.	.	.	C	22.5	4.302461	0.81136	.	.	ENSG00000148602	ENST00000372105	T	0.55760	0.5	4.93	4.02	0.46733	.	0.122355	0.53938	N	0.000060	T	0.30947	0.0781	N	0.17345	0.48	0.53688	D	0.999978	P	0.40197	0.706	B	0.35413	0.202	T	0.06215	-1.0839	10	0.22706	T	0.39	.	9.7168	0.40278	0.0:0.9004:0.0:0.0995	.	134	Q9P2V4	LRIT1_HUMAN	Q	134	ENSP00000361177:R134Q	ENSP00000361177:R134Q	R	-	2	0	LRIT1	85987144	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.596000	0.54024	1.269000	0.44280	0.655000	0.94253	CGG	LRIT1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000148602		0.731	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT1	HGNC	protein_coding	OTTHUMT00000049109.1	-	0.00	9	0	C	NM_015613		85997164	-1	tier1	-	no_errors	ENST00000372105	ensembl	human	known	74_37	missense	30.43	16	7	SNP	1.000	T
LRRC71	149499	genome.wustl.edu	37	1	156902288	156902288	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:156902288C>T	ENST00000337428.7	+	14	1668	c.1514C>T	c.(1513-1515)gCc>gTc	p.A505V	LRRC71_ENST00000490146.1_3'UTR|ARHGEF11_ENST00000487682.1_5'Flank	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	505										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						TTCTCCAAGGCCAAGAGTGCA	0.597																																																	0													67.0	78.0	75.0					1																	156902288		2147	4266	6413	SO:0001583	missense	0			BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.1514C>T	1.37:g.156902288C>T	ENSP00000336661:p.Ala505Val		Q96M24	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.A505V	ENST00000337428.7	37	c.1514	CCDS44249.1	1	.	.	.	.	.	.	.	.	.	.	C	9.941	1.217482	0.22373	.	.	ENSG00000160838	ENST00000337428	T	0.19394	2.15	5.01	4.08	0.47627	.	1.191030	0.06123	N	0.669202	T	0.04092	0.0114	N	0.19112	0.55	0.23876	N	0.996593	B;B	0.19817	0.039;0.002	B;B	0.19391	0.025;0.005	T	0.24012	-1.0172	10	0.02654	T	1	-1.5002	11.928	0.52831	0.1744:0.8256:0.0:0.0	.	505;291	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	V	505	ENSP00000336661:A505V	ENSP00000336661:A505V	A	+	2	0	LRRC71	155168912	0.009000	0.17119	0.962000	0.40283	0.937000	0.57800	1.291000	0.33330	1.276000	0.44395	0.563000	0.77884	GCC	LRRC71	-	NULL	ENSG00000160838		0.597	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC71	HGNC	protein_coding	OTTHUMT00000098961.1	-	0.00	41	0	C	NM_144702		156902288	+1	tier1	-	no_errors	ENST00000337428	ensembl	human	known	74_37	missense	20.37	43	11	SNP	0.952	T
LRRK2	120892	genome.wustl.edu	37	12	40722188	40722188	+	Missense_Mutation	SNP	C	C	G	rs199762345		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:40722188C>G	ENST00000298910.7	+	39	5741	c.5683C>G	c.(5683-5685)Cga>Gga	p.R1895G		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1895	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.R1895G(1)|p.R1902G(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATCAGTTTACCGAGCAGCCTA	0.313																																																	2	Substitution - Missense(2)	lung(2)											68.0	71.0	70.0					12																	40722188		2203	4300	6503	SO:0001583	missense	0			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5683C>G	12.37:g.40722188C>G	ENSP00000298910:p.Arg1895Gly		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom	p.R1895G	ENST00000298910.7	37	c.5683	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716765	0.68844	.	.	ENSG00000188906	ENST00000298910	D	0.94046	-3.34	5.02	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.060026	0.64402	D	0.000005	D	0.96648	0.8906	M	0.87456	2.885	0.40535	D	0.980969	P;D	0.65815	0.938;0.995	P;D	0.68621	0.648;0.959	D	0.97273	0.9912	10	0.87932	D	0	.	13.5509	0.61732	0.1556:0.8444:0.0:0.0	.	1895;1895	Q17RV3;Q5S007	.;LRRK2_HUMAN	G	1895	ENSP00000298910:R1895G	ENSP00000298910:R1895G	R	+	1	2	LRRK2	39008455	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.627000	0.37050	2.630000	0.89119	0.549000	0.68633	CGA	LRRK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000188906		0.313	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1		0.00	48	0	C	XM_058513		40722188	+1			no_errors	ENST00000298910	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	G
LYSMD3	116068	genome.wustl.edu	37	5	89815283	89815284	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:89815283_89815284delCT	ENST00000315948.6	-	3	417_418	c.273_274delAG	c.(271-276)agagttfs	p.RV91fs	LYSMD3_ENST00000509384.1_Intron|LYSMD3_ENST00000500869.2_Intron	NM_198273.1	NP_938014.1	Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	91						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		AGATTGTTAACTCTCTTGATAT	0.361																																																	0																																										SO:0001589	frameshift_variant	0			BX537972	CCDS43338.1, CCDS68911.1	5q14.3	2010-12-09			ENSG00000176018	ENSG00000176018			26969	protein-coding gene	gene with protein product							Standard	NM_001286812		Approved	FLJ13542	uc003kjr.3	Q7Z3D4	OTTHUMG00000162667	ENST00000315948.6:c.273_274delAG	5.37:g.89815287_89815288delCT	ENSP00000314518:p.Arg91fs		Q5H9U0|Q6PEK0|Q9NTE9	Frame_Shift_Del	DEL	pfam_LysM_dom,smart_LysM_dom	p.R91fs	ENST00000315948.6	37	c.274_273	CCDS43338.1	5																																																																																			LYSMD3	-	pfam_LysM_dom,smart_LysM_dom	ENSG00000176018		0.361	LYSMD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LYSMD3	HGNC	protein_coding	OTTHUMT00000369987.2		0.00	25	0	CT	XM_371760		89815284	-1	tier1		no_errors	ENST00000315948	ensembl	human	known	74_37	frame_shift_del	23.53	39	12	DEL	1.000:0.998	-
MAML3	55534	genome.wustl.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																																	2	Substitution - coding silent(2)	prostate(2)											13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	0			AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T				Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.Q497	ENST00000398940.1	37	c.1491		4																																																																																			MAML3	-	NULL	ENSG00000196782		0.542	MAML3-202	KNOWN	basic	protein_coding	MAML3	HGNC	protein_coding			0.00	29	0	C		Silent	140811099	-1			no_errors	ENST00000509479	ensembl	human	known	74_37	silent	5.26	54	3	SNP	0.995	T
MAP1B	4131	genome.wustl.edu	37	5	71482491	71482491	+	Silent	SNP	C	C	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:71482491C>A	ENST00000296755.7	+	4	718	c.420C>A	c.(418-420)acC>acA	p.T140T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	140					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCGTGCTGACCGGGCAGTGCT	0.517																																					Melanoma(17;367 822 11631 31730 47712)												0													119.0	116.0	117.0					5																	71482491		2203	4300	6503	SO:0001819	synonymous_variant	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.420C>A	5.37:g.71482491C>A			A2BDK5	Silent	SNP	pfam_MAP1B_neuraxin	p.T140	ENST00000296755.7	37	c.420	CCDS4012.1	5																																																																																			MAP1B	-	NULL	ENSG00000131711		0.517	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	-	0.00	43	0	C	NM_005909		71482491	+1	tier1	-	no_errors	ENST00000296755	ensembl	human	known	74_37	silent	7.84	47	4	SNP	0.000	A
MAPK9	5601	genome.wustl.edu	37	5	179668157	179668157	+	Splice_Site	SNP	T	T	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:179668157T>C	ENST00000452135.2	-	9	1170		c.e9-2		MAPK9_ENST00000347470.4_Splice_Site|MAPK9_ENST00000343111.6_Splice_Site|MAPK9_ENST00000393360.3_Splice_Site|MAPK9_ENST00000455781.1_Splice_Site|MAPK9_ENST00000397072.3_Splice_Site|MAPK9_ENST00000524170.1_5'Flank			P45984	MK09_HUMAN	mitogen-activated protein kinase 9						cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGACTTGCTAGGGTGACAA	0.343																																																	0													140.0	144.0	142.0					5																	179668157		2203	4300	6503	SO:0001630	splice_region_variant	0			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.872-2A>G	5.37:g.179668157T>C			A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Splice_Site	SNP	-	e8-2	ENST00000452135.2	37	c.872-2	CCDS4453.1	5	.	.	.	.	.	.	.	.	.	.	T	11.65	1.701913	0.30232	.	.	ENSG00000050748	ENST00000452135;ENST00000393360;ENST00000455781;ENST00000343111;ENST00000347470	.	.	.	5.44	5.44	0.79542	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.0847	0.64949	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	MAPK9	179600763	1.000000	0.71417	0.917000	0.36280	0.110000	0.19582	7.830000	0.86741	2.063000	0.61619	0.528000	0.53228	.	MAPK9	-	-	ENSG00000050748		0.343	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK9	HGNC	protein_coding	OTTHUMT00000253530.3		0.00	22	0	T		Intron	179668157	-1			no_errors	ENST00000452135	ensembl	human	known	74_37	splice_site	5.13	37	2	SNP	1.000	C
MBD4	8930	genome.wustl.edu	37	3	129155548	129155548	+	Frame_Shift_Del	DEL	T	T	-			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:129155548delT	ENST00000249910.1	-	3	1114	c.939delA	c.(937-939)aaafs	p.K313fs	MBD4_ENST00000507208.1_Frame_Shift_Del_p.K313fs|MBD4_ENST00000429544.2_Frame_Shift_Del_p.K313fs|MBD4_ENST00000503197.1_Frame_Shift_Del_p.K313fs|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000509587.1_Intron	NM_003925.1	NP_003916.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	313					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						ATGATCTTTCTTTTTTTTTTA	0.373								Base excision repair (BER), DNA glycosylases																																									0										7,57,4198		0,0,7,1,55,2068	71.0	78.0	76.0			3.4	0.0	3		77	22,69,8159		0,0,22,0,69,4034	no	codingComplex	MBD4	NM_003925.1		0,0,29,1,124,6102	A1A1,A1A2,A1R,A2A2,A2R,RR		1.103,1.5016,1.2388			129155548	29,126,12357	2202	4299	6501	SO:0001589	frameshift_variant	0			AF072250	CCDS3058.1, CCDS63766.1, CCDS63767.1, CCDS63768.1, CCDS63769.1	3q21.3	2004-03-02			ENSG00000129071	ENSG00000129071			6919	protein-coding gene	gene with protein product		603574				9774669, 10097147	Standard	NM_003925		Approved	MED1	uc003emh.2	O95243	OTTHUMG00000159463	ENST00000249910.1:c.939delA	3.37:g.129155548delT	ENSP00000249910:p.Lys313fs		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Frame_Shift_Del	DEL	pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_dom,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd	p.E314fs	ENST00000249910.1	37	c.939	CCDS3058.1	3																																																																																			MBD4	-	pirsf_Me_CpG-bd_MBD4	ENSG00000129071		0.373	MBD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MBD4	HGNC	protein_coding	OTTHUMT00000355529.1		0.00	33	0	T	NM_003925		129155548	-1	tier1		no_errors	ENST00000249910	ensembl	human	known	74_37	frame_shift_del	10.53	34	4	DEL	0.059	-
MDFIC	29969	genome.wustl.edu	37	7	114582414	114582414	+	Missense_Mutation	SNP	C	C	G	rs145872153	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:114582414C>G	ENST00000393486.1	+	3	769	c.179C>G	c.(178-180)tCc>tGc	p.S60C	MDFIC_ENST00000257724.3_Missense_Mutation_p.S169C	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1			MyoD family inhibitor domain containing											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CAAGACCAGTCCATTTGGGGA	0.338																																																	0													74.0	73.0	73.0					7																	114582414		2203	4300	6503	SO:0001583	missense	0			AF054589	CCDS34737.1, CCDS55155.1	7q31.1-q31.2	2006-01-11			ENSG00000135272	ENSG00000135272			28870	protein-coding gene	gene with protein product		614511				10671520	Standard	NM_199072		Approved	HIC	uc003vhf.3	Q9P1T7	OTTHUMG00000023647	ENST00000393486.1:c.179C>G	7.37:g.114582414C>G	ENSP00000377126:p.Ser60Cys			Missense_Mutation	SNP	NULL	p.S60C	ENST00000393486.1	37	c.179	CCDS55155.1	7	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965982	0.53507	.	.	ENSG00000135272	ENST00000257724;ENST00000393486;ENST00000427207;ENST00000498196	.	.	.	5.73	3.93	0.45458	.	0.565722	0.18219	N	0.147953	T	0.67468	0.2896	M	0.69823	2.125	0.80722	D	1	D	0.67145	0.996	P	0.56216	0.794	T	0.68845	-0.5301	9	0.72032	D	0.01	-17.1792	10.2817	0.43543	0.0:0.844:0.0:0.156	.	60	Q9P1T7	MDFIC_HUMAN	C	169;60;46;5	.	ENSP00000257724:S169C	S	+	2	0	MDFIC	114369650	0.751000	0.28327	0.994000	0.49952	0.466000	0.32739	2.777000	0.47717	0.889000	0.36185	0.655000	0.94253	TCC	MDFIC	-	NULL	ENSG00000135272		0.338	MDFIC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDFIC	HGNC	protein_coding	OTTHUMT00000059968.4	-	0.00	52	0	C	NM_199072		114582414	+1	tier1	-	no_errors	ENST00000393486	ensembl	human	known	74_37	missense	19.75	65	16	SNP	0.988	G
MED12L	116931	genome.wustl.edu	37	3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggcfs	p.G335fs	MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCAGCCCTGGCCCCCCCGGCC	0.582																																																	0													83.0	94.0	90.0					3																	150877786		2203	4300	6503	SO:0001589	frameshift_variant	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.1005delC	3.37:g.150877786delC	ENSP00000417235:p.Gly335fs		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Frame_Shift_Del	DEL	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.G338fs	ENST00000474524.1	37	c.1005	CCDS33876.1	3																																																																																			MED12L	-	pfam_Mediator_Med12_LCEWAV	ENSG00000144893		0.582	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2		0.00	41	0	C	NM_053002		150877786	+1	tier1		no_errors	ENST00000474524	ensembl	human	known	74_37	frame_shift_del	6.38	44	3	DEL	0.269	-
MED24	9862	genome.wustl.edu	37	17	38189432	38189432	+	Silent	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:38189432C>T	ENST00000394128.2	-	8	780	c.699G>A	c.(697-699)gcG>gcA	p.A233A	MED24_ENST00000394127.2_Silent_p.A220A|MED24_ENST00000356271.3_Silent_p.A220A|MED24_ENST00000501516.3_Silent_p.A252A|MED24_ENST00000394126.1_Silent_p.A258A|MED24_ENST00000479829.1_5'Flank	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	233					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GCATCTGCTCCGCATGCACAG	0.637																																																	0													61.0	54.0	56.0					17																	38189432		2203	4300	6503	SO:0001819	synonymous_variant	0			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.699G>A	17.37:g.38189432C>T			A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	pfam_Mediator_Med24_N	p.A233	ENST00000394128.2	37	c.699	CCDS11359.1	17																																																																																			MED24	-	pfam_Mediator_Med24_N	ENSG00000008838		0.637	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	HGNC	protein_coding	OTTHUMT00000257147.2	-	0.00	30	0	C	NM_014815		38189432	-1	tier1	-	no_errors	ENST00000394128	ensembl	human	known	74_37	silent	48.81	43	41	SNP	0.001	T
METTL9	51108	genome.wustl.edu	37	16	21623996	21623996	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr16:21623996G>A	ENST00000358154.3	+	2	454	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	METTL9_ENST00000396014.4_Missense_Mutation_p.E66K	NM_001077180.1|NM_016025.3	NP_001070648.1|NP_057109.3	Q9H1A3	METL9_HUMAN	methyltransferase like 9	66										endometrium(1)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)	7				GBM - Glioblastoma multiforme(48;0.0759)		GAAATTATGCGAATCACTCCA	0.348																																																	0													138.0	123.0	128.0					16																	21623996		2199	4300	6499	SO:0001583	missense	0			NM_016025, AF151839	CCDS10598.2, CCDS45440.1	16p12.2	2008-11-06			ENSG00000197006	ENSG00000197006			24586	protein-coding gene	gene with protein product	"""DORA reverse strand protein 1"""	609388				10810093, 11132146	Standard	NM_001077180		Approved	DREV1	uc002dje.3	Q9H1A3	OTTHUMG00000131584	ENST00000358154.3:c.196G>A	16.37:g.21623996G>A	ENSP00000350874:p.Glu66Lys		Q8NBT8|Q9BWJ7|Q9H1A2|Q9Y390	Missense_Mutation	SNP	pfam_DREV_MeTrfase,pfam_Methyltransf_12,pfam_Methyltransf_11	p.E66K	ENST00000358154.3	37	c.196	CCDS10598.2	16	.	.	.	.	.	.	.	.	.	.	G	26.3	4.726455	0.89298	.	.	ENSG00000197006	ENST00000358154;ENST00000396014;ENST00000540294	.	.	.	6.02	6.02	0.97574	.	0.084176	0.85682	D	0.000000	T	0.56031	0.1958	L	0.39397	1.21	0.58432	D	0.999998	P;P	0.52061	0.876;0.95	B;P	0.46585	0.176;0.521	T	0.49707	-0.8911	9	0.28530	T	0.3	-14.7763	18.0345	0.89296	0.0:0.0:1.0:0.0	.	66;66	Q9H1A3-2;Q9H1A3	.;METL9_HUMAN	K	66;66;30	.	ENSP00000350874:E66K	E	+	1	0	METTL9	21531497	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	8.866000	0.92307	2.865000	0.98341	0.655000	0.94253	GAA	METTL9	-	pfam_DREV_MeTrfase	ENSG00000197006		0.348	METTL9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	METTL9	HGNC	protein_coding	OTTHUMT00000254465.1	-	0.00	49	0	G	NM_016025		21623996	+1	tier1	-	no_errors	ENST00000358154	ensembl	human	known	74_37	missense	26.67	44	16	SNP	1.000	A
MGAT4C	25834	genome.wustl.edu	37	12	86373909	86373909	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:86373909G>T	ENST00000604798.1	-	8	1799	c.595C>A	c.(595-597)Cgt>Agt	p.R199S	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R199S|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R199S|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R228S|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R199S|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R199S			Q9UBM8	MGT4C_HUMAN	MGAT4 family, member C	199					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0008454)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCTTGGAACGAAATTTGACT	0.338																																																	0													101.0	103.0	102.0					12																	86373909		2203	4300	6503	SO:0001583	missense	0				CCDS9030.1	12q21	2014-07-14	2014-07-14		ENSG00000182050	ENSG00000182050		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	30871	protein-coding gene	gene with protein product		607385	"""mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)"""			10570912	Standard	NM_013244		Approved	HGNT-IV-H	uc001tal.4	Q9UBM8	OTTHUMG00000169846	ENST00000604798.1:c.595C>A	12.37:g.86373909G>T	ENSP00000474896:p.Arg199Ser		B4DRH2|Q4G199|Q9UIU5	Missense_Mutation	SNP	pfam_Glyco_transf_54,superfamily_LSM_dom	p.R228S	ENST00000604798.1	37	c.682	CCDS9030.1	12	.	.	.	.	.	.	.	.	.	.	G	12.35	1.912125	0.33721	.	.	ENSG00000182050	ENST00000332156;ENST00000393205;ENST00000549405;ENST00000550460;ENST00000552808;ENST00000548651;ENST00000547225	T;T;T;T;T;T	0.54071	0.59;0.59;0.59;0.59;0.59;0.59	5.49	5.49	0.81192	.	0.122041	0.53938	D	0.000057	T	0.77150	0.4088	M	0.90483	3.12	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81342	-0.0976	10	0.72032	D	0.01	-22.3009	14.5768	0.68255	0.0:0.0:0.8539:0.1461	.	228;199	B4DRH2;Q9UBM8	.;MGT4C_HUMAN	S	199;228;199;199;199;199;199	ENSP00000331664:R199S;ENSP00000376900:R228S;ENSP00000449022:R199S;ENSP00000446647:R199S;ENSP00000447253:R199S;ENSP00000449172:R199S	ENSP00000331664:R199S	R	-	1	0	MGAT4C	84898040	1.000000	0.71417	1.000000	0.80357	0.011000	0.07611	4.550000	0.60733	2.722000	0.93159	0.655000	0.94253	CGT	MGAT4C	-	pfam_Glyco_transf_54	ENSG00000182050		0.338	MGAT4C-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT4C	HGNC	protein_coding	OTTHUMT00000406212.2		0.00	33	0	G	NM_013244		86373909	-1			no_errors	ENST00000393205	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T
GLIDR	389741	genome.wustl.edu	37	9	66553833	66553833	+	lincRNA	SNP	A	A	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:66553833A>C	ENST00000305709.5	+	0	446				RP11-262H14.3_ENST00000445604.2_lincRNA	NR_015363.1																						GGAGCGATTAAGTGCAGACCT	0.637																																																	0																																												0																															9.37:g.66553833A>C				RNA	SNP	-	NULL	ENST00000305709.5	37	NULL		9	.	.	.	.	.	.	.	.	.	.	.	3.714	-0.058947	0.07317	.	.	ENSG00000170161	ENST00000305709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Y	95	.	.	X	+	3	2	RP11-262H14.4	66293653	0.002000	0.14202	0.054000	0.19295	0.055000	0.15305	-0.948000	0.03897	0.129000	0.18514	0.128000	0.15822	TAA	RP11-262H14.4	-	-	ENSG00000170161		0.637	RP11-262H14.4-001	KNOWN	basic	lincRNA	MGC21881	Clone_based_vega_gene	lincRNA	OTTHUMT00000037077.1	-	0.00	195	0	A			66553833	+1	tier1	-	no_errors	ENST00000305709	ensembl	human	known	74_37	rna	6.69	265	19	SNP	0.062	C
MOG	4340	genome.wustl.edu	37	6	29638954	29638954	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:29638954C>A	ENST00000376917.3	+	8	965	c.736C>A	c.(736-738)Ccc>Acc	p.P246T	MOG_ENST00000494692.1_Intron|MOG_ENST00000416766.2_Missense_Mutation_p.P208T|MOG_ENST00000396701.2_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000483013.1_Missense_Mutation_p.P91T|MOG_ENST00000431798.2_Missense_Mutation_p.P207T|MOG_ENST00000490427.1_Missense_Mutation_p.P107T|MOG_ENST00000376894.4_3'UTR|MOG_ENST00000376902.3_3'UTR|MOG_ENST00000376888.2_Missense_Mutation_p.P130T|MOG_ENST00000533330.2_Intron|MOG_ENST00000376898.3_Intron|MOG_ENST00000396704.3_Missense_Mutation_p.P223T	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	246					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TCTAGGAAATCCCTTCTGAGT	0.453																																																	0													120.0	126.0	124.0					6																	29638954		1510	2709	4219	SO:0001583	missense	0				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.736C>A	6.37:g.29638954C>A	ENSP00000366115:p.Pro246Thr		A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	pirsf_Myelin-oligodendrocyte_glycop,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.P246T	ENST00000376917.3	37	c.736	CCDS34370.1	6	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189726	0.57909	.	.	ENSG00000204655	ENST00000376917;ENST00000376888;ENST00000483013;ENST00000490427;ENST00000416766;ENST00000431798;ENST00000396704	T;T;T;T;T;T;T	0.36157	3.27;1.27;1.45;1.35;3.01;3.49;3.34	4.9	4.9	0.64082	.	.	.	.	.	T	0.44159	0.1280	L	0.40543	1.245	0.80722	D	1	D;D;D;P;D;D;D	0.89917	1.0;1.0;1.0;0.728;1.0;0.999;1.0	D;D;D;B;D;D;D	0.87578	0.998;0.998;0.997;0.272;0.998;0.991;0.998	T	0.40232	-0.9574	9	0.87932	D	0	.	15.9586	0.79910	0.0:1.0:0.0:0.0	.	91;107;176;207;223;246;130	E9PG44;E9PGF0;B7Z2X8;Q16653-2;Q16653-3;Q16653;Q16653-4	.;.;.;.;.;MOG_HUMAN;.	T	246;130;91;107;208;207;223	ENSP00000366115:P246T;ENSP00000366085:P130T;ENSP00000418090:P91T;ENSP00000420350:P107T;ENSP00000409394:P208T;ENSP00000410866:P207T;ENSP00000379932:P223T	ENSP00000366085:P130T	P	+	1	0	MOG	29746933	1.000000	0.71417	0.999000	0.59377	0.370000	0.29829	3.502000	0.53332	2.710000	0.92621	0.557000	0.71058	CCC	MOG	-	pirsf_Myelin-oligodendrocyte_glycop	ENSG00000204655		0.453	MOG-001	KNOWN	basic|CCDS	protein_coding	MOG	HGNC	protein_coding	OTTHUMT00000076160.3	-	0.00	44	0	C	NM_002433		29638954	+1	tier1	-	no_errors	ENST00000376917	ensembl	human	known	74_37	missense	25.56	67	23	SNP	1.000	A
MOSPD2	158747	genome.wustl.edu	37	X	14933839	14933839	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chrX:14933839G>T	ENST00000380492.3	+	12	1227	c.1139G>T	c.(1138-1140)aGc>aTc	p.S380I	MOSPD2_ENST00000482354.1_Missense_Mutation_p.S380I|MOSPD2_ENST00000495110.1_3'UTR	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	380	MSP. {ECO:0000255|PROSITE- ProRule:PRU00132}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AGCAATAGCAGCTGTGACCCG	0.483																																																	0													121.0	122.0	122.0					X																	14933839		2203	4300	6503	SO:0001583	missense	0			AL834345	CCDS14162.1	Xp22.31	2006-03-16			ENSG00000130150	ENSG00000130150			28381	protein-coding gene	gene with protein product						15533722	Standard	NM_152581		Approved	MGC26706	uc004cwi.3	Q8NHP6	OTTHUMG00000021170	ENST00000380492.3:c.1139G>T	X.37:g.14933839G>T	ENSP00000369860:p.Ser380Ile		Q8N3H2|Q8NA83	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom	p.S380I	ENST00000380492.3	37	c.1139	CCDS14162.1	X	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424077	0.83667	.	.	ENSG00000130150	ENST00000380492	T	0.68025	-0.3	6.03	5.16	0.70880	PapD-like (2);	0.201428	0.64402	D	0.000012	T	0.62841	0.2461	N	0.11255	0.115	0.51012	D	0.999908	D	0.59357	0.985	P	0.60415	0.874	T	0.61700	-0.7009	10	0.19147	T	0.46	.	16.0572	0.80814	0.0:0.1308:0.8692:0.0	.	380	Q8NHP6	MSPD2_HUMAN	I	380	ENSP00000369860:S380I	ENSP00000369860:S380I	S	+	2	0	MOSPD2	14843760	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.386000	0.79775	1.285000	0.44548	0.600000	0.82982	AGC	MOSPD2	-	pfam_MSP_dom,superfamily_PapD-like,pfscan_MSP_dom	ENSG00000130150		0.483	MOSPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOSPD2	HGNC	protein_coding	OTTHUMT00000055837.1		0.00	50	0	G	NM_152581		14933839	+1			no_errors	ENST00000380492	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
MRPL4	51073	genome.wustl.edu	37	19	10367465	10367465	+	Silent	SNP	C	C	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:10367465C>A	ENST00000253099.6	+	5	696	c.409C>A	c.(409-411)Cgg>Agg	p.R137R	CTD-2369P2.4_ENST00000587088.1_RNA|MRPL4_ENST00000590669.1_Silent_p.R137R|MRPL4_ENST00000307422.5_Silent_p.R137R|MRPL4_ENST00000393733.2_Silent_p.R137R|MRPL4_ENST00000588502.1_Silent_p.R136R|CTD-2369P2.5_ENST00000592893.1_RNA	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	137					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TGGGCGGGCCCGGCATGGCAG	0.687																																																	0													36.0	41.0	39.0					19																	10367465		2201	4297	6498	SO:0001819	synonymous_variant	0			AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400	ENST00000253099.6:c.409C>A	19.37:g.10367465C>A			A6NNV7|Q9BW07|Q9H4N2|Q9Y317	Silent	SNP	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type	p.R137	ENST00000253099.6	37	c.409	CCDS12230.1	19																																																																																			MRPL4	-	pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom,tigrfam_Ribosomal_L4/L1e_bac-type	ENSG00000105364		0.687	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL4	HGNC	protein_coding	OTTHUMT00000451197.1	-	0.00	61	0	C			10367465	+1	tier1	-	no_errors	ENST00000253099	ensembl	human	known	74_37	silent	29.76	59	25	SNP	0.998	A
MRPS14	63931	genome.wustl.edu	37	1	174983880	174983880	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:174983880C>A	ENST00000476371.1	-	3	328	c.312G>T	c.(310-312)tgG>tgT	p.W104C	MRPS14_ENST00000498253.1_5'UTR	NM_022100.2	NP_071383.1			mitochondrial ribosomal protein S14											large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						GACTAAGCCTCCAGCGCCGCT	0.527																																																	0													138.0	130.0	133.0					1																	174983880		2203	4300	6503	SO:0001583	missense	0			AB051350	CCDS1316.1	1q25.1	2012-09-13			ENSG00000120333	ENSG00000120333		"""Mitochondrial ribosomal proteins / small subunits"""	14049	protein-coding gene	gene with protein product		611978					Standard	NR_037606		Approved	HSMRPS14	uc001gkk.3	O60783	OTTHUMG00000034878	ENST00000476371.1:c.312G>T	1.37:g.174983880C>A	ENSP00000420714:p.Trp104Cys			Missense_Mutation	SNP	pfam_Ribosomal_S14	p.W104C	ENST00000476371.1	37	c.312	CCDS1316.1	1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450630	0.84101	.	.	ENSG00000120333	ENST00000476371	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.74321	0.3701	L	0.53249	1.67	0.80722	D	1	B	0.31893	0.345	B	0.43728	0.429	T	0.72327	-0.4327	9	0.87932	D	0	-13.4543	20.8794	0.99867	0.0:1.0:0.0:0.0	.	104	O60783	RT14_HUMAN	C	104	.	ENSP00000420714:W104C	W	-	3	0	MRPS14	173250503	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.629000	0.83207	2.941000	0.99782	0.655000	0.94253	TGG	MRPS14	-	pfam_Ribosomal_S14	ENSG00000120333		0.527	MRPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS14	HGNC	protein_coding	OTTHUMT00000084416.2	-	0.00	36	0	C	NM_022100		174983880	-1	tier1	-	no_errors	ENST00000476371	ensembl	human	known	74_37	missense	11.54	69	9	SNP	1.000	A
