#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	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_Mutation_Status	i_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AQP6	363	genome.wustl.edu	37	12	50367325	50367325	+	Silent	SNP	G	G	A	rs150838227		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:50367325G>A	ENST00000315520.5	+	1	706	c.369G>A	c.(367-369)ccG>ccA	p.P123P	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	123					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						GGGTCATGCCGGGAGACATCC	0.652																																																	0								ENSG00000086159						19.0	15.0	17.0					12																	50367325		2202	4296	6498	AQP6	SO:0001819	synonymous_variant	0			-	HGNC	AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.369G>A	12.37:g.50367325G>A		Somatic	0	167	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	42	97	30.22		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_6,tigrfam_MIP	p.P123	ENST00000315520.5	37	c.369	CCDS31798.1	12																																																																																			-	pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_6,tigrfam_MIP		0.652	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP6	protein_coding	OTTHUMT00000257528.2	G	NM_001652, NM_053286	rs150838227		50367325	+1	no_errors	ENST00000315520	ensembl	human	known	74_37	silent	SNP	0.001	A
SLC39A5	283375	genome.wustl.edu	37	12	56625110	56625110	+	Missense_Mutation	SNP	G	G	A	rs555836955		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:56625110G>A	ENST00000266980.4	+	2	345	c.52G>A	c.(52-54)Gtc>Atc	p.V18I	SLC39A5_ENST00000454355.2_Missense_Mutation_p.V18I	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	18					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTGTGGGTCGTCTTGGGCTG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		16486	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000139540						88.0	85.0	86.0					12																	56625110		2203	4297	6500	SLC39A5	SO:0001583	missense	0			-	HGNC		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.52G>A	12.37:g.56625110G>A	ENSP00000266980:p.Val18Ile	Somatic	0	63	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	64	9.86	B2R808|Q8N6Y3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ZIP	p.V18I	ENST00000266980.4	37	c.52	CCDS8912.2	12	.	.	.	.	.	.	.	.	.	.	G	0.310	-0.968639	0.02232	.	.	ENSG00000139540	ENST00000424625;ENST00000419753;ENST00000454355;ENST00000417965;ENST00000266980;ENST00000437277	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	4.67	-0.622	0.11560	.	1.574790	0.03799	N	0.264111	T	0.10252	0.0251	N	0.02011	-0.69	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.24977	-1.0145	10	0.21540	T	0.41	-9.5829	6.9229	0.24399	0.3787:0.1158:0.5055:0.0	.	18	Q6ZMH5	S39A5_HUMAN	I	18	ENSP00000404155:V18I;ENSP00000402891:V18I;ENSP00000405360:V18I;ENSP00000414868:V18I;ENSP00000266980:V18I;ENSP00000407399:V18I	ENSP00000266980:V18I	V	+	1	0	SLC39A5	54911377	0.952000	0.32445	0.076000	0.20297	0.115000	0.19883	0.304000	0.19228	-0.679000	0.05217	-1.134000	0.01955	GTC	-	NULL		0.612	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	protein_coding	OTTHUMT00000346834.1	G	NM_173596	-		56625110	+1	no_errors	ENST00000266980	ensembl	human	known	74_37	missense	SNP	0.011	A
ATRX	546	genome.wustl.edu	37	X	76875920	76875920	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chrX:76875920G>A	ENST00000373344.5	-	20	5429	c.5215C>T	c.(5215-5217)Cga>Tga	p.R1739*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1701*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1739	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R1739*(1)|p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						CTCCTTGATCGTATAGAATTC	0.323			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																																	Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	2	Substitution - Nonsense(1)|Unknown(1)	central_nervous_system(1)|bone(1)						ENSG00000085224						78.0	65.0	70.0					X																	76875920		2202	4293	6495	ATRX	SO:0001587	stop_gained	0			-	HGNC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5215C>T	X.37:g.76875920G>A	ENSP00000362441:p.Arg1739*	Somatic	0	50	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	46	41.03	D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R1739*	ENST00000373344.5	37	c.5215	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.267367	0.95399	.	.	ENSG00000085224	ENST00000373344;ENST00000395603	.	.	.	4.57	3.61	0.41365	.	0.171135	0.37623	N	0.002005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.805	11.8455	0.52381	0.0:0.0:0.4784:0.5215	.	.	.	.	X	1739;1701	.	ENSP00000362441:R1739X	R	-	1	2	ATRX	76762576	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	2.134000	0.42102	0.560000	0.29169	0.600000	0.82982	CGA	-	pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.323	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	protein_coding	OTTHUMT00000058860.2	G	NM_000489	-		76875920	-1	no_errors	ENST00000373344	ensembl	human	known	74_37	nonsense	SNP	0.998	A
OR4C5	79346	genome.wustl.edu	37	11	48387285	48387286	+	Frame_Shift_Ins	INS	-	-	GTCTTTAGTAG	rs369896820|rs10839482		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr11:48387285_48387286insGTCTTTAGTAG	ENST00000319813.3	-	1	731_732	c.732_733insCTACTAAAGAC	c.(730-735)tgctcafs	p.S245fs				Q8NGB2	OR4C5_HUMAN	olfactory receptor, family 4, subfamily C, member 5	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										TTCCGCTGTGAGCAGAGGATTA	0.465																																																	0								ENSG00000176540																																			OR4C5	SO:0001589	frameshift_variant	0				HGNC			11p11.2	2013-03-27	2004-03-04	2004-03-05	ENSG00000176540	ENSG00000176540		"""GPCR / Class A : Olfactory receptors"""	14702	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 5 pseudogene"""	OR4C5P			Standard	NG_002247		Approved	OR4C5Q		Q8NGB2	OTTHUMG00000169462	ENST00000319813.3:c.732_733insCTACTAAAGAC	11.37:g.48387285_48387286insGTCTTTAGTAG	ENSP00000321338:p.Ser245fs	Somatic	NA	NA	NA		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q6IFB2	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S244fs	ENST00000319813.3	37	c.733_732		11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.465	OR4C5-001	KNOWN	basic|appris_principal	protein_coding	OR4C5	protein_coding	OTTHUMT00000404174.1	-	NG_002247			48387286	-1	no_errors	ENST00000319813	ensembl	human	known	74_37	frame_shift_ins	INS	0.078:0.007	GTCTTTAGTAG
TMEM52B	120939	genome.wustl.edu	37	12	10339077	10339077	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:10339077C>G	ENST00000381923.2	+	5	600	c.196C>G	c.(196-198)Cgc>Ggc	p.R66G	TMEM52B_ENST00000298530.3_Missense_Mutation_p.R46G|TMEM52B_ENST00000536952.1_Missense_Mutation_p.R66G			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	66						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CCTGTGCTTCCGCTGCTGCTG	0.607																																																	0								ENSG00000165685						97.0	83.0	87.0					12																	10339077		2203	4300	6503	TMEM52B	SO:0001583	missense	0			-	HGNC	AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 59"""	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.196C>G	12.37:g.10339077C>G	ENSP00000371348:p.Arg66Gly	Somatic	0	44	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	20.00	Q96NA7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R66G	ENST00000381923.2	37	c.196		12	.	.	.	.	.	.	.	.	.	.	C	23.4	4.408433	0.83340	.	.	ENSG00000165685	ENST00000381923;ENST00000298530;ENST00000543484;ENST00000536952	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000001	T	0.65739	0.2720	M	0.73962	2.25	0.48632	D	0.999689	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.67604	-0.5628	10	0.72032	D	0.01	-27.8434	16.8413	0.85970	0.0:1.0:0.0:0.0	.	66;46	Q4KMG9;Q4KMG9-2	CL059_HUMAN;.	G	66;46;66;66	ENSP00000371348:R66G;ENSP00000298530:R46G;ENSP00000445582:R66G;ENSP00000446102:R66G	ENSP00000298530:R46G	R	+	1	0	C12orf59	10230344	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	3.230000	0.51286	2.835000	0.97688	0.650000	0.86243	CGC	-	NULL		0.607	TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	TMEM52B	protein_coding	OTTHUMT00000399645.1	C	NM_153022	-		10339077	+1	no_errors	ENST00000381923	ensembl	human	known	74_37	missense	SNP	1.000	G
LINC00905	148231	genome.wustl.edu	37	19	16145008	16145008	+	RNA	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:16145008G>A	ENST00000588117.2	+	0	175					NR_024335.1|NR_024336.1				long intergenic non-protein coding RNA 905																		cctggtcatcgggggcctggt	0.597																																																	0								ENSG00000167459																																			LINC00905			0			-	HGNC	BC031284, BC069223, DB461577		19p13.12	2013-05-21			ENSG00000167459	ENSG00000167459		"""Long non-coding RNAs"""	26334	non-coding RNA	RNA, long non-coding							Standard	NR_110321		Approved	FLJ25328			OTTHUMG00000182270		19.37:g.16145008G>A		Somatic	0	73	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	60	9.09		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000588117.2	37	NULL		19																																																																																			-	-		0.597	LINC00905-001	KNOWN	basic	lincRNA	LINC00905	processed_transcript	OTTHUMT00000460313.2	G	NR_024335	-		16145008	+1	no_errors	ENST00000588838	ensembl	human	known	74_37	rna	SNP	0.954	A
SOHLH1	402381	genome.wustl.edu	37	9	138586907	138586907	+	Silent	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr9:138586907C>T	ENST00000298466.5	-	6	924	c.864G>A	c.(862-864)gcG>gcA	p.A288A	SOHLH1_ENST00000425225.1_Silent_p.A288A	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	288					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A288A(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CGGCCTCCTGCGCCAGCATGG	0.697																																																	2	Substitution - coding silent(2)	lung(2)						ENSG00000165643						10.0	10.0	10.0					9																	138586907		2135	4214	6349	SOHLH1	SO:0001819	synonymous_variant	0			-	HGNC	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.864G>A	9.37:g.138586907C>T		Somatic	0	17	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	17	18.18	C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.A288	ENST00000298466.5	37	c.864	CCDS35174.1	9																																																																																			-	NULL		0.697	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SOHLH1	protein_coding	OTTHUMT00000055018.2	C	NM_001012415	-		138586907	-1	no_errors	ENST00000425225	ensembl	human	known	74_37	silent	SNP	0.000	T
SLC6A17	388662	genome.wustl.edu	37	1	110714771	110714771	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:110714771C>T	ENST00000331565.4	+	3	861	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	RP5-1028L10.1_ENST00000443008.1_RNA	NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	126					alanine transport (GO:0032328)|glycine transport (GO:0015816)|leucine transport (GO:0015820)|neutral amino acid transport (GO:0015804)|proline transport (GO:0015824)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GAGGATCCGCCGCGGCAGCAT	0.622																																																	0								ENSG00000197106						60.0	44.0	49.0					1																	110714771		2203	4300	6503	SLC6A17	SO:0001583	missense	0			-	HGNC		CCDS30799.1	1p13.2	2013-07-19	2013-07-19		ENSG00000197106	ENSG00000197106		"""Solute carriers"""	31399	protein-coding gene	gene with protein product		610299	"""solute carrier family 6 (neurotransmitter transporter), member 17"", ""solute carrier family 6, member 17"""				Standard	NM_001010898		Approved		uc009wfq.3	Q9H1V8	OTTHUMG00000011761	ENST00000331565.4:c.376C>T	1.37:g.110714771C>T	ENSP00000330199:p.Arg126Cys	Somatic	0	93	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	78	24.27	A6NEA8|A8K1R7|B9EIR5|Q5T5Q9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan	p.R126C	ENST00000331565.4	37	c.376	CCDS30799.1	1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.233857	0.79688	.	.	ENSG00000197106	ENST00000331565;ENST00000450985	T	0.75367	-0.93	5.19	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.80808	0.4694	M	0.69358	2.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82910	-0.0223	10	0.87932	D	0	.	12.8853	0.58040	0.2926:0.7074:0.0:0.0	.	126	Q9H1V8	S6A17_HUMAN	C	126	ENSP00000330199:R126C	ENSP00000330199:R126C	R	+	1	0	SLC6A17	110516294	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.105000	0.50314	2.404000	0.81709	0.585000	0.79938	CGC	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.622	SLC6A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A17	protein_coding	OTTHUMT00000032550.2	C	XM_371280	-		110714771	+1	no_errors	ENST00000331565	ensembl	human	known	74_37	missense	SNP	1.000	T
ERVMER61-1	339476	genome.wustl.edu	37	1	187611080	187611080	+	lincRNA	SNP	T	T	G			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:187611080T>G	ENST00000429725.1	+	0	481									endogenous retrovirus group MER61, member 1																		ctgtgtatattctctattaag	0.368																																																	0								ENSG00000230426																																			ERVMER61-1			0			-	HGNC	BC040856		1q31.1	2013-10-11	2011-05-05	2011-05-05	ENSG00000230426	ENSG00000230426			27919	other	endogenous retrovirus			"""chromosome 1 open reading frame 99"""	C1orf99		21542922	Standard			Approved				OTTHUMG00000035624		1.37:g.187611080T>G		Somatic	0	10	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000429725.1	37	NULL		1																																																																																			-	-		0.368	ERVMER61-1-001	KNOWN	basic	lincRNA	ERVMER61-1	lincRNA	OTTHUMT00000086446.2	T	NM_001012274	-		187611080	+1	no_errors	ENST00000429725	ensembl	human	known	74_37	rna	SNP	0.044	G
PCSK2	5126	genome.wustl.edu	37	20	17434461	17434461	+	Silent	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr20:17434461C>T	ENST00000262545.2	+	9	1275	c.960C>T	c.(958-960)gaC>gaT	p.D320D	PCSK2_ENST00000377899.1_Silent_p.D301D|PCSK2_ENST00000536609.1_Silent_p.D285D	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	320	Peptidase S8.				cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.D320D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCAACTGCGACGGCTACGCCT	0.647																																																	1	Substitution - coding silent(1)	pancreas(1)						ENSG00000125851						124.0	92.0	103.0					20																	17434461		2203	4300	6503	PCSK2	SO:0001819	synonymous_variant	0			-	HGNC	AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.960C>T	20.37:g.17434461C>T		Somatic	0	89	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	74	8.64	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.D320	ENST00000262545.2	37	c.960	CCDS13125.1	20																																																																																			-	pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom		0.647	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK2	protein_coding	OTTHUMT00000078120.2	C	NM_002594	-		17434461	+1	no_errors	ENST00000262545	ensembl	human	known	74_37	silent	SNP	0.238	T
WDR87	83889	genome.wustl.edu	37	19	38380902	38380902	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:38380902G>A	ENST00000303868.5	-	6	3516	c.3292C>T	c.(3292-3294)Cgg>Tgg	p.R1098W	WDR87_ENST00000447313.2_Missense_Mutation_p.R1137W	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	1098										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						TTGAGACCCCGCAACCATTTT	0.473																																																	0								ENSG00000171804						5.0	4.0	4.0					19																	38380902		646	1440	2086	WDR87	SO:0001583	missense	0			-	HGNC	AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.3292C>T	19.37:g.38380902G>A	ENSP00000368025:p.Arg1098Trp	Somatic	0	59	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	57	24.00	Q9BWV9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R1137W	ENST00000303868.5	37	c.3409	CCDS46063.1	19	.	.	.	.	.	.	.	.	.	.	G	10.65	1.411177	0.25465	.	.	ENSG00000171804	ENST00000447313;ENST00000303868	T;T	0.11930	2.73;2.74	3.79	-1.75	0.08031	.	0.704225	0.11746	N	0.533478	T	0.10465	0.0256	L	0.60455	1.87	0.09310	N	1	B;B	0.28258	0.205;0.205	B;B	0.17979	0.02;0.02	T	0.32107	-0.9919	10	0.87932	D	0	-10.6289	1.9326	0.03330	0.1074:0.1715:0.3707:0.3504	.	1098;1137	Q6ZQQ6;E7ESW6	WDR87_HUMAN;.	W	1137;1098	ENSP00000405012:R1137W;ENSP00000368025:R1098W	ENSP00000368025:R1098W	R	-	1	2	WDR87	43072742	0.000000	0.05858	0.014000	0.15608	0.014000	0.08584	0.361000	0.20267	0.026000	0.15269	0.448000	0.29417	CGG	-	superfamily_ARM-type_fold		0.473	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	protein_coding	OTTHUMT00000314628.2	G	XM_940478	-		38380902	-1	no_errors	ENST00000447313	ensembl	human	known	74_37	missense	SNP	0.002	A
PRKCG	5582	genome.wustl.edu	37	19	54403679	54403679	+	Silent	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:54403679C>T	ENST00000263431.3	+	13	1662	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y	PRKCG_ENST00000542049.1_Silent_p.Y347Y|PRKCG_ENST00000540413.1_Silent_p.Y460Y	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	460	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cell death (GO:0008219)|chemosensory behavior (GO:0007635)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein ubiquitination (GO:0031397)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|positive regulation of mismatch repair (GO:0032425)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|response to morphine (GO:0043278)|response to pain (GO:0048265)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic membrane (GO:0097060)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)	Tamoxifen(DB00675)	CCAGGTTCTACGCGGCAGAAA	0.597																																																	0								ENSG00000126583						58.0	60.0	59.0					19																	54403679		2203	4300	6503	PRKCG	SO:0001819	synonymous_variant	0			-	HGNC	M13977	CCDS12867.1	19q13.4	2014-09-17			ENSG00000126583	ENSG00000126583	2.7.11.1		9402	protein-coding gene	gene with protein product	"""PKC-gamma"""	176980		PKCG, SCA14		8432525, 3755548	Standard	NM_002739		Approved	PKCC, MGC57564	uc002qcq.1	P05129	OTTHUMG00000064846	ENST00000263431.3:c.1380C>T	19.37:g.54403679C>T		Somatic	0	55	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	51	20.31	B7Z8Q0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.Y460	ENST00000263431.3	37	c.1380	CCDS12867.1	19																																																																																			-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_dom		0.597	PRKCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCG	protein_coding	OTTHUMT00000139233.3	C	NM_002739	-		54403679	+1	no_errors	ENST00000540413	ensembl	human	known	74_37	silent	SNP	0.992	T
MGAM	8972	genome.wustl.edu	37	7	141783107	141783107	+	Intron	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr7:141783107C>T	ENST00000549489.2	+	39	4713				MGAM_ENST00000475668.2_Missense_Mutation_p.T2092M	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)						carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCAGATGTGACGTTCCAGCCC	0.493																																																	0								ENSG00000257335																																			MGAM	SO:0001627	intron_variant	0			-	HGNC	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4619-11313C>T	7.37:g.141783107C>T		Somatic	0	36	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	39	9.30	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.T2092M	ENST00000549489.2	37	c.6275	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	C	12.11	1.840655	0.32513	.	.	ENSG00000257335	ENST00000475668	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	T	0.57051	0.2027	.	.	.	0.26914	N	0.966839	.	.	.	.	.	.	T	0.53272	-0.8462	5	0.48119	T	0.1	.	17.1238	0.86709	0.0:1.0:0.0:0.0	.	.	.	.	M	2093	.	ENSP00000417515:T2093M	T	+	2	0	MGAM	141429576	0.999000	0.42202	1.000000	0.80357	0.438000	0.31896	4.363000	0.59473	2.420000	0.82092	0.561000	0.74099	ACG	-	superfamily_Gal_mutarotase_SF_dom		0.493	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	protein_coding	OTTHUMT00000351244.3	C		-		141783107	+1	no_errors	ENST00000475668	ensembl	human	putative	74_37	missense	SNP	0.997	T
CEP350	9857	genome.wustl.edu	37	1	179983057	179983057	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:179983057G>A	ENST00000367607.3	+	10	1887	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	490					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						AACTCAGAACGTTCGAGAAGT	0.378																																																	0								ENSG00000135837						63.0	66.0	65.0					1																	179983057		2203	4300	6503	CEP350	SO:0001583	missense	0			-	HGNC	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.1469G>A	1.37:g.179983057G>A	ENSP00000356579:p.Arg490His	Somatic	0	44	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.R490H	ENST00000367607.3	37	c.1469	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.029035	0.54790	.	.	ENSG00000135837	ENST00000367607	T	0.13657	2.57	5.78	4.87	0.63330	.	0.130398	0.35207	N	0.003369	T	0.15046	0.0363	M	0.70595	2.14	0.46954	D	0.999269	B;P	0.34587	0.066;0.458	B;B	0.22880	0.01;0.042	T	0.02893	-1.1097	9	.	.	.	.	12.9124	0.58187	0.0757:0.0:0.9243:0.0	.	490;490	E7EU22;Q5VT06	.;CE350_HUMAN	H	490	ENSP00000356579:R490H	.	R	+	2	0	CEP350	178249680	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	3.219000	0.51200	1.443000	0.47586	0.650000	0.86243	CGT	-	NULL		0.378	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	protein_coding	OTTHUMT00000085315.2	G	NM_014810	-		179983057	+1	no_errors	ENST00000367607	ensembl	human	known	74_37	missense	SNP	1.000	A
ZSCAN1	284312	genome.wustl.edu	37	19	58564938	58564938	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:58564938G>A	ENST00000282326.1	+	6	993	c.746G>A	c.(745-747)cGa>cAa	p.R249Q		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	249					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ATCAGTCCCCGAAGGAGAAAC	0.607																																																	0								ENSG00000152467						60.0	63.0	62.0					19																	58564938		2203	4300	6503	ZSCAN1	SO:0001583	missense	0			-	HGNC	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.746G>A	19.37:g.58564938G>A	ENSP00000282326:p.Arg249Gln	Somatic	0	55	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	32	20.00	Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R249Q	ENST00000282326.1	37	c.746	CCDS12969.1	19	.	.	.	.	.	.	.	.	.	.	G	0.303	-0.972590	0.02215	.	.	ENSG00000152467	ENST00000282326	T	0.04706	3.57	1.14	-2.28	0.06826	.	.	.	.	.	T	0.01835	0.0058	N	0.08118	0	0.09310	N	0.999998	B	0.17667	0.023	B	0.04013	0.001	T	0.45366	-0.9266	9	0.16896	T	0.51	.	0.0561	0.00013	0.3205:0.2111:0.2246:0.2439	.	249	Q8NBB4	ZSCA1_HUMAN	Q	249	ENSP00000282326:R249Q	ENSP00000282326:R249Q	R	+	2	0	ZSCAN1	63256750	0.000000	0.05858	0.006000	0.13384	0.053000	0.15095	-1.232000	0.02936	-1.775000	0.01287	-0.339000	0.08088	CGA	-	NULL		0.607	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	protein_coding	OTTHUMT00000466427.1	G	NM_182572	-		58564938	+1	no_errors	ENST00000282326	ensembl	human	known	74_37	missense	SNP	0.015	A
RP1	6101	genome.wustl.edu	37	8	55534123	55534123	+	Silent	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr8:55534123C>T	ENST00000220676.1	+	2	745	c.597C>T	c.(595-597)taC>taT	p.Y199Y		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	199	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAAGCTGTACGCTACGGACG	0.577																																					Colon(91;1014 1389 7634 14542 40420)												0								ENSG00000104237						114.0	118.0	117.0					8																	55534123		2203	4300	6503	RP1	SO:0001819	synonymous_variant	0			-	HGNC	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.597C>T	8.37:g.55534123C>T		Somatic	0	44	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	38	13.64		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.Y199	ENST00000220676.1	37	c.597	CCDS6160.1	8																																																																																			-	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom		0.577	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	protein_coding	OTTHUMT00000378532.2	C	NM_006269	-		55534123	+1	no_errors	ENST00000220676	ensembl	human	known	74_37	silent	SNP	0.762	T
ATAD3C	219293	genome.wustl.edu	37	1	1386075	1386075	+	Silent	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:1386075C>T	ENST00000378785.2	+	1	1007	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	4							ATP binding (GO:0005524)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTCAAAGGACGCCCTGAATC	0.642																																																	0								ENSG00000215915						31.0	28.0	29.0					1																	1386075		692	1591	2283	ATAD3C	SO:0001819	synonymous_variant	0			-	HGNC	AK091918	CCDS44039.1	1p36.33	2010-04-21		2007-02-08	ENSG00000215915	ENSG00000215915		"""ATPases / AAA-type"""	32151	protein-coding gene	gene with protein product							Standard	NM_001039211		Approved	FLJ34599	uc001aft.2	Q5T2N8	OTTHUMG00000000531	ENST00000378785.2:c.12C>T	1.37:g.1386075C>T		Somatic	0	71	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	48	32.39	Q8N1Z5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3523,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.D4	ENST00000378785.2	37	c.12	CCDS44039.1	1																																																																																			-	NULL		0.642	ATAD3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3C	protein_coding	OTTHUMT00000001279.3	C	NM_001039211	-		1386075	+1	no_errors	ENST00000378785	ensembl	human	known	74_37	silent	SNP	0.972	T
