#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABCC8	6833	genome.wustl.edu	37	11	17416732	17416732	+	Silent	SNP	C	C	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr11:17416732C>A	ENST00000389817.3	-	36	4466	c.4398G>T	c.(4396-4398)ctG>ctT	p.L1466L	ABCC8_ENST00000302539.4_Silent_p.L1467L			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1466	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GGCCTCCTGGCAGTGCCTTCA	0.572																																																	0													44.0	36.0	38.0					11																	17416732		2200	4292	6492	SO:0001819	synonymous_variant	0			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.4398G>T	11.37:g.17416732C>A			A6NMX8|E3UYX6|O75948|Q16583	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.L1467	ENST00000389817.3	37	c.4401	CCDS31437.1	11																																																																																			ABCC8	-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000006071		0.572	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	-	0.00	19	0	C	NM_000352		17416732	-1	tier1	-	no_errors	ENST00000302539	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.994	A
ADAM23	8745	genome.wustl.edu	37	2	207452839	207452839	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr2:207452839A>G	ENST00000264377.3	+	20	2141	c.1813A>G	c.(1813-1815)Aag>Gag	p.K605E	ADAM23_ENST00000374415.3_Missense_Mutation_p.K605E|ADAM23_ENST00000374416.1_Missense_Mutation_p.K605E	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	605	Cys-rich.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TGGCGAGTGCAAGACCAGAGA	0.488																																					Melanoma(194;1127 2130 19620 24042 27855)												0													157.0	128.0	138.0					2																	207452839		2203	4300	6503	SO:0001583	missense	0			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1813A>G	2.37:g.207452839A>G	ENSP00000264377:p.Lys605Glu		A2RU59	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.K605E	ENST00000264377.3	37	c.1813	CCDS2369.1	2	.	.	.	.	.	.	.	.	.	.	A	33	5.229102	0.95173	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.22134	1.97;1.97;1.97	5.73	5.73	0.89815	ADAM, cysteine-rich (2);	0.090877	0.47455	D	0.000223	T	0.54447	0.1859	M	0.89904	3.07	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.62369	-0.6869	10	0.49607	T	0.09	.	16.0153	0.80434	1.0:0.0:0.0:0.0	.	605	O75077	ADA23_HUMAN	E	605;605;499;605	ENSP00000264377:K605E;ENSP00000363537:K605E;ENSP00000363536:K605E	ENSP00000264377:K605E	K	+	1	0	ADAM23	207161084	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.310000	0.96267	2.180000	0.69256	0.533000	0.62120	AAG	ADAM23	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000114948		0.488	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAM23	HGNC	protein_coding	OTTHUMT00000256431.2	-	0.00	67	0	A	NM_003812		207452839	+1	tier1	-	no_errors	ENST00000264377	ensembl	human	known	74_37	missense	30.65	43	19	SNP	1.000	G
ADAM28	10863	genome.wustl.edu	37	8	24193159	24193159	+	Intron	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr8:24193159G>A	ENST00000265769.4	+	14	1677				ADAM28_ENST00000437154.2_Silent_p.R524R|ADAM28_ENST00000397649.3_Intron|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000540823.1_Silent_p.R291R|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28						spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GACCAGGTAGGAGGACAAATC	0.512																																					NSCLC(193;488 2149 22258 34798 40734)												0													76.0	71.0	72.0					8																	24193159		2203	4300	6503	SO:0001627	intron_variant	0			AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1567+5G>A	8.37:g.24193159G>A			B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.R524	ENST00000265769.4	37	c.1572	CCDS34865.1	8																																																																																			ADAM28	-	pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich	ENSG00000042980		0.512	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM28	HGNC	protein_coding	OTTHUMT00000375441.2	-	0.00	85	0	G	NM_021778		24193159	+1	tier1	-	no_errors	ENST00000437154	ensembl	human	known	74_37	silent	65.22	32	60	SNP	0.998	A
ADAMTS14	140766	genome.wustl.edu	37	10	72498630	72498630	+	Silent	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr10:72498630G>A	ENST00000373207.1	+	11	1632	c.1632G>A	c.(1630-1632)tcG>tcA	p.S544S	ADAMTS14_ENST00000373208.1_Silent_p.S547S	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	544	Disintegrin.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TCTGGAAGTCGCCGGAGCAGA	0.642																																																	0													68.0	64.0	65.0					10																	72498630		2203	4300	6503	SO:0001819	synonymous_variant	0			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1632G>A	10.37:g.72498630G>A			Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S547	ENST00000373207.1	37	c.1641	CCDS7306.1	10																																																																																			ADAMTS14	-	NULL	ENSG00000138316		0.642	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	-	0.00	141	0	G	NM_080722		72498630	+1	tier1	-	no_errors	ENST00000373208	ensembl	human	known	74_37	silent	20.00	60	15	SNP	0.000	A
ARFIP1	27236	genome.wustl.edu	37	4	153833145	153833145	+	3'UTR	DEL	A	A	-			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr4:153833145delA	ENST00000451320.2	+	0	3060							P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1						intracellular protein transport (GO:0006886)|regulation of protein secretion (GO:0050708)	cytosol (GO:0005829)|Golgi membrane (GO:0000139)			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					TCTGAACCTTAAAAAAAAAGG	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	0			U52521	CCDS3780.1, CCDS34080.1	4q31.3	2008-08-01	2008-08-01			ENSG00000164144			21496	protein-coding gene	gene with protein product	"""arfaptin 1"""	605928				9038142, 10413101	Standard	NM_001025595		Approved	HSU52521	uc003imz.3	P53367		ENST00000451320.2:c.*1774A>-	4.37:g.153833145delA			Q2M2X4|Q3SYL4|Q9Y2X6	RNA	DEL	-	NULL	ENST00000451320.2	37	NULL	CCDS34080.1	4																																																																																			ARFIP1	-	-	ENSG00000164144		0.323	ARFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFIP1	HGNC	protein_coding	OTTHUMT00000365032.1		0.00	34	0	A	NM_014447		153833145	+1	tier1		no_errors	ENST00000510497	ensembl	human	known	74_37	rna	12.50	21	3	DEL	0.000	-
ARHGEF5	7984	genome.wustl.edu	37	7	144062632	144062632	+	Nonsense_Mutation	SNP	C	C	G	rs202036368		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr7:144062632C>G	ENST00000056217.5	+	2	3044	c.2870C>G	c.(2869-2871)tCa>tGa	p.S957*	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	957					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCAGGGGTCTCAGAACACCCT	0.597																																																	0													2.0	2.0	2.0					7																	144062632		723	1763	2486	SO:0001587	stop_gained	0			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.2870C>G	7.37:g.144062632C>G	ENSP00000056217:p.Ser957*		A6NNJ2|Q6ZML7	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.S957*	ENST00000056217.5	37	c.2870	CCDS34771.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.577225|6.577225	0.97676|0.97676	.|.	.|.	ENSG00000050327|ENSG00000050327	ENST00000474817|ENST00000056217	.|.	.|.	.|.	4.06|4.06	2.22|2.22	0.28083|0.28083	.|.	.|0.258318	.|0.20430	.|N	.|0.092497	T|.	0.37237|.	0.0996|.	.|.	.|.	.|.	0.21020|0.21020	N|N	0.99981|0.99981	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.20940|.	-1.0260|.	4|.	.|0.48119	.|T	.|0.1	-0.0888|-0.0888	6.3968|6.3968	0.21616|0.21616	0.0:0.7685:0.0:0.2315|0.0:0.7685:0.0:0.2315	.|.	.|.	.|.	.|.	E|X	211|957	.|.	.|ENSP00000056217:S957X	Q|S	+|+	1|2	0|0	ARHGEF5|ARHGEF5	143693565|143693565	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.014000|0.014000	0.08584|0.08584	0.795000|0.795000	0.26972|0.26972	0.369000|0.369000	0.24510|0.24510	0.555000|0.555000	0.69702|0.69702	CAG|TCA	ARHGEF5	-	NULL	ENSG00000050327		0.597	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF5	HGNC	protein_coding	OTTHUMT00000349981.1	-	0.00	17	0	C	NM_005435		144062632	+1	tier1	rs202036368	no_errors	ENST00000056217	ensembl	human	known	74_37	nonsense	23.53	13	4	SNP	0.005	G
ASB10	136371	genome.wustl.edu	37	7	150884267	150884268	+	5'Flank	DEL	AG	AG	-	rs372716545		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr7:150884267_150884268delAG	ENST00000420175.2	-	0	0				ASB10_ENST00000434669.1_Frame_Shift_Del_p.L29fs|ASB10_ENST00000377867.3_Intron|ASB10_ENST00000275838.1_5'UTR|ASB10_ENST00000422024.1_Frame_Shift_Del_p.L29fs			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCCAAAGGCagagagagagag	0.594																																																	0																																										SO:0001631	upstream_gene_variant	0			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013		7.37:g.150884277_150884278delAG	Exception_encountered		A0AVH0|Q6ZUL6	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.L29fs	ENST00000420175.2	37	c.86_85	CCDS47750.2	7																																																																																			ASB10	-	NULL	ENSG00000146926		0.594	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	HGNC	protein_coding	OTTHUMT00000347096.3		0.00	31	0	AG	NM_080871		150884268	-1	tier1		no_errors	ENST00000422024	ensembl	human	known	74_37	frame_shift_del	10.34	26	3	DEL	0.003:0.000	-
AWAT1	158833	genome.wustl.edu	37	X	69454560	69454560	+	Silent	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chrX:69454560G>A	ENST00000374521.3	+	1	56	c.15G>A	c.(13-15)aaG>aaA	p.K5K	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	5					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CTCATTCCAAGCAGCCTAGTC	0.507																																																	0													126.0	96.0	106.0					X																	69454560		2203	4300	6503	SO:0001819	synonymous_variant	0			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.15G>A	X.37:g.69454560G>A			Q5JT21|Q6IEE4	Silent	SNP	pfam_DAGAT	p.K5	ENST00000374521.3	37	c.15	CCDS35321.1	X																																																																																			AWAT1	-	NULL	ENSG00000204195		0.507	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	-	0.00	69	0	G	NM_001013579		69454560	+1	tier1	-	no_errors	ENST00000374521	ensembl	human	known	74_37	silent	10.17	53	6	SNP	0.048	A
