#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
CTTNBP2	83992	genome.wustl.edu	37	7	117364695	117364695	+	Missense_Mutation	SNP	C	C	G			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr7:117364695C>G	ENST00000160373.3	-	19	4444	c.4353G>C	c.(4351-4353)gaG>gaC	p.E1451D		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1451					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGGCACCACTCTCTCCTTTCT	0.458																																																	0								ENSG00000077063						123.0	104.0	110.0					7																	117364695		2203	4300	6503	CTTNBP2	SO:0001583	missense	0			-	HGNC		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.4353G>C	7.37:g.117364695C>G	ENSP00000160373:p.Glu1451Asp	Somatic	0	33	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	31	41.51	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1451D	ENST00000160373.3	37	c.4353	CCDS5774.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.041|9.041	0.989754|0.989754	0.18966|0.18966	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|T	0.64438|0.68479	-0.1|-0.33	5.24|5.24	0.0279|0.0279	0.14156|0.14156	.|.	0.341470|0.341470	0.35525|0.35525	N|N	0.003152|0.003152	T|T	0.67748|0.67748	0.2926|0.2926	M|M	0.73962|0.73962	2.25|2.25	0.26204|0.26204	N|N	0.979407|0.979407	B|.	0.13594|.	0.008|.	B|.	0.16289|.	0.015|.	T|T	0.62238|0.62238	-0.6896|-0.6896	10|8	0.22706|0.72032	T|D	0.39|0.01	-3.6213|-3.6213	5.9488|5.9488	0.19234|0.19234	0.119:0.4648:0.0:0.4162|0.119:0.4648:0.0:0.4162	.|.	1451|.	Q8WZ74|.	CTTB2_HUMAN|.	D|Q	1451|939	ENSP00000160373:E1451D|ENSP00000389576:E939Q	ENSP00000160373:E1451D|ENSP00000389576:E939Q	E|E	-|-	3|1	2|0	CTTNBP2|CTTNBP2	117151931|117151931	0.010000|0.010000	0.17322|0.17322	0.993000|0.993000	0.49108|0.49108	0.638000|0.638000	0.38207|0.38207	-0.774000|-0.774000	0.04684|0.04684	0.058000|0.058000	0.16222|0.16222	-0.748000|-0.748000	0.03510|0.03510	GAG|GAG	-	NULL		0.458	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	protein_coding	OTTHUMT00000059201.4	C	NM_033427	-		117364695	-1	no_errors	ENST00000160373	ensembl	human	known	74_37	missense	SNP	0.743	G
POTEG	404785	genome.wustl.edu	37	14	19553472	19553472	+	Missense_Mutation	SNP	G	G	A	rs578121618	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr14:19553472G>A	ENST00000409832.3	+	1	108	c.56G>A	c.(55-57)gGt>gAt	p.G19D		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	19										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AAGCCATTTGGTCTCAGAAGC	0.597													G|||	2	0.000399361	0.0	0.0	5008	,	,		37626	0.0		0.0	False		,,,				2504	0.002																0								ENSG00000222036						3.0	4.0	4.0					14																	19553472		810	1962	2772	POTEG	SO:0001583	missense	0			-	HGNC		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.56G>A	14.37:g.19553472G>A	ENSP00000386971:p.Gly19Asp	Somatic	0	97	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	114	16.18	A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.G19D	ENST00000409832.3	37	c.56	CCDS32018.1	14	.	.	.	.	.	.	.	.	.	.	g	1.400	-0.578466	0.03854	.	.	ENSG00000222036	ENST00000409832	T	0.28255	1.62	0.436	0.436	0.16549	.	.	.	.	.	T	0.15046	0.0363	N	0.17082	0.46	0.09310	N	1	B	0.09022	0.002	B	0.12837	0.008	T	0.34204	-0.9838	8	0.11485	T	0.65	.	.	.	.	.	19	Q6S5H5	POTEG_HUMAN	D	19	ENSP00000386971:G19D	ENSP00000386971:G19D	G	+	2	0	POTEG	18623472	0.007000	0.16637	0.006000	0.13384	0.004000	0.04260	0.655000	0.24933	0.465000	0.27167	0.165000	0.16767	GGT	-	NULL		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEG	protein_coding	OTTHUMT00000408579.1	G	NM_001005356	-		19553472	+1	no_errors	ENST00000409832	ensembl	human	known	74_37	missense	SNP	0.007	A
ABCB5	340273	genome.wustl.edu	37	7	20725334	20725334	+	Missense_Mutation	SNP	G	G	A			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr7:20725334G>A	ENST00000404938.2	+	16	2537	c.1885G>A	c.(1885-1887)Gat>Aat	p.D629N	ABCB5_ENST00000258738.6_Missense_Mutation_p.D184N	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	629					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TAAAAAAGCTGATGAACAGAT	0.343																																																	0								ENSG00000004846						70.0	67.0	68.0					7																	20725334		2203	4300	6503	ABCB5	SO:0001583	missense	0			-	HGNC	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1885G>A	7.37:g.20725334G>A	ENSP00000384881:p.Asp629Asn	Somatic	0	47	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	46	17.86	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.D184N	ENST00000404938.2	37	c.550	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	G	8.146	0.786245	0.16189	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.82167	-1.58;-1.58	4.13	4.13	0.48395	.	0.535497	0.16485	N	0.212354	T	0.73869	0.3642	L	0.33093	0.98	0.37999	D	0.934173	B;B	0.10296	0.001;0.003	B;B	0.06405	0.002;0.002	T	0.69815	-0.5043	10	0.28530	T	0.3	.	12.2043	0.54342	0.0:0.0:1.0:0.0	.	629;184	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	N	629;184	ENSP00000384881:D629N;ENSP00000258738:D184N	ENSP00000258738:D184N	D	+	1	0	ABCB5	20691859	0.998000	0.40836	0.972000	0.41901	0.064000	0.16182	3.763000	0.55257	2.578000	0.87016	0.609000	0.83330	GAT	-	NULL		0.343	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	protein_coding	OTTHUMT00000326736.2	G	NM_178559	-		20725334	+1	no_errors	ENST00000258738	ensembl	human	known	74_37	missense	SNP	0.981	A
SCN9A	6335	genome.wustl.edu	37	2	167138319	167138319	+	Splice_Site	SNP	C	C	A			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr2:167138319C>A	ENST00000409435.1	-	12	1974		c.e12-1		AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Splice_Site|SCN9A_ENST00000375387.4_Splice_Site|SCN9A_ENST00000303354.6_Splice_Site			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit						behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TGGTCGTGCCCTAAAAAAAAA	0.333																																																	0								ENSG00000169432						104.0	98.0	100.0					2																	167138319		1827	4088	5915	SCN9A	SO:0001630	splice_region_variant	0			-	HGNC	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.1975-1G>T	2.37:g.167138319C>A		Somatic	0	35	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	31.11	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e12-1	ENST00000409435.1	37	c.1978-1	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239028	0.39598	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435;ENST00000454569;ENST00000452182	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.2245	0.98337	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN9A	166846565	1.000000	0.71417	1.000000	0.80357	0.055000	0.15305	7.248000	0.78268	2.861000	0.98227	0.650000	0.86243	.	-	-		0.333	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	protein_coding	OTTHUMT00000333639.1	C	NM_002977	-	Intron	167138319	-1	no_errors	ENST00000303354	ensembl	human	known	74_37	splice_site	SNP	1.000	A
GAPVD1	26130	genome.wustl.edu	37	9	128025963	128025989	+	Intron	DEL	CAGCACTCCATCTGTAGGTATGTCTGT	CAGCACTCCATCTGTAGGTATGTCTGT	-	rs551743640|rs71374244|rs143312600	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	CAGCACTCCATCTGTAGGTATGTCTGT	CAGCACTCCATCTGTAGGTATGTCTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr9:128025963_128025989delCAGCACTCCATCTGTAGGTATGTCTGT	ENST00000495955.1	+	1	92				GAPVD1_ENST00000469528.1_3'UTR|GAPVD1_ENST00000265956.4_Intron|GAPVD1_ENST00000470056.1_Intron|GAPVD1_ENST00000394084.1_Intron|GAPVD1_ENST00000394083.2_Intron|GAPVD1_ENST00000297933.6_Intron|GAPVD1_ENST00000394104.2_Intron|GAPVD1_ENST00000394105.2_Intron			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1						endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTAAGTGGCACAGCACTCCATCTGTAGGTATGTCTGTCAGCACTCCA	0.564														2105	0.420327	0.4516	0.3818	5008	,	,		19587	0.4454		0.3777	False		,,,				2504	0.4233																0								ENSG00000165219																																			GAPVD1	SO:0001627	intron_variant	0				HGNC		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.-199+1725CAGCACTCCATCTGTAGGTATGTCTGT>-	9.37:g.128025963_128025989delCAGCACTCCATCTGTAGGTATGTCTGT		Somatic	NA	NA	NA		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Splice_Site	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000495955.1	37	c.NULL		9																																																																																			-	-		0.564	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	GAPVD1	protein_coding	OTTHUMT00000355644.1	CAGCACTCCATCTGTAGGTATGTCTGT				128025989	+1	no_errors	ENST00000469528	ensembl	human	known	74_37	splice_site_del	DEL	1.000:1.000:1.000:1.000:1.000:0.999:0.996:0.980:0.970:0.963:0.961:0.959:0.952:0.948:0.947:0.950:0.961:0.966:0.966:0.969:0.974:0.982:0.984:0.985:0.984:0.985:0.993	-
GDPD5	81544	genome.wustl.edu	37	11	75152708	75152708	+	Silent	SNP	C	C	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr11:75152708C>T	ENST00000336898.3	-	13	2145	c.1308G>A	c.(1306-1308)gtG>gtA	p.V436V	GDPD5_ENST00000529721.1_Silent_p.V436V|GDPD5_ENST00000376282.3_Silent_p.V317V|GDPD5_ENST00000533805.1_Silent_p.V191V|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000526177.1_Silent_p.V298V|GDPD5_ENST00000533784.1_Silent_p.V317V	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	436	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						CCTGGCGGGACACCTGAGTGT	0.662																																																	0								ENSG00000158555						25.0	23.0	24.0					11																	75152708		2198	4291	6489	GDPD5	SO:0001819	synonymous_variant	0			-	HGNC	AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1308G>A	11.37:g.75152708C>T		Somatic	0	91	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	107	12.30	Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl	p.V436	ENST00000336898.3	37	c.1308	CCDS8238.1	11																																																																																			-	superfamily_PLC-like_Pdiesterase_TIM-brl		0.662	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDPD5	protein_coding	OTTHUMT00000384409.1	C	NM_030792	-		75152708	-1	no_errors	ENST00000336898	ensembl	human	known	74_37	silent	SNP	1.000	T
ABCB1	5243	genome.wustl.edu	37	7	87175278	87175278	+	Silent	SNP	G	G	A	rs201194764		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr7:87175278G>A	ENST00000265724.3	-	16	2205	c.1788C>T	c.(1786-1788)gaC>gaT	p.D596D	ABCB1_ENST00000543898.1_Silent_p.D532D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	596	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CAGCGATGACGTCAGCATTAC	0.403																																																	0								ENSG00000085563	G		0,4406		0,0,2203	151.0	132.0	139.0		1788	0.3	1.0	7		139	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ABCB1	NM_000927.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		596/1281	87175278	2,13004	2203	4300	6503	ABCB1	SO:0001819	synonymous_variant	0			-	HGNC	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1788C>T	7.37:g.87175278G>A		Somatic	0	21	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	19	40.62	A8K294|B5AK60|Q12755|Q14812	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.D596	ENST00000265724.3	37	c.1788	CCDS5608.1	7																																																																																			-	superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.403	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	protein_coding	OTTHUMT00000335444.2	G	NM_000927	rs201194764		87175278	-1	no_errors	ENST00000265724	ensembl	human	known	74_37	silent	SNP	0.998	A
OS9	10956	genome.wustl.edu	37	12	58112779	58112779	+	Missense_Mutation	SNP	G	G	A			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr12:58112779G>A	ENST00000315970.7	+	12	1455	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K	OS9_ENST00000389142.5_Missense_Mutation_p.E457K|OS9_ENST00000257966.8_Missense_Mutation_p.E473K|OS9_ENST00000552285.1_Missense_Mutation_p.E472K|OS9_ENST00000435406.2_Missense_Mutation_p.E420K|OS9_ENST00000389146.6_Missense_Mutation_p.E457K|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000551035.1_Missense_Mutation_p.E440K|OS9_ENST00000439210.2_Missense_Mutation_p.E398K|OS9_ENST00000413095.2_Missense_Mutation_p.E266K	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	472					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			ATTCCAGACAGAGAAAGAGCT	0.527																																																	0								ENSG00000135506						55.0	53.0	53.0					12																	58112779		2203	4300	6503	OS9	SO:0001583	missense	0			-	HGNC	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1414G>A	12.37:g.58112779G>A	ENSP00000318165:p.Glu472Lys	Somatic	0	23	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	103	226	31.31	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.E472K	ENST00000315970.7	37	c.1414	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625179	0.87560	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000547079;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T;T	0.47177	1.86;1.77;0.85;1.76;1.78;1.47;1.83;1.86;1.81;1.79	5.14	5.14	0.70334	.	0.825875	0.11646	N	0.543250	T	0.49830	0.1580	L	0.27053	0.805	0.42985	D	0.994475	P;P;D;B;P;B;B;B	0.64830	0.824;0.607;0.994;0.282;0.622;0.185;0.064;0.058	B;B;P;B;B;B;B;B	0.62298	0.3;0.12;0.9;0.093;0.152;0.043;0.013;0.019	T	0.13953	-1.0490	10	0.23302	T	0.38	.	9.5182	0.39117	0.0928:0.0:0.9072:0.0	.	398;440;266;473;457;472;457;472	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	K	472;472;165;398;457;266;440;473;420;457	ENSP00000450010:E472K;ENSP00000318165:E472K;ENSP00000447031:E165K;ENSP00000407360:E398K;ENSP00000373798:E457K;ENSP00000413112:E266K;ENSP00000447866:E440K;ENSP00000257966:E473K;ENSP00000389632:E420K;ENSP00000373794:E457K	ENSP00000257966:E473K	E	+	1	0	OS9	56399046	1.000000	0.71417	0.999000	0.59377	0.850000	0.48378	3.350000	0.52224	2.689000	0.91719	0.462000	0.41574	GAG	-	NULL		0.527	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	protein_coding	OTTHUMT00000408344.1	G	NM_006812	-		58112779	+1	no_errors	ENST00000315970	ensembl	human	known	74_37	missense	SNP	0.992	A
RAB13	5872	genome.wustl.edu	37	1	153954779	153954780	+	Intron	DEL	AC	AC	-	rs371625659|rs71584158|rs56853500|rs530111525|rs550367961	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	AC	AC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:153954779_153954780delAC	ENST00000368575.3	-	7	650				RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family						cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ATCAACACCAacacacacacac	0.45														1307	0.260982	0.2466	0.3156	5008	,	,		23862	0.2103		0.2356	False		,,,				2504	0.32				Ovarian(138;395 2427 24306 43415)												0								ENSG00000143545																																			RAB13	SO:0001627	intron_variant	0				HGNC	X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.534+86GT>-	1.37:g.153954789_153954790delAC		Somatic	0	18	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000368575.3	37	NULL	CCDS1058.1	1																																																																																			-	-		0.450	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB13	protein_coding	OTTHUMT00000088992.1	AC	NM_002870			153954780	-1	no_errors	ENST00000462680	ensembl	human	known	74_37	rna	DEL	0.000:0.001	-
SHCBP1L	81626	genome.wustl.edu	37	1	182908516	182908516	+	Missense_Mutation	SNP	G	G	T	rs143546680		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:182908516G>T	ENST00000367547.3	-	5	1107	c.871C>A	c.(871-873)Cag>Aag	p.Q291K	SHCBP1L_ENST00000423786.1_Missense_Mutation_p.Q172K|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	363										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						GTTCCATCCTGTATATCACAC	0.299																																																	0								ENSG00000157060						63.0	61.0	62.0					1																	182908516		2203	4300	6503	SHCBP1L	SO:0001583	missense	0			-	HGNC	AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.871C>A	1.37:g.182908516G>T	ENSP00000356518:p.Gln291Lys	Somatic	0	65	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	32	36.00	Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1	p.Q291K	ENST00000367547.3	37	c.871	CCDS30955.1	1	.	.	.	.	.	.	.	.	.	.	G	11.93	1.784998	0.31593	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.40225	1.04;1.06	4.97	4.97	0.65823	.	0.120167	0.37857	N	0.001914	T	0.33760	0.0874	L	0.41236	1.265	0.38542	D	0.949251	P;B;P	0.38767	0.646;0.4;0.612	B;B;B	0.37692	0.13;0.121;0.256	T	0.15896	-1.0421	10	0.12430	T	0.62	-10.3566	15.1536	0.72723	0.0:0.0:1.0:0.0	.	363;172;291	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	K	291;360;172	ENSP00000356518:Q291K;ENSP00000397308:Q172K	ENSP00000287709:Q360K	Q	-	1	0	SHCBP1L	181175139	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.916000	0.56416	2.311000	0.77944	0.563000	0.77884	CAG	-	NULL		0.299	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1L	protein_coding	OTTHUMT00000085956.1	G	NM_030933	-		182908516	-1	no_errors	ENST00000367547	ensembl	human	known	74_37	missense	SNP	1.000	T