SPINK5	11005	genome.wustl.edu	37	5	147499644	147499644	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr5:147499644C>T	ENST00000256084.7	+	25	2428	c.2386C>T	c.(2386-2388)Cgg>Tgg	p.R796W	SPINK5_ENST00000398454.1_Missense_Mutation_p.R796W|SPINK5_ENST00000359874.3_Missense_Mutation_p.R796W	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	796	Kazal-like 12. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACCCTGTCCGGGGTCCAGA	0.388																																																	0								ENSG00000133710						88.0	78.0	81.0					5																	147499644		1850	4100	5950	SPINK5	SO:0001583	missense	0			-	HGNC	AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2386C>T	5.37:g.147499644C>T	ENSP00000256084:p.Arg796Trp	Somatic	0	35	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	29	14.71	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kazal_dom,smart_Kazal_dom	p.R796W	ENST00000256084.7	37	c.2386	CCDS43382.1	5	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889670	0.72524	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.04706	3.57;3.57;3.57;3.57	5.56	4.67	0.58626	Proteinase inhibitor I1, Kazal (1);Protease inhibitor, Kazal-type (1);	0.155191	0.30473	N	0.009556	T	0.20455	0.0492	M	0.77616	2.38	0.30017	N	0.814676	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.998;1.0;1.0;1.0	T	0.03483	-1.1032	10	0.62326	D	0.03	-6.0089	12.0016	0.53235	0.1729:0.8271:0.0:0.0	.	777;796;796;796	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	W	796;796;777;796	ENSP00000381472:R796W;ENSP00000352936:R796W;ENSP00000421519:R777W;ENSP00000256084:R796W	ENSP00000256084:R796W	R	+	1	2	SPINK5	147479837	0.002000	0.14202	0.943000	0.38184	0.986000	0.74619	0.698000	0.25571	1.455000	0.47813	0.557000	0.71058	CGG	-	pfam_Kazal_dom,smart_Kazal_dom		0.388	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	protein_coding	OTTHUMT00000259215.2	C	NM_001127698	-		147499644	+1	no_errors	ENST00000359874	ensembl	human	known	74_37	missense	SNP	0.959	T
TAS1R1	80835	genome.wustl.edu	37	1	6635087	6635087	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:6635087G>A	ENST00000333172.6	+	3	1088	c.895G>A	c.(895-897)Gcc>Acc	p.A299T	TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.A299T	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	299					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGTGTGGGTCGCCTCAGAAGC	0.647																																																	0								ENSG00000173662						36.0	41.0	39.0					1																	6635087		2203	4300	6503	TAS1R1	SO:0001583	missense	0			-	HGNC		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.895G>A	1.37:g.6635087G>A	ENSP00000331867:p.Ala299Thr	Somatic	0	32	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	27	25.00	B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3	p.A299T	ENST00000333172.6	37	c.895	CCDS81.1	1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251435	0.80135	.	.	ENSG00000173662	ENST00000333172;ENST00000328191	D;D	0.84730	-1.89;-1.89	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.055304	0.64402	D	0.000001	D	0.93572	0.7948	M	0.88450	2.955	0.45415	D	0.998397	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.973	D	0.94563	0.7764	10	0.87932	D	0	.	18.1607	0.89707	0.0:0.0:1.0:0.0	.	299;299	Q7RTX1-3;Q7RTX1	.;TS1R1_HUMAN	T	299	ENSP00000331867:A299T;ENSP00000327705:A299T	ENSP00000327705:A299T	A	+	1	0	TAS1R1	6557674	1.000000	0.71417	0.892000	0.35008	0.237000	0.25408	7.639000	0.83342	2.497000	0.84241	0.655000	0.94253	GCC	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I		0.647	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R1	protein_coding	OTTHUMT00000004211.1	G		-		6635087	+1	no_errors	ENST00000333172	ensembl	human	known	74_37	missense	SNP	1.000	A
SEMA6D	80031	genome.wustl.edu	37	15	48057167	48057167	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr15:48057167G>T	ENST00000316364.5	+	13	1780	c.1341G>T	c.(1339-1341)atG>atT	p.M447I	SEMA6D_ENST00000536845.2_Missense_Mutation_p.M447I|SEMA6D_ENST00000389428.3_Missense_Mutation_p.M447I|SEMA6D_ENST00000354744.4_Missense_Mutation_p.M447I|SEMA6D_ENST00000389433.2_Missense_Mutation_p.M447I|SEMA6D_ENST00000358066.4_Missense_Mutation_p.M447I|SEMA6D_ENST00000389432.2_Missense_Mutation_p.M447I|SEMA6D_ENST00000389425.3_Missense_Mutation_p.M447I|SEMA6D_ENST00000558816.1_Missense_Mutation_p.M447I|SEMA6D_ENST00000558014.1_Missense_Mutation_p.M447I|SEMA6D_ENST00000537942.1_Missense_Mutation_p.M447I|SEMA6D_ENST00000355997.3_Missense_Mutation_p.M447I	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	447	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAGCTGGCATGGTACTTAAAG	0.468																																																	0								ENSG00000137872						127.0	110.0	116.0					15																	48057167		2198	4297	6495	SEMA6D	SO:0001583	missense	0			-	HGNC	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1341G>T	15.37:g.48057167G>T	ENSP00000324857:p.Met447Ile	Somatic	0	57	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	49	16.95	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom	p.M447I	ENST00000316364.5	37	c.1341	CCDS32225.1	15	.	.	.	.	.	.	.	.	.	.	G	3.467	-0.108758	0.06924	.	.	ENSG00000137872	ENST00000537942;ENST00000536845;ENST00000316364;ENST00000389433;ENST00000389432;ENST00000354744;ENST00000358066;ENST00000389428;ENST00000355997;ENST00000389425	T;T;T;T;T;T;T;T;T;T	0.09911	2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93;2.93	5.59	1.42	0.22433	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.235180	0.43110	D	0.000608	T	0.02418	0.0074	N	0.00885	-1.115	0.09310	N	0.999999	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	0.44174	-0.9345	10	0.16896	T	0.51	.	4.786	0.13225	0.2056:0.0:0.4368:0.3575	.	447;447;447;447;447	Q8NFY4-3;A6NM95;Q8NFY4-4;Q8NFY4;Q8NFY4-2	.;.;.;SEM6D_HUMAN;.	I	447	ENSP00000442040:M447I;ENSP00000446152:M447I;ENSP00000324857:M447I;ENSP00000374084:M447I;ENSP00000374083:M447I;ENSP00000346786:M447I;ENSP00000350770:M447I;ENSP00000374079:M447I;ENSP00000348276:M447I;ENSP00000374076:M447I	ENSP00000324857:M447I	M	+	3	0	SEMA6D	45844459	1.000000	0.71417	0.939000	0.37840	0.970000	0.65996	1.267000	0.33050	0.270000	0.21984	-0.136000	0.14681	ATG	-	pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom		0.468	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	protein_coding	OTTHUMT00000416868.1	G	NM_024966	-		48057167	+1	no_errors	ENST00000316364	ensembl	human	known	74_37	missense	SNP	0.849	T
ELOVL2	54898	genome.wustl.edu	37	6	10995345	10995345	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr6:10995345C>T	ENST00000354666.3	-	5	483	c.400G>A	c.(400-402)Gtt>Att	p.V134I		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	134					alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|fatty acid elongation, polyunsaturated fatty acid (GO:0034626)|linoleic acid metabolic process (GO:0043651)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	fatty acid elongase activity (GO:0009922)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TTCCGCAAAACGAAGAAAATT	0.393																																																	0								ENSG00000197977						119.0	114.0	115.0					6																	10995345		2203	4300	6503	ELOVL2	SO:0001583	missense	0			-	HGNC	AK000341	CCDS4518.1	6p24.1	2011-05-25	2011-05-25		ENSG00000197977	ENSG00000197977			14416	protein-coding gene	gene with protein product		611814	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 2"""			12371743, 16564093	Standard	NM_017770		Approved	Ssc2	uc003mzp.4	Q9NXB9	OTTHUMG00000014252	ENST00000354666.3:c.400G>A	6.37:g.10995345C>T	ENSP00000346693:p.Val134Ile	Somatic	0	32	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	51	13.56	Q6P9E1|Q86W94	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GNS1_SUR4	p.V134I	ENST00000354666.3	37	c.400	CCDS4518.1	6	.	.	.	.	.	.	.	.	.	.	C	8.296	0.818763	0.16607	.	.	ENSG00000197977	ENST00000354666	T	0.27402	1.67	5.75	5.75	0.90469	.	0.000000	0.64402	D	0.000001	T	0.07324	0.0185	N	0.04994	-0.135	0.53005	D	0.999967	B	0.33777	0.425	B	0.32583	0.148	T	0.11542	-1.0583	10	0.06099	T	0.92	-1.6025	19.9598	0.97242	0.0:1.0:0.0:0.0	.	134	Q9NXB9	ELOV2_HUMAN	I	134	ENSP00000346693:V134I	ENSP00000346693:V134I	V	-	1	0	ELOVL2	11103331	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.648000	0.61425	2.716000	0.92895	0.655000	0.94253	GTT	-	pfam_GNS1_SUR4		0.393	ELOVL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL2	protein_coding	OTTHUMT00000039849.1	C		-		10995345	-1	no_errors	ENST00000354666	ensembl	human	known	74_37	missense	SNP	1.000	T
ABT1	29777	genome.wustl.edu	37	6	26598573	26598573	+	Silent	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr6:26598573G>A	ENST00000274849.1	+	3	550	c.519G>A	c.(517-519)gcG>gcA	p.A173A		NM_013375.3	NP_037507.1	Q9ULW3	ABT1_HUMAN	activator of basal transcription 1	173					regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord motor neuron differentiation (GO:0021522)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11						GCTTGAGAGCGGAGGTTGCTC	0.592																																																	0								ENSG00000146109						83.0	82.0	83.0					6																	26598573		2203	4300	6503	ABT1	SO:0001819	synonymous_variant	0			-	HGNC	AB027258	CCDS4616.1	6p21.31	2008-07-07			ENSG00000146109	ENSG00000146109			17369	protein-coding gene	gene with protein product						10648625	Standard	NM_013375		Approved		uc003nii.3	Q9ULW3	OTTHUMG00000016319	ENST00000274849.1:c.519G>A	6.37:g.26598573G>A		Somatic	0	107	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	86	21.10		Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A173	ENST00000274849.1	37	c.519	CCDS4616.1	6																																																																																			-	NULL		0.592	ABT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABT1	protein_coding	OTTHUMT00000043698.1	G		-		26598573	+1	no_errors	ENST00000274849	ensembl	human	known	74_37	silent	SNP	0.188	A
SPRED1	161742	genome.wustl.edu	37	15	38641674	38641674	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr15:38641674G>A	ENST00000299084.4	+	6	1494	c.634G>A	c.(634-636)Gta>Ata	p.V212I		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	212					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		TATGGAATACGTACAGCGGCA	0.328									Legius syndrome																												Melanoma(196;2146 2959 7698 16532)												0								ENSG00000166068						99.0	93.0	95.0					15																	38641674		2200	4297	6497	SPRED1	SO:0001583	missense	0	Familial Cancer Database	Neurofibromatosis type 1 - like syndrome, SPRED1 disorder	-	HGNC	AK091222	CCDS32193.1	15q14	2014-06-13			ENSG00000166068	ENSG00000166068			20249	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 147"""	609291					Standard	NM_152594		Approved	FLJ33903, PPP1R147	uc001zka.4	Q7Z699		ENST00000299084.4:c.634G>A	15.37:g.38641674G>A	ENSP00000299084:p.Val212Ile	Somatic	0	43	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	B2RPJ8|Q05D53|Q8N256	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1	p.V212I	ENST00000299084.4	37	c.634	CCDS32193.1	15	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517971	0.27211	.	.	ENSG00000166068	ENST00000299084	T	0.72615	-0.67	5.16	4.24	0.50183	.	0.424608	0.21139	N	0.079510	T	0.56093	0.1962	L	0.36672	1.1	0.24063	N	0.996003	B	0.02656	0.0	B	0.01281	0.0	T	0.32851	-0.9891	10	0.21540	T	0.41	-20.5914	8.6332	0.33933	0.1024:0.0:0.8976:0.0	.	212	Q7Z699	SPRE1_HUMAN	I	212	ENSP00000299084:V212I	ENSP00000299084:V212I	V	+	1	0	SPRED1	36428966	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.061000	0.41403	2.428000	0.82296	0.650000	0.86243	GTA	-	NULL		0.328	SPRED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRED1	protein_coding	OTTHUMT00000418217.1	G		-		38641674	+1	no_errors	ENST00000299084	ensembl	human	known	74_37	missense	SNP	0.997	A
ACACB	32	genome.wustl.edu	37	12	109698439	109698439	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:109698439A>T	ENST00000338432.7	+	48	6770	c.6651A>T	c.(6649-6651)gaA>gaT	p.E2217D	ACACB_ENST00000377848.3_Missense_Mutation_p.E2217D|ACACB_ENST00000377854.5_Missense_Mutation_p.E2147D|ACACB_ENST00000543201.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2217	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	TGTGCATAGAAATGTATGCAG	0.537																																																	0								ENSG00000076555						130.0	131.0	131.0					12																	109698439		2203	4300	6503	ACACB	SO:0001583	missense	0			-	HGNC	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.6651A>T	12.37:g.109698439A>T	ENSP00000341044:p.Glu2217Asp	Somatic	0	92	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	81	10.99	A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl	p.E2217D	ENST00000338432.7	37	c.6651	CCDS31898.1	12	.	.	.	.	.	.	.	.	.	.	A	21.1	4.095376	0.76870	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027	T;T;T	0.33865	1.39;1.39;1.39	5.09	-9.61	0.00550	Acetyl-coenzyme A carboxyltransferase, C-terminal (1);Carboxyl transferase (1);	0.000000	0.85682	D	0.000000	T	0.67230	0.2871	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.83082	-0.0137	10	0.87932	D	0	.	23.2191	0.99981	0.2192:0.0:0.7808:0.0	.	2217	O00763	ACACB_HUMAN	D	2217;2217;2147;1448	ENSP00000341044:E2217D;ENSP00000367079:E2217D;ENSP00000367085:E2147D	ENSP00000341044:E2217D	E	+	3	2	ACACB	108182822	0.999000	0.42202	0.438000	0.26821	0.638000	0.38207	0.516000	0.22817	-2.015000	0.00947	-0.912000	0.02778	GAA	-	pfam_Carboxyl_trans,pfscan_COA_CT_C		0.537	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACACB	protein_coding	OTTHUMT00000403077.1	A	NM_001093	-		109698439	+1	no_errors	ENST00000338432	ensembl	human	known	74_37	missense	SNP	0.921	T
LPCAT4	254531	genome.wustl.edu	37	15	34651485	34651489	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	GAGAA	GAGAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr15:34651485_34651489delGAGAA	ENST00000314891.6	-	14	1591_1595	c.1414_1418delTTCTC	c.(1414-1419)ttctccfs	p.FS472fs		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	472					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphoethanolamine O-acyltransferase activity (GO:0047166)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)|lysophospholipid acyltransferase activity (GO:0071617)			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						GTCATGGAGGGAGAAGTTCTGGAAC	0.502																																																	0								ENSG00000176454																																			LPCAT4	SO:0001589	frameshift_variant	0				HGNC	AF542964	CCDS32191.1	15q14	2008-07-02	2008-06-24	2008-06-24		ENSG00000176454			30059	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 2"""	612039	"""acyltransferase like 3"", ""1-acylglycerol-3-phosphate O-acyltransferase 7 (lysophosphatidic acid acyltransferase, eta)"""	AYTL3, AGPAT7		8619474, 9110174, 16243729, 18458083	Standard	XR_243087		Approved	FLJ10257, LPAAT-eta, LPEAT2	uc001zig.3	Q643R3		ENST00000314891.6:c.1414_1418delTTCTC	15.37:g.34651485_34651489delGAGAA	ENSP00000317300:p.Phe472fs	Somatic	NA	NA	NA		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8K2K8|O43412|Q7Z4P4|Q8IUL7|Q8TB38	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.F472fs	ENST00000314891.6	37	c.1418_1414	CCDS32191.1	15																																																																																			-	NULL		0.502	LPCAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT4	protein_coding	OTTHUMT00000418028.2	GAGAA	NM_153613			34651489	-1	no_errors	ENST00000314891	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000	-
MGAM2	93432	genome.wustl.edu	37	7	141871131	141871131	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr7:141871131G>A	ENST00000477922.3	+	28	3296	c.3242G>A	c.(3241-3243)cGt>cAt	p.R1081H																	endometrium(1)|lung(5)	6						ATTTCTACGCGTCTGCCGTCC	0.478																																																	0								ENSG00000257743																																			RP11-1220K2.2	SO:0001583	missense	0			-	Clone_based_vega_gene																												ENST00000477922.3:c.3242G>A	7.37:g.141871131G>A	ENSP00000420449:p.Arg1081His	Somatic	0	119	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	120	13.04		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil	p.R1081H	ENST00000477922.3	37	c.3242		7	.	.	.	.	.	.	.	.	.	.	G	11.86	1.764716	0.31228	.	.	ENSG00000257743	ENST00000477922;ENST00000550494	.	.	.	4.93	4.93	0.64822	.	0.000000	0.56097	D	0.000027	T	0.44540	0.1298	.	.	.	.	.	.	.	.	.	.	.	.	T	0.49244	-0.8960	5	0.14656	T	0.56	.	10.9474	0.47308	0.0:0.0:0.7114:0.2886	.	.	.	.	H	1049;8	.	ENSP00000367474:R8H	R	+	2	0	RP11-1220K2.2	141517600	0.030000	0.19436	0.988000	0.46212	0.045000	0.14185	0.911000	0.28584	2.708000	0.92522	0.563000	0.77884	CGT	-	superfamily_Gal_mutarotase_SF_dom		0.478	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000257743	protein_coding	OTTHUMT00000351325.3	G		-		141871131	+1	no_errors	ENST00000477922	ensembl	human	putative	74_37	missense	SNP	0.948	A
SPHK2	56848	genome.wustl.edu	37	19	49129289	49129289	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:49129289C>T	ENST00000245222.4	+	3	547	c.181C>T	c.(181-183)Cga>Tga	p.R61*	SPHK2_ENST00000598088.1_Nonsense_Mutation_p.R61*|AC022154.7_ENST00000600303.1_RNA|SPHK2_ENST00000599029.1_Nonsense_Mutation_p.R25*|AC022154.7_ENST00000594850.1_RNA|AC022154.7_ENST00000598735.1_RNA|SPHK2_ENST00000443164.1_Nonsense_Mutation_p.R123*|SPHK2_ENST00000601712.1_Nonsense_Mutation_p.R25*|SPHK2_ENST00000600537.1_Intron|SPHK2_ENST00000599033.1_Intron|SPHK2_ENST00000599748.1_Nonsense_Mutation_p.R25*|SPHK2_ENST00000340932.3_Nonsense_Mutation_p.R25*	NM_001204158.2|NM_001243876.1|NM_020126.4	NP_001191087.1|NP_001230805.1|NP_064511.2	Q9NRA0	SPHK2_HUMAN	sphingosine kinase 2	61	Required for binding to sulfatide and phosphoinositides and for membrane localization.				blood vessel development (GO:0001568)|brain development (GO:0007420)|cell proliferation (GO:0008283)|lipid phosphorylation (GO:0046834)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphinganine-1-phosphate biosynthetic process (GO:0006669)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine metabolic process (GO:0006670)	cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	ATP binding (GO:0005524)|D-erythro-sphingosine kinase activity (GO:0017050)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)|Ras GTPase binding (GO:0017016)|sphinganine kinase activity (GO:0008481)			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CTACCCAGCCCGAGGCCCACG	0.692																																																	0								ENSG00000063176						38.0	37.0	38.0					19																	49129289		2202	4299	6501	SPHK2	SO:0001587	stop_gained	0			-	HGNC	AF245447	CCDS12727.1, CCDS59404.1, CCDS59405.1, CCDS74414.1	19q13.33	2013-09-20			ENSG00000063176	ENSG00000063176			18859	protein-coding gene	gene with protein product		607092				10751414, 17895250	Standard	NM_020126		Approved		uc002pjs.3	Q9NRA0	OTTHUMG00000183318	ENST00000245222.4:c.181C>T	19.37:g.49129289C>T	ENSP00000245222:p.Arg61*	Somatic	0	34	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	29	21.62	A0T4C8|B4DU87|Q9BRN1|Q9H0Q2|Q9NWU7	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kinase_cat_dom	p.R123*	ENST00000245222.4	37	c.367	CCDS12727.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.665699	0.96745	.	.	ENSG00000063176	ENST00000245222;ENST00000406269;ENST00000340932;ENST00000443164	.	.	.	4.16	1.96	0.26148	.	1.489510	0.04152	N	0.321466	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-27.9896	5.1356	0.14934	0.3623:0.5373:0.0:0.1003	.	.	.	.	X	61;61;25;123	.	ENSP00000245222:R61X	R	+	1	2	SPHK2	53821101	0.668000	0.27493	0.057000	0.19452	0.557000	0.35523	0.996000	0.29719	0.493000	0.27837	0.557000	0.71058	CGA	-	NULL		0.692	SPHK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHK2	protein_coding	OTTHUMT00000466153.1	C		-		49129289	+1	no_errors	ENST00000443164	ensembl	human	known	74_37	nonsense	SNP	0.058	T
CASQ2	845	genome.wustl.edu	37	1	116247891	116247891	+	Silent	SNP	G	G	T	rs143718767	byFrequency	TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:116247891G>T	ENST00000261448.5	-	9	1100	c.861C>A	c.(859-861)atC>atA	p.I287I	CASQ2_ENST00000456138.2_Silent_p.I216I	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	287					cardiac muscle contraction (GO:0060048)|cellular response to caffeine (GO:0071313)|detection of calcium ion (GO:0005513)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|protein polymerization (GO:0051258)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of heart rate (GO:0002027)|regulation of membrane repolarization (GO:0060306)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|sequestering of calcium ion (GO:0051208)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|junctional sarcoplasmic reticulum membrane (GO:0014701)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCTGTTTCAGGATCTCCAGGA	0.522																																																	0								ENSG00000118729	G		4,4402	8.1+/-20.4	0,4,2199	115.0	111.0	113.0		861	4.7	1.0	1	dbSNP_134	113	0,8600		0,0,4300	no	coding-synonymous	CASQ2	NM_001232.3		0,4,6499	TT,TG,GG		0.0,0.0908,0.0308		287/400	116247891	4,13002	2203	4300	6503	CASQ2	SO:0001819	synonymous_variant	0			-	HGNC	BC022288	CCDS884.1	1p13.1	2014-09-17			ENSG00000118729	ENSG00000118729		"""Protein disulfide isomerases"""	1513	protein-coding gene	gene with protein product		114251				8406504	Standard	NM_001232		Approved	PDIB2	uc001efx.4	O14958	OTTHUMG00000011970	ENST00000261448.5:c.861C>A	1.37:g.116247891G>T		Somatic	0	56	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	45	26.23	B2R7M6|B4DIB0|Q5T1D2|Q8TBW8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin	p.I287	ENST00000261448.5	37	c.861	CCDS884.1	1																																																																																			-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold		0.522	CASQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASQ2	protein_coding	OTTHUMT00000033091.1	G	NM_001232	rs143718767		116247891	-1	no_errors	ENST00000261448	ensembl	human	known	74_37	silent	SNP	1.000	T
MYO15A	51168	genome.wustl.edu	37	17	18023186	18023186	+	Missense_Mutation	SNP	C	C	A	rs367955736		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr17:18023186C>A	ENST00000205890.5	+	2	1410	c.1072C>A	c.(1072-1074)Ctc>Atc	p.L358I		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	358					inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACCCTATGACCTCCCATACCA	0.597																																																	0								ENSG00000091536						97.0	107.0	103.0					17																	18023186		2039	4183	6222	MYO15A	SO:0001583	missense	0			-	HGNC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.1072C>A	17.37:g.18023186C>A	ENSP00000205890:p.Leu358Ile	Somatic	0	59	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	62	13.89	B4DFC7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.L358I	ENST00000205890.5	37	c.1072	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	8.776	0.927103	0.18056	.	.	ENSG00000091536	ENST00000205890	D	0.88354	-2.37	3.64	2.32	0.28847	.	.	.	.	.	T	0.77525	0.4143	N	0.19112	0.55	0.58432	D	0.999993	B	0.26935	0.164	B	0.25405	0.06	T	0.68078	-0.5504	9	0.30854	T	0.27	.	6.2698	0.20949	0.0:0.6967:0.0:0.3033	.	358	Q9UKN7	MYO15_HUMAN	I	358	ENSP00000205890:L358I	ENSP00000205890:L358I	L	+	1	0	MYO15A	17963911	0.000000	0.05858	0.549000	0.28204	0.485000	0.33311	-0.320000	0.08028	0.784000	0.33661	0.561000	0.74099	CTC	-	NULL		0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	protein_coding	OTTHUMT00000132048.1	C	NM_016239	-		18023186	+1	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	SNP	0.759	A
MLLT6	4302	genome.wustl.edu	37	17	36883244	36883244	+	3'UTR	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr17:36883244C>T	ENST00000325718.7	+	0	4766					NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGAGGCAAGGCGAAGCCTGTG	0.597			T	MLL	AL																																			Dom	yes		17	17q21	4302	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""		L	0								ENSG00000108292																																			MLLT6	SO:0001624	3_prime_UTR_variant	0			-	HGNC		CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.*1393C>T	17.37:g.36883244C>T		Somatic	0	73	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	39	18.75	Q59F28|Q96IU3|Q9H5F6|Q9UF49	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000325718.7	37	NULL	CCDS11327.1	17																																																																																			-	-		0.597	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLLT6	protein_coding	OTTHUMT00000256799.1	C	NM_005937	-		36883244	+1	no_errors	ENST00000582830	ensembl	human	putative	74_37	rna	SNP	0.075	T
LINC01287	103724390	genome.wustl.edu	37	7	153110123	153110123	+	lincRNA	SNP	G	G	A	rs564772224	byFrequency	TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr7:153110123G>A	ENST00000416982.1	-	0	925																											ttgtgccagcgaaaacacttg	0.547													g|||	6	0.00119808	0.0	0.0	5008	,	,		15236	0.0		0.0	False		,,,				2504	0.0061																0								ENSG00000234722						43.0	49.0	47.0					7																	153110123		692	1591	2283	AC073236.3			0			-	Clone_based_vega_gene																													7.37:g.153110123G>A		Somatic	0	94	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	80	13.98		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000416982.1	37	NULL		7																																																																																			-	-		0.547	AC073236.3-001	KNOWN	basic	lincRNA	ENSG00000234722	lincRNA	OTTHUMT00000280517.1	G		-		153110123	-1	no_errors	ENST00000416982	ensembl	human	known	74_37	rna	SNP	0.000	A