BCR	613	genome.wustl.edu	37	22	23658024	23658025	+	3'UTR	INS	-	-	TA	rs374974844		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr22:23658024_23658025insTA	ENST00000305877.8	+	0	4882_4883				BCR_ENST00000359540.3_3'UTR|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region						actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	TGAACTTAACTTAGAGTCTAAA	0.5			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""																																			Dom	yes		22	22q11.21	613	breakpoint cluster region		L	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.*316->TA	22.37:g.23658025_23658026dupTA			P78501|Q12842|Q4LE80|Q6NZI3	RNA	INS	-	NULL	ENST00000305877.8	37	NULL	CCDS13806.1	22																																																																																			BCR	-	-	ENSG00000186716		0.500	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1		0.00	34	0	-	NM_004327		23658025	+1	tier1		no_errors	ENST00000436990	ensembl	human	known	74_37	rna	10.00	18	2	INS	0.997:0.998	TA
BEAN1	146227	genome.wustl.edu	37	16	66511471	66511471	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr16:66511471G>A	ENST00000536005.2	+	4	515	c.298G>A	c.(298-300)Gag>Aag	p.E100K	CTD-2258A20.5_ENST00000564618.1_RNA|CTD-2258A20.5_ENST00000569125.1_RNA|BEAN1_ENST00000299694.8_5'UTR|CTD-2258A20.5_ENST00000567528.1_RNA|RP11-403P17.5_ENST00000561728.1_Intron|BEAN1_ENST00000561796.1_5'UTR|BEAN1_ENST00000563075.1_Intron|BEAN1_ENST00000564819.1_5'UTR	NM_001178020.2	NP_001171491.1	Q3B7T3	BEAN1_HUMAN	brain expressed, associated with NEDD4, 1	100	Arg-rich.|His-rich.				cell death (GO:0008219)	integral component of membrane (GO:0016021)				kidney(1)	1						AGTGTCGGACGAGCACACATA	0.632																																																	0													34.0	38.0	37.0					16																	66511471		692	1591	2283	SO:0001583	missense	0			BC000818	CCDS54015.1, CCDS58469.1, CCDS58470.1	16q21	2014-07-30			ENSG00000166546	ENSG00000166546			24160	protein-coding gene	gene with protein product		612051	"""spinocerebellar ataxia 31"""	SCA31		11042109, 8619474, 23607545	Standard	NM_001178020		Approved		uc021tjl.1	Q3B7T3	OTTHUMG00000173370	ENST00000536005.2:c.298G>A	16.37:g.66511471G>A	ENSP00000442793:p.Glu100Lys		B3KPC0|H3BP97	Missense_Mutation	SNP	NULL	p.E100K	ENST00000536005.2	37	c.298	CCDS54015.1	16	.	.	.	.	.	.	.	.	.	.	G	14.28	2.488051	0.44249	.	.	ENSG00000166546	ENST00000536005;ENST00000299694	.	.	.	4.56	2.57	0.30868	.	0.229546	0.35291	N	0.003313	T	0.20007	0.0481	N	0.08118	0	0.23174	N	0.998176	.	.	.	.	.	.	T	0.13229	-1.0517	7	0.62326	D	0.03	-8.5431	7.4564	0.27270	0.1999:0.0:0.8001:0.0	.	.	.	.	K	100;91	.	ENSP00000299694:E91K	E	+	1	0	BEAN1	65068972	0.104000	0.21937	0.005000	0.12908	0.085000	0.17905	1.514000	0.35834	0.641000	0.30601	0.561000	0.74099	GAG	BEAN1	-	NULL	ENSG00000166546		0.632	BEAN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BEAN1	HGNC	protein_coding	OTTHUMT00000422908.1	-	0.00	19	0	G	NM_001136106		66511471	+1	tier1	-	no_errors	ENST00000536005	ensembl	human	known	74_37	missense	28.57	20	8	SNP	0.019	A
BNC1	646	genome.wustl.edu	37	15	83932769	83932769	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr15:83932769G>A	ENST00000345382.2	-	4	1319	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	BNC1_ENST00000569704.1_Missense_Mutation_p.R405W|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	412					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						ATGTGCAGCCGAGGGTTGGGG	0.532																																																	0													168.0	160.0	163.0					15																	83932769		2203	4300	6503	SO:0001583	missense	0			L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.1234C>T	15.37:g.83932769G>A	ENSP00000307041:p.Arg412Trp		Q15840	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R412W	ENST00000345382.2	37	c.1234	CCDS10324.1	15	.	.	.	.	.	.	.	.	.	.	G	18.71	3.683003	0.68157	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	T	0.58060	0.36	5.51	5.51	0.81932	Zinc finger, C2H2-like (1);	0.116831	0.56097	D	0.000035	T	0.71813	0.3384	M	0.78801	2.425	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75059	-0.3451	10	0.87932	D	0	-29.6124	12.527	0.56091	0.0:0.0:0.7201:0.2799	.	405;412	F5GY04;Q01954	.;BNC1_HUMAN	W	412;405	ENSP00000307041:R412W	ENSP00000307041:R412W	R	-	1	2	BNC1	81723773	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.945000	0.63568	2.589000	0.87451	0.655000	0.94253	CGG	BNC1	-	smart_Znf_C2H2-like	ENSG00000169594		0.532	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1	-	0.00	37	0	G	NM_001717		83932769	-1	tier1	-	no_errors	ENST00000345382	ensembl	human	known	74_37	missense	34.38	21	11	SNP	0.997	A
BTBD11	121551	genome.wustl.edu	37	12	108013823	108013823	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:108013823G>A	ENST00000280758.5	+	11	3041	c.2513G>A	c.(2512-2514)cGc>cAc	p.R838H	RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Missense_Mutation_p.R375H|BTBD11_ENST00000420571.2_Missense_Mutation_p.R719H|BTBD11_ENST00000490090.2_Missense_Mutation_p.R838H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	838						integral component of membrane (GO:0016021)		p.R838H(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAGCAGCACCGCAGGCCTCTC	0.602																																																	1	Substitution - Missense(1)	large_intestine(1)											54.0	52.0	53.0					12																	108013823		2203	4300	6503	SO:0001583	missense	0			AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2513G>A	12.37:g.108013823G>A	ENSP00000280758:p.Arg838His		A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.R838H	ENST00000280758.5	37	c.2513	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	G	27.6	4.846832	0.91277	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000357167	T;T;T;T	0.50001	1.02;0.76;1.05;0.84	5.04	5.04	0.67666	.	0.103648	0.64402	D	0.000002	T	0.65883	0.2734	L	0.60455	1.87	0.80722	D	1	D;P;D;P	0.76494	0.999;0.796;0.998;0.954	D;B;P;P	0.80764	0.994;0.165;0.7;0.481	T	0.65043	-0.6264	10	0.41790	T	0.15	.	18.4012	0.90516	0.0:0.0:1.0:0.0	.	719;375;838;838	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	H	838;719;838;375	ENSP00000280758:R838H;ENSP00000413889:R719H;ENSP00000447319:R838H;ENSP00000349690:R375H	ENSP00000280758:R838H	R	+	2	0	BTBD11	106537953	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.819000	0.99357	2.326000	0.78906	0.650000	0.86243	CGC	BTBD11	-	NULL	ENSG00000151136		0.602	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1		0.00	75	0	G	NM_152322		108013823	+1			no_errors	ENST00000280758	ensembl	human	known	74_37	missense	10.00	36	4	SNP	1.000	A
PROSER3	148137	genome.wustl.edu	37	19	36258937	36258937	+	Missense_Mutation	SNP	A	A	C	rs398034467|rs5827939		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr19:36258937A>C	ENST00000544099.1	+	9	1253	c.1190A>C	c.(1189-1191)cAg>cCg	p.Q397P	AC002398.13_ENST00000589397.1_RNA|C19orf55_ENST00000396908.4_Splice_Site_p.Q397P			Q2NL68	PRSR3_HUMAN		326										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGCTTGCCCAGGGCCGCCCT	0.736																																																	0													7.0	8.0	8.0					19																	36258937		1853	3997	5850	SO:0001583	missense	0																														ENST00000544099.1:c.1190A>C	19.37:g.36258937A>C	ENSP00000467267:p.Gln397Pro		Q8NDI3|Q8WWC8|Q96NL4	Missense_Mutation	SNP	NULL	p.Q397P	ENST00000544099.1	37	c.1190		19	.	.	.	.	.	.	.	.	.	.	A	15.91	2.973523	0.53720	.	.	ENSG00000167595	ENST00000396908	T	0.40756	1.02	4.37	3.35	0.38373	.	.	.	.	.	T	0.42381	0.1200	L	0.59436	1.845	0.20764	N	0.999857	P	0.43231	0.801	P	0.45428	0.48	T	0.20371	-1.0277	9	0.38643	T	0.18	-0.9655	7.3595	0.26737	0.8061:0.0:0.0:0.1939	.	397	E5RFB9	.	P	397	ENSP00000380116:Q397P	ENSP00000380116:Q397P	Q	+	2	0	C19orf55	40950777	0.855000	0.29742	0.777000	0.31699	0.011000	0.07611	1.166000	0.31834	0.988000	0.38734	0.460000	0.39030	CAG	C19orf55	-	NULL	ENSG00000167595		0.736	C19orf55-001	KNOWN	basic	protein_coding	C19orf55	HGNC	protein_coding	OTTHUMT00000398160.2		0.00	16	0	A			36258937	+1			no_errors	ENST00000396908	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.791	C
CACNA1C	775	genome.wustl.edu	37	12	2800324	2800324	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:2800324G>A	ENST00000347598.4	+	49	6520	c.6520G>A	c.(6520-6522)Gag>Aag	p.E2174K	CACNA1C_ENST00000399606.1_Missense_Mutation_p.E2146K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.E2126K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.E2151K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.E2197K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.E2126K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399591.1_Missense_Mutation_p.E2134K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.E2161K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.E2197K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.E2145K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.E2161K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.E2126K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.E2167K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.E2126K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.E2145K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.E2132K|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399629.1_Missense_Mutation_p.E2143K|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399655.1_Missense_Mutation_p.E2126K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.E2145K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.E2134K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.E2126K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.E2154K	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2209					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ACCGAGTGAGGAGGAGCTCCA	0.617																																																	0													24.0	31.0	29.0					12																	2800324		1958	4129	6087	SO:0001583	missense	0			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6520G>A	12.37:g.2800324G>A	ENSP00000266376:p.Glu2174Lys		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E2197K	ENST00000347598.4	37	c.6589	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347847	0.61183	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	4.49	4.49	0.54785	.	1.750340	0.02415	N	0.082070	T	0.66416	0.2787	M	0.61703	1.905	0.34933	D	0.749575	B;P;B;P;P;P;P;P;P;P;P;B;B;P;B;B;B;P;P;B;P;P;P;B;B	0.49862	0.419;0.73;0.073;0.474;0.604;0.554;0.675;0.73;0.73;0.929;0.726;0.073;0.021;0.604;0.043;0.258;0.021;0.469;0.554;0.332;0.675;0.73;0.726;0.073;0.073	P;B;B;B;B;B;B;B;B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.47786	0.533;0.234;0.059;0.199;0.157;0.107;0.164;0.157;0.234;0.557;0.214;0.059;0.049;0.234;0.027;0.046;0.049;0.221;0.107;0.158;0.164;0.108;0.214;0.059;0.059	T	0.64093	-0.6488	10	0.87932	D	0	.	17.7187	0.88344	0.0:0.0:1.0:0.0	.	817;2167;2123;2209;2161;2145;2126;2143;2154;2126;2146;2126;2157;2174;2126;2161;2197;2134;2132;2134;2115;2145;2145;2126;2126	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	2151;2126;2126;2154;2126;2145;2145;2134;2126;2174;2146;2126;2167;2143;2161;2132;2145;2126;2197;2161;2197;2134;2027	ENSP00000336982:E2151K;ENSP00000382563:E2126K;ENSP00000382552:E2126K;ENSP00000382547:E2154K;ENSP00000382506:E2126K;ENSP00000382530:E2145K;ENSP00000382546:E2145K;ENSP00000382500:E2134K;ENSP00000382549:E2126K;ENSP00000266376:E2174K;ENSP00000382515:E2146K;ENSP00000382510:E2126K;ENSP00000341092:E2167K;ENSP00000382537:E2143K;ENSP00000329877:E2161K;ENSP00000382557:E2132K;ENSP00000385724:E2145K;ENSP00000382512:E2126K;ENSP00000382542:E2197K;ENSP00000382526:E2161K;ENSP00000385896:E2197K;ENSP00000382504:E2134K	ENSP00000323129:E2027K	E	+	1	0	CACNA1C	2670585	1.000000	0.71417	0.939000	0.37840	0.678000	0.39670	5.066000	0.64351	2.498000	0.84270	0.591000	0.81541	GAG	CACNA1C	-	NULL	ENSG00000151067		0.617	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	-	0.00	48	0	G	NM_000719		2800324	+1	tier1	-	no_errors	ENST00000399634	ensembl	human	known	74_37	missense	25.93	60	21	SNP	1.000	A