MUC16	94025	genome.wustl.edu	37	19	8961961	8961961	+	Nonsense_Mutation	SNP	G	G	T	rs189237583	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:8961961G>T	ENST00000397910.4	-	83	43619	c.43416C>A	c.(43414-43416)tgC>tgA	p.C14472*	MUC16_ENST00000380951.5_Nonsense_Mutation_p.C1113*	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	22117	SEA 16. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCAGGACACCGCAGATCAGGC	0.493																																																	0													63.0	62.0	62.0					19																	8961961		1967	4162	6129	SO:0001587	stop_gained	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.43416C>A	19.37:g.8961961G>T	ENSP00000381008:p.Cys14472*		Q6ZQW5|Q96RK2	Nonsense_Mutation	SNP	pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom	p.C14472*	ENST00000397910.4	37	c.43416	CCDS54212.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.0|27.0	4.792302|4.792302	0.90453|0.90453	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000542240|ENST00000397910;ENST00000380951	.|.	.|.	.|.	4.6|4.6	2.47|2.47	0.30058|0.30058	.|.	.|.	.|.	.|.	.|.	T|.	0.16938|.	0.0407|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.32455|.	-0.9906|.	3|.	.|0.02654	.|T	.|1	.|.	7.5219|7.5219	0.27633|0.27633	0.1937:0.0:0.8063:0.0|0.1937:0.0:0.8063:0.0	.|.	.|.	.|.	.|.	E|X	1295|14472;1113	.|.	.|ENSP00000370338:C1113X	A|C	-|-	2|3	0|2	MUC16|MUC16	8822961|8822961	0.813000|0.813000	0.29090|0.29090	0.014000|0.014000	0.15608|0.15608	0.000000|0.000000	0.00434|0.00434	1.193000|1.193000	0.32162|0.32162	0.692000|0.692000	0.31613|0.31613	-1.058000|-1.058000	0.02302|0.02302	GCG|TGC	MUC16	-	NULL	ENSG00000181143		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1		0.00	38	0	G	NM_024690		8961961	-1			no_errors	ENST00000397910	ensembl	human	known	74_37	nonsense	5.00	38	2	SNP	0.008	T
MYBPC1	4604	genome.wustl.edu	37	12	102061599	102061599	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:102061599C>T	ENST00000550270.1	+	22	2425	c.2425C>T	c.(2425-2427)Cgt>Tgt	p.R809C	MYBPC1_ENST00000536007.1_Missense_Mutation_p.R772C|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R809C|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R777C|MYBPC1_ENST00000549145.1_Missense_Mutation_p.R822C|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R816C|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R692C|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R779C|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R791C|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R809C|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R809C|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R778C|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R816C|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R765C|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R791C			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	809	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.R816C(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GATCTTTGTGCGTGTGAAGGC	0.468																																																	1	Substitution - Missense(1)	large_intestine(1)											107.0	91.0	96.0					12																	102061599		2203	4300	6503	SO:0001583	missense	0				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.2425C>T	12.37:g.102061599C>T	ENSP00000449702:p.Arg809Cys		B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.R816C	ENST00000550270.1	37	c.2446	CCDS9085.1	12	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412318	0.62511	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15;0.15	5.73	4.77	0.60923	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.48767	D	0.000172	T	0.76637	0.4015	M	0.82923	2.615	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.994;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;0.932;0.999;1.0;0.999;1.0;0.978;0.999	T	0.79783	-0.1658	10	0.87932	D	0	.	13.4713	0.61283	0.266:0.734:0.0:0.0	.	772;779;809;791;778;765;791;809;816;816	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	C	765;809;809;809;778;777;816;822;791;791;772;779;816;692;809	ENSP00000448175:R765C;ENSP00000400908:R809C;ENSP00000388989:R809C;ENSP00000353822:R809C;ENSP00000376665:R778C;ENSP00000447362:R777C;ENSP00000354845:R816C;ENSP00000447660:R822C;ENSP00000447900:R791C;ENSP00000440034:R791C;ENSP00000446128:R772C;ENSP00000442847:R779C;ENSP00000354849:R816C;ENSP00000447116:R692C;ENSP00000449702:R809C	ENSP00000353822:R809C	R	+	1	0	MYBPC1	100585730	1.000000	0.71417	0.997000	0.53966	0.718000	0.41266	3.046000	0.49846	2.699000	0.92147	0.650000	0.86243	CGT	MYBPC1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000196091		0.468	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYBPC1	HGNC	protein_coding	OTTHUMT00000408806.1		0.00	32	0	C			102061599	+1			no_errors	ENST00000361466	ensembl	human	known	74_37	missense	8.82	31	3	SNP	0.997	T
MYCBP2	23077	genome.wustl.edu	37	13	77738652	77738652	+	Missense_Mutation	SNP	A	A	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr13:77738652A>T	ENST00000544440.2	-	43	6387	c.6370T>A	c.(6370-6372)Tta>Ata	p.L2124I	MYCBP2_ENST00000357337.6_Missense_Mutation_p.L2124I|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000407578.2_Missense_Mutation_p.L2162I					MYC binding protein 2, E3 ubiquitin protein ligase											NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGATTGGCTAATTCTTTTTCC	0.373																																																	0													94.0	88.0	90.0					13																	77738652		2203	4300	6503	SO:0001583	missense	0			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.6370T>A	13.37:g.77738652A>T	ENSP00000444596:p.Leu2124Ile			Missense_Mutation	SNP	pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.L2162I	ENST00000544440.2	37	c.6484		13	.	.	.	.	.	.	.	.	.	.	A	17.11	3.306710	0.60305	.	.	ENSG00000005810	ENST00000357337;ENST00000407578;ENST00000544440	T;T;T	0.57436	0.41;0.4;0.41	5.62	0.264	0.15607	.	0.000000	0.64402	D	0.000002	T	0.63260	0.2496	M	0.69358	2.11	0.39859	D	0.973343	P	0.52842	0.956	P	0.62184	0.899	T	0.62909	-0.6754	10	0.49607	T	0.09	.	10.8322	0.46667	0.565:0.0:0.435:0.0	.	2124	O75592	MYCB2_HUMAN	I	2124;2162;2124	ENSP00000349892:L2124I;ENSP00000384288:L2162I;ENSP00000444596:L2124I	ENSP00000349892:L2124I	L	-	1	2	MYCBP2	76636653	0.999000	0.42202	0.997000	0.53966	0.984000	0.73092	0.671000	0.25172	-0.090000	0.12462	-0.263000	0.10527	TTA	MYCBP2	-	superfamily_ARM-type_fold	ENSG00000005810		0.373	MYCBP2-001	KNOWN	basic	protein_coding	MYCBP2	HGNC	protein_coding	OTTHUMT00000045326.1		0.00	59	0	A	NM_015057		77738652	-1			no_errors	ENST00000407578	ensembl	human	known	74_37	missense	6.76	69	5	SNP	0.997	T
MYOM3	127294	genome.wustl.edu	37	1	24421447	24421447	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:24421447G>A	ENST00000374434.3	-	9	986	c.824C>T	c.(823-825)tCg>tTg	p.S275L	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Missense_Mutation_p.S276L|MYOM3_ENST00000329601.7_Missense_Mutation_p.S275L	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	275	Ig-like C2-type 2.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTCAGCACCGAGGTGAATTC	0.537																																																	0													53.0	54.0	54.0					1																	24421447		1939	4132	6071	SO:0001583	missense	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.824C>T	1.37:g.24421447G>A	ENSP00000363557:p.Ser275Leu		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S276L	ENST00000374434.3	37	c.827	CCDS41281.1	1	.	.	.	.	.	.	.	.	.	.	G	14.52	2.560761	0.45590	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.67523	-0.27;-0.27;-0.27	5.18	5.18	0.71444	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.511378	0.20145	N	0.098281	T	0.73329	0.3573	M	0.64997	1.995	0.28496	N	0.914237	P;D	0.56521	0.898;0.976	B;P	0.53760	0.424;0.734	T	0.68577	-0.5372	10	0.32370	T	0.25	.	15.6174	0.76778	0.0:0.0:1.0:0.0	.	275;275	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	L	275;276;275	ENSP00000363557:S275L;ENSP00000332670:S276L;ENSP00000328415:S275L	ENSP00000328415:S275L	S	-	2	0	MYOM3	24294034	0.862000	0.29867	0.876000	0.34364	0.202000	0.24057	2.566000	0.45948	2.406000	0.81754	0.557000	0.71058	TCG	MYOM3	-	pfam_Ig_I-set,pfscan_Ig-like_dom	ENSG00000142661		0.537	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	-	0.00	35	0	G	NM_152372		24421447	-1	tier1	-	no_errors	ENST00000330966	ensembl	human	known	74_37	missense	18.64	48	11	SNP	0.622	A
MYPN	84665	genome.wustl.edu	37	10	69882003	69882003	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr10:69882003C>T	ENST00000358913.5	+	2	1296	c.808C>T	c.(808-810)Cgg>Tgg	p.R270W	MYPN_ENST00000540630.1_Missense_Mutation_p.R270W|MYPN_ENST00000373675.3_Missense_Mutation_p.R270W|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	270	Ig-like 1.|Interaction with CARP.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)	p.R270W(1)		breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GCAACCTCCCCGGTTCACTCA	0.517																																																	1	Substitution - Missense(1)	lung(1)											57.0	62.0	60.0					10																	69882003		2203	4300	6503	SO:0001583	missense	0			AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.808C>T	10.37:g.69882003C>T	ENSP00000351790:p.Arg270Trp		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R270W	ENST00000358913.5	37	c.808	CCDS7275.1	10	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476828	0.63849	.	.	ENSG00000138347	ENST00000358913;ENST00000540630;ENST00000373675	T;T;T	0.68624	-0.34;-0.34;-0.34	5.74	4.82	0.62117	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.264275	0.38605	N	0.001624	T	0.78444	0.4284	M	0.66560	2.04	0.39962	D	0.974673	D;D	0.89917	1.0;0.999	P;D	0.68765	0.878;0.96	T	0.79743	-0.1675	9	.	.	.	.	13.6836	0.62502	0.2807:0.7193:0.0:0.0	.	270;270	Q86TC9-3;Q86TC9	.;MYPN_HUMAN	W	270	ENSP00000351790:R270W;ENSP00000441668:R270W;ENSP00000362779:R270W	.	R	+	1	2	MYPN	69552009	0.864000	0.29904	1.000000	0.80357	0.999000	0.98932	2.764000	0.47613	1.355000	0.45865	0.655000	0.94253	CGG	MYPN	-	pfam_Ig_I-set,pfscan_Ig-like_dom	ENSG00000138347		0.517	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYPN	HGNC	protein_coding	OTTHUMT00000048307.1		0.00	20	0	C	NM_032578		69882003	+1			no_errors	ENST00000358913	ensembl	human	known	74_37	missense	5.88	48	3	SNP	0.988	T
NAIP	4671	genome.wustl.edu	37	5	70308438	70308438	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:70308438A>G	ENST00000517649.1	-	4	595	c.305T>C	c.(304-306)cTa>cCa	p.L102P	NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.L102P|NAIP_ENST00000508426.2_Missense_Mutation_p.L102P	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	102					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AAAGAGGATTAGGCTACAGCA	0.493																																																	0													87.0	79.0	82.0					5																	70308438		2202	4296	6498	SO:0001583	missense	0			U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.305T>C	5.37:g.70308438A>G	ENSP00000428657:p.Leu102Pro		B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	pfam_BIR,superfamily_P-loop_NTPase,smart_BIR,smart_AAA+_ATPase,pfscan_NACHT_NTPase,pfscan_BIR	p.L102P	ENST00000517649.1	37	c.305	CCDS4009.1	5	.	.	.	.	.	.	.	.	.	.	a	10.88	1.475815	0.26511	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.73681	-0.77;-0.77;-0.77	3.26	3.26	0.37387	Baculoviral inhibition of apoptosis protein repeat (5);	1.251010	0.06506	N	0.737157	D	0.88702	0.6508	M	0.90198	3.095	0.48975	D	0.999731	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.82645	-0.0355	10	0.51188	T	0.08	.	11.4969	0.50413	1.0:0.0:0.0:0.0	.	102;102	E7EQW0;Q13075	.;BIRC1_HUMAN	P	102	ENSP00000428657:L102P;ENSP00000443944:L102P;ENSP00000429545:L102P	ENSP00000443944:L102P	L	-	2	0	NAIP	70344194	0.008000	0.16893	0.927000	0.36925	0.063000	0.16089	1.169000	0.31871	1.722000	0.51474	0.358000	0.22013	CTA	NAIP	-	pfam_BIR,smart_BIR,pfscan_BIR	ENSG00000249437		0.493	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIP	HGNC	protein_coding	OTTHUMT00000372649.6	-	0.00	52	0	A	NM_004536		70308438	-1	tier1	-	no_errors	ENST00000194097	ensembl	human	known	74_37	missense	6.49	72	5	SNP	0.708	G
NBEA	26960	genome.wustl.edu	37	13	35751188	35751188	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr13:35751188T>C	ENST00000400445.3	+	28	5144	c.4610T>C	c.(4609-4611)cTt>cCt	p.L1537P	NBEA_ENST00000540320.1_Missense_Mutation_p.L1537P|NBEA_ENST00000310336.4_Missense_Mutation_p.L1537P|NBEA_ENST00000379939.2_Missense_Mutation_p.L1534P	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	1537					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CCGGATAGACTTCTTCAGGAT	0.358																																																	0													142.0	124.0	129.0					13																	35751188		1841	4093	5934	SO:0001583	missense	0			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.4610T>C	13.37:g.35751188T>C	ENSP00000383295:p.Leu1537Pro		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.L1537P	ENST00000400445.3	37	c.4610	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	T	17.74	3.463550	0.63513	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.84556	0.5498	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	0.998;1.0	P;D	0.76071	0.896;0.987	D	0.85784	0.1363	10	0.62326	D	0.03	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1537;1534	Q8NFP9;Q5T321	NBEA_HUMAN;.	P	1537;1537;1534;1537;196	ENSP00000440951:L1537P;ENSP00000383295:L1537P;ENSP00000369271:L1534P;ENSP00000308534:L1537P	ENSP00000308534:L1537P	L	+	2	0	NBEA	34649188	1.000000	0.71417	0.963000	0.40424	0.161000	0.22273	7.948000	0.87774	2.371000	0.80710	0.533000	0.62120	CTT	NBEA	-	NULL	ENSG00000172915		0.358	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		-	0.00	57	0	T	NM_015678		35751188	+1	tier1	-	no_errors	ENST00000310336	ensembl	human	known	74_37	missense	19.39	77	19	SNP	1.000	C
NALCN	259232	genome.wustl.edu	37	13	101714386	101714386	+	Silent	SNP	T	T	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr13:101714386T>A	ENST00000251127.6	-	41	4770	c.4689A>T	c.(4687-4689)atA>atT	p.I1563I	NALCN-AS1_ENST00000457843.1_RNA	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1563					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CCTCCTCCTCTATGGTGTACT	0.582																																																	0													125.0	89.0	101.0					13																	101714386		2203	4300	6503	SO:0001819	synonymous_variant	0			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.4689A>T	13.37:g.101714386T>A			Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.I1563	ENST00000251127.6	37	c.4689	CCDS9498.1	13																																																																																			NALCN	-	NULL	ENSG00000102452		0.582	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	-	0.00	34	0	T	NM_052867		101714386	-1	tier1	-	no_errors	ENST00000251127	ensembl	human	known	74_37	silent	17.31	43	9	SNP	0.853	A
NCBP1	4686	genome.wustl.edu	37	9	100416157	100416157	+	Silent	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:100416157G>A	ENST00000375147.3	+	11	1393	c.1137G>A	c.(1135-1137)ctG>ctA	p.L379L		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	379					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TCATTGAACTGTGCAAACTTC	0.378																																					Ovarian(36;879 898 2893 44212 50307)												0													187.0	173.0	178.0					9																	100416157		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1137G>A	9.37:g.100416157G>A			B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.L379	ENST00000375147.3	37	c.1137	CCDS6728.1	9																																																																																			NCBP1	-	pfam_MIF4G-like_typ-1,superfamily_ARM-type_fold	ENSG00000136937		0.378	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCBP1	HGNC	protein_coding	OTTHUMT00000053337.1	-	0.00	45	0	G	NM_002486		100416157	+1	tier1	-	no_errors	ENST00000375147	ensembl	human	known	74_37	silent	5.41	69	4	SNP	0.967	A
NOTCH3	4854	genome.wustl.edu	37	19	15298067	15298067	+	Silent	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:15298067G>A	ENST00000263388.2	-	11	1764	c.1689C>T	c.(1687-1689)atC>atT	p.I563I		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	563	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			AGAAGCTGGCGATGCCATCCA	0.647																																																	0													74.0	62.0	66.0					19																	15298067		2203	4300	6503	SO:0001819	synonymous_variant	0			U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.1689C>T	19.37:g.15298067G>A			Q9UEB3|Q9UPL3|Q9Y6L8	Silent	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.I563	ENST00000263388.2	37	c.1689	CCDS12326.1	19																																																																																			NOTCH3	-	pirsf_Notch,pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000074181		0.647	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH3	HGNC	protein_coding	OTTHUMT00000465714.1	-	0.00	30	0	G	NM_000435		15298067	-1	tier1	-	no_errors	ENST00000263388	ensembl	human	known	74_37	silent	17.19	53	11	SNP	0.984	A
NCCRP1	342897	genome.wustl.edu	37	19	39691112	39691112	+	Silent	SNP	C	C	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:39691112C>A	ENST00000339852.4	+	5	697	c.675C>A	c.(673-675)ggC>ggA	p.G225G		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	225	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GACCCCCTGGCCGCTGGGTCC	0.672																																					Melanoma(107;1207 1556 14956 29427 52130)												0													47.0	56.0	53.0					19																	39691112		2203	4299	6502	SO:0001819	synonymous_variant	0			AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.675C>A	19.37:g.39691112C>A			Q6NVV5	Silent	SNP	pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom	p.G225	ENST00000339852.4	37	c.675	CCDS12529.1	19																																																																																			NCCRP1	-	pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom	ENSG00000188505		0.672	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCCRP1	HGNC	protein_coding	OTTHUMT00000463829.1	-	0.00	34	0	C	NM_001001414		39691112	+1	tier1	-	no_errors	ENST00000339852	ensembl	human	known	74_37	silent	14.74	81	14	SNP	0.012	A
NPTXR	23467	genome.wustl.edu	37	22	39218704	39218704	+	Silent	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr22:39218704G>A	ENST00000333039.2	-	5	1536	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N		NM_014293.3	NP_055108	O95502	NPTXR_HUMAN	neuronal pentraxin receptor	471	Pentaxin.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	Melanoma(58;0.04)					AGGGAAGGACGTTGCCCAGCA	0.612																																					Pancreas(139;2521 3281 36965)												0													62.0	44.0	50.0					22																	39218704		2203	4300	6503	SO:0001819	synonymous_variant	0			AF052163	CCDS33647.1	22q13.1	2007-01-25			ENSG00000221890	ENSG00000221890			7954	protein-coding gene	gene with protein product		609474				16497176	Standard	NM_014293		Approved		uc003awk.3	O95502	OTTHUMG00000150458	ENST00000333039.2:c.1413C>T	22.37:g.39218704G>A				Silent	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.N471	ENST00000333039.2	37	c.1413	CCDS33647.1	22																																																																																			NPTXR	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	ENSG00000221890		0.612	NPTXR-001	KNOWN	non_ATG_start|basic|appris_principal|CCDS	protein_coding	NPTXR	HGNC	protein_coding	OTTHUMT00000318194.2		0.00	27	0	G	NM_014293		39218704	-1			no_errors	ENST00000333039	ensembl	human	known	74_37	silent	13.64	19	3	SNP	0.997	A
NRXN1	9378	genome.wustl.edu	37	2	50758384	50758384	+	Silent	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:50758384C>T	ENST00000406316.2	-	11	3804	c.2328G>A	c.(2326-2328)gtG>gtA	p.V776V	NRXN1_ENST00000401669.2_Silent_p.V776V|NRXN1_ENST00000405472.3_Silent_p.V768V|NRXN1_ENST00000402717.3_Silent_p.V768V|NRXN1_ENST00000406859.3_Silent_p.V776V|NRXN1_ENST00000404971.1_Silent_p.V816V|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	776	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CCGTCAGTTTCACACGTCCTG	0.483																																																	0													69.0	73.0	72.0					2																	50758384		2035	4208	6243	SO:0001819	synonymous_variant	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.2328G>A	2.37:g.50758384C>T			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.V768	ENST00000406316.2	37	c.2304	CCDS54360.1	2																																																																																			NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000179915		0.483	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0.00	40	0	C			50758384	-1	tier1	-	no_errors	ENST00000402717	ensembl	human	known	74_37	silent	20.55	58	15	SNP	1.000	T
OR2G2	81470	genome.wustl.edu	37	1	247752385	247752385	+	Missense_Mutation	SNP	G	G	T	rs535355641		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:247752385G>T	ENST00000320065.1	+	1	724	c.724G>T	c.(724-726)Ggg>Tgg	p.G242W	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	242						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G242W(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAAGCATTCGGGACCTGCTT	0.502																																																	1	Substitution - Missense(1)	lung(1)											142.0	128.0	133.0					1																	247752385		2203	4300	6503	SO:0001583	missense	0			BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.724G>T	1.37:g.247752385G>T	ENSP00000326349:p.Gly242Trp		Q5JQT2|Q6IEZ0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G242W	ENST00000320065.1	37	c.724	CCDS31092.1	1	.	.	.	.	.	.	.	.	.	.	G	11.57	1.678624	0.29783	.	.	ENSG00000177489	ENST00000320065	T	0.00137	8.68	4.29	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.429966	0.17073	U	0.188089	T	0.00468	0.0015	M	0.84846	2.72	0.09310	N	1	D	0.76494	0.999	D	0.80764	0.994	T	0.40942	-0.9536	10	0.72032	D	0.01	.	9.6025	0.39612	0.0:0.0:0.6522:0.3478	.	242	Q8NGZ5	OR2G2_HUMAN	W	242	ENSP00000326349:G242W	ENSP00000326349:G242W	G	+	1	0	OR2G2	245819008	0.000000	0.05858	0.863000	0.33907	0.516000	0.34256	0.115000	0.15540	2.206000	0.71126	0.591000	0.81541	GGG	OR2G2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000177489		0.502	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2G2	HGNC	protein_coding	OTTHUMT00000097623.1	-	0.00	140	0	G			247752385	+1	tier1	-	no_errors	ENST00000320065	ensembl	human	known	74_37	missense	25.10	183	62	SNP	0.000	T
OR2T4	127074	genome.wustl.edu	37	1	248525012	248525012	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:248525012T>G	ENST00000366475.1	+	1	130	c.130T>G	c.(130-132)Ttc>Gtc	p.F44V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGGTCGGATTTCATCCTGTT	0.473																																																	0													143.0	125.0	131.0					1																	248525012		2203	4299	6502	SO:0001583	missense	0			BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.130T>G	1.37:g.248525012T>G	ENSP00000355431:p.Phe44Val		Q6IEZ8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F44V	ENST00000366475.1	37	c.130	CCDS31113.1	1	.	.	.	.	.	.	.	.	.	.	T	15.17	2.753146	0.49362	.	.	ENSG00000196944	ENST00000366475	T	0.00545	6.67	2.75	2.75	0.32379	.	0.000000	0.47455	D	0.000225	T	0.02083	0.0065	M	0.82517	2.595	0.32743	N	0.507469	D	0.89917	1.0	D	0.97110	1.0	T	0.10590	-1.0623	10	0.87932	D	0	.	10.3628	0.44006	0.0:0.0:0.0:1.0	.	44	Q8NH00	OR2T4_HUMAN	V	44	ENSP00000355431:F44V	ENSP00000355431:F44V	F	+	1	0	OR2T4	246591635	0.924000	0.31332	0.491000	0.27477	0.030000	0.12068	1.459000	0.35234	0.874000	0.35823	0.254000	0.18369	TTC	OR2T4	-	NULL	ENSG00000196944		0.473	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T4	HGNC	protein_coding	OTTHUMT00000097349.2	-	0.00	90	0	T	NM_001004696		248525012	+1	tier1	-	no_errors	ENST00000366475	ensembl	human	known	74_37	missense	17.97	105	23	SNP	0.985	G
OR51F1	256892	genome.wustl.edu	37	11	4790702	4790702	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:4790702A>G	ENST00000380383.1	-	1	466	c.467T>C	c.(466-468)cTg>cCg	p.L156P	OR51F1_ENST00000343430.3_Missense_Mutation_p.L149P|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron			A6NGY5	O51F1_HUMAN	olfactory receptor, family 51, subfamily F, member 1	156						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGTAATCATCAGAAGACCCAT	0.428																																																	0													98.0	100.0	99.0					11																	4790702		2201	4298	6499	SO:0001583	missense	0			BK004771	CCDS31359.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188069	ENSG00000188069		"""GPCR / Class A : Olfactory receptors"""	15196	protein-coding gene	gene with protein product				OR51F1P			Standard	NM_001004752		Approved		uc010qyl.2	A6NGY5	OTTHUMG00000066503	ENST00000380383.1:c.467T>C	11.37:g.4790702A>G	ENSP00000369744:p.Leu156Pro			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L156P	ENST00000380383.1	37	c.467		11	.	.	.	.	.	.	.	.	.	.	A	1.127	-0.653475	0.03480	.	.	ENSG00000188069	ENST00000343430;ENST00000380383	T;T	0.41065	1.01;1.01	5.01	-0.115	0.13560	GPCR, rhodopsin-like superfamily (1);	1.135760	0.06745	N	0.778956	T	0.38957	0.1060	L	0.59912	1.85	0.09310	N	0.999997	B	0.12630	0.006	B	0.22152	0.038	T	0.44574	-0.9319	10	0.72032	D	0.01	.	5.7524	0.18154	0.5596:0.1335:0.3069:0.0	.	156	A6NGY5	O51F1_HUMAN	P	149;156	ENSP00000345163:L149P;ENSP00000369744:L156P	ENSP00000345163:L149P	L	-	2	0	OR51F1	4747278	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.439000	0.21575	0.058000	0.16222	-1.065000	0.02276	CTG	OR51F1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000188069		0.428	OR51F1-201	KNOWN	basic|appris_principal	protein_coding	OR51F1	HGNC	protein_coding			0.00	15	0	A	NM_001004752		4790702	-1			no_errors	ENST00000380383	ensembl	human	known	74_37	missense	30.43	16	7	SNP	0.000	G
OR5D18	219438	genome.wustl.edu	37	11	55588015	55588015	+	Missense_Mutation	SNP	G	G	A	rs376041728		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:55588015G>A	ENST00000333976.4	+	1	930	c.910G>A	c.(910-912)Gag>Aag	p.E304K		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	304						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TACAGTCACCGAGATACTGGA	0.398																																																	0								G	LYS/GLU	0,4400		0,0,2200	59.0	64.0	62.0		910	2.6	0.0	11		62	1,8591		0,1,4295	no	missense	OR5D18	NM_001001952.1	56	0,1,6495	AA,AG,GG		0.0116,0.0,0.0077	benign	304/314	55588015	1,12991	2200	4296	6496	SO:0001583	missense	0			AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.910G>A	11.37:g.55588015G>A	ENSP00000335025:p.Glu304Lys		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E304K	ENST00000333976.4	37	c.910	CCDS31510.1	11	.	.	.	.	.	.	.	.	.	.	.	4.425	0.078629	0.08533	0.0	1.16E-4	ENSG00000186119	ENST00000333976	T	0.32988	1.43	4.97	2.6	0.31112	.	0.189615	0.25922	N	0.027433	T	0.04048	0.0113	N	0.00058	-2.35	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39272	-0.9622	10	0.02654	T	1	-3.3848	4.1936	0.10433	0.6857:0.0:0.1658:0.1485	.	304	Q8NGL1	OR5DI_HUMAN	K	304	ENSP00000335025:E304K	ENSP00000335025:E304K	E	+	1	0	OR5D18	55344591	0.000000	0.05858	0.003000	0.11579	0.471000	0.32888	0.921000	0.28718	0.360000	0.24265	-0.413000	0.06143	GAG	OR5D18	-	NULL	ENSG00000186119		0.398	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D18	HGNC	protein_coding	OTTHUMT00000391515.1	-	0.00	24	0	G	NM_001001952		55588015	+1	tier1	-	no_errors	ENST00000333976	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.008	A