TAPBPL	55080	genome.wustl.edu	37	12	6567949	6567949	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:6567949C>G	ENST00000266556.7	+	5	1208	c.1043C>G	c.(1042-1044)tCt>tGt	p.S348C	TAPBPL_ENST00000545700.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	348	Ig-like C1-type.				negative regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002590)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						GCCCAAGTCTCTGGTGCCTCC	0.612																																																	0								ENSG00000139192						102.0	91.0	95.0					12																	6567949		2203	4300	6503	TAPBPL	SO:0001583	missense	0			-	HGNC	AK001005	CCDS8546.1	12p13.31	2013-01-11						"""Immunoglobulin superfamily / C1-set domain containing"""	30683	protein-coding gene	gene with protein product		607081				11920573	Standard	NM_018009		Approved	TAPBP-R, FLJ10143, TAPBPR	uc001qog.4	Q9BX59		ENST00000266556.7:c.1043C>G	12.37:g.6567949C>G	ENSP00000266556:p.Ser348Cys	Somatic	0	103	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	107	15.08	Q9NWB8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_C1-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom	p.S348C	ENST00000266556.7	37	c.1043	CCDS8546.1	12	.	.	.	.	.	.	.	.	.	.	C	16.83	3.231418	0.58777	.	.	ENSG00000139192	ENST00000266556	T	0.03124	4.04	5.22	5.22	0.72569	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.663946	0.16299	N	0.220535	T	0.22936	0.0554	M	0.92026	3.265	0.09310	N	0.999992	D	0.71674	0.998	D	0.65323	0.934	T	0.09930	-1.0652	10	0.72032	D	0.01	-6.9973	14.6634	0.68891	0.0:1.0:0.0:0.0	.	348	Q9BX59	TPSNR_HUMAN	C	348	ENSP00000266556:S348C	ENSP00000266556:S348C	S	+	2	0	TAPBPL	6438210	0.943000	0.32029	0.286000	0.24833	0.897000	0.52465	5.094000	0.64523	2.603000	0.88011	0.650000	0.86243	TCT	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom		0.612	TAPBPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPBPL	protein_coding	OTTHUMT00000399263.1	C	NM_018009	-		6567949	+1	no_errors	ENST00000266556	ensembl	human	known	74_37	missense	SNP	0.194	G
FLT4	2324	genome.wustl.edu	37	5	180040031	180040031	+	Silent	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr5:180040031C>T	ENST00000261937.6	-	25	3489	c.3411G>A	c.(3409-3411)ccG>ccA	p.P1137P	FLT4_ENST00000393347.3_Silent_p.P1137P|FLT4_ENST00000502649.1_Silent_p.P1137P	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1137	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		P -> S (in HCI). {ECO:0000269|PubMed:11807987}.		blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGCCAGCTCCGGGGCCCTCA	0.652																																					Colon(97;1075 1466 27033 27547 35871)												0								ENSG00000037280						52.0	62.0	59.0					5																	180040031		2203	4299	6502	FLT4	SO:0001819	synonymous_variant	0			-	HGNC	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.3411G>A	5.37:g.180040031C>T		Somatic	0	110	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	102	15.70	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt	p.P1137	ENST00000261937.6	37	c.3411	CCDS4457.1	5																																																																																			-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.652	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	protein_coding	OTTHUMT00000253527.4	C		-		180040031	-1	no_errors	ENST00000261937	ensembl	human	known	74_37	silent	SNP	0.950	T
CCDC63	160762	genome.wustl.edu	37	12	111322003	111322003	+	Silent	SNP	G	G	A	rs549200490	byFrequency	TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:111322003G>A	ENST00000308208.5	+	8	1265	c.1023G>A	c.(1021-1023)acG>acA	p.T341T	CCDC63_ENST00000545036.1_Silent_p.T301T|CCDC63_ENST00000552694.1_Silent_p.T262T	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	341										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CGTATGTCACGGAGCTCAACA	0.552													G|||	2	0.000399361	0.0	0.0	5008	,	,		20757	0.002		0.0	False		,,,				2504	0.0																0								ENSG00000173093						114.0	105.0	108.0					12																	111322003		2203	4300	6503	CCDC63	SO:0001819	synonymous_variant	0			-	HGNC	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1023G>A	12.37:g.111322003G>A		Somatic	0	62	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	10.00	B4DY03|Q0P603|Q6P2E1	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.T341	ENST00000308208.5	37	c.1023	CCDS9151.1	12																																																																																			-	NULL		0.552	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC63	protein_coding	OTTHUMT00000404673.2	G	NM_152591	-		111322003	+1	no_errors	ENST00000308208	ensembl	human	known	74_37	silent	SNP	0.777	A
FPGT	8790	genome.wustl.edu	37	1	74670983	74670983	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:74670983G>A	ENST00000609362.1	+	4	1289	c.1252G>A	c.(1252-1254)Gtt>Att	p.V418I	FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.V431I|FPGT_ENST00000534056.1_Missense_Mutation_p.V164I|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT_ENST00000370894.5_Silent_p.Q145Q|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT_ENST00000524915.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	418					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						ACCTGGCTCAGTTGTGGAGTA	0.433																																																	0								ENSG00000254685						98.0	106.0	103.0					1																	74670983		2203	4299	6502	FPGT	SO:0001583	missense	0			-	HGNC	AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.1252G>A	1.37:g.74670983G>A	ENSP00000476680:p.Val418Ile	Somatic	0	68	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	62	27.91	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.V431I	ENST00000609362.1	37	c.1291	CCDS663.1	1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089896	0.55968	.	.	ENSG00000254685	ENST00000370898;ENST00000534056	T;T	0.36699	1.24;1.24	5.72	4.81	0.61882	L-fucokinase (1);	.	.	.	.	T	0.15349	0.0370	.	.	.	0.80722	D	1	P;B;P	0.38129	0.619;0.45;0.479	B;B;B	0.40228	0.323;0.214;0.318	T	0.04400	-1.0954	8	0.18710	T	0.47	.	11.1241	0.48308	0.192:0.0:0.808:0.0	.	164;43;418	E9PNQ2;B4E2Y7;O14772	.;.;FPGT_HUMAN	I	418;164	ENSP00000359935:V418I;ENSP00000432819:V164I	ENSP00000359935:V418I	V	+	1	0	TNNI3K	74443571	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	2.773000	0.47686	1.421000	0.47157	0.655000	0.94253	GTT	-	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase		0.433	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	protein_coding		G		-		74670983	+1	no_errors	ENST00000370898	ensembl	human	known	74_37	missense	SNP	1.000	A
CACNA1E	777	genome.wustl.edu	37	1	181727998	181727998	+	Silent	SNP	C	C	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:181727998C>A	ENST00000367573.2	+	32	4599	c.4599C>A	c.(4597-4599)ggC>ggA	p.G1533G	CACNA1E_ENST00000367570.1_Silent_p.G1533G|CACNA1E_ENST00000367567.4_Silent_p.G1140G|CACNA1E_ENST00000358338.5_Silent_p.G1465G|CACNA1E_ENST00000526775.1_Silent_p.G1514G|CACNA1E_ENST00000357570.5_Silent_p.G1484G|CACNA1E_ENST00000360108.3_Silent_p.G1514G	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1533					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCGCTTTTGGCTTTTTGGTAT	0.498																																																	0								ENSG00000198216						208.0	189.0	195.0					1																	181727998		1973	4160	6133	CACNA1E	SO:0001819	synonymous_variant	0			-	HGNC	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4599C>A	1.37:g.181727998C>A		Somatic	0	164	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	160	10.61	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.G1533	ENST00000367573.2	37	c.4599	CCDS55664.1	1																																																																																			-	pfam_Ion_trans_dom		0.498	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	protein_coding	OTTHUMT00000090793.2	C	NM_000721	-		181727998	+1	no_errors	ENST00000367573	ensembl	human	known	74_37	silent	SNP	1.000	A
HTT	3064	genome.wustl.edu	37	4	3215720	3215720	+	Silent	SNP	G	G	A	rs370817761		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr4:3215720G>A	ENST00000355072.5	+	50	6955	c.6810G>A	c.(6808-6810)ccG>ccA	p.P2270P		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2270					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCAGATCCCGCTGAGTCTGG	0.597																																																	0								ENSG00000197386	G		0,4120		0,0,2060	67.0	72.0	70.0		6810	-10.7	0.8	4		70	1,8363		0,1,4181	no	coding-synonymous	HTT	NM_002111.6		0,1,6241	AA,AG,GG		0.012,0.0,0.0080		2270/3143	3215720	1,12483	2060	4182	6242	HTT	SO:0001819	synonymous_variant	0			-	HGNC	L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.6810G>A	4.37:g.3215720G>A		Somatic	0	45	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	36	26.53	Q9UQB7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.P2270	ENST00000355072.5	37	c.6810	CCDS43206.1	4																																																																																			-	NULL		0.597	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	protein_coding	OTTHUMT00000358234.2	G	NM_002111	-		3215720	+1	no_errors	ENST00000355072	ensembl	human	known	74_37	silent	SNP	0.508	A
GPR151	134391	genome.wustl.edu	37	5	145894881	145894881	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr5:145894881C>T	ENST00000311104.2	-	1	872	c.796G>A	c.(796-798)Gaa>Aaa	p.E266K		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	266						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCTACCCATTCGGGGAGCCAC	0.507																																					Pancreas(78;420 1386 18535 37114 49710)												0								ENSG00000173250						53.0	56.0	55.0					5																	145894881		2203	4300	6503	GPR151	SO:0001583	missense	0			-	HGNC	AY255557	CCDS34266.1	5q32	2012-08-21						"""GPCR / Class A : Orphans"""	23624	protein-coding gene	gene with protein product	"""galanin receptor 4"""					12679517	Standard	NM_194251		Approved	PGR7, GALR4	uc003lod.1	Q8TDV0		ENST00000311104.2:c.796G>A	5.37:g.145894881C>T	ENSP00000308733:p.Glu266Lys	Somatic	0	30	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	27	28.95	Q86SN8|Q8NGV2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E266K	ENST00000311104.2	37	c.796	CCDS34266.1	5	.	.	.	.	.	.	.	.	.	.	C	14.69	2.611492	0.46631	.	.	ENSG00000173250	ENST00000311104	T	0.71698	-0.59	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.113216	0.64402	D	0.000016	T	0.78502	0.4293	M	0.62723	1.935	0.36830	D	0.886822	D	0.76494	0.999	P	0.59424	0.857	T	0.80365	-0.1413	10	0.39692	T	0.17	.	13.0873	0.59149	0.0:0.9232:0.0:0.0768	.	266	Q8TDV0	GP151_HUMAN	K	266	ENSP00000308733:E266K	ENSP00000308733:E266K	E	-	1	0	GPR151	145875074	1.000000	0.71417	0.101000	0.21167	0.018000	0.09664	4.172000	0.58243	2.808000	0.96608	0.655000	0.94253	GAA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.507	GPR151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR151	protein_coding	OTTHUMT00000373457.1	C	NM_194251	-		145894881	-1	no_errors	ENST00000311104	ensembl	human	known	74_37	missense	SNP	0.894	T
RNF212	285498	genome.wustl.edu	37	4	1087327	1087328	+	Intron	INS	-	-	CTGCCCAGGCTGGAGCCAGCC	rs376912904|rs386670461|rs142232513|rs539986150|rs138488801	byFrequency	TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr4:1087327_1087328insCTGCCCAGGCTGGAGCCAGCC	ENST00000433731.2	-	4	308				RNF212_ENST00000333673.5_In_Frame_Ins_p.241_241S>WLAPAWAA|RNF212_ENST00000382968.5_Intron			Q495C1	RN212_HUMAN	ring finger protein 212						chiasma assembly (GO:0051026)|meiotic gene conversion (GO:0006311)|protein sumoylation (GO:0016925)|reciprocal meiotic recombination (GO:0007131)	synaptonemal complex (GO:0000795)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	10			OV - Ovarian serous cystadenocarcinoma(23;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (64;0.151)		CAGAGCCTGTGACCTCCACGGC	0.619																																																	0								ENSG00000178222																																			RNF212	SO:0001627	intron_variant	0				HGNC	AK096160	CCDS3345.1, CCDS46996.1, CCDS54704.1	4p16.3	2013-02-27	2007-01-19	2007-01-19	ENSG00000178222	ENSG00000178222		"""RING-type (C3HC4) zinc fingers"""	27729	protein-coding gene	gene with protein product		612041	"""hypothetical protein LOC285498"""	LOC285498		23396135	Standard	NM_001131034		Approved	FLJ38841	uc003gcj.3	Q495C1	OTTHUMG00000118997	ENST00000433731.2:c.247-2701->GGCTGGCTCCAGCCTGGGCAG	4.37:g.1087327_1087328insCTGCCCAGGCTGGAGCCAGCC		Somatic	NA	NA	NA		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	C9J8N0|Q495C0|Q86W82|Q8IY99|Q8N8U7	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfscan_Znf_RING	p.S241in_frame_insWLAPAWAA	ENST00000433731.2	37	c.722_721	CCDS46996.1	4																																																																																			-	NULL		0.619	RNF212-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RNF212	protein_coding	OTTHUMT00000359124.2	-	NM_194439			1087328	-1	no_errors	ENST00000333673	ensembl	human	known	74_37	in_frame_ins	INS	0.085:0.000	CTGCCCAGGCTGGAGCCAGCC
NSUN6	221078	genome.wustl.edu	37	10	18874941	18874941	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr10:18874941T>A	ENST00000377304.4	-	8	1277	c.859A>T	c.(859-861)Atc>Ttc	p.I287F		NM_182543.2	NP_872349.1	Q8TEA1	NSUN6_HUMAN	NOP2/Sun domain family, member 6	287							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15						AATGCCCTGATGGAATTCAGC	0.343																																																	0								ENSG00000241058						98.0	93.0	95.0					10																	18874941		2203	4300	6503	NSUN6	SO:0001583	missense	0			-	HGNC	BC035778	CCDS7130.1	10p13	2014-06-23	2009-11-23	2004-08-26	ENSG00000241058	ENSG00000241058		"""NOP2/Sun domain containing"""	23529	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family 6"", ""NOL1/NOP2/Sun domain family, member 6"", ""ARL5B antisense RNA 1"""	NOPD1, ARL5B-AS1			Standard	XM_005252394		Approved	FLJ23743	uc010qcp.1	Q8TEA1	OTTHUMG00000017767	ENST00000377304.4:c.859A>T	10.37:g.18874941T>A	ENSP00000366519:p.Ile287Phe	Somatic	0	42	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	45	10.00	B0YJ54	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,pfscan_PUA,prints_RCMT	p.I287F	ENST00000377304.4	37	c.859	CCDS7130.1	10	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430243	0.62844	.	.	ENSG00000241058	ENST00000377304	T	0.25749	1.78	4.16	4.16	0.48862	Bacterial Fmu (Sun)/eukaryotic nucleolar NOL1/Nop2p (1);	0.000000	0.85682	D	0.000000	T	0.53158	0.1779	M	0.85462	2.755	0.80722	D	1	D	0.63880	0.993	D	0.71184	0.972	T	0.62011	-0.6944	10	0.87932	D	0	.	13.1534	0.59503	0.0:0.0:0.0:1.0	.	287	Q8TEA1	NSUN6_HUMAN	F	287	ENSP00000366519:I287F	ENSP00000366519:I287F	I	-	1	0	NSUN6	18914947	1.000000	0.71417	0.901000	0.35422	0.612000	0.37316	4.332000	0.59279	1.619000	0.50296	0.260000	0.18958	ATC	-	pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom		0.343	NSUN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN6	protein_coding	OTTHUMT00000047083.1	T	NM_182543	-		18874941	-1	no_errors	ENST00000377304	ensembl	human	known	74_37	missense	SNP	1.000	A
C1orf61	10485	genome.wustl.edu	37	1	156377337	156377337	+	Intron	SNP	C	C	T	rs531242718		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:156377337C>T	ENST00000368243.1	-	5	422				C1orf61_ENST00000488498.2_5'UTR	NM_006365.1	NP_006356.1	Q13536	CROC4_HUMAN	chromosome 1 open reading frame 61							nucleus (GO:0005634)				large_intestine(2)|lung(2)|skin(1)	5	Hepatocellular(266;0.158)					GTTGTGGGGGCGGTGCTGGGA	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		16150	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000125462																																			C1orf61	SO:0001627	intron_variant	0			-	HGNC		CCDS1142.1	1q22	2014-03-17			ENSG00000125462	ENSG00000125462			30780	protein-coding gene	gene with protein product	"""contingent replication of cDNA-4"", ""transcriptional activator of the c fos promoter"""					10995546, 23012322	Standard	XM_005244832		Approved	CROC4	uc001fou.1	Q13536	OTTHUMG00000031022	ENST00000368243.1:c.305+296G>A	1.37:g.156377337C>T		Somatic	0	43	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	44	18.52	B1ALL5|B1ALL8	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000368243.1	37	NULL	CCDS1142.1	1																																																																																			-	-		0.592	C1orf61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf61	protein_coding	OTTHUMT00000075988.1	C	NM_006365	-		156377337	-1	no_errors	ENST00000488498	ensembl	human	known	74_37	rna	SNP	0.946	T
RASAL2	9462	genome.wustl.edu	37	1	178427542	178427542	+	Missense_Mutation	SNP	G	G	A	rs368617203		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:178427542G>A	ENST00000462775.1	+	12	2817	c.2692G>A	c.(2692-2694)Ggg>Agg	p.G898R	RASAL2_ENST00000367649.3_Missense_Mutation_p.G1039R|RASAL2_ENST00000448150.3_Missense_Mutation_p.G1028R	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	898					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)	p.G1039R(1)|p.G1028R(1)		biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						ACGTAGCACCGGGAGCATGTC	0.627													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17455	0.0		0.0	False		,,,				2504	0.0																2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(2)						ENSG00000075391	G	ARG/GLY,ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	55.0	56.0	55.0		2692,3115	5.5	1.0	1		55	0,8600		0,0,4300	no	missense,missense	RASAL2	NM_004841.3,NM_170692.2	125,125	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	898/1140,1039/1281	178427542	1,13005	2203	4300	6503	RASAL2	SO:0001583	missense	0			-	HGNC	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.2692G>A	1.37:g.178427542G>A	ENSP00000420558:p.Gly898Arg	Somatic	0	59	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.25	F8W755|O95174|Q2TB22|Q5TFU9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.G1039R	ENST00000462775.1	37	c.3115	CCDS1322.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.03|19.03	3.747873|3.747873	0.69533|0.69533	2.27E-4|2.27E-4	0.0|0.0	ENSG00000075391|ENSG00000075391	ENST00000448150;ENST00000367649;ENST00000462775|ENST00000433130	T;T;T|.	0.15487|.	2.42;2.42;2.42|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.257336|.	0.37530|.	N|.	0.002042|.	T|T	0.70710|0.70710	0.3255|0.3255	L|L	0.50333|0.50333	1.59|1.59	0.47621|0.47621	D|D	0.99947|0.99947	P;D;P|.	0.60160|.	0.952;0.987;0.862|.	B;P;B|.	0.53518|.	0.363;0.728;0.2|.	T|T	0.66897|0.66897	-0.5807|-0.5807	10|5	0.20046|.	T|.	0.44|.	.|.	19.321|19.321	0.94240|0.94240	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1028;898;1039|.	B1AKC7;Q9UJF2;F8W755|.	.;NGAP_HUMAN;.|.	R|Q	1028;1039;898|448	ENSP00000407768:G1028R;ENSP00000356621:G1039R;ENSP00000420558:G898R|.	ENSP00000356621:G1039R|.	G|R	+|+	1|2	0|0	RASAL2|RASAL2	176694165|176694165	1.000000|1.000000	0.71417|0.71417	0.958000|0.958000	0.39756|0.39756	0.965000|0.965000	0.64279|0.64279	3.270000|3.270000	0.51600|0.51600	2.548000|2.548000	0.85928|0.85928	0.591000|0.591000	0.81541|0.81541	GGG|CGG	-	pfam_DUF3498		0.627	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL2	protein_coding	OTTHUMT00000084758.3	G	NM_170692	-		178427542	+1	no_errors	ENST00000367649	ensembl	human	known	74_37	missense	SNP	0.994	A
LRRK1	79705	genome.wustl.edu	37	15	101605774	101605774	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr15:101605774C>T	ENST00000388948.3	+	32	5491	c.5132C>T	c.(5131-5133)cCg>cTg	p.P1711L	LRRK1_ENST00000284395.5_Missense_Mutation_p.P1708L|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGCAATGGGCCGGGCCTCCTT	0.612																																																	0								ENSG00000154237						97.0	109.0	105.0					15																	101605774		2047	4192	6239	LRRK1	SO:0001583	missense	0			-	HGNC	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5132C>T	15.37:g.101605774C>T	ENSP00000373600:p.Pro1711Leu	Somatic	0	29	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.P1711L	ENST00000388948.3	37	c.5132	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	C	32	5.175740	0.94807	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.70164	-0.46;-0.46	5.7	5.7	0.88788	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.81735	0.4885	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.81867	-0.0735	10	0.59425	D	0.04	.	19.8314	0.96638	0.0:1.0:0.0:0.0	.	1711	Q38SD2	LRRK1_HUMAN	L	1711;1708;402;265	ENSP00000373600:P1711L;ENSP00000284395:P1708L	ENSP00000284395:P1708L	P	+	2	0	LRRK1	99423297	1.000000	0.71417	0.962000	0.40283	0.963000	0.63663	7.665000	0.83852	2.675000	0.91044	0.655000	0.94253	CCG	-	superfamily_WD40_repeat_dom		0.612	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	protein_coding	OTTHUMT00000384567.2	C	NM_024652	-		101605774	+1	no_errors	ENST00000388948	ensembl	human	known	74_37	missense	SNP	1.000	T
QTRTD1	79691	genome.wustl.edu	37	3	113804664	113804664	+	Silent	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr3:113804664C>T	ENST00000493014.1	+	6	911	c.843C>T	c.(841-843)taC>taT	p.Y281Y	QTRTD1_ENST00000281273.4_Silent_p.Y387Y|QTRTD1_ENST00000479882.1_Silent_p.Y264Y|QTRTD1_ENST00000485050.1_Silent_p.Y399Y	NM_001256836.1	NP_001243765.1			queuine tRNA-ribosyltransferase domain containing 1											central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						TTGAACACTACTTTGGGTTTT	0.463																																																	0								ENSG00000151576						183.0	154.0	164.0					3																	113804664		2203	4300	6503	QTRTD1	SO:0001819	synonymous_variant	0			-	HGNC	AK023022	CCDS33828.1, CCDS58846.1, CCDS58845.1, CCDS58844.1	3q13.31	2010-11-16			ENSG00000151576	ENSG00000151576			25771	protein-coding gene	gene with protein product						12477932	Standard	NM_024638		Approved	FLJ12960	uc003eaz.4	Q9H974	OTTHUMG00000159336	ENST00000493014.1:c.843C>T	3.37:g.113804664C>T		Somatic	0	124	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	115	10.16		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_tRNA_ribo_trans-like	p.Y387	ENST00000493014.1	37	c.1161	CCDS58845.1	3																																																																																			-	pfam_tRNA_ribo_trans-like,superfamily_tRNA_ribo_trans-like,tigrfam_tRNA_ribo_trans-like		0.463	QTRTD1-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	QTRTD1	protein_coding	OTTHUMT00000354711.1	C	NM_024638	-		113804664	+1	no_errors	ENST00000281273	ensembl	human	known	74_37	silent	SNP	0.995	T
CACNA1F	778	genome.wustl.edu	37	X	49074970	49074970	+	Nonsense_Mutation	SNP	G	G	A	rs122456134		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chrX:49074970G>A	ENST00000376265.2	-	24	2966	c.2905C>T	c.(2905-2907)Cga>Tga	p.R969*	CACNA1F_ENST00000376251.1_Nonsense_Mutation_p.R904*|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.R958*	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	969					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGAGTACTCGCAGAATCTTC	0.647																																																	0			GRCh37	CM980292	CACNA1F	M	rs122456134	ENSG00000102001						39.0	35.0	36.0					X																	49074970		2197	4294	6491	CACNA1F	SO:0001587	stop_gained	0			-	HGNC	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.2905C>T	X.37:g.49074970G>A	ENSP00000365441:p.Arg969*	Somatic	0	43	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	21	52.27	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R969*	ENST00000376265.2	37	c.2905	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	.	41	8.741905	0.98935	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	.	.	.	5.63	4.73	0.59995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4577	0.61208	0.0:0.0:0.8219:0.1781	.	.	.	.	X	904;958;969	.	ENSP00000321618:R958X	R	-	1	2	CACNA1F	48961914	0.990000	0.36364	0.992000	0.48379	0.991000	0.79684	2.094000	0.41719	1.067000	0.40740	0.529000	0.55759	CGA	-	pfam_Ion_trans_dom		0.647	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	protein_coding	OTTHUMT00000358157.1	G	NM_005183	rs122456134		49074970	-1	no_errors	ENST00000376265	ensembl	human	known	74_37	nonsense	SNP	0.989	A
HPN	3249	genome.wustl.edu	37	19	35550828	35550828	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:35550828C>T	ENST00000262626.2	+	6	1166	c.341C>T	c.(340-342)aCg>aTg	p.T114M	HPN_ENST00000600675.1_3'UTR|HPN-AS1_ENST00000392227.2_RNA|HPN_ENST00000392226.1_Missense_Mutation_p.T114M|HPN_ENST00000597419.1_Intron	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	114	SRCR.				basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	GCCAATGGCACGTCGGGCTTC	0.711																																																	0								ENSG00000105707						17.0	16.0	16.0					19																	35550828		2194	4293	6487	HPN	SO:0001583	missense	0			-	HGNC		CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	ENST00000262626.2:c.341C>T	19.37:g.35550828C>T	ENSP00000262626:p.Thr114Met	Somatic	0	42	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	30	28.57	B2RDS4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S1,pfam_Hepsin-SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.T114M	ENST00000262626.2	37	c.341	CCDS32993.1	19	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527150	0.64860	.	.	ENSG00000105707	ENST00000262626;ENST00000392226;ENST00000541345	T;T	0.61274	0.12;0.12	5.17	5.17	0.71159	Speract/scavenger receptor-related (1);Hepsin, SRCR (2);	0.191635	0.45606	D	0.000343	T	0.64907	0.2641	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.70016	0.958;0.967	T	0.64202	-0.6463	10	0.39692	T	0.17	.	16.1567	0.81673	0.0:1.0:0.0:0.0	.	86;114	B7Z1L4;P05981	.;HEPS_HUMAN	M	114;114;86	ENSP00000262626:T114M;ENSP00000376060:T114M	ENSP00000262626:T114M	T	+	2	0	HPN	40242668	0.957000	0.32711	0.997000	0.53966	0.486000	0.33341	2.118000	0.41949	2.420000	0.82092	0.505000	0.49811	ACG	-	pfam_Hepsin-SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel		0.711	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPN	protein_coding	OTTHUMT00000461573.1	C	NM_002151	-		35550828	+1	no_errors	ENST00000262626	ensembl	human	known	74_37	missense	SNP	0.995	T