CDH10	1008	genome.wustl.edu	37	5	24593471	24593471	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:24593471C>A	ENST00000264463.4	-	2	636	c.129G>T	c.(127-129)agG>agT	p.R43S	RP11-116O11.1_ENST00000510391.1_RNA	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	43					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGCCATCACTCCTTGGTACAC	0.408										HNSCC(23;0.051)																																							0													133.0	127.0	129.0					5																	24593471		2203	4299	6502	SO:0001583	missense	0			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.129G>T	5.37:g.24593471C>A	ENSP00000264463:p.Arg43Ser		Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R43S	ENST00000264463.4	37	c.129	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	4.760	0.141262	0.09083	.	.	ENSG00000040731	ENST00000264463	T	0.54279	0.58	4.37	-2.04	0.07343	.	0.623262	0.17011	N	0.190509	T	0.26376	0.0644	N	0.16790	0.44	0.23138	N	0.998234	B	0.02656	0.0	B	0.06405	0.002	T	0.20806	-1.0264	10	0.11794	T	0.64	.	6.1986	0.20563	0.1174:0.4586:0.0:0.424	.	43	Q9Y6N8	CAD10_HUMAN	S	43	ENSP00000264463:R43S	ENSP00000264463:R43S	R	-	3	2	CDH10	24629228	0.017000	0.18338	0.265000	0.24526	0.561000	0.35649	-0.969000	0.03813	-0.426000	0.07360	0.585000	0.79938	AGG	CDH10	-	NULL	ENSG00000040731		0.408	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	-	0.00	48	0	C	NM_006727		24593471	-1	tier1	-	no_errors	ENST00000264463	ensembl	human	known	74_37	missense	24.19	47	15	SNP	0.856	A
CDH9	1007	genome.wustl.edu	37	5	26881567	26881567	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:26881567C>G	ENST00000231021.4	-	12	2220	c.2048G>C	c.(2047-2049)aGa>aCa	p.R683T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	683					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACTGTCTTCTCTTGCCTCTGG	0.438																																					Melanoma(8;187 585 15745 40864 52829)												0													194.0	188.0	190.0					5																	26881567		2203	4300	6503	SO:0001583	missense	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2048G>C	5.37:g.26881567C>G	ENSP00000231021:p.Arg683Thr		Q3B7I5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R683T	ENST00000231021.4	37	c.2048	CCDS3893.1	5	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393529	0.25205	.	.	ENSG00000113100	ENST00000231021	T	0.75821	-0.97	4.96	4.96	0.65561	Cadherin, cytoplasmic domain (1);	0.103362	0.64402	D	0.000002	T	0.66208	0.2766	N	0.19112	0.55	0.44117	D	0.99689	B;B	0.29571	0.002;0.249	B;B	0.38755	0.01;0.281	T	0.61903	-0.6967	9	.	.	.	.	17.1426	0.86758	0.0:1.0:0.0:0.0	.	276;683	B4DFP0;Q9ULB4	.;CADH9_HUMAN	T	683	ENSP00000231021:R683T	.	R	-	2	0	CDH9	26917324	0.835000	0.29415	0.995000	0.50966	0.956000	0.61745	2.595000	0.46197	2.447000	0.82792	0.557000	0.71058	AGA	CDH9	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000113100		0.438	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	-	0.00	62	0	C	NM_016279		26881567	-1	tier1	-	no_errors	ENST00000231021	ensembl	human	known	74_37	missense	24.32	56	18	SNP	1.000	G
CENPT	80152	genome.wustl.edu	37	16	67866357	67866357	+	Splice_Site	SNP	C	C	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr16:67866357C>A	ENST00000562787.1	-	5	750		c.e5+1		CENPT_ENST00000562947.1_5'Flank|CENPT_ENST00000445712.2_Splice_Site|CENPT_ENST00000440851.2_Splice_Site|CENPT_ENST00000219172.3_Splice_Site|CENPT_ENST00000564817.1_Splice_Site	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T						chromosome organization (GO:0051276)|chromosome segregation (GO:0007059)|kinetochore assembly (GO:0051382)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		TGGGTACTTACCCTGGCTCCA	0.607																																																	0													67.0	72.0	70.0					16																	67866357		1946	4132	6078	SO:0001630	splice_region_variant	0			AK056097	CCDS42182.1	16q22.1	2013-11-05	2006-06-15	2006-06-15		ENSG00000102901			25787	protein-coding gene	gene with protein product		611510	"""chromosome 16 open reading frame 56"""	C16orf56		16622420, 16622419	Standard	NM_025082		Approved	FLJ13111, CENP-T	uc002eun.4	Q96BT3		ENST00000562787.1:c.201+1G>T	16.37:g.67866357C>A			Q96I29|Q96IC6|Q96NK9|Q9H901	Splice_Site	SNP	-	e2+1	ENST00000562787.1	37	c.201+1	CCDS42182.1	16	.	.	.	.	.	.	.	.	.	.	C	15.20	2.764053	0.49574	.	.	ENSG00000102901	ENST00000440851;ENST00000219172	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0244	0.71656	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CENPT	66423858	0.987000	0.35691	0.969000	0.41365	0.025000	0.11179	3.290000	0.51755	2.824000	0.97209	0.655000	0.94253	.	CENPT	-	-	ENSG00000102901		0.607	CENPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPT	HGNC	protein_coding	OTTHUMT00000422020.1	-	0.00	77	0	C	NM_025082	Intron	67866357	-1	tier1	-	no_errors	ENST00000219172	ensembl	human	known	74_37	splice_site	29.03	44	18	SNP	0.987	A
CMYA5	202333	genome.wustl.edu	37	5	79024876	79024876	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:79024876G>T	ENST00000446378.2	+	2	319	c.288G>T	c.(286-288)tgG>tgT	p.W96C		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	96					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)		CTACTCCTTGGGCTTCAGAAG	0.433																																																	0													251.0	245.0	247.0					5																	79024876		1869	4108	5977	SO:0001583	missense	0			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.288G>T	5.37:g.79024876G>T	ENSP00000394770:p.Trp96Cys		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	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.W96C	ENST00000446378.2	37	c.288	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954990	0.73902	.	.	ENSG00000164309	ENST00000446378	T	0.79141	-1.24	5.41	5.41	0.78517	.	0.147317	0.32301	N	0.006291	D	0.84197	0.5419	L	0.36672	1.1	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	D	0.85787	0.1365	10	0.87932	D	0	.	19.2111	0.93755	0.0:0.0:1.0:0.0	.	96	Q8N3K9	CMYA5_HUMAN	C	96	ENSP00000394770:W96C	ENSP00000394770:W96C	W	+	3	0	CMYA5	79060632	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.864000	0.92294	2.532000	0.85374	0.655000	0.94253	TGG	CMYA5	-	NULL	ENSG00000164309		0.433	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1		0.00	60	0	G	NM_153610		79024876	+1			no_errors	ENST00000446378	ensembl	human	known	74_37	missense	5.77	49	3	SNP	1.000	T
COCH	1690	genome.wustl.edu	37	14	31354680	31354680	+	Missense_Mutation	SNP	G	G	T	rs186875564	byFrequency	TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr14:31354680G>T	ENST00000396618.3	+	10	870	c.814G>T	c.(814-816)Gta>Tta	p.V272L	COCH_ENST00000382493.4_Missense_Mutation_p.V123L|COCH_ENST00000475087.1_Missense_Mutation_p.V272L|RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.V272L|RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000460581.2_Missense_Mutation_p.V160L	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	272	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		AGTGGTGGTGGTATTTATTGA	0.428																																																	0													179.0	160.0	166.0					14																	31354680		2203	4300	6503	SO:0001583	missense	0				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.814G>T	14.37:g.31354680G>T	ENSP00000379862:p.Val272Leu		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.V272L	ENST00000396618.3	37	c.814	CCDS9640.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.4|29.4	4.999913|4.999913	0.93227|0.93227	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000555881;ENST00000460581;ENST00000542225;ENST00000382493|ENST00000468826	T;T;T;T;T;T|.	0.81078|.	-1.45;-1.45;-1.45;-0.79;-1.45;-1.45|.	5.6|5.6	5.6|5.6	0.85130|0.85130	von Willebrand factor, type A (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.60805|0.60805	0.2297|0.2297	L|L	0.33753|0.33753	1.03|1.03	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.998;0.992;0.992|.	D;D;D|.	0.85130|.	0.997;0.992;0.992|.	T|T	0.54344|0.54344	-0.8308|-0.8308	10|5	0.54805|.	T|.	0.06|.	-10.6472|-10.6472	19.6182|19.6182	0.95643|0.95643	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	123;272;272|.	E7EN67;Q96IU6;O43405|.	.;.;COCH_HUMAN|.	L|C	272;272;272;154;160;160;123|155	ENSP00000216361:V272L;ENSP00000379862:V272L;ENSP00000451528:V272L;ENSP00000452569:V154L;ENSP00000451713:V160L;ENSP00000371933:V123L|.	ENSP00000216361:V272L|.	V|W	+|+	1|3	0|0	COCH|COCH	30424431|30424431	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.990000|0.990000	0.78478|0.78478	7.511000|7.511000	0.81718|0.81718	2.626000|2.626000	0.88956|0.88956	0.650000|0.650000	0.86243|0.86243	GTA|TGG	COCH	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000100473		0.428	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	COCH	HGNC	protein_coding	OTTHUMT00000276608.1	-	0.00	102	0	G	NM_004086		31354680	+1	tier1	-	no_errors	ENST00000216361	ensembl	human	known	74_37	missense	6.67	55	4	SNP	1.000	T