OR8I2	120586	genome.wustl.edu	37	11	55861280	55861280	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:55861280T>G	ENST00000302124.2	+	1	528	c.497T>G	c.(496-498)tTg>tGg	p.L166W		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATAAGCAGTTTGGCGTTCTGT	0.443																																																	0													161.0	151.0	154.0					11																	55861280		2201	4296	6497	SO:0001583	missense	0			AB065656	CCDS31517.1	11q11	2012-08-09			ENSG00000172154	ENSG00000172154		"""GPCR / Class A : Olfactory receptors"""	15310	protein-coding gene	gene with protein product							Standard	NM_001003750		Approved		uc010rix.2	Q8N0Y5	OTTHUMG00000166831	ENST00000302124.2:c.497T>G	11.37:g.55861280T>G	ENSP00000303864:p.Leu166Trp		B2RNN4|Q6IFC0|Q96RC5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L166W	ENST00000302124.2	37	c.497	CCDS31517.1	11	.	.	.	.	.	.	.	.	.	.	T	13.51	2.258992	0.39896	.	.	ENSG00000172154	ENST00000302124	T	0.00301	8.21	4.33	4.33	0.51752	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33092	U	0.005299	T	0.01124	0.0037	H	0.96970	3.915	0.20703	N	0.999863	D	0.89917	1.0	D	0.97110	1.0	T	0.13072	-1.0523	10	0.87932	D	0	-12.1653	12.9964	0.58648	0.0:0.0:0.0:1.0	.	166	Q8N0Y5	OR8I2_HUMAN	W	166	ENSP00000303864:L166W	ENSP00000303864:L166W	L	+	2	0	OR8I2	55617856	0.981000	0.34729	0.116000	0.21606	0.040000	0.13550	7.135000	0.77276	1.717000	0.51406	0.362000	0.22060	TTG	OR8I2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000172154		0.443	OR8I2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8I2	HGNC	protein_coding			0.00	32	0	T	NM_001003750		55861280	+1			no_errors	ENST00000302124	ensembl	human	known	74_37	missense	6.38	44	3	SNP	0.256	G
P2RX7	5027	genome.wustl.edu	37	12	121598715	121598715	+	Missense_Mutation	SNP	G	G	A	rs201668926		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:121598715G>A	ENST00000546057.1	+	4	517	c.374G>A	c.(373-375)cGc>cAc	p.R125H	P2RX7_ENST00000535250.1_Missense_Mutation_p.R35H|P2RX7_ENST00000541446.1_Intron|P2RX7_ENST00000377162.2_Missense_Mutation_p.R125H|P2RX7_ENST00000328963.5_5'UTR|P2RX7_ENST00000443520.3_3'UTR	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	125					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TATCCCACCCGCAGGACGCTC	0.512																																																	0													228.0	214.0	219.0					12																	121598715		2203	4300	6503	SO:0001583	missense	0			Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.374G>A	12.37:g.121598715G>A	ENSP00000442349:p.Arg125His		A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Missense_Mutation	SNP	pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.R125H	ENST00000546057.1	37	c.374	CCDS9213.1	12	.	.	.	.	.	.	.	.	.	.	G	18.71	3.682308	0.68042	.	.	ENSG00000089041	ENST00000546057;ENST00000377162;ENST00000535250	T;T;T	0.04551	3.6;3.6;3.6	5.93	1.68	0.24146	.	0.558618	0.17599	N	0.168469	T	0.06371	0.0164	L	0.35593	1.075	0.80722	D	1	D;D	0.57571	0.98;0.972	P;P	0.48677	0.553;0.586	T	0.41734	-0.9492	10	0.46703	T	0.11	.	10.4192	0.44340	0.077:0.5604:0.3626:0.0	.	35;125	F5H7E8;Q99572	.;P2RX7_HUMAN	H	125;125;35	ENSP00000442349:R125H;ENSP00000366367:R125H;ENSP00000442572:R35H	ENSP00000261826:R125H	R	+	2	0	P2RX7	120083098	0.000000	0.05858	0.992000	0.48379	0.981000	0.71138	-0.875000	0.04205	0.358000	0.24211	0.561000	0.74099	CGC	P2RX7	-	pfam_P2X_purnocptor,tigrfam_P2X_purnocptor	ENSG00000089041		0.512	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX7	HGNC	protein_coding	OTTHUMT00000402532.1		0.00	45	0	G	NM_002562		121598715	+1			no_errors	ENST00000546057	ensembl	human	known	74_37	missense	5.33	70	4	SNP	0.974	A
PAPOLA	10914	genome.wustl.edu	37	14	97018947	97018947	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:97018947G>A	ENST00000216277.8	+	17	1872	c.1652G>A	c.(1651-1653)gGc>gAc	p.G551D	PAPOLA_ENST00000392990.2_Missense_Mutation_p.G551D	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	551	Ser/Thr-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AACAGTTCTGGCAGCTCTCAG	0.433																																					NSCLC(19;254 734 11908 35501 39234)												0													89.0	83.0	85.0					14																	97018947		2203	4300	6503	SO:0001583	missense	0			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.1652G>A	14.37:g.97018947G>A	ENSP00000216277:p.Gly551Asp		Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.G551D	ENST00000216277.8	37	c.1652	CCDS9946.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.54|13.54	2.267666|2.267666	0.40095|0.40095	.|.	.|.	ENSG00000090060|ENSG00000090060	ENST00000556459|ENST00000216277;ENST00000546064;ENST00000392990;ENST00000555626	.|.	.|.	.|.	5.32|5.32	5.32|5.32	0.75619|0.75619	.|.	.|0.126948	.|0.56097	.|D	.|0.000039	T|T	0.51635|0.51635	0.1686|0.1686	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999994|0.999994	.|B;P;B	.|0.40144	.|0.1;0.704;0.19	.|B;B;B	.|0.33521	.|0.041;0.165;0.023	T|T	0.52124|0.52124	-0.8617|-0.8617	5|9	.|0.12103	.|T	.|0.63	.|.	19.3796|19.3796	0.94527|0.94527	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|567;567;551	.|F5H5I8;B4DYF4;P51003	.|.;.;PAPOA_HUMAN	T|D	52|551;567;551;301	.|.	.|ENSP00000216277:G551D	A|G	+|+	1|2	0|0	PAPOLA|PAPOLA	96088700|96088700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.409000|5.409000	0.66374|0.66374	2.644000|2.644000	0.89710|0.89710	0.650000|0.650000	0.86243|0.86243	GCA|GGC	PAPOLA	-	pirsf_PolyA_polymerase	ENSG00000090060		0.433	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLA	HGNC	protein_coding	OTTHUMT00000413411.2	-	0.00	44	0	G			97018947	+1	tier1	-	no_errors	ENST00000216277	ensembl	human	known	74_37	missense	6.25	60	4	SNP	1.000	A
PBRM1	55193	genome.wustl.edu	37	3	52712580	52712580	+	Nonsense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:52712580G>A	ENST00000296302.7	-	2	173	c.172C>T	c.(172-174)Cga>Tga	p.R58*	PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R58*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R58*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R58*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R58*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R58*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R58*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.R58*			Q86U86	PB1_HUMAN	polybromo 1	58					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R58*(7)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTATAGTCTCGGATGGTATTA	0.433			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																			Rec	yes		3	3p21	55193	polybromo 1		E	7	Substitution - Nonsense(7)	kidney(6)|large_intestine(1)											130.0	118.0	122.0					3																	52712580		2203	4300	6503	SO:0001587	stop_gained	0			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.172C>T	3.37:g.52712580G>A	ENSP00000296302:p.Arg58*		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain	p.R58*	ENST00000296302.7	37	c.172		3	.	.	.	.	.	.	.	.	.	.	G	36	5.705422	0.96812	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103;ENST00000431678;ENST00000420148;ENST00000449505;ENST00000450271	.	.	.	5.2	3.17	0.36434	.	0.056365	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	2.9834	8.9802	0.35961	0.0:0.1109:0.6405:0.2486	.	.	.	.	X	58;58;58;58;58;58;58;58;58;2;58;58;58;58	.	ENSP00000296302:R58X	R	-	1	2	PBRM1	52687620	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	3.452000	0.52971	1.160000	0.42584	0.460000	0.39030	CGA	PBRM1	-	superfamily_Bromodomain,smart_Bromodomain	ENSG00000163939		0.433	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	PBRM1	HGNC	protein_coding	OTTHUMT00000327232.1	-	0.00	28	0	G	NM_018165		52712580	-1	tier1	-	no_errors	ENST00000296302	ensembl	human	known	74_37	nonsense	25.93	40	14	SNP	1.000	A
PCDH15	65217	genome.wustl.edu	37	10	55626442	55626442	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr10:55626442T>A	ENST00000320301.6	-	27	4071	c.3677A>T	c.(3676-3678)gAc>gTc	p.D1226V	PCDH15_ENST00000409834.1_Missense_Mutation_p.D837V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000361849.3_Missense_Mutation_p.D1226V|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1226V|PCDH15_ENST00000395445.1_Missense_Mutation_p.D1233V|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1189V|PCDH15_ENST00000373965.2_Missense_Mutation_p.D1233V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.D1231V|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1155V|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1204V|PCDH15_ENST00000395438.1_Missense_Mutation_p.D1226V	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1226	Cadherin 11. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCATAGTCGTCAGTTGCAAT	0.418										HNSCC(58;0.16)																																							0													127.0	109.0	115.0					10																	55626442		2203	4300	6503	SO:0001583	missense	0			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3677A>T	10.37:g.55626442T>A	ENSP00000322604:p.Asp1226Val		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D1226V	ENST00000320301.6	37	c.3677	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	T	24.7	4.562862	0.86335	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	5.47	5.47	0.80525	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.93585	0.7952	H	0.98005	4.125	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.95829	0.8856	9	0.87932	D	0	.	15.204	0.73162	0.0:0.0:0.0:1.0	.	1204;1226;1226;1231;1155;1189;1226;1226;1233;1233;1226;1231;1226	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	V	1233;1231;1226;1226;837;1233;1189;1226;1204;1226;1226;1231;1155	ENSP00000363076:D1233V;ENSP00000410304:D1231V;ENSP00000378826:D1226V;ENSP00000386693:D837V;ENSP00000378832:D1233V;ENSP00000378820:D1189V;ENSP00000354950:D1226V;ENSP00000378821:D1204V;ENSP00000322604:D1226V;ENSP00000378818:D1226V;ENSP00000412628:D1155V	ENSP00000322604:D1226V	D	-	2	0	PCDH15	55296448	1.000000	0.71417	0.974000	0.42286	0.952000	0.60782	8.040000	0.89188	2.078000	0.62432	0.460000	0.39030	GAC	PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000150275		0.418	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	-	0.00	42	0	T	NM_033056		55626442	-1	tier1	-	no_errors	ENST00000320301	ensembl	human	known	74_37	missense	23.73	45	14	SNP	1.000	A
PCDH17	27253	genome.wustl.edu	37	13	58208511	58208511	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr13:58208511C>T	ENST00000377918.3	+	1	1857	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	611	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GAGCACTGTGCGCGCCCTAGA	0.657																																					Melanoma(72;952 1291 1619 12849 33676)												0													34.0	33.0	34.0					13																	58208511		2202	4296	6498	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1831C>T	13.37:g.58208511C>T	ENSP00000367151:p.Arg611Cys		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R611C	ENST00000377918.3	37	c.1831	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	C	14.40	2.524549	0.44969	.	.	ENSG00000118946	ENST00000377918	T	0.53423	0.62	5.36	4.46	0.54185	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.67636	0.2914	M	0.80422	2.495	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.74023	0.947;0.982	T	0.70124	-0.4958	9	.	.	.	.	12.7714	0.57423	0.2873:0.7127:0.0:0.0	.	611;611	O14917-2;O14917	.;PCD17_HUMAN	C	611	ENSP00000367151:R611C	.	R	+	1	0	PCDH17	57106512	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	4.027000	0.57239	2.500000	0.84329	0.561000	0.74099	CGC	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000118946		0.657	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1		0.00	8	0	C	NM_001040429		58208511	+1			no_errors	ENST00000377918	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T
PCDHA13	56136	genome.wustl.edu	37	5	140264177	140264177	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:140264177G>T	ENST00000289272.2	+	1	2324	c.2324G>T	c.(2323-2325)aGc>aTc	p.S775I	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.S775I|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	775	6 X 4 AA repeats of P-X-X-P.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCAGTCCCAGCCTTCCTCCT	0.562																																					Melanoma(147;1739 1852 5500 27947 37288)												0													40.0	43.0	42.0					5																	140264177		2203	4300	6503	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.2324G>T	5.37:g.140264177G>T	ENSP00000289272:p.Ser775Ile		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S775I	ENST00000289272.2	37	c.2324	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061681	0.55432	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.16073	2.37;2.37	4.61	2.45	0.29901	.	.	.	.	.	T	0.27594	0.0678	M	0.68593	2.085	0.09310	N	1	B;B;P	0.51653	0.246;0.212;0.947	B;B;P	0.57283	0.064;0.091;0.817	T	0.13629	-1.0502	9	0.48119	T	0.1	.	2.3012	0.04162	0.319:0.3113:0.3697:0.0	.	775;775;775	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	I	775	ENSP00000386821:S775I;ENSP00000289272:S775I	ENSP00000289272:S775I	S	+	2	0	PCDHA13	140244361	0.000000	0.05858	0.004000	0.12327	0.345000	0.29048	0.233000	0.17911	0.895000	0.36342	0.655000	0.94253	AGC	PCDHA13	-	NULL	ENSG00000239389		0.562	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0.00	42	0	G	NM_018904		140264177	+1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	7.69	60	5	SNP	0.107	T
PCDHGC5	56097	genome.wustl.edu	37	5	140870262	140870262	+	Silent	SNP	T	T	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:140870262T>C	ENST00000252087.1	+	1	1455	c.1455T>C	c.(1453-1455)gaT>gaC	p.D485D	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN	protocadherin gamma subfamily C, 5	485	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACTGGGGATAATGCCCGCC	0.557																																																	0													109.0	116.0	114.0					5																	140870262		2203	4300	6503	SO:0001819	synonymous_variant	0			AF152526	CCDS4263.1, CCDS75350.1	5q31	2010-01-26			ENSG00000240764	ENSG00000240764		"""Cadherins / Protocadherins : Clustered"""	8718	other	protocadherin		606306				10380929	Standard	NM_018929		Approved	PCDH-GAMMA-C5	uc003lla.2	Q9Y5F6	OTTHUMG00000129624	ENST00000252087.1:c.1455T>C	5.37:g.140870262T>C			Q9Y5C2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D485	ENST00000252087.1	37	c.1455	CCDS4263.1	5																																																																																			PCDHGC5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000240764		0.557	PCDHGC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGC5	HGNC	protein_coding	OTTHUMT00000251819.1	-	0.00	27	0	T	NM_018929		140870262	+1	tier1	-	no_errors	ENST00000252087	ensembl	human	known	74_37	silent	19.57	36	9	SNP	0.526	C
PCSK6	5046	genome.wustl.edu	37	15	101866616	101866616	+	Missense_Mutation	SNP	C	C	T	rs373329976	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr15:101866616C>T	ENST00000348070.1	-	17	2142	c.2143G>A	c.(2143-2145)Gtc>Atc	p.V715I	PCSK6_ENST00000358417.3_Missense_Mutation_p.V702I|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	716	CRM (Cys-rich motif).				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)	p.V715I(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGAAGTGGACGCAGTTCAAG	0.537													C|||	2	0.000399361	0.0008	0.0	5008	,	,		20797	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	pancreas(1)						C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4287		0,1,2143	68.0	76.0	73.0		2105,2144,2105,2144	1.2	0.5	15		73	0,8494		0,0,4247	no	missense,missense,missense,missense	PCSK6	NM_138321.1,NM_138320.1,NM_138319.2,NM_002570.3	29,29,29,29	0,1,6390	TT,TC,CC		0.0,0.0233,0.0078	benign,benign,benign,benign	703/963,716/976,703/957,716/970	101866616	1,12781	2144	4247	6391	SO:0001583	missense	0				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.2143G>A	15.37:g.101866616C>T	ENSP00000305056:p.Val715Ile		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_PLAC,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,pfscan_PLAC,prints_Peptidase_S8_subtilisin-rel	p.V715I	ENST00000348070.1	37	c.2143		15	.	.	.	.	.	.	.	.	.	.	C	6.892	0.534158	0.13188	2.33E-4	0.0	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185	T;D	0.85556	0.99;-2.0	5.27	1.25	0.21368	Growth factor, receptor (1);	0.327366	0.27478	N	0.019189	T	0.57784	0.2077	N	0.05050	-0.12	0.52099	D	0.999946	B;P;B;B;B	0.45283	0.042;0.855;0.048;0.037;0.028	B;B;B;B;B	0.24974	0.009;0.057;0.017;0.028;0.008	T	0.55939	-0.8061	10	0.16896	T	0.51	-28.5838	9.5073	0.39056	0.0:0.6842:0.0:0.3158	.	716;547;703;716;702	P29122;Q59H04;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.	I	715;702;546	ENSP00000305056:V715I;ENSP00000351193:V702I	ENSP00000305056:V715I	V	-	1	0	PCSK6	99684139	0.277000	0.24220	0.464000	0.27143	0.701000	0.40568	0.225000	0.17757	0.235000	0.21160	-2.069000	0.00389	GTC	PCSK6	-	superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom	ENSG00000140479		0.537	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding		-	0.00	50	0	C	NM_002570		101866616	-1	tier1	-	no_errors	ENST00000348070	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.115	T
PDE9A	5152	genome.wustl.edu	37	21	44188496	44188496	+	Intron	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr21:44188496G>A	ENST00000291539.6	+	16	1521				PDE9A_ENST00000335440.6_Intron|PDE9A_ENST00000328862.6_Intron|PDE9A_ENST00000349112.3_Intron|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000335512.4_Intron|PDE9A_ENST00000380328.2_Intron|PDE9A_ENST00000398232.3_Intron|PDE9A_ENST00000398234.3_Intron|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398236.3_Intron|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000398224.3_Intron|PDE9A_ENST00000470987.1_Intron|PDE9A_ENST00000398225.3_Intron	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A						blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GGGTGGTCCCGCATATTCCCC	0.493																																																	0																																										SO:0001627	intron_variant	0			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.1461+94G>A	21.37:g.44188496G>A			B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	RNA	SNP	-	NULL	ENST00000291539.6	37	NULL	CCDS13690.1	21																																																																																			PDE9A	-	-	ENSG00000160191		0.493	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	HGNC	protein_coding	OTTHUMT00000195466.1	-	0.00	17	0	G			44188496	+1	tier1	-	no_errors	ENST00000466472	ensembl	human	putative	74_37	rna	26.09	17	6	SNP	0.000	A
PER3	8863	genome.wustl.edu	37	1	7890053	7890053	+	Missense_Mutation	SNP	G	G	A	rs1776342	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:7890053G>A	ENST00000361923.2	+	18	3194	c.3019G>A	c.(3019-3021)Gct>Act	p.A1007T	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000377532.3_Missense_Mutation_p.A1016T	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1007	5 X 18 AA tandem repeats of S-[HP]-[AP]- T-[AT]-[GST]-[ATV]-L-S-[MT]-G-[LS]-P-P- [MRS]-[EKR]-[NST]-P.|Ser-rich.		A -> T (in dbSNP:rs1776342).|Missing (associated with eveningness and better cognitive performance during sleep deprivation exepriments; dbSNP:rs57875989).		circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.A1007T(1)		breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TACTGCCAGCGCTCTGTCCAC	0.587																																																	1	Substitution - Missense(1)	kidney(1)											87.0	69.0	75.0					1																	7890053		1995	3902	5897	SO:0001583	missense	0			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3019G>A	1.37:g.7890053G>A	ENSP00000355031:p.Ala1007Thr		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS	p.A1007T	ENST00000361923.2	37	c.3019	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	g	0.668	-0.803078	0.02841	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.14391	2.51;2.51	0.119	0.119	0.14685	Period circadian-like, C-terminal (1);	9.368370	0.00166	N	0.000019	T	0.09158	0.0226	N	0.20685	0.6	0.09310	N	1	B;B;B;B;B	0.25048	0.025;0.007;0.066;0.117;0.007	B;B;B;B;B	0.23018	0.002;0.004;0.004;0.043;0.004	T	0.25676	-1.0125	9	0.18710	T	0.47	.	.	.	.	rs1776342	56;1007;1016;1016;1007	B4DR65;A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;.;PER3_HUMAN	T	1016;1007	ENSP00000366755:A1016T;ENSP00000355031:A1007T	ENSP00000355031:A1007T	A	+	1	0	PER3	7812640	0.000000	0.05858	0.068000	0.19968	0.074000	0.17049	-0.849000	0.04322	0.275000	0.22094	0.280000	0.19369	GCT	PER3	-	pfam_Period_circadian-like_C	ENSG00000049246		0.587	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	-	0.00	36	0	G	NM_016831		7890053	+1	tier1	rs1776342	no_errors	ENST00000361923	ensembl	human	known	74_37	missense	9.59	66	7	SNP	0.080	A
PGM1	5236	genome.wustl.edu	37	1	64101965	64101965	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:64101965G>A	ENST00000371084.3	+	6	1147	c.934G>A	c.(934-936)Gtc>Atc	p.V312I	PGM1_ENST00000371083.4_Missense_Mutation_p.V330I|PGM1_ENST00000540265.1_Missense_Mutation_p.V115I	NM_002633.2	NP_002624.2	P36871	PGM1_HUMAN	phosphoglucomutase 1	312					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|glycolytic process (GO:0006096)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCTGTGGCTGTCATTGCTGC	0.517																																																	0													123.0	109.0	114.0					1																	64101965		2203	4300	6503	SO:0001583	missense	0			BC019920	CCDS625.1, CCDS53323.1, CCDS53324.1	1p22.1	2012-10-02			ENSG00000079739	ENSG00000079739	5.4.2.2		8905	protein-coding gene	gene with protein product		171900				4517931, 1530890	Standard	NM_002633		Approved		uc010ooz.2	P36871	OTTHUMG00000008968	ENST00000371084.3:c.934G>A	1.37:g.64101965G>A	ENSP00000360125:p.Val312Ile		B2R5N9|B4DPV0|Q16105|Q16106|Q5BKZ9|Q6NW22|Q86U74|Q96J40|Q9NTY4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.V330I	ENST00000371084.3	37	c.988	CCDS625.1	1	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988177	0.35036	.	.	ENSG00000079739	ENST00000538673;ENST00000371084;ENST00000540265;ENST00000371083	T;T;T	0.42513	0.97;0.97;0.97	5.2	5.2	0.72013	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.124181	0.53938	D	0.000045	T	0.20007	0.0481	L	0.41632	1.29	0.48571	D	0.999672	B;B	0.23377	0.018;0.084	B;B	0.29524	0.017;0.103	T	0.12811	-1.0533	10	0.05525	T	0.97	-0.2057	18.9316	0.92568	0.0:0.0:1.0:0.0	.	330;312	P36871-2;P36871	.;PGM1_HUMAN	I	288;312;115;330	ENSP00000360125:V312I;ENSP00000443449:V115I;ENSP00000360124:V330I	ENSP00000360124:V330I	V	+	1	0	PGM1	63874553	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.829000	0.86735	2.691000	0.91804	0.655000	0.94253	GTC	PGM1	-	pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III	ENSG00000079739		0.517	PGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGM1	HGNC	protein_coding	OTTHUMT00000024868.1	-	0.00	42	0	G	NM_002633		64101965	+1	tier1	-	no_errors	ENST00000371083	ensembl	human	known	74_37	missense	23.64	42	13	SNP	1.000	A
PIEZO2	63895	genome.wustl.edu	37	18	10731435	10731435	+	Missense_Mutation	SNP	G	G	A	rs377309185		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr18:10731435G>A	ENST00000503781.3	-	33	4824	c.4825C>T	c.(4825-4827)Cgg>Tgg	p.R1609W	PIEZO2_ENST00000302079.6_Missense_Mutation_p.R1609W|PIEZO2_ENST00000580640.1_Missense_Mutation_p.R1634W|RP11-21G15.1_ENST00000581724.1_RNA	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1609					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										CTTCGTTTCCGTTCTTCTCTT	0.507																																																	0								G	TRP/ARG	1,1383		0,1,691	333.0	311.0	318.0		4825	3.4	0.4	18		318	0,3182		0,0,1591	no	missense	PIEZO2	NM_022068.2	101	0,1,2282	AA,AG,GG		0.0,0.0723,0.0219		1609/2753	10731435	1,4565	692	1591	2283	SO:0001583	missense	0			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.4825C>T	18.37:g.10731435G>A	ENSP00000421377:p.Arg1609Trp		B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Missense_Mutation	SNP	pfam_Piezo	p.R1634W	ENST00000503781.3	37	c.4900		18	.	.	.	.	.	.	.	.	.	.	G	6.621	0.482992	0.12581	7.23E-4	0.0	ENSG00000154864	ENST00000302079	T	0.73469	-0.75	5.36	3.38	0.38709	.	.	.	.	.	T	0.74374	0.3708	L	0.50333	1.59	0.18873	N	0.999983	.	.	.	.	.	.	T	0.66192	-0.5985	7	0.66056	D	0.02	.	10.5764	0.45229	0.0:0.0:0.5166:0.4834	.	.	.	.	W	1609	ENSP00000303316:R1609W	ENSP00000303316:R1609W	R	-	1	2	FAM38B	10721435	0.353000	0.24904	0.384000	0.26145	0.237000	0.25408	0.676000	0.25247	1.199000	0.43173	0.561000	0.74099	CGG	PIEZO2	-	NULL	ENSG00000154864		0.507	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	-	0.00	74	0	G	NM_022068		10731435	-1	tier1	-	no_errors	ENST00000580640	ensembl	human	novel	74_37	missense	6.88	149	11	SNP	0.026	A
PIGO	84720	genome.wustl.edu	37	9	35091374	35091374	+	Missense_Mutation	SNP	A	A	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:35091374A>T	ENST00000378617.3	-	7	2904	c.2510T>A	c.(2509-2511)gTc>gAc	p.V837D	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.V837D	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	837					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GAGGGCTGTGACCATAGCAGC	0.562																																																	0													100.0	87.0	91.0					9																	35091374		2203	4300	6503	SO:0001583	missense	0			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.2510T>A	9.37:g.35091374A>T	ENSP00000367880:p.Val837Asp		B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.V837D	ENST00000378617.3	37	c.2510	CCDS6575.1	9	.	.	.	.	.	.	.	.	.	.	A	18.73	3.687129	0.68157	.	.	ENSG00000165282	ENST00000378617;ENST00000341666	T;T	0.59638	0.25;0.25	5.18	5.18	0.71444	.	0.144759	0.46145	D	0.000314	T	0.63965	0.2556	L	0.29908	0.895	0.80722	D	1	D	0.71674	0.998	D	0.63488	0.915	T	0.68070	-0.5506	10	0.72032	D	0.01	-13.69	15.1942	0.73071	1.0:0.0:0.0:0.0	.	837	Q8TEQ8	PIGO_HUMAN	D	837	ENSP00000367880:V837D;ENSP00000339382:V837D	ENSP00000339382:V837D	V	-	2	0	PIGO	35081374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.183000	0.89700	2.172000	0.68678	0.533000	0.62120	GTC	PIGO	-	NULL	ENSG00000165282		0.562	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	HGNC	protein_coding	OTTHUMT00000052284.1		0.00	23	0	A	NM_032634		35091374	-1			no_errors	ENST00000341666	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
PLCL2	23228	genome.wustl.edu	37	3	17052198	17052198	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:17052198T>A	ENST00000418129.2	+	2	1447	c.982T>A	c.(982-984)Tcc>Acc	p.S328T	PLCL2_ENST00000432376.1_Missense_Mutation_p.S328T|PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.S328T	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	454					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCGAGGTCCCTCCGACATCAC	0.413																																																	0													116.0	123.0	121.0					3																	17052198		2203	4300	6503	SO:0001583	missense	0			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.982T>A	3.37:g.17052198T>A	ENSP00000409637:p.Ser328Thr		A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.S328T	ENST00000418129.2	37	c.982	CCDS33713.1	3	.	.	.	.	.	.	.	.	.	.	T	17.70	3.454072	0.63290	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.69306	-0.39;-0.39;-0.39	5.96	5.96	0.96718	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	T	0.81380	0.4810	.	.	.	0.80722	D	1	D	0.59767	0.986	D	0.65140	0.932	T	0.83265	-0.0046	9	0.62326	D	0.03	.	16.4277	0.83824	0.0:0.0:0.0:1.0	.	454	Q9UPR0	PLCL2_HUMAN	T	328;455;328;328	ENSP00000409637:S328T;ENSP00000379979:S328T;ENSP00000412836:S328T	ENSP00000285094:S455T	S	+	1	0	PLCL2	17027202	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.040000	0.89188	2.279000	0.76181	0.533000	0.62120	TCC	PLCL2	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	ENSG00000154822		0.413	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	-	0.00	37	0	T			17052198	+1	tier1	-	no_errors	ENST00000418129	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	A