ASPG	374569	genome.wustl.edu	37	14	104565230	104565230	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr14:104565230G>A	ENST00000551177.1	+	6	646	c.554G>A	c.(553-555)cGg>cAg	p.R185Q	ASPG_ENST00000546892.2_Missense_Mutation_p.R185Q|ASPG_ENST00000455920.2_Missense_Mutation_p.R185Q	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase	185	Asparaginase.|Asparaginase/glutaminase. {ECO:0000255|PROSITE-ProRule:PRU01068}.				asparagine metabolic process (GO:0006528)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)		1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|asparaginase activity (GO:0004067)|lysophospholipase activity (GO:0004622)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						CGGGGCAACCGGGCAACCAAG	0.622																																																	0								ENSG00000166183						51.0	60.0	57.0					14																	104565230		2018	4175	6193	ASPG	SO:0001583	missense	0			-	HGNC		CCDS45170.1, CCDS45170.2	14q32.33	2014-03-14	2014-03-14	2008-11-06	ENSG00000166183	ENSG00000166183	3.1.1.5, 3.5.1.1	"""Ankyrin repeat domain containing"""	20123	protein-coding gene	gene with protein product	"""60-kDa-lysophospholipase"""		"""chromosome 14 open reading frame 76"", ""asparaginase homolog (S. cerevisiae)"""	C14orf76			Standard	NM_001080464		Approved		uc001yoq.2	Q86U10		ENST00000551177.1:c.554G>A	14.37:g.104565230G>A	ENSP00000450040:p.Arg185Gln	Somatic	0	105	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	115	8.73	B9EGQ2|Q8IV80	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Asparaginase/glutaminase,pfam_Ankyrin_rpt,superfamily_Asparaginase/glutaminase,superfamily_Ankyrin_rpt-contain_dom,smart_Asparaginase/glutaminase,smart_Ankyrin_rpt,prints_Asparaginase/glutaminase,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_AsnASEI	p.R185Q	ENST00000551177.1	37	c.554	CCDS45170.2	14	.	.	.	.	.	.	.	.	.	.	G	20.6	4.020256	0.75275	.	.	ENSG00000166183	ENST00000551177;ENST00000299234;ENST00000546892;ENST00000455920	T;T;T	0.27402	1.67;1.67;1.67	3.97	3.97	0.46021	.	0.000000	0.85682	U	0.000000	T	0.60327	0.2260	M	0.87328	2.875	0.49051	D	0.999742	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;1.0	T	0.70114	-0.4961	10	0.87932	D	0	-17.9254	14.8127	0.70008	0.0:0.0:1.0:0.0	.	185;185;185;213	G3V1Y8;Q86U10;Q86U10-3;E5RFC2	.;LPP60_HUMAN;.;.	Q	185;213;185;185	ENSP00000450040:R185Q;ENSP00000448911:R185Q;ENSP00000389003:R185Q	ENSP00000299234:R213Q	R	+	2	0	ASPG	103634983	1.000000	0.71417	0.236000	0.24074	0.619000	0.37552	5.429000	0.66495	1.752000	0.51891	0.491000	0.48974	CGG	-	pfam_Asparaginase/glutaminase,superfamily_Asparaginase/glutaminase,smart_Asparaginase/glutaminase,tigrfam_AsnASEI		0.622	ASPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASPG	protein_coding	OTTHUMT00000407005.1	G	NM_001080464	-		104565230	+1	no_errors	ENST00000455920	ensembl	human	known	74_37	missense	SNP	0.994	A
CIT	11113	genome.wustl.edu	37	12	120172048	120172048	+	Missense_Mutation	SNP	C	C	T	rs200184645		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:120172048C>T	ENST00000261833.7	-	25	3197	c.3145G>A	c.(3145-3147)Gtc>Atc	p.V1049I	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.V1091I	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1049					cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCACCCAGGACGCTCCTCCAG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		18854	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000122966						125.0	103.0	110.0					12																	120172048		2203	4300	6503	CIT	SO:0001583	missense	0			GMAF=0.0005	HGNC	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3145G>A	12.37:g.120172048C>T	ENSP00000261833:p.Val1049Ile	Somatic	0	86	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	77	12.50	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.V1049I	ENST00000261833.7	37	c.3145	CCDS9192.1	12	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.85	1.761781	0.31228	.	.	ENSG00000122966	ENST00000392521;ENST00000261833;ENST00000546026	T;T;T	0.63913	-0.04;-0.07;1.82	5.35	5.35	0.76521	.	0.253235	0.33457	N	0.004887	T	0.38026	0.1025	N	0.08118	0	0.31643	N	0.647827	P;B;B	0.35551	0.509;0.288;0.216	B;B;B	0.24269	0.052;0.036;0.039	T	0.50808	-0.8784	10	0.38643	T	0.18	.	13.9743	0.64262	0.1517:0.8483:0.0:0.0	.	1091;1049;582	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	I	1091;1049;91	ENSP00000376306:V1091I;ENSP00000261833:V1049I;ENSP00000446105:V91I	ENSP00000261833:V1049I	V	-	1	0	CIT	118656431	0.937000	0.31787	0.989000	0.46669	0.340000	0.28889	1.988000	0.40697	2.508000	0.84585	0.467000	0.42956	GTC	-	pirsf_Citron_Rho-interacting_kinase		0.552	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	protein_coding	OTTHUMT00000259410.4	C	NM_007174	rs200184645		120172048	-1	no_errors	ENST00000261833	ensembl	human	known	74_37	missense	SNP	0.981	T
SLC7A9	11136	genome.wustl.edu	37	19	33355561	33355561	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:33355561G>A	ENST00000023064.4	-	3	400	c.209C>T	c.(208-210)gCg>gTg	p.A70V	RN7SKP22_ENST00000365097.1_RNA|SLC7A9_ENST00000590341.1_Missense_Mutation_p.A70V|SLC7A9_ENST00000587772.1_Missense_Mutation_p.A70V	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	70			A -> V (in CSNU; mild loss of amino acid transport activity). {ECO:0000269|PubMed:11157794}.		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)	CCCGCAAGCCGCCCATATGAT	0.622																																					GBM(181;1335 2108 9644 44178 46689)												0			GRCh37	CM010443	SLC7A9	M		ENSG00000021488						93.0	90.0	91.0					19																	33355561		2203	4300	6503	SLC7A9	SO:0001583	missense	0			-	HGNC	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.209C>T	19.37:g.33355561G>A	ENSP00000023064:p.Ala70Val	Somatic	0	110	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	84	15.15	B2R9A6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.A70V	ENST00000023064.4	37	c.209	CCDS12425.1	19	.	.	.	.	.	.	.	.	.	.	G	11.50	1.657393	0.29425	.	.	ENSG00000021488	ENST00000023064	D	0.88896	-2.44	5.13	4.09	0.47781	Amino acid permease domain (1);	0.242178	0.48286	N	0.000192	T	0.80347	0.4606	N	0.20328	0.56	0.53005	D	0.999966	B	0.18461	0.028	B	0.23275	0.045	T	0.73091	-0.4092	10	0.14656	T	0.56	.	14.0684	0.64847	0.0735:0.0:0.9265:0.0	.	70	P82251	BAT1_HUMAN	V	70	ENSP00000023064:A70V	ENSP00000023064:A70V	A	-	2	0	SLC7A9	38047401	1.000000	0.71417	0.779000	0.31741	0.137000	0.21094	5.016000	0.64041	1.306000	0.44926	0.462000	0.41574	GCG	-	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1		0.622	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	protein_coding	OTTHUMT00000450585.1	G		-		33355561	-1	no_errors	ENST00000023064	ensembl	human	known	74_37	missense	SNP	0.993	A
CACNG6	59285	genome.wustl.edu	37	19	54515432	54515432	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:54515432C>T	ENST00000252729.2	+	4	1362	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	CACNG6_ENST00000352529.1_Missense_Mutation_p.R187W|CACNG6_ENST00000346968.2_Missense_Mutation_p.R212W	NM_145814.1	NP_665813.1	Q9BXT2	CCG6_HUMAN	calcium channel, voltage-dependent, gamma subunit 6	258					calcium ion transport (GO:0006816)	voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		GCGGGGGCACCGGGCCACCTA	0.632																																																	0								ENSG00000130433						47.0	52.0	50.0					19																	54515432		2184	4263	6447	CACNG6	SO:0001583	missense	0			-	HGNC	AF288386	CCDS12870.1, CCDS12871.1	19q13.4	2008-05-02			ENSG00000130433	ENSG00000130433		"""Calcium channel subunits"""	13625	protein-coding gene	gene with protein product		606898				11170751	Standard	NM_145814		Approved		uc002qct.3	Q9BXT2	OTTHUMG00000064907	ENST00000252729.2:c.772C>T	19.37:g.54515432C>T	ENSP00000252729:p.Arg258Trp	Somatic	0	44	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	prints_VDCC_g6su,prints_VDCC_gsu,prints_Claudin	p.R258W	ENST00000252729.2	37	c.772	CCDS12870.1	19	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275875	0.40294	.	.	ENSG00000130433	ENST00000252729;ENST00000352529;ENST00000346968	T;T;T	0.33654	1.41;1.4;1.4	3.89	-7.79	0.01218	.	1.171100	0.06914	N	0.808131	T	0.17959	0.0431	N	0.22421	0.69	0.09310	N	1	P;P;D	0.56287	0.831;0.95;0.975	B;B;B	0.40565	0.219;0.261;0.333	T	0.28681	-1.0036	10	0.66056	D	0.02	-15.2504	4.0866	0.09950	0.2444:0.3259:0.3471:0.0826	.	187;212;258	A6NP74;A6NFR2;Q9BXT2	.;.;CCG6_HUMAN	W	258;187;212	ENSP00000252729:R258W;ENSP00000319135:R187W;ENSP00000319097:R212W	ENSP00000252729:R258W	R	+	1	2	CACNG6	59207244	0.000000	0.05858	0.000000	0.03702	0.125000	0.20455	-2.454000	0.01004	-2.253000	0.00698	-0.155000	0.13514	CGG	-	NULL		0.632	CACNG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG6	protein_coding	OTTHUMT00000139359.1	C		-		54515432	+1	no_errors	ENST00000252729	ensembl	human	known	74_37	missense	SNP	0.000	T
SPEF2	79925	genome.wustl.edu	37	5	35793303	35793303	+	Missense_Mutation	SNP	G	G	A	rs200747497		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr5:35793303G>A	ENST00000356031.3	+	32	4751	c.4597G>A	c.(4597-4599)Gtg>Atg	p.V1533M	SPEF2_ENST00000440995.2_Missense_Mutation_p.V1528M|SPEF2_ENST00000303129.4_Missense_Mutation_p.V330M|CTD-2113L7.1_ENST00000510433.1_RNA	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	1533					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTCCGAGTTCGTGGACTGGCG	0.423																																																	0								ENSG00000152582	G	MET/VAL	0,3778		0,0,1889	100.0	94.0	96.0		4597	5.9	1.0	5		96	1,8219		0,1,4109	no	missense	SPEF2	NM_024867.3	21	0,1,5998	AA,AG,GG		0.0122,0.0,0.0083	probably-damaging	1533/1823	35793303	1,11997	1889	4110	5999	SPEF2	SO:0001583	missense	0			-	HGNC	AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.4597G>A	5.37:g.35793303G>A	ENSP00000348314:p.Val1533Met	Somatic	0	23	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	42	25.00	Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain	p.V1533M	ENST00000356031.3	37	c.4597	CCDS43309.1	5	.	.	.	.	.	.	.	.	.	.	G	16.64	3.179248	0.57800	0.0	1.22E-4	ENSG00000152582	ENST00000356031;ENST00000440995;ENST00000303129	T;T;T	0.70045	-0.45;-0.45;-0.16	5.87	5.87	0.94306	.	0.166677	0.42172	D	0.000758	T	0.78830	0.4345	L	0.56769	1.78	0.32794	N	0.500775	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.988;0.998;0.992	D	0.83427	0.0036	10	0.72032	D	0.01	.	14.3787	0.66897	0.0724:0.0:0.9276:0.0	.	330;1528;1533	Q9C093-4;Q9C093-2;Q9C093	.;.;SPEF2_HUMAN	M	1533;1528;330	ENSP00000348314:V1533M;ENSP00000412125:V1528M;ENSP00000303843:V330M	ENSP00000303843:V330M	V	+	1	0	SPEF2	35829060	0.998000	0.40836	0.989000	0.46669	0.353000	0.29299	2.966000	0.49208	2.775000	0.95449	0.650000	0.86243	GTG	-	NULL		0.423	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEF2	protein_coding	OTTHUMT00000367199.1	G	NM_144722	rs200747497		35793303	+1	no_errors	ENST00000356031	ensembl	human	known	74_37	missense	SNP	0.988	A
GUF1	60558	genome.wustl.edu	37	4	44700615	44700615	+	Frame_Shift_Del	DEL	A	A	-	rs545503516		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr4:44700615delA	ENST00000281543.5	+	17	2121	c.1927delA	c.(1927-1929)aaafs	p.K645fs	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2			GUF1 GTPase homolog (S. cerevisiae)											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AGCAGAAGGGAAAAAAAAGCT	0.328																																																	0								ENSG00000151806						65.0	72.0	69.0					4																	44700615		2203	4300	6503	GUF1	SO:0001589	frameshift_variant	0				HGNC		CCDS3468.1	4p13	2006-02-16			ENSG00000151806	ENSG00000151806			25799	protein-coding gene	gene with protein product						8553703	Standard	NM_021927		Approved	FLJ13220	uc003gww.4	Q8N442	OTTHUMG00000128608	ENST00000281543.5:c.1927delA	4.37:g.44700615delA	ENSP00000281543:p.Lys645fs	Somatic	0	20	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	22	8.33		Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom	p.K645fs	ENST00000281543.5	37	c.1927	CCDS3468.1	4																																																																																			-	pfam_LepA_GTP-bd_C,tigrfam_EF-4		0.328	GUF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUF1	protein_coding	OTTHUMT00000250469.3	A	NM_021927			44700615	+1	no_errors	ENST00000281543	ensembl	human	known	74_37	frame_shift_del	DEL	0.999	-
ERAP2	64167	genome.wustl.edu	37	5	96215697	96215697	+	Missense_Mutation	SNP	A	A	G	rs376750913		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr5:96215697A>G	ENST00000437043.3	+	2	1019	c.308A>G	c.(307-309)aAt>aGt	p.N103S	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000379904.4_Missense_Mutation_p.N103S|ERAP2_ENST00000510309.1_Missense_Mutation_p.N103S	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	103					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|regulation of blood pressure (GO:0008217)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTGGTCAGCAATGCTACCCAG	0.448																																																	0								ENSG00000164308						81.0	70.0	74.0					5																	96215697		2203	4300	6503	ERAP2	SO:0001583	missense	0			-	HGNC	AF191545	CCDS4086.1	5q15	2007-11-21			ENSG00000164308	ENSG00000164308			29499	protein-coding gene	gene with protein product	"""leukocyte-derived arginine aminopeptidase"""	609497				12799365, 15908954	Standard	NM_022350		Approved	L-RAP, LRAP	uc003kmt.3	Q6P179	OTTHUMG00000128718	ENST00000437043.3:c.308A>G	5.37:g.96215697A>G	ENSP00000400376:p.Asn103Ser	Somatic	0	52	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	Q7Z5K1|Q8TD32|Q8WVJ4|Q9HBX2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.N103S	ENST00000437043.3	37	c.308	CCDS4086.1	5	.	.	.	.	.	.	.	.	.	.	A	10.00	1.233337	0.22626	.	.	ENSG00000164308	ENST00000437043;ENST00000510373;ENST00000513084;ENST00000379904;ENST00000510309	T;T;T;T;T	0.04049	4.23;4.23;4.23;3.72;4.23	4.58	2.08	0.27032	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.625736	0.16087	N	0.230222	T	0.03220	0.0094	N	0.16656	0.425	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.15052	0.007;0.012	T	0.42344	-0.9457	10	0.42905	T	0.14	.	6.636	0.22883	0.7606:0.155:0.0844:0.0	.	103;103	Q6P179-3;Q6P179	.;ERAP2_HUMAN	S	103	ENSP00000400376:N103S;ENSP00000421175:N103S;ENSP00000421849:N103S;ENSP00000369235:N103S;ENSP00000425758:N103S	ENSP00000369235:N103S	N	+	2	0	ERAP2	96241453	0.153000	0.22777	0.252000	0.24328	0.525000	0.34531	4.217000	0.58547	0.226000	0.20979	-0.472000	0.04984	AAT	-	pfam_Peptidase_M1_N		0.448	ERAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAP2	protein_coding	OTTHUMT00000250623.2	A	NM_022350	-		96215697	+1	no_errors	ENST00000437043	ensembl	human	known	74_37	missense	SNP	0.102	G
FCHO1	23149	genome.wustl.edu	37	19	17881351	17881351	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:17881351C>T	ENST00000596536.1	+	8	737	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	FCHO1_ENST00000600676.1_Missense_Mutation_p.R152W|FCHO1_ENST00000597512.1_Missense_Mutation_p.R159W|FCHO1_ENST00000252771.7_Missense_Mutation_p.R152W|FCHO1_ENST00000596951.1_Missense_Mutation_p.R152W|FCHO1_ENST00000389133.4_Missense_Mutation_p.R152W|FCHO1_ENST00000539407.1_Missense_Mutation_p.R152W|FCHO1_ENST00000595033.1_Missense_Mutation_p.R102W|FCHO1_ENST00000594202.1_Missense_Mutation_p.R152W	NM_015122.2	NP_055937.1	O14526	FCHO1_HUMAN	FCH domain only 1	152	Mediates membrane-binding.				clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	AP-2 adaptor complex binding (GO:0035612)			NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GGAGCGGCTGCGGAGGGAGAG	0.632																																																	0								ENSG00000130475						38.0	39.0	39.0					19																	17881351		2203	4299	6502	FCHO1	SO:0001583	missense	0			-	HGNC	AB006628	CCDS32955.1, CCDS59365.1, CCDS59366.1	19p13.12	2008-02-05				ENSG00000130475			29002	protein-coding gene	gene with protein product		613437				12477932	Standard	NM_001161357		Approved	KIAA0290	uc002nhg.3	O14526		ENST00000596536.1:c.454C>T	19.37:g.17881351C>T	ENSP00000470731:p.Arg152Trp	Somatic	0	49	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	43	10.42	A6NHE6|A8K5U5|B4E120|Q05C93|Q8IW22	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,superfamily_Clathrin_mu_C,smart_FCH_dom,pfscan_FCH_dom	p.R152W	ENST00000596536.1	37	c.454	CCDS32955.1	19	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841493	0.71488	.	.	ENSG00000130475	ENST00000252771;ENST00000389133;ENST00000539407	T;T;T	0.50001	0.76;0.76;0.76	4.56	2.19	0.27852	.	0.056072	0.64402	D	0.000004	T	0.63581	0.2523	M	0.73962	2.25	0.42653	D	0.99345	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.66093	-0.6009	10	0.87932	D	0	-24.2303	8.6636	0.34108	0.4459:0.5541:0.0:0.0	.	102;152;152	B4E120;O14526;O14526-2	.;FCHO1_HUMAN;.	W	152	ENSP00000252771:R152W;ENSP00000373785:R152W;ENSP00000437978:R152W	ENSP00000252771:R152W	R	+	1	2	FCHO1	17742351	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	1.412000	0.34714	1.076000	0.40961	0.491000	0.48974	CGG	-	NULL		0.632	FCHO1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FCHO1	protein_coding	OTTHUMT00000466946.2	C	NM_015122	-		17881351	+1	no_errors	ENST00000252771	ensembl	human	known	74_37	missense	SNP	1.000	T
SV2B	9899	genome.wustl.edu	37	15	91827281	91827281	+	Missense_Mutation	SNP	G	G	A	rs555926912		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr15:91827281G>A	ENST00000394232.1	+	11	2008	c.1538G>A	c.(1537-1539)cGg>cAg	p.R513Q	SV2B_ENST00000330276.4_Missense_Mutation_p.R513Q|SV2B_ENST00000545111.2_Missense_Mutation_p.R362Q	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	513					neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ATCAACTGTCGGTTTATCAAC	0.527																																																	0								ENSG00000185518						182.0	174.0	177.0					15																	91827281		2198	4298	6496	SV2B	SO:0001583	missense	0			-	HGNC	AB018278	CCDS10370.1, CCDS53972.1	15q26.1	2005-01-10			ENSG00000185518	ENSG00000185518			16874	protein-coding gene	gene with protein product		185861				9872452, 7681585	Standard	NM_014848		Approved	KIAA0735, HsT19680	uc002bqv.3	Q7L1I2	OTTHUMG00000149833	ENST00000394232.1:c.1538G>A	15.37:g.91827281G>A	ENSP00000377779:p.Arg513Gln	Somatic	0	41	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	45	11.54	B4DH30|C6G489|O94840|Q6IAR8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2	p.R513Q	ENST00000394232.1	37	c.1538	CCDS10370.1	15	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578524	0.46006	.	.	ENSG00000185518	ENST00000545111;ENST00000394232;ENST00000330276	T;T;T	0.39787	1.06;1.06;1.06	5.61	3.71	0.42584	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.406771	0.25881	N	0.027700	T	0.24431	0.0592	N	0.21448	0.665	0.34492	D	0.705131	B	0.21821	0.061	B	0.19391	0.025	T	0.23226	-1.0194	10	0.13108	T	0.6	-9.1817	7.7407	0.28839	0.2641:0.0:0.7358:0.0	.	513	Q7L1I2	SV2B_HUMAN	Q	362;513;513	ENSP00000443243:R362Q;ENSP00000377779:R513Q;ENSP00000332818:R513Q	ENSP00000332818:R513Q	R	+	2	0	SV2B	89628285	0.015000	0.18098	0.972000	0.41901	0.997000	0.91878	0.371000	0.20450	0.714000	0.32081	0.586000	0.80456	CGG	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2		0.527	SV2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SV2B	protein_coding	OTTHUMT00000313494.3	G	NM_014848	-		91827281	+1	no_errors	ENST00000330276	ensembl	human	known	74_37	missense	SNP	0.897	A
ZBTB8B	728116	genome.wustl.edu	37	1	32950780	32950780	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:32950780C>T	ENST00000609129.1	+	4	1327	c.1249C>T	c.(1249-1251)Cgc>Tgc	p.R417C	RP1-27O5.3_ENST00000480336.1_Missense_Mutation_p.R417C	NM_001145720.1	NP_001139192.1	Q8NAP8	ZBT8B_HUMAN	zinc finger and BTB domain containing 8B	417					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)	1						GGGGCTGCGGCGCTTCGGGCT	0.542																																																	0								ENSG00000254553						54.0	45.0	48.0					1																	32950780		692	1591	2283	RP1-27O5.3	SO:0001583	missense	0			-	Clone_based_vega_gene	AL442095	CCDS44104.1	1p35.1	2013-01-08			ENSG00000215897	ENSG00000273274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	37057	protein-coding gene	gene with protein product							Standard	NM_001145720		Approved	RP1-27O5.1, DKFZp547H154, ZNF916B	uc001bvl.4	Q8NAP8	OTTHUMG00000167087	ENST00000609129.1:c.1249C>T	1.37:g.32950780C>T	ENSP00000476499:p.Arg417Cys	Somatic	0	50	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	63	8.70	Q15DG5|Q5VXR5|Q69YT7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R417C	ENST00000609129.1	37	c.1249	CCDS44104.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.125650	0.94429	.	.	ENSG00000215897	ENST00000415091	T	0.15139	2.45	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.25044	0.0608	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.35025	-0.9805	10	0.87932	D	0	.	18.3603	0.90372	0.0:1.0:0.0:0.0	.	417	Q8NAP8	ZBT8B_HUMAN	C	417	ENSP00000400836:R417C	ENSP00000435749:R417C	R	+	1	0	ZBTB8B	32723367	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.373000	0.66162	2.756000	0.94617	0.655000	0.94253	CGC	-	NULL		0.542	ZBTB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254553	protein_coding	OTTHUMT00000392986.2	C	NM_001145720	-		32950780	+1	no_errors	ENST00000480336	ensembl	human	known	74_37	missense	SNP	1.000	T
SIGLEC12	89858	genome.wustl.edu	37	19	52002731	52002731	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:52002731C>T	ENST00000291707.3	-	3	1103	c.1048G>A	c.(1048-1050)Ggc>Agc	p.G350S	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G232S	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	350	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ATGGTCACGCCGGCCCCAGGC	0.607																																																	0								ENSG00000254521						58.0	51.0	54.0					19																	52002731		2203	4300	6503	SIGLEC12	SO:0001583	missense	0			-	HGNC	AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.1048G>A	19.37:g.52002731C>T	ENSP00000291707:p.Gly350Ser	Somatic	0	60	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	55	8.33	Q8IYH7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.G350S	ENST00000291707.3	37	c.1048	CCDS12833.1	19	.	.	.	.	.	.	.	.	.	.	.	11.84	1.757278	0.31137	.	.	ENSG00000254521	ENST00000291707	T	0.03413	3.94	2.22	-0.00567	0.14016	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.128570	0.06924	N	0.809949	T	0.07279	0.0184	L	0.42686	1.345	0.09310	N	1	D;P	0.60160	0.987;0.824	P;B	0.58820	0.846;0.373	T	0.40850	-0.9541	10	0.19590	T	0.45	.	3.8316	0.08876	0.0:0.5744:0.0:0.4256	.	350;232	Q96PQ1;Q96PQ1-2	SIG12_HUMAN;.	S	350	ENSP00000291707:G350S	ENSP00000291707:G350S	G	-	1	0	SIGLEC12	56694543	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-1.825000	0.01707	0.271000	0.22005	0.503000	0.49774	GGC	-	smart_Ig_sub,pfscan_Ig-like_dom		0.607	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	protein_coding	OTTHUMT00000384641.2	C	NM_053003	-		52002731	-1	no_errors	ENST00000291707	ensembl	human	known	74_37	missense	SNP	0.000	T
TP53	7157	genome.wustl.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T	rs587782664		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr17:7577570C>T	ENST00000269305.4	-	7	900	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	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	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)	AACTGTTACACATGTAGTTGT	0.567		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"""	139	Substitution - Missense(113)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Insertion - In frame(1)	upper_aerodigestive_tract(23)|ovary(22)|lung(18)|breast(18)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(9)|large_intestine(9)|stomach(6)|biliary_tract(5)|bone(5)|oesophagus(4)|urinary_tract(3)|pancreas(2)|thyroid(1)|testis(1)|soft_tissue(1)|liver(1)	GRCh37	CM011014	TP53	M		ENSG00000141510						130.0	102.0	112.0					17																	7577570		2203	4300	6503	TP53	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;	-	HGNC	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.711G>A	17.37:g.7577570C>T	ENSP00000269305:p.Met237Ile	Somatic	0	105	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	57	66	46.34	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	NA	NA	NA	NA	NA	NA	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.M237I	ENST00000269305.4	37	c.711	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343240	0.82022	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.09	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	M	0.86953	2.85	0.54753	D	0.999983	D;D;D;D;D;D	0.89917	1.0;0.975;0.999;1.0;0.998;1.0	D;P;D;D;D;D	0.91635	0.999;0.864;0.999;0.999;0.999;0.998	D	0.97922	1.0315	10	0.72032	D	0.01	-32.6033	10.0519	0.42221	0.0:0.8993:0.0:0.1007	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237I;ENSP00000352610:M237I;ENSP00000269305:M237I;ENSP00000398846:M237I;ENSP00000391127:M237I;ENSP00000391478:M237I;ENSP00000425104:M105I;ENSP00000423862:M144I	ENSP00000269305:M237I	M	-	3	0	TP53	7518295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	1.305000	0.44909	0.462000	0.41574	ATG	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-		7577570	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	SNP	1.000	T