COL9A3	1299	genome.wustl.edu	37	20	61472147	61472147	+	3'UTR	SNP	C	C	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr20:61472147C>T	ENST00000343916.3	+	0	2121				COL9A3_ENST00000462700.1_3'UTR	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CATGAAGGAGCGGGGGTGTGG	0.652																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.*63C>T	20.37:g.61472147C>T			Q13681|Q9H4G9|Q9UPE2	RNA	SNP	-	NULL	ENST00000343916.3	37	NULL	CCDS13505.1	20																																																																																			COL9A3	-	-	ENSG00000092758		0.652	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	-	0.00	50	0	C	NM_001853		61472147	+1	tier1	-	no_errors	ENST00000462700	ensembl	human	putative	74_37	rna	19.67	49	12	SNP	0.000	T
CPA1	1357	genome.wustl.edu	37	7	130021558	130021558	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr7:130021558C>G	ENST00000011292.3	+	3	385	c.235C>G	c.(235-237)Ctg>Gtg	p.L79V	CPA1_ENST00000484324.1_5'UTR	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	79					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAAGATCTTTCTGGAGTCCCA	0.652											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													71.0	57.0	62.0					7																	130021558		2203	4300	6503	SO:0001583	missense	0				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.235C>G	7.37:g.130021558C>G	ENSP00000011292:p.Leu79Val	1576	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.L79V	ENST00000011292.3	37	c.235	CCDS5820.1	7	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436436	0.43224	.	.	ENSG00000091704	ENST00000011292	T	0.33654	1.4	5.19	3.36	0.38483	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.000000	0.85682	D	0.000000	T	0.59918	0.2229	M	0.85710	2.77	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.61013	-0.7148	10	0.72032	D	0.01	.	8.6919	0.34271	0.0:0.821:0.0:0.179	.	79	P15085	CBPA1_HUMAN	V	79	ENSP00000011292:L79V	ENSP00000011292:L79V	L	+	1	2	CPA1	129808794	1.000000	0.71417	0.996000	0.52242	0.065000	0.16274	1.450000	0.35134	0.565000	0.29255	0.561000	0.74099	CTG	CPA1	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept	ENSG00000091704		0.652	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA1	HGNC	protein_coding	OTTHUMT00000349736.2	-	0.00	76	0	C	NM_001868		130021558	+1	tier1	-	no_errors	ENST00000011292	ensembl	human	known	74_37	missense	30.00	49	21	SNP	1.000	G
CROCCP2	84809	genome.wustl.edu	37	1	16945227	16945227	+	lincRNA	SNP	G	G	T	rs9728628	byFrequency	TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr1:16945227G>T	ENST00000412962.1	-	0	2292				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CATTCTTACAGGCATTACCTT	0.373																																																	0																																												0			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945227G>T			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-	ENSG00000215908		0.373	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	-	0.00	15	0	G	NR_026752.1		16945227	-1	tier1	rs9728628	no_errors	ENST00000412962	ensembl	human	known	74_37	rna	37.50	15	9	SNP	0.004	T
CSPP1	79848	genome.wustl.edu	37	8	67986506	67986506	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr8:67986506G>T	ENST00000262210.5	+	2	158	c.127G>T	c.(127-129)Gaa>Taa	p.E43*	COPS5_ENST00000519963.1_Intron|CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	43					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TAATTTGGATGAATTTATTGA	0.318																																																	0													82.0	86.0	85.0					8																	67986506		1804	4069	5873	SO:0001587	stop_gained	0			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.127G>T	8.37:g.67986506G>T	ENSP00000262210:p.Glu43*		A6ND63|Q70F00|Q8TBC1	Nonsense_Mutation	SNP	NULL	p.E43*	ENST00000262210.5	37	c.127	CCDS43744.1	8	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929270	0.73327	.	.	ENSG00000104218	ENST00000521919;ENST00000262210;ENST00000389042	.	.	.	5.4	1.16	0.20824	.	0.249218	0.18598	U	0.136540	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-6.2003	5.6959	0.17855	0.3534:0.271:0.3756:0.0	.	.	.	.	X	7;43;43	.	ENSP00000262210:E43X	E	+	1	0	CSPP1	68149060	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.180000	0.32005	0.358000	0.24211	-0.251000	0.11542	GAA	CSPP1	-	NULL	ENSG00000104218		0.318	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSPP1	HGNC	protein_coding	OTTHUMT00000379254.1		0.00	40	0	G	NM_024790		67986506	+1			no_errors	ENST00000262210	ensembl	human	known	74_37	nonsense	5.08	56	3	SNP	0.998	T
DBX2	440097	genome.wustl.edu	37	12	45417494	45417494	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:45417494G>T	ENST00000332700.6	-	3	854	c.683C>A	c.(682-684)tCa>tAa	p.S228*		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	228					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TAGTACCTGTGATTCCTTTAG	0.433																																																	0													259.0	258.0	258.0					12																	45417494		2203	4300	6503	SO:0001587	stop_gained	0				CCDS31781.1	12q12	2011-06-20				ENSG00000185610		"""Homeoboxes / ANTP class : NKL subclass"""	33186	protein-coding gene	gene with protein product						11239429	Standard	NM_001004329		Approved	FLJ16139	uc001rok.1	Q6ZNG2	OTTHUMG00000169559	ENST00000332700.6:c.683C>A	12.37:g.45417494G>T	ENSP00000331470:p.Ser228*			Nonsense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	p.S228*	ENST00000332700.6	37	c.683	CCDS31781.1	12	.	.	.	.	.	.	.	.	.	.	G	38	7.158556	0.98103	.	.	ENSG00000185610	ENST00000332700	.	.	.	5.73	5.73	0.89815	.	0.000000	0.53938	D	0.000050	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	-12.6172	19.8932	0.96939	0.0:0.0:1.0:0.0	.	.	.	.	X	228	.	ENSP00000331470:S228X	S	-	2	0	DBX2	43703761	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.807000	0.99171	2.698000	0.92095	0.655000	0.94253	TCA	DBX2	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa	ENSG00000185610		0.433	DBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBX2	HGNC	protein_coding	OTTHUMT00000404810.1	-	0.00	73	0	G	NM_001004329		45417494	-1	tier1	-	no_errors	ENST00000332700	ensembl	human	known	74_37	nonsense	8.06	57	5	SNP	1.000	T
DCT	1638	genome.wustl.edu	37	13	95114434	95114434	+	Silent	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr13:95114434G>A	ENST00000377028.5	-	5	1286	c.873C>T	c.(871-873)gaC>gaT	p.D291D	DCT_ENST00000446125.1_Silent_p.D291D|DCT_ENST00000490854.1_5'UTR	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	291					cell development (GO:0048468)|developmental pigmentation (GO:0048066)|epidermis development (GO:0008544)|melanin biosynthetic process from tyrosine (GO:0006583)|positive regulation of neuroblast proliferation (GO:0002052)|ventricular zone neuroblast division (GO:0021847)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)	copper ion binding (GO:0005507)|dopachrome isomerase activity (GO:0004167)|oxidoreductase activity (GO:0016491)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		GGTGGTTGTAGTCATCCAAGC	0.418																																																	0													99.0	86.0	91.0					13																	95114434		2203	4300	6503	SO:0001819	synonymous_variant	0			D17547	CCDS9470.1, CCDS45060.1	13q32	2012-09-28	2012-09-28		ENSG00000080166	ENSG00000080166	5.3.3.12		2709	protein-coding gene	gene with protein product	"""dopachrome delta-isomerase"""	191275	"""tyrosine-related protein 2"""	TYRP2		8306979	Standard	NM_001922		Approved		uc010afh.3	P40126	OTTHUMG00000017206	ENST00000377028.5:c.873C>T	13.37:g.95114434G>A			Q09GT4	Silent	SNP	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase	p.D291	ENST00000377028.5	37	c.873	CCDS9470.1	13																																																																																			DCT	-	pfam_Tyrosinase,superfamily_Unchr_di-copper_centre	ENSG00000080166		0.418	DCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCT	HGNC	protein_coding	OTTHUMT00000045461.3	-	0.00	73	0	G			95114434	-1	tier1	-	no_errors	ENST00000446125	ensembl	human	known	74_37	silent	40.38	31	21	SNP	0.991	A
DDX50	79009	genome.wustl.edu	37	10	70694630	70694630	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr10:70694630C>G	ENST00000373585.3	+	10	1584	c.1477C>G	c.(1477-1479)Caa>Gaa	p.Q493E	DDX50_ENST00000466265.1_Intron	NM_024045.1	NP_076950.1	Q9BQ39	DDX50_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 50	493	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					membrane (GO:0016020)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	29						ATGTTTTTATCAACCAAGAGA	0.363																																																	0													118.0	127.0	124.0					10																	70694630		2203	4300	6503	SO:0001583	missense	0			AF334103	CCDS7283.1	10q22.2	2010-09-30			ENSG00000107625	ENSG00000107625		"""DEAD-boxes"""	17906	protein-coding gene	gene with protein product		610373				11891046	Standard	NM_024045		Approved	GU2, MGC3199, GUB, RH-II/GuB	uc001jou.3	Q9BQ39	OTTHUMG00000018362	ENST00000373585.3:c.1477C>G	10.37:g.70694630C>G	ENSP00000362687:p.Gln493Glu		Q5VX37|Q8WV76|Q9BWI8	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q493E	ENST00000373585.3	37	c.1477	CCDS7283.1	10	.	.	.	.	.	.	.	.	.	.	C	12.92	2.082323	0.36758	.	.	ENSG00000107625	ENST00000373585;ENST00000541832	T	0.04502	3.61	5.33	5.33	0.75918	Helicase, C-terminal (1);	0.158047	0.64402	D	0.000018	T	0.03651	0.0104	N	0.13327	0.33	0.46241	D	0.998942	B	0.17268	0.021	B	0.12156	0.007	T	0.52711	-0.8539	10	0.16420	T	0.52	-9.288	14.9481	0.71047	0.0:0.8575:0.1425:0.0	.	493	Q9BQ39	DDX50_HUMAN	E	493	ENSP00000362687:Q493E	ENSP00000362687:Q493E	Q	+	1	0	DDX50	70364636	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.410000	0.66381	2.650000	0.89964	0.655000	0.94253	CAA	DDX50	-	superfamily_P-loop_NTPase,pfscan_Helicase_C	ENSG00000107625		0.363	DDX50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX50	HGNC	protein_coding	OTTHUMT00000048363.1	-	0.00	34	0	C	NM_024045		70694630	+1	tier1	-	no_errors	ENST00000373585	ensembl	human	known	74_37	missense	44.83	16	13	SNP	1.000	G
DNAH5	1767	genome.wustl.edu	37	5	13928260	13928260	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:13928260C>G	ENST00000265104.4	-	3	324	c.220G>C	c.(220-222)Gtt>Ctt	p.V74L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	74	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGACCTCCAACAGCAAAAAGT	0.338									Kartagener syndrome																																								0													97.0	100.0	99.0					5																	13928260		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.220G>C	5.37:g.13928260C>G	ENSP00000265104:p.Val74Leu		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.V74L	ENST00000265104.4	37	c.220	CCDS3882.1	5	.	.	.	.	.	.	.	.	.	.	C	14.62	2.590662	0.46214	.	.	ENSG00000039139	ENST00000265104	T	0.22336	1.96	5.32	4.44	0.53790	.	0.630111	0.16544	N	0.209797	T	0.24736	0.0600	L	0.54323	1.7	0.28167	N	0.928736	B	0.06786	0.001	B	0.11329	0.006	T	0.12319	-1.0552	10	0.52906	T	0.07	.	15.7698	0.78157	0.0:0.7267:0.2733:0.0	.	74	Q8TE73	DYH5_HUMAN	L	74	ENSP00000265104:V74L	ENSP00000265104:V74L	V	-	1	0	DNAH5	13981260	0.001000	0.12720	0.749000	0.31150	0.933000	0.57130	1.280000	0.33202	1.360000	0.45960	0.655000	0.94253	GTT	DNAH5	-	NULL	ENSG00000039139		0.338	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	-	0.00	32	0	C	NM_001369		13928260	-1	tier1	-	no_errors	ENST00000265104	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.757	G