BACE1	23621	genome.wustl.edu	37	11	117165988	117165988	+	Silent	SNP	G	G	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr11:117165988G>T	ENST00000313005.6	-	3	886	c.426C>A	c.(424-426)ggC>ggA	p.G142G	BACE1_ENST00000510630.1_Silent_p.G42G|BACE1_ENST00000428381.2_Silent_p.G142G|BACE1_ENST00000392937.6_Silent_p.G42G|BACE1_ENST00000514464.1_Intron|BACE1_ENST00000528053.1_Silent_p.G142G|BACE1_ENST00000513780.1_Silent_p.G142G|BACE1_ENST00000445823.2_Silent_p.G142G	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	142					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CCAGGTCGGTGCCCAGCTCCC	0.572																																																	0								ENSG00000186318						159.0	123.0	135.0					11																	117165988		2201	4296	6497	BACE1	SO:0001819	synonymous_variant	0			-	HGNC	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.426C>A	11.37:g.117165988G>T		Somatic	0	54	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom,prints_Pept_A1_BACE,prints_Pept_A1_BACE1,prints_Aspartic_peptidase	p.G142	ENST00000313005.6	37	c.426	CCDS8383.1	11	.	.	.	.	.	.	.	.	.	.	G	10.76	1.441468	0.25900	.	.	ENSG00000186318	ENST00000530844;ENST00000504995	.	.	.	5.83	4.92	0.64577	.	.	.	.	.	T	0.70133	0.3189	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69506	-0.5127	4	.	.	.	.	14.049	0.64725	0.072:0.0:0.928:0.0	.	.	.	.	N	56;72	.	.	H	-	1	0	BACE1	116671198	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.646000	0.37249	1.475000	0.48197	0.655000	0.94253	CAC	-	pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom		0.572	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BACE1	protein_coding	OTTHUMT00000361505.1	G		-		117165988	-1	no_errors	ENST00000313005	ensembl	human	known	74_37	silent	SNP	1.000	T
CMYA5	202333	genome.wustl.edu	37	5	79031324	79031324	+	Missense_Mutation	SNP	G	G	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr5:79031324G>T	ENST00000446378.2	+	2	6767	c.6736G>T	c.(6736-6738)Gct>Tct	p.A2246S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2246					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACTTAAAACTGCTGATGAACC	0.358																																																	0								ENSG00000164309						92.0	93.0	93.0					5																	79031324		1815	4083	5898	CMYA5	SO:0001583	missense	0			-	HGNC	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.6736G>T	5.37:g.79031324G>T	ENSP00000394770:p.Ala2246Ser	Somatic	0	40	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	29	9.38	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.A2246S	ENST00000446378.2	37	c.6736	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	6.826	0.521549	0.13005	.	.	ENSG00000164309	ENST00000446378	T	0.21543	2.0	5.94	3.23	0.37069	.	0.409534	0.21313	N	0.076602	T	0.20495	0.0493	M	0.65975	2.015	0.09310	N	1	P	0.42456	0.78	B	0.38106	0.265	T	0.09707	-1.0662	10	0.32370	T	0.25	.	8.1965	0.31400	0.2452:0.0:0.7548:0.0	.	2246	Q8N3K9	CMYA5_HUMAN	S	2246	ENSP00000394770:A2246S	ENSP00000394770:A2246S	A	+	1	0	CMYA5	79067080	0.001000	0.12720	0.005000	0.12908	0.007000	0.05969	0.672000	0.25187	0.429000	0.26202	-0.157000	0.13467	GCT	-	NULL		0.358	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	protein_coding	OTTHUMT00000369497.1	G	NM_153610	-		79031324	+1	no_errors	ENST00000446378	ensembl	human	known	74_37	missense	SNP	0.001	T
FRG1B	284802	genome.wustl.edu	37	20	29614323	29614323	+	5'UTR	SNP	C	C	T	rs62197050		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr20:29614323C>T	ENST00000278882.3	+	0	316				FRG1B_ENST00000358464.4_5'UTR|FRG1B_ENST00000439954.2_5'UTR			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						CAGCTTGATACGTTGGTGAGT	0.289																																																	0								ENSG00000149531																																			FRG1B	SO:0001623	5_prime_UTR_variant	0			-	HGNC			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.-65C>T	20.37:g.29614323C>T		Somatic	0	44	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	41	16.33	C4AME5	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000278882.3	37	NULL		20																																																																																			-	-		0.289	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FRG1B	protein_coding	OTTHUMT00000078494.2	C	NR_003579	rs62197050		29614323	+1	no_errors	ENST00000482423	ensembl	human	known	74_37	rna	SNP	0.977	T
AFF2	2334	genome.wustl.edu	37	X	148037966	148037966	+	Silent	SNP	C	C	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chrX:148037966C>T	ENST00000370460.2	+	11	2870	c.2391C>T	c.(2389-2391)aaC>aaT	p.N797N	AFF2_ENST00000342251.3_Silent_p.N764N|AFF2_ENST00000370457.5_Silent_p.N764N|AFF2_ENST00000286437.5_Silent_p.N438N	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	797					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATCATGAGAACCTGAAAAACC	0.478																																																	0								ENSG00000155966						121.0	111.0	114.0					X																	148037966		2203	4300	6503	AFF2	SO:0001819	synonymous_variant	0			-	HGNC	U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2391C>T	X.37:g.148037966C>T		Somatic	0	28	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	21	51.16	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_TF_AF4/FMR2	p.N797	ENST00000370460.2	37	c.2391	CCDS14684.1	X																																																																																			-	pfam_TF_AF4/FMR2		0.478	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	protein_coding	OTTHUMT00000058673.2	C	NM_002025	-		148037966	+1	no_errors	ENST00000370460	ensembl	human	known	74_37	silent	SNP	0.004	T
SH2D4B	387694	genome.wustl.edu	37	10	82394162	82394162	+	Silent	SNP	C	C	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr10:82394162C>T	ENST00000470604.2	+	7	1104	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	SH2D4B_ENST00000313455.4_Intron|SH2D4B_ENST00000339284.2_Intron|SH2D4B_ENST00000372150.3_Intron			Q5SQS7	SH24B_HUMAN	SH2 domain containing 4B	368	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			AGAAAGGGTTCAAACACTTTC	0.522																																																	0								ENSG00000178217																																			SH2D4B	SO:0001819	synonymous_variant	0			-	HGNC		CCDS7370.1, CCDS44449.1	10q23.1	2013-02-14			ENSG00000178217	ENSG00000178217		"""SH2 domain containing"""	31440	protein-coding gene	gene with protein product							Standard	NM_207372		Approved		uc001kck.1	Q5SQS7	OTTHUMG00000018617	ENST00000470604.2:c.1104C>T	10.37:g.82394162C>T		Somatic	0	37	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	25	13.79	Q5SQS5|Q6ZVW9|Q6ZVZ3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.F368	ENST00000470604.2	37	c.1104		10																																																																																			-	pfam_SH2,smart_SH2,pfscan_SH2		0.522	SH2D4B-202	KNOWN	basic|appris_principal	protein_coding	SH2D4B	protein_coding		C	XM_351984	-		82394162	+1	no_errors	ENST00000470604	ensembl	human	known	74_37	silent	SNP	1.000	T
NBPF10	100132406	genome.wustl.edu	37	1	145302775	145302775	+	Missense_Mutation	SNP	T	T	G	rs376014420		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:145302775T>G	ENST00000369339.3	+	5	653	c.400T>G	c.(400-402)Tat>Gat	p.Y134D	NBPF10_ENST00000342960.5_Missense_Mutation_p.Y405D|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Missense_Mutation_p.Y134D			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	405						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CCTCACTCCGTATGAGCCGGA	0.577																																																	0								ENSG00000163386																																			NBPF10	SO:0001583	missense	0			-	HGNC	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.400T>G	1.37:g.145302775T>G	ENSP00000358345:p.Tyr134Asp	Somatic	0	102	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	62	17.33	Q5RHC0|Q9NWN6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NBPF_dom	p.Y405D	ENST00000369339.3	37	c.1213		1	.	.	.	.	.	.	.	.	.	.	.	0	-2.664813	0.00107	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.46063	0.88;4.33	0.712	-0.91	0.10511	.	.	.	.	.	T	0.03390	0.0098	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33189	-0.9878	7	0.02654	T	1	.	.	.	.	.	134	A8MQ30	.	D	330;134;134;405	ENSP00000358344:Y134D;ENSP00000345684:Y405D	ENSP00000345684:Y405D	Y	+	1	0	NBPF10	144014132	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.464000	0.06688	-1.158000	0.02811	-1.371000	0.01190	TAT	-	NULL		0.577	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	protein_coding	OTTHUMT00000038550.3	T	NM_001039703	-		145302775	+1	no_errors	ENST00000342960	ensembl	human	known	74_37	missense	SNP	0.000	G
REXO1	57455	genome.wustl.edu	37	19	1819988	1819988	+	Silent	SNP	C	C	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr19:1819988C>T	ENST00000170168.4	-	7	2689	c.2595G>A	c.(2593-2595)gtG>gtA	p.V865V	CTB-31O20.4_ENST00000593201.1_RNA|CTB-31O20.4_ENST00000590531.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	865						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		TGAGGGTGTTCACGGCCACAT	0.662																																																	0								ENSG00000079313						38.0	37.0	37.0					19																	1819988		2203	4300	6503	REXO1	SO:0001819	synonymous_variant	0			-	HGNC	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2595G>A	19.37:g.1819988C>T		Somatic	0	61	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	119	406	22.62	Q9ULT2	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.V865	ENST00000170168.4	37	c.2595	CCDS32866.1	19																																																																																			-	NULL		0.662	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	protein_coding	OTTHUMT00000449200.1	C	NM_020695	-		1819988	-1	no_errors	ENST00000170168	ensembl	human	known	74_37	silent	SNP	1.000	T
ZFHX2	85446	genome.wustl.edu	37	14	23991278	23991278	+	Missense_Mutation	SNP	C	C	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr14:23991278C>T	ENST00000419474.3	-	10	7967	c.7612G>A	c.(7612-7614)Gcc>Acc	p.A2538T	RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000554403.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|ZFHX2_ENST00000606808.1_5'Flank	NM_033400.2	NP_207646.2	Q9C0A1	ZFHX2_HUMAN	zinc finger homeobox 2	2538					adult behavior (GO:0030534)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)	5						GCAGCAGTGGCGGCGTTGGTG	0.612																																																	0								ENSG00000136367																																			ZFHX2	SO:0001583	missense	0			-	HGNC	AB051549	CCDS55907.1	14q11.2	2012-03-09			ENSG00000136367	ENSG00000136367		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	20152	protein-coding gene	gene with protein product			"""zinc finger protein 409"""	ZNF409		11214970, 10470851	Standard	NM_033400		Approved	KIAA1762, KIAA1056, ZFH-5	uc010tno.2	Q9C0A1	OTTHUMG00000156894	ENST00000419474.3:c.7612G>A	14.37:g.23991278C>T	ENSP00000413418:p.Ala2538Thr	Somatic	0	42	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	33	31.25	Q9UPU6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.A2538T	ENST00000419474.3	37	c.7612	CCDS55907.1	14	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562835	0.27915	.	.	ENSG00000136367	ENST00000419474	T	0.80738	-1.41	4.79	-0.526	0.11913	.	0.395668	0.18671	N	0.134428	T	0.58323	0.2114	N	0.08118	0	0.24599	N	0.993789	B	0.06786	0.001	B	0.04013	0.001	T	0.49899	-0.8890	10	0.46703	T	0.11	.	7.8892	0.29667	0.0:0.3987:0.0:0.6013	.	2538	Q9C0A1	ZFHX2_HUMAN	T	2538	ENSP00000413418:A2538T	ENSP00000413418:A2538T	A	-	1	0	ZFHX2	23061118	0.431000	0.25546	0.820000	0.32676	0.837000	0.47467	0.187000	0.16998	0.012000	0.14892	0.498000	0.49722	GCC	-	NULL		0.612	ZFHX2-001	KNOWN	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ZFHX2	protein_coding	OTTHUMT00000346484.3	C	NM_014894	-		23991278	-1	no_errors	ENST00000419474	ensembl	human	known	74_37	missense	SNP	0.986	T
LAMB4	22798	genome.wustl.edu	37	7	107732113	107732113	+	Silent	SNP	G	G	A			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr7:107732113G>A	ENST00000388781.3	-	14	1742	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y	LAMB4_ENST00000418464.1_Silent_p.Y553Y|LAMB4_ENST00000414450.2_Silent_p.Y553Y|LAMB4_ENST00000205386.4_Silent_p.Y553Y|LAMB4_ENST00000388780.3_Silent_p.Y553Y	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	553	Laminin IV type B. {ECO:0000255|PROSITE- ProRule:PRU00462}.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCTCTGCCTCGTAGAGATAGA	0.488																																																	0								ENSG00000091128						93.0	89.0	90.0					7																	107732113		2203	4300	6503	LAMB4	SO:0001819	synonymous_variant	0			-	HGNC	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.1659C>T	7.37:g.107732113G>A		Somatic	0	39	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	36	14.29	A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.Y553	ENST00000388781.3	37	c.1659	CCDS34732.1	7																																																																																			-	smart_EGF_laminin,pfscan_Laminin_IV		0.488	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB4	protein_coding	OTTHUMT00000337442.1	G	XM_209857	-		107732113	-1	no_errors	ENST00000205386	ensembl	human	known	74_37	silent	SNP	0.796	A
RANBP17	64901	genome.wustl.edu	37	5	170336734	170336734	+	Missense_Mutation	SNP	G	G	A			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr5:170336734G>A	ENST00000523189.1	+	6	723	c.559G>A	c.(559-561)Gac>Aac	p.D187N		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	187					mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)	GTP binding (GO:0005525)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCTCTCAAAGACGTTTTAGT	0.308			T	TRD@	ALL																																			Dom	yes		5	5q34	64901	RAN binding protein 17		L	0								ENSG00000204764						79.0	77.0	77.0					5																	170336734		2202	4293	6495	RANBP17	SO:0001583	missense	0			-	HGNC	AF222747	CCDS34287.1	5q34	2009-01-12			ENSG00000204764	ENSG00000204764			14428	protein-coding gene	gene with protein product		606141				11024021	Standard	NM_022897		Approved		uc003mba.3	Q9H2T7	OTTHUMG00000163203	ENST00000523189.1:c.559G>A	5.37:g.170336734G>A	ENSP00000427975:p.Asp187Asn	Somatic	0	61	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	60	9.09	Q8IU74	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.D187N	ENST00000523189.1	37	c.559	CCDS34287.1	5	.	.	.	.	.	.	.	.	.	.	g	21.7	4.187853	0.78789	.	.	ENSG00000204764	ENST00000523189;ENST00000545246	T	0.41065	1.01	5.36	5.36	0.76844	Armadillo-type fold (1);	0.000000	0.64402	D	0.000003	T	0.60818	0.2298	L	0.60455	1.87	0.49051	D	0.999749	P;D	0.63880	0.864;0.993	B;D	0.74674	0.259;0.984	T	0.56117	-0.8032	10	0.37606	T	0.19	-16.6411	17.2295	0.86981	0.0:0.0:1.0:0.0	.	187;237	Q9H2T7;B4DQG2	RBP17_HUMAN;.	N	187;83	ENSP00000427975:D187N	ENSP00000373770:D187N	D	+	1	0	RANBP17	170269312	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.271000	0.89883	2.676000	0.91093	0.655000	0.94253	GAC	-	superfamily_ARM-type_fold		0.308	RANBP17-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RANBP17	protein_coding	OTTHUMT00000372036.1	G	NM_022897	-		170336734	+1	no_errors	ENST00000523189	ensembl	human	known	74_37	missense	SNP	1.000	A
RP11-435B5.5	0	genome.wustl.edu	37	1	143378256	143378256	+	lincRNA	SNP	A	A	G			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:143378256A>G	ENST00000428624.1	+	0	976				RP11-435B5.3_ENST00000430699.1_lincRNA|RP11-435B5.4_ENST00000423249.1_lincRNA																							AGCTGAGAATACAAGGCTCAA	0.383																																																	0								ENSG00000238261																																			RP11-435B5.5			0			-	Clone_based_vega_gene																													1.37:g.143378256A>G		Somatic	1	184	0.54		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	113	26.14		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000428624.1	37	NULL		1																																																																																			-	-		0.383	RP11-435B5.5-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC101927345	lincRNA	OTTHUMT00000037971.1	A		-		143378256	+1	no_errors	ENST00000428624	ensembl	human	known	74_37	rna	SNP	0.450	G
RP11-672F9.1	0	genome.wustl.edu	37	10	38599071	38599071	+	lincRNA	SNP	A	A	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr10:38599071A>T	ENST00000450980.1	+	0	240																											AATTTACTCAACATGGCCAAA	0.423																																																	0								ENSG00000226113																																			RP11-672F9.1			0			-	Clone_based_vega_gene																													10.37:g.38599071A>T		Somatic	0	68	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	58	26.58		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000450980.1	37	NULL		10																																																																																			-	-		0.423	RP11-672F9.1-001	KNOWN	basic	lincRNA	ENSG00000226113	lincRNA	OTTHUMT00000047630.1	A		-		38599071	+1	no_errors	ENST00000450980	ensembl	human	known	74_37	rna	SNP	1.000	T
INTS10	55174	genome.wustl.edu	37	8	19677110	19677110	+	Missense_Mutation	SNP	T	T	C			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr8:19677110T>C	ENST00000397977.3	+	3	622	c.224T>C	c.(223-225)gTg>gCg	p.V75A	INTS10_ENST00000521758.1_3'UTR	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	75					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GACCAGCCGGTGGTGTGGAGA	0.313																																																	0								ENSG00000104613						86.0	74.0	78.0					8																	19677110		1805	4076	5881	INTS10	SO:0001583	missense	0			-	HGNC	AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.224T>C	8.37:g.19677110T>C	ENSP00000381064:p.Val75Ala	Somatic	0	40	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	23	32.35	Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.V75A	ENST00000397977.3	37	c.224	CCDS6011.2	8	.	.	.	.	.	.	.	.	.	.	T	12.61	1.989788	0.35131	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.93	5.93	0.95920	.	0.168563	0.37955	U	0.001873	T	0.47210	0.1433	L	0.44542	1.39	0.42300	D	0.992176	B	0.02656	0.0	B	0.08055	0.003	T	0.41052	-0.9530	9	0.23302	T	0.38	-22.3069	10.3682	0.44038	0.0:0.0766:0.0:0.9234	.	75	Q9NVR2	INT10_HUMAN	A	75	.	ENSP00000381064:V75A	V	+	2	0	INTS10	19721390	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.438000	0.59961	2.263000	0.75096	0.533000	0.62120	GTG	-	NULL		0.313	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	protein_coding	OTTHUMT00000253724.2	T	NM_018142	-		19677110	+1	no_errors	ENST00000397977	ensembl	human	known	74_37	missense	SNP	1.000	C