ITPKB	3707	genome.wustl.edu	37	1	226924876	226924884	+	In_Frame_Del	DEL	CTGCCGCTG	CTGCCGCTG	-	rs147889095	byFrequency	TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	CTGCCGCTG	CTGCCGCTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:226924876_226924884delCTGCCGCTG	ENST00000272117.3	-	1	275_283	c.276_284delCAGCGGCAG	c.(274-285)agcagcggcagt>agt	p.92_95SSGS>S	ITPKB_ENST00000429204.1_In_Frame_Del_p.92_95SSGS>S|ITPKB_ENST00000366784.1_In_Frame_Del_p.92_95SSGS>S			P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	92					cell surface receptor signaling pathway (GO:0007166)|inositol phosphate metabolic process (GO:0043647)|MAPK cascade (GO:0000165)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of Ras protein signal transduction (GO:0046579)|positive thymic T cell selection (GO:0045059)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCTCACgctactgccgctgctgccgctgc	0.746														1412	0.281949	0.2428	0.317	5008	,	,		9854	0.2659		0.3141	False		,,,				2504	0.2935				Colon(84;110 1851 5306 33547)												0								ENSG00000143772			530,2426		156,218,1104						0.6	1.0		dbSNP_120	7	1381,4925		379,623,2151	no	coding	ITPKB	NM_002221.3		535,841,3255	A1A1,A1R,RR		21.8998,17.9296,20.6327				1911,7351				ITPKB	SO:0001651	inframe_deletion	0				HGNC	AJ242780	CCDS1555.1	1q42.12	2011-04-28	2011-04-28		ENSG00000143772	ENSG00000143772	2.7.1.127		6179	protein-coding gene	gene with protein product		147522	"""inositol 1,4,5-trisphosphate 3-kinase B"""			1654894, 1330886	Standard	NM_002221		Approved	IP3KB, IP3-3KB	uc010pvo.2	P27987	OTTHUMG00000037582	ENST00000272117.3:c.276_284delCAGCGGCAG	1.37:g.226924885_226924893delCTGCCGCTG	ENSP00000272117:p.Ser92_Gly94del	Somatic	NA	NA	NA		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q5VWL9|Q5VWM0|Q96BZ2|Q96JS1|Q9UH47	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_IPK	p.GSS94in_frame_del	ENST00000272117.3	37	c.284_276	CCDS1555.1	1																																																																																			-	NULL		0.746	ITPKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPKB	protein_coding	OTTHUMT00000091632.1	CTGCCGCTG	NM_002221			226924884	-1	no_errors	ENST00000272117	ensembl	human	known	74_37	in_frame_del	DEL	0.902:0.650:0.630:0.440:0.081:0.083:0.088:0.089:0.091	-
LINC00917	732275	genome.wustl.edu	37	16	86371004	86371004	+	lincRNA	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr16:86371004G>A	ENST00000594203.1	-	0	1499									long intergenic non-protein coding RNA 917																		CTGGCCTCCCGGATCCGCCAG	0.672																																																	0								ENSG00000168367																																			LINC00917			0			-	HGNC			16q24.1	2013-05-24			ENSG00000168367	ENSG00000168367		"""Long non-coding RNAs"""	48607	non-coding RNA	RNA, long non-coding							Standard	NR_024406		Approved				OTTHUMG00000183867		16.37:g.86371004G>A		Somatic	0	48	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	61	19.74		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000594203.1	37	NULL		16	.	.	.	.	.	.	.	.	.	.	G	7.839	0.721517	0.15372	.	.	ENSG00000168367	ENST00000304488	.	.	.	1.09	-0.922	0.10468	.	.	.	.	.	T	0.45236	0.1332	.	.	.	.	.	.	.	.	.	.	.	.	T	0.56360	-0.7992	4	0.87932	D	0	.	6.1122	0.20108	0.0:0.3218:0.6782:0.0	.	.	.	.	L	73	.	ENSP00000304875:P73L	P	-	2	0	AC092327.1	84928505	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-1.140000	0.03210	0.476000	0.27440	0.478000	0.44815	CCG	-	-		0.672	LINC00917-002	KNOWN	basic	lincRNA	LINC00917	lincRNA	OTTHUMT00000467202.1	G		-		86371004	-1	no_errors	ENST00000304488	ensembl	human	known	74_37	rna	SNP	0.001	A
SNRNP40	9410	genome.wustl.edu	37	1	31732678	31732678	+	3'UTR	DEL	A	A	-			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:31732678delA	ENST00000263694.4	-	0	1333				SNRNP40_ENST00000373720.3_3'UTR|SNRNP40_ENST00000489853.1_5'UTR	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)						gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nucleolar ribonucleoprotein complex (GO:0005732)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						aaagaaaaagaaaaaaaaaaa	0.373																																																	0								ENSG00000060688																																			SNRNP40	SO:0001624	3_prime_UTR_variant	0				HGNC	AF090988	CCDS340.1	1p35.2	2013-01-09	2008-10-29	2008-10-29	ENSG00000060688	ENSG00000060688		"""WD repeat domain containing"""	30857	protein-coding gene	gene with protein product		607797	"""WD repeat domain 57 (U5 snRNP specific)"""	WDR57		9774689, 9731529, 10788320	Standard	NM_004814		Approved	PRP8BP, SPF38, PRPF8BP, HPRP8BP	uc009vtt.3	Q96DI7	OTTHUMG00000003790	ENST00000263694.4:c.*241T>-	1.37:g.31732678delA		Somatic	0	35	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	34	15.00	B4DQJ1|O75938|O95320	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000263694.4	37	NULL	CCDS340.1	1																																																																																			-	-		0.373	SNRNP40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP40	protein_coding	OTTHUMT00000010657.1	A	NM_004814			31732678	-1	no_errors	ENST00000486941	ensembl	human	known	74_37	rna	DEL	0.040	-
DSCAM	1826	genome.wustl.edu	37	21	41385013	41385013	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr21:41385013C>T	ENST00000400454.1	-	33	6464	c.5987G>A	c.(5986-5988)cGg>cAg	p.R1996Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1996				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	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)				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)				CAAATGGCCCCGGGAGTCGAG	0.517																																					Melanoma(134;970 1778 1785 21664 32388)												0								ENSG00000171587						60.0	60.0	60.0					21																	41385013		1899	4124	6023	DSCAM	SO:0001583	missense	0			-	HGNC	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.5987G>A	21.37:g.41385013C>T	ENSP00000383303:p.Arg1996Gln	Somatic	0	28	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	34	12.82	O60468	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.R1996Q	ENST00000400454.1	37	c.5987	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	.	20.7	4.036872	0.75617	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.70516	-0.36;-0.49	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.82806	0.5117	M	0.63843	1.955	0.44492	D	0.997432	D	0.69078	0.997	D	0.70227	0.968	D	0.84339	0.0526	10	0.87932	D	0	.	19.17	0.93574	0.0:1.0:0.0:0.0	.	1996	O60469	DSCAM_HUMAN	Q	1996;1730	ENSP00000383303:R1996Q;ENSP00000385342:R1730Q	ENSP00000383303:R1996Q	R	-	2	0	DSCAM	40306883	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.262000	0.78410	2.521000	0.84997	0.557000	0.71058	CGG	-	NULL		0.517	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	C	NM_001389	-		41385013	-1	no_errors	ENST00000400454	ensembl	human	known	74_37	missense	SNP	1.000	T
KNDC1	85442	genome.wustl.edu	37	10	134981792	134981792	+	Silent	SNP	C	C	T	rs570488032		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr10:134981792C>T	ENST00000304613.3	+	3	357	c.336C>T	c.(334-336)ttC>ttT	p.F112F	KNDC1_ENST00000530127.1_3'UTR|KNDC1_ENST00000368572.2_Silent_p.F112F|KNDC1_ENST00000368571.2_Silent_p.F47F			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	112	KIND 1. {ECO:0000255|PROSITE- ProRule:PRU00709}.				cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCCCCGAGTTCGACGTGACCG	0.572																																																	0								ENSG00000171798						118.0	112.0	114.0					10																	134981792		2203	4300	6503	KNDC1	SO:0001819	synonymous_variant	0			-	HGNC	AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.336C>T	10.37:g.134981792C>T		Somatic	0	103	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	55	31.25	B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.F112	ENST00000304613.3	37	c.336	CCDS7674.1	10																																																																																			-	superfamily_Kinase-like_dom,smart_KIND		0.572	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	protein_coding	OTTHUMT00000277044.3	C	NM_152643	-		134981792	+1	no_errors	ENST00000368572	ensembl	human	known	74_37	silent	SNP	0.987	T
GOLGA8S	653061	genome.wustl.edu	37	15	23605389	23605389	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr15:23605389G>A	ENST00000562295.1	+	9	602	c.602G>A	c.(601-603)cGc>cAc	p.R201H						golgin A8 family, member S																		TTCTCCAGCCGCAGTAAAGCA	0.562																																																	0								ENSG00000261739																																			GOLGA8S	SO:0001583	missense	0			-	HGNC			15q11.2	2013-01-17			ENSG00000261739	ENSG00000261739			44409	other	unknown							Standard	NR_038843		Approved		uc021sfv.2		OTTHUMG00000176415	ENST00000562295.1:c.602G>A	15.37:g.23605389G>A	ENSP00000455298:p.Arg201His	Somatic	0	260	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	241	12.64		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R201H	ENST00000562295.1	37	c.602		15																																																																																			-	NULL		0.562	GOLGA8S-001	NOVEL	basic|appris_principal	protein_coding	GOLGA8S	protein_coding	OTTHUMT00000431934.1	G	NR_038843	-		23605389	+1	no_errors	ENST00000562295	ensembl	human	novel	74_37	missense	SNP	0.094	A
MROH5	389690	genome.wustl.edu	37	8	142445541	142445542	+	RNA	INS	-	-	CCCGCGGCCCTGGCCCG			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr8:142445541_142445542insCCCGCGGCCCTGGCCCG	ENST00000606664.1	+	0	897_898				MROH5_ENST00000430863.1_RNA																							AGGCTGGTCTGCCCGCGGCCCT	0.688																																																	0								ENSG00000271959																																			CTD-3064M3.7			0				Clone_based_vega_gene																													8.37:g.142445541_142445542insCCCGCGGCCCTGGCCCG		Somatic	NA	NA	NA		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000606664.1	37	NULL		8																																																																																			-	-		0.688	CTD-3064M3.7-001	KNOWN	non_canonical_TEC|basic	antisense	ENSG00000271959	antisense	OTTHUMT00000470872.1	-				142445542	+1	no_errors	ENST00000606664	ensembl	human	known	74_37	rna	INS	0.000:0.000	CCCGCGGCCCTGGCCCG
TUBGCP6	85378	genome.wustl.edu	37	22	50656429	50656429	+	Silent	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr22:50656429C>T	ENST00000248846.5	-	24	5390	c.5286G>A	c.(5284-5286)ccG>ccA	p.P1762P	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1762					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTGCACCCCGCGGGCCCCCAG	0.617																																																	0								ENSG00000128159						21.0	30.0	27.0					22																	50656429		2122	4171	6293	TUBGCP6	SO:0001819	synonymous_variant	0			-	HGNC	AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.5286G>A	22.37:g.50656429C>T		Somatic	0	60	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	52	8.77	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_TUBGCP	p.P1762	ENST00000248846.5	37	c.5286	CCDS14087.1	22																																																																																			-	NULL		0.617	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	protein_coding	OTTHUMT00000075004.3	C	NM_020461	-		50656429	-1	no_errors	ENST00000248846	ensembl	human	known	74_37	silent	SNP	0.983	T
CXorf30	645090	genome.wustl.edu	37	X	36329023	36329023	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chrX:36329023C>T	ENST00000378657.4	+	10	1249	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C		NM_001098843.4	NP_001092313.2	A6PW82	CX030_HUMAN	chromosome X open reading frame 30	201										breast(1)|lung(2)|stomach(1)	4						AATAACCACACGCATTGGTCT	0.353																																																	0								ENSG00000205081						179.0	143.0	154.0					X																	36329023		692	1590	2282	CXorf30	SO:0001583	missense	0			-	HGNC		CCDS55396.1	Xp21.1	2014-08-07			ENSG00000205081	ENSG00000205081			27298	protein-coding gene	gene with protein product							Standard	NM_001098843		Approved		uc011mkc.3	A6PW82	OTTHUMG00000021353	ENST00000378657.4:c.601C>T	X.37:g.36329023C>T	ENSP00000367926:p.Arg201Cys	Somatic	0	24	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	31	26.19		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R201C	ENST00000378657.4	37	c.601	CCDS55396.1	X	.	.	.	.	.	.	.	.	.	.	C	9.381	1.072989	0.20147	.	.	ENSG00000205081	ENST00000378653;ENST00000378657	T;T	0.23754	1.9;1.89	5.29	-2.51	0.06365	.	.	.	.	.	T	0.12178	0.0296	N	0.22421	0.69	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.28332	-1.0047	9	0.42905	T	0.14	.	0.3689	0.00376	0.3243:0.2478:0.1287:0.2992	.	201	A6PW82	CX030_HUMAN	C	486;201	ENSP00000367922:R486C;ENSP00000367926:R201C	ENSP00000367922:R486C	R	+	1	0	CXorf30	36238944	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.558000	0.05978	-0.574000	0.05990	-0.351000	0.07748	CGC	-	NULL		0.353	CXorf30-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf30	protein_coding		C	NP_001092313	-		36329023	+1	no_errors	ENST00000378657	ensembl	human	known	74_37	missense	SNP	0.000	T
CD209	30835	genome.wustl.edu	37	19	7808072	7808072	+	Silent	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:7808072G>A	ENST00000315599.7	-	7	1090	c.1068C>T	c.(1066-1068)tgC>tgT	p.C356C	CD209_ENST00000354397.6_Silent_p.C350C|CD209_ENST00000593660.1_Silent_p.C286C|CD209_ENST00000602261.1_Silent_p.C264C|CD209_ENST00000301357.8_Silent_p.C220C|CD209_ENST00000601256.1_Missense_Mutation_p.R295C|CD209_ENST00000204801.8_Silent_p.C312C|CD209_ENST00000601951.1_Silent_p.C332C|CD209_ENST00000315591.8_Silent_p.C332C|CD209_ENST00000394173.4_Silent_p.C195C|CD209_ENST00000593821.1_Silent_p.C220C|CD209_ENST00000394161.5_Silent_p.C120C	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	356	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				antigen processing and presentation (GO:0019882)|cell-cell recognition (GO:0009988)|endocytosis (GO:0006897)|heterophilic cell-cell adhesion (GO:0007157)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intracellular transport of virus (GO:0075733)|leukocyte cell-cell adhesion (GO:0007159)|modulation by virus of host morphology or physiology (GO:0019048)|peptide antigen transport (GO:0046968)|regulation of T cell proliferation (GO:0042129)|viral genome replication (GO:0019079)|virion attachment to host cell (GO:0019062)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)|peptide antigen binding (GO:0042605)|virion binding (GO:0046790)			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TAAATTCCGCGCAGTCTTCCT	0.527																																																	0								ENSG00000090659						251.0	228.0	236.0					19																	7808072		2203	4300	6503	CD209	SO:0001819	synonymous_variant	0			-	HGNC	M98457	CCDS12186.1, CCDS45949.1, CCDS45950.1, CCDS45951.1, CCDS45952.1, CCDS59344.1, CCDS59345.1	19p13	2011-08-30	2006-03-28			ENSG00000090659		"""C-type lectin domain containing"", ""CD molecules"""	1641	protein-coding gene	gene with protein product		604672	"""CD209 antigen"""			1518869	Standard	NM_021155		Approved	DC-SIGN, CDSIGN, DC-SIGN1, CLEC4L	uc002mht.2	Q9NNX6		ENST00000315599.7:c.1068C>T	19.37:g.7808072G>A		Somatic	0	78	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	71	19.32	A8KAM4|A8MVQ9|G5E9C4|Q2TB19|Q96QP7|Q96QP8|Q96QP9|Q96QQ0|Q96QQ1|Q96QQ2|Q96QQ3|Q96QQ4|Q96QQ5|Q96QQ6|Q96QQ7|Q96QQ8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_C-type_lectin_fold	p.R295C	ENST00000315599.7	37	c.883	CCDS12186.1	19																																																																																			-	NULL		0.527	CD209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD209	protein_coding	OTTHUMT00000462241.1	G	NM_021155	-		7808072	-1	no_errors	ENST00000601256	ensembl	human	known	74_37	missense	SNP	0.012	A
MIR202	574448	genome.wustl.edu	37	10	135061123	135061123	+	RNA	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr10:135061123C>T	ENST00000300167.6	-	0	177				MIR202_ENST00000553459.1_RNA|MIR202_ENST00000362219.2_RNA					microRNA 202																		GGCTCTGAGGCGGGCCGGCTC	0.632																																																	0								ENSG00000166917						15.0	24.0	21.0					10																	135061123		1056	2441	3497	MIR202			0			-	HGNC			10q26.3	2011-09-12		2008-12-18	ENSG00000199089	ENSG00000278352		"""ncRNAs / Micro RNAs"""	32080	non-coding RNA	RNA, micro				MIRN202			Standard	NR_030170		Approved	hsa-mir-202	uc009ybh.2				10.37:g.135061123C>T		Somatic	0	100	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	67	23.66		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000300167.6	37	NULL		10																																																																																			-	-		0.632	MIR202-001	KNOWN	basic|exp_conf	antisense	MIR202	antisense	OTTHUMT00000409806.1	C	NR_030170	-		135061123	-1	no_errors	ENST00000300167	ensembl	human	known	74_37	rna	SNP	0.000	T
OR8H1	219469	genome.wustl.edu	37	11	56057792	56057792	+	Silent	SNP	G	G	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr11:56057792G>T	ENST00000313022.2	-	1	774	c.747C>A	c.(745-747)atC>atA	p.I249I		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	249						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(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					TTCCATAAAAGATGGTGACTC	0.368																																																	0								ENSG00000181693						93.0	91.0	92.0					11																	56057792		2201	4296	6497	OR8H1	SO:0001819	synonymous_variant	0			-	HGNC	AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.747C>A	11.37:g.56057792G>T		Somatic	0	42	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	48	21.31	B2RNI7|Q6IFC5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I249	ENST00000313022.2	37	c.747	CCDS31526.1	11																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.368	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	protein_coding	OTTHUMT00000370019.1	G	NM_001005199	-		56057792	-1	no_errors	ENST00000313022	ensembl	human	known	74_37	silent	SNP	0.089	T
TAF6L	10629	genome.wustl.edu	37	11	62553797	62553797	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr11:62553797T>A	ENST00000294168.3	+	10	1227	c.1026T>A	c.(1024-1026)gaT>gaA	p.D342E	TMEM179B_ENST00000533861.1_5'Flank|RP11-727F15.12_ENST00000601484.1_RNA|TMEM179B_ENST00000333449.4_5'Flank|TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	342					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CTGTGCTGGATGATTATTCAG	0.502											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000162227						181.0	170.0	174.0					11																	62553797		2201	4299	6500	TAF6L	SO:0001583	missense	0			-	HGNC	BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.1026T>A	11.37:g.62553797T>A	ENSP00000294168:p.Asp342Glu	Somatic	0	42	0.00	1062	0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	49	10.91	B2RAT0|Q96HA6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd	p.D342E	ENST00000294168.3	37	c.1026	CCDS8035.1	11	.	.	.	.	.	.	.	.	.	.	T	16.20	3.057236	0.55325	.	.	ENSG00000162227	ENST00000294168	T	0.63913	-0.07	5.72	-3.08	0.05347	.	0.000000	0.85682	D	0.000000	T	0.57770	0.2076	N	0.17082	0.46	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.55321	-0.8159	10	0.21014	T	0.42	-11.9253	13.4101	0.60938	0.0:0.6326:0.0:0.3674	.	342	Q9Y6J9	TAF6L_HUMAN	E	342	ENSP00000294168:D342E	ENSP00000294168:D342E	D	+	3	2	TAF6L	62310373	0.022000	0.18835	0.973000	0.42090	0.997000	0.91878	-0.976000	0.03786	-0.353000	0.08224	0.524000	0.50904	GAT	-	NULL		0.502	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6L	protein_coding	OTTHUMT00000395352.1	T	NM_006473	-		62553797	+1	no_errors	ENST00000294168	ensembl	human	known	74_37	missense	SNP	0.957	A
KRT6C	286887	genome.wustl.edu	37	12	52867478	52867478	+	Missense_Mutation	SNP	C	C	T	rs142765056		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:52867478C>T	ENST00000252250.6	-	1	91	c.44G>A	c.(43-45)cGc>cAc	p.R15H		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	15	Head.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GAAACCCCGGCGGCTGCTGCT	0.667													c|||	1	0.000199681	0.0	0.0	5008	,	,		14919	0.0		0.0	False		,,,				2504	0.001																0								ENSG00000170465	C	HIS/ARG	0,4246		0,0,2123	13.0	16.0	15.0		44	-1.9	0.0	12	dbSNP_134	15	1,8391		0,1,4195	no	missense	KRT6C	NM_173086.4	29	0,1,6318	TT,TC,CC		0.0119,0.0,0.0079	benign	15/565	52867478	1,12637	2123	4196	6319	KRT6C	SO:0001583	missense	0			-	HGNC	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.44G>A	12.37:g.52867478C>T	ENSP00000252250:p.Arg15His	Somatic	0	100	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	72	30.10	A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.R15H	ENST00000252250.6	37	c.44	CCDS8829.1	12	.	.	.	.	.	.	.	.	.	.	c	12.20	1.865433	0.32977	0.0	1.19E-4	ENSG00000170465	ENST00000252250	T	0.10860	2.83	3.02	-1.85	0.07784	.	0.658638	0.14757	N	0.300258	T	0.08447	0.0210	L	0.42581	1.335	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32025	-0.9922	10	0.28530	T	0.3	.	9.3628	0.38206	0.0:0.5189:0.0:0.4811	.	15	P48668	K2C6C_HUMAN	H	15	ENSP00000252250:R15H	ENSP00000252250:R15H	R	-	2	0	KRT6C	51153745	0.000000	0.05858	0.000000	0.03702	0.258000	0.26162	-1.676000	0.01946	-0.462000	0.06984	-0.351000	0.07748	CGC	-	NULL		0.667	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6C	protein_coding	OTTHUMT00000404976.1	C	NM_173086	rs142765056		52867478	-1	no_errors	ENST00000252250	ensembl	human	known	74_37	missense	SNP	0.000	T
OBSCN	84033	genome.wustl.edu	37	1	228451900	228451900	+	Missense_Mutation	SNP	G	G	A	rs373860140		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr1:228451900G>A	ENST00000422127.1	+	16	4713	c.4669G>A	c.(4669-4671)Gag>Aag	p.E1557K	OBSCN_ENST00000570156.2_Missense_Mutation_p.E1741K|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.E1557K|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Missense_Mutation_p.E213K	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1557	Ig-like 16.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTGAGCTGCGAGGTGGCCCA	0.652																																																	0								ENSG00000154358	G	LYS/GLU,LYS/GLU	0,4178		0,0,2089	59.0	63.0	62.0		4669,4669	4.8	1.0	1		62	1,8413		0,1,4206	no	missense,missense	OBSCN	NM_001098623.1,NM_052843.2	56,56	0,1,6295	AA,AG,GG		0.0119,0.0,0.0079	probably-damaging,probably-damaging	1557/7969,1557/6621	228451900	1,12591	2089	4207	6296	OBSCN	SO:0001583	missense	0			-	HGNC	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.4669G>A	1.37:g.228451900G>A	ENSP00000409493:p.Glu1557Lys	Somatic	0	161	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	96	26.72	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.E1557K	ENST00000422127.1	37	c.4669	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	.	22.2	4.251337	0.80135	0.0	1.19E-4	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000359599	T;T;T	0.66280	-0.2;-0.2;-0.2	4.82	4.82	0.62117	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000003	T	0.72581	0.3478	L	0.48642	1.525	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.69654	0.965;0.964	T	0.69157	-0.5219	10	0.30078	T	0.28	.	18.0865	0.89458	0.0:0.0:1.0:0.0	.	1557;1557	Q5VST9;Q5VST9-3	OBSCN_HUMAN;.	K	1557;1557;213	ENSP00000284548:E1557K;ENSP00000409493:E1557K;ENSP00000352613:E213K	ENSP00000284548:E1557K	E	+	1	0	OBSCN	226518523	0.952000	0.32445	0.990000	0.47175	0.336000	0.28762	1.464000	0.35288	2.509000	0.84616	0.591000	0.81541	GAG	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.652	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		G	NM_052843	-		228451900	+1	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	SNP	1.000	A
KDM5C	8242	genome.wustl.edu	37	X	53246347	53246347	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chrX:53246347C>T	ENST00000375401.3	-	5	1167	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	KDM5C_ENST00000452825.3_Missense_Mutation_p.R145Q|KDM5C_ENST00000375379.3_Missense_Mutation_p.R212Q|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000404049.3_Missense_Mutation_p.R211Q|KDM5C_ENST00000375383.3_Missense_Mutation_p.R171Q	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	212					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TCTCTTGGCCCGCCGGCCATA	0.532			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0								ENSG00000126012						122.0	89.0	100.0					X																	53246347		2203	4300	6503	KDM5C	SO:0001583	missense	0			-	HGNC	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.635G>A	X.37:g.53246347C>T	ENSP00000364550:p.Arg212Gln	Somatic	0	19	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	10	58.33	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.R212Q	ENST00000375401.3	37	c.635	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	c	32	5.160890	0.94727	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D;D	0.89681	-2.55;-2.16;-2.16;-2.16;-2.39	5.47	5.47	0.80525	.	0.055068	0.64402	D	0.000001	D	0.94676	0.8283	M	0.85710	2.77	0.58432	D	0.999993	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.70016	0.967;0.922;0.922	D	0.95395	0.8485	10	0.87932	D	0	-21.267	15.6711	0.77274	0.0:1.0:0.0:0.0	.	145;211;212	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	Q	145;212;211;212;171	ENSP00000445176:R145Q;ENSP00000364550:R212Q;ENSP00000385394:R211Q;ENSP00000364528:R212Q;ENSP00000364532:R171Q	ENSP00000364528:R212Q	R	-	2	0	KDM5C	53263072	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.296000	0.77279	0.529000	0.55759	CGG	-	NULL		0.532	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	protein_coding	OTTHUMT00000056737.2	C	NM_004187	-		53246347	-1	no_errors	ENST00000375401	ensembl	human	known	74_37	missense	SNP	1.000	T