PLEC	5339	genome.wustl.edu	37	8	144994276	144994276	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr8:144994276G>A	ENST00000322810.4	-	32	10293	c.10124C>T	c.(10123-10125)cCg>cTg	p.P3375L	PLEC_ENST00000357649.2_Missense_Mutation_p.P3242L|PLEC_ENST00000345136.3_Missense_Mutation_p.P3238L|PLEC_ENST00000356346.3_Missense_Mutation_p.P3224L|PLEC_ENST00000398774.2_Missense_Mutation_p.P3206L|PLEC_ENST00000527096.1_Missense_Mutation_p.P3261L|PLEC_ENST00000436759.2_Missense_Mutation_p.P3265L|PLEC_ENST00000354589.3_Missense_Mutation_p.P3238L|PLEC_ENST00000354958.2_Missense_Mutation_p.P3216L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3375	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GACCTCAACCGGGGTCTTTTC	0.637																																																	0													37.0	40.0	39.0					8																	144994276		1933	4123	6056	SO:0001583	missense	0			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.10124C>T	8.37:g.144994276G>A	ENSP00000323856:p.Pro3375Leu		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.P3375L	ENST00000322810.4	37	c.10124	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	G	0.509	-0.867280	0.02590	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.74947	-0.85;-0.86;-0.89;-0.89;-0.87;-0.85;-0.85;-0.85;-0.85	4.17	2.2	0.27929	.	0.259050	0.29028	U	0.013371	T	0.49712	0.1573	N	0.04508	-0.205	0.09310	N	1	B;B;B;B;B;B;B;B	0.15719	0.014;0.014;0.014;0.008;0.014;0.014;0.014;0.014	B;B;B;B;B;B;B;B	0.12156	0.006;0.007;0.007;0.003;0.007;0.006;0.006;0.006	T	0.40403	-0.9565	10	0.37606	T	0.19	.	9.7445	0.40437	0.0:0.1481:0.6878:0.1641	.	3265;3224;3216;3375;3206;3238;3242;3238	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	L	3238;3242;3238;3206;3375;3216;3224;3265;3261	ENSP00000344848:P3238L;ENSP00000350277:P3242L;ENSP00000346602:P3238L;ENSP00000381756:P3206L;ENSP00000323856:P3375L;ENSP00000347044:P3216L;ENSP00000348702:P3224L;ENSP00000388180:P3265L;ENSP00000434583:P3261L	ENSP00000323856:P3375L	P	-	2	0	PLEC	145066264	0.055000	0.20627	0.003000	0.11579	0.097000	0.18754	2.289000	0.43523	0.411000	0.25702	0.393000	0.25936	CCG	PLEC	-	NULL	ENSG00000178209		0.637	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1		0.00	17	0	G	NM_000445		144994276	-1			no_errors	ENST00000322810	ensembl	human	known	74_37	missense	13.21	46	7	SNP	0.014	A
PLEKHG4B	153478	genome.wustl.edu	37	5	162001	162001	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:162001C>A	ENST00000283426.6	+	10	1573	c.1523C>A	c.(1522-1524)gCt>gAt	p.A508D		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	508							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTCAGCCAGGCTGAGTGCAGG	0.637																																																	0													83.0	72.0	76.0					5																	162001		2203	4300	6503	SO:0001583	missense	0			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.1523C>A	5.37:g.162001C>A	ENSP00000283426:p.Ala508Asp			Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.A508D	ENST00000283426.6	37	c.1523	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447804	0.26074	.	.	ENSG00000153404	ENST00000283426	D	0.92858	-3.12	2.42	2.42	0.29668	.	.	.	.	.	D	0.86422	0.5929	L	0.47190	1.495	0.19575	N	0.999966	B	0.26400	0.148	B	0.21360	0.034	T	0.72168	-0.4372	9	0.17369	T	0.5	.	8.555	0.33476	0.0:1.0:0.0:0.0	.	508	Q96PX9	PKH4B_HUMAN	D	508	ENSP00000283426:A508D	ENSP00000283426:A508D	A	+	2	0	PLEKHG4B	215001	0.954000	0.32549	0.006000	0.13384	0.130000	0.20726	1.447000	0.35101	1.055000	0.40461	0.460000	0.39030	GCT	PLEKHG4B	-	NULL	ENSG00000153404		0.637	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	-	0.00	37	0	C	NM_052909		162001	+1	tier1	-	no_errors	ENST00000283426	ensembl	human	known	74_37	missense	16.33	41	8	SNP	0.706	A
PON3	5446	genome.wustl.edu	37	7	94991762	94991762	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:94991762T>A	ENST00000265627.5	-	8	828	c.818A>T	c.(817-819)gAt>gTt	p.D273V	PON3_ENST00000427422.1_Intron|PON3_ENST00000451904.1_Intron|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1	Q15166	PON3_HUMAN	paraoxonase 3	273					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|coumarin catabolic process (GO:0046226)|phenylacetate catabolic process (GO:0010124)|response to external stimulus (GO:0009605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	3,4-dihydrocoumarin hydrolase activity (GO:0018733)|aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|dihydrocoumarin hydrolase activity (GO:0047856)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)		Edetic Acid(DB00974)|Lovastatin(DB00227)	TGTGGCAGGATCGACAGTCAG	0.458																																																	0													80.0	75.0	76.0					7																	94991762		2203	4300	6503	SO:0001583	missense	0			L48516, AF320003	CCDS5639.1	7q21.3	2014-03-14			ENSG00000105852	ENSG00000105852	3.1.1.2	"""Paraoxonases"""	9206	protein-coding gene	gene with protein product	"""arylesterase 3"""	602720				8661009	Standard	NM_000940		Approved			Q15166	OTTHUMG00000153917	ENST00000265627.5:c.818A>T	7.37:g.94991762T>A	ENSP00000265627:p.Asp273Val		A4D1H8|O75855|O76060|Q6IRU9|Q8IX97|Q9BZH9	Missense_Mutation	SNP	pfam_Arylesterase,pfam_SGL,pfam_Strictosidine_synth_cons-reg,prints_Arylesterase,prints_Paraoxonase2	p.D273V	ENST00000265627.5	37	c.818	CCDS5639.1	7	.	.	.	.	.	.	.	.	.	.	T	19.23	3.788393	0.70337	.	.	ENSG00000105852	ENST00000265627	T	0.59083	0.29	4.98	4.98	0.66077	Six-bladed beta-propeller, TolB-like (1);	0.045132	0.85682	D	0.000000	T	0.79251	0.4414	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.83807	0.0239	10	0.87932	D	0	-25.2577	14.8234	0.70091	0.0:0.0:0.0:1.0	.	273	Q15166	PON3_HUMAN	V	273	ENSP00000265627:D273V	ENSP00000265627:D273V	D	-	2	0	PON3	94829698	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	6.392000	0.73213	2.224000	0.72417	0.528000	0.53228	GAT	PON3	-	pfam_SGL,prints_Arylesterase	ENSG00000105852		0.458	PON3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PON3	HGNC	protein_coding	OTTHUMT00000333007.1	-	0.00	22	0	T	NM_000940		94991762	-1	tier1	-	no_errors	ENST00000265627	ensembl	human	known	74_37	missense	30.19	37	16	SNP	1.000	A
PLXNA4	91584	genome.wustl.edu	37	7	131872279	131872279	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:131872279C>T	ENST00000359827.3	-	15	3906	c.2944G>A	c.(2944-2946)Gga>Aga	p.G982R	PLXNA4_ENST00000321063.4_Missense_Mutation_p.G982R			Q9HCM2	PLXA4_HUMAN	plexin A4	982	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.G982*(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACGTTGCTTCCGGCATTCAGG	0.567																																																	2	Substitution - Nonsense(2)	lung(2)											206.0	222.0	216.0					7																	131872279		2108	4245	6353	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2944G>A	7.37:g.131872279C>T	ENSP00000352882:p.Gly982Arg		A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom	p.G982R	ENST00000359827.3	37	c.2944	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.217110	0.95104	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.75821	-0.97;-0.97	5.54	5.54	0.83059	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.86356	0.5913	M	0.71296	2.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87229	0.2259	10	0.87932	D	0	.	19.4761	0.94989	0.0:1.0:0.0:0.0	.	982	Q9HCM2	PLXA4_HUMAN	R	982	ENSP00000323194:G982R;ENSP00000352882:G982R	ENSP00000323194:G982R	G	-	1	0	PLXNA4	131522819	1.000000	0.71417	0.975000	0.42487	0.989000	0.77384	7.461000	0.80834	2.615000	0.88500	0.555000	0.69702	GGA	PLXNA4	-	pfam_IPT,superfamily_Ig_E-set,smart_IPT	ENSG00000221866		0.567	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2		0.00	29	0	C	NM_181775		131872279	-1			no_errors	ENST00000321063	ensembl	human	known	74_37	missense	5.00	57	3	SNP	1.000	T
P2RY11	5032	genome.wustl.edu	37	19	10224819	10224819	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:10224819C>T	ENST00000321826.4	+	2	714	c.530C>T	c.(529-531)gCg>gTg	p.A177V	PPAN_ENST00000556468.1_Missense_Mutation_p.A597V|PPAN-P2RY11_ENST00000428358.1_3'UTR|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.A597V	NM_002566.4	NP_002557.2	Q96G91	P2Y11_HUMAN	purinergic receptor P2Y, G-protein coupled, 11	177					activation of adenylate cyclase activity (GO:0007190)|adenosine receptor signaling pathway (GO:0001973)|calcium-mediated signaling (GO:0019722)|cellular response to ATP (GO:0071318)|defense response (GO:0006952)|G-protein coupled receptor signaling pathway (GO:0007186)|neuronal signal transduction (GO:0023041)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|neurotransmitter receptor activity (GO:0030594)|receptor activity (GO:0004872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)	16			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CAGCAGGGGGCGGGCAACTGC	0.701																																																	0													14.0	17.0	16.0					19																	10224819		2181	4273	6454	SO:0001583	missense	0			AF030335	CCDS12226.1	19p13.2	2012-08-08			ENSG00000244165	ENSG00000244165		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8540	protein-coding gene	gene with protein product		602697				9405388	Standard	NM_002566		Approved	P2Y11		Q96G91	OTTHUMG00000150166	ENST00000321826.4:c.530C>T	19.37:g.10224819C>T	ENSP00000323872:p.Ala177Val		B2R8X9|O43190|Q9BYU4|Q9H170	Missense_Mutation	SNP	pfam_Brix,pfam_GPCR_Rhodpsn,superfamily_Anticodon-bd,smart_Brix,prints_GPCR_Rhodpsn,pfscan_Brix,pfscan_GPCR_Rhodpsn_7TM	p.A597V	ENST00000321826.4	37	c.1790	CCDS12226.1	19	.	.	.	.	.	.	.	.	.	.	C	5.584	0.292550	0.10567	.	.	ENSG00000243207;ENSG00000130810;ENSG00000244165	ENST00000393796;ENST00000556468;ENST00000321826	T;T;T	0.36157	1.27;1.27;1.27	2.71	-5.42	0.02640	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.22003	0.0530	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19484	-1.0304	9	0.25106	T	0.35	.	5.3998	0.16288	0.0:0.4146:0.1504:0.435	.	177	Q96G91	P2Y11_HUMAN	V	597;597;177	ENSP00000377385:A597V;ENSP00000450710:A597V;ENSP00000323872:A177V	ENSP00000323872:A177V	A	+	2	0	PPAN;P2RY11;PPAN-P2RY11	10085819	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.057000	0.11768	-1.710000	0.01397	-1.267000	0.01435	GCG	PPAN-P2RY11	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000243207		0.701	P2RY11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAN-P2RY11	HGNC	protein_coding	OTTHUMT00000316664.2	-	0.00	9	0	C	NM_002566		10224819	+1	tier1	-	no_errors	ENST00000393796	ensembl	human	known	74_37	missense	29.41	12	5	SNP	0.000	T
PPIB	5479	genome.wustl.edu	37	15	64455069	64455069	+	Silent	SNP	C	C	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr15:64455069C>G	ENST00000300026.3	-	1	335	c.117G>C	c.(115-117)ggG>ggC	p.G39G	PPIB_ENST00000558492.1_5'UTR	NM_000942.4	NP_000933.1	P23284	PPIB_HUMAN	peptidylprolyl isomerase B (cyclophilin B)	39					bone development (GO:0060348)|chaperone-mediated protein folding (GO:0061077)|extracellular matrix organization (GO:0030198)|positive regulation of multicellular organism growth (GO:0040018)|protein peptidyl-prolyl isomerization (GO:0000413)|protein stabilization (GO:0050821)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)	peptide binding (GO:0042277)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|unfolded protein binding (GO:0051082)			kidney(2)|large_intestine(2)|lung(6)	10					L-Proline(DB00172)	TGACTTTGGGCCCCTTCTTCT	0.667																																					GBM(105;399 1481 32889 33051 36637)												0													20.0	22.0	21.0					15																	64455069		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS10191.1	15q21-q22	2014-09-17			ENSG00000166794	ENSG00000166794	5.2.1.8		9255	protein-coding gene	gene with protein product		123841				2000394, 20089953	Standard	NM_000942		Approved	CYPB, OI9	uc002and.3	P23284	OTTHUMG00000133018	ENST00000300026.3:c.117G>C	15.37:g.64455069C>G			A8K534|Q6IBH5|Q9BVK5	Silent	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.G39	ENST00000300026.3	37	c.117	CCDS10191.1	15																																																																																			PPIB	-	NULL	ENSG00000166794		0.667	PPIB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIB	HGNC	protein_coding	OTTHUMT00000256604.1	-	0.00	113	0	C			64455069	-1	tier1	-	no_errors	ENST00000300026	ensembl	human	known	74_37	silent	27.04	116	43	SNP	0.969	G
PPP1R3A	5506	genome.wustl.edu	37	7	113519496	113519496	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:113519496T>G	ENST00000284601.3	-	4	1719	c.1651A>C	c.(1651-1653)Agt>Cgt	p.S551R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	551					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTGCCACACTTATTTTAGGG	0.413																																																	0													103.0	96.0	98.0					7																	113519496		2203	4300	6503	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1651A>C	7.37:g.113519496T>G	ENSP00000284601:p.Ser551Arg		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.S551R	ENST00000284601.3	37	c.1651	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	T	13.26	2.183747	0.38609	.	.	ENSG00000154415	ENST00000284601	T	0.18502	2.21	5.91	3.23	0.37069	.	0.572253	0.18110	N	0.151394	T	0.14830	0.0358	L	0.59436	1.845	0.09310	N	1	P	0.45902	0.868	B	0.36666	0.23	T	0.19353	-1.0308	10	0.72032	D	0.01	-0.4473	7.0056	0.24833	0.0:0.152:0.1284:0.7196	.	551	Q16821	PPR3A_HUMAN	R	551	ENSP00000284601:S551R	ENSP00000284601:S551R	S	-	1	0	PPP1R3A	113306732	0.000000	0.05858	0.003000	0.11579	0.008000	0.06430	0.393000	0.20817	1.064000	0.40671	0.533000	0.62120	AGT	PPP1R3A	-	NULL	ENSG00000154415		0.413	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	-	0.00	47	0	T	NM_002711		113519496	-1	tier1	-	no_errors	ENST00000284601	ensembl	human	known	74_37	missense	19.12	55	13	SNP	0.000	G
PPP6R1	22870	genome.wustl.edu	37	19	55751414	55751414	+	Frame_Shift_Del	DEL	T	T	-			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:55751414delT	ENST00000412770.2	-	12	1996	c.1430delA	c.(1429-1431)aacfs	p.N477fs	PPP6R1_ENST00000587283.1_Frame_Shift_Del_p.N477fs	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	477					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						CTTCTCCGTGTTCTGCACCAG	0.672																																																	0													16.0	19.0	18.0					19																	55751414		1945	4126	6071	SO:0001589	frameshift_variant	0			AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1430delA	19.37:g.55751414delT	ENSP00000414202:p.Asn477fs		Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Frame_Shift_Del	DEL	pfam_SAPS,superfamily_ARM-type_fold	p.N477fs	ENST00000412770.2	37	c.1430	CCDS46186.1	19																																																																																			PPP6R1	-	pfam_SAPS,superfamily_ARM-type_fold	ENSG00000105063		0.672	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP6R1	HGNC	protein_coding	OTTHUMT00000452663.1		0.00	41	0	T	NM_014931		55751414	-1	tier1		no_errors	ENST00000412770	ensembl	human	known	74_37	frame_shift_del	27.59	63	24	DEL	0.097	-
PRKAA2	5563	genome.wustl.edu	37	1	57173343	57173343	+	Missense_Mutation	SNP	T	T	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:57173343T>G	ENST00000371244.4	+	9	1682	c.1616T>G	c.(1615-1617)tTt>tGt	p.F539C		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	539					autophagy (GO:0006914)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|cellular response to glucose starvation (GO:0042149)|cellular response to nutrient levels (GO:0031669)|cholesterol biosynthetic process (GO:0006695)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of TOR signaling (GO:0032007)|positive regulation of autophagy (GO:0010508)|positive regulation of glycolytic process (GO:0045821)|protein phosphorylation (GO:0006468)|regulation of circadian rhythm (GO:0042752)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	[acetyl-CoA carboxylase] kinase activity (GO:0050405)|[hydroxymethylglutaryl-CoA reductase (NADPH)] kinase activity (GO:0047322)|AMP-activated protein kinase activity (GO:0004679)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone serine kinase activity (GO:0035174)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23					Acetylsalicylic acid(DB00945)	ACCATGGATTTTTTTGAAATG	0.418																																																	0													126.0	116.0	120.0					1																	57173343		2203	4300	6503	SO:0001583	missense	0			BC069823	CCDS605.1	1p31	2011-08-25			ENSG00000162409	ENSG00000162409			9377	protein-coding gene	gene with protein product		600497		PRKAA		7959015	Standard	NM_006252		Approved	AMPK, AMPKa2	uc001cyk.4	P54646	OTTHUMG00000008282	ENST00000371244.4:c.1616T>G	1.37:g.57173343T>G	ENSP00000360290:p.Phe539Cys		Q9H1E8|Q9UD43	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.F539C	ENST00000371244.4	37	c.1616	CCDS605.1	1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.603505	0.87157	.	.	ENSG00000162409	ENST00000371244	T	0.78707	-1.2	5.99	5.99	0.97316	.	0.000000	0.85682	D	0.000000	D	0.86810	0.6022	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87886	0.2681	10	0.87932	D	0	-27.1018	16.4943	0.84223	0.0:0.0:0.0:1.0	.	539	P54646	AAPK2_HUMAN	C	539	ENSP00000360290:F539C	ENSP00000360290:F539C	F	+	2	0	PRKAA2	56945931	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.698000	0.84413	2.291000	0.77112	0.533000	0.62120	TTT	PRKAA2	-	NULL	ENSG00000162409		0.418	PRKAA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAA2	HGNC	protein_coding	OTTHUMT00000022753.2	-	0.00	41	0	T	NM_006252		57173343	+1	tier1	-	no_errors	ENST00000371244	ensembl	human	known	74_37	missense	19.72	57	14	SNP	1.000	G
PRKDC	5591	genome.wustl.edu	37	8	48694817	48694817	+	Splice_Site	SNP	T	T	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr8:48694817T>G	ENST00000523565.1	-	80	11452		c.e80-2		PRKDC_ENST00000338368.3_Intron|PRKDC_ENST00000314191.2_Splice_Site			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AATCCTAACCTGAAAGGGAGA	0.453								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													64.0	65.0	64.0					8																	48694817		1903	4131	6034	SO:0001630	splice_region_variant	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.2057-2A>C	8.37:g.48694817T>G			P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	-	e81-2	ENST00000523565.1	37	c.11394-2		8	.	.	.	.	.	.	.	.	.	.	T	19.42	3.824901	0.71143	.	.	ENSG00000253729	ENST00000314191	.	.	.	4.94	4.94	0.65067	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.8944	0.70633	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKDC	48857370	1.000000	0.71417	0.960000	0.40013	0.852000	0.48524	6.937000	0.75898	1.984000	0.57885	0.533000	0.62120	.	PRKDC	-	-	ENSG00000253729		0.453	PRKDC-002	KNOWN	basic	processed_transcript	PRKDC	HGNC	protein_coding	OTTHUMT00000377896.1	-	0.00	44	0	T	NM_001081640	Intron	48694817	-1	tier1	-	no_errors	ENST00000314191	ensembl	human	known	74_37	splice_site	22.22	56	16	SNP	1.000	G
PRPF8	10594	genome.wustl.edu	37	17	1582137	1582137	+	Silent	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:1582137C>T	ENST00000572621.1	-	11	1903	c.1638G>A	c.(1636-1638)ctG>ctA	p.L546L	PRPF8_ENST00000304992.6_Silent_p.L546L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	546					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTTCCCGACACAGGTGGAAAG	0.478																																																	0													71.0	64.0	66.0					17																	1582137		2203	4300	6503	SO:0001819	synonymous_variant	0			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.1638G>A	17.37:g.1582137C>T			O14547|O75965	Silent	SNP	pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom	p.L546	ENST00000572621.1	37	c.1638	CCDS11010.1	17																																																																																			PRPF8	-	pfam_PROCN,superfamily_Histone-fold	ENSG00000174231		0.478	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	PRPF8	HGNC	protein_coding	OTTHUMT00000438412.2		0.00	10	0	C			1582137	-1			no_errors	ENST00000304992	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.994	T
PRRT4	401399	genome.wustl.edu	37	7	127990928	127990928	+	Silent	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:127990928G>A	ENST00000446477.2	-	6	2995	c.2682C>T	c.(2680-2682)agC>agT	p.S894S	PRRT4_ENST00000535159.1_Silent_p.S894S|PRRT4_ENST00000435512.1_Silent_p.S688S|PRRT4_ENST00000489835.2_3'UTR	NM_001174164.1	NP_001167635.1	C9JH25	PRRT4_HUMAN	proline-rich transmembrane protein 4	894						integral component of membrane (GO:0016021)				endometrium(4)|prostate(1)	5						CTATGGTGTCGCTGCCCACGC	0.632																																																	0													9.0	10.0	10.0					7																	127990928		692	1586	2278	SO:0001819	synonymous_variant	0			BC063892	CCDS47698.1, CCDS47698.2, CCDS55160.1	7q32.1	2011-10-10			ENSG00000224940	ENSG00000224940		"""Proline-rich transmembrane proteins"""	37280	protein-coding gene	gene with protein product							Standard	NM_001114726		Approved		uc022aky.1	C9JH25	OTTHUMG00000157714	ENST00000446477.2:c.2682C>T	7.37:g.127990928G>A			A4D0Z9|C9JVW7	Silent	SNP	NULL	p.S894	ENST00000446477.2	37	c.2682	CCDS55160.1	7																																																																																			PRRT4	-	NULL	ENSG00000224940		0.632	PRRT4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRT4	HGNC	protein_coding			0.00	19	0	G	NM_001114726		127990928	-1			no_errors	ENST00000446477	ensembl	human	known	74_37	silent	10.00	36	4	SNP	0.947	A
PTPN3	5774	genome.wustl.edu	37	9	112153417	112153417	+	Splice_Site	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:112153417C>T	ENST00000374541.2	-	21	2211		c.e21+1		PTPN3_ENST00000497739.1_Splice_Site|PTPN3_ENST00000412145.1_Splice_Site|PTPN3_ENST00000262539.3_Splice_Site|PTPN3_ENST00000446349.1_Splice_Site|PTPN3_ENST00000394827.3_Splice_Site	NM_001145368.1|NM_002829.3	NP_001138840.1|NP_002820.3	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3						negative regulation of membrane protein ectodomain proteolysis (GO:0051045)|negative regulation of mitotic cell cycle (GO:0045930)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of membrane depolarization during action potential (GO:0098902)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)	ATPase binding (GO:0051117)|phosphotyrosine binding (GO:0001784)|protein tyrosine phosphatase activity (GO:0004725)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCCTAACTTACGTTCACGTAA	0.458																																																	0													108.0	82.0	91.0					9																	112153417		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS6776.1, CCDS48000.1, CCDS48001.1	9q31	2011-06-09			ENSG00000070159	ENSG00000070159		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9655	protein-coding gene	gene with protein product		176877				1648725	Standard	NM_002829		Approved	PTPH1	uc004bed.2	P26045	OTTHUMG00000020475	ENST00000374541.2:c.2106+1G>A	9.37:g.112153417C>T			A0AUW9|E7EN99|E9PGU7	Splice_Site	SNP	-	e20+1	ENST00000374541.2	37	c.2106+1	CCDS6776.1	9	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328963	0.81690	.	.	ENSG00000070159	ENST00000394831;ENST00000412145;ENST00000446349;ENST00000374541;ENST00000394827;ENST00000262539	.	.	.	5.79	5.79	0.91817	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0411	0.97590	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PTPN3	111193238	1.000000	0.71417	0.997000	0.53966	0.812000	0.45895	7.335000	0.79234	2.739000	0.93911	0.655000	0.94253	.	PTPN3	-	-	ENSG00000070159		0.458	PTPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN3	HGNC	protein_coding	OTTHUMT00000053598.4		0.00	33	0	C		Intron	112153417	-1			no_errors	ENST00000374541	ensembl	human	known	74_37	splice_site	5.00	57	3	SNP	1.000	T
PXDN	7837	genome.wustl.edu	37	2	1683977	1683977	+	Missense_Mutation	SNP	C	C	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:1683977C>G	ENST00000252804.4	-	7	768	c.718G>C	c.(718-720)Gag>Cag	p.E240Q		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	240	LRRCT.				extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CAGTTCAGCTCTTCCGGGGTG	0.577																																																	0													44.0	47.0	46.0					2																	1683977		2187	4285	6472	SO:0001583	missense	0			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.718G>C	2.37:g.1683977C>G	ENSP00000252804:p.Glu240Gln		A8QM65|D6W4Y0|Q4KMG2	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom	p.E240Q	ENST00000252804.4	37	c.718	CCDS46221.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	c|c|c	19.62|19.62|19.62	3.861624|3.861624|3.861624	0.71949|0.71949|0.71949	.|.|.	.|.|.	ENSG00000130508|ENSG00000130508|ENSG00000130508	ENST00000252804;ENST00000425171|ENST00000433670|ENST00000447941	T;T|.|.	0.57273|.|.	0.63;0.41|.|.	4.64|4.64|4.64	4.64|4.64|4.64	0.57946|0.57946|0.57946	Cysteine-rich flanking region, C-terminal (1);|.|.	0.734639|.|.	0.10269|.|.	U|.|.	0.695054|.|.	T|T|T	0.76933|0.76933|0.76933	0.4057|0.4057|0.4057	M|M|M	0.78801|0.78801|0.78801	2.425|2.425|2.425	0.50632|0.50632|0.50632	D|D|D	0.999882|0.999882|0.999882	P;P|.|.	0.52316|.|.	0.538;0.952|.|.	B;P|.|.	0.49528|.|.	0.382;0.614|.|.	T|T|T	0.78778|0.78778|0.78778	-0.2071|-0.2071|-0.2071	10|5|5	0.48119|.|.	T|.|.	0.1|.|.	-44.4823|-44.4823|-44.4823	17.5839|17.5839|17.5839	0.87976|0.87976|0.87976	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	240;240|.|.	Q92626-2;Q92626|.|.	.;PXDN_HUMAN|.|.	Q|N|T	240;216|235|163	ENSP00000252804:E240Q;ENSP00000398363:E216Q|.|.	ENSP00000252804:E240Q|.|.	E|K|R	-|-|-	1|3|2	0|2|0	PXDN|PXDN|PXDN	1662984|1662984|1662984	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.983000|0.983000|0.983000	0.44433|0.44433|0.44433	0.296000|0.296000|0.296000	0.27459|0.27459|0.27459	7.704000|7.704000|7.704000	0.84595|0.84595|0.84595	2.139000|2.139000|2.139000	0.66308|0.66308|0.66308	0.444000|0.444000|0.444000	0.29173|0.29173|0.29173	GAG|AAG|AGA	PXDN	-	smart_Cys-rich_flank_reg_C	ENSG00000130508		0.577	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PXDN	HGNC	protein_coding	OTTHUMT00000322505.1		0.00	12	0	C	XM_056455		1683977	-1			no_errors	ENST00000252804	ensembl	human	known	74_37	missense	16.67	15	3	SNP	1.000	G
RAB32	10981	genome.wustl.edu	37	6	146870763	146870763	+	Silent	SNP	T	T	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:146870763T>G	ENST00000367495.3	+	2	593	c.414T>G	c.(412-414)gcT>gcG	p.A138A		NM_006834.3	NP_006825.1	Q13637	RAB32_HUMAN	RAB32, member RAS oncogene family	138					antigen processing and presentation (GO:0019882)|endosome to melanosome transport (GO:0035646)|GTP catabolic process (GO:0006184)|melanosome organization (GO:0032438)|phagosome maturation (GO:0090382)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|melanosome (GO:0042470)|membrane (GO:0016020)|mitochondrion (GO:0005739)|phagocytic vesicle (GO:0045335)	AP-1 adaptor complex binding (GO:0035650)|AP-3 adaptor complex binding (GO:0035651)|GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)|protein complex binding (GO:0032403)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	8		Ovarian(120;0.142)		OV - Ovarian serous cystadenocarcinoma(155;2.68e-09)|GBM - Glioblastoma multiforme(68;0.00608)		CTATCCCTGCTGTCCTCTTGG	0.443																																																	0													95.0	89.0	91.0					6																	146870763		2203	4300	6503	SO:0001819	synonymous_variant	0			U71127	CCDS5210.1	6q24.2	2010-08-20			ENSG00000118508	ENSG00000118508		"""RAB, member RAS oncogene"", ""A-kinase anchor proteins"""	9772	protein-coding gene	gene with protein product		612906					Standard	NM_006834		Approved		uc003qln.1	Q13637	OTTHUMG00000015755	ENST00000367495.3:c.414T>G	6.37:g.146870763T>G				Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,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.A138	ENST00000367495.3	37	c.414	CCDS5210.1	6																																																																																			RAB32	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000118508		0.443	RAB32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB32	HGNC	protein_coding	OTTHUMT00000042579.1	-	0.00	42	0	T	NM_006834		146870763	+1	tier1	-	no_errors	ENST00000367495	ensembl	human	known	74_37	silent	25.00	39	13	SNP	0.959	G