DSEL	92126	genome.wustl.edu	37	18	65181701	65181701	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr18:65181701C>G	ENST00000310045.7	-	2	1648	c.175G>C	c.(175-177)Gat>Cat	p.D59H	RP11-638L3.1_ENST00000583687.1_lincRNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	49					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGTCTGAAATCTTGCACTTTC	0.373																																																	0													119.0	111.0	114.0					18																	65181701		2203	4300	6503	SO:0001583	missense	0			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.175G>C	18.37:g.65181701C>G	ENSP00000310565:p.Asp59His		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas	p.D59H	ENST00000310045.7	37	c.175	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	C	19.00	3.741042	0.69304	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.25085	1.82	4.54	4.54	0.55810	.	0.542019	0.16716	U	0.202459	T	0.21801	0.0525	L	0.34521	1.04	0.28812	N	0.898157	P	0.37864	0.61	B	0.37198	0.243	T	0.11324	-1.0592	10	0.56958	D	0.05	-9.8959	13.1699	0.59591	0.0:0.9192:0.0:0.0808	.	49	Q8IZU8	DSEL_HUMAN	H	59;49	ENSP00000310565:D59H	ENSP00000310565:D59H	D	-	1	0	DSEL	63332681	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.528000	0.45624	2.261000	0.74972	0.561000	0.74099	GAT	DSEL	-	NULL	ENSG00000171451		0.373	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	-	0.00	27	0	C	NM_032160		65181701	-1	tier1	-	no_errors	ENST00000310045	ensembl	human	known	74_37	missense	21.74	17	5	SNP	0.776	G
DYRK4	8798	genome.wustl.edu	37	12	4708255	4708255	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:4708255C>G	ENST00000540757.2	+	7	782	c.622C>G	c.(622-624)Cgg>Ggg	p.R208G	DYRK4_ENST00000010132.5_Missense_Mutation_p.R208G|DYRK4_ENST00000543431.1_Missense_Mutation_p.R208G	NM_001282285.1|NM_001282286.1|NM_003845.1	NP_001269214.1|NP_001269215.1|NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	208	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GTCCATAGTTCGGCGCTTCAC	0.438																																																	0													159.0	151.0	154.0					12																	4708255		2203	4300	6503	SO:0001583	missense	0			Y09305	CCDS8530.1	12p13.32	2014-09-11			ENSG00000010219	ENSG00000010219			3095	protein-coding gene	gene with protein product		609181				9748265	Standard	NM_003845		Approved		uc001qmx.3	Q9NR20	OTTHUMG00000168204	ENST00000540757.2:c.622C>G	12.37:g.4708255C>G	ENSP00000441755:p.Arg208Gly		A8K8F7|Q8NEF2|Q92631	Missense_Mutation	SNP	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.R208G	ENST00000540757.2	37	c.622	CCDS8530.1	12	.	.	.	.	.	.	.	.	.	.	C	21.4	4.145596	0.77888	.	.	ENSG00000010219	ENST00000542744;ENST00000540757;ENST00000010132;ENST00000543431	T;T;T;T	0.22743	1.94;1.94;1.94;1.94	5.29	5.29	0.74685	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	0.85682	D	0.000000	T	0.51415	0.1673	M	0.81942	2.565	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.981;0.971	T	0.56848	-0.7911	10	0.87932	D	0	.	18.5481	0.91054	0.0:1.0:0.0:0.0	.	323;208;208	F5H6L9;Q9NR20-2;Q9NR20	.;.;DYRK4_HUMAN	G	323;208;208;208	ENSP00000437534:R323G;ENSP00000441755:R208G;ENSP00000010132:R208G;ENSP00000439697:R208G	ENSP00000010132:R208G	R	+	1	2	DYRK4	4578516	1.000000	0.71417	0.975000	0.42487	0.622000	0.37654	4.623000	0.61247	2.467000	0.83353	0.555000	0.69702	CGG	DYRK4	-	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	ENSG00000010219		0.438	DYRK4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DYRK4	HGNC	protein_coding	OTTHUMT00000398780.2	-	0.00	103	0	C			4708255	+1	tier1	-	no_errors	ENST00000010132	ensembl	human	known	74_37	missense	6.54	142	10	SNP	1.000	G
EFTUD1	79631	genome.wustl.edu	37	15	82554093	82554093	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr15:82554093C>A	ENST00000268206.7	-	2	195	c.27G>T	c.(25-27)atG>atT	p.M9I	EFTUD1_ENST00000359445.3_Missense_Mutation_p.M9I|FAM154B_ENST00000566205.1_5'Flank|FAM154B_ENST00000427381.2_5'Flank|FAM154B_ENST00000566861.1_5'Flank|FAM154B_ENST00000565432.1_5'Flank|FAM154B_ENST00000339465.5_5'Flank	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	9					GTP catabolic process (GO:0006184)|mature ribosome assembly (GO:0042256)		GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ribosome binding (GO:0043022)|translation elongation factor activity (GO:0003746)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GGAGTTGAATCATCTTATCCA	0.348																																																	0													143.0	125.0	131.0					15																	82554093		1828	4098	5926	SO:0001583	missense	0			AK056656	CCDS42070.1, CCDS42071.1	15q25.2	2012-07-04			ENSG00000140598	ENSG00000140598			25789	protein-coding gene	gene with protein product	"""ribosome assembly 1 homolog (yeast)"""					14702039	Standard	NM_024580		Approved	FLJ13119, FAM42A, HsT19294, RIA1	uc002bgt.1	Q7Z2Z2	OTTHUMG00000172573	ENST00000268206.7:c.27G>T	15.37:g.82554093C>A	ENSP00000268206:p.Met9Ile		A6NKY5|B7Z6I0|Q9H8Z6	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.M9I	ENST00000268206.7	37	c.27	CCDS42071.1	15	.	.	.	.	.	.	.	.	.	.	C	8.977	0.974429	0.18736	.	.	ENSG00000140598	ENST00000268206;ENST00000359445	T;T	0.75477	-0.94;-0.94	3.71	3.71	0.42584	.	0.265610	0.30969	N	0.008515	T	0.40448	0.1117	N	0.01086	-1.025	0.32412	N	0.550527	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.43814	-0.9368	10	0.28530	T	0.3	-3.5302	6.4092	0.21682	0.0:0.7078:0.1889:0.1033	.	9;9	Q7Z2Z2-2;Q7Z2Z2	.;ETUD1_HUMAN	I	9	ENSP00000268206:M9I;ENSP00000352418:M9I	ENSP00000268206:M9I	M	-	3	0	EFTUD1	80341148	1.000000	0.71417	0.965000	0.40720	0.967000	0.64934	1.466000	0.35310	1.914000	0.55421	0.536000	0.68110	ATG	EFTUD1	-	superfamily_P-loop_NTPase	ENSG00000140598		0.348	EFTUD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EFTUD1	HGNC	protein_coding	OTTHUMT00000419252.1	-	0.00	81	0	C	NM_024580		82554093	-1	tier1	-	no_errors	ENST00000268206	ensembl	human	known	74_37	missense	5.19	73	4	SNP	0.988	A
EGFR	1956	genome.wustl.edu	37	7	55273280	55273280	+	Silent	SNP	G	G	A	rs202156403		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr7:55273280G>A	ENST00000275493.2	+	28	3780	c.3603G>A	c.(3601-3603)gcG>gcA	p.A1201A	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Silent_p.A1148A	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1201					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A1201A(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TAAGGGTCGCGCCACAAAGCA	0.498		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	1	Substitution - coding silent(1)	ovary(1)											62.0	60.0	61.0					7																	55273280		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.3603G>A	7.37:g.55273280G>A			O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A1201	ENST00000275493.2	37	c.3603	CCDS5514.1	7																																																																																			EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt	ENSG00000146648		0.498	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	-	0.00	41	0	G	NM_005228		55273280	+1	tier1	rs202156403	no_errors	ENST00000275493	ensembl	human	known	74_37	silent	25.00	39	13	SNP	0.241	A
EIF2S3	1968	genome.wustl.edu	37	X	24075597	24075597	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chrX:24075597C>T	ENST00000253039.4	+	3	446	c.193C>T	c.(193-195)Cat>Tat	p.H65Y		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	65	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						TTCTGGAGTTCATACTGTCAG	0.348																																																	0													69.0	66.0	67.0					X																	24075597		2203	4300	6503	SO:0001583	missense	0			L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"""eukaryotic translation initiation factor 2G"""	300161	"""eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"""	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.193C>T	X.37:g.24075597C>T	ENSP00000253039:p.His65Tyr		B5BTZ4	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom	p.H65Y	ENST00000253039.4	37	c.193	CCDS14210.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.08|15.08	2.727699|2.727699	0.48833|0.48833	.|.	.|.	ENSG00000130741|ENSG00000130741	ENST00000253039|ENST00000423068	T|.	0.61859|.	0.07|.	5.22|5.22	5.22|5.22	0.72569|0.72569	Protein synthesis factor, GTP-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73179|0.73179	0.3554|0.3554	M|M	0.63428|0.63428	1.95|1.95	0.80722|0.80722	D|D	1|1	B|.	0.16802|.	0.019|.	B|.	0.23275|.	0.045|.	T|T	0.72040|0.72040	-0.4410|-0.4410	10|5	0.06891|.	T|.	0.86|.	.|.	18.1221|18.1221	0.89574|0.89574	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	65|.	P41091|.	IF2G_HUMAN|.	Y|L	65|64	ENSP00000253039:H65Y|.	ENSP00000253039:H65Y|.	H|S	+|+	1|2	0|0	EIF2S3|EIF2S3	23985518|23985518	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.823000|0.823000	0.46562|0.46562	7.401000|7.401000	0.79962|0.79962	2.303000|2.303000	0.77524|0.77524	0.513000|0.513000	0.50165|0.50165	CAT|TCA	EIF2S3	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase	ENSG00000130741		0.348	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S3	HGNC	protein_coding	OTTHUMT00000056079.1	-	0.00	65	0	C	NM_001415		24075597	+1	tier1	-	no_errors	ENST00000253039	ensembl	human	known	74_37	missense	35.00	26	14	SNP	1.000	T
ZNF540	163255	genome.wustl.edu	37	19	38039849	38039849	+	5'Flank	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr19:38039849G>A	ENST00000592533.1	+	0	0				CTD-3064H18.4_ENST00000316807.2_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000592575.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000588382.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540						negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCCCCCAGGCGTCTGTGGCAG	0.687																																																	0																																										SO:0001631	upstream_gene_variant	0			AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6			19.37:g.38039849G>A	Exception_encountered		A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	RNA	SNP	-	NULL	ENST00000592533.1	37	NULL	CCDS12506.1	19																																																																																			CTD-3064H18.4	-	-	ENSG00000180458		0.687	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000180458	Clone_based_vega_gene	protein_coding	OTTHUMT00000459481.1	-	0.00	78	0	G	NM_152606		38039849	-1	tier1	-	no_errors	ENST00000316807	ensembl	human	known	74_37	rna	5.05	94	5	SNP	0.005	A