GPT2	84706	genome.wustl.edu	37	16	46943614	46943614	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr16:46943614G>A	ENST00000340124.4	+	6	707	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	GPT2_ENST00000440783.2_Missense_Mutation_p.V99I	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	199					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	GAAGATCCTCGTCTCCGGGGG	0.552																																																	0								ENSG00000166123						52.0	52.0	52.0					16																	46943614		2203	4300	6503	GPT2	SO:0001583	missense	0			-	HGNC		CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.595G>A	16.37:g.46943614G>A	ENSP00000345282:p.Val199Ile	Somatic	0	75	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	101	19.84	Q8N9E2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	p.V199I	ENST00000340124.4	37	c.595	CCDS10725.1	16	.	.	.	.	.	.	.	.	.	.	G	7.048	0.563870	0.13498	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	T;T	0.22336	1.98;1.96	5.12	5.12	0.69794	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.08626	0.0214	N	0.03154	-0.405	0.58432	D	0.999997	B	0.15719	0.014	B	0.13407	0.009	T	0.12656	-1.0539	10	0.02654	T	1	.	14.0263	0.64588	0.0743:0.0:0.9257:0.0	.	199	Q8TD30	ALAT2_HUMAN	I	199;99	ENSP00000345282:V199I;ENSP00000413804:V99I	ENSP00000345282:V199I	V	+	1	0	GPT2	45501115	1.000000	0.71417	0.994000	0.49952	0.223000	0.24884	7.316000	0.79007	2.664000	0.90586	0.655000	0.94253	GTC	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase		0.552	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT2	protein_coding	OTTHUMT00000255741.2	G		-		46943614	+1	no_errors	ENST00000340124	ensembl	human	known	74_37	missense	SNP	1.000	A
TMEFF1	8577	genome.wustl.edu	37	9	103261070	103261070	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr9:103261070G>A	ENST00000374879.4	+	2	652	c.220G>A	c.(220-222)Gta>Ata	p.V74I	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.R37H|TMEFF1_ENST00000334943.6_Missense_Mutation_p.V35I	NM_003692.4	NP_003683.2	Q8IYR6	TEFF1_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 1	74					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.V74I(1)		NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				GGAGTCTGACGTAAGAGTTTG	0.388																																																	1	Substitution - Missense(1)	kidney(1)						ENSG00000241697						145.0	146.0	145.0					9																	103261070		2203	4300	6503	TMEFF1	SO:0001583	missense	0			-	HGNC	U19878	CCDS6750.1	9q31	2010-05-04			ENSG00000241697	ENSG00000241697			11866	protein-coding gene	gene with protein product	"""tomoregulin-1"", ""cancer/testis antigen family 120, member 1"""	603421		C9orf2		9730596	Standard	NM_003692		Approved	H7365, CT120.1		Q8IYR6	OTTHUMG00000020367	ENST00000374879.4:c.220G>A	9.37:g.103261070G>A	ENSP00000364013:p.Val74Ile	Somatic	0	37	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	65	8.45	Q13086|Q8N3T8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom	p.V74I	ENST00000374879.4	37	c.220	CCDS6750.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.04|12.04	1.817993|1.817993	0.32145|0.32145	.|.	.|.	ENSG00000251349|ENSG00000241697	ENST00000502978|ENST00000334943;ENST00000374879	.|T;T	.|0.57595	.|0.41;0.39	5.76|5.76	-0.436|-0.436	0.12275|0.12275	.|Epidermal growth factor-like, type 3 (1);	.|0.449483	.|0.24094	.|N	.|0.041619	T|T	0.28067|0.28067	0.0692|0.0692	N|N	0.22421|0.22421	0.69|0.69	0.26946|0.26946	N|N	0.96614|0.96614	.|B;P	.|0.38745	.|0.002;0.645	.|B;B	.|0.32022	.|0.003;0.139	T|T	0.14504|0.14504	-1.0470|-1.0470	5|10	.|0.36615	.|T	.|0.2	-7.8123|-7.8123	6.0187|6.0187	0.19616|0.19616	0.3641:0.1231:0.5128:0.0|0.3641:0.1231:0.5128:0.0	.|.	.|74;35	.|Q8IYR6;Q8IYR6-2	.|TEFF1_HUMAN;.	H|I	37|35;74	.|ENSP00000334447:V35I;ENSP00000364013:V74I	.|ENSP00000334447:V35I	R|V	+|+	2|1	0|0	C9orf30-TMEFF1|TMEFF1	102300891|102300891	0.973000|0.973000	0.33851|0.33851	0.514000|0.514000	0.27761|0.27761	0.811000|0.811000	0.45836|0.45836	0.776000|0.776000	0.26704|0.26704	-0.263000|-0.263000	0.09378|0.09378	-0.136000|-0.136000	0.14681|0.14681	CGT|GTA	-	NULL		0.388	TMEFF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF1	protein_coding	OTTHUMT00000053418.1	G	NM_003692	-		103261070	+1	no_errors	ENST00000374879	ensembl	human	known	74_37	missense	SNP	0.945	A
SPTBN4	57731	genome.wustl.edu	37	19	41025405	41025405	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:41025405G>A	ENST00000352632.3	+	16	3087	c.3001G>A	c.(3001-3003)Gcc>Acc	p.A1001T	SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1001T|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1001T|SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1001T|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A1001T			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1001					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)			CGAGGTGCGCGCCCAGGTGCG	0.687																																																	0								ENSG00000160460						20.0	25.0	23.0					19																	41025405		2201	4294	6495	SPTBN4	SO:0001583	missense	0			-	HGNC	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.3001G>A	19.37:g.41025405G>A	ENSP00000263373:p.Ala1001Thr	Somatic	0	86	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	50	15.25	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.A1001T	ENST00000352632.3	37	c.3001	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	G	13.28	2.188915	0.38707	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.78003	-1.02;-1.01;-1.14	4.63	-3.11	0.05299	.	0.830635	0.10535	N	0.663359	T	0.52709	0.1751	N	0.12182	0.205	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.06405	0.001;0.002	T	0.21690	-1.0238	10	0.29301	T	0.29	.	4.3562	0.11179	0.4328:0.0:0.1962:0.371	.	1001;1001	Q9H254;Q71S06	SPTN4_HUMAN;.	T	1001	ENSP00000263373:A1001T;ENSP00000340345:A1001T;ENSP00000340741:A1001T	ENSP00000340345:A1001T	A	+	1	0	SPTBN4	45717245	0.001000	0.12720	0.978000	0.43139	0.910000	0.53928	-0.085000	0.11250	-0.293000	0.08986	-1.244000	0.01528	GCC	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin		0.687	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	protein_coding	OTTHUMT00000462559.2	G		-		41025405	+1	no_errors	ENST00000352632	ensembl	human	known	74_37	missense	SNP	0.990	A
CCDC37	348807	genome.wustl.edu	37	3	126139062	126139062	+	Missense_Mutation	SNP	G	G	A	rs377186686		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr3:126139062G>A	ENST00000352312.1	+	11	1171	c.1072G>A	c.(1072-1074)Gac>Aac	p.D358N	CCDC37_ENST00000505024.1_Missense_Mutation_p.D359N|CCDC37_ENST00000393425.1_Missense_Mutation_p.D359N	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	358										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CAGCGGTGGCGACTCCAGAGG	0.672																																																	0								ENSG00000163885						22.0	26.0	25.0					3																	126139062		2198	4292	6490	CCDC37	SO:0001583	missense	0			-	HGNC	AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1072G>A	3.37:g.126139062G>A	ENSP00000344749:p.Asp358Asn	Somatic	0	75	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	63	11.27	D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_SuperAg_toxin_C	p.D359N	ENST00000352312.1	37	c.1075	CCDS3037.1	3	.	.	.	.	.	.	.	.	.	.	G	7.434	0.639213	0.14386	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.31769	1.48;1.48;1.48	3.2	0.354	0.16063	.	1.574570	0.02954	N	0.142188	T	0.24812	0.0602	L	0.33485	1.01	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.04013	0.001;0.0	T	0.18840	-1.0324	10	0.29301	T	0.29	-11.9289	7.7761	0.29037	0.245:0.0:0.755:0.0	.	359;358	Q494V2-2;Q494V2	.;CCD37_HUMAN	N	358;359;359	ENSP00000344749:D358N;ENSP00000377076:D359N;ENSP00000423046:D359N	ENSP00000344749:D358N	D	+	1	0	CCDC37	127621752	0.021000	0.18746	0.000000	0.03702	0.115000	0.19883	0.741000	0.26202	0.060000	0.16281	-0.752000	0.03492	GAC	-	NULL		0.672	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	protein_coding	OTTHUMT00000370099.4	G	NM_182628	-		126139062	+1	no_errors	ENST00000393425	ensembl	human	known	74_37	missense	SNP	0.000	A
OR7G2	390882	genome.wustl.edu	37	19	9213641	9213641	+	Silent	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:9213641C>T	ENST00000305456.2	-	1	341	c.342G>A	c.(340-342)acG>acA	p.T114T		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGCCTGAGTACGTGATGCTCC	0.468																																					Esophageal Squamous(67;143 1448 28637 40648)												0								ENSG00000170923						147.0	136.0	140.0					19																	9213641		2203	4300	6503	OR7G2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS32897.1	19p13.2	2013-09-24			ENSG00000170923	ENSG00000170923		"""GPCR / Class A : Olfactory receptors"""	8466	protein-coding gene	gene with protein product							Standard	NM_001005193		Approved	OST260	uc010xkk.2	Q8NG99	OTTHUMG00000179931	ENST00000305456.2:c.342G>A	19.37:g.9213641C>T		Somatic	0	80	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	76	23.23	Q6IFJ4|Q96RA0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T114	ENST00000305456.2	37	c.342	CCDS32897.1	19																																																																																			-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.468	OR7G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7G2	protein_coding	OTTHUMT00000448994.1	C		-		9213641	-1	no_errors	ENST00000305456	ensembl	human	known	74_37	silent	SNP	0.000	T
WDFY4	57705	genome.wustl.edu	37	10	49944117	49944117	+	Splice_Site	SNP	T	T	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr10:49944117T>A	ENST00000325239.5	+	10	1905		c.e10+2		WDFY4_ENST00000360890.2_Missense_Mutation_p.V627E|WDFY4_ENST00000413659.2_Splice_Site	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4							integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CTCCTGAAGGTGATTTCAAGT	0.488																																																	0								ENSG00000128815						29.0	27.0	27.0					10																	49944117		692	1591	2283	WDFY4	SO:0001630	splice_region_variant	0			-	HGNC	AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.1878+2T>A	10.37:g.49944117T>A		Somatic	0	44	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	38	22.45	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e10+2	ENST00000325239.5	37	c.1878+2	CCDS44385.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.208033|4.208033	0.79240|0.79240	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000454161;ENST00000426033;ENST00000325239;ENST00000413659|ENST00000360890	.|T	.|0.45668	.|0.89	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	.|.	.|.	.|.	.|.	.|T	.|0.64461	.|0.2600	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	.|T	.|0.66148	.|-0.5996	.|7	.|.	.|.	.|.	.|.	14.9737|14.9737	0.71254|0.71254	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|627	.|Q6ZS81-2	.|.	.|E	-1|627	.|ENSP00000354141:V627E	.|.	.|V	+|+	.|2	.|0	WDFY4|WDFY4	49614123|49614123	1.000000|1.000000	0.71417|0.71417	0.915000|0.915000	0.36163|0.36163	0.878000|0.878000	0.50629|0.50629	7.423000|7.423000	0.80229|0.80229	2.183000|2.183000	0.69458|0.69458	0.533000|0.533000	0.62120|0.62120	.|GTG	-	-		0.488	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	protein_coding		T	XM_033379	-	Intron	49944117	+1	no_errors	ENST00000325239	ensembl	human	known	74_37	splice_site	SNP	0.999	A
SCN3A	6328	genome.wustl.edu	37	2	166011012	166011012	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr2:166011012C>T	ENST00000360093.3	-	11	1821	c.1330G>A	c.(1330-1332)Gaa>Aaa	p.E444K	SCN3A_ENST00000283254.7_Missense_Mutation_p.E444K|SCN3A_ENST00000409101.3_Missense_Mutation_p.E444K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	444					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGCTGAAATTCGGCCTCTTTT	0.413																																																	0								ENSG00000153253						118.0	114.0	116.0					2																	166011012		2203	4300	6503	SCN3A	SO:0001583	missense	0			-	HGNC	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1330G>A	2.37:g.166011012C>T	ENSP00000353206:p.Glu444Lys	Somatic	0	77	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	51	36.25	Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.E444K	ENST00000360093.3	37	c.1330		2	.	.	.	.	.	.	.	.	.	.	C	19.38	3.815684	0.70912	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96802	-4.13;-4.13;-4.1;-4.03	5.6	5.6	0.85130	.	0.099447	0.43919	D	0.000514	D	0.97636	0.9225	M	0.63169	1.94	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.999;0.999;0.999;0.999	D;D;D;D;D	0.76575	0.972;0.972;0.988;0.988;0.988	D	0.96854	0.9627	10	0.33940	T	0.23	.	19.6137	0.95619	0.0:1.0:0.0:0.0	.	444;444;444;444;444	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	K	444	ENSP00000353206:E444K;ENSP00000283254:E444K;ENSP00000386726:E444K;ENSP00000403348:E444K	ENSP00000283254:E444K	E	-	1	0	SCN3A	165719258	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	7.818000	0.86416	2.636000	0.89361	0.591000	0.81541	GAA	-	NULL		0.413	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	SCN3A	protein_coding		C	NM_006922	-		166011012	-1	no_errors	ENST00000283254	ensembl	human	known	74_37	missense	SNP	1.000	T
SCAF1	58506	genome.wustl.edu	37	19	50150007	50150007	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:50150007G>A	ENST00000360565.3	+	6	522	c.398G>A	c.(397-399)cGa>cAa	p.R133Q		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	133					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCTGAGGTCCGAATCGGGGAC	0.662																																																	0								ENSG00000126461						53.0	37.0	43.0					19																	50150007		2202	4300	6502	SCAF1	SO:0001583	missense	0			-	HGNC	AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.398G>A	19.37:g.50150007G>A	ENSP00000353769:p.Arg133Gln	Somatic	0	40	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	44	13.73	Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R133Q	ENST00000360565.3	37	c.398	CCDS33074.1	19	.	.	.	.	.	.	.	.	.	.	G	12.98	2.101316	0.37048	.	.	ENSG00000126461	ENST00000360565;ENST00000447618	T	0.35048	1.33	4.56	3.38	0.38709	.	0.385199	0.19178	N	0.120748	T	0.13756	0.0333	N	0.08118	0	0.26353	N	0.977178	P	0.39624	0.681	B	0.27608	0.081	T	0.11616	-1.0580	10	0.87932	D	0	-3.8379	4.9912	0.14214	0.246:0.0:0.754:0.0	.	133	Q9H7N4	SFR19_HUMAN	Q	133	ENSP00000353769:R133Q	ENSP00000353769:R133Q	R	+	2	0	SCAF1	54841819	0.999000	0.42202	0.947000	0.38551	0.930000	0.56654	2.238000	0.43070	1.112000	0.41740	0.561000	0.74099	CGA	-	NULL		0.662	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	protein_coding	OTTHUMT00000465764.1	G	NM_021228	-		50150007	+1	no_errors	ENST00000360565	ensembl	human	known	74_37	missense	SNP	0.909	A
SLC32A1	140679	genome.wustl.edu	37	20	37356570	37356570	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr20:37356570C>T	ENST00000217420.1	+	2	1129	c.866C>T	c.(865-867)gCg>gTg	p.A289V		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	289					aging (GO:0007568)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell tip (GO:0051286)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cone cell pedicle (GO:0044316)|dendrite (GO:0030425)|dendrite terminus (GO:0044292)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	gamma-aminobutyric acid:proton symporter activity (GO:0015495)|glycine transmembrane transporter activity (GO:0015187)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	CTATCGCGGGCGCGCGACTGG	0.527																																																	0								ENSG00000101438						75.0	57.0	63.0					20																	37356570		2203	4300	6503	SLC32A1	SO:0001583	missense	0			-	HGNC	AL133519	CCDS13307.1	20q11	2013-05-22			ENSG00000101438	ENSG00000101438		"""Solute carriers"""	11018	protein-coding gene	gene with protein product			"""vesicular inhibitory amino acid transporter"""	VIAAT		19843525	Standard	NM_080552		Approved	VGAT, bA122O1.1	uc002xjc.3	Q9H598	OTTHUMG00000032457	ENST00000217420.1:c.866C>T	20.37:g.37356570C>T	ENSP00000217420:p.Ala289Val	Somatic	0	56	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	66	8.33	Q8N489	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_AA_transpt_TM	p.A289V	ENST00000217420.1	37	c.866	CCDS13307.1	20	.	.	.	.	.	.	.	.	.	.	C	8.101	0.776641	0.16120	.	.	ENSG00000101438	ENST00000217420	T	0.02345	4.33	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	T	0.03477	0.0100	L	0.42245	1.32	0.80722	D	1	P	0.42584	0.784	B	0.38458	0.274	T	0.61023	-0.7146	10	0.15499	T	0.54	-17.9732	15.5475	0.76118	0.0:1.0:0.0:0.0	.	289	Q9H598	VIAAT_HUMAN	V	289	ENSP00000217420:A289V	ENSP00000217420:A289V	A	+	2	0	SLC32A1	36789984	1.000000	0.71417	0.989000	0.46669	0.047000	0.14425	7.756000	0.85195	2.358000	0.79984	0.462000	0.41574	GCG	-	pfam_AA_transpt_TM		0.527	SLC32A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC32A1	protein_coding	OTTHUMT00000079206.1	C	NM_080552	-		37356570	+1	no_errors	ENST00000217420	ensembl	human	known	74_37	missense	SNP	1.000	T
PEG3	5178	genome.wustl.edu	37	19	57329980	57329980	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:57329980G>T	ENST00000326441.9	-	8	1123	c.760C>A	c.(760-762)Ctg>Atg	p.L254M	PEG3_ENST00000598410.1_Missense_Mutation_p.L129M|PEG3_ENST00000423103.2_Missense_Mutation_p.L254M|PEG3_ENST00000593695.1_Missense_Mutation_p.L128M|ZIM2_ENST00000593711.1_Missense_Mutation_p.L129M|ZIM2_ENST00000391708.3_Missense_Mutation_p.L129M|ZIM2_ENST00000221722.5_Missense_Mutation_p.L129M|ZIM2_ENST00000599935.1_Missense_Mutation_p.L129M|ZIM2_ENST00000601070.1_Missense_Mutation_p.L129M	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	254					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGGAGAGCAGCTTCCTGTAG	0.478																																																	0								ENSG00000198300						321.0	254.0	276.0					19																	57329980		2203	4300	6503	PEG3	SO:0001583	missense	0			-	HGNC	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.760C>A	19.37:g.57329980G>T	ENSP00000326581:p.Leu254Met	Somatic	0	109	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	96	10.28	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.L254M	ENST00000326441.9	37	c.760	CCDS12948.1	19	.	.	.	.	.	.	.	.	.	.	G	16.44	3.122607	0.56613	.	.	ENSG00000198300	ENST00000391708;ENST00000221722;ENST00000326441;ENST00000423103;ENST00000292074	T;T;T;T	0.09163	3.01;3.01;3.06;3.06	4.0	4.0	0.46444	.	0.000000	0.34676	N	0.003780	T	0.18800	0.0451	L	0.27053	0.805	.	.	.	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.08576	-1.0715	9	0.44086	T	0.13	-16.1567	11.8956	0.52654	0.0:0.0:1.0:0.0	.	129;254;188;129	A7E2B8;Q9GZU2;Q96Q96;Q9NZV7	.;PEG3_HUMAN;.;ZIM2_HUMAN	M	129;129;254;254;254	ENSP00000375589:L129M;ENSP00000221722:L129M;ENSP00000326581:L254M;ENSP00000403051:L254M	ENSP00000221722:L129M	L	-	1	2	ZIM2	62021792	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	1.596000	0.36718	2.532000	0.85374	0.557000	0.71058	CTG	-	NULL		0.478	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PEG3	protein_coding	OTTHUMT00000416099.2	G		-		57329980	-1	no_errors	ENST00000326441	ensembl	human	known	74_37	missense	SNP	1.000	T
PIWIL2	55124	genome.wustl.edu	37	8	22172555	22172555	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr8:22172555G>A	ENST00000454009.2	+	18	2614	c.2105G>A	c.(2104-2106)cGa>cAa	p.R702Q	PIWIL2_ENST00000521356.1_Missense_Mutation_p.R702Q|PIWIL2_ENST00000356766.6_Missense_Mutation_p.R702Q	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	702	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GTCAATGTTCGAACCATTGGT	0.438																																																	0								ENSG00000197181						135.0	130.0	132.0					8																	22172555		2203	4300	6503	PIWIL2	SO:0001583	missense	0			-	HGNC	AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.2105G>A	8.37:g.22172555G>A	ENSP00000406956:p.Arg702Gln	Somatic	0	86	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	79	9.20	A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi	p.R702Q	ENST00000454009.2	37	c.2105	CCDS6029.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.225029	0.95173	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	T;T;T	0.15256	2.44;2.44;2.44	5.57	5.57	0.84162	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.39886	0.1095	M	0.71581	2.175	0.80722	D	1	D;D	0.61080	0.977;0.989	P;P	0.59643	0.687;0.861	T	0.08806	-1.0704	10	0.59425	D	0.04	-0.002	18.6807	0.91545	0.0:0.0:1.0:0.0	.	702;702	E7ECA4;Q8TC59	.;PIWL2_HUMAN	Q	702	ENSP00000349208:R702Q;ENSP00000428267:R702Q;ENSP00000406956:R702Q	ENSP00000349208:R702Q	R	+	2	0	PIWIL2	22228500	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	6.839000	0.75364	2.765000	0.95021	0.650000	0.86243	CGA	-	pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi		0.438	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	protein_coding	OTTHUMT00000375438.1	G		-		22172555	+1	no_errors	ENST00000356766	ensembl	human	known	74_37	missense	SNP	1.000	A
KRT35	3886	genome.wustl.edu	37	17	39635725	39635725	+	Silent	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr17:39635725C>T	ENST00000393989.1	-	3	627	c.585G>A	c.(583-585)ctG>ctA	p.L195L	KRT35_ENST00000246639.2_Silent_p.L165L	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	195	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CTGACTCCACCAGCTGCCGCA	0.592																																																	0								ENSG00000197079						86.0	82.0	83.0					17																	39635725		2203	4300	6503	KRT35	SO:0001819	synonymous_variant	0			-	HGNC	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.585G>A	17.37:g.39635725C>T		Somatic	0	74	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	64	13.51	O76012|Q92651	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.L195	ENST00000393989.1	37	c.585	CCDS11394.2	17																																																																																			-	pfam_IF		0.592	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT35	protein_coding		C	NM_002280	-		39635725	-1	no_errors	ENST00000393989	ensembl	human	known	74_37	silent	SNP	1.000	T
RBBP8NL	140893	genome.wustl.edu	37	20	60987919	60987919	+	Silent	SNP	G	G	A	rs568878182		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr20:60987919G>A	ENST00000252998.1	-	12	1869	c.1713C>T	c.(1711-1713)gaC>gaT	p.D571D		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	571						extracellular space (GO:0005615)											CATCCAGTTCGTCGGACTCTG	0.657													g|||	1	0.000199681	0.0	0.0	5008	,	,		19048	0.0		0.0	False		,,,				2504	0.001																0								ENSG00000130701						130.0	107.0	115.0					20																	60987919		2203	4300	6503	RBBP8NL	SO:0001819	synonymous_variant	0			-	HGNC	AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.1713C>T	20.37:g.60987919G>A		Somatic	0	134	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	81	29.57	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_CtIP_N	p.D571	ENST00000252998.1	37	c.1713	CCDS13498.1	20																																																																																			-	NULL		0.657	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP8NL	protein_coding	OTTHUMT00000080029.1	G	NM_080833	-		60987919	-1	no_errors	ENST00000252998	ensembl	human	known	74_37	silent	SNP	0.000	A
OR4C5	79346	genome.wustl.edu	37	11	48387278	48387279	+	Frame_Shift_Ins	INS	-	-	ACTGTCCTTCTGT	rs113530016|rs139139147|rs76306144	byFrequency	TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr11:48387278_48387279insACTGTCCTTCTGT	ENST00000319813.3	-	1	738_739	c.739_740insACAGAAGGACAGT	c.(739-741)cggfs	p.R247fs				Q8NGB2	OR4C5_HUMAN	olfactory receptor, family 4, subfamily C, member 5	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										GAGAGCCTTCCGCTGTGAGCAG	0.46																																																	0								ENSG00000176540																																			OR4C5	SO:0001589	frameshift_variant	0				HGNC			11p11.2	2013-03-27	2004-03-04	2004-03-05	ENSG00000176540	ENSG00000176540		"""GPCR / Class A : Olfactory receptors"""	14702	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 5 pseudogene"""	OR4C5P			Standard	NG_002247		Approved	OR4C5Q		Q8NGB2	OTTHUMG00000169462	ENST00000319813.3:c.739_740insACAGAAGGACAGT	11.37:g.48387278_48387279insACTGTCCTTCTGT	ENSP00000321338:p.Arg247fs	Somatic	NA	NA	NA		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q6IFB2	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R247fs	ENST00000319813.3	37	c.740_739		11																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.460	OR4C5-001	KNOWN	basic|appris_principal	protein_coding	OR4C5	protein_coding	OTTHUMT00000404174.1	-	NG_002247			48387279	-1	no_errors	ENST00000319813	ensembl	human	known	74_37	frame_shift_ins	INS	0.000:0.000	ACTGTCCTTCTGT
NOTCH4	4855	genome.wustl.edu	37	6	32188188	32188188	+	Missense_Mutation	SNP	G	G	A	rs370312303		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr6:32188188G>A	ENST00000375023.3	-	6	1291	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	385	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATACCTGTGCGTCCAGGTGGG	0.592																																																	0								ENSG00000204301	G	CYS/ARG	0,3022		0,0,1511	133.0	142.0	139.0		1153	4.4	1.0	6		139	1,5417		0,1,2708	no	missense	NOTCH4	NM_004557.3	180	0,1,4219	AA,AG,GG		0.0185,0.0,0.0118	probably-damaging	385/2004	32188188	1,8439	1511	2709	4220	NOTCH4	SO:0001583	missense	0			-	HGNC		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.1153C>T	6.37:g.32188188G>A	ENSP00000364163:p.Arg385Cys	Somatic	0	99	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	80	21.57	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,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_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.R385C	ENST00000375023.3	37	c.1153	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	G	17.87	3.493945	0.64186	0.0	1.85E-4	ENSG00000204301	ENST00000375023	D	0.91740	-2.9	4.36	4.36	0.52297	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.193071	0.25875	N	0.027725	D	0.94262	0.8157	M	0.75264	2.295	0.80722	D	1	D;D	0.89917	1.0;0.999	D;B	0.63488	0.915;0.254	D	0.94793	0.7964	10	0.72032	D	0.01	.	14.4145	0.67139	0.0:0.0:1.0:0.0	.	385;385	Q6P3V5;Q99466	.;NOTC4_HUMAN	C	385	ENSP00000364163:R385C	ENSP00000364163:R385C	R	-	1	0	NOTCH4	32296166	0.997000	0.39634	1.000000	0.80357	0.905000	0.53344	2.450000	0.44943	2.241000	0.73720	0.313000	0.20887	CGC	-	pirsf_Notch,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.592	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	protein_coding	OTTHUMT00000076045.2	G		-		32188188	-1	no_errors	ENST00000375023	ensembl	human	known	74_37	missense	SNP	1.000	A