RGS4	5999	genome.wustl.edu	37	1	163042211	163042211	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:163042211G>T	ENST00000367909.6	+	2	411	c.71G>T	c.(70-72)gGt>gTt	p.G24V	RGS4_ENST00000531057.1_Missense_Mutation_p.G24V|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000367908.4_Missense_Mutation_p.G24V|RGS4_ENST00000367906.3_Missense_Mutation_p.G6V|RGS4_ENST00000421743.2_Missense_Mutation_p.G121V|RGS4_ENST00000527809.1_Missense_Mutation_p.G6V	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	24					inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						CATCGGCTAGGTTTCCTGCTG	0.378																																					Ovarian(76;1257 1738 3039 6086)												0													73.0	71.0	72.0					1																	163042211		2203	4300	6503	SO:0001583	missense	0			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.71G>T	1.37:g.163042211G>T	ENSP00000356885:p.Gly24Val		A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Missense_Mutation	SNP	pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.G121V	ENST00000367909.6	37	c.362	CCDS1243.1	1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.130377	0.56721	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000531057;ENST00000527809;ENST00000367908;ENST00000367906;ENST00000528938	T;T;D;T;T;T	0.86694	0.54;0.61;-2.16;0.39;0.39;0.01	4.52	3.59	0.41128	.	0.056421	0.64402	D	0.000001	D	0.91744	0.7389	M	0.85197	2.74	0.49798	D	0.999828	D;P;D	0.89917	0.996;0.609;1.0	P;B;D	0.91635	0.906;0.254;0.999	D	0.93049	0.6464	9	0.87932	D	0	.	12.2097	0.54373	0.0:0.1736:0.8264:0.0	.	24;24;121	B1APZ3;P49798;A7XA59	.;RGS4_HUMAN;.	V	121;24;24;6;24;6;6	ENSP00000397181:G121V;ENSP00000356885:G24V;ENSP00000436106:G24V;ENSP00000433261:G6V;ENSP00000356882:G6V;ENSP00000432194:G6V	ENSP00000356882:G6V	G	+	2	0	RGS4	161308835	0.997000	0.39634	0.556000	0.28293	0.937000	0.57800	2.731000	0.47343	1.083000	0.41159	0.655000	0.94253	GGT	RGS4	-	NULL	ENSG00000117152		0.378	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS4	HGNC	protein_coding	OTTHUMT00000083197.2	-	0.00	37	0	G	NM_005613		163042211	+1	tier1	-	no_errors	ENST00000421743	ensembl	human	known	74_37	missense	23.21	43	13	SNP	0.874	T
RPA1	6117	genome.wustl.edu	37	17	1792008	1792008	+	Missense_Mutation	SNP	C	C	T	rs139432886		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:1792008C>T	ENST00000254719.5	+	14	1524	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	472					base-excision repair (GO:0006284)|DNA recombinase assembly (GO:0000730)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of cell proliferation (GO:0008284)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|DNA replication factor A complex (GO:0005662)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|metal ion binding (GO:0046872)|single-stranded DNA binding (GO:0003697)			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GGTGTATCTTCGCAAAGAGAA	0.532								Nucleotide excision repair (NER)																																									0								C	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	114.0	101.0	105.0		1414	5.2	1.0	17	dbSNP_134	105	0,8600		0,0,4300	no	missense	RPA1	NM_002945.3	180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	472/617	1792008	1,13005	2203	4300	6503	SO:0001583	missense	0			M63488	CCDS11014.1	17p13.3	2008-02-05	2002-08-29		ENSG00000132383	ENSG00000132383			10289	protein-coding gene	gene with protein product		179835	"""replication protein A1 (70kD)"""			8454588	Standard	NM_002945		Approved	REPA1, RPA70, HSSB, RF-A, RP-A	uc002fto.2	P27694	OTTHUMG00000090579	ENST00000254719.5:c.1414C>T	17.37:g.1792008C>T	ENSP00000254719:p.Arg472Cys		A8K0Y9|Q59ES9	Missense_Mutation	SNP	pfam_Rep_factor-A_C,pfam_Rep_factor-A_N,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1	p.R472C	ENST00000254719.5	37	c.1414	CCDS11014.1	17	.	.	.	.	.	.	.	.	.	.	C	28.0	4.883485	0.91740	2.27E-4	0.0	ENSG00000132383	ENST00000254719	T	0.46451	0.87	6.17	5.21	0.72293	Nucleic acid-binding, OB-fold-like (1);Replication factor A, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.68412	0.2998	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.75116	-0.3431	10	0.87932	D	0	-5.9881	15.5517	0.76158	0.0:0.9345:0.0:0.0655	.	472	P27694	RFA1_HUMAN	C	472	ENSP00000254719:R472C	ENSP00000254719:R472C	R	+	1	0	RPA1	1738758	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.735000	0.55044	1.635000	0.50512	0.655000	0.94253	CGC	RPA1	-	pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold,tigrfam_Rep_factor_Rpa1	ENSG00000132383		0.532	RPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPA1	HGNC	protein_coding	OTTHUMT00000207118.2	-	0.00	40	0	C	NM_002945		1792008	+1	tier1	rs139432886	no_errors	ENST00000254719	ensembl	human	known	74_37	missense	32.69	35	17	SNP	1.000	T
RTN3	10313	genome.wustl.edu	37	11	63520048	63520048	+	Silent	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:63520048G>A	ENST00000377819.5	+	5	2962	c.2808G>A	c.(2806-2808)gtG>gtA	p.V936V	RTN3_ENST00000341307.2_Silent_p.V140V|RTN3_ENST00000540798.1_Silent_p.V824V|RTN3_ENST00000356000.3_Silent_p.V159V|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000537981.1_Silent_p.V140V|RTN3_ENST00000339997.4_Silent_p.V917V	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	936	Reticulon. {ECO:0000255|PROSITE- ProRule:PRU00170}.				apoptotic process (GO:0006915)|endoplasmic reticulum tubular network organization (GO:0071786)|response to stress (GO:0006950)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CTGCCATGGTGCACATCAACA	0.428																																																	0													183.0	175.0	178.0					11																	63520048		2201	4298	6499	SO:0001819	synonymous_variant	0			AF059524	CCDS8048.1, CCDS8049.1, CCDS8050.1, CCDS41664.1, CCDS58141.1, CCDS58142.1, CCDS58143.1	11q13	2011-01-14			ENSG00000133318	ENSG00000133318			10469	protein-coding gene	gene with protein product	"""neuroendocrine-specific protein-like 2"", ""NSP-like protein II"", ""isoforme III"", ""ASY interacting protein"", ""homolog of ASY protein"""	604249				10331947	Standard	NM_006054		Approved	NSPL2, NSPLII, ASYIP, HAP, RTN3-A1	uc001nxq.3	O95197		ENST00000377819.5:c.2808G>A	11.37:g.63520048G>A			B3KQS2|B7Z308|B7Z4M0|F5H774|Q147U9|Q496K2|Q53GN3|Q59EP0|Q5UEP2|Q6T930|Q7RTM7|Q7RTM8|Q7RTN3	Silent	SNP	pfam_Reticulon,pfscan_Reticulon	p.V936	ENST00000377819.5	37	c.2808	CCDS58141.1	11																																																																																			RTN3	-	pfam_Reticulon,pfscan_Reticulon	ENSG00000133318		0.428	RTN3-002	KNOWN	basic|CCDS	protein_coding	RTN3	HGNC	protein_coding	OTTHUMT00000397846.1	-	0.00	34	0	G	NM_006054		63520048	+1	tier1	-	no_errors	ENST00000377819	ensembl	human	known	74_37	silent	6.67	56	4	SNP	0.997	A
SAMD4B	55095	genome.wustl.edu	37	19	39860506	39860506	+	Silent	SNP	A	A	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:39860506A>T	ENST00000314471.6	+	6	1443	c.408A>T	c.(406-408)acA>acT	p.T136T	RN7SL566P_ENST00000467650.2_RNA|SAMD4B_ENST00000598913.1_Silent_p.T136T|SAMD4B_ENST00000596368.1_Silent_p.T136T	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	136					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CAGCCACCACACTGGAGGACC	0.607																																																	0													58.0	44.0	49.0					19																	39860506		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.408A>T	19.37:g.39860506A>T			A5Z0M6|Q6P194	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.T136	ENST00000314471.6	37	c.408	CCDS33020.1	19																																																																																			SAMD4B	-	NULL	ENSG00000179134		0.607	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4B	HGNC	protein_coding	OTTHUMT00000464467.1		0.00	50	0	A	NM_018028		39860506	+1			no_errors	ENST00000314471	ensembl	human	known	74_37	silent	5.41	70	4	SNP	0.024	T
SEC23A	10484	genome.wustl.edu	37	14	39555000	39555001	+	Frame_Shift_Ins	INS	-	-	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:39555000_39555001insT	ENST00000307712.6	-	7	1310_1311	c.793_794insA	c.(793-795)gggfs	p.G265fs	SEC23A_ENST00000545328.2_Frame_Shift_Ins_p.G236fs|SEC23A_ENST00000536508.1_Frame_Shift_Ins_p.G139fs|SEC23A_ENST00000537403.1_Frame_Shift_Ins_p.G63fs	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	265					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AAGTGCCACCCCAGAGGAACGC	0.485																																																	0																																										SO:0001589	frameshift_variant	0			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.793_794insA	14.37:g.39555000_39555001insT	ENSP00000306881:p.Gly265fs		B2R5P4|B3KXI2|Q8NE16	Frame_Shift_Ins	INS	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.G265fs	ENST00000307712.6	37	c.794_793	CCDS9668.1	14																																																																																			SEC23A	-	pfam_Sec23/24_trunk_dom	ENSG00000100934		0.485	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23A	HGNC	protein_coding	OTTHUMT00000276728.2		0.00	68	0	-			39555001	-1	tier1		no_errors	ENST00000307712	ensembl	human	known	74_37	frame_shift_ins	10.26	70	8	INS	1.000:1.000	T
SEPT2	4735	genome.wustl.edu	37	2	242282453	242282453	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:242282453C>T	ENST00000391973.2	+	8	1169	c.641C>T	c.(640-642)cCt>cTt	p.P214L	SEPT2_ENST00000407971.1_Missense_Mutation_p.P174L|SEPT2_ENST00000401990.1_Missense_Mutation_p.P224L|SEPT2_ENST00000391971.2_Missense_Mutation_p.P214L|SEPT2_ENST00000360051.3_Missense_Mutation_p.P214L|SEPT2_ENST00000402092.2_Missense_Mutation_p.P214L	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	214	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		TATCACTTACCTGATGCAGAA	0.348																																																	0													109.0	117.0	115.0					2																	242282453		2203	4300	6503	SO:0001583	missense	0			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.641C>T	2.37:g.242282453C>T	ENSP00000375834:p.Pro214Leu		B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin,prints_Septin2	p.P214L	ENST00000391973.2	37	c.641	CCDS2548.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.813573	0.96975	.	.	ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717	T;T;T;T;T;T;T;T	0.78707	0.59;0.59;0.59;0.59;0.59;-1.2;0.59;-1.2	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	D	0.89319	0.6681	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	1.0;0.998;0.994	D;D;D	0.80764	0.994;0.939;0.975	D	0.89648	0.3867	10	0.87932	D	0	.	20.2422	0.98381	0.0:1.0:0.0:0.0	.	249;174;214	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	L	214;174;214;214;224;174;214;249;69	ENSP00000375834:P214L;ENSP00000397195:P174L;ENSP00000353157:P214L;ENSP00000375832:P214L;ENSP00000385109:P224L;ENSP00000384525:P174L;ENSP00000385172:P214L;ENSP00000408296:P69L	ENSP00000353157:P214L	P	+	2	0	SEPT2	241931126	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.332000	0.79203	2.782000	0.95742	0.655000	0.94253	CCT	SEPT2	-	pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin	ENSG00000168385		0.348	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT2	HGNC	protein_coding	OTTHUMT00000323177.3	-	0.00	34	0	C	NM_006155		242282453	+1	tier1	-	no_errors	ENST00000360051	ensembl	human	known	74_37	missense	9.38	29	3	SNP	1.000	T
SERPINA12	145264	genome.wustl.edu	37	14	94964377	94964377	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:94964377T>A	ENST00000341228.2	-	3	1153	c.358A>T	c.(358-360)Atc>Ttc	p.I120F	SERPINA12_ENST00000556881.1_Missense_Mutation_p.I120F	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	120					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		AGCTCGTGGATGATGTAATGG	0.522																																																	0													151.0	149.0	150.0					14																	94964377		2203	4300	6503	SO:0001583	missense	0			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.358A>T	14.37:g.94964377T>A	ENSP00000342109:p.Ile120Phe			Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.I120F	ENST00000341228.2	37	c.358	CCDS9926.1	14	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771877	0.31320	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.87809	-2.3;-2.3	5.49	0.478	0.16789	Serpin domain (3);	0.486553	0.18649	N	0.135074	T	0.82268	0.5000	L	0.58101	1.795	0.09310	N	1	B	0.23990	0.095	B	0.29077	0.098	T	0.71813	-0.4479	10	0.62326	D	0.03	.	5.5218	0.16938	0.0852:0.0735:0.3923:0.449	.	120	Q8IW75	SPA12_HUMAN	F	120	ENSP00000451738:I120F;ENSP00000342109:I120F	ENSP00000342109:I120F	I	-	1	0	SERPINA12	94034130	0.170000	0.23016	0.000000	0.03702	0.001000	0.01503	-0.034000	0.12225	-0.434000	0.07275	-1.042000	0.02369	ATC	SERPINA12	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	ENSG00000165953		0.522	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA12	HGNC	protein_coding	OTTHUMT00000413097.1	-	0.00	43	0	T	NM_173850		94964377	-1	tier1	-	no_errors	ENST00000341228	ensembl	human	known	74_37	missense	17.24	48	10	SNP	0.005	A
SFRP4	6424	genome.wustl.edu	37	7	37955709	37955709	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:37955709G>A	ENST00000436072.2	-	1	808	c.431C>T	c.(430-432)aCg>aTg	p.T144M	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	144					brain development (GO:0007420)|cell differentiation (GO:0030154)|decidualization (GO:0046697)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|menstrual cycle phase (GO:0022601)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of JNK cascade (GO:0046329)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of sodium-dependent phosphate transport (GO:2000119)|phosphate ion homeostasis (GO:0055062)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epidermal cell differentiation (GO:0045606)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of receptor internalization (GO:0002092)|response to hormone (GO:0009725)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CGGGAGGTCCGTGACGATGGC	0.647																																																	0													46.0	44.0	45.0					7																	37955709		2203	4300	6503	SO:0001583	missense	0			AF026692	CCDS5453.1	7p14.1	2008-07-18			ENSG00000106483	ENSG00000106483		"""Secreted frizzled-related proteins"""	10778	protein-coding gene	gene with protein product		606570				10211996	Standard	NM_003014		Approved	frpHE, FRP-4, FRPHE	uc003tfo.4	Q6FHJ7	OTTHUMG00000023026	ENST00000436072.2:c.431C>T	7.37:g.37955709G>A	ENSP00000410715:p.Thr144Met		B4DYC1|O14877|Q05BG7|Q1ZYW2|Q4G124|Q6FHM0|Q6PD64	Missense_Mutation	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.T144M	ENST00000436072.2	37	c.431	CCDS5453.1	7	.	.	.	.	.	.	.	.	.	.	G	17.24	3.340200	0.60963	.	.	ENSG00000106483	ENST00000436072;ENST00000446575	T	0.66460	-0.21	4.08	4.08	0.47627	Frizzled domain (1);	0.171992	0.51477	D	0.000084	T	0.70587	0.3241	L	0.38175	1.15	0.41610	D	0.988903	D	0.89917	1.0	P	0.59288	0.855	T	0.75246	-0.3385	10	0.66056	D	0.02	.	15.2	0.73130	0.0:0.0:1.0:0.0	.	144	Q6FHJ7	SFRP4_HUMAN	M	144;141	ENSP00000410715:T144M	ENSP00000410715:T144M	T	-	2	0	SFRP4	37922234	1.000000	0.71417	0.998000	0.56505	0.963000	0.63663	7.103000	0.77014	2.097000	0.63578	0.650000	0.86243	ACG	SFRP4	-	superfamily_Frizzled_dom	ENSG00000106483		0.647	SFRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFRP4	HGNC	protein_coding	OTTHUMT00000220017.2	-	0.00	31	0	G	NM_003014		37955709	-1	tier1	-	no_errors	ENST00000436072	ensembl	human	known	74_37	missense	23.08	60	18	SNP	0.987	A
SIPA1L1	26037	genome.wustl.edu	37	14	72137868	72137868	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:72137868C>T	ENST00000555818.1	+	8	2636	c.2288C>T	c.(2287-2289)tCc>tTc	p.S763F	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.S238F|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.S763F|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.S763F	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	763	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GATGTGCCTTCCTTTGGGCCT	0.438																																																	0													246.0	237.0	240.0					14																	72137868		2203	4300	6503	SO:0001583	missense	0			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.2288C>T	14.37:g.72137868C>T	ENSP00000450832:p.Ser763Phe		J3KP19|O95321|Q9UDU4|Q9UNU4	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.S763F	ENST00000555818.1	37	c.2288	CCDS9807.1	14	.	.	.	.	.	.	.	.	.	.	C	20.8	4.052772	0.75960	.	.	ENSG00000197555	ENST00000381232;ENST00000555818;ENST00000358550;ENST00000537413	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.91	5.91	0.95273	Rap/ran-GAP (2);	0.156244	0.64402	D	0.000014	D	0.90380	0.6989	N	0.03029	-0.43	0.47819	D	0.99952	P;B;P;B;P	0.52463	0.951;0.056;0.953;0.171;0.918	P;B;P;B;P	0.59761	0.847;0.233;0.863;0.137;0.694	D	0.92635	0.6119	10	0.62326	D	0.03	-25.2962	15.7416	0.77901	0.0:0.8642:0.1358:0.0	.	238;763;238;763;763	F5GYF8;A6H8W6;B4DYX7;O43166-2;O43166	.;.;.;.;SI1L1_HUMAN	F	763;763;763;238	ENSP00000370630:S763F;ENSP00000450832:S763F;ENSP00000351352:S763F;ENSP00000440682:S238F	ENSP00000351352:S763F	S	+	2	0	SIPA1L1	71207621	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.840000	0.62817	2.813000	0.96785	0.655000	0.94253	TCC	SIPA1L1	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000197555		0.438	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	-	0.00	61	0	C	NM_015556		72137868	+1	tier1	-	no_errors	ENST00000555818	ensembl	human	known	74_37	missense	13.75	69	11	SNP	1.000	T
SIPA1L2	57568	genome.wustl.edu	37	1	232615466	232615466	+	Silent	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:232615466C>T	ENST00000366630.1	-	6	2350	c.1992G>A	c.(1990-1992)acG>acA	p.T664T	SIPA1L2_ENST00000262861.4_Silent_p.T664T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	664	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGTGCGTGCCCGTGGAATCAG	0.413																																																	0													149.0	160.0	157.0					1																	232615466		2090	4254	6344	SO:0001819	synonymous_variant	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.1992G>A	1.37:g.232615466C>T			Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom	p.T664	ENST00000366630.1	37	c.1992	CCDS41474.1	1																																																																																			SIPA1L2	-	pfam_Rap_GAP_dom,pfscan_Rap_GAP_dom	ENSG00000116991		0.413	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	-	0.00	62	0	C	XM_045839		232615466	-1	tier1	-	no_errors	ENST00000262861	ensembl	human	known	74_37	silent	21.18	67	18	SNP	0.014	T
SLC27A6	28965	genome.wustl.edu	37	5	128351577	128351577	+	Splice_Site	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:128351577G>T	ENST00000262462.4	+	5	1979		c.e5-1		SLC27A6_ENST00000506176.1_Splice_Site|SLC27A6_ENST00000395266.1_Splice_Site			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6						long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		TCTTCTAACAGAGAGAAGGAG	0.308																																																	0													86.0	88.0	87.0					5																	128351577		2203	4300	6503	SO:0001630	splice_region_variant	0			AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.970-1G>T	5.37:g.128351577G>T			Q6IAM5|Q7Z6E6|Q86YF6	Splice_Site	SNP	-	e5-1	ENST00000262462.4	37	c.970-1	CCDS4145.1	5	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578106	0.45902	.	.	ENSG00000113396	ENST00000508645;ENST00000262462;ENST00000395266;ENST00000506176	.	.	.	3.92	3.92	0.45320	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3065	0.87196	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC27A6	128379476	1.000000	0.71417	1.000000	0.80357	0.500000	0.33767	8.921000	0.92784	2.499000	0.84300	0.461000	0.40582	.	SLC27A6	-	-	ENSG00000113396		0.308	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A6	HGNC	protein_coding	OTTHUMT00000250980.1		0.00	28	0	G	NM_014031	Intron	128351577	+1			no_errors	ENST00000262462	ensembl	human	known	74_37	splice_site	7.69	48	4	SNP	1.000	T
SLC2A14	144195	genome.wustl.edu	37	12	7966969	7966969	+	Silent	SNP	G	G	A	rs143806494		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:7966969G>A	ENST00000543909.1	-	16	2265	c.1506C>T	c.(1504-1506)gaC>gaT	p.D502D	SLC2A14_ENST00000340749.5_Silent_p.D479D|SLC2A14_ENST00000542546.1_Silent_p.D393D|SLC2A14_ENST00000542505.1_Silent_p.D143D|SLC2A14_ENST00000535295.1_Silent_p.D393D|SLC2A14_ENST00000396589.2_Silent_p.D502D|SLC2A14_ENST00000539924.1_Silent_p.D517D|SLC2A14_ENST00000431042.2_Silent_p.D479D			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	502					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CCATGACGCCGTCCTTCCCAG	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0																0								G		1,4405	2.1+/-5.4	0,1,2202	227.0	148.0	175.0		1506	-0.0	0.0	12	dbSNP_134	175	0,8598		0,0,4299	no	coding-synonymous	SLC2A14	NM_153449.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		502/521	7966969	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	0			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1506C>T	12.37:g.7966969G>A			B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Silent	SNP	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.D502	ENST00000543909.1	37	c.1506	CCDS8585.1	12																																																																																			SLC2A14	-	NULL	ENSG00000173262		0.562	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	SLC2A14	HGNC	protein_coding	OTTHUMT00000399836.2	-	0.00	38	0	G	NM_153449		7966969	-1	tier1	rs143806494	no_errors	ENST00000396589	ensembl	human	known	74_37	silent	43.40	30	23	SNP	0.001	A
SLC44A4	80736	genome.wustl.edu	37	6	31838676	31838676	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr6:31838676G>A	ENST00000229729.6	-	10	870	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	SLC44A4_ENST00000375562.4_Missense_Mutation_p.R242W|SLC44A4_ENST00000544672.1_Missense_Mutation_p.R208W	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	284					acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CCCTTGTCCCGCAGCACTCGG	0.662																																																	0													68.0	57.0	61.0					6																	31838676		1511	2709	4220	SO:0001583	missense	0			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.850C>T	6.37:g.31838676G>A	ENSP00000229729:p.Arg284Trp		A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.R284W	ENST00000229729.6	37	c.850	CCDS4724.2	6	.	.	.	.	.	.	.	.	.	.	G	13.12	2.140840	0.37825	.	.	ENSG00000204385	ENST00000229729;ENST00000375562;ENST00000544672	T;T;T	0.12465	3.04;2.68;2.87	4.38	2.51	0.30379	.	0.331618	0.29046	N	0.013302	T	0.06645	0.0170	M	0.71581	2.175	0.34085	D	0.660046	P;B	0.35077	0.483;0.351	B;B	0.25759	0.063;0.063	T	0.08452	-1.0721	10	0.87932	D	0	-29.5861	11.4263	0.50012	0.0:0.0:0.3962:0.6037	.	242;284	E9PEK7;Q53GD3	.;CTL4_HUMAN	W	284;242;208	ENSP00000229729:R284W;ENSP00000364712:R242W;ENSP00000444109:R208W	ENSP00000229729:R284W	R	-	1	2	SLC44A4	31946655	0.018000	0.18449	0.985000	0.45067	0.881000	0.50899	0.952000	0.29149	0.549000	0.28973	-0.314000	0.08810	CGG	SLC44A4	-	NULL	ENSG00000204385		0.662	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC44A4	HGNC	protein_coding	OTTHUMT00000076234.3		0.00	32	0	G			31838676	-1			no_errors	ENST00000229729	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.983	A
SLC4A3	6508	genome.wustl.edu	37	2	220501482	220501482	+	Silent	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:220501482G>T	ENST00000358055.3	+	16	2933	c.2421G>T	c.(2419-2421)ctG>ctT	p.L807L	SLC4A3_ENST00000273063.6_Silent_p.L834L|SLC4A3_ENST00000317151.3_Silent_p.L807L|SLC4A3_ENST00000373760.2_Silent_p.L807L|SLC4A3_ENST00000373762.3_Silent_p.L834L			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	807	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTTGCCCTGGTGGCCGCCG	0.592																																																	0													188.0	169.0	175.0					2																	220501482		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.2421G>T	2.37:g.220501482G>T			A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk	p.L834	ENST00000358055.3	37	c.2502	CCDS2445.1	2																																																																																			SLC4A3	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000114923		0.592	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC4A3	HGNC	protein_coding	OTTHUMT00000316472.1		0.00	51	0	G	NM_005070		220501482	+1			no_errors	ENST00000273063	ensembl	human	known	74_37	silent	5.19	73	4	SNP	0.965	T
SLC6A11	6538	genome.wustl.edu	37	3	10861207	10861207	+	Missense_Mutation	SNP	T	T	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:10861207T>C	ENST00000254488.2	+	2	380	c.314T>C	c.(313-315)tTc>tCc	p.F105S	SLC6A11_ENST00000454147.1_Missense_Mutation_p.F105S	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	105					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	CCTGTTTTTTTCCTGGAGACA	0.433																																																	0													178.0	177.0	177.0					3																	10861207		2203	4300	6503	SO:0001583	missense	0			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.314T>C	3.37:g.10861207T>C	ENSP00000254488:p.Phe105Ser		B2R6U6|Q8IYC9	Missense_Mutation	SNP	pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3	p.F105S	ENST00000254488.2	37	c.314	CCDS2602.1	3	.	.	.	.	.	.	.	.	.	.	T	26.9	4.785356	0.90282	.	.	ENSG00000132164	ENST00000254488;ENST00000454147	T;T	0.80738	-1.41;-1.41	5.12	5.12	0.69794	.	0.098139	0.64402	D	0.000001	D	0.91845	0.7419	H	0.94462	3.54	0.80722	D	1	D	0.58970	0.984	D	0.64410	0.925	D	0.94099	0.7360	10	0.87932	D	0	.	15.2296	0.73378	0.0:0.0:0.0:1.0	.	105	P48066	S6A11_HUMAN	S	105	ENSP00000254488:F105S;ENSP00000404120:F105S	ENSP00000254488:F105S	F	+	2	0	SLC6A11	10836207	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.887000	0.87295	2.052000	0.61016	0.533000	0.62120	TTC	SLC6A11	-	pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000132164		0.433	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A11	HGNC	protein_coding	OTTHUMT00000251927.1	-	0.00	83	0	T	NM_014229		10861207	+1	tier1	-	no_errors	ENST00000254488	ensembl	human	known	74_37	missense	18.32	107	24	SNP	1.000	C