NAP1L4	4676	genome.wustl.edu	37	11	3012266	3012266	+	Intron	SNP	A	A	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr11:3012266A>T	ENST00000380542.4	-	1	124				AC131971.1_ENST00000332881.2_Start_Codon_SNP_p.M1L|NAP1L4_ENST00000526115.1_Intron	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4						nucleosome assembly (GO:0006334)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		GGAAAAAGTAATGCAGACTGG	0.453																																																	0																																										SO:0001627	intron_variant	0			AA573896, BC022090, U77456	CCDS41599.1	11p15.5	2007-12-06			ENSG00000205531	ENSG00000205531			7640	protein-coding gene	gene with protein product		601651				8923002	Standard	NM_005969		Approved	NAP2	uc001lxc.3	Q99733	OTTHUMG00000011009	ENST00000380542.4:c.16+1217T>A	11.37:g.3012266A>T			B2R6J4|F5HFY4	Missense_Mutation	SNP	NULL	p.M1L	ENST00000380542.4	37	c.1	CCDS41599.1	11	.	.	.	.	.	.	.	.	.	.	A	8.063	0.768529	0.15983	.	.	ENSG00000183562	ENST00000332881	.	.	.	1.61	-1.27	0.09347	.	.	.	.	.	T	0.33760	0.0874	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.38735	-0.9647	5	0.87932	D	0	.	2.3323	0.04239	0.4866:0.3052:0.2081:0.0	.	.	.	.	L	1	.	ENSP00000332290:M1L	M	+	1	0	AC131971.1	2968842	0.000000	0.05858	0.000000	0.03702	0.126000	0.20510	-0.498000	0.06420	-0.320000	0.08640	0.172000	0.16884	ATG	AC131971.1	-	NULL	ENSG00000183562		0.453	NAP1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000183562	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000030273.3	-	0.00	16	0	A	NM_005969		3012266	+1	tier1	-	no_errors	ENST00000332881	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.000	T
YEATS2	55689	genome.wustl.edu	37	3	183520323	183520324	+	Intron	INS	-	-	TA	rs11276625|rs74710373	byFrequency	TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr3:183520323_183520324insTA	ENST00000305135.5	+	26	3697				AC131160.1_ENST00000401347.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			atatacacgtgtatatacacac	0.332														2148	0.428914	0.2602	0.4568	5008	,	,		21295	0.5228		0.4642	False		,,,				2504	0.5041																0																																										SO:0001627	intron_variant	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3503-720->TA	3.37:g.183520328_183520329dupTA			A7E2B9|D3DNS9|Q641P6|Q9NW96	RNA	INS	-	NULL	ENST00000305135.5	37	NULL	CCDS43175.1	3																																																																																			AC131160.1	-	-	ENSG00000216166		0.332	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216166	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000346507.2		0.00	16	0	-	NM_018023		183520324	-1	tier1		no_errors	ENST00000401347	ensembl	human	novel	74_37	rna	26.32	14	5	INS	0.000:0.000	TA
AC099552.4	0	genome.wustl.edu	37	7	154989089	154989089	+	Intron	SNP	T	T	C			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr7:154989089T>C	ENST00000404289.1	-	2	168																											TGGTCACTTATAGAAAATGCA	0.423																																																	0																																										SO:0001627	intron_variant	0																														ENST00000404289.1:c.33-5A>G	7.37:g.154989089T>C				Missense_Mutation	SNP	NULL	p.Y16C	ENST00000404289.1	37	c.47		7																																																																																			AC099552.4	-	NULL	ENSG00000217825		0.423	AC099552.4-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000217825	Clone_based_vega_gene	protein_coding	OTTHUMT00000322236.1	-	0.00	68	0	T			154989089	-1	tier1	-	no_errors	ENST00000431083	ensembl	human	known	74_37	missense	28.07	41	16	SNP	0.100	C
AQP7	364	genome.wustl.edu	37	9	33402930	33402931	+	5'Flank	INS	-	-	G			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr9:33402930_33402931insG	ENST00000537089.1	-	0	0				AQP7_ENST00000541274.1_5'Flank|RP11-311H10.4_ENST00000450864.1_RNA|AQP7_ENST00000377425.4_5'Flank|AQP7_ENST00000539936.1_5'Flank			O14520	AQP7_HUMAN	aquaporin 7						excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GTGGAGGGGACGGGGGAGGCCC	0.629																																																	0																																										SO:0001631	upstream_gene_variant	0			AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773		9.37:g.33402935_33402935dupG	Exception_encountered		Q08E94|Q5T5L9|Q8NHM3	RNA	INS	-	NULL	ENST00000537089.1	37	NULL		9																																																																																			RP11-311H10.4	-	-	ENSG00000223678		0.629	AQP7-202	KNOWN	basic	protein_coding	ENSG00000223678	Clone_based_vega_gene	protein_coding			0.00	8	0	-	NM_001170		33402931	+1	tier1		no_errors	ENST00000450864	ensembl	human	known	74_37	rna	75.00	1	3	INS	0.000:0.000	G
LMX1A	4009	genome.wustl.edu	37	1	165180170	165180170	+	Intron	SNP	G	G	C			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr1:165180170G>C	ENST00000342310.3	-	6	1052				LMX1A_ENST00000489443.2_Intron|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000367893.4_Intron|LMX1A_ENST00000294816.2_Intron	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha						axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|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(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CGAGAACATTGCTTCCCTTCA	0.358																																																	0																																										SO:0001627	intron_variant	0			AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.670-157C>G	1.37:g.165180170G>C			B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	RNA	SNP	-	NULL	ENST00000342310.3	37	NULL	CCDS1247.1	1																																																																																			RP11-38C18.2	-	-	ENSG00000224702		0.358	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224702	Clone_based_vega_gene	protein_coding	OTTHUMT00000083668.2	-	0.00	13	0	G	NM_177398		165180170	+1	tier1	-	no_errors	ENST00000457106	ensembl	human	known	74_37	rna	50.00	5	5	SNP	0.000	C
MUC3A	4584	genome.wustl.edu	37	7	100608123	100608124	+	Intron	INS	-	-	G	rs111295588		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr7:100608123_100608124insG	ENST00000319509.7	+	6	2041				RP11-395B7.2_ENST00000434775.1_RNA|RP11-395B7.2_ENST00000420080.1_RNA			Q02505	MUC3A_HUMAN	mucin 3A, cell surface associated						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|extracellular matrix structural constituent (GO:0005201)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						CAGCATTTCCCGATGGCTGAAG	0.589																																																	0																																										SO:0001627	intron_variant	0			AF113616		7q22.1	2012-04-20	2006-03-14		ENSG00000169894	ENSG00000169894		"""Mucins"""	7513	protein-coding gene	gene with protein product		158371	"""mucin 3A, intestinal"""	MUC3		2393399, 10973822	Standard	XM_006710192		Approved		uc003uxl.1	Q02505	OTTHUMG00000157038	ENST00000319509.7:c.2042-183->G	7.37:g.100608124_100608124dupG			O14650|O14651|O43418|O43421|Q02506|Q6W763|Q9H3Q7|Q9UKW9|Q9UN93|Q9UN94|Q9UN95	RNA	INS	-	NULL	ENST00000319509.7	37	NULL		7																																																																																			RP11-395B7.2	-	-	ENSG00000225946		0.589	MUC3A-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	protein_coding	ENSG00000225946	Clone_based_vega_gene	protein_coding	OTTHUMT00000347215.1		0.00	18	0	-	XM_001725354		100608124	-1	tier1		no_errors	ENST00000420080	ensembl	human	known	74_37	rna	21.43	22	6	INS	0.000:0.037	G
TCF7L2	6934	genome.wustl.edu	37	10	114710508	114710508	+	5'UTR	DEL	A	A	-			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr10:114710508delA	ENST00000355995.4	+	0	500				TCF7L2_ENST00000369395.1_5'UTR|TCF7L2_ENST00000538897.1_5'UTR|TCF7L2_ENST00000349937.2_5'UTR|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000543371.1_5'UTR|TCF7L2_ENST00000355717.4_5'UTR|TCF7L2_ENST00000352065.5_5'UTR|TCF7L2_ENST00000369397.4_5'UTR|TCF7L2_ENST00000542695.1_5'Flank|TCF7L2_ENST00000536810.1_5'UTR|TCF7L2_ENST00000545257.1_5'UTR|TCF7L2_ENST00000534894.1_5'UTR			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)						blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CTGGTGGGTGAAAAAAAAATG	0.473			T	VTI1A	colorectal																																			Dom	yes		10	10q25.3	6934	transcription factor 7-like 2		E	0									,,,,,,,,,,,,	175,168,3861		7,0,161,1,166,1767	14.0	14.0	14.0		,,,,,,,,,,,,	3.5	1.0	10		14	111,333,7730		2,0,107,8,317,3653	no	utr-5,utr-5,utr-5,utr-5,utr-5,utr-5,utr-5,utr-5,utr-5,utr-5,utr-5,utr-5,utr-5	TCF7L2	NM_030756.4,NM_001198531.1,NM_001198530.1,NM_001198529.1,NM_001198528.1,NM_001198527.1,NM_001198526.1,NM_001198525.1,NM_001146286.1,NM_001146285.1,NM_001146284.1,NM_001146283.1,NM_001146274.1	,,,,,,,,,,,,	9,0,268,9,483,5420	A1A1,A1A2,A1R,A2A2,A2R,RR		5.4319,8.1589,6.3581	,,,,,,,,,,,,	,,,,,,,,,,,,	114710508	286,501,11591	2179	4271	6450	SO:0001623	5_prime_UTR_variant	0			X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.-8A>-	10.37:g.114710508delA			B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	RNA	DEL	-	NULL	ENST00000355995.4	37	NULL		10																																																																																			RP11-57H14.2	-	-	ENSG00000233547		0.473	TCF7L2-203	KNOWN	basic	protein_coding	ENSG00000233547	Clone_based_vega_gene	protein_coding			0.00	33	0	A	NM_030756		114710508	-1	tier1		no_errors	ENST00000369391	ensembl	human	known	74_37	rna	15.15	28	5	DEL	0.999	-
CUBNP1	728064	genome.wustl.edu	37	10	43199368	43199368	+	lincRNA	SNP	C	C	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr10:43199368C>T	ENST00000439913.1	+	0	1432																											CATGCTTTGCCTTTCTTGGAA	0.393																																																	0																																												0																															10.37:g.43199368C>T				RNA	SNP	-	NULL	ENST00000439913.1	37	NULL		10																																																																																			AL022344.5	-	-	ENSG00000234864		0.393	AL022344.5-001	KNOWN	basic	lincRNA	ENSG00000234864	Clone_based_vega_gene	lincRNA	OTTHUMT00000047688.1	-	0.00	46	0	C			43199368	+1	tier1	-	no_errors	ENST00000439913	ensembl	human	known	74_37	rna	29.73	26	11	SNP	0.573	T