OR8H2	390151	genome.wustl.edu	37	11	55872648	55872648	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr11:55872648G>A	ENST00000313503.1	+	1	130	c.130G>A	c.(130-132)Gtg>Atg	p.V44M		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	44						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GCTGGGGAATGTGGGGATGAT	0.428										HNSCC(53;0.14)																																							0								ENSG00000181767						297.0	267.0	277.0					11																	55872648		2201	4296	6497	OR8H2	SO:0001583	missense	0			-	HGNC	AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.130G>A	11.37:g.55872648G>A	ENSP00000323982:p.Val44Met	Somatic	0	93	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	89	15.89	Q6IFC1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V44M	ENST00000313503.1	37	c.130	CCDS31518.1	11	.	.	.	.	.	.	.	.	.	.	g	2.077	-0.411711	0.04799	.	.	ENSG00000181767	ENST00000313503	T	0.00441	7.41	3.58	-3.07	0.05363	GPCR, rhodopsin-like superfamily (1);	1.376260	0.04571	N	0.393378	T	0.00241	0.0007	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.41413	-0.9510	10	0.62326	D	0.03	.	2.3718	0.04332	0.1587:0.3365:0.3146:0.1902	.	44	Q8N162	OR8H2_HUMAN	M	44	ENSP00000323982:V44M	ENSP00000323982:V44M	V	+	1	0	OR8H2	55629224	0.000000	0.05858	0.002000	0.10522	0.154000	0.21943	-1.897000	0.01603	-0.339000	0.08401	-1.138000	0.01928	GTG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.428	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	protein_coding	OTTHUMT00000391540.1	G	NM_001005200	-		55872648	+1	no_errors	ENST00000313503	ensembl	human	known	74_37	missense	SNP	0.003	A
GLB1	2720	genome.wustl.edu	37	3	33058210	33058210	+	Silent	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr3:33058210G>A	ENST00000399402.3	-	14	1511	c.1380C>T	c.(1378-1380)aaC>aaT	p.N460N	GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000307377.8_Silent_p.N359N|GLB1_ENST00000307363.5_Silent_p.N490N|GLB1_ENST00000445488.2_Silent_p.N538N	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	490					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CCTTAAAATCGTTGATATATG	0.448																																																	0								ENSG00000170266						253.0	245.0	247.0					3																	33058210		1960	4154	6114	GLB1	SO:0001819	synonymous_variant	0			-	HGNC	M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1380C>T	3.37:g.33058210G>A		Somatic	0	62	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	51	19.05	B2R7H8|B7Z6B0|P16279	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.N538	ENST00000399402.3	37	c.1614	CCDS43062.1	3																																																																																			-	superfamily_Galactose-bd-like		0.448	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	GLB1	protein_coding	OTTHUMT00000341570.2	G	NM_000404	-		33058210	-1	no_errors	ENST00000445488	ensembl	human	known	74_37	silent	SNP	0.169	A
BHMG1	388553	genome.wustl.edu	37	19	46257882	46257882	+	Silent	SNP	G	G	A	rs527645838		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:46257882G>A	ENST00000457052.2	+	7	1118	c.702G>A	c.(700-702)ccG>ccA	p.P234P																								GCGGTCACCCGAGGCCTGCAT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		18610	0.0		0.0	False		,,,				2504	0.001																0								ENSG00000237452																																			AC074212.3	SO:0001819	synonymous_variant	0			-	Clone_based_vega_gene																												ENST00000457052.2:c.702G>A	19.37:g.46257882G>A		Somatic	0	45	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	45	15.09		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_HMG_box_dom,pfam_bHLH_dom,superfamily_HMG_box_dom,superfamily_bHLH_dom,smart_HMG_box_dom,pfscan_bHLH_dom,pfscan_HMG_box_dom	p.P234	ENST00000457052.2	37	c.702		19																																																																																			-	NULL		0.602	AC074212.3-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000237452	protein_coding	OTTHUMT00000343318.3	G		-		46257882	+1	no_errors	ENST00000457052	ensembl	human	putative	74_37	silent	SNP	0.002	A
ITGB2	3689	genome.wustl.edu	37	21	46323418	46323418	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr21:46323418G>A	ENST00000397850.2	-	6	813	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	ITGB2_ENST00000397857.1_Missense_Mutation_p.R121W|ITGB2_ENST00000302347.5_Missense_Mutation_p.R121W|ITGB2_ENST00000397852.1_Missense_Mutation_p.R121W|ITGB2_ENST00000355153.4_Missense_Mutation_p.R121W|ITGB2_ENST00000397854.3_Intron			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	121					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCCTTGGCCCGCCGGAAGGTC	0.592																																																	0								ENSG00000160255						92.0	78.0	83.0					21																	46323418		2203	4300	6503	ITGB2	SO:0001583	missense	0			-	HGNC	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.361C>T	21.37:g.46323418G>A	ENSP00000380948:p.Arg121Trp	Somatic	0	66	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	88	16.98	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu	p.R121W	ENST00000397850.2	37	c.361	CCDS13716.1	21	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247954	0.80024	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000355153;ENST00000397850;ENST00000302347;ENST00000320216;ENST00000523663;ENST00000522931	D;D;D;D;D;D;D;D	0.93189	-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18;-3.18	4.58	3.69	0.42338	Integrin beta subunit, N-terminal (2);	.	.	.	.	D	0.95771	0.8624	M	0.79926	2.475	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	D	0.95398	0.8487	9	0.87932	D	0	.	9.7832	0.40660	0.0:0.0:0.6252:0.3748	.	121	P05107	ITB2_HUMAN	W	121;121;121;121;121;112;121;121	ENSP00000380950:R121W;ENSP00000380955:R121W;ENSP00000347279:R121W;ENSP00000380948:R121W;ENSP00000303242:R121W;ENSP00000317697:R112W;ENSP00000428503:R121W;ENSP00000428979:R121W	ENSP00000303242:R121W	R	-	1	2	ITGB2	45147846	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.407000	0.59754	1.134000	0.42165	0.555000	0.69702	CGG	-	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N		0.592	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	protein_coding	OTTHUMT00000206566.2	G	NM_000211	-		46323418	-1	no_errors	ENST00000302347	ensembl	human	known	74_37	missense	SNP	1.000	A
GSK3A	2931	genome.wustl.edu	37	19	42744317	42744317	+	Intron	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:42744317G>A	ENST00000222330.3	-	2	411				AC006486.1_ENST00000378108.1_5'Flank|GSK3A_ENST00000398249.4_Silent_p.I5I|AC006486.9_ENST00000594664.1_Intron	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				GGGGATACACGATCCACTGAC	0.602																																																	0								ENSG00000105723						75.0	64.0	68.0					19																	42744317		2203	4300	6503	GSK3A	SO:0001627	intron_variant	0			-	HGNC		CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.284-23C>T	19.37:g.42744317G>A		Somatic	0	90	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	82	9.89	O14959	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I5	ENST00000222330.3	37	c.15	CCDS12599.1	19																																																																																			-	NULL		0.602	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	protein_coding	OTTHUMT00000319782.1	G		-		42744317	-1	no_errors	ENST00000398249	ensembl	human	novel	74_37	silent	SNP	0.000	A
LOXHD1	125336	genome.wustl.edu	37	18	44102227	44102227	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr18:44102227G>A	ENST00000398722.4	-	25	4087	c.4088C>T	c.(4087-4089)gCg>gTg	p.A1363V	LOXHD1_ENST00000582408.1_Missense_Mutation_p.A530V|LOXHD1_ENST00000536736.1_Missense_Mutation_p.A1641V|LOXHD1_ENST00000300591.6_Missense_Mutation_p.A530V|LOXHD1_ENST00000579038.1_Missense_Mutation_p.A434V|LOXHD1_ENST00000441893.2_Missense_Mutation_p.A574V|LOXHD1_ENST00000441551.2_Missense_Mutation_p.A1435V			Q8IVV2	LOXH1_HUMAN	lipoxygenase homology domains 1	1363	PLAT 10. {ECO:0000255|PROSITE- ProRule:PRU00152}.				calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|sensory perception of sound (GO:0007605)	membrane (GO:0016020)|stereocilium (GO:0032420)	calcium channel activity (GO:0005262)	p.A1363V(1)|p.A1641V(1)		NS(3)|autonomic_ganglia(1)|breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|pancreas(1)|prostate(4)|skin(4)|stomach(1)	36						GTCAGTGGCCGCGTCCTTGTG	0.547																																																	2	Substitution - Missense(2)	prostate(2)						ENSG00000167210						81.0	75.0	77.0					18																	44102227		692	1591	2283	LOXHD1	SO:0001583	missense	0			-	HGNC	AK057232	CCDS45861.1, CCDS45862.1, CCDS54184.1	18q21.1	2009-09-11			ENSG00000167210	ENSG00000167210			26521	protein-coding gene	gene with protein product		613072	"""deafness, autosomal recessive 77"""	DFNB77		19732867	Standard	NM_144612		Approved	FLJ32670, LH2D1	uc010xcw.1	Q8IVV2	OTTHUMG00000132644	ENST00000398722.4:c.4088C>T	18.37:g.44102227G>A	ENSP00000381707:p.Ala1363Val	Somatic	0	36	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	33	15.38	B7WNN3|B7WNT1|B7WPI9|Q6ZRY7|Q86WW9|Q96DL7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom	p.A1641V	ENST00000398722.4	37	c.4922		18	.	.	.	.	.	.	.	.	.	.	G	8.615	0.889987	0.17540	.	.	ENSG00000167210	ENST00000300591;ENST00000398722;ENST00000536736;ENST00000441893;ENST00000335730	D;D;D;T	0.82526	-1.62;-1.62;-1.62;0.35	5.01	5.01	0.66863	Lipoxygenase, LH2 (4);Lipase/lipooxygenase, PLAT/LH2 (1);	0.059464	0.64402	D	0.000003	D	0.91300	0.7257	M	0.84948	2.725	0.30526	N	0.767906	D;D;D;D	0.89917	1.0;0.976;0.998;1.0	D;P;P;D	0.80764	0.994;0.521;0.852;0.993	D	0.89704	0.3907	10	0.66056	D	0.02	.	14.3243	0.66509	0.0:0.1483:0.8517:0.0	.	1641;574;1363;1363	F5GZB4;F8WA52;Q8IVV2-2;Q8IVV2	.;.;.;LOXH1_HUMAN	V	530;1363;1641;574;1363	ENSP00000300591:A530V;ENSP00000381707:A1363V;ENSP00000444586:A1641V;ENSP00000409062:A574V	ENSP00000300591:A530V	A	-	2	0	LOXHD1	42356225	1.000000	0.71417	0.214000	0.23707	0.222000	0.24845	5.146000	0.64845	2.497000	0.84241	0.555000	0.69702	GCG	-	superfamily_Lipase_LipOase		0.547	LOXHD1-201	KNOWN	basic	protein_coding	LOXHD1	protein_coding		G	NM_144612	-		44102227	-1	no_errors	ENST00000536736	ensembl	human	known	74_37	missense	SNP	0.727	A
TBC1D12	23232	genome.wustl.edu	37	10	96282101	96282101	+	Splice_Site	SNP	A	A	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr10:96282101A>T	ENST00000225235.4	+	11	2001	c.1891A>T	c.(1891-1893)Atg>Ttg	p.M631L	TBC1D12_ENST00000485048.1_Intron	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	631	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TAATCTTTAGATGTTGAAATA	0.249																																																	0								ENSG00000108239						8.0	7.0	7.0					10																	96282101		1634	3664	5298	TBC1D12	SO:0001630	splice_region_variant	0			-	HGNC	AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.1891-1A>T	10.37:g.96282101A>T		Somatic	0	29	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	33	10.81	Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.M631L	ENST00000225235.4	37	c.1891	CCDS41553.1	10	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606631	0.46527	.	.	ENSG00000108239	ENST00000225235	T	0.15952	2.38	5.49	5.49	0.81192	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.28167	0.0695	L	0.33668	1.02	0.80722	D	1	D	0.55172	0.97	D	0.64410	0.925	T	0.01136	-1.1440	9	.	.	.	-15.4298	13.5936	0.61975	1.0:0.0:0.0:0.0	.	631	O60347	TBC12_HUMAN	L	631	ENSP00000225235:M631L	.	M	+	1	0	TBC1D12	96272091	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	8.956000	0.93066	2.304000	0.77564	0.528000	0.53228	ATG	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.249	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D12	protein_coding	OTTHUMT00000049482.2	A		-	Missense_Mutation	96282101	+1	no_errors	ENST00000225235	ensembl	human	known	74_37	missense	SNP	1.000	T
TUB	7275	genome.wustl.edu	37	11	8123044	8123044	+	Missense_Mutation	SNP	G	G	A	rs527582687		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr11:8123044G>A	ENST00000299506.2	+	12	1548	c.1399G>A	c.(1399-1401)Gtg>Atg	p.V467M	TUB_ENST00000534099.1_Missense_Mutation_p.V473M|TUB_ENST00000305253.4_Missense_Mutation_p.V522M	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	467					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGACTACATCGTGATGCAGTT	0.547													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20752	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000166402						180.0	147.0	158.0					11																	8123044		2201	4296	6497	TUB	SO:0001583	missense	0			-	HGNC	U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1399G>A	11.37:g.8123044G>A	ENSP00000299506:p.Val467Met	Somatic	0	129	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	108	10.74	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.V522M	ENST00000299506.2	37	c.1564	CCDS7787.1	11	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313985	0.81358	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.97480	-4.4;-4.4;-4.4	5.08	5.08	0.68730	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.98635	0.9543	M	0.86864	2.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.993;0.997;0.994	D	0.99737	1.1014	10	0.87932	D	0	-16.4249	18.8214	0.92099	0.0:0.0:1.0:0.0	.	473;467;522	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	M	473;522;467	ENSP00000434400:V473M;ENSP00000305426:V522M;ENSP00000299506:V467M	ENSP00000299506:V467M	V	+	1	0	TUB	8079620	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.745000	0.74860	2.519000	0.84933	0.591000	0.81541	GTG	-	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C		0.547	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	protein_coding	OTTHUMT00000385823.1	G	NM_003320	-		8123044	+1	no_errors	ENST00000305253	ensembl	human	known	74_37	missense	SNP	1.000	A
ZNF85	7639	genome.wustl.edu	37	19	21132245	21132245	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:21132245A>G	ENST00000328178.8	+	4	1038	c.925A>G	c.(925-927)Act>Gct	p.T309A	ZNF85_ENST00000601023.1_Missense_Mutation_p.T250A|ZNF85_ENST00000345030.6_Missense_Mutation_p.T276A	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	309					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)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAAAATTCATACTGGAGAGAA	0.363																																																	0								ENSG00000105750						36.0	39.0	38.0					19																	21132245		2201	4300	6501	ZNF85	SO:0001583	missense	0			-	HGNC	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.925A>G	19.37:g.21132245A>G	ENSP00000329793:p.Thr309Ala	Somatic	0	18	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	17	45.16	B9ZVP4|Q6NVI0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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.T309A	ENST00000328178.8	37	c.925	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	8.506	0.865461	0.17250	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.26518	1.73;1.73	1.35	1.35	0.21983	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.15998	0.0385	N	0.11845	0.185	0.80722	D	1	B;B;B	0.26775	0.031;0.005;0.159	B;B;B	0.36418	0.01;0.006;0.224	T	0.09465	-1.0673	9	0.52906	T	0.07	.	7.5498	0.27790	1.0:0.0:0.0:0.0	.	276;250;309	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	A	309;276;184	ENSP00000329793:T309A;ENSP00000342340:T276A	ENSP00000329793:T309A	T	+	1	0	ZNF85	20924085	0.987000	0.35691	0.264000	0.24511	0.544000	0.35116	3.538000	0.53597	0.569000	0.29329	0.379000	0.24179	ACT	-	pfscan_Znf_C2H2		0.363	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	protein_coding	OTTHUMT00000463430.1	A	NM_003429	-		21132245	+1	no_errors	ENST00000328178	ensembl	human	known	74_37	missense	SNP	1.000	G
GBGT1	26301	genome.wustl.edu	37	9	136030486	136030486	+	Intron	SNP	G	G	A	rs377562827		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr9:136030486G>A	ENST00000372040.3	-	6	671				GBGT1_ENST00000372038.3_Intron|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Intron|GBGT1_ENST00000372043.3_Intron|RALGDS_ENST00000542690.1_Intron	NM_001282629.1	NP_001269558.1	Q8N5D6	GBGT1_HUMAN	globoside alpha-1,3-N-acetylgalactosaminyltransferase 1						glycolipid biosynthetic process (GO:0009247)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	globoside alpha-N-acetylgalactosaminyltransferase activity (GO:0047277)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		CTGTGTGCACGTCTGGTCTGG	0.587																																																	0								ENSG00000148288																																			GBGT1	SO:0001627	intron_variant	0			-	HGNC	AY358175	CCDS6960.1, CCDS65175.1, CCDS65176.1	9q34.13-q34.3	2014-07-18			ENSG00000148288	ENSG00000148288		"""Glycosyltransferase family 6 domain containing"""	20460	protein-coding gene	gene with protein product	"""Forssman glycolipid synthetase (FS)"", ""Forssman synthetase"""	606074				10506200, 8855242	Standard	NM_021996		Approved	UDP-GalNAc, A3GALNT, MGC44848, FS		Q8N5D6	OTTHUMG00000020853	ENST00000372040.3:c.359+78C>T	9.37:g.136030486G>A		Somatic	0	74	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	56	20.00	A8K633|B2RA95|B7Z8S5|Q45F07|Q5T7U9|Q5T7V1|Q8N2K4|Q9UKI5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000372040.3	37	NULL	CCDS6960.1	9																																																																																			-	-		0.587	GBGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBGT1	protein_coding	OTTHUMT00000054815.1	G	NM_021996	-		136030486	-1	no_errors	ENST00000470431	ensembl	human	known	74_37	rna	SNP	0.001	A
TLN2	83660	genome.wustl.edu	37	15	63097816	63097816	+	Silent	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr15:63097816C>T	ENST00000561311.1	+	50	6725	c.6495C>T	c.(6493-6495)gaC>gaT	p.D2165D	TLN2_ENST00000306829.6_Silent_p.D2165D			Q9Y4G6	TLN2_HUMAN	talin 2	2165					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AGTCAAAAGACGTACCTGAAA	0.423																																																	0								ENSG00000171914						51.0	47.0	48.0					15																	63097816		2203	4300	6503	TLN2	SO:0001819	synonymous_variant	0			-	HGNC	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.6495C>T	15.37:g.63097816C>T		Somatic	0	46	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	A6NLB8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom	p.D2165	ENST00000561311.1	37	c.6495	CCDS32261.1	15																																																																																			-	NULL		0.423	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN2	protein_coding	OTTHUMT00000257878.2	C		-		63097816	+1	no_errors	ENST00000306829	ensembl	human	known	74_37	silent	SNP	0.000	T
SIGLEC1	6614	genome.wustl.edu	37	20	3672652	3672652	+	Missense_Mutation	SNP	G	G	A	rs200539652		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr20:3672652G>A	ENST00000344754.4	-	16	4227	c.4228C>T	c.(4228-4230)Cgg>Tgg	p.R1410W	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1410W	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1410	Ig-like C2-type 14.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						ACCTGCAGCCGTAGGGCGTTT	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		22240	0.0		0.001	False		,,,				2504	0.0																0								ENSG00000088827						55.0	42.0	46.0					20																	3672652		2203	4300	6503	SIGLEC1	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.4228C>T	20.37:g.3672652G>A	ENSP00000341141:p.Arg1410Trp	Somatic	0	80	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	60	11.59	Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R1410W	ENST00000344754.4	37	c.4228	CCDS13060.1	20	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	13.45|13.45	2.239977|2.239977	0.39598|0.39598	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000344754;ENST00000202578|ENST00000419548	T;T|.	0.74947|.	-0.89;-0.89|.	5.5|5.5	1.17|1.17	0.20885|0.20885	Immunoglobulin-like fold (1);|.	0.279293|.	0.19258|.	N|.	0.118745|.	T|T	0.50548|0.50548	0.1622|0.1622	M|M	0.73962|0.73962	2.25|2.25	0.31455|0.31455	N|N	0.670265|0.670265	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.83275|.	0.996;0.961|.	T|T	0.54296|0.54296	-0.8315|-0.8315	10|5	0.37606|.	T|.	0.19|.	.|.	4.4292|4.4292	0.11518|0.11518	0.1719:0.0:0.4818:0.3463|0.1719:0.0:0.4818:0.3463	.|.	1410;1410|.	Q9BZZ2;Q9BZZ2-3|.	SN_HUMAN;.|.	W|M	1410|223	ENSP00000341141:R1410W;ENSP00000202578:R1410W|.	ENSP00000202578:R1410W|.	R|T	-|-	1|2	2|0	SIGLEC1|SIGLEC1	3620652|3620652	0.000000|0.000000	0.05858|0.05858	0.996000|0.996000	0.52242|0.52242	0.010000|0.010000	0.07245|0.07245	-0.200000|-0.200000	0.09478|0.09478	-0.003000|-0.003000	0.14444|0.14444	0.655000|0.655000	0.94253|0.94253	CGG|ACG	-	smart_Ig_sub,smart_Ig_sub2		0.602	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	protein_coding	OTTHUMT00000077761.2	G	NM_023068	rs200539652		3672652	-1	no_errors	ENST00000344754	ensembl	human	known	74_37	missense	SNP	0.993	A
PCDH1	5097	genome.wustl.edu	37	5	141248661	141248661	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr5:141248661G>T	ENST00000394536.3	-	2	515	c.376C>A	c.(376-378)Cag>Aag	p.Q126K	PCDH1_ENST00000503492.1_Missense_Mutation_p.Q126K|PCDH1_ENST00000456271.1_Missense_Mutation_p.Q126K|PCDH1_ENST00000511044.1_5'Flank|PCDH1_ENST00000536585.1_Missense_Mutation_p.Q104K|PCDH1_ENST00000287008.3_Missense_Mutation_p.Q126K	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	126	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		CCAGGGAGCTGGTTCTGGCAT	0.582																																					Ovarian(132;1609 1739 4190 14731 45037)												0								ENSG00000156453						112.0	107.0	109.0					5																	141248661		2203	4300	6503	PCDH1	SO:0001583	missense	0			-	HGNC	AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.376C>A	5.37:g.141248661G>T	ENSP00000378043:p.Gln126Lys	Somatic	0	39	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	23	25.81	Q8IUP2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q126K	ENST00000394536.3	37	c.376	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972506	0.53614	.	.	ENSG00000156453	ENST00000503492;ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585;ENST00000514773	T;T;T;T;T;T;T	0.26373	1.74;1.74;1.74;1.74;1.74;1.74;1.74	4.21	4.21	0.49690	Cadherin, N-terminal (1);Cadherin (2);	0.143969	0.32314	N	0.006261	T	0.17619	0.0423	N	0.08118	0	0.32673	N	0.516591	B;B	0.28801	0.223;0.11	B;B	0.36885	0.235;0.151	T	0.24657	-1.0154	10	0.46703	T	0.11	.	14.4287	0.67233	0.0:0.0:1.0:0.0	.	126;126	Q08174;Q08174-2	PCDH1_HUMAN;.	K	126;126;126;126;137;104;104	ENSP00000424667:Q126K;ENSP00000287008:Q126K;ENSP00000378043:Q126K;ENSP00000403497:Q126K;ENSP00000350122:Q137K;ENSP00000438825:Q104K;ENSP00000424163:Q104K	ENSP00000287008:Q126K	Q	-	1	0	PCDH1	141228845	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.132000	0.57977	2.339000	0.79563	0.555000	0.69702	CAG	-	pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin		0.582	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	protein_coding	OTTHUMT00000251862.1	G	NM_032420	-		141248661	-1	no_errors	ENST00000287008	ensembl	human	known	74_37	missense	SNP	1.000	T
ARHGAP21	57584	genome.wustl.edu	37	10	24874948	24874948	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr10:24874948G>T	ENST00000396432.2	-	26	4756	c.4270C>A	c.(4270-4272)Ccg>Acg	p.P1424T	ARHGAP21_ENST00000320481.6_3'UTR	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1423					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTTTCTTTCGGCTTCTTCCTC	0.443																																																	0								ENSG00000107863						80.0	75.0	77.0					10																	24874948		2203	4300	6503	ARHGAP21	SO:0001583	missense	0			-	HGNC	AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.4270C>A	10.37:g.24874948G>T	ENSP00000379709:p.Pro1424Thr	Somatic	0	82	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	74	9.76	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.P1424T	ENST00000396432.2	37	c.4270	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	G	10.66	1.411411	0.25465	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.09350	2.99	4.98	2.77	0.32553	.	0.451013	0.25938	N	0.027323	T	0.06917	0.0176	N	0.12961	0.28	0.80722	D	1	B	0.12013	0.005	B	0.09377	0.004	T	0.28396	-1.0045	10	0.25106	T	0.35	.	14.4227	0.67196	0.0:0.0:0.6648:0.3352	.	1423	Q5T5U3	RHG21_HUMAN	T	1424;873	ENSP00000379709:P1424T	ENSP00000379709:P1424T	P	-	1	0	ARHGAP21	24914954	0.998000	0.40836	0.991000	0.47740	0.972000	0.66771	0.653000	0.24902	1.190000	0.43042	0.655000	0.94253	CCG	-	NULL		0.443	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	protein_coding	OTTHUMT00000047229.4	G	NM_020824	-		24874948	-1	no_errors	ENST00000396432	ensembl	human	known	74_37	missense	SNP	0.795	T