SLC4A7	9497	genome.wustl.edu	37	3	27436095	27436095	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr3:27436095A>C	ENST00000295736.5	-	20	3074	c.3004T>G	c.(3004-3006)Ttt>Gtt	p.F1002V	SLC4A7_ENST00000435667.2_Missense_Mutation_p.F887V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.F552V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000455077.1_Missense_Mutation_p.F883V|SLC4A7_ENST00000446700.1_Missense_Mutation_p.F994V|SLC4A7_ENST00000428386.1_Missense_Mutation_p.F878V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.F998V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.F1011V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.F883V|SLC4A7_ENST00000445684.1_Missense_Mutation_p.F998V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1002					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	ATTCCCAAAAACTTGGGTTGT	0.413																																																	0													80.0	79.0	79.0					3																	27436095		2203	4300	6503	SO:0001583	missense	0			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.3004T>G	3.37:g.27436095A>C	ENSP00000295736:p.Phe1002Val		A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.F1011V	ENST00000295736.5	37	c.3031	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	A	29.7	5.025883	0.93518	.	.	ENSG00000033867	ENST00000419036;ENST00000295736;ENST00000428386;ENST00000454389;ENST00000440156;ENST00000437179;ENST00000446700;ENST00000455077;ENST00000445684;ENST00000435667;ENST00000388777;ENST00000428179	T;T;T;T;T;T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.77	5.77	0.91146	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87374	0.6161	M	0.71920	2.185	0.80722	D	1	D;D;D;D;D;P;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;0.931;1.0;1.0;1.0	D;D;D;D;D;P;D;D;D	0.97110	0.999;1.0;0.999;0.999;0.999;0.747;0.999;0.999;1.0	D	0.88183	0.2872	10	0.59425	D	0.04	.	16.0958	0.81123	1.0:0.0:0.0:0.0	.	998;883;994;998;1011;552;878;1002;883	E9PFN4;B5M452;E9PGC1;B5M453;E9PDL9;F8W7E6;Q9Y6M7-2;Q9Y6M7;B2CI53	.;.;.;.;.;.;.;S4A7_HUMAN;.	V	553;1002;878;1011;998;883;994;883;998;887;552;898	ENSP00000411031:F553V;ENSP00000295736:F1002V;ENSP00000416368:F878V;ENSP00000390394:F1011V;ENSP00000414797:F998V;ENSP00000394252:F883V;ENSP00000406605:F994V;ENSP00000407382:F883V;ENSP00000406804:F998V;ENSP00000395336:F887V;ENSP00000373429:F552V;ENSP00000388703:F898V	ENSP00000295736:F1002V	F	-	1	0	SLC4A7	27411099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.203000	0.70933	0.482000	0.46254	TTT	SLC4A7	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000033867		0.413	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	-	0.00	58	0	A	NM_003615		27436095	-1	tier1	-	no_errors	ENST00000454389	ensembl	human	known	74_37	missense	14.61	76	13	SNP	1.000	C
SLC7A9	11136	genome.wustl.edu	37	19	33355051	33355051	+	Silent	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:33355051G>T	ENST00000023064.4	-	4	620	c.429C>A	c.(427-429)ggC>ggA	p.G143G	SLC7A9_ENST00000587772.1_Silent_p.G143G|SLC7A9_ENST00000590341.1_Silent_p.G143G|RN7SKP22_ENST00000365097.1_RNA	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	143					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GAGGCTTGCAGCCCACATAGA	0.587																																					GBM(181;1335 2108 9644 44178 46689)												0													92.0	74.0	80.0					19																	33355051		2203	4300	6503	SO:0001819	synonymous_variant	0			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.429C>A	19.37:g.33355051G>T			B2R9A6	Silent	SNP	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.G143	ENST00000023064.4	37	c.429	CCDS12425.1	19																																																																																			SLC7A9	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	ENSG00000021488		0.587	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	-	0.00	34	0	G			33355051	-1	tier1	-	no_errors	ENST00000023064	ensembl	human	known	74_37	silent	20.37	43	11	SNP	1.000	T
SP8	221833	genome.wustl.edu	37	7	20824098	20824098	+	Silent	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr7:20824098G>A	ENST00000361443.4	-	3	1521	c.1284C>T	c.(1282-1284)agC>agT	p.S428S	SP8_ENST00000418710.2_Silent_p.S446S	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	428					dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						TGAGGTGGTCGCTGCGCATGA	0.701																																																	0													15.0	13.0	14.0					7																	20824098		2113	4183	6296	SO:0001819	synonymous_variant	0				CCDS5372.1, CCDS43555.1	7p21.2	2013-01-08			ENSG00000164651	ENSG00000164651		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	19196	protein-coding gene	gene with protein product		608306					Standard	NM_182700		Approved		uc003suz.3	Q8IXZ3	OTTHUMG00000094788	ENST00000361443.4:c.1284C>T	7.37:g.20824098G>A			Q7Z615|Q7Z616|Q96MJ1	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1	p.S446	ENST00000361443.4	37	c.1338	CCDS5372.1	7																																																																																			SP8	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000164651		0.701	SP8-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SP8	HGNC	protein_coding	OTTHUMT00000326904.2	-	0.00	19	0	G			20824098	-1	tier1	-	no_errors	ENST00000418710	ensembl	human	known	74_37	silent	29.41	24	10	SNP	1.000	A
SPATA1	100505741	genome.wustl.edu	37	1	84982041	84982041	+	RNA	SNP	A	A	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:84982041A>C	ENST00000370638.2	+	0	264							Q5VX52	SPAT1_HUMAN	spermatogenesis associated 1											breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|prostate(1)	10				Epithelial(280;4.36e-10)|all cancers(265;7.1e-09)|BRCA - Breast invasive adenocarcinoma(282;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(397;0.00286)|KIRC - Kidney renal clear cell carcinoma(1967;0.0111)		ACATTAGTGAATATGTCACTC	0.259																																																	0													22.0	22.0	22.0					1																	84982041		2189	4273	6462			0			AF306347		1p22.3	2011-05-24			ENSG00000122432	ENSG00000122432			14682	protein-coding gene	gene with protein product							Standard	XM_005275883		Approved	SP-2	uc021opb.1	Q5VX52	OTTHUMG00000009924		1.37:g.84982041A>C			A0PJU9|Q0VDJ9|Q0VDK0|Q6P386|Q9HAR4	RNA	SNP	-	NULL	ENST00000370638.2	37	NULL		1																																																																																			SPATA1	-	-	ENSG00000122432		0.259	SPATA1-007	KNOWN	basic	processed_transcript	SPATA1	HGNC	pseudogene	OTTHUMT00000314701.1	-	0.00	75	0	A	NM_022354		84982041	+1	tier1	-	no_errors	ENST00000370638	ensembl	human	known	74_37	rna	16.04	89	17	SNP	0.031	C
SPG20	23111	genome.wustl.edu	37	13	36888568	36888568	+	Intron	SNP	A	A	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr13:36888568A>G	ENST00000451493.1	-	6	1506				SPG20_ENST00000494062.2_Intron|SPG20_ENST00000355182.4_Intron|SPG20_ENST00000438666.2_Intron	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)						abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CCTTTTTAAAAGAAAATTTAA	0.348																																																	0													49.0	51.0	50.0					13																	36888568		2203	4299	6502	SO:0001627	intron_variant	0			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.1289-10T>C	13.37:g.36888568A>G			O60349|Q86Y67|Q9H1T2|Q9H1T3	RNA	SNP	-	NULL	ENST00000451493.1	37	NULL	CCDS9356.1	13																																																																																			SPG20	-	-	ENSG00000133104		0.348	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG20	HGNC	protein_coding	OTTHUMT00000044494.2	-	0.00	29	0	A			36888568	-1	tier1	-	no_errors	ENST00000482146	ensembl	human	known	74_37	rna	19.05	34	8	SNP	0.477	G
SPIRE2	84501	genome.wustl.edu	37	16	89925576	89925576	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr16:89925576G>T	ENST00000378247.3	+	9	1319	c.1276G>T	c.(1276-1278)Gaa>Taa	p.E426*	SPIRE2_ENST00000393062.2_Nonsense_Mutation_p.E426*	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	426					actin cytoskeleton organization (GO:0030036)|cleavage furrow formation (GO:0036089)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|intracellular transport (GO:0046907)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		TCCACAGGAAGAAGAGTCTCC	0.652																																																	0													73.0	68.0	70.0					16																	89925576		2197	4300	6497	SO:0001587	stop_gained	0			AL834408	CCDS32516.1	16q24	2013-08-27	2013-08-27			ENSG00000204991			30623	protein-coding gene	gene with protein product		609217	"""spire homolog 2 (Drosophila)"", ""spire family actin nucleation factor 2"""			11347906	Standard	NM_032451		Approved	spir-2, KIAA1832	uc002foz.1	Q8WWL2		ENST00000378247.3:c.1276G>T	16.37:g.89925576G>T	ENSP00000367494:p.Glu426*		A4QPB1|Q2TA98|Q6P433|Q8ND47|Q96JJ5	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_KIND	p.E426*	ENST00000378247.3	37	c.1276	CCDS32516.1	16	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865816	0.91511	.	.	ENSG00000204991	ENST00000378247;ENST00000393062	.	.	.	5.33	5.33	0.75918	.	0.087311	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	-11.0239	16.88	0.86060	0.0:0.0:1.0:0.0	.	.	.	.	X	426	.	ENSP00000367494:E426X	E	+	1	0	SPIRE2	88453077	1.000000	0.71417	0.998000	0.56505	0.560000	0.35617	7.606000	0.82863	2.659000	0.90383	0.655000	0.94253	GAA	SPIRE2	-	NULL	ENSG00000204991		0.652	SPIRE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPIRE2	HGNC	protein_coding	OTTHUMT00000421843.1	-	0.00	72	0	G	XM_047462		89925576	+1	tier1	-	no_errors	ENST00000378247	ensembl	human	known	74_37	nonsense	6.35	59	4	SNP	1.000	T
SPTA1	6708	genome.wustl.edu	37	1	158654912	158654912	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:158654912G>T	ENST00000368147.4	-	2	430	c.250C>A	c.(250-252)Cca>Aca	p.P84T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	84					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATATTAGTTGGGTCTTCATAG	0.393																																																	0													117.0	111.0	113.0					1																	158654912		1893	4122	6015	SO:0001583	missense	0			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.250C>A	1.37:g.158654912G>T	ENSP00000357129:p.Pro84Thr		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.P84T	ENST00000368147.4	37	c.250	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	G	16.98	3.272711	0.59649	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50548	0.74;0.74	5.18	3.28	0.37604	.	0.000000	0.31989	N	0.006757	T	0.35566	0.0936	M	0.74546	2.27	0.44366	D	0.997262	B	0.19200	0.034	B	0.36808	0.233	T	0.21965	-1.0230	10	0.29301	T	0.29	.	9.5878	0.39528	0.0782:0.1428:0.779:0.0	.	84	P02549	SPTA1_HUMAN	T	84	ENSP00000357130:P84T;ENSP00000357129:P84T	ENSP00000357129:P84T	P	-	1	0	SPTA1	156921536	1.000000	0.71417	0.094000	0.20943	0.679000	0.39708	7.097000	0.76967	0.747000	0.32809	0.467000	0.42956	CCA	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000163554		0.393	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	-	0.00	55	0	G	NM_003126		158654912	-1	tier1	-	no_errors	ENST00000368147	ensembl	human	known	74_37	missense	19.18	59	14	SNP	1.000	T
SPTAN1	6709	genome.wustl.edu	37	9	131388793	131388793	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:131388793C>T	ENST00000372731.4	+	48	6498	c.6388C>T	c.(6388-6390)Cgc>Tgc	p.R2130C	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R2135C|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2135C	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2130					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CAAAGCTTTGCGCGAGGCCCA	0.582																																					NSCLC(120;833 1744 2558 35612 37579)												0													75.0	79.0	77.0					9																	131388793		2203	4300	6503	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6388C>T	9.37:g.131388793C>T	ENSP00000361816:p.Arg2130Cys		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.R2135C	ENST00000372731.4	37	c.6403	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641476	0.67244	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719;ENST00000372721	T;T;T	0.50813	0.73;0.73;0.73	5.53	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.62527	0.2435	L	0.51422	1.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77557	0.984;0.988;0.99	T	0.64041	-0.6500	10	0.52906	T	0.07	.	14.7723	0.69688	0.2622:0.7377:0.0:0.0	.	2110;2135;2130	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	C	2135;2130;2135;2110;379	ENSP00000350882:R2135C;ENSP00000361816:R2130C;ENSP00000361824:R2135C	ENSP00000350882:R2135C	R	+	1	0	SPTAN1	130428614	1.000000	0.71417	0.532000	0.27989	0.676000	0.39594	3.707000	0.54838	1.317000	0.45149	0.563000	0.77884	CGC	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.582	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1		0.00	36	0	C	NM_003127		131388793	+1			no_errors	ENST00000358161	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
SUPT5H	6829	genome.wustl.edu	37	19	39955492	39955492	+	Missense_Mutation	SNP	G	G	A	rs570927495		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:39955492G>A	ENST00000599117.1	+	12	1046	c.679G>A	c.(679-681)Gtg>Atg	p.V227M	SUPT5H_ENST00000598725.1_Missense_Mutation_p.V227M|SUPT5H_ENST00000432763.2_Missense_Mutation_p.V227M|SUPT5H_ENST00000402194.2_Missense_Mutation_p.V223M|SUPT5H_ENST00000359191.6_Missense_Mutation_p.V223M			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	227	Interaction with SUPT4H1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CTACATCTACGTGGAGGCCTA	0.587																																																	0													102.0	90.0	94.0					19																	39955492		2203	4300	6503	SO:0001583	missense	0			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.679G>A	19.37:g.39955492G>A	ENSP00000470252:p.Val227Met		O43279|Q59G52|Q99639	Missense_Mutation	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5	p.V227M	ENST00000599117.1	37	c.679	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617286	0.87359	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.62	5.62	0.85841	Transcription antitermination protein, NusG, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.82939	0.5146	M	0.80616	2.505	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.987;0.992	T	0.83334	-0.0011	8	.	.	.	-19.4543	18.4325	0.90632	0.0:0.0:1.0:0.0	.	223;227	O00267-2;O00267	.;SPT5H_HUMAN	M	227;223;205;227	.	.	V	+	1	0	SUPT5H	44647332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.916000	0.63362	2.645000	0.89757	0.655000	0.94253	GTG	SUPT5H	-	pfam_TF_Spt5_NGN-domain,smart_Transcrpt_antiterm_NusG_N_dom,pirsf_TF_Spt5	ENSG00000196235		0.587	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	-	0.00	26	0	G	NM_003169		39955492	+1	tier1	-	no_errors	ENST00000432763	ensembl	human	known	74_37	missense	23.08	40	12	SNP	1.000	A
SPTBN4	57731	genome.wustl.edu	37	19	41062986	41062986	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:41062986C>T	ENST00000352632.3	+	26	5433	c.5347C>T	c.(5347-5349)Cgg>Tgg	p.R1783W	SPTBN4_ENST00000595535.1_Missense_Mutation_p.R1783W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R1783W|SPTBN4_ENST00000392023.1_Missense_Mutation_p.R459W|SPTBN4_ENST00000338932.3_Missense_Mutation_p.R1783W|SPTBN4_ENST00000392025.1_Missense_Mutation_p.R526W			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1783					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGGCGGGAACGGCTGGCAGC	0.602																																																	0													37.0	34.0	35.0					19																	41062986		2199	4294	6493	SO:0001583	missense	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.5347C>T	19.37:g.41062986C>T	ENSP00000263373:p.Arg1783Trp		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.R1783W	ENST00000352632.3	37	c.5347	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299700	0.60195	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000392025;ENST00000392023	T;T;T;T	0.55588	0.51;0.51;0.51;0.51	3.59	3.59	0.41128	.	0.000000	0.56097	D	0.000038	T	0.76407	0.3983	M	0.93808	3.46	0.41665	D	0.989204	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;1.0;1.0	T	0.80928	-0.1163	10	0.54805	T	0.06	.	10.503	0.44817	0.1945:0.8055:0.0:0.0	.	526;459;1783;1783	C9JY79;E9PGQ5;Q9H254;Q71S06	.;.;SPTN4_HUMAN;.	W	1783;1783;1783;526;459	ENSP00000263373:R1783W;ENSP00000340345:R1783W;ENSP00000375879:R526W;ENSP00000375877:R459W	ENSP00000340345:R1783W	R	+	1	2	SPTBN4	45754826	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	4.345000	0.59360	2.004000	0.58718	0.455000	0.32223	CGG	SPTBN4	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000160460		0.602	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2		0.00	70	0	C			41062986	+1			no_errors	ENST00000352632	ensembl	human	known	74_37	missense	8.00	115	10	SNP	1.000	T
SVEP1	79987	genome.wustl.edu	37	9	113168908	113168908	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:113168908G>T	ENST00000401783.2	-	38	9308	c.8972C>A	c.(8971-8973)tCc>tAc	p.S2991Y	SVEP1_ENST00000297826.5_Missense_Mutation_p.S917Y|SVEP1_ENST00000374469.1_Missense_Mutation_p.S2968Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2991	Sushi 26. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAGCCATTGGAGAGGCACCT	0.458																																																	0													54.0	56.0	55.0					9																	113168908		1888	4111	5999	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8972C>A	9.37:g.113168908G>T	ENSP00000384917:p.Ser2991Tyr		Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Growth_fac_rcpt_N_dom,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.S2991Y	ENST00000401783.2	37	c.8972	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819664	0.71028	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.66280	-0.2;-0.2;-0.2	5.57	5.57	0.84162	Complement control module (2);Sushi/SCR/CCP (3);	0.389753	0.28011	N	0.016946	T	0.78136	0.4236	M	0.79475	2.455	0.80722	D	1	D	0.57257	0.979	P	0.58331	0.837	T	0.79955	-0.1585	10	0.62326	D	0.03	.	19.5292	0.95222	0.0:0.0:1.0:0.0	.	2991	Q4LDE5	SVEP1_HUMAN	Y	2991;2968;917	ENSP00000384917:S2991Y;ENSP00000363593:S2968Y;ENSP00000297826:S917Y	ENSP00000297826:S917Y	S	-	2	0	SVEP1	112208729	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	6.459000	0.73513	2.625000	0.88918	0.591000	0.81541	TCC	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.458	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding			0.00	19	0	G			113168908	-1			no_errors	ENST00000401783	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.998	T
SYT3	84258	genome.wustl.edu	37	19	51135871	51135871	+	Missense_Mutation	SNP	G	G	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:51135871G>T	ENST00000338916.4	-	2	979	c.346C>A	c.(346-348)Cac>Aac	p.H116N	SYT3_ENST00000600079.1_Missense_Mutation_p.H116N|SYT3_ENST00000544769.1_Missense_Mutation_p.H116N|SYT3_ENST00000593901.1_Missense_Mutation_p.H116N	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	116					calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GCCGCCAGGTGGTGCCCGCCT	0.721																																																	0													14.0	17.0	16.0					19																	51135871		2195	4290	6485	SO:0001583	missense	0			AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.346C>A	19.37:g.51135871G>T	ENSP00000340914:p.His116Asn		Q8N5Z1|Q8N640	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom	p.H116N	ENST00000338916.4	37	c.346	CCDS12798.1	19	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613255	0.28712	.	.	ENSG00000213023	ENST00000338916;ENST00000544769	T;T	0.58060	0.36;0.36	3.91	3.91	0.45181	.	0.224046	0.22181	U	0.063509	T	0.29158	0.0725	N	0.08118	0	0.36980	D	0.894246	B	0.34241	0.444	B	0.30029	0.11	T	0.26985	-1.0087	10	0.10377	T	0.69	.	15.8557	0.78977	0.0:0.0:1.0:0.0	.	116	Q9BQG1	SYT3_HUMAN	N	116	ENSP00000340914:H116N;ENSP00000438883:H116N	ENSP00000340914:H116N	H	-	1	0	SYT3	55827683	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	4.725000	0.61979	2.444000	0.82710	0.563000	0.77884	CAC	SYT3	-	NULL	ENSG00000213023		0.721	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SYT3	HGNC	protein_coding	OTTHUMT00000464910.1	-	0.00	20	0	G	NM_032298		51135871	-1	tier1	-	no_errors	ENST00000338916	ensembl	human	known	74_37	missense	19.15	38	9	SNP	1.000	T
TAF1B	9014	genome.wustl.edu	37	2	9989570	9989571	+	Frame_Shift_Ins	INS	-	-	A	rs528368939		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:9989570_9989571insA	ENST00000263663.5	+	3	374_375	c.186_187insA	c.(187-189)aaafs	p.K63fs	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	63	B-reader.				gene expression (GO:0010467)|RNA polymerase I transcriptional preinitiation complex assembly at the promoter for the nuclear large rRNA transcript (GO:0001189)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I core factor complex (GO:0070860)	metal ion binding (GO:0046872)|RNA polymerase I CORE element sequence-specific DNA binding (GO:0001164)|RNA polymerase I CORE element sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001187)|sequence-specific DNA binding transcription factor activity (GO:0003700)|TBP-class protein binding (GO:0017025)	p.K63fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCGGGGGCTTAAAAAAAAAAA	0.337																																																	1	Insertion - Frameshift(1)	upper_aerodigestive_tract(1)																																								SO:0001589	frameshift_variant	0			L39061	CCDS33143.1	2p25	2008-06-02	2002-08-29		ENSG00000115750	ENSG00000115750			11533	protein-coding gene	gene with protein product		604904	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kD"""			7801123	Standard	NM_005680		Approved	TAFI63, SL1, RAF1B, RAFI63	uc002qzz.3	Q53T94	OTTHUMG00000151673	ENST00000263663.5:c.197dupA	2.37:g.9989581_9989581dupA	ENSP00000263663:p.Lys63fs		B4DI42|F8WD72|Q15574|Q8WVC3	Frame_Shift_Ins	INS	pfam_TF_Rrn7	p.N65fs	ENST00000263663.5	37	c.186_187	CCDS33143.1	2																																																																																			TAF1B	-	NULL	ENSG00000115750		0.337	TAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1B	HGNC	protein_coding	OTTHUMT00000323426.2		0.00	13	0	-	NM_005680		9989571	+1	tier1		no_errors	ENST00000263663	ensembl	human	known	74_37	frame_shift_ins	25.00	15	5	INS	0.992:0.991	A
TBC1D31	93594	genome.wustl.edu	37	8	124140521	124140521	+	Splice_Site	DEL	T	T	-	rs570441854		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr8:124140521delT	ENST00000287380.1	+	14	1975	c.1885delT	c.(1885-1887)ttt>tt	p.F631fs	TBC1D31_ENST00000378080.2_Splice_Site_p.F526fs|TBC1D31_ENST00000521676.1_Splice_Site_p.F508fs|TBC1D31_ENST00000518805.1_Intron|TBC1D31_ENST00000309336.3_Splice_Site_p.F631fs|TBC1D31_ENST00000522420.1_Splice_Site_p.F526fs|TBC1D31_ENST00000327098.5_Splice_Site_p.F631fs	NM_145647.3	NP_663622.2	Q96DN5	TBC31_HUMAN	TBC1 domain family, member 31	631						centrosome (GO:0005813)	Rab GTPase activator activity (GO:0005097)										TTTCTTACAGTTTTTTTTTCA	0.323																																																	0													76.0	76.0	76.0					8																	124140521		2203	4300	6503	SO:0001630	splice_region_variant	0			AK094612	CCDS6338.1, CCDS47916.1	8q24.13	2013-07-10	2013-07-10	2013-07-10	ENSG00000156787	ENSG00000156787		"""WD repeat domain containing"""	30888	protein-coding gene	gene with protein product			"""WD repeat domain 67"""	WDR67		12477932	Standard	NM_001145088		Approved	MGC21654, Gm85	uc003ypp.2	Q96DN5	OTTHUMG00000165081	ENST00000287380.1:c.1885-1T>-	8.37:g.124140521delT			B7ZL19|Q2M2J9|Q3MIR6|Q8TBP9	Frame_Shift_Del	DEL	pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom	p.H632fs	ENST00000287380.1	37	c.1885	CCDS6338.1	8																																																																																			TBC1D31	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000156787		0.323	TBC1D31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D31	HGNC	protein_coding	OTTHUMT00000381721.1		0.00	27	0	T	NM_145647	Frame_Shift_Del	124140521	+1	tier1		no_errors	ENST00000287380	ensembl	human	known	74_37	frame_shift_del	5.45	52	3	DEL	1.000	-
TBCD	6904	genome.wustl.edu	37	17	80861311	80861311	+	Silent	SNP	G	G	A	rs370932975		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:80861311G>A	ENST00000355528.4	+	19	1891	c.1761G>A	c.(1759-1761)ctG>ctA	p.L587L	TBCD_ENST00000539345.2_Silent_p.L587L|TBCD_ENST00000397466.2_Silent_p.L201L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	587					'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CGAGGGCGCTGCACAACCTGG	0.562																																																	0								G		0,4016		0,0,2008	28.0	30.0	29.0		1761	3.5	0.0	17		29	1,8337		0,1,4168	no	coding-synonymous	TBCD	NM_005993.4		0,1,6176	AA,AG,GG		0.012,0.0,0.0081		587/1193	80861311	1,12353	2008	4169	6177	SO:0001819	synonymous_variant	0			BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.1761G>A	17.37:g.80861311G>A			O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Silent	SNP	pfam_Tubulin_specific_chaperoneD_C,superfamily_ARM-type_fold	p.L587	ENST00000355528.4	37	c.1761	CCDS45818.1	17																																																																																			TBCD	-	superfamily_ARM-type_fold	ENSG00000141556		0.562	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBCD	HGNC	protein_coding	OTTHUMT00000439415.1	-	0.00	39	0	G	NM_005993		80861311	+1	tier1	-	no_errors	ENST00000355528	ensembl	human	known	74_37	silent	7.14	65	5	SNP	0.171	A
TCHH	7062	genome.wustl.edu	37	1	152086555	152086556	+	Start_Codon_Ins	INS	-	-	T	rs141946179	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:152086555_152086556insT	ENST00000368804.1	-	0	0_1					NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin						keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGTGGAGACATTTTTTTTTCT	0.361																																																	0																																										SO:0001582	initiator_codon_variant	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2dupA	1.37:g.152086564_152086564dupT			Q5VUI3	Frame_Shift_Ins	INS	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.M1fs	ENST00000368804.1	37	c.2_1	CCDS41396.1	1																																																																																			TCHH	-	NULL	ENSG00000159450		0.361	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2		0.00	27	0	-	NM_007113		152086556	-1	tier1		no_errors	ENST00000368804	ensembl	human	known	74_37	frame_shift_ins	6.38	44	3	INS	1.000:1.000	T
TCHH	7062	genome.wustl.edu	37	1	152082484	152082484	+	Missense_Mutation	SNP	G	G	T	rs377407296		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:152082484G>T	ENST00000368804.1	-	2	3208	c.3209C>A	c.(3208-3210)aCg>aAg	p.T1070K		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1070	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.T1070K(4)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gcgccttctcgtctcccgttc	0.597																																																	4	Substitution - Missense(4)	endometrium(3)|skin(1)											108.0	112.0	111.0					1																	152082484		2000	4150	6150	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3209C>A	1.37:g.152082484G>T	ENSP00000357794:p.Thr1070Lys		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.T1070K	ENST00000368804.1	37	c.3209	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	T	5.324	0.245208	0.10077	.	.	ENSG00000159450	ENST00000368804	T	0.04317	3.65	1.72	-1.62	0.08372	.	.	.	.	.	T	0.00356	0.0011	N	0.01576	-0.805	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37502	-0.9703	9	0.06099	T	0.92	.	4.3307	0.11062	0.0:0.1458:0.429:0.4252	.	1070	Q07283	TRHY_HUMAN	K	1070	ENSP00000357794:T1070K	ENSP00000357794:T1070K	T	-	2	0	TCHH	150349108	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-3.679000	0.00395	-1.676000	0.01457	-0.539000	0.04255	ACG	TCHH	-	NULL	ENSG00000159450		0.597	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2		0.00	79	0	G	NM_007113		152082484	-1			no_errors	ENST00000368804	ensembl	human	known	74_37	missense	5.52	137	8	SNP	0.035	T
TESPA1	9840	genome.wustl.edu	37	12	55359872	55359872	+	Silent	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr12:55359872G>A	ENST00000449076.1	-	7	543	c.411C>T	c.(409-411)agC>agT	p.S137S	TESPA1_ENST00000524622.1_5'UTR|TESPA1_ENST00000531122.1_5'UTR|TESPA1_ENST00000532804.1_5'UTR|TESPA1_ENST00000524959.1_Intron|TESPA1_ENST00000316577.8_Silent_p.S137S	NM_001136030.2	NP_001129502.1	A2RU30	TESP1_HUMAN	thymocyte expressed, positive selection associated 1	137					COP9 signalosome assembly (GO:0010387)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)		p.S137S(1)									CAGTCATGCTGCTGGAAGCCA	0.493																																																	1	Substitution - coding silent(1)	large_intestine(1)											62.0	61.0	61.0					12																	55359872		1941	4139	6080	SO:0001819	synonymous_variant	0			AB018291	CCDS44913.1, CCDS58240.1	12q13.2	2012-03-21	2012-03-21	2012-03-21	ENSG00000135426	ENSG00000135426			29109	protein-coding gene	gene with protein product		615664	"""KIAA0748"""	KIAA0748		9872452	Standard	NM_001136030		Approved		uc001sgn.4	A2RU30	OTTHUMG00000165407	ENST00000449076.1:c.411C>T	12.37:g.55359872G>A			B4DPM3|B4E048|B7Z9K7|O94849|Q4G0P2|Q9P0C4	Silent	SNP	NULL	p.S137	ENST00000449076.1	37	c.411	CCDS44913.1	12																																																																																			TESPA1	-	NULL	ENSG00000135426		0.493	TESPA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TESPA1	HGNC	protein_coding	OTTHUMT00000383822.1	-	0.00	38	0	G	NM_001098815		55359872	-1	tier1	-	no_errors	ENST00000316577	ensembl	human	known	74_37	silent	7.27	50	4	SNP	1.000	A