MIR3689A	100500846	genome.wustl.edu	37	9	137741779	137741779	+	RNA	SNP	G	G	T	rs71483235|rs71499202|rs554561128	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr9:137741779G>T	ENST00000578854.1	-	0	0				MIR3689D2_ENST00000580187.1_RNA|AL603650.1_ENST00000583957.1_RNA|AL603650.4_ENST00000583817.1_RNA|MIR3689C_ENST00000581239.1_RNA|AL603650.3_ENST00000582742.1_RNA|MIR3689D1_ENST00000579706.1_RNA|MIR3689B_ENST00000581772.1_RNA|MIR3689E_ENST00000582479.1_RNA|MIR3689F_ENST00000579617.1_RNA|AL603650.2_ENST00000581079.1_RNA	NR_037460.1				microRNA 3689a																		GGAAGCACAGGATCACACCTC	0.547													g|||	1465	0.292532	0.3661	0.2781	5008	,	,		13142	0.1756		0.325	False		,,,				2504	0.2904																0								ENSG00000266060																																			AL603650.4			0			-	Clone_based_ensembl_gene			9	2011-09-12				ENSG00000265872		"""ncRNAs / Micro RNAs"""	38904	non-coding RNA	RNA, micro							Standard	NR_037460		Approved	hsa-mir-3689a	uc022bpb.1				9.37:g.137741779G>T		Somatic	0	27	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	7	50.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000578854.1	37	NULL		9																																																																																			-	-		0.547	MIR3689A-201	KNOWN	basic	miRNA	ENSG00000266060	miRNA		G	NR_037460	-		137741779	-1	no_errors	ENST00000583817	ensembl	human	novel	74_37	rna	SNP	0.000	T
HDAC6	10013	genome.wustl.edu	37	X	48682631	48682631	+	Missense_Mutation	SNP	G	G	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chrX:48682631G>T	ENST00000334136.5	+	28	3684	c.3506G>T	c.(3505-3507)gGa>gTa	p.G1169V	HDAC6_ENST00000376619.2_Missense_Mutation_p.G1169V|HDAC6_ENST00000444343.2_Missense_Mutation_p.G1183V			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1169					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)	GGAAATTCTGGACACCCGCTG	0.577																																					Pancreas(112;205 1675 2305 8976 15959)												0								ENSG00000094631						159.0	110.0	126.0					X																	48682631		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.3506G>T	X.37:g.48682631G>T	ENSP00000334061:p.Gly1169Val	Somatic	0	18	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	1	96.30	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.G1183V	ENST00000334136.5	37	c.3548	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	g	15.63	2.889665	0.52014	.	.	ENSG00000094631	ENST00000444343;ENST00000334136;ENST00000376619	T;T;T	0.37058	1.22;1.22;1.22	5.27	1.97	0.26223	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (3);	0.431961	0.24583	N	0.037299	T	0.61578	0.2358	M	0.91561	3.22	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.76575	0.982;0.988;0.985;0.982	T	0.58847	-0.7564	10	0.46703	T	0.11	-1.9854	7.6478	0.28331	0.3457:0.0:0.6543:0.0	.	1159;532;817;1169	B4DZN1;B3KY98;B3KVK5;Q9UBN7	.;.;.;HDAC6_HUMAN	V	1183;1169;1169	ENSP00000398566:G1183V;ENSP00000334061:G1169V;ENSP00000365804:G1169V	ENSP00000334061:G1169V	G	+	2	0	HDAC6	48567575	1.000000	0.71417	0.417000	0.26559	0.840000	0.47671	4.409000	0.59768	0.043000	0.15746	0.287000	0.19450	GGA	-	pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP		0.577	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	protein_coding	OTTHUMT00000083394.2	G	NM_006044	-		48682631	+1	no_errors	ENST00000444343	ensembl	human	known	74_37	missense	SNP	0.932	T
CD200R1L	344807	genome.wustl.edu	37	3	112538711	112538711	+	Silent	SNP	G	G	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr3:112538711G>T	ENST00000398214.1	-	5	936	c.711C>A	c.(709-711)tcC>tcA	p.S237S	CD200R1L_ENST00000488794.1_Silent_p.S216S|CD200R1L_ENST00000448932.1_Silent_p.S216S	NM_001008784.2	NP_001008784.2	Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	237						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						TGATCAGTAAGGACAACGCTG	0.383																																																	0								ENSG00000206531						91.0	87.0	88.0					3																	112538711		1852	4107	5959	CD200R1L	SO:0001819	synonymous_variant	0			-	HGNC	AY284976	CCDS43131.1, CCDS56267.1	3q13.2	2014-05-15	2008-10-08		ENSG00000206531	ENSG00000206531		"""Immunoglobulin superfamily / C2-set domain containing"""	24665	protein-coding gene	gene with protein product	"""CD200 receptor 2"""						Standard	NM_001008784		Approved	CD200RLa, CD200R2	uc003dzi.1	Q6Q8B3	OTTHUMG00000159283	ENST00000398214.1:c.711C>A	3.37:g.112538711G>T		Somatic	0	30	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	14	17.65	Q6WHB7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_CD80_C2-set,pfscan_Ig-like_dom	p.S237	ENST00000398214.1	37	c.711	CCDS43131.1	3																																																																																			-	NULL		0.383	CD200R1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD200R1L	protein_coding	OTTHUMT00000354365.1	G	NM_001008784	-		112538711	-1	no_errors	ENST00000398214	ensembl	human	known	74_37	silent	SNP	0.001	T
USP43	124739	genome.wustl.edu	37	17	9604692	9604692	+	Missense_Mutation	SNP	G	G	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr17:9604692G>T	ENST00000285199.7	+	12	1782	c.1686G>T	c.(1684-1686)aaG>aaT	p.K562N	USP43_ENST00000570475.1_Missense_Mutation_p.K562N|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	562	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						ACGCCTGGAAGTGTCCTCACT	0.617																																																	0								ENSG00000154914						32.0	34.0	33.0					17																	9604692		2167	4263	6430	USP43	SO:0001583	missense	0			-	HGNC	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.1686G>T	17.37:g.9604692G>T	ENSP00000285199:p.Lys562Asn	Somatic	0	41	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.K562N	ENST00000285199.7	37	c.1686	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	G	18.24	3.581322	0.65992	.	.	ENSG00000154914	ENST00000285199	T	0.02974	4.09	5.12	-2.49	0.06403	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.291851	0.29594	N	0.011710	T	0.05135	0.0137	L	0.35644	1.08	0.47276	D	0.999377	D;D;B;P	0.69078	0.995;0.997;0.202;0.819	D;P;B;P	0.68621	0.959;0.888;0.155;0.539	T	0.49303	-0.8954	10	0.32370	T	0.25	-17.1238	5.85	0.18687	0.1554:0.0:0.3547:0.4899	.	562;251;562;74	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	N	562	ENSP00000285199:K562N	ENSP00000285199:K562N	K	+	3	2	USP43	9545417	1.000000	0.71417	0.287000	0.24848	0.872000	0.50106	0.836000	0.27545	-0.024000	0.13941	0.563000	0.77884	AAG	-	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67		0.617	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	protein_coding	OTTHUMT00000439855.3	G	NM_153210	-		9604692	+1	no_errors	ENST00000285199	ensembl	human	known	74_37	missense	SNP	0.963	T
ZNHIT2	741	genome.wustl.edu	37	11	64884315	64884315	+	Silent	SNP	G	G	A			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr11:64884315G>A	ENST00000310597.4	-	1	855	c.811C>T	c.(811-813)Ctg>Ttg	p.L271L	AP003068.12_ENST00000527789.1_RNA	NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	271							metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCTGCTTCCAGCACGTGGGCT	0.692																																																	0								ENSG00000174276						10.0	13.0	12.0					11																	64884315		2189	4274	6463	ZNHIT2	SO:0001819	synonymous_variant	0			-	HGNC		CCDS8094.1	11q13	2012-08-08	2010-09-15	2004-07-14	ENSG00000174276	ENSG00000174276		"""Zinc fingers, HIT-type"""	1177	protein-coding gene	gene with protein product		604575	"""chromosome 11 open reading frame 5"", ""zinc finger, HIT domain containing 2"""	C11orf5			Standard	NM_014205		Approved	FON	uc001ocw.3	Q9UHR6	OTTHUMG00000165604	ENST00000310597.4:c.811C>T	11.37:g.64884315G>A		Somatic	0	28	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	34	30.61	Q3SY14|Q8IUV0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_HIT,pfscan_Znf_HIT	p.L271	ENST00000310597.4	37	c.811	CCDS8094.1	11																																																																																			-	NULL		0.692	ZNHIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNHIT2	protein_coding	OTTHUMT00000385260.1	G	NM_014205	-		64884315	-1	no_errors	ENST00000310597	ensembl	human	known	74_37	silent	SNP	1.000	A
MYH13	8735	genome.wustl.edu	37	17	10267836	10267836	+	Silent	SNP	G	G	A	rs34042358	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr17:10267836G>A	ENST00000418404.3	-	2	175	c.12C>T	c.(10-12)gaC>gaT	p.D4D	MYH13_ENST00000252172.4_Silent_p.D4D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	4					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CCATTTCTGCGTCAGAGCTCA	0.527																																																	0								ENSG00000006788						49.0	46.0	47.0					17																	10267836		1937	4152	6089	MYH13	SO:0001819	synonymous_variant	0			-	HGNC	AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.12C>T	17.37:g.10267836G>A		Somatic	0	62	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	30	42	41.67	O95252|Q9P0U8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D4	ENST00000418404.3	37	c.12	CCDS45613.1	17																																																																																			-	NULL		0.527	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	protein_coding	OTTHUMT00000442255.1	G	NM_003802	-		10267836	-1	no_errors	ENST00000252172	ensembl	human	known	74_37	silent	SNP	0.658	A
CSNK1G3	1456	genome.wustl.edu	37	5	122881404	122881404	+	Missense_Mutation	SNP	C	C	G			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr5:122881404C>G	ENST00000361991.2	+	1	77	c.47C>G	c.(46-48)gCa>gGa	p.A16G	CSNK1G3_ENST00000345990.4_Missense_Mutation_p.A16G|CSNK1G3_ENST00000395411.1_Missense_Mutation_p.A16G|CSNK1G3_ENST00000510842.2_Missense_Mutation_p.A16G|CSNK1G3_ENST00000511130.2_Intron|CSNK1G3_ENST00000512718.3_Intron|CSNK1G3_ENST00000395412.1_Missense_Mutation_p.A16G|CSNK1G3_ENST00000360683.2_Missense_Mutation_p.A16G|CSNK1G3_ENST00000508708.1_3'UTR|CSNK1G3_ENST00000521364.1_Missense_Mutation_p.A16G			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	16					cellular protein modification process (GO:0006464)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		GATAGAATGGCACGACCTAGT	0.393																																					Pancreas(187;2868 2964 4353 6297)												0								ENSG00000151292						129.0	110.0	116.0					5																	122881404		2203	4300	6503	CSNK1G3	SO:0001583	missense	0			-	HGNC	AF049090	CCDS4135.1, CCDS34218.1, CCDS43355.1, CCDS59491.1, CCDS59492.1, CCDS59493.1	5q23	2013-01-17			ENSG00000151292	ENSG00000151292			2456	protein-coding gene	gene with protein product		604253				9925945	Standard	NM_004384		Approved		uc031skv.1	Q9Y6M4	OTTHUMG00000128923	ENST00000361991.2:c.47C>G	5.37:g.122881404C>G	ENSP00000354942:p.Ala16Gly	Somatic	0	52	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	64	20.00	A8K040|B4DSH2|B7Z9Q4|E7EVD0|Q86WZ7|Q9Y6M3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Casein_kinase-1_gamma_C,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.A16G	ENST00000361991.2	37	c.47	CCDS4135.1	5	.	.	.	.	.	.	.	.	.	.	C	14.74	2.624630	0.46840	.	.	ENSG00000151292	ENST00000395412;ENST00000395411;ENST00000345990;ENST00000521364;ENST00000510842;ENST00000361991;ENST00000360683	T;T;T;T;T;T;T	0.51574	0.71;0.7;0.72;0.72;0.7;0.7;0.71	5.2	5.2	0.72013	.	0.000000	0.64402	D	0.000001	T	0.43299	0.1241	L	0.38531	1.155	0.38316	D	0.943381	B;B;B;P	0.35700	0.129;0.364;0.002;0.516	B;B;B;B	0.38985	0.071;0.287;0.005;0.287	T	0.29458	-1.0011	10	0.18710	T	0.47	.	19.2408	0.93881	0.0:1.0:0.0:0.0	.	16;16;16;16	A8K040;Q9Y6M4-3;Q9Y6M4;Q9Y6M4-2	.;.;KC1G3_HUMAN;.	G	16	ENSP00000378807:A16G;ENSP00000378806:A16G;ENSP00000334735:A16G;ENSP00000429412:A16G;ENSP00000423838:A16G;ENSP00000354942:A16G;ENSP00000353904:A16G	ENSP00000334735:A16G	A	+	2	0	CSNK1G3	122909303	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.809000	0.75211	2.805000	0.96524	0.655000	0.94253	GCA	-	NULL		0.393	CSNK1G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CSNK1G3	protein_coding	OTTHUMT00000250900.1	C	NM_004384	-		122881404	+1	no_errors	ENST00000360683	ensembl	human	known	74_37	missense	SNP	1.000	G
MARS2	92935	genome.wustl.edu	37	2	198570511	198570511	+	Missense_Mutation	SNP	G	G	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr2:198570511G>T	ENST00000282276.6	+	1	425	c.382G>T	c.(382-384)Gcc>Tcc	p.A128S	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	128					cell death (GO:0008219)|gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	TTTCCAGGAGGCCGGTATCTC	0.647																																																	0								ENSG00000247626						31.0	36.0	34.0					2																	198570511		2203	4300	6503	MARS2	SO:0001583	missense	0			-	HGNC	BC009115	CCDS33358.1	2q33.1	2014-01-30	2007-02-26		ENSG00000247626	ENSG00000247626	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	25133	protein-coding gene	gene with protein product	"""methionine tRNA ligase 2, mitochondrial"""	609728				15274629	Standard	NM_138395		Approved	mtMetRS, SPAX3	uc002uuq.3	Q96GW9	OTTHUMG00000154487	ENST00000282276.6:c.382G>T	2.37:g.198570511G>T	ENSP00000282276:p.Ala128Ser	Somatic	0	44	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	A0AVC3|Q76E79|Q8IW62|Q8N7N4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,prints_Met-tRNA_synth,tigrfam_Met-tRNA_synth	p.A128S	ENST00000282276.6	37	c.382	CCDS33358.1	2	.	.	.	.	.	.	.	.	.	.	G	11.24	1.581390	0.28180	.	.	ENSG00000247626	ENST00000282276;ENST00000499940	T	0.44881	0.91	5.78	5.78	0.91487	Aminoacyl-tRNA synthetase, class I (M) (1);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.351137	0.33712	N	0.004624	T	0.34890	0.0913	L	0.28649	0.875	0.36688	D	0.879421	B	0.34226	0.443	B	0.36378	0.223	T	0.45934	-0.9227	10	0.87932	D	0	-15.8838	13.1376	0.59417	0.0:0.1605:0.8395:0.0	.	128	Q96GW9	SYMM_HUMAN	S	128	ENSP00000282276:A128S	ENSP00000282276:A128S	A	+	1	0	MARS2	198278756	1.000000	0.71417	0.333000	0.25482	0.874000	0.50279	4.565000	0.60836	2.706000	0.92434	0.655000	0.94253	GCC	-	pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Met-tRNA_synth		0.647	MARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARS2	protein_coding	OTTHUMT00000335477.1	G	NM_138395	-		198570511	+1	no_errors	ENST00000282276	ensembl	human	known	74_37	missense	SNP	0.857	T
RNF212	285498	genome.wustl.edu	37	4	1087327	1087328	+	Intron	INS	-	-	CTGCCCAGGCTGGAGCCAGCC	rs376912904|rs386670461|rs142232513|rs539986150|rs138488801	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr4:1087327_1087328insCTGCCCAGGCTGGAGCCAGCC	ENST00000433731.2	-	4	308				RNF212_ENST00000382968.5_Intron|RNF212_ENST00000333673.5_In_Frame_Ins_p.241_241S>WLAPAWAA			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		0.6513542349807201	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
ZC3H12A	80149	genome.wustl.edu	37	1	37947330	37947330	+	Missense_Mutation	SNP	G	G	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:37947330G>T	ENST00000373087.6	+	4	828	c.712G>T	c.(712-714)Ggg>Tgg	p.G238W		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CGAGTCTGACGGGATCGTGGT	0.567																																																	0								ENSG00000163874						246.0	211.0	223.0					1																	37947330		2203	4300	6503	ZC3H12A	SO:0001583	missense	0			-	HGNC		CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.712G>T	1.37:g.37947330G>T	ENSP00000362179:p.Gly238Trp	Somatic	0	49	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	34	58	36.96		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RNase_Zc3h12	p.G238W	ENST00000373087.6	37	c.712	CCDS417.1	1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415181	0.62511	.	.	ENSG00000163874	ENST00000373087;ENST00000373082	T	0.61158	0.13	5.7	5.7	0.88788	Ribonuclease Zc3h12a-like (1);	0.000000	0.85682	D	0.000000	D	0.83834	0.5340	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87790	0.2618	10	0.87932	D	0	-40.2381	19.8471	0.96713	0.0:0.0:1.0:0.0	.	238	Q5D1E8	ZC12A_HUMAN	W	238	ENSP00000362179:G238W	ENSP00000362174:G238W	G	+	1	0	ZC3H12A	37719917	1.000000	0.71417	0.165000	0.22776	0.018000	0.09664	9.807000	0.99171	2.688000	0.91661	0.655000	0.94253	GGG	-	pfam_RNase_Zc3h12		0.567	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	protein_coding	OTTHUMT00000012154.2	G	NM_025079	-		37947330	+1	no_errors	ENST00000373087	ensembl	human	known	74_37	missense	SNP	0.999	T
TMEM233	387890	genome.wustl.edu	37	12	120031683	120031683	+	Missense_Mutation	SNP	C	C	G			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr12:120031683C>G	ENST00000426426.1	+	1	420	c.30C>G	c.(28-30)ttC>ttG	p.F10L	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_001136534.1	NP_001130006.1	B4DJY2	TM233_HUMAN	transmembrane protein 233	10					response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				endometrium(1)	1						GCCCGGACTTCAAGAGGGCTT	0.662																																																	0								ENSG00000224982						190.0	166.0	173.0					12																	120031683		692	1591	2283	TMEM233	SO:0001583	missense	0			-	HGNC		CCDS44995.1	12q24.23	2009-10-16			ENSG00000224982	ENSG00000224982			37219	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 2"""						Standard	NM_001136534		Approved	IFITMD2	uc010szd.1	B4DJY2	OTTHUMG00000168944	ENST00000426426.1:c.30C>G	12.37:g.120031683C>G	ENSP00000403130:p.Phe10Leu	Somatic	0	44	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	74	16.85		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CD225/Dispanin_fam	p.F10L	ENST00000426426.1	37	c.30	CCDS44995.1	12	.	.	.	.	.	.	.	.	.	.	C	4.655	0.121825	0.08931	.	.	ENSG00000224982	ENST00000426426	D	0.94828	-3.53	4.18	1.29	0.21616	.	.	.	.	.	D	0.83732	0.5318	N	0.08118	0	0.22961	N	0.998508	B	0.02656	0.0	B	0.01281	0.0	T	0.70579	-0.4833	8	.	.	.	.	4.1163	0.10083	0.3222:0.5004:0.0:0.1773	.	10	B4DJY2	TM233_HUMAN	L	10	ENSP00000403130:F10L	.	F	+	3	2	TMEM233	118516066	0.996000	0.38824	0.995000	0.50966	0.990000	0.78478	0.198000	0.17217	0.078000	0.16900	0.555000	0.69702	TTC	-	NULL		0.662	TMEM233-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM233	protein_coding	OTTHUMT00000401684.1	C	NM_001136534	-		120031683	+1	no_errors	ENST00000426426	ensembl	human	known	74_37	missense	SNP	0.992	G