RP11-403I13.8	0	genome.wustl.edu	37	1	149291295	149291295	+	lincRNA	SNP	G	G	A	rs61789501		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr1:149291295G>A	ENST00000433084.1	+	0	1538																											tacacaagccgtaactactgc	0.458																																																	0																																												0																															1.37:g.149291295G>A				RNA	SNP	-	NULL	ENST00000433084.1	37	NULL		1																																																																																			RP11-403I13.8	-	-	ENSG00000235999		0.458	RP11-403I13.8-001	KNOWN	basic	lincRNA	ENSG00000235999	Clone_based_vega_gene	lincRNA	OTTHUMT00000099633.1		0.00	19	0	G			149291295	+1			no_errors	ENST00000433084	ensembl	human	known	74_37	rna	8.33	33	3	SNP	0.029	A
TEX40	25858	genome.wustl.edu	37	11	64067761	64067761	+	5'Flank	SNP	C	C	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr11:64067761C>T	ENST00000328404.6	+	0	0				RP11-783K16.10_ENST00000539086.1_RNA|TEX40_ENST00000539943.1_5'Flank	NM_001039496.1	NP_001034585.1	Q9NTU4	TEX40_HUMAN	testis expressed 40						cell differentiation (GO:0030154)|male meiosis (GO:0007140)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)											AATGGCATCTCGCGTGGAGGG	0.662																																																	0																																										SO:0001631	upstream_gene_variant	0					11q13.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000219435	ENSG00000219435			19231	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 20"""	C11orf20			Standard	NM_001039496		Approved	DKFZP566E164	uc009ypm.3	Q9NTU4	OTTHUMG00000167820		11.37:g.64067761C>T	Exception_encountered			RNA	SNP	-	NULL	ENST00000328404.6	37	NULL		11																																																																																			RP11-783K16.10	-	-	ENSG00000257069		0.662	TEX40-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000257069	Clone_based_vega_gene	protein_coding		-	0.00	17	0	C	NM_001039496		64067761	+1	tier1	-	no_errors	ENST00000539086	ensembl	human	known	74_37	rna	20.00	20	5	SNP	0.000	T
RP11-597A11.2	0	genome.wustl.edu	37	14	20147023	20147023	+	lincRNA	SNP	T	T	C			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr14:20147023T>C	ENST00000547175.1	+	0	0				RP11-597A11.1_ENST00000548261.1_RNA|RP11-597A11.6_ENST00000555580.1_lincRNA																							GCCAGTCTCTTTCACGATTCT	0.582																																																	0																																												0																															14.37:g.20147023T>C				RNA	SNP	-	NULL	ENST00000547175.1	37	NULL		14																																																																																			RP11-597A11.6	-	-	ENSG00000259069		0.582	RP11-597A11.2-001	KNOWN	basic	lincRNA	ENSG00000259069	Clone_based_vega_gene	lincRNA	OTTHUMT00000409598.1	-	0.00	173	0	T			20147023	-1	tier1	-	no_errors	ENST00000555580	ensembl	human	known	74_37	rna	29.05	127	52	SNP	1.000	C
RP11-133K1.6	0	genome.wustl.edu	37	15	40605564	40605566	+	lincRNA	DEL	TTT	TTT	-	rs34245616|rs368303140		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	TTT	TTT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr15:40605564_40605566delTTT	ENST00000559030.1	+	0	749_751																											CAAGAGAGAGTTTTTTTtttttt	0.473																																																	0																																												0																															15.37:g.40605573_40605575delTTT				RNA	DEL	-	NULL	ENST00000559030.1	37	NULL		15																																																																																			RP11-133K1.6	-	-	ENSG00000259198		0.473	RP11-133K1.6-001	KNOWN	basic	lincRNA	ENSG00000259198	Clone_based_vega_gene	lincRNA	OTTHUMT00000418442.1		0.00	13	0	TTT			40605566	+1	tier1		no_errors	ENST00000559030	ensembl	human	known	74_37	rna	33.33	4	2	DEL	0.014:0.013:0.014	-
EPB41L4A	64097	genome.wustl.edu	37	5	111481669	111481669	+	5'UTR	SNP	C	C	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:111481669C>T	ENST00000507810.1	-	0	1020							Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)				breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		gttctctgccctttctaggtc	0.443																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AB030240	CCDS43350.1	5q21.3	2008-02-05			ENSG00000129595	ENSG00000129595			13278	protein-coding gene	gene with protein product		612141				10874211	Standard	XM_005272043		Approved	NBL4	uc003kpv.1	Q9HCS5	OTTHUMG00000162902	ENST00000507810.1:c.-1532G>A	5.37:g.111481669C>T			A4FUI6	RNA	SNP	-	NULL	ENST00000507810.1	37	NULL		5																																																																																			EPB41L4A	-	-	ENSG00000129595		0.443	EPB41L4A-007	KNOWN	basic	processed_transcript	EPB41L4A	HGNC	protein_coding	OTTHUMT00000370975.1	-	0.00	90	0	C			111481669	-1	tier1	-	no_errors	ENST00000507810	ensembl	human	known	74_37	rna	33.72	57	29	SNP	0.000	T
ESPL1	9700	genome.wustl.edu	37	12	53668781	53668781	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:53668781G>T	ENST00000257934.4	+	7	1778	c.1687G>T	c.(1687-1689)Gag>Tag	p.E563*	ESPL1_ENST00000552462.1_Nonsense_Mutation_p.E563*	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	563					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TGGAGACAAGGAGCTACAGCT	0.587																																					Colon(53;1069 1201 2587 5382)												0													51.0	51.0	51.0					12																	53668781		2203	4300	6503	SO:0001587	stop_gained	0			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.1687G>T	12.37:g.53668781G>T	ENSP00000257934:p.Glu563*			Nonsense_Mutation	SNP	pfam_Peptidase_C50,superfamily_DsrEFH-like	p.E563*	ENST00000257934.4	37	c.1687	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.869457	0.97897	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	.	.	.	5.91	5.02	0.67125	.	0.175614	0.49305	D	0.000150	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.797	0.57564	0.079:0.0:0.921:0.0	.	.	.	.	X	563;238;563	.	ENSP00000257934:E563X	E	+	1	0	ESPL1	51955048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.833000	0.75334	1.499000	0.48617	0.650000	0.86243	GAG	ESPL1	-	NULL	ENSG00000135476		0.587	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	-	0.00	48	0	G	NM_012291		53668781	+1	tier1	-	no_errors	ENST00000257934	ensembl	human	known	74_37	nonsense	22.22	28	8	SNP	1.000	T
EVPLL	645027	genome.wustl.edu	37	17	18292454	18292454	+	3'UTR	SNP	C	C	G	rs199697056		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr17:18292454C>G	ENST00000399134.4	+	0	1588				EVPLL_ENST00000583003.1_3'UTR|RP1-37N7.1_ENST00000579352.1_RNA	NM_001145127.1	NP_001138599.1	A8MZ36	EVPLL_HUMAN	envoplakin-like											NS(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GCAGCTCCCACGCTGCCCCTA	0.587																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS45626.1	17p11.2	2009-08-25			ENSG00000214860	ENSG00000214860			35236	protein-coding gene	gene with protein product							Standard	NM_001145127		Approved		uc002gte.3	A8MZ36	OTTHUMG00000059095	ENST00000399134.4:c.*324C>G	17.37:g.18292454C>G			B4DPD4	RNA	SNP	-	NULL	ENST00000399134.4	37	NULL	CCDS45626.1	17																																																																																			EVPLL	-	-	ENSG00000214860		0.587	EVPLL-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EVPLL	HGNC	protein_coding	OTTHUMT00000130836.2	-	0.00	13	0	C	NM_001145127		18292454	+1	tier1	rs199697056	no_errors	ENST00000583003	ensembl	human	putative	74_37	rna	33.33	6	3	SNP	0.006	G
EYS	346007	genome.wustl.edu	37	6	66005908	66005908	+	Missense_Mutation	SNP	G	G	A	rs548565748		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr6:66005908G>A	ENST00000370621.3	-	12	2397	c.1871C>T	c.(1870-1872)tCg>tTg	p.S624L	EYS_ENST00000370616.2_Missense_Mutation_p.S624L|EYS_ENST00000503581.1_Missense_Mutation_p.S624L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	624					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ACAATTGTGCGAAAGGGCCAG	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		13324	0.0		0.0	False		,,,				2504	0.001																0													142.0	111.0	120.0					6																	66005908		692	1591	2283	SO:0001583	missense	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1871C>T	6.37:g.66005908G>A	ENSP00000359655:p.Ser624Leu		A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S624L	ENST00000370621.3	37	c.1871		6	.	.	.	.	.	.	.	.	.	.	.	4.454	0.084011	0.08583	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.80824	-1.42;-1.42;-1.42	5.48	1.33	0.21861	.	.	.	.	.	T	0.25938	0.0632	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36311	-0.9753	9	0.07325	T	0.83	.	6.2659	0.20925	0.6132:0.3054:0.0815:0.0	.	624	Q5T1H1-1	.	L	624	ENSP00000424243:S624L;ENSP00000359655:S624L;ENSP00000359650:S624L	ENSP00000359650:S624L	S	-	2	0	EYS	66062629	0.917000	0.31117	0.002000	0.10522	0.007000	0.05969	2.092000	0.41700	0.027000	0.15297	-0.423000	0.05987	TCG	EYS	-	NULL	ENSG00000188107		0.433	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0.00	55	0	G	XM_294050		66005908	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	missense	26.19	31	11	SNP	0.041	A
FAM154A	158297	genome.wustl.edu	37	9	18928750	18928750	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr9:18928750T>A	ENST00000380534.4	-	4	1004	c.725A>T	c.(724-726)cAa>cTa	p.Q242L	FAM154A_ENST00000542071.1_Missense_Mutation_p.Q50L|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	242										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CCGGTAGGATTGTTTTTGAGT	0.537																																																	0													66.0	73.0	70.0					9																	18928750		2203	4300	6503	SO:0001583	missense	0			BC033489	CCDS6487.1, CCDS75819.1, CCDS75820.1	9p22.1	2012-03-23	2008-02-21	2008-02-21	ENSG00000155875	ENSG00000155875			28566	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 138"""	C9orf138		12477932	Standard	NM_153707		Approved	MGC35182	uc003zni.2	Q8IYX7	OTTHUMG00000019609	ENST00000380534.4:c.725A>T	9.37:g.18928750T>A	ENSP00000369907:p.Gln242Leu		Q5VY58	Missense_Mutation	SNP	NULL	p.Q242L	ENST00000380534.4	37	c.725	CCDS6487.1	9	.	.	.	.	.	.	.	.	.	.	T	0.287	-0.982743	0.02180	.	.	ENSG00000155875	ENST00000380534;ENST00000542071	T;T	0.16324	2.35;2.35	5.09	5.09	0.68999	.	0.444894	0.21340	N	0.076145	T	0.11793	0.0287	N	0.17474	0.49	0.09310	N	1	B	0.29212	0.237	B	0.34590	0.186	T	0.27571	-1.0070	10	0.27082	T	0.32	-4.9202	9.8048	0.40786	0.154:0.0:0.0:0.846	.	242	Q8IYX7	F154A_HUMAN	L	242;50	ENSP00000369907:Q242L;ENSP00000438823:Q50L	ENSP00000369907:Q242L	Q	-	2	0	FAM154A	18918750	0.335000	0.24748	0.574000	0.28523	0.128000	0.20619	2.293000	0.43558	2.133000	0.65898	0.528000	0.53228	CAA	FAM154A	-	NULL	ENSG00000155875		0.537	FAM154A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM154A	HGNC	protein_coding	OTTHUMT00000051811.1	-	0.00	92	0	T	NM_153707		18928750	-1	tier1	-	no_errors	ENST00000380534	ensembl	human	known	74_37	missense	7.29	89	7	SNP	0.064	A