TMEM64	169200	genome.wustl.edu	37	8	91715677	91715677	+	5'UTR	SNP	G	G	A	rs565378753		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr8:91715677G>A	ENST00000519519.1	-	0	469				TMEM64_ENST00000523902.1_5'UTR			Q6YI46	TMM64_HUMAN	transmembrane protein 64						cytosolic calcium ion homeostasis (GO:0051480)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of ATPase activity (GO:0043462)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)	2			BRCA - Breast invasive adenocarcinoma(11;0.0598)			gtattagtccgcttgcagttt	0.403													G|||	1	0.000199681	0.0	0.0	5008	,	,		15438	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001623	5_prime_UTR_variant	0			AL834364	CCDS34920.2, CCDS55260.1	8q21.3	2005-08-09			ENSG00000180694	ENSG00000180694			25441	protein-coding gene	gene with protein product							Standard	NM_001008495		Approved	DKFZp762C1112	uc003yen.2	Q6YI46	OTTHUMG00000157185	ENST00000519519.1:c.-44C>T	8.37:g.91715677G>A			B4DUC0|F5GXM4|Q2HIZ7|Q8N3G6	RNA	SNP	-	NULL	ENST00000519519.1	37	NULL		8																																																																																			TMEM64	-	-	ENSG00000180694		0.403	TMEM64-003	KNOWN	basic	protein_coding	TMEM64	HGNC	protein_coding	OTTHUMT00000376592.2	-	0.00	38	0	G	NM_001008495		91715677	-1	tier1	-	no_errors	ENST00000521211	ensembl	human	known	74_37	rna	26.32	41	15	SNP	0.000	A
TONSL	4796	genome.wustl.edu	37	8	145664111	145664113	+	In_Frame_Del	DEL	GTC	GTC	-	rs566416003		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	GTC	GTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr8:145664111_145664113delGTC	ENST00000409379.3	-	12	1515_1517	c.1486_1488delGAC	c.(1486-1488)gacdel	p.D496del	AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	496	Glu-rich.				cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGCCATCGGTGTCGTCCTCTGGA	0.67																																																	0																																										SO:0001651	inframe_deletion	0				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.1486_1488delGAC	8.37:g.145664114_145664116delGTC	ENSP00000386239:p.Asp496del		B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	In_Frame_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.D496in_frame_del	ENST00000409379.3	37	c.1488_1486	CCDS34968.2	8																																																																																			TONSL	-	NULL	ENSG00000160949		0.670	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2		0.00	83	0	GTC	NM_013432		145664113	-1	tier1		no_errors	ENST00000409379	ensembl	human	known	74_37	in_frame_del	11.30	102	13	DEL	0.000:0.412:0.438	-
TP53	7157	genome.wustl.edu	37	17	7577559	7577559	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs28934573		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:7577559G>A	ENST00000269305.4	-	7	911	c.722C>T	c.(721-723)tCc>tTc	p.S241F	TP53_ENST00000413465.2_Missense_Mutation_p.S241F|TP53_ENST00000455263.2_Missense_Mutation_p.S241F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.S241F|TP53_ENST00000420246.2_Missense_Mutation_p.S241F|TP53_ENST00000359597.4_Missense_Mutation_p.S241F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		S -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228}.|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCCCATGCAGGAACTGTTACA	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	160	Substitution - Missense(124)|Deletion - In frame(13)|Deletion - Frameshift(9)|Whole gene deletion(8)|Unknown(5)|Complex - deletion inframe(1)	urinary_tract(19)|large_intestine(18)|breast(17)|endometrium(15)|ovary(15)|lung(12)|skin(9)|biliary_tract(8)|central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(6)|stomach(6)|oesophagus(5)|bone(5)|liver(3)|pancreas(3)|eye(2)|thyroid(1)|kidney(1)	GRCh37	CM920673	TP53	M	rs28934573						139.0	108.0	118.0					17																	7577559		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.722C>T	17.37:g.7577559G>A	ENSP00000269305:p.Ser241Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.S241F	ENST00000269305.4	37	c.722	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	17.50	3.404027	0.62288	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99857	-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22;-7.22	4.62	3.64	0.41730	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.120078	0.56097	D	0.000022	D	0.99871	0.9939	M	0.92784	3.345	0.53688	A	0.999973	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.96525	0.9388	9	0.87932	D	0	-35.4617	12.8645	0.57932	0.0:0.1651:0.8349:0.0	rs28934573	241;241;148;241;241;241	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	241;241;241;241;241;241;230;148;109;148	ENSP00000410739:S241F;ENSP00000352610:S241F;ENSP00000269305:S241F;ENSP00000398846:S241F;ENSP00000391127:S241F;ENSP00000391478:S241F;ENSP00000425104:S109F;ENSP00000423862:S148F	ENSP00000269305:S241F	S	-	2	0	TP53	7518284	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.346000	0.44027	1.295000	0.44724	0.462000	0.41574	TCC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	36	0	G	NM_000546		7577559	-1	tier1	rs28934573	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	26.19	31	11	SNP	1.000	A
TPP2	7174	genome.wustl.edu	37	13	103326806	103326806	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr13:103326806A>G	ENST00000376065.4	+	27	3542	c.3506A>G	c.(3505-3507)gAa>gGa	p.E1169G	TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376052.3_Missense_Mutation_p.E1182G	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1169					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					ACATTTTGGGAAACTACTAAA	0.463																																																	0													88.0	86.0	87.0					13																	103326806		2203	4300	6503	SO:0001583	missense	0			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.3506A>G	13.37:g.103326806A>G	ENSP00000365233:p.Glu1169Gly		Q5VZU8	Missense_Mutation	SNP	pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel	p.E1169G	ENST00000376065.4	37	c.3506	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	A	28.4	4.918221	0.92249	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.77301	0.4110	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.79356	-0.1837	9	0.72032	D	0.01	.	16.1778	0.81874	1.0:0.0:0.0:0.0	.	1169	P29144	TPP2_HUMAN	G	1169;1182	.	ENSP00000365220:E1182G	E	+	2	0	TPP2	102124807	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.295000	0.89937	2.279000	0.76181	0.533000	0.62120	GAA	TPP2	-	NULL	ENSG00000134900		0.463	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2	-	0.00	59	0	A			103326806	+1	tier1	-	no_errors	ENST00000376065	ensembl	human	known	74_37	missense	5.41	69	4	SNP	1.000	G
TRIM16L	147166	genome.wustl.edu	37	17	18630877	18630877	+	Missense_Mutation	SNP	T	T	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:18630877T>A	ENST00000449552.2	+	4	1491	c.7T>A	c.(7-9)Ttt>Att	p.F3I	TRIM16L_ENST00000395672.2_Missense_Mutation_p.F3I|TRIM16L_ENST00000395902.3_Missense_Mutation_p.F57I|TRIM16L_ENST00000395671.4_Missense_Mutation_p.F3I|TRIM16L_ENST00000414850.2_Missense_Mutation_p.F3I|TRIM16L_ENST00000572555.1_Missense_Mutation_p.F3I|TRIM16L_ENST00000571708.1_Missense_Mutation_p.F3I			Q309B1	TR16L_HUMAN	tripartite motif containing 16-like	3						cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	9						TGAAATGCAGTTTGGGGAACT	0.552																																																	0													103.0	87.0	92.0					17																	18630877		2203	4300	6503	SO:0001583	missense	0			DQ232882	CCDS32588.1	17p11.2	2011-02-10	2011-01-25		ENSG00000108448	ENSG00000108448			32670	protein-coding gene	gene with protein product			"""tripartite motif-containing 16-like"""				Standard	XM_005256479		Approved	TRIM70	uc002gui.1	Q309B1	OTTHUMG00000059050	ENST00000449552.2:c.7T>A	17.37:g.18630877T>A	ENSP00000461386:p.Phe3Ile		A0PK10|B2RUW6|B4DQK2|B4DWQ8	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY	p.F57I	ENST00000449552.2	37	c.169	CCDS32588.1	17	.	.	.	.	.	.	.	.	.	.	t	18.60	3.658914	0.67586	.	.	ENSG00000108448	ENST00000395902;ENST00000395672;ENST00000414850;ENST00000424146;ENST00000395671	T;D;D	0.84442	-1.07;-1.85;-1.85	3.25	3.25	0.37280	.	0.169073	0.42682	U	0.000679	D	0.90170	0.6928	M	0.70275	2.135	0.40635	D	0.981894	D;D;D;D	0.89917	0.981;1.0;1.0;1.0	D;D;D;D	0.91635	0.962;0.998;0.999;0.998	D	0.90678	0.4603	10	0.87932	D	0	-7.0156	9.8481	0.41039	0.0:0.0:0.0:1.0	.	3;57;219;3	B4DWQ8;B4DE22;B3KMJ2;Q309B1	.;.;.;TR16L_HUMAN	I	57;3;3;3;3	ENSP00000379239:F57I;ENSP00000379031:F3I;ENSP00000379030:F3I	ENSP00000379030:F3I	F	+	1	0	TRIM16L	18571602	1.000000	0.71417	0.997000	0.53966	0.611000	0.37282	6.492000	0.73654	1.478000	0.48253	0.163000	0.16589	TTT	TRIM16L	-	NULL	ENSG00000108448		0.552	TRIM16L-012	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM16L	HGNC	protein_coding	OTTHUMT00000130670.3	-	0.00	92	0	T	NM_001037330		18630877	+1	tier1	-	no_errors	ENST00000395902	ensembl	human	known	74_37	missense	7.34	100	8	SNP	1.000	A
TRIM64B	642446	genome.wustl.edu	37	11	89603859	89603859	+	Missense_Mutation	SNP	A	A	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr11:89603859A>C	ENST00000329862.6	-	6	1279	c.1280T>G	c.(1279-1281)cTt>cGt	p.L427R		NM_001136486.1|NM_001164397.1	NP_001129958.1|NP_001157869.1	A6NI03	TR64B_HUMAN	tripartite motif containing 64B	427	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)	2						ACCATAGATAAGAGAACCTTT	0.403																																																	0													8.0	15.0	13.0					11																	89603859		525	1269	1794	SO:0001583	missense	0				CCDS53693.1	11q14.3	2014-04-02	2011-01-25		ENSG00000189253	ENSG00000189253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	37147	protein-coding gene	gene with protein product			"""tripartite motif-containing 64B"""				Standard	NM_001164397		Approved		uc021qoo.1	A6NI03	OTTHUMG00000167638	ENST00000329862.6:c.1280T>G	11.37:g.89603859A>C	ENSP00000332969:p.Leu427Arg			Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L427R	ENST00000329862.6	37	c.1280	CCDS53693.1	11	.	.	.	.	.	.	.	.	.	.	.	12.01	1.811023	0.32053	.	.	ENSG00000189253	ENST00000329862	T	0.66099	-0.19	2.2	0.894	0.19242	.	.	.	.	.	T	0.68760	0.3036	M	0.85373	2.75	0.09310	N	1	.	.	.	.	.	.	T	0.60454	-0.7260	6	.	.	.	.	4.9278	0.13901	0.6807:0.3193:0.0:0.0	.	.	.	.	R	427	ENSP00000332969:L427R	.	L	-	2	0	TRIM64B	89243507	0.001000	0.12720	0.009000	0.14445	0.144000	0.21451	-0.453000	0.06778	0.077000	0.16863	0.321000	0.21382	CTT	TRIM64B	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY	ENSG00000189253		0.403	TRIM64B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM64B	HGNC	protein_coding	OTTHUMT00000395440.1	-	0.00	139	0	A			89603859	-1	tier1	-	no_errors	ENST00000329862	ensembl	human	known	74_37	missense	15.90	238	45	SNP	0.224	C
TRIML2	205860	genome.wustl.edu	37	4	189026085	189026085	+	Splice_Site	SNP	T	T	G	rs113404223	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr4:189026085T>G	ENST00000512729.1	-	2	415	c.41A>C	c.(40-42)aAg>aCg	p.K14T	TRIML2_ENST00000326754.3_Splice_Site_p.K14T|TRIML2_ENST00000502707.1_5'Flank|TRIML2_ENST00000536972.1_Splice_Site_p.K64T	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	14					protein ubiquitination (GO:0016567)|response to retinoic acid (GO:0032526)		ligase activity (GO:0016874)	p.K14T(1)		central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTGGAATAACTTCTATAGAGA	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)											138.0	133.0	135.0					4																	189026085		2203	4299	6502	SO:0001630	splice_region_variant	0			AK098667	CCDS3850.1	4q35.2	2014-02-12	2007-12-14		ENSG00000179046	ENSG00000179046			26378	protein-coding gene	gene with protein product	"""SPRY domain containing 6"""						Standard	NM_173553		Approved	FLJ25801, SPRYD6	uc003izl.2	Q8N7C3	OTTHUMG00000160225	ENST00000512729.1:c.40-1A>C	4.37:g.189026085T>G			B7Z6J6	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	p.K14T	ENST00000512729.1	37	c.41	CCDS3850.1	4	.	.	.	.	.	.	.	.	.	.	T	8.363	0.833459	0.16820	.	.	ENSG00000179046	ENST00000512729;ENST00000326754;ENST00000536972	T;T;T	0.59502	0.49;0.26;0.43	4.63	-0.939	0.10408	.	0.651748	0.13563	N	0.378629	T	0.31327	0.0793	L	0.27053	0.805	0.21967	N	0.999449	B;B;B	0.31485	0.325;0.286;0.121	B;B;B	0.24155	0.025;0.051;0.051	T	0.09975	-1.0650	10	0.26408	T	0.33	.	1.1652	0.01813	0.3135:0.0899:0.1624:0.4342	.	64;14;14	B7Z6J6;B7ZLC3;Q8N7C3	.;.;TRIMM_HUMAN	T	14;14;64	ENSP00000422581:K14T;ENSP00000317498:K14T;ENSP00000441236:K64T	ENSP00000317498:K14T	K	-	2	0	TRIML2	189263079	0.136000	0.22515	0.741000	0.31004	0.292000	0.27327	-0.055000	0.11807	-0.104000	0.12154	0.528000	0.53228	AAG	TRIML2	-	NULL	ENSG00000179046		0.378	TRIML2-001	KNOWN	basic|CCDS	protein_coding	TRIML2	HGNC	protein_coding	OTTHUMT00000359733.1	-	0.00	35	0	T	NM_173553	Missense_Mutation	189026085	-1	tier1	-	no_errors	ENST00000512729	ensembl	human	known	74_37	missense	16.92	54	11	SNP	0.866	G
TSN	7247	genome.wustl.edu	37	2	122522720	122522720	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:122522720C>A	ENST00000389682.3	+	6	711	c.464C>A	c.(463-465)tCt>tAt	p.S155Y	TSN_ENST00000536142.1_Silent_p.V128V|TSN_ENST00000498545.1_3'UTR|TSN_ENST00000409193.1_Missense_Mutation_p.S150Y	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	155					DNA recombination (GO:0006310)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|mRNA binding (GO:0003729)|sequence-specific DNA binding (GO:0043565)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				TCGAGGCTGTCTGTCAACAGC	0.507																																																	0													234.0	238.0	237.0					2																	122522720		2203	4300	6503	SO:0001583	missense	0			X78627	CCDS33284.1, CCDS58723.1	2q21.1	2008-05-23			ENSG00000211460	ENSG00000211460			12379	protein-coding gene	gene with protein product	"""recombination hotspot associated factor"""	600575				7947454, 9244443	Standard	NM_004622		Approved	TRSLN, BCLF-1, REHF-1	uc002tnl.3	Q15631	OTTHUMG00000153334	ENST00000389682.3:c.464C>A	2.37:g.122522720C>A	ENSP00000374332:p.Ser155Tyr		B7Z3X8|Q5U0K7	Missense_Mutation	SNP	pfam_Translin,superfamily_Translin	p.S155Y	ENST00000389682.3	37	c.464	CCDS33284.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.310655|4.310655	0.81358|0.81358	.|.	.|.	ENSG00000211460|ENSG00000211460	ENST00000455432|ENST00000389682;ENST00000413418;ENST00000409193	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|Translin, C-terminal (1);	.|0.103239	.|0.64402	.|D	.|0.000004	T|T	0.67692|0.67692	0.2920|0.2920	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|D;D	.|0.65815	.|0.995;0.992	.|D;D	.|0.66497	.|0.927;0.944	T|T	0.69347|0.69347	-0.5169|-0.5169	5|9	.|0.87932	.|D	.|0	.|.	19.1191|19.1191	0.93355|0.93355	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|108;155	.|B3KRM8;Q15631	.|.;TSN_HUMAN	M|Y	161|155;121;150	.|.	.|ENSP00000374332:S155Y	L|S	+|+	1|2	2|0	TSN|TSN	122239190|122239190	1.000000|1.000000	0.71417|0.71417	0.969000|0.969000	0.41365|0.41365	0.692000|0.692000	0.40212|0.40212	7.463000|7.463000	0.80869|0.80869	2.837000|2.837000	0.97791|0.97791	0.655000|0.655000	0.94253|0.94253	CTG|TCT	TSN	-	pfam_Translin,superfamily_Translin	ENSG00000211460		0.507	TSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSN	HGNC	protein_coding	OTTHUMT00000330767.1		0.00	32	0	C	NM_004622		122522720	+1			no_errors	ENST00000389682	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	A
UBXN4	23190	genome.wustl.edu	37	2	136513152	136513152	+	Silent	SNP	T	T	C			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:136513152T>C	ENST00000272638.9	+	5	710	c.399T>C	c.(397-399)acT>acC	p.T133T	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	133					response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						CAGTGTCTACTCCATCTGCGT	0.373																																																	0													93.0	88.0	90.0					2																	136513152		1855	4110	5965	SO:0001819	synonymous_variant	0			D87684	CCDS42761.1	2q21.3-q22.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000144224	ENSG00000144224		"""UBX domain containing"""	14860	protein-coding gene	gene with protein product	"""erasin"""	611216	"""UBX domain-containing 2"", ""UBX domain containing 2"""	UBXDC1, UBXD2		16968747	Standard	NM_014607		Approved	KIAA0242	uc002tur.3	Q92575	OTTHUMG00000153577	ENST00000272638.9:c.399T>C	2.37:g.136513152T>C			A8K9W4|Q4ZG56|Q8IYM5	Silent	SNP	pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX	p.T133	ENST00000272638.9	37	c.399	CCDS42761.1	2																																																																																			UBXN4	-	NULL	ENSG00000144224		0.373	UBXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBXN4	HGNC	protein_coding	OTTHUMT00000331696.1		0.00	47	0	T	NM_014607		136513152	+1			no_errors	ENST00000272638	ensembl	human	known	74_37	silent	6.35	58	4	SNP	0.964	C
USH2A	7399	genome.wustl.edu	37	1	216017824	216017824	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:216017824G>A	ENST00000307340.3	-	46	9456	c.9070C>T	c.(9070-9072)Ctt>Ttt	p.L3024F	USH2A_ENST00000366943.2_Missense_Mutation_p.L3024F	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3024	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCTGGAGGAAGCATGCCCTGA	0.403										HNSCC(13;0.011)																																							0													65.0	67.0	66.0					1																	216017824		2203	4300	6503	SO:0001583	missense	0			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9070C>T	1.37:g.216017824G>A	ENSP00000305941:p.Leu3024Phe		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.L3024F	ENST00000307340.3	37	c.9070	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	1.977	-0.435034	0.04669	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.55930	0.49;0.49	6.04	3.19	0.36642	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.386459	0.18692	N	0.133824	T	0.25269	0.0614	N	0.05510	-0.035	0.25057	N	0.991097	B	0.02656	0.0	B	0.04013	0.001	T	0.18745	-1.0327	10	0.09843	T	0.71	.	6.1074	0.20081	0.436:0.0:0.564:0.0	.	3024	O75445	USH2A_HUMAN	F	3024	ENSP00000305941:L3024F;ENSP00000355910:L3024F	ENSP00000305941:L3024F	L	-	1	0	USH2A	214084447	1.000000	0.71417	0.983000	0.44433	0.985000	0.73830	3.574000	0.53863	0.907000	0.36646	-0.142000	0.14014	CTT	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.403	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0.00	29	0	G	NM_007123		216017824	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.972	A
VAV1	7409	genome.wustl.edu	37	19	6832176	6832178	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	GAA	GAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:6832176_6832178delGAA	ENST00000602142.1	+	15	1555_1557	c.1473_1475delGAA	c.(1471-1476)ttgaag>ttg	p.K494del	VAV1_ENST00000304076.2_In_Frame_Del_p.K494del|VAV1_ENST00000599806.1_In_Frame_Del_p.K439del|VAV1_ENST00000539284.1_In_Frame_Del_p.K397del|VAV1_ENST00000596764.1_In_Frame_Del_p.K462del	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	494	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|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)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CAAGAGAATTGAAGAAGAAGTGG	0.547																																																	0																																										SO:0001651	inframe_deletion	0				CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1473_1475delGAA	19.37:g.6832182_6832184delGAA	ENSP00000472929:p.Lys494del		B4DVK9|M0QXX6|Q15860	In_Frame_Del	DEL	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin	p.K494in_frame_del	ENST00000602142.1	37	c.1473_1475	CCDS12174.1	19																																																																																			VAV1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000141968		0.547	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VAV1	HGNC	protein_coding	OTTHUMT00000458475.1		0.00	40	0	GAA			6832178	+1	tier1		no_errors	ENST00000602142	ensembl	human	known	74_37	in_frame_del	16.95	49	10	DEL	1.000:1.000:1.000	-
VCAN	1462	genome.wustl.edu	37	5	82817036	82817036	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr5:82817036C>A	ENST00000265077.3	+	7	3476	c.2911C>A	c.(2911-2913)Cat>Aat	p.H971N	VCAN_ENST00000342785.4_Missense_Mutation_p.H971N|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.H923N|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	971	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)	p.H971N(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	AGACTCTTCCCATACCATTCC	0.428																																																	1	Substitution - Missense(1)	prostate(1)											110.0	108.0	109.0					5																	82817036		2203	4300	6503	SO:0001583	missense	0			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2911C>A	5.37:g.82817036C>A	ENSP00000265077:p.His971Asn		P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link	p.H971N	ENST00000265077.3	37	c.2911	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	C	12.08	1.831876	0.32421	.	.	ENSG00000038427	ENST00000265077;ENST00000342785;ENST00000512590	T;T;T	0.25579	1.79;1.79;1.79	5.78	4.03	0.46877	.	0.319207	0.27354	N	0.019751	T	0.30541	0.0768	L	0.60455	1.87	0.26223	N	0.979132	P;P	0.51933	0.949;0.791	P;B	0.49085	0.6;0.272	T	0.09729	-1.0661	10	0.33141	T	0.24	.	8.8198	0.35018	0.0:0.8285:0.0:0.1715	.	971;971	P13611-3;P13611	.;CSPG2_HUMAN	N	971;971;923	ENSP00000265077:H971N;ENSP00000342768:H971N;ENSP00000425959:H923N	ENSP00000265077:H971N	H	+	1	0	VCAN	82852792	0.002000	0.14202	0.884000	0.34674	0.605000	0.37080	0.301000	0.19174	0.808000	0.34231	-0.229000	0.12294	CAT	VCAN	-	NULL	ENSG00000038427		0.428	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	-	0.00	20	0	C	NM_004385		82817036	+1	tier1	-	no_errors	ENST00000265077	ensembl	human	known	74_37	missense	18.18	27	6	SNP	0.888	A
VRTN	55237	genome.wustl.edu	37	14	74825015	74825015	+	Missense_Mutation	SNP	G	G	A	rs376151213		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:74825015G>A	ENST00000256362.4	+	2	1770	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	510					transposition, DNA-mediated (GO:0006313)		sequence-specific DNA binding (GO:0043565)|transposase activity (GO:0004803)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						TGGCAGAGGCGTCTGCGCAGG	0.677																																																	0								G	HIS/ARG	1,4401		0,1,2200	54.0	59.0	57.0		1529	2.4	0.7	14		57	0,8596		0,0,4298	no	missense	VRTN	NM_018228.2	29	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign	510/703	74825015	1,12997	2201	4298	6499	SO:0001583	missense	0			AK001673	CCDS9830.1	14q24.2	2012-12-07	2012-12-07	2010-10-20	ENSG00000133980	ENSG00000133980			20223	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 115"", ""vertebrae development homolog (pig)"""	C14orf115		21232157	Standard	NM_018228		Approved	FLJ10811, vertnin	uc001xpw.4	Q9H8Y1	OTTHUMG00000171208	ENST00000256362.4:c.1529G>A	14.37:g.74825015G>A	ENSP00000256362:p.Arg510His		Q9NVC7	Missense_Mutation	SNP	pfam_Transposase_8	p.R510H	ENST00000256362.4	37	c.1529	CCDS9830.1	14	.	.	.	.	.	.	.	.	.	.	G	16.97	3.267474	0.59540	2.27E-4	0.0	ENSG00000133980	ENST00000256362	T	0.49139	0.79	4.29	2.38	0.29361	.	0.229979	0.34268	U	0.004106	T	0.30603	0.0770	L	0.27053	0.805	0.09310	N	1	B	0.22541	0.071	B	0.08055	0.003	T	0.22871	-1.0204	10	0.72032	D	0.01	-4.8035	7.3672	0.26781	0.3773:0.0:0.6227:0.0	.	510	Q9H8Y1	VRTN_HUMAN	H	510	ENSP00000256362:R510H	ENSP00000256362:R510H	R	+	2	0	VRTN	73894768	0.969000	0.33509	0.654000	0.29608	0.949000	0.60115	1.860000	0.39428	0.403000	0.25479	0.491000	0.48974	CGT	VRTN	-	NULL	ENSG00000133980		0.677	VRTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VRTN	HGNC	protein_coding	OTTHUMT00000412339.1	-	0.00	79	0	G	NM_018228		74825015	+1	tier1	-	no_errors	ENST00000256362	ensembl	human	known	74_37	missense	20.59	108	28	SNP	0.004	A
XPNPEP1	7511	genome.wustl.edu	37	10	111651336	111651337	+	Intron	INS	-	-	T	rs112429910		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr10:111651336_111651337insT	ENST00000502935.1	-	5	535				XPNPEP1_ENST00000430337.1_Intron|XPNPEP1_ENST00000322238.8_Intron|XPNPEP1_ENST00000369683.1_Intron|XPNPEP1_ENST00000369680.4_Intron					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble											endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		taggcatgccattttttttttt	0.441																																																	0																																										SO:0001627	intron_variant	0				CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.415+142->A	10.37:g.111651347_111651347dupT				RNA	INS	-	NULL	ENST00000502935.1	37	NULL	CCDS7560.2	10																																																																																			XPNPEP1	-	-	ENSG00000108039		0.441	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	XPNPEP1	HGNC	protein_coding	OTTHUMT00000050264.2		0.00	8	0	-			111651337	-1	tier1		no_errors	ENST00000475123	ensembl	human	known	74_37	rna	16.67	20	4	INS	0.003:0.005	T
XPNPEP2	7512	genome.wustl.edu	37	X	128888456	128888456	+	Silent	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chrX:128888456C>T	ENST00000371106.3	+	12	1308	c.1116C>T	c.(1114-1116)gaC>gaT	p.D372D		NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	372						anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGGTGCGGGACGCTGTGGCTG	0.592																																																	0													45.0	31.0	36.0					X																	128888456		2197	4294	6491	SO:0001819	synonymous_variant	0			U90724	CCDS14613.1	Xq25	2008-02-05			ENSG00000122121	ENSG00000122121	3.4.11.9		12823	protein-coding gene	gene with protein product		300145				9375790, 9628831	Standard	NM_003399		Approved		uc004eut.1	O43895	OTTHUMG00000022373	ENST00000371106.3:c.1116C>T	X.37:g.128888456C>T			A0AV16|O75994	Silent	SNP	pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain	p.D372	ENST00000371106.3	37	c.1116	CCDS14613.1	X																																																																																			XPNPEP2	-	superfamily_Pept_M24_structural-domain	ENSG00000122121		0.592	XPNPEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPNPEP2	HGNC	protein_coding	OTTHUMT00000058210.1	-	0.00	32	0	C	NM_003399		128888456	+1	tier1	-	no_errors	ENST00000371106	ensembl	human	known	74_37	silent	41.82	32	23	SNP	0.359	T
YLPM1	56252	genome.wustl.edu	37	14	75247267	75247267	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr14:75247267C>T	ENST00000552421.1	+	3	1394	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*	YLPM1_ENST00000325680.7_Nonsense_Mutation_p.Q424*|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.Q424*			P49750	YLPM1_HUMAN	YLP motif containing 1	424	Gln-rich.				regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCAGATTATACAGCCCCCACC	0.438																																																	0													152.0	145.0	147.0					14																	75247267		1972	4161	6133	SO:0001587	stop_gained	0			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1270C>T	14.37:g.75247267C>T	ENSP00000447921:p.Gln424*		P49752|Q96I64|Q9P1V7	Nonsense_Mutation	SNP	superfamily_P-loop_NTPase	p.Q424*	ENST00000552421.1	37	c.1270		14	.	.	.	.	.	.	.	.	.	.	C	38	6.740360	0.97805	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-7.7784	19.2748	0.94027	0.0:1.0:0.0:0.0	.	.	.	.	X	424;424;424;137	.	ENSP00000238571:Q424X	Q	+	1	0	YLPM1	74317020	1.000000	0.71417	0.990000	0.47175	0.889000	0.51656	6.818000	0.75257	2.558000	0.86282	0.655000	0.94253	CAG	YLPM1	-	NULL	ENSG00000119596		0.438	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	HGNC	protein_coding	OTTHUMT00000404450.1	-	0.00	69	0	C	NM_019589		75247267	+1	tier1	-	no_errors	ENST00000325680	ensembl	human	known	74_37	nonsense	6.56	57	4	SNP	1.000	T