MT-ND1	4535	genome.wustl.edu	37	M	834	834	+	5'Flank	SNP	G	G	A			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chrM:834G>A	ENST00000361390.2	+	0	0				MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-RNR1_ENST00000389680.2_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GATTAACCTTTAGCAATAAAC	0.483																																																	0								ENSG00000211459																																			MT-RNR1	SO:0001631	upstream_gene_variant	0			-	HGNC			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.834G>A	Exception_encountered	Somatic	0	139	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	28	8	77.78	C0JKH6|Q37523	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000361390.2	37	NULL		MT																																																																																			-	-		0.483	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR1	protein_coding		G	YP_003024026	-		834	+1	no_errors	ENST00000389680	ensembl	human	known	74_37	rna	SNP	NULL	A
SP1	6667	genome.wustl.edu	37	12	53777058	53777058	+	Missense_Mutation	SNP	G	G	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr12:53777058G>T	ENST00000327443.4	+	3	1425	c.1327G>T	c.(1327-1329)Gtt>Ttt	p.V443F	SP1_ENST00000426431.2_Missense_Mutation_p.V436F	NM_001251825.1|NM_138473.2	NP_001238754.1|NP_612482.2	P08047	SP1_HUMAN	Sp1 transcription factor	443	Transactivation domain B (Gln-rich).				cellular lipid metabolic process (GO:0044255)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|gene expression (GO:0010467)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|ossification (GO:0001503)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|rhythmic process (GO:0048511)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|trophectodermal cell differentiation (GO:0001829)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	bHLH transcription factor binding (GO:0043425)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enhancer binding (GO:0035326)|histone deacetylase binding (GO:0042826)|HMG box domain binding (GO:0071837)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		GCTTCAGGCTGTTCCAAACTC	0.557																																																	0								ENSG00000185591						111.0	118.0	116.0					12																	53777058		2203	4300	6503	SP1	SO:0001583	missense	0			-	HGNC	J03133	CCDS8857.1, CCDS44898.1	12q13.1	2013-01-08						"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11205	protein-coding gene	gene with protein product	"""specificity protein 1"""	189906				1662663	Standard	NM_003109		Approved		uc001scw.3	P08047	OTTHUMG00000170047	ENST00000327443.4:c.1327G>T	12.37:g.53777058G>T	ENSP00000329357:p.Val443Phe	Somatic	0	37	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	18	50.00	E4Z9M7|G5E9M8|Q86TN8|Q9H3Q5|Q9NR51|Q9NY21|Q9NYE7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V443F	ENST00000327443.4	37	c.1327	CCDS8857.1	12	.	.	.	.	.	.	.	.	.	.	G	10.40	1.341078	0.24339	.	.	ENSG00000185591	ENST00000327443;ENST00000426431	T;T	0.08634	3.1;3.07	4.67	4.67	0.58626	.	0.000000	0.48767	D	0.000180	T	0.04998	0.0134	L	0.29908	0.895	0.45354	D	0.998342	P	0.39480	0.675	B	0.26969	0.075	T	0.48456	-0.9034	10	0.12103	T	0.63	.	13.2563	0.60081	0.0:0.1608:0.8392:0.0	.	443	P08047	SP1_HUMAN	F	443;436	ENSP00000329357:V443F;ENSP00000404263:V436F	ENSP00000329357:V443F	V	+	1	0	SP1	52063325	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.379000	0.52440	2.595000	0.87683	0.467000	0.42956	GTT	-	NULL		0.557	SP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP1	protein_coding	OTTHUMT00000407044.1	G		-		53777058	+1	no_errors	ENST00000327443	ensembl	human	known	74_37	missense	SNP	1.000	T
E2F4	1874	genome.wustl.edu	37	16	67229794	67229796	+	In_Frame_Del	DEL	CAG	CAG	-	rs3830472|rs562856782		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	CAG	CAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr16:67229794_67229796delCAG	ENST00000379378.3	+	7	977_979	c.918_920delCAG	c.(916-921)gacagc>gac	p.S319del		NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding	319	Poly-Ser.		S -> SSSS.		blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S319_N320insS(1)		breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CCCTGCTGGAcagcagcagcagc	0.601																																																	1	Insertion - In frame(1)	breast(1)						ENSG00000205250																																			E2F4	SO:0001651	inframe_deletion	0				HGNC	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975	ENST00000379378.3:c.918_920delCAG	16.37:g.67229803_67229805delCAG	ENSP00000368686:p.Ser319del	Somatic	0	54	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	42	12.50	A6NGR8|B5BU56|Q12991|Q15328	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_E2F_TDP	p.S310in_frame_del	ENST00000379378.3	37	c.918_920	CCDS32464.1	16																																																																																			-	NULL		0.601	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	E2F4	protein_coding	OTTHUMT00000421565.1	CAG	NM_001950			67229796	+1	no_errors	ENST00000379378	ensembl	human	known	74_37	in_frame_del	DEL	0.995:0.995:0.995	-
SGSH	6448	genome.wustl.edu	37	17	78184600	78184602	+	In_Frame_Del	DEL	ACG	ACG	-	rs62620232	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	ACG	ACG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr17:78184600_78184602delACG	ENST00000326317.6	-	8	1244_1246	c.1158_1160delCGT	c.(1156-1161)ctcgtg>ctg	p.V387del	SGSH_ENST00000534910.1_In_Frame_Del_p.V184del	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	387			V -> M (in dbSNP:rs62620232). {ECO:0000269|PubMed:17128482}.		carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)	p.L386L(1)		central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GAGGTTGTGCACGAGGCGGAAGT	0.631																																																	1	Substitution - coding silent(1)	lung(1)						ENSG00000181523																																			SGSH	SO:0001651	inframe_deletion	0				HGNC	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.1158_1160delCGT	17.37:g.78184600_78184602delACG	ENSP00000314606:p.Val387del	Somatic	0	25	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	45	26.23	A8K5E2	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.V387in_frame_del	ENST00000326317.6	37	c.1160_1158	CCDS11770.1	17																																																																																			-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.631	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGSH	protein_coding	OTTHUMT00000437695.1	ACG	NM_000199			78184602	-1	no_errors	ENST00000326317	ensembl	human	known	74_37	in_frame_del	DEL	0.995:0.845:0.006	-
CX3CL1	6376	genome.wustl.edu	37	16	57416468	57416468	+	Missense_Mutation	SNP	G	G	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr16:57416468G>T	ENST00000006053.6	+	3	829	c.718G>T	c.(718-720)Gct>Tct	p.A240S	CX3CL1_ENST00000565912.1_Missense_Mutation_p.A202S|CX3CL1_ENST00000563383.1_Missense_Mutation_p.A246S	NM_002996.3	NP_002987.1	P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	240	Mucin-like stalk.		A -> V (in dbSNP:rs35860084).		angiogenesis involved in wound healing (GO:0060055)|cell adhesion (GO:0007155)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|immune response (GO:0006955)|leukocyte adhesive activation (GO:0050902)|leukocyte chemotaxis (GO:0030595)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcium-independent cell-cell adhesion (GO:0051041)|positive regulation of inflammatory response (GO:0050729)|positive regulation of transforming growth factor beta1 production (GO:0032914)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chemokine activity (GO:0008009)|receptor binding (GO:0005102)			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGAGGAGAATGCTCCGTCTGA	0.682																																																	0								ENSG00000006210						35.0	39.0	37.0					16																	57416468		2197	4300	6497	CX3CL1	SO:0001583	missense	0			-	HGNC	U84487	CCDS10779.1	16q13	2013-02-25	2002-08-22	2002-08-23	ENSG00000006210	ENSG00000006210		"""Endogenous ligands"""	10647	protein-coding gene	gene with protein product		601880	"""small inducible cytokine subfamily D (Cys-X3-Cys), member 1 (fractalkine, neurotactin)"""	SCYD1		9177350, 9024663	Standard	NM_002996		Approved	NTN, C3Xkine, ABCD-3, CXC3C, CXC3, fractalkine, neurotactin	uc002eli.3	P78423	OTTHUMG00000133469	ENST00000006053.6:c.718G>T	16.37:g.57416468G>T	ENSP00000006053:p.Ala240Ser	Somatic	0	50	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	O00672	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CX3CL1	p.A240S	ENST00000006053.6	37	c.718	CCDS10779.1	16	.	.	.	.	.	.	.	.	.	.	G	7.923	0.739008	0.15642	.	.	ENSG00000006210	ENST00000006053	T	0.04758	3.56	4.35	-8.7	0.00851	.	4.212230	0.01836	U	0.034987	T	0.02267	0.0070	N	0.03608	-0.345	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43972	-0.9358	10	0.87932	D	0	-12.9614	6.972	0.24654	0.1729:0.1092:0.6196:0.0983	.	240	P78423	X3CL1_HUMAN	S	240	ENSP00000006053:A240S	ENSP00000006053:A240S	A	+	1	0	CX3CL1	55973969	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.422000	0.01030	-2.153000	0.00793	-1.520000	0.00934	GCT	-	NULL		0.682	CX3CL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CX3CL1	protein_coding	OTTHUMT00000257345.3	G	NM_002996	-		57416468	+1	no_errors	ENST00000006053	ensembl	human	known	74_37	missense	SNP	0.000	T
PRKDC	5591	genome.wustl.edu	37	8	48845610	48845610	+	Silent	SNP	T	T	G	rs372701188		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr8:48845610T>G	ENST00000314191.2	-	16	1802	c.1746A>C	c.(1744-1746)acA>acC	p.T582T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.T582T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	582					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GTATTTCAAGTGTAAGATCCA	0.299								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0								ENSG00000253729						38.0	35.0	36.0					8																	48845610		1802	4047	5849	PRKDC	SO:0001819	synonymous_variant	0			-	HGNC		CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.1746A>C	8.37:g.48845610T>G		Somatic	0	36	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	46	17.86	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.T582	ENST00000314191.2	37	c.1746		8																																																																																			-	superfamily_ARM-type_fold		0.299	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	protein_coding		T	NM_001081640	-		48845610	-1	no_errors	ENST00000314191	ensembl	human	known	74_37	silent	SNP	0.723	G
APCDD1	147495	genome.wustl.edu	37	18	10471744	10471744	+	Missense_Mutation	SNP	T	T	G			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr18:10471744T>G	ENST00000355285.5	+	3	814	c.460T>G	c.(460-462)Tgc>Ggc	p.C154G	APCDD1_ENST00000578882.1_Intron	NM_153000.4	NP_694545.1			adenomatosis polyposis coli down-regulated 1											NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		CCAGGTGATCTGCCACACAGA	0.662																																																	0								ENSG00000154856						50.0	55.0	53.0					18																	10471744		2203	4300	6503	APCDD1	SO:0001583	missense	0			-	HGNC	AB056722	CCDS11849.1	18p11.21	2006-07-07			ENSG00000154856	ENSG00000154856			15718	protein-coding gene	gene with protein product		607479				12384519	Standard	NM_153000		Approved	B7323	uc002kom.4	Q8J025	OTTHUMG00000131635	ENST00000355285.5:c.460T>G	18.37:g.10471744T>G	ENSP00000347433:p.Cys154Gly	Somatic	0	43	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.C154G	ENST00000355285.5	37	c.460	CCDS11849.1	18	.	.	.	.	.	.	.	.	.	.	T	5.751	0.323034	0.10900	.	.	ENSG00000154856	ENST00000355285;ENST00000423585	T	0.16457	2.34	5.3	2.9	0.33743	.	0.405543	0.32640	N	0.005836	T	0.11452	0.0279	L	0.36672	1.1	0.80722	D	1	B	0.20261	0.043	B	0.23574	0.047	T	0.16808	-1.0390	10	0.54805	T	0.06	-45.8856	1.8599	0.03187	0.1365:0.1426:0.1422:0.5787	.	154	Q8J025	APCD1_HUMAN	G	154;205	ENSP00000347433:C154G	ENSP00000347433:C154G	C	+	1	0	APCDD1	10461744	0.983000	0.35010	0.998000	0.56505	0.175000	0.22909	1.212000	0.32394	0.829000	0.34733	-0.316000	0.08728	TGC	-	NULL		0.662	APCDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCDD1	protein_coding	OTTHUMT00000254529.2	T	NM_153000	-		10471744	+1	no_errors	ENST00000355285	ensembl	human	known	74_37	missense	SNP	0.997	G
SLC35A3	23443	genome.wustl.edu	37	1	100483253	100483253	+	Missense_Mutation	SNP	G	G	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:100483253G>T	ENST00000370155.3	+	7	1161	c.769G>T	c.(769-771)Gta>Tta	p.V257L	SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000465289.1_Intron|SLC35A3_ENST00000370153.1_Missense_Mutation_p.V299L|SLC35A3_ENST00000427993.2_Missense_Mutation_p.V257L	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	257					transmembrane transport (GO:0055085)|UDP-N-acetylglucosamine metabolic process (GO:0006047)|UDP-N-acetylglucosamine transport (GO:0015788)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)|UDP-N-acetylglucosamine transmembrane transporter activity (GO:0005462)			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TGGAGGCCTTGTAATAGCTGC	0.284																																					Ovarian(7;298 356 944 2149 6911)												0								ENSG00000117620						45.0	44.0	44.0					1																	100483253		2189	4278	6467	SLC35A3	SO:0001583	missense	0			-	HGNC	AB021981	CCDS762.1, CCDS60204.1, CCDS60205.1	1p21	2013-05-22			ENSG00000117620	ENSG00000117620		"""Solute carriers"""	11023	protein-coding gene	gene with protein product		605632	"""solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member 3"""			10393322	Standard	NM_001271685		Approved		uc001dsr.2	Q9Y2D2	OTTHUMG00000010805	ENST00000370155.3:c.769G>T	1.37:g.100483253G>T	ENSP00000359174:p.Val257Leu	Somatic	0	50	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A8K3F8|D3DT54|Q68CR2|Q9BSB7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt	p.V299L	ENST00000370155.3	37	c.895	CCDS762.1	1	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251802	0.22880	.	.	ENSG00000117620	ENST00000370155;ENST00000427993;ENST00000370153	T;T;T	0.42900	0.96;0.96;0.96	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.12305	0.0299	N	0.11023	0.085	0.80722	D	1	B;B	0.19445	0.036;0.001	B;B	0.23419	0.046;0.009	T	0.14090	-1.0485	10	0.06099	T	0.92	-14.5854	19.3509	0.94384	0.0:0.0:1.0:0.0	.	298;257	Q9Y2D2-2;Q9Y2D2	.;S35A3_HUMAN	L	257;257;299	ENSP00000359174:V257L;ENSP00000414947:V257L;ENSP00000359172:V299L	ENSP00000359172:V299L	V	+	1	0	SLC35A3	100255841	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.916000	0.87491	2.653000	0.90120	0.655000	0.94253	GTA	-	pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt		0.284	SLC35A3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC35A3	protein_coding	OTTHUMT00000029783.1	G	NM_012243	-		100483253	+1	no_errors	ENST00000370153	ensembl	human	known	74_37	missense	SNP	1.000	T
PTPRVP	148713	genome.wustl.edu	37	1	202155418	202155418	+	RNA	SNP	G	G	C			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:202155418G>C	ENST00000482597.1	+	0	3108					NR_002930.2				protein tyrosine phosphatase, receptor type, V, pseudogene																		GGAGGGTGGAGTAACTGCAAT	0.637																																																	0								ENSG00000243323																																			PTPRVP			0			-	HGNC	AJ629456		1q32.1	2013-09-26	2010-03-16	2010-03-16	ENSG00000243323	ENSG00000243323		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	13421	pseudogene	pseudogene				PTPRV		15358244	Standard	NR_002930		Approved	OST-PTP, ESP	uc009xaa.2		OTTHUMG00000040524		1.37:g.202155418G>C		Somatic	0	26	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	14	41.67		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000482597.1	37	NULL		1																																																																																			-	-		0.637	PTPRVP-003	KNOWN	basic	processed_transcript	PTPRVP	pseudogene	OTTHUMT00000334021.1	G	XM_086287	-		202155418	+1	no_errors	ENST00000482597	ensembl	human	known	74_37	rna	SNP	0.568	C
DBNL	28988	genome.wustl.edu	37	7	44081421	44081421	+	5'Flank	SNP	T	T	C			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr7:44081421T>C	ENST00000448521.1	+	0	0				DBNL_ENST00000440166.1_5'Flank|LINC00957_ENST00000441052.1_lincRNA|DBNL_ENST00000452943.1_5'Flank|DBNL_ENST00000494774.1_5'Flank|DBNL_ENST00000468694.1_5'Flank|DBNL_ENST00000456905.1_5'Flank|RASA4CP_ENST00000446874.1_RNA|DBNL_ENST00000490734.2_5'Flank	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						caatatagcatgcaacctcaC	0.478																																					NSCLC(68;573 1327 18604 34760 37992)												0								ENSG00000235314																																			LINC00957	SO:0001631	upstream_gene_variant	0			-	HGNC	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350		7.37:g.44081421T>C	Exception_encountered	Somatic	0	82	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	85	8.60	A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000448521.1	37	NULL	CCDS34623.1	7																																																																																			-	-		0.478	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LINC00957	protein_coding	OTTHUMT00000339572.2	T	NM_014063	-		44081421	+1	no_errors	ENST00000441052	ensembl	human	known	74_37	rna	SNP	0.378	C