MICAL2	9645	genome.wustl.edu	37	11	12231105	12231105	+	Silent	SNP	C	C	T	rs531668044	byFrequency	TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr11:12231105C>T	ENST00000256194.4	+	6	939	c.651C>T	c.(649-651)gaC>gaT	p.D217D	MICAL2_ENST00000379612.3_Silent_p.D217D|MICAL2_ENST00000527546.1_Silent_p.D217D|MICAL2_ENST00000342902.5_Silent_p.D217D|MICAL2_ENST00000537344.1_Silent_p.D217D	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	217	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TTGAGTTTGACGTCATCATTG	0.522													C|||	3	0.000599042	0.0	0.0	5008	,	,		20030	0.0		0.0	False		,,,				2504	0.0031																0								ENSG00000133816						159.0	147.0	151.0					11																	12231105		2201	4294	6495	MICAL2	SO:0001819	synonymous_variant	0			-	HGNC	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.651C>T	11.37:g.12231105C>T		Somatic	0	48	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.D217	ENST00000256194.4	37	c.651	CCDS7809.1	11																																																																																			-	prints_Rng_hydrolase-like		0.522	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	protein_coding	OTTHUMT00000385993.1	C	NM_014632	-		12231105	+1	no_errors	ENST00000256194	ensembl	human	known	74_37	silent	SNP	0.995	T
TECTA	7007	genome.wustl.edu	37	11	120989346	120989346	+	Silent	SNP	C	C	T	rs560630226		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr11:120989346C>T	ENST00000392793.1	+	7	1393	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A	TECTA_ENST00000264037.2_Silent_p.A374A			O75443	TECTA_HUMAN	tectorin alpha	374	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGTTCAGCCGTCTCCTGGG	0.537													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19390	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000109927						89.0	89.0	89.0					11																	120989346		2203	4299	6502	TECTA	SO:0001819	synonymous_variant	0			-	HGNC	AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1122C>T	11.37:g.120989346C>T		Somatic	0	58	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	40	13.04		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.A374	ENST00000392793.1	37	c.1122	CCDS8434.1	11																																																																																			-	pfam_VWF_type-D,smart_VWF_type-D		0.537	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	protein_coding	OTTHUMT00000313850.1	C	NM_005422	-		120989346	+1	no_errors	ENST00000264037	ensembl	human	known	74_37	silent	SNP	0.012	T
LOC100996415	100996415	genome.wustl.edu	37	22	20341941	20341941	+	RNA	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr22:20341941C>T	ENST00000454636.1	+	0	634				XXbac-B33L19.6_ENST00000429995.1_lincRNA	NR_038388.1																						GCATCGCTAACGAGGCCGCCG	0.632																																																	0								ENSG00000188424																																			XXbac-B33L19.3			0			-	Clone_based_vega_gene																													22.37:g.20341941C>T		Somatic	0	127	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	110	19.71		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000454636.1	37	NULL		22																																																																																			-	-		0.632	XXbac-B33L19.3-001	KNOWN	not_best_in_genome_evidence|basic	antisense	LOC100996415	antisense	OTTHUMT00000319010.2	C		-		20341941	+1	no_errors	ENST00000454636	ensembl	human	known	74_37	rna	SNP	0.001	T
ARHGAP18	93663	genome.wustl.edu	37	6	129905211	129905211	+	Missense_Mutation	SNP	G	G	A	rs137871841	byFrequency	TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr6:129905211G>A	ENST00000368149.2	-	13	1848	c.1760C>T	c.(1759-1761)tCg>tTg	p.S587L	ARHGAP18_ENST00000463225.1_5'UTR	NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GGAAACTTTCGAAAGATGGGG	0.468													G|||	4	0.000798722	0.0023	0.0014	5008	,	,		19210	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000146376	G	LEU/SER	5,4401	9.9+/-24.2	0,5,2198	150.0	132.0	138.0		1760	5.7	1.0	6	dbSNP_134	138	3,8597	3.0+/-9.4	0,3,4297	yes	missense	ARHGAP18	NM_033515.2	145	0,8,6495	AA,AG,GG		0.0349,0.1135,0.0615	benign	587/664	129905211	8,12998	2203	4300	6503	ARHGAP18	SO:0001583	missense	0			-	HGNC	AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.1760C>T	6.37:g.129905211G>A	ENSP00000357131:p.Ser587Leu	Somatic	0	50	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	48	9.43		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S587L	ENST00000368149.2	37	c.1760	CCDS34535.1	6	.	.	.	.	.	.	.	.	.	.	G	15.60	2.882300	0.51908	0.001135	3.49E-4	ENSG00000146376	ENST00000368149;ENST00000275189	.	.	.	5.73	5.73	0.89815	.	0.385355	0.29995	N	0.010669	T	0.42630	0.1211	L	0.48642	1.525	0.42793	D	0.993902	B	0.32781	0.384	B	0.23150	0.044	T	0.39272	-0.9622	8	.	.	.	.	19.914	0.97034	0.0:0.0:1.0:0.0	.	587	Q8N392	RHG18_HUMAN	L	542;587	.	.	S	-	2	0	ARHGAP18	129946904	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.182000	0.65059	2.712000	0.92718	0.557000	0.71058	TCG	-	NULL		0.468	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP18	protein_coding	OTTHUMT00000042185.2	G	NM_033515	rs137871841		129905211	-1	no_errors	ENST00000368149	ensembl	human	known	74_37	missense	SNP	1.000	A
FAM135B	51059	genome.wustl.edu	37	8	139268947	139268947	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr8:139268947G>A	ENST00000395297.1	-	5	523	c.353C>T	c.(352-354)aCg>aTg	p.T118M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	118										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCACTGTCCGTAAAGTGCAG	0.458										HNSCC(54;0.14)																																							0								ENSG00000147724						106.0	102.0	103.0					8																	139268947		1973	4164	6137	FAM135B	SO:0001583	missense	0			-	HGNC	AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.353C>T	8.37:g.139268947G>A	ENSP00000378710:p.Thr118Met	Somatic	0	32	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	18	21.74	B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.T118M	ENST00000395297.1	37	c.353	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	G	24.8	4.569217	0.86439	.	.	ENSG00000147724	ENST00000395297;ENST00000160713	T	0.15834	2.39	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.45357	0.1338	M	0.79475	2.455	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.31613	-0.9937	10	0.46703	T	0.11	-10.4338	18.4074	0.90541	0.0:0.0:1.0:0.0	.	118	Q49AJ0	F135B_HUMAN	M	118	ENSP00000378710:T118M	ENSP00000160713:T118M	T	-	2	0	FAM135B	139338129	1.000000	0.71417	0.580000	0.28601	0.904000	0.53231	9.597000	0.98273	2.663000	0.90544	0.655000	0.94253	ACG	-	pfam_DUF3657		0.458	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	protein_coding	OTTHUMT00000313590.3	G	NM_015912	-		139268947	-1	no_errors	ENST00000395297	ensembl	human	known	74_37	missense	SNP	1.000	A
HDAC6	10013	genome.wustl.edu	37	X	48678568	48678568	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chrX:48678568C>T	ENST00000334136.5	+	23	2421	c.2243C>T	c.(2242-2244)cCg>cTg	p.P748L	HDAC6_ENST00000376619.2_Missense_Mutation_p.P748L|HDAC6_ENST00000444343.2_Missense_Mutation_p.P762L			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	748	Histone deacetylase 2.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|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)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CGGGGGGATCCGCTGGGGGGC	0.577																																					Pancreas(112;205 1675 2305 8976 15959)												0								ENSG00000094631						65.0	58.0	60.0					X																	48678568		2203	4300	6503	HDAC6	SO:0001583	missense	0			-	HGNC	AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.2243C>T	X.37:g.48678568C>T	ENSP00000334061:p.Pro748Leu	Somatic	0	55	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	46	13.21	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.P762L	ENST00000334136.5	37	c.2285	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	c	30	5.052108	0.93793	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619;ENST00000436813	T;T;T	0.72282	-0.64;-0.64;-0.64	5.25	5.25	0.73442	Histone deacetylase domain (2);	0.055422	0.64402	D	0.000001	D	0.82935	0.5145	M	0.73319	2.225	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;1.0	D	0.84894	0.0838	10	0.87932	D	0	-24.5302	15.0357	0.71744	0.0:1.0:0.0:0.0	.	738;111;396;748	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	L	762;748;748;748	ENSP00000398566:P762L;ENSP00000334061:P748L;ENSP00000365804:P748L	ENSP00000334061:P748L	P	+	2	0	HDAC6	48563512	1.000000	0.71417	0.871000	0.34182	0.947000	0.59692	6.809000	0.75211	2.432000	0.82394	0.597000	0.82753	CCG	-	pfam_His_deacetylse_dom		0.577	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	protein_coding	OTTHUMT00000083394.2	C	NM_006044	-		48678568	+1	no_errors	ENST00000444343	ensembl	human	known	74_37	missense	SNP	0.999	T
FTCD	10841	genome.wustl.edu	37	21	47571484	47571484	+	Silent	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr21:47571484G>A	ENST00000291670.5	-	5	667	c.624C>T	c.(622-624)cgC>cgT	p.R208R	FTCD_ENST00000355384.2_Silent_p.R208R|FTCD-AS1_ENST00000446649.1_RNA|FTCD_ENST00000397746.3_Silent_p.R208R|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Silent_p.R208R|FTCD_ENST00000397748.1_Silent_p.R208R|FTCD_ENST00000359679.2_Silent_p.R208R	NM_006657.2	NP_006648.1	O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	208	Formiminotransferase C-subdomain. {ECO:0000250}.				cellular nitrogen compound metabolic process (GO:0034641)|cytoskeleton organization (GO:0007010)|folic acid-containing compound metabolic process (GO:0006760)|histidine catabolic process (GO:0006548)|histidine catabolic process to glutamate and formamide (GO:0019556)|histidine catabolic process to glutamate and formate (GO:0019557)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	folic acid binding (GO:0005542)|formimidoyltetrahydrofolate cyclodeaminase activity (GO:0030412)|glutamate formimidoyltransferase activity (GO:0030409)			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	Tetrahydrofolic acid(DB00116)	GGTCCTTCCCGCGGCCCTGCT	0.652																																																	0								ENSG00000160282						60.0	64.0	63.0					21																	47571484		2203	4299	6502	FTCD	SO:0001819	synonymous_variant	0			-	HGNC	U91541	CCDS13731.1	21q22.3	2013-06-10	2013-06-10		ENSG00000160282	ENSG00000160282	2.1.2.5, 4.3.1.4		3974	protein-coding gene	gene with protein product		606806	"""formiminotransferase cyclodeaminase"""			10029623, 10773664	Standard	NM_006657		Approved		uc002zif.3	O95954	OTTHUMG00000090488	ENST00000291670.5:c.624C>T	21.37:g.47571484G>A		Somatic	0	73	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	60	9.09	B9EGD0|Q86V03|Q9HCT4|Q9HCT5|Q9HCT6|Q9UHJ2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Formiminotransferase_N,pfam_Formiminotransferase_C,pfam_Cyclodeamin/CycHdrlase,superfamily_FormiminoTrfase_N/C_subdom,superfamily_Cyclodeamin/CycHdrlase,tigrfam_Formiminotransferase_cat	p.R208	ENST00000291670.5	37	c.624	CCDS13731.1	21																																																																																			-	pfam_Formiminotransferase_C,superfamily_FormiminoTrfase_N/C_subdom,tigrfam_Formiminotransferase_cat		0.652	FTCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FTCD	protein_coding	OTTHUMT00000206962.1	G	NM_006657	-		47571484	-1	no_errors	ENST00000359679	ensembl	human	known	74_37	silent	SNP	0.592	A
CSPG4	1464	genome.wustl.edu	37	15	75982848	75982848	+	Silent	SNP	G	G	A	rs554682228	byFrequency	TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr15:75982848G>A	ENST00000308508.5	-	3	650	c.558C>T	c.(556-558)ccC>ccT	p.P186P		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	186	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CATGCACATCGGGGGTCAGAG	0.657													G|||	13	0.00259585	0.0	0.0	5008	,	,		18040	0.0		0.0	False		,,,				2504	0.0133																0								ENSG00000173546						38.0	42.0	41.0					15																	75982848		2117	4114	6231	CSPG4	SO:0001819	synonymous_variant	0			-	HGNC	X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.558C>T	15.37:g.75982848G>A		Somatic	0	110	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	87	17.14	D3DW77|Q92675	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.P186	ENST00000308508.5	37	c.558	CCDS10284.1	15																																																																																			-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G		0.657	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	protein_coding	OTTHUMT00000286472.1	G	NM_001897	-		75982848	-1	no_errors	ENST00000308508	ensembl	human	known	74_37	silent	SNP	0.000	A
GRIN3B	116444	genome.wustl.edu	37	19	1009551	1009577	+	In_Frame_Del	DEL	GCCCCCGCGGAGGCCCCACCACACTCT	GCCCCCGCGGAGGCCCCACCACACTCT	-	rs573396231|rs58448123|rs142516571	byFrequency	TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	GCCCCCGCGGAGGCCCCACCACACTCT	GCCCCCGCGGAGGCCCCACCACACTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr19:1009551_1009577delGCCCCCGCGGAGGCCCCACCACACTCT	ENST00000234389.3	+	9	3101_3127	c.3082_3108delGCCCCCGCGGAGGCCCCACCACACTCT	c.(3082-3108)gcccccgcggaggccccaccacactctdel	p.APAEAPPHS1028del		NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	1028					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGCCAGAGCGGCCCCCGCGGAGGCCCCACCACACTCTGGCCGACCGG	0.692														895	0.178714	0.1959	0.1744	5008	,	,		11397	0.1042		0.2167	False		,,,				2504	0.1963																0								ENSG00000116032			362,1598		137,88,755						-8.8	0.0		dbSNP_129	2	883,3849		318,247,1801	no	coding	GRIN3B	NM_138690.1		455,335,2556	A1A1,A1R,RR		18.6602,18.4694,18.6043				1245,5447				GRIN3B	SO:0001651	inframe_deletion	0				HGNC		CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.3082_3108delGCCCCCGCGGAGGCCCCACCACACTCT	19.37:g.1009551_1009577delGCCCCCGCGGAGGCCCCACCACACTCT	ENSP00000234389:p.Ala1028_Ser1036del	Somatic	NA	NA	NA		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q5EAK7|Q7RTW9	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.APAEAPPHS1028in_frame_del	ENST00000234389.3	37	c.3082_3108	CCDS32861.1	19																																																																																			-	NULL		0.692	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3B	protein_coding	OTTHUMT00000103923.2	GCCCCCGCGGAGGCCCCACCACACTCT				1009577	+1	no_errors	ENST00000234389	ensembl	human	known	74_37	in_frame_del	DEL	0.060:0.029:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.001:0.001:0.001:0.001:0.000:0.008:0.007:0.002:0.000:0.000:0.000:0.000:0.004:0.002:0.001:0.000:0.000:0.000	-
EPYC	1833	genome.wustl.edu	37	12	91363850	91363850	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr12:91363850G>A	ENST00000261172.3	-	6	861	c.769C>T	c.(769-771)Cca>Tca	p.P257S		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	257					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AGATTTTCTGGGAGTGGCAGA	0.468																																																	0								ENSG00000083782						217.0	220.0	219.0					12																	91363850		2203	4300	6503	EPYC	SO:0001583	missense	0			-	HGNC	AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.769C>T	12.37:g.91363850G>A	ENSP00000261172:p.Pro257Ser	Somatic	0	91	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	102	15.00	A8K3M7|Q8NEJ5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.P257S	ENST00000261172.3	37	c.769	CCDS31870.1	12	.	.	.	.	.	.	.	.	.	.	G	18.43	3.623256	0.66901	.	.	ENSG00000083782	ENST00000261172	T	0.02395	4.31	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.18509	0.0444	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.00351	-1.1796	10	0.72032	D	0.01	.	19.0153	0.92892	0.0:0.0:1.0:0.0	.	257	Q99645	EPYC_HUMAN	S	257	ENSP00000261172:P257S	ENSP00000261172:P257S	P	-	1	0	EPYC	89887981	1.000000	0.71417	1.000000	0.80357	0.148000	0.21650	9.281000	0.95811	2.491000	0.84063	0.467000	0.42956	CCA	-	smart_Leu-rich_rpt_typical-subtyp		0.468	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPYC	protein_coding	OTTHUMT00000407146.2	G	NM_004950	-		91363850	-1	no_errors	ENST00000261172	ensembl	human	known	74_37	missense	SNP	1.000	A
SYT4	6860	genome.wustl.edu	37	18	40850433	40850433	+	Missense_Mutation	SNP	C	C	T	rs149020215	byFrequency	TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr18:40850433C>T	ENST00000255224.3	-	4	1519	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	SYT4_ENST00000590752.1_Missense_Mutation_p.R366Q|SYT4_ENST00000586678.1_5'UTR	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	384	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)	p.R384Q(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TACCTCATTTCGGGACCCCCT	0.458																																					NSCLC(85;81 1419 2855 22820 35912)												2	Substitution - Missense(2)	skin(2)						ENSG00000132872	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	120.0	118.0	119.0		1151	2.9	1.0	18	dbSNP_134	119	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SYT4	NM_020783.3	43	0,3,6500	TT,TC,CC		0.0233,0.0227,0.0231	possibly-damaging	384/426	40850433	3,13003	2203	4300	6503	SYT4	SO:0001583	missense	0			-	HGNC	BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.1151G>A	18.37:g.40850433C>T	ENSP00000255224:p.Arg384Gln	Somatic	0	43	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B4DEU3|Q9P2K4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin	p.R384Q	ENST00000255224.3	37	c.1151	CCDS11922.1	18	.	.	.	.	.	.	.	.	.	.	C	13.55	2.269255	0.40095	2.27E-4	2.33E-4	ENSG00000132872	ENST00000255224;ENST00000442661	T	0.72942	-0.7	5.58	2.87	0.33458	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.178457	0.46758	N	0.000275	T	0.64778	0.2629	L	0.58510	1.815	0.48135	D	0.999591	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.001	T	0.59773	-0.7391	10	0.54805	T	0.06	.	10.7993	0.46478	0.0:0.7959:0.0:0.2041	.	366;384	B4DEU3;Q9H2B2	.;SYT4_HUMAN	Q	384;189	ENSP00000255224:R384Q	ENSP00000255224:R384Q	R	-	2	0	SYT4	39104431	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.302000	0.33459	0.338000	0.23692	-0.136000	0.14681	CGA	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.458	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	protein_coding	OTTHUMT00000255851.2	C	NM_020783	rs149020215		40850433	-1	no_errors	ENST00000255224	ensembl	human	known	74_37	missense	SNP	1.000	T
SLC16A5	9121	genome.wustl.edu	37	17	73096768	73096768	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr17:73096768C>T	ENST00000450736.2	+	4	1425	c.1010C>T	c.(1009-1011)gCg>gTg	p.A337V	SLC16A5_ENST00000538213.2_Missense_Mutation_p.A377V|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A337V|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A337V			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	337					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	TACTGCCTGGCGTACAGCGTG	0.592																																																	0								ENSG00000170190						370.0	318.0	335.0					17																	73096768		2203	4300	6503	SLC16A5	SO:0001583	missense	0			-	HGNC	U59299	CCDS11713.1	17q25.1	2013-07-18	2013-07-18		ENSG00000170190	ENSG00000170190		"""Solute carriers"""	10926	protein-coding gene	gene with protein product		603879	"""solute carrier family 16 (monocarboxylic acid transporters), member 5"", ""solute carrier family 16, member 5 (monocarboxylic acid transporter 6)"""			9425115	Standard	NM_004695		Approved	MCT5, MCT6	uc002jmr.4	O15375	OTTHUMG00000179277	ENST00000450736.2:c.1010C>T	17.37:g.73096768C>T	ENSP00000390564:p.Ala337Val	Somatic	0	50	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	39	25.00	B4E288	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt	p.A337V	ENST00000450736.2	37	c.1010	CCDS11713.1	17	.	.	.	.	.	.	.	.	.	.	C	6.834	0.523111	0.13066	.	.	ENSG00000170190	ENST00000329783;ENST00000450736;ENST00000538213	T;T;T	0.79653	-1.29;-1.29;-1.29	4.72	-0.355	0.12587	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.784752	0.12030	N	0.506064	T	0.42765	0.1217	N	0.00538	-1.39	0.20764	N	0.999851	B;B	0.11235	0.001;0.004	B;B	0.06405	0.001;0.002	T	0.41893	-0.9483	10	0.10902	T	0.67	.	4.803	0.13307	0.1276:0.2205:0.0:0.6518	.	377;337	B4E288;O15375	.;MOT6_HUMAN	V	337;337;377	ENSP00000330141:A337V;ENSP00000390564:A337V;ENSP00000440212:A377V	ENSP00000330141:A337V	A	+	2	0	SLC16A5	70608363	0.431000	0.25546	0.893000	0.35052	0.723000	0.41478	1.448000	0.35112	-0.297000	0.08934	-1.166000	0.01754	GCG	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt		0.592	SLC16A5-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SLC16A5	protein_coding	OTTHUMT00000445547.1	C	NM_004695	-		73096768	+1	no_errors	ENST00000329783	ensembl	human	known	74_37	missense	SNP	0.959	T
MAP2K1	5604	genome.wustl.edu	37	15	66784345	66784345	+	3'UTR	SNP	G	G	T			TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr15:66784345G>T	ENST00000307102.5	+	0	3105				SNAPC5_ENST00000395589.2_Intron|SNAPC5_ENST00000563480.2_Intron|CTD-3185P2.2_ENST00000602360.1_RNA|CTD-3185P2.1_ENST00000565387.1_RNA	NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1						activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|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)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	CCTACCTGGTGTGGGAGCTTT	0.498																																																	0								ENSG00000261351																																			CTD-3185P2.1	SO:0001624	3_prime_UTR_variant	0			-	Clone_based_vega_gene	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.*1392G>T	15.37:g.66784345G>T		Somatic	0	74	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000307102.5	37	NULL	CCDS10216.1	15																																																																																			-	-		0.498	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261351	protein_coding	OTTHUMT00000256906.4	G		-		66784345	-1	no_errors	ENST00000565387	ensembl	human	known	74_37	rna	SNP	0.000	T
RSAD1	55316	genome.wustl.edu	37	17	48562112	48562112	+	Missense_Mutation	SNP	C	C	T	rs375677855		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr17:48562112C>T	ENST00000258955.2	+	9	1304	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W		NM_018346.1	NP_060816.1	Q9HA92	RSAD1_HUMAN	radical S-adenosyl methionine domain containing 1	407					porphyrin-containing compound biosynthetic process (GO:0006779)	mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|coproporphyrinogen oxidase activity (GO:0004109)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CAGGGGTCTTCGGTGTTCCTG	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		17114	0.0		0.0	False		,,,				2504	0.001																0								ENSG00000136444	C	TRP/ARG	0,4406		0,0,2203	80.0	69.0	73.0		1219	4.7	1.0	17		73	1,8599	1.2+/-3.3	0,1,4299	no	missense	RSAD1	NM_018346.1	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	407/443	48562112	1,13005	2203	4300	6503	RSAD1	SO:0001583	missense	0			-	HGNC	AK002026	CCDS11569.1	17q21.33	2004-11-08			ENSG00000136444	ENSG00000136444			25634	protein-coding gene	gene with protein product						12477932	Standard	NM_018346		Approved	FLJ11164	uc002iqw.1	Q9HA92	OTTHUMG00000162126	ENST00000258955.2:c.1219C>T	17.37:g.48562112C>T	ENSP00000258955:p.Arg407Trp	Somatic	0	89	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	95	10.38	B4DMW0|Q53HV8|Q86VC4|Q9BRY7|Q9NUS7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel	p.R407W	ENST00000258955.2	37	c.1219	CCDS11569.1	17	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434114	0.83776	0.0	1.16E-4	ENSG00000136444	ENST00000258955	T	0.55588	0.51	5.76	4.74	0.60224	HemN, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	N	0.08118	0	0.52501	D	0.999952	D	0.89917	1.0	D	0.97110	1.0	T	0.62177	-0.6909	10	0.87932	D	0	-38.2165	14.0583	0.64784	0.2485:0.7515:0.0:0.0	.	407	Q9HA92	RSAD1_HUMAN	W	407	ENSP00000258955:R407W	ENSP00000258955:R407W	R	+	1	2	RSAD1	45917111	0.949000	0.32298	1.000000	0.80357	0.997000	0.91878	1.702000	0.37836	2.709000	0.92574	0.655000	0.94253	CGG	-	pfam_HemN_C_dom		0.607	RSAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD1	protein_coding	OTTHUMT00000367413.1	C	NM_018346	-		48562112	+1	no_errors	ENST00000258955	ensembl	human	known	74_37	missense	SNP	1.000	T
JAKMIP1	152789	genome.wustl.edu	37	4	6082016	6082016	+	Silent	SNP	C	C	T	rs150623866		TCGA-DX-A3M2-01A-21D-A228-09	TCGA-DX-A3M2-10A-01D-A22A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4817e957-b838-4898-8074-28a44c974f2b	37354b9e-6333-4411-a61c-a111fe74725a	g.chr4:6082016C>T	ENST00000282924.5	-	7	1610	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	JAKMIP1_ENST00000410077.2_Silent_p.A210A|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Silent_p.A375A|JAKMIP1_ENST00000409371.3_Silent_p.A210A|JAKMIP1_ENST00000409021.3_Silent_p.A375A	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	375	Mediates interaction with TYK2 and GABBR1.		A -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTTCAGAGACGCCTGCGCTG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19780	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000152969	C	,	0,4406		0,0,2203	81.0	68.0	73.0		1125,1125	-3.3	0.1	4	dbSNP_134	73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	JAKMIP1	NM_001099433.1,NM_144720.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	375/832,375/627	6082016	1,13005	2203	4300	6503	JAKMIP1	SO:0001819	synonymous_variant	0			-	HGNC	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.1125G>A	4.37:g.6082016C>T		Somatic	0	59	0.00		0.4600694108904314	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	46	24.59	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A375	ENST00000282924.5	37	c.1125	CCDS3385.1	4																																																																																			-	NULL		0.577	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP1	protein_coding	OTTHUMT00000246816.2	C	NM_144720	rs150623866		6082016	-1	no_errors	ENST00000409021	ensembl	human	known	74_37	silent	SNP	0.048	T