YY1AP1	55249	genome.wustl.edu	37	1	155649228	155649230	+	Missense_Mutation	TNP	CTT	CTT	GAC			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C|T|T	C|T|T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr1:155649228_155649230CTT>GAC	ENST00000295566.4	-	4	316_318	c.293_295AAG>GTC	c.(292-297)cAAGct>cGTCct	p.98_99QA>RP	YY1AP1_ENST00000359205.5_Missense_Mutation_p.21_22QA>RP|YY1AP1_ENST00000405763.3_Missense_Mutation_p.170_171QA>RP|YY1AP1_ENST00000368340.5_Missense_Mutation_p.170_171QA>RP|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000347088.5_Missense_Mutation_p.32_33QA>RP|YY1AP1_ENST00000361831.5_Missense_Mutation_p.21_22QA>RP|YY1AP1_ENST00000407221.1_Missense_Mutation_p.21_22QA>RP|YY1AP1_ENST00000311573.5_Missense_Mutation_p.21_22QA>RP|YY1AP1_ENST00000438245.2_Missense_Mutation_p.32_33QA>RP|YY1AP1_ENST00000535662.1_5'Flank|YY1AP1_ENST00000368339.5_Missense_Mutation_p.170_171QA>RP|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000404643.1_Missense_Mutation_p.32_33QA>RP|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000368330.2_Missense_Mutation_p.32_33QA>RP|YY1AP1_ENST00000355499.4_Missense_Mutation_p.32_33QA>RP	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	98					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TTAAAGTTAGCTTGAGGCTCAGC	0.463																																																	0																																										SO:0001583	missense	0			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.293_295AAG>GTC	1.37:g.155649228CTT>GAC	ENSP00000295566:p.Q98_A99delinsRP		B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	NULL	p.A171P|p.Q170H|p.Q170R	ENST00000295566.4	37	c.511|c.510|c.509	CCDS1115.1	1																																																																																			YY1AP1	-	NULL	ENSG00000163374		0.463	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	YY1AP1	HGNC	protein_coding	OTTHUMT00000086027.1		0.00	61|61|59	0	C|T|T	NM_139118		155649228|155649229|155649230	-1			no_errors	ENST00000368339	ensembl	human	known	74_37	missense	13.64|13.51|13.51	95|96|96	15	SNP	1.000|0.998|0.993	G|A|C
ZFX	7543	genome.wustl.edu	37	X	24228809	24228809	+	Silent	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chrX:24228809C>T	ENST00000379177.1	+	11	2161	c.1734C>T	c.(1732-1734)tgC>tgT	p.C578C	ZFX_ENST00000338565.3_Silent_p.C528C|ZFX_ENST00000539115.1_Silent_p.C349C|ZFX_ENST00000540034.1_Silent_p.C617C|ZFX_ENST00000304543.5_Silent_p.C578C|ZFX_ENST00000379188.3_Silent_p.C578C	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	578					death (GO:0016265)|fertilization (GO:0009566)|homeostasis of number of cells (GO:0048872)|multicellular organism growth (GO:0035264)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|parental behavior (GO:0060746)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription coactivator activity (GO:0003713)			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CGTACCAATGCCAGTACTGCG	0.433																																					Esophageal Squamous(20;306 562 7346 32868 37983)												0													100.0	89.0	93.0					X																	24228809		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14211.1, CCDS55390.1	Xp22.1-p21.3	2013-01-08			ENSG00000005889	ENSG00000005889		"""Zinc fingers, C2H2-type"""	12869	protein-coding gene	gene with protein product		314980					Standard	NM_003410		Approved	ZNF926	uc022bua.1	P17010	OTTHUMG00000021264	ENST00000379177.1:c.1734C>T	X.37:g.24228809C>T			B9EG97|O43668|Q8WYJ8	Silent	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C617	ENST00000379177.1	37	c.1851	CCDS14211.1	X																																																																																			ZFX	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000005889		0.433	ZFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFX	HGNC	protein_coding	OTTHUMT00000056084.1	-	0.00	19	0	C	NM_003410		24228809	+1	tier1	-	no_errors	ENST00000540034	ensembl	human	known	74_37	silent	38.89	22	14	SNP	1.000	T
ZNF221	7638	genome.wustl.edu	37	19	44470960	44470960	+	Nonsense_Mutation	SNP	C	C	T	rs148293806		TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:44470960C>T	ENST00000251269.5	+	6	1634	c.1306C>T	c.(1306-1308)Cga>Tga	p.R436*	ZNF221_ENST00000587682.1_Nonsense_Mutation_p.R436*|ZNF221_ENST00000592350.1_Nonsense_Mutation_p.R436*	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				TACAAATTCACGACGATCTTC	0.418																																																	0								C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	68.0	69.0	68.0		1306	-3.2	0.0	19	dbSNP_134	68	0,8600		0,0,4300	yes	stop-gained	ZNF221	NM_013359.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		436/618	44470960	1,13005	2203	4300	6503	SO:0001587	stop_gained	0			AF187987	CCDS12633.1	19q13.31	2013-01-08				ENSG00000159905		"""Zinc fingers, C2H2-type"", ""-"""	13014	protein-coding gene	gene with protein product							Standard	NM_013359		Approved		uc002oxx.2	Q9UK13		ENST00000251269.5:c.1306C>T	19.37:g.44470960C>T	ENSP00000251269:p.Arg436*		B2RAI6|Q2M2H2|Q9P1U8	Nonsense_Mutation	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.R436*	ENST00000251269.5	37	c.1306	CCDS12633.1	19	.	.	.	.	.	.	.	.	.	.	c	37	6.527040	0.97637	2.27E-4	0.0	ENSG00000159905	ENST00000251269	.	.	.	1.58	-3.15	0.05233	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	1.2749	0.02028	0.1653:0.2271:0.4109:0.1967	.	.	.	.	X	436	.	ENSP00000251269:R436X	R	+	1	2	ZNF221	49162800	0.000000	0.05858	0.000000	0.03702	0.912000	0.54170	-9.120000	0.00013	-0.655000	0.05387	0.313000	0.20887	CGA	ZNF221	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000159905		0.418	ZNF221-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF221	HGNC	protein_coding	OTTHUMT00000460068.1	-	0.00	48	0	C			44470960	+1	tier1	rs148293806	no_errors	ENST00000251269	ensembl	human	known	74_37	nonsense	23.64	42	13	SNP	0.000	T
ZNF222	7673	genome.wustl.edu	37	19	44536593	44536593	+	Missense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:44536593C>T	ENST00000187879.8	+	4	928	c.766C>T	c.(766-768)Cca>Tca	p.P256S	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.P296S	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P256S(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TGGGGAGAAGCCATTCAAATG	0.393																																																	1	Substitution - Missense(1)	ovary(1)											131.0	136.0	134.0					19																	44536593		2203	4300	6503	SO:0001583	missense	0			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.766C>T	19.37:g.44536593C>T	ENSP00000187879:p.Pro256Ser		G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	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.P296S	ENST00000187879.8	37	c.886	CCDS33045.1	19	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439738	0.63067	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.16743	2.32;2.32	2.79	0.389	0.16269	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.37046	0.0989	M	0.79011	2.435	0.29816	N	0.831248	D;D	0.89917	0.997;1.0	D;D	0.73380	0.934;0.98	T	0.23154	-1.0196	9	0.66056	D	0.02	.	7.6732	0.28470	0.1829:0.6394:0.1776:0.0	.	296;256	G5E9B9;Q9UK12	.;ZN222_HUMAN	S	296;256;202	ENSP00000375822:P296S;ENSP00000187879:P256S	ENSP00000187879:P256S	P	+	1	0	ZNF222	49228433	0.924000	0.31332	0.006000	0.13384	0.461000	0.32589	4.270000	0.58896	0.029000	0.15352	0.205000	0.17691	CCA	ZNF222	-	pfscan_Znf_C2H2	ENSG00000159885		0.393	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	HGNC	protein_coding	OTTHUMT00000460465.2		0.00	46	0	C			44536593	+1			no_errors	ENST00000391960	ensembl	human	known	74_37	missense	6.52	43	3	SNP	0.999	T
ZNF286A	57335	genome.wustl.edu	37	17	15604684	15604685	+	Intron	INS	-	-	G	rs375159888	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:15604684_15604685insG	ENST00000464847.2	+	2	679				ZNF286A_ENST00000581529.1_Intron|ZNF286A_ENST00000580259.1_Intron|ZNF286A_ENST00000583566.1_Intron|ZNF286A_ENST00000413242.2_Intron|ZNF286A_ENST00000472486.1_Intron|ZNF286A_ENST00000395894.2_Intron|ZNF286A_ENST00000585171.1_Intron|ZNF286A_ENST00000421016.1_Intron|ZNF286A_ENST00000585194.1_Intron|ZNF286A_ENST00000593105.1_Intron|ZNF286A_ENST00000395893.2_Intron			Q9HBT8	Z286A_HUMAN	zinc finger protein 286A						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(3)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.0781)		TCTAAGAGACTAGTCAGGAGAC	0.386													-|-|G|insertion	514	0.102636	0.1876	0.0965	5008	,	,		20890	0.0089		0.0845	False		,,,				2504	0.1074																0																																										SO:0001627	intron_variant	0			AF217226	CCDS11172.1, CCDS73997.1	17p11.2	2013-02-14	2007-01-05	2007-01-05		ENSG00000187607		"""Zinc fingers, C2H2-type"", ""-"""	13501	protein-coding gene	gene with protein product			"""zinc finger protein 286"""	ZNF286		11347906	Standard	NM_020652		Approved	KIAA1874	uc010cot.3	Q9HBT8	OTTHUMG00000166448	ENST00000464847.2:c.126+130->G	17.37:g.15604684_15604685insG			B4DKF9|Q96JF3	RNA	INS	-	NULL	ENST00000464847.2	37	NULL	CCDS11172.1	17																																																																																			ZNF286A	-	-	ENSG00000187607		0.386	ZNF286A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF286A	Uniprot_gn	protein_coding	OTTHUMT00000130696.4		0.00	15	0	-	NM_020652		15604685	+1	tier1		no_errors	ENST00000580136	ensembl	human	known	74_37	rna	44.44	5	4	INS	0.002:0.001	G
ZNF335	63925	genome.wustl.edu	37	20	44600814	44600814	+	5'Flank	SNP	A	A	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr20:44600814A>G	ENST00000322927.2	-	0	0				ZNF335_ENST00000426788.1_Start_Codon_SNP_p.M1T	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335						brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CGAGGTCGCCATCCTCTTTCC	0.617																																																	0																																										SO:0001631	upstream_gene_variant	0			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637		20.37:g.44600814A>G	Exception_encountered		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M1T	ENST00000322927.2	37	c.2	CCDS13389.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.03|15.03	2.711130|2.711130	0.48517|0.48517	.|.	.|.	ENSG00000198026|ENSG00000198026	ENST00000426788|ENST00000243961	T|.	0.08102|.	3.13|.	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|.	.|.	.|.	.|.	T|T	0.34919|0.34919	0.0914|0.0914	.|.	.|.	.|.	0.21652|0.21652	N|N	0.999601|0.999601	P|.	0.37500|.	0.597|.	B|.	0.37047|.	0.24|.	T|T	0.21211|0.21211	-1.0252|-1.0252	7|4	.|.	.|.	.|.	.|.	7.3539|7.3539	0.26709|0.26709	0.9046:0.0:0.0954:0.0|0.9046:0.0:0.0954:0.0	.|.	1|.	Q9H4Z2-2|.	.|.	T|R	1|7	ENSP00000397098:M1T|.	.|.	M|W	-|-	2|1	0|0	ZNF335|ZNF335	44034221|44034221	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.866000|0.866000	0.49608|0.49608	3.873000|3.873000	0.56093|0.56093	2.099000|2.099000	0.63709|0.63709	0.379000|0.379000	0.24179|0.24179	ATG|TGG	ZNF335	-	NULL	ENSG00000198026		0.617	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	-	0.00	53	0	A	NM_022095		44600814	-1	tier1	-	no_errors	ENST00000426788	ensembl	human	known	74_37	missense	20.90	53	14	SNP	1.000	G
ZNF347	84671	genome.wustl.edu	37	19	53644505	53644505	+	Missense_Mutation	SNP	A	A	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:53644505A>G	ENST00000334197.7	-	5	1644	c.1576T>C	c.(1576-1578)Tca>Cca	p.S526P	ZNF347_ENST00000601469.2_Missense_Mutation_p.S527P|ZNF347_ENST00000452676.2_Missense_Mutation_p.S527P|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	526					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GCAAGGTGTGAATTTTGAGTG	0.408																																					Melanoma(64;205 1597 17324 45721)												0													140.0	139.0	140.0					19																	53644505		2203	4300	6503	SO:0001583	missense	0			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.1576T>C	19.37:g.53644505A>G	ENSP00000334146:p.Ser526Pro		B3KU77|B9EG59|G5E9N4|Q8TCN1	Missense_Mutation	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.S527P	ENST00000334197.7	37	c.1579	CCDS33097.1	19	.	.	.	.	.	.	.	.	.	.	A	11.42	1.633083	0.29068	.	.	ENSG00000197937	ENST00000334197;ENST00000452676	T;T	0.07908	3.15;3.15	3.01	-6.02	0.02192	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20455	0.0492	M	0.83603	2.65	0.09310	N	1	D;D	0.76494	0.999;0.989	D;P	0.70227	0.968;0.796	T	0.03524	-1.1028	9	0.56958	D	0.05	.	2.4337	0.04477	0.1927:0.3155:0.0769:0.415	.	527;526	G5E9N4;Q96SE7	.;ZN347_HUMAN	P	526;527	ENSP00000334146:S526P;ENSP00000405218:S527P	ENSP00000334146:S526P	S	-	1	0	ZNF347	58336317	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.003000	0.12901	-2.885000	0.00317	-1.137000	0.01932	TCA	ZNF347	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197937		0.408	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	-	0.00	87	0	A	NM_032584		53644505	-1	tier1	-	no_errors	ENST00000452676	ensembl	human	known	74_37	missense	8.82	124	12	SNP	0.000	G
ZNF483	158399	genome.wustl.edu	37	9	114303978	114303978	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr9:114303978G>A	ENST00000309235.5	+	6	921	c.763G>A	c.(763-765)Gat>Aat	p.D255N	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	255					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GTGCCTCAGGGATGATGATCA	0.373																																																	0													61.0	64.0	63.0					9																	114303978		2203	4299	6502	SO:0001583	missense	0			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.763G>A	9.37:g.114303978G>A	ENSP00000311679:p.Asp255Asn		Q5VZN2|Q8NAE1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.D255N	ENST00000309235.5	37	c.763	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	G	14.39	2.520818	0.44866	.	.	ENSG00000173258	ENST00000309235	T	0.04406	3.63	4.28	0.0438	0.14223	.	0.882245	0.09561	N	0.785582	T	0.03827	0.0108	L	0.38175	1.15	0.09310	N	1	B	0.30406	0.278	B	0.28305	0.088	T	0.46775	-0.9167	10	0.23302	T	0.38	-0.0353	4.7584	0.13095	0.1807:0.0:0.5301:0.2891	.	255	Q8TF39	ZN483_HUMAN	N	255	ENSP00000311679:D255N	ENSP00000311679:D255N	D	+	1	0	ZNF483	113343799	0.000000	0.05858	0.000000	0.03702	0.732000	0.41865	-0.170000	0.09897	0.010000	0.14839	0.655000	0.94253	GAT	ZNF483	-	NULL	ENSG00000173258		0.373	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	-	0.00	20	0	G	XM_088567		114303978	+1	tier1	-	no_errors	ENST00000309235	ensembl	human	known	74_37	missense	16.67	40	8	SNP	0.000	A
ZNF571	51276	genome.wustl.edu	37	19	38056190	38056193	+	Frame_Shift_Del	DEL	GTAA	GTAA	-	rs531640879	byFrequency	TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	GTAA	GTAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:38056190_38056193delGTAA	ENST00000328550.2	-	4	1236_1239	c.1137_1140delTTAC	c.(1135-1140)acttacfs	p.TY379fs	ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000593133.1_Frame_Shift_Del_p.TY379fs|ZNF571_ENST00000451802.2_Frame_Shift_Del_p.TY379fs|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571_ENST00000358744.3_Frame_Shift_Del_p.TY379fs|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000589802.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTCAGGTGGTAAGTAAGTTGTG	0.377														5	0.000998403	0.0	0.0	5008	,	,		22055	0.0		0.0	False		,,,				2504	0.0051																0																																										SO:0001589	frameshift_variant	0			AF161544	CCDS12505.1	19q13.12	2013-09-20			ENSG00000180479	ENSG00000180479		"""Zinc fingers, C2H2-type"", ""-"""	25000	protein-coding gene	gene with protein product						11042152	Standard	XM_005258977		Approved	HSPC059	uc002ogt.3	Q7Z3V5	OTTHUMG00000182016	ENST00000328550.2:c.1137_1140delTTAC	19.37:g.38056194_38056197delGTAA	ENSP00000333660:p.Thr379fs		Q2HIY0|Q3ZCU3|Q9NZX7	Frame_Shift_Del	DEL	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.Y380fs	ENST00000328550.2	37	c.1140_1137	CCDS12505.1	19																																																																																			ZNF571	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180479		0.377	ZNF571-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF571	HGNC	protein_coding	OTTHUMT00000458669.1		0.00	63	0	GTAA	NM_016536		38056193	-1	tier1		no_errors	ENST00000328550	ensembl	human	known	74_37	frame_shift_del	10.34	52	6	DEL	0.000:0.000:0.000:0.000	-
ZNF730	100129543	genome.wustl.edu	37	19	23328707	23328707	+	Silent	SNP	A	A	G			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:23328707A>G	ENST00000597761.2	+	4	1060	c.861A>G	c.(859-861)gaA>gaG	p.E287E		NM_001277403.1	NP_001264332.1	Q6ZMV8	ZN730_HUMAN	zinc finger protein 730	287					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|pancreas(1)|stomach(2)|urinary_tract(1)	16						ATAAATGTGAAGAATGTGGCA	0.353																																																	0																																										SO:0001819	synonymous_variant	0			AK131472	CCDS59371.1	19p12	2013-01-08			ENSG00000183850	ENSG00000183850		"""Zinc fingers, C2H2-type"", ""-"""	32470	protein-coding gene	gene with protein product							Standard	NM_001277403		Approved		uc031rkc.1	Q6ZMV8		ENST00000597761.2:c.861A>G	19.37:g.23328707A>G				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.E287	ENST00000597761.2	37	c.861	CCDS59371.1	19																																																																																			ZNF730	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000183850		0.353	ZNF730-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF730	HGNC	protein_coding	OTTHUMT00000465737.2	-	0.00	69	0	A	XM_001719792		23328707	+1	tier1	-	no_errors	ENST00000597761	ensembl	human	known	74_37	silent	20.00	48	12	SNP	0.031	G
ZNF582	147948	genome.wustl.edu	37	19	56895581	56895581	+	Missense_Mutation	SNP	C	C	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:56895581C>A	ENST00000301310.4	-	5	1363	c.1205G>T	c.(1204-1206)aGg>aTg	p.R402M	ZNF582_ENST00000586929.1_Missense_Mutation_p.R402M	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		TTTGAAGGCCCTACCACATAC	0.423																																					Ovarian(183;1887 2032 4349 30507 51343)												0													112.0	110.0	111.0					19																	56895581		2203	4300	6503	SO:0001583	missense	0			AK055489	CCDS33121.1	19q13.43	2013-07-15			ENSG00000018869	ENSG00000018869		"""Zinc fingers, C2H2-type"", ""-"""	26421	protein-coding gene	gene with protein product		615600				12477932	Standard	NM_144690		Approved	FLJ30927	uc002qmz.1	Q96NG8	OTTHUMG00000181939	ENST00000301310.4:c.1205G>T	19.37:g.56895581C>A	ENSP00000301310:p.Arg402Met		B4DQZ9|B7Z9R3|Q6PJT6	Missense_Mutation	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.R402M	ENST00000301310.4	37	c.1205	CCDS33121.1	19	.	.	.	.	.	.	.	.	.	.	C	12.93	2.086345	0.36855	.	.	ENSG00000018869	ENST00000301310	T	0.08008	3.14	4.46	-7.04	0.01578	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39759	N	0.001280	T	0.12646	0.0307	N	0.25380	0.74	0.09310	N	1	D;D	0.71674	0.987;0.998	D;D	0.68765	0.946;0.96	T	0.05852	-1.0860	10	0.87932	D	0	.	16.0056	0.80359	0.0:0.1696:0.0:0.8304	.	402;433	Q96NG8;B4DQZ9	ZN582_HUMAN;.	M	402	ENSP00000301310:R402M	ENSP00000301310:R402M	R	-	2	0	ZNF582	61587393	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.746000	0.04829	-1.226000	0.02574	-0.136000	0.14681	AGG	ZNF582	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000018869		0.423	ZNF582-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF582	HGNC	protein_coding	OTTHUMT00000458387.2	-	0.00	43	0	C	NM_144690		56895581	-1	tier1	-	no_errors	ENST00000301310	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.001	A
ZNF768	79724	genome.wustl.edu	37	16	30536262	30536262	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr16:30536262G>A	ENST00000380412.5	-	2	1374	c.1199C>T	c.(1198-1200)cCc>cTc	p.P400L	ZNF768_ENST00000562803.1_Missense_Mutation_p.P369L	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	400					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	DNA-directed RNA polymerase II, core complex (GO:0005665)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ACAGCTGAAGGGCCTCTGACC	0.657																																																	0													38.0	37.0	37.0					16																	30536262		2197	4300	6497	SO:0001583	missense	0			BC013760	CCDS10681.2	16p11.2	2013-01-08			ENSG00000169957	ENSG00000169957		"""Zinc fingers, C2H2-type"""	26273	protein-coding gene	gene with protein product						12477932	Standard	NM_024671		Approved	FLJ23436	uc002dyk.4	Q9H5H4	OTTHUMG00000132392	ENST00000380412.5:c.1199C>T	16.37:g.30536262G>A	ENSP00000369777:p.Pro400Leu		Q569L7|Q96CX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P400L	ENST00000380412.5	37	c.1199	CCDS10681.2	16	.	.	.	.	.	.	.	.	.	.	G	21.7	4.191678	0.78902	.	.	ENSG00000169957	ENST00000380412;ENST00000538507	T	0.27557	1.66	4.72	4.72	0.59763	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42964	D	0.000635	T	0.52613	0.1745	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.55250	-0.8170	10	0.72032	D	0.01	-10.7095	16.5926	0.84770	0.0:0.0:1.0:0.0	.	400	Q9H5H4	ZN768_HUMAN	L	400;313	ENSP00000369777:P400L	ENSP00000369777:P400L	P	-	2	0	ZNF768	30443763	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	9.598000	0.98277	2.470000	0.83445	0.436000	0.28706	CCC	ZNF768	-	pfscan_Znf_C2H2	ENSG00000169957		0.657	ZNF768-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF768	HGNC	protein_coding	OTTHUMT00000255522.2	-	0.00	67	0	G	NM_024671		30536262	-1	tier1	-	no_errors	ENST00000380412	ensembl	human	known	74_37	missense	27.17	67	25	SNP	1.000	A
ZNF776	284309	genome.wustl.edu	37	19	58258457	58258457	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:58258457C>T	ENST00000317178.5	+	1	294	c.31C>T	c.(31-33)Cag>Tag	p.Q11*	AC003006.7_ENST00000594684.1_Intron|ZNF776_ENST00000431353.1_Nonsense_Mutation_p.Q11*	NM_173632.3	NP_775903.3	Q68DI1	ZN776_HUMAN	zinc finger protein 776	11					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		GCCCCCGGCTCAGGTAATTGT	0.637																																																	0													11.0	14.0	13.0					19																	58258457		1567	3575	5142	SO:0001587	stop_gained	0			AK095607	CCDS12962.2	19q13.43	2013-01-08			ENSG00000152443	ENSG00000152443		"""Zinc fingers, C2H2-type"", ""-"""	26765	protein-coding gene	gene with protein product							Standard	NM_173632		Approved	FLJ38288		Q68DI1	OTTHUMG00000156943	ENST00000317178.5:c.31C>T	19.37:g.58258457C>T	ENSP00000321812:p.Gln11*		Q6ZS36|Q8N968	Nonsense_Mutation	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.Q11*	ENST00000317178.5	37	c.31	CCDS12962.2	19	.	.	.	.	.	.	.	.	.	.	C	35	5.571109	0.96553	.	.	ENSG00000152443	ENST00000317178;ENST00000431353	.	.	.	1.25	1.25	0.21368	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	5.8734	0.18816	0.0:1.0:0.0:0.0	.	.	.	.	X	11	.	ENSP00000321812:Q11X	Q	+	1	0	ZNF776	62950269	0.010000	0.17322	0.033000	0.17914	0.405000	0.30901	-0.923000	0.04000	0.997000	0.38969	0.313000	0.20887	CAG	ZNF776	-	superfamily_Krueppel-associated_box	ENSG00000152443		0.637	ZNF776-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF776	HGNC	protein_coding	OTTHUMT00000346722.2	-	0.00	130	0	C	NM_173632		58258457	+1	tier1	-	no_errors	ENST00000317178	ensembl	human	known	74_37	nonsense	22.16	144	41	SNP	0.038	T
ZNF804A	91752	genome.wustl.edu	37	2	185802007	185802007	+	Missense_Mutation	SNP	A	A	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr2:185802007A>T	ENST00000302277.6	+	4	2478	c.1884A>T	c.(1882-1884)gaA>gaT	p.E628D		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	628							metal ion binding (GO:0046872)	p.E628E(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GTTACACTGAAAATGCTGGGA	0.343																																																	1	Substitution - coding silent(1)	lung(1)											95.0	105.0	102.0					2																	185802007		2203	4298	6501	SO:0001583	missense	0			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.1884A>T	2.37:g.185802007A>T	ENSP00000303252:p.Glu628Asp		A7E253|Q6ZN26	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.E628D	ENST00000302277.6	37	c.1884	CCDS2291.1	2	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.172732	0.00315	.	.	ENSG00000170396	ENST00000302277	T	0.04917	3.53	5.51	-5.49	0.02584	.	0.402035	0.21352	N	0.075954	T	0.00875	0.0029	N	0.00368	-1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34551	-0.9824	10	0.02654	T	1	-10.3009	2.118	0.03719	0.1088:0.1928:0.3346:0.3639	.	628	Q7Z570	Z804A_HUMAN	D	628	ENSP00000303252:E628D	ENSP00000303252:E628D	E	+	3	2	ZNF804A	185510252	0.000000	0.05858	0.003000	0.11579	0.030000	0.12068	-0.841000	0.04359	-0.830000	0.04262	-1.133000	0.01973	GAA	ZNF804A	-	NULL	ENSG00000170396		0.343	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804A	HGNC	protein_coding	OTTHUMT00000255871.1	-	0.00	39	0	A	NM_194250		185802007	+1	tier1	-	no_errors	ENST00000302277	ensembl	human	known	74_37	missense	13.79	50	8	SNP	0.001	T
ZNF90	7643	genome.wustl.edu	37	19	20235983	20235983	+	3'UTR	SNP	C	C	T			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr19:20235983C>T	ENST00000474284.1	+	0	407				CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000590606.1_RNA			Q03938	ZNF90_HUMAN	zinc finger protein 90						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						ATGACTGAGCCGCGCATGCTA	0.582																																																	0																																										SO:0001624	3_prime_UTR_variant	0			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000474284.1:c.*404C>T	19.37:g.20235983C>T			B9EH87	RNA	SNP	-	NULL	ENST00000474284.1	37	NULL		19																																																																																			ZNF90	-	-	ENSG00000213988		0.582	ZNF90-003	KNOWN	basic	processed_transcript	ZNF90	HGNC	protein_coding	OTTHUMT00000350103.2	-	0.00	36	0	C	NM_007138		20235983	+1	tier1	-	no_errors	ENST00000474284	ensembl	human	known	74_37	rna	16.05	68	13	SNP	0.974	T
ZZEF1	23140	genome.wustl.edu	37	17	3912906	3912906	+	Missense_Mutation	SNP	G	G	A			TCGA-JY-A938-01A-11D-A37C-09	TCGA-JY-A938-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	1a2ea76a-877a-4f5b-b02d-907af03bd8d9	e79ed459-4958-47d3-848a-cee4634e978d	g.chr17:3912906G>A	ENST00000381638.2	-	53	8849	c.8725C>T	c.(8725-8727)Cgt>Tgt	p.R2909C		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2909							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACCTGGGCACGGTTCTCGGTG	0.637																																																	0													83.0	70.0	74.0					17																	3912906		2203	4300	6503	SO:0001583	missense	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8725C>T	17.37:g.3912906G>A	ENSP00000371051:p.Arg2909Cys		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ	p.R2909C	ENST00000381638.2	37	c.8725	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276005	0.80580	.	.	ENSG00000074755	ENST00000381638	T	0.22945	1.93	5.64	4.62	0.57501	.	0.114699	0.64402	D	0.000016	T	0.30510	0.0767	L	0.27053	0.805	0.49915	D	0.99983	D	0.76494	0.999	P	0.54140	0.743	T	0.03545	-1.1026	10	0.72032	D	0.01	-11.7643	15.6467	0.77061	0.0:0.0:0.8114:0.1886	.	2909	O43149	ZZEF1_HUMAN	C	2909	ENSP00000371051:R2909C	ENSP00000371051:R2909C	R	-	1	0	ZZEF1	3859655	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	3.405000	0.52630	2.823000	0.97156	0.643000	0.83706	CGT	ZZEF1	-	NULL	ENSG00000074755		0.637	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	-	0.00	29	0	G	NM_015113		3912906	-1	tier1	-	no_errors	ENST00000381638	ensembl	human	known	74_37	missense	30.95	29	13	SNP	0.992	A