OS9	10956	genome.wustl.edu	37	12	58113952	58113952	+	Silent	SNP	G	G	C			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr12:58113952G>C	ENST00000315970.7	+	13	1712	c.1671G>C	c.(1669-1671)ctG>ctC	p.L557L	OS9_ENST00000389142.5_Intron|OS9_ENST00000257966.8_Intron|OS9_ENST00000552285.1_Intron|OS9_ENST00000435406.2_Intron|OS9_ENST00000389146.6_Silent_p.L542L|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000551035.1_Intron|OS9_ENST00000439210.2_Intron|OS9_ENST00000413095.2_Intron	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	557					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			ATCAGGATCTGACTGTCCTCG	0.587																																																	0								ENSG00000135506						84.0	84.0	84.0					12																	58113952		2203	4300	6503	OS9	SO:0001819	synonymous_variant	0			-	HGNC	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1671G>C	12.37:g.58113952G>C		Somatic	0	37	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	266	371	41.76	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.L557	ENST00000315970.7	37	c.1671	CCDS31843.1	12																																																																																			-	NULL		0.587	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	protein_coding	OTTHUMT00000408344.1	G	NM_006812	-		58113952	+1	no_errors	ENST00000315970	ensembl	human	known	74_37	silent	SNP	1.000	C
MAPK9	5601	genome.wustl.edu	37	5	179674413	179674413	+	Intron	SNP	G	G	A	rs200094588		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr5:179674413G>A	ENST00000452135.2	-	7	987				MAPK9_ENST00000393360.3_Intron|MAPK9_ENST00000397072.3_Intron|MAPK9_ENST00000347470.4_Intron|MAPK9_ENST00000524170.1_Intron|MAPK9_ENST00000539014.1_3'UTR|MAPK9_ENST00000455781.1_Intron|MAPK9_ENST00000425491.2_Silent_p.P238P|MAPK9_ENST00000343111.6_Intron			P45984	MK09_HUMAN	mitogen-activated protein kinase 9						cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGCATGGCGGGGCCAAGGT	0.532													G|||	1	0.000199681	0.0	0.0	5008	,	,		16342	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000050748						79.0	69.0	72.0					5																	179674413		2203	4300	6503	MAPK9	SO:0001627	intron_variant	0			GMAF=0.0005	HGNC	U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.688+25C>T	5.37:g.179674413G>A		Somatic	0	59	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	33	44	42.86	A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK	p.P238	ENST00000452135.2	37	c.714	CCDS4453.1	5																																																																																			-	smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.532	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK9	protein_coding	OTTHUMT00000253530.3	G		rs200094588		179674413	-1	no_errors	ENST00000425491	ensembl	human	known	74_37	silent	SNP	0.944	A
MAP2K3	5606	genome.wustl.edu	37	17	21204268	21204268	+	Missense_Mutation	SNP	T	T	C			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr17:21204268T>C	ENST00000342679.4	+	5	611	c.362T>C	c.(361-363)tTc>tCc	p.F121S	MAP2K3_ENST00000361818.5_Missense_Mutation_p.F92S|MAP2K3_ENST00000316920.6_Missense_Mutation_p.F92S	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	121	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GTCGACTGTTTCTACACTGTC	0.597																																																	0								ENSG00000034152						200.0	164.0	176.0					17																	21204268		2203	4300	6503	MAP2K3	SO:0001583	missense	0			-	HGNC	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.362T>C	17.37:g.21204268T>C	ENSP00000345083:p.Phe121Ser	Somatic	0	46	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	76	11.63	B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	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.F121S	ENST00000342679.4	37	c.362	CCDS11217.1	17	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086361	0.36855	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000526076;ENST00000316920	T;T;D	0.88664	1.14;1.14;-2.41	5.22	4.15	0.48705	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	T	0.78541	0.4299	N	0.13098	0.295	0.42929	D	0.994318	B	0.32862	0.387	B	0.36608	0.229	T	0.72636	-0.4233	10	0.38643	T	0.18	-31.5058	5.9079	0.19010	0.1465:0.0775:0.0:0.776	.	121	P46734	MP2K3_HUMAN	S	121;92;92;92;125	ENSP00000345083:F121S;ENSP00000355081:F92S;ENSP00000434068:F92S	ENSP00000319139:F125S	F	+	2	0	MAP2K3	21144861	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.692000	0.37731	0.842000	0.35045	0.533000	0.62120	TTC	-	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		0.597	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K3	protein_coding	OTTHUMT00000259374.2	T	NM_145109	-		21204268	+1	no_errors	ENST00000342679	ensembl	human	known	74_37	missense	SNP	1.000	C
OS9	10956	genome.wustl.edu	37	12	58111971	58111971	+	Missense_Mutation	SNP	G	G	A			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr12:58111971G>A	ENST00000315970.7	+	11	1218	c.1177G>A	c.(1177-1179)Gca>Aca	p.A393T	OS9_ENST00000389142.5_Missense_Mutation_p.A393T|OS9_ENST00000257966.8_Missense_Mutation_p.A394T|OS9_ENST00000552285.1_Missense_Mutation_p.A393T|OS9_ENST00000435406.2_Missense_Mutation_p.A341T|OS9_ENST00000389146.6_Missense_Mutation_p.A393T|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000551035.1_Missense_Mutation_p.A361T|OS9_ENST00000439210.2_Missense_Mutation_p.A334T|OS9_ENST00000413095.2_Missense_Mutation_p.A187T	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	393					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGATGATGCTGCAGAAGTCCC	0.532																																																	0								ENSG00000135506						127.0	114.0	119.0					12																	58111971		2203	4300	6503	OS9	SO:0001583	missense	0			-	HGNC	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1177G>A	12.37:g.58111971G>A	ENSP00000318165:p.Ala393Thr	Somatic	0	13	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	92	154	37.40	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.A393T	ENST00000315970.7	37	c.1177	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956284	0.34565	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73;1.73	5.54	-6.58	0.01836	.	0.952854	0.08753	N	0.898891	T	0.08358	0.0208	N	0.04880	-0.145	0.09310	N	1	B;B;P;B;B;B;B;B	0.36086	0.024;0.0;0.536;0.003;0.051;0.002;0.0;0.001	B;B;B;B;B;B;B;B	0.38954	0.007;0.002;0.286;0.004;0.012;0.002;0.001;0.001	T	0.27806	-1.0063	10	0.11485	T	0.65	.	2.2715	0.04092	0.4773:0.0943:0.1538:0.2746	.	334;361;187;394;393;393;393;393	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	T	393;393;334;393;187;361;394;341;393	ENSP00000450010:A393T;ENSP00000318165:A393T;ENSP00000407360:A334T;ENSP00000373798:A393T;ENSP00000413112:A187T;ENSP00000447866:A361T;ENSP00000257966:A394T;ENSP00000389632:A341T;ENSP00000373794:A393T	ENSP00000257966:A394T	A	+	1	0	OS9	56398238	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.441000	0.06879	-0.928000	0.03761	-0.181000	0.13052	GCA	-	NULL		0.532	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	protein_coding	OTTHUMT00000408344.1	G	NM_006812	-		58111971	+1	no_errors	ENST00000315970	ensembl	human	known	74_37	missense	SNP	0.000	A
KDM4B	23030	genome.wustl.edu	37	19	5133999	5133999	+	Missense_Mutation	SNP	G	G	A			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr19:5133999G>A	ENST00000159111.4	+	14	2230	c.2012G>A	c.(2011-2013)aGg>aAg	p.R671K	KDM4B_ENST00000536461.1_Missense_Mutation_p.R705K	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	671					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CAGGCCGAGAGGAAGTTCAAC	0.662																																																	0								ENSG00000127663						70.0	82.0	78.0					19																	5133999		2203	4300	6503	KDM4B	SO:0001583	missense	0			-	HGNC	AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2012G>A	19.37:g.5133999G>A	ENSP00000159111:p.Arg671Lys	Somatic	0	74	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	36	65	35.64	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.R671K	ENST00000159111.4	37	c.2012	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140365	0.37825	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.40225	1.04;1.04	3.87	2.78	0.32641	.	0.308673	0.33834	N	0.004520	T	0.30759	0.0775	L	0.45352	1.415	0.28907	N	0.892935	B;B	0.30236	0.08;0.274	B;B	0.31442	0.084;0.13	T	0.26849	-1.0091	10	0.05351	T	0.99	-35.631	13.2736	0.60175	0.0:0.1609:0.8391:0.0	.	705;671	F5GX28;O94953	.;KDM4B_HUMAN	K	671;705	ENSP00000159111:R671K;ENSP00000440495:R705K	ENSP00000159111:R671K	R	+	2	0	KDM4B	5084999	0.982000	0.34865	0.793000	0.32043	0.970000	0.65996	3.130000	0.50508	0.688000	0.31529	0.561000	0.74099	AGG	-	NULL		0.662	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	protein_coding	OTTHUMT00000450558.1	G	NM_015015	-		5133999	+1	no_errors	ENST00000159111	ensembl	human	known	74_37	missense	SNP	1.000	A
MAML2	84441	genome.wustl.edu	37	11	95718699	95718699	+	Silent	SNP	A	A	G			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr11:95718699A>G	ENST00000524717.1	-	4	3735	c.2451T>C	c.(2449-2451)taT>taC	p.Y817Y		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	817					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ACTTACCAGAATACTGAGCAG	0.323			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	0								ENSG00000184384						124.0	104.0	110.0					11																	95718699		1808	4069	5877	MAML2	SO:0001819	synonymous_variant	0			-	HGNC	AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2451T>C	11.37:g.95718699A>G		Somatic	0	68	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Neuroggenic_mastermind-like_N	p.Y817	ENST00000524717.1	37	c.2451	CCDS44714.1	11																																																																																			-	NULL		0.323	MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML2	protein_coding	OTTHUMT00000395540.1	A		-		95718699	-1	no_errors	ENST00000524717	ensembl	human	known	74_37	silent	SNP	1.000	G
H6PD	9563	genome.wustl.edu	37	1	9322245	9322246	+	Missense_Mutation	DNP	GC	GC	CA			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G|C	G|C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:9322245_9322246GC>CA	ENST00000377403.2	+	4	1175_1176	c.873_874GC>CA	c.(871-876)cgGCac>cgCAac	p.H292N	H6PD_ENST00000602477.1_Missense_Mutation_p.H303N	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	292	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		CTGTGCTGCGGCACAAGCTTCA	0.639																																																	0								ENSG00000049239																																			H6PD	SO:0001583	missense	0			-	HGNC	AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	Exception_encountered	1.37:g.9322245_9322246delinsCA	ENSP00000366620:p.His292Asn	Somatic	0	41	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	29|30	32.56|31.82	Q4TT33|Q66I35|Q68DT3	Silent|Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB	p.R291|p.H292N	ENST00000377403.2	37	c.873|c.874	CCDS101.1	1																																																																																			-	pfam_G6P_DH_C		0.639	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H6PD	protein_coding	OTTHUMT00000004928.2	G|C	NM_004285	-		9322245|9322246	+1	no_errors	ENST00000377403	ensembl	human	known	74_37	silent|missense	SNP	0.429|0.489	C|A
CEP170	9859	genome.wustl.edu	37	1	243328110	243328110	+	Missense_Mutation	SNP	G	G	A	rs199844027	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:243328110G>A	ENST00000366542.1	-	13	3203	c.3152C>T	c.(3151-3153)cCt>cTt	p.P1051L	RP11-261C10.4_ENST00000422938.1_RNA|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.P953L|CEP170_ENST00000490813.1_5'Flank|CEP170_ENST00000366543.1_Missense_Mutation_p.P953L	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1051	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CCGTCCATGAGGTTTACAAGA	0.423																																																	0								ENSG00000143702						34.0	32.0	32.0					1																	243328110		1792	4039	5831	CEP170	SO:0001583	missense	0			-	HGNC	AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3152C>T	1.37:g.243328110G>A	ENSP00000355500:p.Pro1051Leu	Somatic	0	37	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	49	14.04	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.P1051L	ENST00000366542.1	37	c.3152	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.67|10.67	1.415343|1.415343	0.25552|0.25552	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008	.|T;T;T	.|0.47869	.|0.84;0.85;0.83	5.15|5.15	5.15|5.15	0.70609|0.70609	.|.	.|0.404413	.|0.30464	.|N	.|0.009567	T|T	0.38453|0.38453	0.1041|0.1041	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	.|P;B;B;B	.|0.36616	.|0.561;0.096;0.096;0.072	.|B;B;B;B	.|0.34779	.|0.189;0.033;0.033;0.05	T|T	0.16247|0.16247	-1.0409|-1.0409	5|10	.|0.24483	.|T	.|0.36	0.6847|0.6847	17.6292|17.6292	0.88102|0.88102	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1014;953;953;1051	.|B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;.;CE170_HUMAN	F|L	1015|1051;953;953;12	.|ENSP00000355500:P1051L;ENSP00000355502:P953L;ENSP00000355501:P953L	.|ENSP00000355500:P1051L	L|P	-|-	1|2	0|0	CEP170|CEP170	241394733|241394733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.701000|0.701000	0.40568|0.40568	7.185000|7.185000	0.77714|0.77714	2.390000|2.390000	0.81377|0.81377	0.555000|0.555000	0.69702|0.69702	CTC|CCT	-	NULL		0.423	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	protein_coding	OTTHUMT00000096178.2	G	NM_014812	rs199844027		243328110	-1	no_errors	ENST00000366542	ensembl	human	known	74_37	missense	SNP	1.000	A
ACADVL	37	genome.wustl.edu	37	17	7123240	7123241	+	5'UTR	INS	-	-	GGGCGTGCCGGACGC	rs77051465|rs550196368|rs3835013|rs6145976|rs139223575|rs421019	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr17:7123240_7123241insGGGCGTGCCGGACGC	ENST00000356839.5	+	0	116_117				ACADVL_ENST00000543245.2_Intron|ACADVL_ENST00000350303.5_5'UTR|DLG4_ENST00000302955.6_5'Flank|DLG4_ENST00000399506.2_5'Flank|DLG4_ENST00000485100.1_5'Flank|DLG4_ENST00000399510.2_5'Flank	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|energy derivation by oxidation of organic compounds (GO:0015980)|epithelial cell differentiation (GO:0030855)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of fatty acid oxidation (GO:0046322)|regulation of cholesterol metabolic process (GO:0090181)|small molecule metabolic process (GO:0044281)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|long-chain-acyl-CoA dehydrogenase activity (GO:0004466)			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						CGCCAGGACGTGGGCGTGCAGG	0.713																																																	0								ENSG00000072778																																			ACADVL	SO:0001623	5_prime_UTR_variant	0				HGNC	BC012912	CCDS11090.1, CCDS42249.1, CCDS58509.1	17p13.1	2010-04-30	2010-04-30		ENSG00000072778	ENSG00000072778			92	protein-coding gene	gene with protein product		609575	"""acyl-Coenzyme A dehydrogenase, very long chain"""			8921384	Standard	NM_000018		Approved	VLCAD, LCACD, ACAD6	uc002gev.4	P49748	OTTHUMG00000102157	ENST00000356839.5:c.-63->GGGCGTGCCGGACGC	17.37:g.7123240_7123241insGGGCGTGCCGGACGC		Somatic	NA	NA	NA		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B4DEB6|F5H2A9|O76056|Q8WUL0	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000356839.5	37	NULL	CCDS11090.1	17																																																																																			-	-		0.713	ACADVL-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ACADVL	protein_coding	OTTHUMT00000220001.5	-	NM_000018			7123241	+1	no_errors	ENST00000577857	ensembl	human	known	74_37	rna	INS	0.000:0.000	GGGCGTGCCGGACGC
RGPD3	653489	genome.wustl.edu	37	2	107068731	107068731	+	Missense_Mutation	SNP	C	C	T	rs200225138	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr2:107068731C>T	ENST00000409886.3	-	6	799	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	RGPD3_ENST00000304514.7_Missense_Mutation_p.A238T	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	238					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTAGCATAGGCCAGCAGTAAG	0.403																																																	0								ENSG00000153165																																			RGPD3	SO:0001583	missense	0			-	HGNC		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.712G>A	2.37:g.107068731C>T	ENSP00000386588:p.Ala238Thr	Somatic	0	23	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	35	18.60	B8ZZM4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.A238T	ENST00000409886.3	37	c.712	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	11.07	1.530467	0.27387	.	.	ENSG00000153165	ENST00000409886;ENST00000304514	T;T	0.30448	1.53;1.53	2.69	2.69	0.31865	Tetratricopeptide-like helical (1);	.	.	.	.	T	0.47210	0.1433	M	0.64997	1.995	0.28094	N	0.931705	D	0.57571	0.98	P	0.61658	0.892	T	0.31696	-0.9934	9	0.59425	D	0.04	-8.6369	11.1609	0.48516	0.0:1.0:0.0:0.0	.	238	A6NKT7	RGPD3_HUMAN	T	238	ENSP00000386588:A238T;ENSP00000303659:A238T	ENSP00000303659:A238T	A	-	1	0	RGPD3	106435163	1.000000	0.71417	0.987000	0.45799	0.583000	0.36354	5.266000	0.65525	1.501000	0.48654	0.186000	0.17326	GCC	-	NULL		0.403	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	protein_coding	OTTHUMT00000329975.1	C	XM_929931	rs200225138		107068731	-1	no_errors	ENST00000304514	ensembl	human	known	74_37	missense	SNP	0.999	T
HELT	391723	genome.wustl.edu	37	4	185940855	185940855	+	Intron	SNP	C	C	A	rs568316271		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr4:185940855C>A	ENST00000515777.1	+	3	220				HELT_ENST00000505610.1_Intron|HELT_ENST00000338875.4_Missense_Mutation_p.D114E			A6NFD8	HELT_HUMAN	helt bHLH transcription factor						central nervous system development (GO:0007417)|GABAergic neuron differentiation in basal ganglia (GO:0021858)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CAGTGCCCGACCAGCAGGCGC	0.687																																																	0								ENSG00000187821																																			HELT	SO:0001627	intron_variant	0			-	HGNC	BC144567	CCDS75214.1, CCDS75215.1	4q35.1	2014-07-17	2011-09-12		ENSG00000187821	ENSG00000187821		"""Basic helix-loop-helix proteins"""	33783	protein-coding gene	gene with protein product	"""megane bHLH factor"", ""HES-like"""		"""Hey-like transcription factor (zebrafish)"", ""HES/HEY-like transcription factor"""			14764602, 17611227	Standard	XM_005262989		Approved	HESL, HCM1228, Mgn, bHLHb44, MEGANE	uc011ckq.2	A6NFD8	OTTHUMG00000160484	ENST00000515777.1:c.133-46C>A	4.37:g.185940855C>A		Somatic	0	14	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	11	59.26	B2RTS5|B7ZMI7|B7ZMI8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_Orange,pfscan_bHLH_dom	p.D114E	ENST00000515777.1	37	c.342		4	.	.	.	.	.	.	.	.	.	.	C	7.590	0.670524	0.14776	.	.	ENSG00000187821	ENST00000338875	T	0.22134	1.97	4.36	2.56	0.30785	Helix-loop-helix DNA-binding (4);	.	.	.	.	T	0.09730	0.0239	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40079	-0.9582	9	0.02654	T	1	.	5.0718	0.14611	0.2145:0.6763:0.0:0.1092	.	114	A6NFD8	HELT_HUMAN	E	114	ENSP00000343464:D114E	ENSP00000343464:D114E	D	+	3	2	HELT	186177849	.	.	0.003000	0.11579	0.022000	0.10575	.	.	0.546000	0.28920	0.561000	0.74099	GAC	-	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom		0.687	HELT-002	NOVEL	basic|appris_candidate_longest	protein_coding	HELT	protein_coding	OTTHUMT00000360792.1	C	NM_001300781	-		185940855	+1	no_errors	ENST00000338875	ensembl	human	known	74_37	missense	SNP	0.003	A
DRC7	84229	genome.wustl.edu	37	16	57760001	57760001	+	Missense_Mutation	SNP	C	C	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr16:57760001C>T	ENST00000360716.3	+	14	2001	c.1780C>T	c.(1780-1782)Cgc>Tgc	p.R594C	CCDC135_ENST00000394337.4_Missense_Mutation_p.R594C|CCDC135_ENST00000336825.8_Missense_Mutation_p.R529C			Q8IY82	CC135_HUMAN		594					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCGGTTCTTCCGCAACCCAGC	0.602																																																	0								ENSG00000159625						40.0	35.0	37.0					16																	57760001		2198	4298	6496	CCDC135	SO:0001583	missense	0			-	HGNC																												ENST00000360716.3:c.1780C>T	16.37:g.57760001C>T	ENSP00000353942:p.Arg594Cys	Somatic	0	44	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	13	53.57	A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R594C	ENST00000360716.3	37	c.1780	CCDS10787.1	16	.	.	.	.	.	.	.	.	.	.	.	14.97	2.694225	0.48202	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.20463	2.26;2.07;2.26	4.87	4.87	0.63330	.	0.108371	0.64402	D	0.000013	T	0.49406	0.1555	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.56074	-0.8039	10	0.87932	D	0	-30.8412	10.7779	0.46361	0.2988:0.7012:0.0:0.0	.	529;594	Q8IY82-2;Q8IY82	.;CC135_HUMAN	C	594;529;594	ENSP00000377869:R594C;ENSP00000338938:R529C;ENSP00000353942:R594C	ENSP00000338938:R529C	R	+	1	0	CCDC135	56317502	0.993000	0.37304	0.985000	0.45067	0.180000	0.23129	3.116000	0.50399	2.253000	0.74438	0.655000	0.94253	CGC	-	NULL		0.602	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC135	protein_coding	OTTHUMT00000433323.2	C		-		57760001	+1	no_errors	ENST00000360716	ensembl	human	known	74_37	missense	SNP	0.997	T
TUB	7275	genome.wustl.edu	37	11	8119343	8119343	+	Missense_Mutation	SNP	G	G	C			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr11:8119343G>C	ENST00000299506.2	+	8	1117	c.968G>C	c.(967-969)cGa>cCa	p.R323P	TUB_ENST00000534099.1_Missense_Mutation_p.R329P|TUB_ENST00000305253.4_Missense_Mutation_p.R378P	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	323					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)		GACTTGTCTCGAGGAGGGGAC	0.562																																																	0								ENSG00000166402						133.0	137.0	135.0					11																	8119343		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.968G>C	11.37:g.8119343G>C	ENSP00000299506:p.Arg323Pro	Somatic	0	43	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	28	39.13	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.R378P	ENST00000299506.2	37	c.1133	CCDS7787.1	11	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804500	0.90623	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.97642	-4.47;-4.47;-4.47	4.7	4.7	0.59300	Tubby, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.98642	0.9545	M	0.88704	2.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	D	0.99683	1.0999	10	0.66056	D	0.02	-0.5362	17.9944	0.89178	0.0:0.0:1.0:0.0	.	329;323;378	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	P	329;378;323	ENSP00000434400:R329P;ENSP00000305426:R378P;ENSP00000299506:R323P	ENSP00000299506:R323P	R	+	2	0	TUB	8075919	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.327000	0.79052	0.585000	0.79938	CGA	-	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C		0.562	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	protein_coding	OTTHUMT00000385823.1	G	NM_003320	-		8119343	+1	no_errors	ENST00000305253	ensembl	human	known	74_37	missense	SNP	1.000	C
PPP1R16A	84988	genome.wustl.edu	37	8	145724311	145724311	+	Missense_Mutation	SNP	G	G	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr8:145724311G>T	ENST00000292539.4	+	4	1260	c.343G>T	c.(343-345)Gat>Tat	p.D115Y	CTD-2517M14.5_ENST00000569326.1_RNA|PPP1R16A_ENST00000435887.1_Missense_Mutation_p.D115Y|CTD-2517M22.14_ENST00000532766.1_RNA			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	115						plasma membrane (GO:0005886)				NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CTGCATTGATGATTTCCGAGA	0.652																																																	0								ENSG00000160972						67.0	55.0	59.0					8																	145724311		2203	4300	6503	PPP1R16A	SO:0001583	missense	0			-	HGNC		CCDS6429.1	8q24.3	2013-01-10	2011-10-04		ENSG00000160972	ENSG00000160972		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14941	protein-coding gene	gene with protein product		609172	"""protein phosphatase 1, regulatory (inhibitor) subunit 16A"""			11948623	Standard	NM_032902		Approved	MGC14333, MYPT3	uc003zdf.3	Q96I34	OTTHUMG00000165173	ENST00000292539.4:c.343G>T	8.37:g.145724311G>T	ENSP00000292539:p.Asp115Tyr	Somatic	0	44	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	15	16.67	D3DWM5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D115Y	ENST00000292539.4	37	c.343	CCDS6429.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.005104|4.005104	0.74932|0.74932	.|.	.|.	ENSG00000160972|ENSG00000255182	ENST00000292539;ENST00000435887|ENST00000527086	T;T|.	0.54866|.	0.55;0.55|.	5.0|5.0	5.0|5.0	0.66597|0.66597	Ankyrin repeat-containing domain (4);|.	0.054658|.	0.64402|.	D|.	0.000001|.	T|.	0.76097|.	0.3940|.	M|M	0.79475|0.79475	2.455|2.455	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|.	0.77613|.	-0.2522|.	10|.	0.66056|.	D|.	0.02|.	.|.	15.7821|15.7821	0.78269|0.78269	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	115|.	Q96I34|.	PP16A_HUMAN|.	Y|X	115|43	ENSP00000292539:D115Y;ENSP00000391126:D115Y|.	ENSP00000292539:D115Y|.	D|S	+|-	1|2	0|0	PPP1R16A|CTD-2517M22.14	145695119|145695119	0.810000|0.810000	0.29049|0.29049	0.949000|0.949000	0.38748|0.38748	0.746000|0.746000	0.42486|0.42486	1.897000|1.897000	0.39799|0.39799	2.316000|2.316000	0.78162|0.78162	0.462000|0.462000	0.41574|0.41574	GAT|TCA	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.652	PPP1R16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16A	protein_coding	OTTHUMT00000382459.1	G	NM_032902	-		145724311	+1	no_errors	ENST00000292539	ensembl	human	known	74_37	missense	SNP	1.000	T
HSP90AA1	3320	genome.wustl.edu	37	14	102548534	102548534	+	Missense_Mutation	SNP	T	T	G			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr14:102548534T>G	ENST00000216281.8	-	10	2208	c.2003A>C	c.(2002-2004)gAa>gCa	p.E668A	HSP90AA1_ENST00000334701.7_Missense_Mutation_p.E790A	NM_005348.3	NP_005339.3	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	668					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone-mediated protein complex assembly (GO:0051131)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G2/M transition of mitotic cell cycle (GO:0000086)|innate immune response (GO:0045087)|mitochondrial transport (GO:0006839)|mitotic cell cycle (GO:0000278)|nitric oxide metabolic process (GO:0046209)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein import into mitochondrial outer membrane (GO:0045040)|protein refolding (GO:0042026)|regulation of nitric-oxide synthase activity (GO:0050999)|response to unfolded protein (GO:0006986)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|identical protein binding (GO:0042802)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|TPR domain binding (GO:0030911)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Nedocromil(DB00716)|Rifabutin(DB00615)	GAGCGCAGTTTCATAAAGCAA	0.453																																																	0								ENSG00000080824						108.0	102.0	104.0					14																	102548534		2203	4300	6503	HSP90AA1	SO:0001583	missense	0			-	HGNC	M27024	CCDS9967.1, CCDS32160.1	14q32.33	2011-09-02	2006-02-24	2006-02-24	ENSG00000080824	ENSG00000080824		"""Heat shock proteins / HSPC"""	5253	protein-coding gene	gene with protein product		140571	"""heat shock 90kD protein 1, alpha"", ""heat shock 90kDa protein 1, alpha"""	HSPC1, HSPCA		2527334, 16269234	Standard	NM_001017963		Approved	Hsp89, Hsp90, FLJ31884, HSP90N	uc001ykv.4	P07900		ENST00000216281.8:c.2003A>C	14.37:g.102548534T>G	ENSP00000216281:p.Glu668Ala	Somatic	0	93	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	47	72	39.50	A8K500|B3KPJ9|Q2PP14|Q5CAQ6|Q5CAQ7|Q9BVQ5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N	p.E790A	ENST00000216281.8	37	c.2369	CCDS9967.1	14	.	.	.	.	.	.	.	.	.	.	t	24.0	4.481861	0.84747	.	.	ENSG00000080824	ENST00000216281;ENST00000334701	T;T	0.46819	0.86;0.86	4.47	4.47	0.54385	.	0.000000	0.85682	U	0.000000	T	0.74869	0.3773	M	0.93106	3.38	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.994;0.996	T	0.82202	-0.0574	10	0.87932	D	0	-19.727	14.1096	0.65113	0.0:0.0:0.0:1.0	.	790;668	P07900-2;P07900	.;HS90A_HUMAN	A	668;790	ENSP00000216281:E668A;ENSP00000335153:E790A	ENSP00000216281:E668A	E	-	2	0	HSP90AA1	101618287	1.000000	0.71417	0.838000	0.33150	0.966000	0.64601	7.724000	0.84798	1.805000	0.52779	0.473000	0.43528	GAA	-	pirsf_Hsp90_fam,pfam_Hsp90_fam		0.453	HSP90AA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HSP90AA1	protein_coding	OTTHUMT00000414952.2	T	NM_005348	-		102548534	-1	no_errors	ENST00000334701	ensembl	human	known	74_37	missense	SNP	1.000	G
ARID2	196528	genome.wustl.edu	37	12	46244344	46244344	+	Missense_Mutation	SNP	C	C	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr12:46244344C>T	ENST00000334344.6	+	15	2610	c.2438C>T	c.(2437-2439)tCt>tTt	p.S813F	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Missense_Mutation_p.S423F|ARID2_ENST00000422737.1_Missense_Mutation_p.S664F|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	813	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S813fs*9(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCATGTACTTCTACAGTTTCA	0.458			"""N, S, F"""		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	1	Deletion - Frameshift(1)	liver(1)						ENSG00000189079						129.0	108.0	115.0					12																	46244344		2203	4300	6503	ARID2	SO:0001583	missense	0			-	HGNC		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.2438C>T	12.37:g.46244344C>T	ENSP00000335044:p.Ser813Phe	Somatic	0	39	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	46	23.33	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S813F	ENST00000334344.6	37	c.2438	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780618	0.70222	.	.	ENSG00000189079	ENST00000334344;ENST00000422737;ENST00000444670	T	0.34275	1.37	5.83	5.83	0.93111	.	0.268590	0.44483	D	0.000449	T	0.39279	0.1072	L	0.27053	0.805	0.80722	D	1	P;P;P	0.42123	0.693;0.693;0.771	B;P;B	0.46975	0.405;0.533;0.424	T	0.14839	-1.0458	10	0.56958	D	0.05	-6.9591	20.1152	0.97926	0.0:1.0:0.0:0.0	.	813;423;813	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	F	813;664;423	ENSP00000335044:S813F	ENSP00000335044:S813F	S	+	2	0	ARID2	44530611	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.177000	0.58276	2.750000	0.94351	0.655000	0.94253	TCT	-	NULL		0.458	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	protein_coding	OTTHUMT00000318380.2	C	XM_350875	-		46244344	+1	no_errors	ENST00000334344	ensembl	human	known	74_37	missense	SNP	1.000	T
HELZ2	85441	genome.wustl.edu	37	20	62202972	62202972	+	Intron	SNP	G	G	A			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr20:62202972G>A	ENST00000467148.1	-	1	348				HELZ2_ENST00000479540.1_5'UTR	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator						cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CTCCTGCCCCGCTCCAAGCTC	0.677																																																	0								ENSG00000130589																																			HELZ2	SO:0001627	intron_variant	0			-	HGNC	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.278+488C>T	20.37:g.62202972G>A		Somatic	0	33	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	56	18.57	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000467148.1	37	NULL	CCDS33508.1	20																																																																																			-	-		0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	protein_coding	OTTHUMT00000354127.1	G	NM_001037335	-		62202972	-1	no_errors	ENST00000479540	ensembl	human	known	74_37	rna	SNP	0.490	A
MTRNR2L1	100462977	genome.wustl.edu	37	17	22024142	22024142	+	IGR	SNP	C	C	T	rs374140817		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr17:22024142C>T	ENST00000540040.1	+	0	1555				RP11-846F4.12_ENST00000483901.2_RNA|MTND1P15_ENST00000579693.1_RNA	NM_001190452.1	NP_001177381.1			MT-RNR2-like 1																		AATGAAAAATCCTAGGCTACA	0.413																																																	0								ENSG00000264168																																			MTND1P15	SO:0001628	intergenic_variant	0			-	HGNC	CR612552	CCDS54097.1	17p11.2	2014-02-18			ENSG00000256618	ENSG00000256618			37155	protein-coding gene	gene with protein product	"""humanin-like 1"""					19477263	Standard	NM_001190452		Approved		uc002gzb.2	P0CJ68	OTTHUMG00000179068		17.37:g.22024142C>T		Somatic	0	16	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	19	29.63		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000540040.1	37	NULL	CCDS54097.1	17																																																																																			-	-		0.413	MTRNR2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTND1P15	protein_coding	OTTHUMT00000444600.2	C	NM_001190452	-		22024142	+1	no_errors	ENST00000579693	ensembl	human	known	74_37	rna	SNP	0.125	T
TAPT1	202018	genome.wustl.edu	37	4	16165055	16165055	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr4:16165055delA	ENST00000405303.2	-	14	1663	c.1580delT	c.(1579-1581)ttgfs	p.L527fs	TAPT1_ENST00000399920.3_Frame_Shift_Del_p.L416fs|TAPT1_ENST00000304584.8_3'UTR	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	527					embryonic skeletal system development (GO:0048706)|G-protein coupled receptor signaling pathway (GO:0007186)|in utero embryonic development (GO:0001701)|post-embryonic development (GO:0009791)	integral component of membrane (GO:0016021)	growth hormone-releasing hormone receptor activity (GO:0016520)			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TGGAGTTGTCAAAAACTGATC	0.383																																																	0								ENSG00000169762						178.0	171.0	173.0					4																	16165055		1898	4129	6027	TAPT1	SO:0001589	frameshift_variant	0				HGNC	AK074494	CCDS47030.1	4p15.32	2014-01-28			ENSG00000169762	ENSG00000169762			26887	protein-coding gene	gene with protein product		612758				12477932	Standard	NM_153365		Approved	FLJ90013	uc010ied.1	Q6NXT6	OTTHUMG00000160177	ENST00000405303.2:c.1580delT	4.37:g.16165055delA	ENSP00000385347:p.Leu527fs	Somatic	0	42	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	66	9.59	Q8N2S3|Q9NZK9	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Membrane_Tatp1/CMV_rcpt	p.L527fs	ENST00000405303.2	37	c.1580	CCDS47030.1	4																																																																																			-	NULL		0.383	TAPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAPT1	protein_coding	OTTHUMT00000359568.1	A	NM_153365			16165055	-1	no_errors	ENST00000405303	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
OS9	10956	genome.wustl.edu	37	12	58111997	58111997	+	Silent	SNP	G	G	A			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr12:58111997G>A	ENST00000315970.7	+	11	1244	c.1203G>A	c.(1201-1203)gaG>gaA	p.E401E	OS9_ENST00000389142.5_Silent_p.E401E|OS9_ENST00000257966.8_Silent_p.E402E|OS9_ENST00000552285.1_Silent_p.E401E|OS9_ENST00000435406.2_Silent_p.E349E|OS9_ENST00000389146.6_Silent_p.E401E|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000551035.1_Silent_p.E369E|OS9_ENST00000439210.2_Silent_p.E342E|OS9_ENST00000413095.2_Silent_p.E195E	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	401					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGGAACCAGAGAAGGAAAGGG	0.537																																																	0								ENSG00000135506						166.0	147.0	153.0					12																	58111997		2203	4300	6503	OS9	SO:0001819	synonymous_variant	0			-	HGNC	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1203G>A	12.37:g.58111997G>A		Somatic	0	15	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	103	173	37.32	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.E401	ENST00000315970.7	37	c.1203	CCDS31843.1	12																																																																																			-	NULL		0.537	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	protein_coding	OTTHUMT00000408344.1	G	NM_006812	-		58111997	+1	no_errors	ENST00000315970	ensembl	human	known	74_37	silent	SNP	0.006	A
C16orf58	64755	genome.wustl.edu	37	16	31512021	31512021	+	Missense_Mutation	SNP	A	A	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr16:31512021A>T	ENST00000327237.2	-	3	486	c.447T>A	c.(445-447)ttT>ttA	p.F149L	C16orf58_ENST00000567994.1_Missense_Mutation_p.F104L|C16orf58_ENST00000570164.1_Missense_Mutation_p.F149L|C16orf58_ENST00000430477.2_Missense_Mutation_p.F7L			Q96GQ5	RUS1_HUMAN	chromosome 16 open reading frame 58	149						integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						TCCACCAGGCAAAGACGATGC	0.532																																																	0								ENSG00000140688						91.0	88.0	89.0					16																	31512021		2197	4300	6497	C16orf58	SO:0001583	missense	0			-	HGNC	AK023930	CCDS10715.1	16p11.2	2013-03-04			ENSG00000140688	ENSG00000140688			25848	protein-coding gene	gene with protein product							Standard	NM_022744		Approved	FLJ13868	uc002eci.3	Q96GQ5	OTTHUMG00000132466	ENST00000327237.2:c.447T>A	16.37:g.31512021A>T	ENSP00000317579:p.Phe149Leu	Somatic	0	25	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	10	61.54	Q53GL8|Q8NAJ4|Q9BVY3|Q9H887	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RUS2/WXR1	p.L111*	ENST00000327237.2	37	c.332	CCDS10715.1	16	.	.	.	.	.	.	.	.	.	.	A	22.1	4.239123	0.79800	.	.	ENSG00000140688	ENST00000327237;ENST00000452223;ENST00000541442;ENST00000430477	T;T	0.49720	0.77;0.77	5.55	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.63534	0.2519	M	0.86740	2.835	0.52501	D	0.999957	P;P	0.46512	0.75;0.879	P;P	0.54460	0.753;0.658	T	0.63915	-0.6529	10	0.37606	T	0.19	-27.4671	9.417	0.38528	0.916:0.0:0.084:0.0	.	7;149	B4DJP2;Q96GQ5	.;CP058_HUMAN	L	149;103;149;7	ENSP00000317579:F149L;ENSP00000398074:F7L	ENSP00000317579:F149L	F	-	3	2	C16orf58	31419522	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.356000	0.44116	0.938000	0.37419	0.455000	0.32223	TTT	-	NULL		0.532	C16orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf58	protein_coding	OTTHUMT00000255629.2	A	NM_022744	-		31512021	-1	no_errors	ENST00000565128	ensembl	human	known	74_37	nonsense	SNP	1.000	T
KIAA1211	57482	genome.wustl.edu	37	4	57180576	57180577	+	In_Frame_Ins	INS	-	-	GGAGCGGAGGGAGCGGAG	rs71921617|rs138358443|rs11276076	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr4:57180576_57180577insGGAGCGGAGGGAGCGGAG	ENST00000504228.1	+	6	1013_1014	c.908_909insGGAGCGGAGGGAGCGGAG	c.(907-912)gcggag>gcGGAGCGGAGGGAGCGGAGggag	p.304_305insRRERRE	KIAA1211_ENST00000264229.6_In_Frame_Ins_p.304_305insRRERRE|KIAA1211_ENST00000541073.1_In_Frame_Ins_p.297_298insRRERRE			Q6ZU35	K1211_HUMAN	KIAA1211	304	Glu-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TGGGAGGACGCGGAGCGGAGGG	0.733														1350	0.269569	0.2716	0.2781	5008	,	,		14300	0.0694		0.4076	False		,,,				2504	0.3252																0								ENSG00000109265			903,2311		258,387,962						-10.2	0.0		dbSNP_130	6	2065,4451		612,841,1805	no	coding	KIAA1211	NM_020722.1		870,1228,2767	A1A1,A1R,RR		31.6912,28.0958,30.5036				2968,6762				KIAA1211	SO:0001652	inframe_insertion	0				HGNC	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	Exception_encountered	4.37:g.57180576_57180577insGGAGCGGAGGGAGCGGAG	ENSP00000423366:p.Glu304_Arg305insArgArgGluArgArgGlu	Somatic	NA	NA	NA		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q9NTE2|Q9NTP8|Q9ULK9	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	NULL	p.307in_frame_insERRERR	ENST00000504228.1	37	c.908_909	CCDS43230.1	4																																																																																			-	NULL		0.733	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	protein_coding	OTTHUMT00000362097.2	-	NM_020722			57180577	+1	no_errors	ENST00000504228	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.000	GGAGCGGAGGGAGCGGAG
FMN1	342184	genome.wustl.edu	37	15	33359026	33359026	+	Intron	SNP	G	G	C			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr15:33359026G>C	ENST00000559047.1	-	3	2043				FMN1_ENST00000558197.1_Missense_Mutation_p.P354A|FMN1_ENST00000561249.1_Intron|FMN1_ENST00000334528.9_Missense_Mutation_p.P354A|FMN1_ENST00000559150.1_Intron			Q68DA7	FMN1_HUMAN	formin 1						actin nucleation (GO:0045010)	actin filament (GO:0005884)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCAGTTTTGGGCATGTCAATG	0.572																																																	0								ENSG00000248905						72.0	74.0	73.0					15																	33359026		2014	4180	6194	FMN1	SO:0001627	intron_variant	0			-	HGNC	AH002864	CCDS45209.1, CCDS61581.1, CCDS61582.1	15q13.3	2013-06-13	2005-01-20	2005-01-22	ENSG00000248905	ENSG00000248905			3768	protein-coding gene	gene with protein product	"""limb deformity protein"""	136535	"""formin (limb deformity)"""	LD, FMN		1673046	Standard	NM_001277313		Approved	DKFZP686C2281, FLJ45135, MGC125288, MGC125289	uc031qrh.1	Q68DA7	OTTHUMG00000172201	ENST00000559047.1:c.2044-1751C>G	15.37:g.33359026G>C		Somatic	0	64	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	44	24.14	Q3B7I6|Q3ZAR4|Q6ZSY1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam	p.P354A	ENST00000559047.1	37	c.1060		15	.	.	.	.	.	.	.	.	.	.	G	12.59	1.983694	0.35036	.	.	ENSG00000248905	ENST00000334528	T	0.38401	1.14	5.83	4.92	0.64577	.	1.003210	0.08020	N	0.991801	T	0.34279	0.0892	.	.	.	.	.	.	P;B	0.45531	0.86;0.167	P;B	0.44561	0.453;0.048	T	0.13495	-1.0507	8	0.23302	T	0.38	.	10.4972	0.44785	0.1628:0.0:0.8372:0.0	.	354;354	Q68DA7-3;Q68DA7-5	.;.	A	354	ENSP00000333950:P354A	ENSP00000333950:P354A	P	-	1	0	FMN1	31146318	1.000000	0.71417	0.993000	0.49108	0.565000	0.35776	3.130000	0.50508	1.476000	0.48215	-0.163000	0.13421	CCC	-	NULL		0.572	FMN1-005	NOVEL	basic|exp_conf	protein_coding	FMN1	protein_coding	OTTHUMT00000417414.1	G	NM_001103184	-		33359026	-1	no_errors	ENST00000334528	ensembl	human	known	74_37	missense	SNP	0.997	C
SAMHD1	25939	genome.wustl.edu	37	20	35545145	35545145	+	Missense_Mutation	SNP	G	G	A			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr20:35545145G>A	ENST00000262878.4	-	9	1241	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	SAMHD1_ENST00000373694.5_Missense_Mutation_p.R133C	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	348					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.R348C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GCACAAATACGCAACTCATTG	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)						ENSG00000101347						204.0	221.0	215.0					20																	35545145		2203	4300	6503	SAMHD1	SO:0001583	missense	0			-	HGNC	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1042C>T	20.37:g.35545145G>A	ENSP00000262878:p.Arg348Cys	Somatic	0	37	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	48	17.24	B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM	p.R348C	ENST00000262878.4	37	c.1042	CCDS13288.1	20	.	.	.	.	.	.	.	.	.	.	G	15.65	2.897650	0.52121	.	.	ENSG00000101347	ENST00000262878;ENST00000373694	D;D	0.95447	-3.71;-2.46	5.67	3.74	0.42951	HD domain (1);	0.442134	0.26959	N	0.021632	D	0.92149	0.7511	L	0.39898	1.24	0.49389	D	0.999788	P	0.44659	0.84	B	0.40741	0.339	D	0.90695	0.4616	10	0.72032	D	0.01	-2.3505	11.6988	0.51558	0.1438:0.0:0.8562:0.0	.	348	Q9Y3Z3	SAMH1_HUMAN	C	348;133	ENSP00000262878:R348C;ENSP00000362798:R133C	ENSP00000262878:R348C	R	-	1	0	SAMHD1	34978559	1.000000	0.71417	0.394000	0.26270	0.839000	0.47603	3.065000	0.49994	0.755000	0.32990	0.591000	0.81541	CGT	-	NULL		0.383	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAMHD1	protein_coding	OTTHUMT00000079062.2	G	NM_015474	-		35545145	-1	no_errors	ENST00000262878	ensembl	human	known	74_37	missense	SNP	0.998	A
MMD2	221938	genome.wustl.edu	37	7	4959908	4959908	+	Missense_Mutation	SNP	C	C	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr7:4959908C>T	ENST00000404774.3	-	3	378	c.184G>A	c.(184-186)Gat>Aat	p.D62N	MMD2_ENST00000401401.3_Missense_Mutation_p.D62N|MMD2_ENST00000406755.1_Missense_Mutation_p.D62N	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	62						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TCCCAGTCATCGTCCGACAGG	0.612																																																	0								ENSG00000136297						52.0	59.0	57.0					7																	4959908		2116	4229	6345	MMD2	SO:0001583	missense	0			-	HGNC	BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.184G>A	7.37:g.4959908C>T	ENSP00000384690:p.Asp62Asn	Somatic	0	53	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	60	14.08	B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_HlyIII-related	p.D62N	ENST00000404774.3	37	c.184	CCDS47529.1	7	.	.	.	.	.	.	.	.	.	.	C	11.55	1.671418	0.29693	.	.	ENSG00000136297	ENST00000404774;ENST00000406755;ENST00000401401	T;T;T	0.30448	1.53;1.53;1.53	4.44	4.44	0.53790	.	0.000000	0.85682	D	0.000000	T	0.30039	0.0752	L	0.45228	1.405	0.58432	D	0.999995	P;P;B	0.49447	0.867;0.924;0.046	B;B;B	0.42738	0.395;0.396;0.017	T	0.06716	-1.0811	10	0.38643	T	0.18	-31.3807	16.2468	0.82449	0.0:1.0:0.0:0.0	.	62;62;62	B5MBW4;Q8IY49;Q8IY49-2	.;PAQRA_HUMAN;.	N	62	ENSP00000384690:D62N;ENSP00000385963:D62N;ENSP00000384141:D62N	ENSP00000384141:D62N	D	-	1	0	MMD2	4926434	0.965000	0.33210	0.245000	0.24217	0.225000	0.24961	2.284000	0.43478	2.289000	0.77006	0.561000	0.74099	GAT	-	pfam_HlyIII-related		0.612	MMD2-001	KNOWN	basic|CCDS	protein_coding	MMD2	protein_coding	OTTHUMT00000324136.1	C	NM_198403	-		4959908	-1	no_errors	ENST00000404774	ensembl	human	known	74_37	missense	SNP	0.991	T
HIST2H2BE	8349	genome.wustl.edu	37	1	149857909	149857909	+	Missense_Mutation	SNP	C	C	G			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:149857909C>G	ENST00000369155.2	-	1	323	c.282G>C	c.(280-282)gaG>gaC	p.E94D	HIST2H2AC_ENST00000331380.2_5'Flank|BOLA1_ENST00000369153.2_5'Flank	NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	94					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCGTCTGGATCTCGCGGGATG	0.642																																																	0								ENSG00000184678						42.0	45.0	44.0					1																	149857909		2202	4294	6496	HIST2H2BE	SO:0001583	missense	0			-	HGNC	AY131979	CCDS936.1	1q21.2	2011-01-27	2006-10-11	2003-03-07	ENSG00000184678	ENSG00000184678		"""Histones / Replication-dependent"""	4760	protein-coding gene	gene with protein product		601831	"""H2B histone family, member Q"", ""histone 2, H2be"""	H2B, H2BFQ		1469070, 12408966	Standard	NM_003528		Approved	H2B/q, H2B.1	uc001etc.3	Q16778	OTTHUMG00000012095	ENST00000369155.2:c.282G>C	1.37:g.149857909C>G	ENSP00000358151:p.Glu94Asp	Somatic	0	88	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	68	12.82	A3KMC7|A8K110|Q4KMY1|Q5QNX0|Q9UE88	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E94D	ENST00000369155.2	37	c.282	CCDS936.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461924	0.84425	.	.	ENSG00000184678	ENST00000369155	T	0.44881	0.91	5.88	5.88	0.94601	Histone-fold (2);Histone core (1);	0.000000	0.85682	D	0.000000	T	0.37972	0.1023	L	0.60957	1.885	0.42148	D	0.991543	B	0.26400	0.148	B	0.35312	0.2	T	0.28996	-1.0026	10	0.66056	D	0.02	.	18.8885	0.92389	0.0:1.0:0.0:0.0	.	94	Q16778	H2B2E_HUMAN	D	94	ENSP00000358151:E94D	ENSP00000358151:E94D	E	-	3	2	HIST2H2BE	148124533	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.835000	0.62781	2.806000	0.96561	0.580000	0.79431	GAG	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.642	HIST2H2BE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H2BE	protein_coding	OTTHUMT00000033455.1	C	NM_003528	-		149857909	-1	no_errors	ENST00000369155	ensembl	human	known	74_37	missense	SNP	1.000	G
LSM14A	26065	genome.wustl.edu	37	19	34685495	34685495	+	Missense_Mutation	SNP	T	T	G			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr19:34685495T>G	ENST00000433627.5	+	2	309	c.234T>G	c.(232-234)tgT>tgG	p.C78W	LSM14A_ENST00000540746.2_Missense_Mutation_p.C78W|LSM14A_ENST00000544216.3_Missense_Mutation_p.C78W	NM_001114093.1	NP_001107565.1	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	78					cytoplasmic mRNA processing body assembly (GO:0033962)|multicellular organismal development (GO:0007275)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of translation (GO:0006417)|RIG-I signaling pathway (GO:0039529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|intracellular membrane-bounded organelle (GO:0043231)	double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TTACTGTTTGTGAGCCACCAA	0.443																																																	0								ENSG00000257103						218.0	186.0	197.0					19																	34685495		2203	4300	6503	LSM14A	SO:0001583	missense	0			-	HGNC	AL834398	CCDS12435.1, CCDS46040.1	19q13.12	2010-01-27	2006-12-21	2006-01-24		ENSG00000257103			24489	protein-coding gene	gene with protein product		610677	"""chromosome 19 open reading frame 13"", ""family with sequence similarity 61, member A"", ""LSM14 homolog A (SCD6, S. cerevisiae)"""	C19orf13, FAM61A		12477932	Standard	NM_015578		Approved	DKFZP434D1335, RAP55A, RAP55	uc002nva.4	Q8ND56		ENST00000433627.5:c.234T>G	19.37:g.34685495T>G	ENSP00000413964:p.Cys78Trp	Somatic	0	65	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	68	24.44	B4DTG6|Q76LX7|Q96AR3|Q96K73|Q96SN5|Q9UFR3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FDF_dom,superfamily_LSM_dom	p.C78W	ENST00000433627.5	37	c.234	CCDS46040.1	19	.	.	.	.	.	.	.	.	.	.	T	19.26	3.793490	0.70452	.	.	ENSG00000257103	ENST00000544216;ENST00000433627;ENST00000540746	T;T;T	0.32515	1.45;1.45;1.47	5.42	5.42	0.78866	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.55768	0.1941	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.998;0.997;0.995	T	0.57625	-0.7779	10	0.38643	T	0.18	-15.553	10.9091	0.47097	0.0:0.0734:0.0:0.9266	.	78;78;78	B4DTG6;Q8ND56;Q8ND56-2	.;LS14A_HUMAN;.	W	78	ENSP00000446271:C78W;ENSP00000413964:C78W;ENSP00000446451:C78W	ENSP00000314768:C78W	C	+	3	2	LSM14A	39377335	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.837000	0.48191	2.189000	0.69895	0.533000	0.62120	TGT	-	superfamily_LSM_dom		0.443	LSM14A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LSM14A	protein_coding	OTTHUMT00000451576.3	T	NM_015578	-		34685495	+1	no_errors	ENST00000433627	ensembl	human	known	74_37	missense	SNP	1.000	G
CCNYL2	414194	genome.wustl.edu	37	10	42924561	42924594	+	RNA	DEL	CACCTTTGCTTGATATGATAATATAGTGCCAAGG	CACCTTTGCTTGATATGATAATATAGTGCCAAGG	-	rs372503885|rs74262004|rs6143878	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	CACCTTTGCTTGATATGATAATATAGTGCCAAGG	CACCTTTGCTTGATATGATAATATAGTGCCAAGG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr10:42924561_42924594delCACCTTTGCTTGATATGATAATATAGTGCCAAGG	ENST00000483242.3	-	0	804_835					NR_103829.1		Q5T2Q4	CCYL2_HUMAN	cyclin Y-like 2						regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)			p.?(4)		breast(2)|endometrium(1)|lung(3)|ovary(1)	7						TAAAAAAGCTCACCTTTGCTTGATATGATAATATAGTGCCAAGGTCACACTGTG	0.355														1695	0.338458	0.289	0.2723	5008	,	,		18253	0.2411		0.3191	False		,,,				2504	0.5726																4	Unknown(4)	breast(4)						ENSG00000182632																																			CCNYL2			0				HGNC	BC039000		10q11.21	2007-02-09	2007-02-09	2007-02-09	ENSG00000182632	ENSG00000182632			23495	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 21"""	C10orf21			Standard	NR_103829		Approved	bA178A10.2		Q5T2Q4	OTTHUMG00000018009		10.37:g.42924561_42924594delCACCTTTGCTTGATATGATAATATAGTGCCAAGG		Somatic	NA	NA	NA		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		Splice_Site	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000483242.3	37	c.NULL		10																																																																																			-	-		0.355	CCNYL2-002	KNOWN	basic	processed_transcript	CCNYL2	pseudogene	OTTHUMT00000047670.5	CACCTTTGCTTGATATGATAATATAGTGCCAAGG	XM_936368			42924594	-1	no_errors	ENST00000483242	ensembl	human	known	74_37	splice_site_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.995:1.000:1.000:0.999:1.000:0.996:0.996:0.999	-
TTN	7273	genome.wustl.edu	37	2	179408710	179408710	+	Missense_Mutation	SNP	T	T	A			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr2:179408710T>A	ENST00000591111.1	-	296	91462	c.91238A>T	c.(91237-91239)gAc>gTc	p.D30413V	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D23181V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D32054V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D29486V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D23114V|TTN_ENST00000460472.2_Missense_Mutation_p.D22989V|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000591332.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	30413	Ig-like 137.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTGCAAGGTCAATGCCCTG	0.488																																																	0								ENSG00000155657						172.0	162.0	165.0					2																	179408710		1975	4166	6141	TTN	SO:0001583	missense	0			-	HGNC	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.91238A>T	2.37:g.179408710T>A	ENSP00000465570:p.Asp30413Val	Somatic	0	58	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	37	28	56.06	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.D29486V	ENST00000591111.1	37	c.88457		2	.	.	.	.	.	.	.	.	.	.	T	17.11	3.306667	0.60305	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.68559	0.3014	N	0.16656	0.425	0.80722	D	1	D;D;D;D	0.62365	0.991;0.991;0.991;0.983	P;P;P;P	0.62298	0.9;0.9;0.9;0.9	T	0.74312	-0.3706	9	0.87932	D	0	.	15.9962	0.80250	0.0:0.0:0.0:1.0	.	22989;23114;23181;30413	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	V	29486;22989;23181;23114;22986	ENSP00000343764:D29486V;ENSP00000434586:D22989V;ENSP00000340554:D23181V;ENSP00000352154:D23114V	ENSP00000340554:D23181V	D	-	2	0	TTN	179116956	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	8.040000	0.89188	2.180000	0.69256	0.459000	0.35465	GAC	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom		0.488	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	T	NM_133378	-		179408710	-1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	SNP	1.000	A
SARS	6301	genome.wustl.edu	37	1	109778719	109778719	+	Missense_Mutation	SNP	A	A	G			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:109778719A>G	ENST00000234677.2	+	8	1165	c.1090A>G	c.(1090-1092)Att>Gtt	p.I364V	SARS_ENST00000369923.4_Missense_Mutation_p.I364V	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	364					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CATTGTGAATATTGTCTCAGG	0.512																																																	0								ENSG00000031698						87.0	81.0	83.0					1																	109778719		2203	4300	6503	SARS	SO:0001583	missense	0			-	HGNC	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1090A>G	1.37:g.109778719A>G	ENSP00000234677:p.Ile364Val	Somatic	0	59	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	42	25.00	B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1	p.I364V	ENST00000234677.2	37	c.1090	CCDS795.1	1	.	.	.	.	.	.	.	.	.	.	a	25.4	4.635269	0.87760	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.67171	-0.25;-0.25	5.88	5.88	0.94601	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	T	0.75766	0.3894	M	0.62723	1.935	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.91635	0.998;0.998;0.999;0.998	T	0.78720	-0.2094	10	0.66056	D	0.02	-14.9948	15.9558	0.79886	1.0:0.0:0.0:0.0	.	364;364;364;364	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	V	364	ENSP00000234677:I364V;ENSP00000358939:I364V	ENSP00000234677:I364V	I	+	1	0	SARS	109580242	1.000000	0.71417	0.996000	0.52242	0.828000	0.46876	9.271000	0.95698	2.250000	0.74265	0.533000	0.62120	ATT	-	pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1		0.512	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	protein_coding	OTTHUMT00000032394.2	A	NM_006513	-		109778719	+1	no_errors	ENST00000369923	ensembl	human	known	74_37	missense	SNP	1.000	G
XYLB	9942	genome.wustl.edu	37	3	38411731	38411732	+	Intron	INS	-	-	CACACACACACA	rs196387|rs71085317|rs150130857	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr3:38411731_38411732insCACACACACACA	ENST00000207870.3	+	9	855				XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)						carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|D-xylose metabolic process (GO:0042732)|generation of precursor metabolites and energy (GO:0006091)|xylulose catabolic process (GO:0005998)|xylulose metabolic process (GO:0005997)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|xylulokinase activity (GO:0004856)			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GCACTGTAGCGcacacacacac	0.5														1186	0.236821	0.1006	0.3112	5008	,	,		17817	0.2143		0.3022	False		,,,				2504	0.3241																0								ENSG00000093217																																			XYLB	SO:0001627	intron_variant	0				HGNC	AB015046	CCDS2678.1	3p22-p21.3	2006-12-18	2001-12-04		ENSG00000093217	ENSG00000093217			12839	protein-coding gene	gene with protein product		604049	"""xylulokinase (H. influenzae) homolog"""			9763671	Standard	NM_005108		Approved	FLJ10343, FLJ12539	uc003cic.2	O75191	OTTHUMG00000131294	ENST00000207870.3:c.765+66->CACACACACACA	3.37:g.38411731_38411732insCACACACACACA		Somatic	NA	NA	NA		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B2RAW4|B4DDT2|B9EH64	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000207870.3	37	NULL	CCDS2678.1	3																																																																																			-	-		0.500	XYLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XYLB	protein_coding	OTTHUMT00000254062.2	-	NM_005108			38411732	+1	no_errors	ENST00000487569	ensembl	human	putative	74_37	rna	INS	0.000:0.000	CACACACACACA
KAZN	23254	genome.wustl.edu	37	1	15420846	15420846	+	Missense_Mutation	SNP	G	G	A	rs200509529		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:15420846G>A	ENST00000376030.2	+	9	1687	c.1393G>A	c.(1393-1395)Gtc>Atc	p.V465I		NM_201628.2	NP_963922.2	Q674X7	KAZRN_HUMAN	kazrin, periplakin interacting protein	465	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|desmosome (GO:0030057)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(1)|prostate(2)	25						GCCTATGTACGTCAAGGCCTG	0.627																																																	0								ENSG00000189337	G	ILE/VAL	0,4192		0,0,2096	35.0	42.0	39.0		1393	4.7	1.0	1		39	1,8421		0,1,4210	yes	missense	KAZN	NM_201628.2	29	0,1,6306	AA,AG,GG		0.0119,0.0,0.0079	benign	465/776	15420846	1,12613	2096	4211	6307	KAZN	SO:0001583	missense	0			-	HGNC	AY505119	CCDS30604.1, CCDS41267.1, CCDS152.2, CCDS41268.1	1p36.21	2014-02-12	2011-01-31		ENSG00000189337	ENSG00000189337		"""Sterile alpha motif (SAM) domain containing"""	29173	protein-coding gene	gene with protein product						15337775, 18840647	Standard	NM_015209		Approved	KIAA1026, KAZRIN, FLJ43806	uc001avm.4	Q674X7	OTTHUMG00000002042	ENST00000376030.2:c.1393G>A	1.37:g.15420846G>A	ENSP00000365198:p.Val465Ile	Somatic	0	61	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	101	22.31	B0QYQ0|B1AK78|Q5TGF1|Q674X4|Q674X6|Q6ZUD1|Q8IYN7|Q8N409|Q9UIL2|Q9UPX4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.V465I	ENST00000376030.2	37	c.1393	CCDS152.2	1	.	.	.	.	.	.	.	.	.	.	G	9.126	1.010105	0.19277	0.0	1.19E-4	ENSG00000189337	ENST00000376030	T	0.48522	0.81	4.68	4.68	0.58851	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.255793	0.26820	N	0.022330	T	0.29749	0.0743	N	0.17345	0.48	0.80722	D	1	B	0.13145	0.007	B	0.06405	0.002	T	0.09530	-1.0670	10	0.12766	T	0.61	-39.5872	13.4568	0.61204	0.0:0.0:1.0:0.0	.	465	Q674X7	KAZRN_HUMAN	I	465	ENSP00000365198:V465I	ENSP00000365198:V465I	V	+	1	0	KAZN	15293433	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.768000	0.68858	2.322000	0.78497	0.561000	0.74099	GTC	-	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.627	KAZN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAZN	protein_coding	OTTHUMT00000005690.2	G	NM_001017999	rs200509529		15420846	+1	no_errors	ENST00000376030	ensembl	human	known	74_37	missense	SNP	1.000	A
RABGGTB	5876	genome.wustl.edu	37	1	76259678	76259714	+	Intron	DEL	CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT	CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT	-	rs372421559|rs377221880|rs75986168|rs141490560|rs377745023	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT	CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr1:76259678_76259714delCCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT	ENST00000319942.3	+	8	776				RABGGTB_ENST00000535300.1_Intron|MSH4_ENST00000263187.3_5'Flank|RABGGTB_ENST00000496055.1_Intron	NM_004582.3	NP_004573.2	P53611	PGTB2_HUMAN	Rab geranylgeranyltransferase, beta subunit						cellular protein modification process (GO:0006464)|protein geranylgeranylation (GO:0018344)|visual perception (GO:0007601)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)	19						CATCAGATTACCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCTCAAAATTAGG	0.376														911	0.181909	0.1604	0.2781	5008	,	,		24903	0.0169		0.2843	False		,,,				2504	0.2076																0								ENSG00000137955																																			RABGGTB	SO:0001627	intron_variant	0				HGNC	U49245	CCDS669.1	1p31	2008-02-05			ENSG00000137955	ENSG00000137955			9796	protein-coding gene	gene with protein product		179080				8706741, 8954794	Standard	NM_004582		Approved		uc001dgy.2	P53611	OTTHUMG00000009786	ENST00000319942.3:c.706-55CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT>-	1.37:g.76259678_76259714delCCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT		Somatic	NA	NA	NA		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q92697	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000319942.3	37	NULL	CCDS669.1	1																																																																																			-	-		0.376	RABGGTB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGGTB	protein_coding	OTTHUMT00000026972.1	CCTAAGAGTGAGACTTAACCCACTTTTAAATTGTTCT	NM_004582			76259714	+1	no_errors	ENST00000459697	ensembl	human	known	74_37	rna	DEL	0.002:0.001:0.001:0.000:0.002:0.005:0.008:0.009:0.007:0.005:0.003:0.003:0.001:0.001:0.002:0.001:0.001:0.001:0.000:0.000:0.000:0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000	-
GAS2	2620	genome.wustl.edu	37	11	22770671	22770671	+	Missense_Mutation	SNP	G	G	T	rs371812344		TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr11:22770671G>T	ENST00000454584.2	+	6	784	c.479G>T	c.(478-480)gGt>gTt	p.G160V	GAS2_ENST00000433790.1_Missense_Mutation_p.G160V|GAS2_ENST00000278187.3_Missense_Mutation_p.G160V	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	160					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TAAAGGTATGGTGTGGAGCCT	0.378																																																	0								ENSG00000148935						75.0	79.0	78.0					11																	22770671		2203	4299	6502	GAS2	SO:0001583	missense	0			-	HGNC	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.479G>T	11.37:g.22770671G>T	ENSP00000401145:p.Gly160Val	Somatic	0	47	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	34	26.09	B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.G160V	ENST00000454584.2	37	c.479	CCDS7858.1	11	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205167	0.79127	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000278187;ENST00000532398;ENST00000433790	T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66	5.86	5.86	0.93980	Calponin homology domain (2);	0.097222	0.64402	D	0.000001	T	0.65004	0.2650	L	0.46157	1.445	0.80722	D	1	D	0.71674	0.998	D	0.71184	0.972	T	0.63804	-0.6554	10	0.72032	D	0.01	-12.962	20.5632	0.99335	0.0:0.0:1.0:0.0	.	160	O43903	GAS2_HUMAN	V	160	ENSP00000432584:G160V;ENSP00000401145:G160V;ENSP00000278187:G160V;ENSP00000435946:G160V;ENSP00000396708:G160V	ENSP00000278187:G160V	G	+	2	0	GAS2	22727247	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.074000	0.76791	2.937000	0.99478	0.650000	0.86243	GGT	-	superfamily_CH-domain		0.378	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2	protein_coding	OTTHUMT00000387717.1	G	NM_177553	-		22770671	+1	no_errors	ENST00000278187	ensembl	human	known	74_37	missense	SNP	1.000	T
CPA6	57094	genome.wustl.edu	37	8	68423882	68423882	+	Missense_Mutation	SNP	A	A	G	rs151119622	byFrequency	TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr8:68423882A>G	ENST00000297770.4	-	4	541	c.326T>C	c.(325-327)aTa>aCa	p.I109T	CPA6_ENST00000518549.1_Missense_Mutation_p.I109T|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	109						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.I109T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AAGATCTTCTATGAGGACCCT	0.378													A|||	3	0.000599042	0.0023	0.0	5008	,	,		18228	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	lung(1)						ENSG00000165078	A	THR/ILE	2,4404	4.2+/-10.8	0,2,2201	144.0	147.0	146.0		326	5.5	1.0	8	dbSNP_134	146	0,8600		0,0,4300	no	missense	CPA6	NM_020361.4	89	0,2,6501	GG,GA,AA		0.0,0.0454,0.0154	possibly-damaging	109/438	68423882	2,13004	2203	4300	6503	CPA6	SO:0001583	missense	0			GMAF=0.0005	HGNC	AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.326T>C	8.37:g.68423882A>G	ENSP00000297770:p.Ile109Thr	Somatic	0	21	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	11	57.69	Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.I109T	ENST00000297770.4	37	c.326	CCDS6200.1	8	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	19.31	3.802293	0.70682	4.54E-4	0.0	ENSG00000165078	ENST00000297770;ENST00000518549	T;T	0.22336	1.96;1.96	5.46	5.46	0.80206	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.000000	0.85682	D	0.000000	T	0.44030	0.1274	M	0.76170	2.325	0.80722	D	1	D;D	0.57899	0.981;0.963	P;P	0.60286	0.872;0.87	T	0.44329	-0.9335	10	0.72032	D	0.01	.	15.1902	0.73038	1.0:0.0:0.0:0.0	.	109;109	Q8N4T0-2;Q8N4T0	.;CBPA6_HUMAN	T	109	ENSP00000297770:I109T;ENSP00000431112:I109T	ENSP00000297770:I109T	I	-	2	0	CPA6	68586436	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	5.685000	0.68204	2.074000	0.62210	0.528000	0.53228	ATA	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept		0.378	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA6	protein_coding	OTTHUMT00000379296.2	A	NM_020361	rs151119622		68423882	-1	no_errors	ENST00000297770	ensembl	human	known	74_37	missense	SNP	1.000	G
CSMD3	114788	genome.wustl.edu	37	8	113668387	113668387	+	Silent	SNP	A	A	G			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr8:113668387A>G	ENST00000297405.5	-	18	3244	c.3000T>C	c.(2998-3000)taT>taC	p.Y1000Y	CSMD3_ENST00000343508.3_Silent_p.Y960Y|CSMD3_ENST00000455883.2_Silent_p.Y896Y|CSMD3_ENST00000352409.3_Silent_p.Y1000Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1000	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTTACTTTCATAATGAATCT	0.299										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0								ENSG00000164796						53.0	59.0	57.0					8																	113668387		2203	4300	6503	CSMD3	SO:0001819	synonymous_variant	0			-	HGNC	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3000T>C	8.37:g.113668387A>G		Somatic	0	30	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	13	45.83	Q96PZ3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.Y1000	ENST00000297405.5	37	c.3000	CCDS6315.1	8																																																																																			-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.299	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	protein_coding	OTTHUMT00000347141.1	A	NM_052900	-		113668387	-1	no_errors	ENST00000297405	ensembl	human	known	74_37	silent	SNP	1.000	G
UBE2Q2L	100505679	genome.wustl.edu	37	15	84850838	84850838	+	Silent	SNP	G	G	A			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr15:84850838G>A	ENST00000558195.1	+	3	351	c.339G>A	c.(337-339)gtG>gtA	p.V113V		NM_001243531.1	NP_001230460.1																					ACAGTTCGGTGAGGAAAGAAA	0.338																																																	0								ENSG00000259511																																			RP11-182J1.16	SO:0001819	synonymous_variant	0			-	Clone_based_vega_gene																												ENST00000558195.1:c.339G>A	15.37:g.84850838G>A		Somatic	0	36	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	12	20.00		Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.V113	ENST00000558195.1	37	c.339	CCDS58396.1	15																																																																																			-	NULL		0.338	RP11-182J1.16-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	LOC100505679	protein_coding	OTTHUMT00000418800.1	G		-		84850838	+1	no_errors	ENST00000558195	ensembl	human	putative	74_37	silent	SNP	0.990	A
CAPS2	84698	genome.wustl.edu	37	12	75687052	75687052	+	Missense_Mutation	SNP	A	A	T			TCGA-HB-A3YV-01A-11D-A24N-09	TCGA-HB-A3YV-10A-01D-A24N-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0539c9cf-9cba-4257-b3e7-365a4b71c8fd	ea3ed74e-abbc-4b2b-915f-e90ad2399915	g.chr12:75687052A>T	ENST00000409445.3	-	13	1393	c.1197T>A	c.(1195-1197)gaT>gaA	p.D399E	CAPS2_ENST00000393284.3_Missense_Mutation_p.D167E|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000409799.1_Missense_Mutation_p.D317E|RP11-560G2.1_ENST00000549953.1_RNA|CAPS2_ENST00000442339.2_5'UTR|RP11-560G2.1_ENST00000534648.2_RNA	NM_032606.3	NP_115995.2	Q9BXY5	CAYP2_HUMAN	calcyphosine 2	399							calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						AAGCTATTTGATCAATATTTG	0.313																																																	0								ENSG00000180881						118.0	108.0	112.0					12																	75687052		2203	4300	6503	CAPS2	SO:0001583	missense	0			-	HGNC	AF251056	CCDS9008.2, CCDS66424.1, CCDS73497.1	12q14.1	2013-01-10	2005-05-09		ENSG00000180881	ENSG00000180881		"""EF-hand domain containing"""	16471	protein-coding gene	gene with protein product		607724	"""calcyphosphine 2"""			11846421	Standard	NM_032606		Approved		uc001sxk.4	Q9BXY5	OTTHUMG00000152787	ENST00000409445.3:c.1197T>A	12.37:g.75687052A>T	ENSP00000386959:p.Asp399Glu	Somatic	0	51	0.00		0.6513542349807201	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	41	26.32	Q6PH84|Q8N242|Q8NAY5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_EF_hand_dom,pfscan_EF_hand_dom	p.D399E	ENST00000409445.3	37	c.1197	CCDS9008.2	12	.	.	.	.	.	.	.	.	.	.	A	12.68	2.009117	0.35415	.	.	ENSG00000180881	ENST00000409799;ENST00000409445;ENST00000378703;ENST00000393284	T;T;T	0.38077	1.51;1.16;1.26	4.6	2.22	0.28083	.	0.000000	0.64402	D	0.000001	T	0.54111	0.1838	M	0.70903	2.155	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.997;0.993	D;D;P;P	0.85130	0.935;0.997;0.904;0.869	T	0.51849	-0.8653	10	0.72032	D	0.01	-13.0959	8.7201	0.34436	0.8417:0.0:0.1583:0.0	.	167;135;399;317	Q9BXY5-2;Q9BXY5-3;Q9BXY5;B9A061	.;.;CAYP2_HUMAN;.	E	317;399;135;167	ENSP00000386977:D317E;ENSP00000386959:D399E;ENSP00000376963:D167E	ENSP00000367975:D135E	D	-	3	2	CAPS2	73973319	1.000000	0.71417	0.978000	0.43139	0.029000	0.11900	3.157000	0.50716	0.249000	0.21456	0.366000	0.22137	GAT	-	NULL		0.313	CAPS2-001	KNOWN	basic|CCDS	protein_coding	CAPS2	protein_coding	OTTHUMT00000327880.2	A		-		75687052	-1	no_errors	ENST00000409445	ensembl	human	known	74_37	missense	SNP	0.998	T