FAM172A	83989	genome.wustl.edu	37	5	93388885	93388885	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:93388885G>T	ENST00000395965.3	-	3	296	c.154C>A	c.(154-156)Ccg>Acg	p.P52T	FAM172A_ENST00000509739.1_Missense_Mutation_p.N2K|FAM172A_ENST00000509163.1_Missense_Mutation_p.P6T|FAM172A_ENST00000505869.1_Missense_Mutation_p.P6T|FAM172A_ENST00000504768.2_5'UTR	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	52						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TCAAGAGGCGGTTCATCTTTT	0.284																																																	0													60.0	67.0	65.0					5																	93388885		2200	4280	6480	SO:0001583	missense	0				CCDS4069.1, CCDS54879.1, CCDS54880.1	5q15	2008-06-16	2008-06-16	2008-06-16	ENSG00000113391	ENSG00000113391			25365	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 21"""	C5orf21		11230166	Standard	NM_032042		Approved	DKFZP564D172	uc010jbd.3	Q8WUF8	OTTHUMG00000131329	ENST00000395965.3:c.154C>A	5.37:g.93388885G>T	ENSP00000379294:p.Pro52Thr		B2R7C6|B4DJ14|B4DLG5|Q9H0U8	Missense_Mutation	SNP	pfam_Arb2_domain	p.P52T	ENST00000395965.3	37	c.154	CCDS4069.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.26|15.26	2.782183|2.782183	0.49891|0.49891	.|.	.|.	ENSG00000113391|ENSG00000113391	ENST00000509739|ENST00000395965;ENST00000505869;ENST00000509163	.|T;T	.|0.46063	.|0.88;0.93	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.59459|0.59459	0.2195|0.2195	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999992|0.999992	B;P|D;D;D	0.38504|0.89917	0.328;0.634|1.0;1.0;1.0	B;B|D;D;D	0.34242|0.91635	0.178;0.178|0.998;0.996;0.999	T|T	0.49762|0.49762	-0.8905|-0.8905	8|10	0.87932|0.09843	D|T	0|0.71	-11.7554|-11.7554	18.7286|18.7286	0.91724|0.91724	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2;2|6;52;52	B4DKR7;B4DMI0|B4DJ14;Q8WUF8;Q8WUF8-2	.;.|.;F172A_HUMAN;.	K|T	2|52;6;6	.|ENSP00000379294:P52T;ENSP00000423841:P6T	ENSP00000424097:N2K|ENSP00000379294:P52T	N|P	-|-	3|1	2|0	FAM172A|FAM172A	93414641|93414641	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	8.936000|8.936000	0.92931|0.92931	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	AAC|CCG	FAM172A	-	NULL	ENSG00000113391		0.284	FAM172A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM172A	HGNC	protein_coding	OTTHUMT00000254100.3	-	0.00	78	0	G	NM_032042		93388885	-1	tier1	-	no_errors	ENST00000395965	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	T
FAM196B	100131897	genome.wustl.edu	37	5	169310673	169310673	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:169310673G>T	ENST00000377365.3	-	2	1611	c.230C>A	c.(229-231)cCc>cAc	p.P77H	DOCK2_ENST00000540750.1_Intron|DOCK2_ENST00000256935.8_Intron|FAM196B_ENST00000523970.1_5'Flank|DOCK2_ENST00000523351.1_Intron|DOCK2_ENST00000520908.1_Intron	NM_001129891.1	NP_001123363.1	A6NMK8	F196B_HUMAN	family with sequence similarity 196, member B	77										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)	5						CGAGTAGGTGGGGGGAAGATG	0.552																																																	0													101.0	107.0	105.0					5																	169310673		692	1591	2283	SO:0001583	missense	0				CCDS47336.1	5q35.1	2010-02-17	2009-09-11	2009-09-11	ENSG00000204767	ENSG00000204767			37271	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 57"""	C5orf57			Standard	NM_001129891		Approved		uc003mag.2	A6NMK8	OTTHUMG00000163083	ENST00000377365.3:c.230C>A	5.37:g.169310673G>T	ENSP00000366582:p.Pro77His			Missense_Mutation	SNP	NULL	p.P77H	ENST00000377365.3	37	c.230	CCDS47336.1	5	.	.	.	.	.	.	.	.	.	.	G	17.15	3.315070	0.60524	.	.	ENSG00000204767	ENST00000377365	T	0.44083	0.93	5.43	5.43	0.79202	.	0.451659	0.21167	N	0.079060	T	0.49321	0.1550	L	0.56769	1.78	0.22648	N	0.998896	D	0.63880	0.993	P	0.50378	0.639	T	0.50693	-0.8798	10	0.72032	D	0.01	-5.3432	13.012	0.58737	0.0831:0.0:0.9169:0.0	.	77	A6NMK8	F196B_HUMAN	H	77	ENSP00000366582:P77H	ENSP00000366582:P77H	P	-	2	0	FAM196B	169243251	0.872000	0.30054	0.995000	0.50966	0.923000	0.55619	3.392000	0.52537	2.546000	0.85860	0.655000	0.94253	CCC	FAM196B	-	NULL	ENSG00000204767		0.552	FAM196B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM196B	HGNC	protein_coding	OTTHUMT00000371629.1	-	0.00	75	0	G	NM_001129891		169310673	-1	tier1	-	no_errors	ENST00000377365	ensembl	human	known	74_37	missense	23.61	55	17	SNP	0.919	T
FCRLA	84824	genome.wustl.edu	37	1	161681713	161681713	+	3'UTR	SNP	C	C	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr1:161681713C>T	ENST00000470841.1	+	0	1340				FCRLA_ENST00000367959.2_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367953.3_Intron|FCRLA_ENST00000540926.1_Intron|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000236938.6_Intron|FCRLA_ENST00000350710.3_Intron			Q7L513	FCRLA_HUMAN	Fc receptor-like A						cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TCCTGCCTATCTTTTTCCCAG	0.502																																																	0													169.0	200.0	189.0					1																	161681713		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0			AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000470841.1:c.*1337C>T	1.37:g.161681713C>T			A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	RNA	SNP	-	NULL	ENST00000470841.1	37	NULL		1																																																																																			FCRLA	-	-	ENSG00000132185		0.502	FCRLA-009	KNOWN	basic	processed_transcript	FCRLA	HGNC	protein_coding	OTTHUMT00000083582.1	-	0.00	59	0	C	NM_032738		161681713	+1	tier1	-	no_errors	ENST00000470841	ensembl	human	known	74_37	rna	27.69	47	18	SNP	0.000	T
FRYL	285527	genome.wustl.edu	37	4	48559130	48559130	+	Silent	SNP	G	G	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr4:48559130G>T	ENST00000503238.1	-	32	4130	c.4131C>A	c.(4129-4131)ggC>ggA	p.G1377G	FRYL_ENST00000507711.1_Silent_p.G1377G|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Silent_p.G1377G|FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Silent_p.G1377G			O94915	FRYL_HUMAN	FRY-like	1377					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CCAGTTCATCGCCATACTAGA	0.383																																																	0													69.0	63.0	65.0					4																	48559130		1945	4142	6087	SO:0001819	synonymous_variant	0			AL833170	CCDS43227.1	4p12	2011-08-03	2006-11-17	2005-11-24	ENSG00000075539	ENSG00000075539			29127	protein-coding gene	gene with protein product			"""KIAA0826"", ""furry homolog-like (Drosophila)"""	KIAA0826		10048485	Standard	NM_015030		Approved	DKFZp686E205	uc003gyh.1	O94915	OTTHUMG00000160608	ENST00000503238.1:c.4131C>A	4.37:g.48559130G>T			O95640|Q8WTZ5|Q9NT40	Silent	SNP	superfamily_ARM-type_fold	p.G1377	ENST00000503238.1	37	c.4131	CCDS43227.1	4																																																																																			FRYL	-	superfamily_ARM-type_fold	ENSG00000075539		0.383	FRYL-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FRYL	HGNC	protein_coding	OTTHUMT00000369265.2	-	0.00	43	0	G			48559130	-1	tier1	-	no_errors	ENST00000358350	ensembl	human	known	74_37	silent	10.00	45	5	SNP	0.435	T
PSMC5	5705	genome.wustl.edu	37	17	61903427	61903427	+	5'Flank	DEL	G	G	-			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr17:61903427delG	ENST00000310144.6	+	0	0				PSMC5_ENST00000375812.4_5'Flank|FTSJ3_ENST00000427159.2_Frame_Shift_Del_p.R97fs|PSMC5_ENST00000581882.1_5'Flank|PSMC5_ENST00000580864.1_5'Flank|FTSJ3_ENST00000580295.1_5'Flank	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TGCCTACAACGTTCTGTTGTG	0.458																																																	0													147.0	145.0	145.0					17																	61903427		2203	4300	6503	SO:0001631	upstream_gene_variant	0			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195			17.37:g.61903427delG	Exception_encountered		A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Frame_Shift_Del	DEL	pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381	p.R97fs	ENST00000310144.6	37	c.289	CCDS11645.1	17																																																																																			FTSJ3	-	pfam_rRNA_MeTrfase_FtsJ_dom	ENSG00000108592		0.458	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ3	HGNC	protein_coding	OTTHUMT00000444404.1		0.00	53	0	G	NM_002805		61903427	-1	tier1		no_errors	ENST00000427159	ensembl	human	known	74_37	frame_shift_del	17.14	29	6	DEL	1.000	-
GAS6	2621	genome.wustl.edu	37	13	114541097	114541097	+	Silent	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr13:114541097G>A	ENST00000327773.6	-	6	680	c.534C>T	c.(532-534)ttC>ttT	p.F178F	GAS6_ENST00000355761.4_Silent_p.F124F|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000357389.3_Silent_p.F178F|GAS6_ENST00000450766.1_5'Flank	NM_000820.2	NP_000811.1	Q14393	GAS6_HUMAN	growth arrest-specific 6	178	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of protein kinase B activity (GO:0032148)|apoptotic cell clearance (GO:0043277)|B cell chemotaxis (GO:0035754)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to interferon-alpha (GO:0035457)|cellular response to starvation (GO:0009267)|cellular response to vitamin K (GO:0071307)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|extracellular matrix assembly (GO:0085029)|fusion of virus membrane with host plasma membrane (GO:0019064)|hematopoietic stem cell migration to bone marrow (GO:0097241)|leukocyte migration (GO:0050900)|macrophage cytokine production (GO:0010934)|negative regulation of apoptotic process (GO:0043066)|negative regulation of biomineral tissue development (GO:0070168)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-6 secretion (GO:1900165)|negative regulation of oligodendrocyte apoptotic process (GO:1900142)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of renal albumin absorption (GO:2000533)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|peptidyl-serine phosphorylation (GO:0018105)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of gene expression (GO:0010628)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phagocytosis (GO:0050766)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of TOR signaling (GO:0032008)|post-translational protein modification (GO:0043687)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|protein targeting to plasma membrane (GO:0072661)|proteolysis (GO:0006508)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|viral entry into host cell (GO:0046718)|viral genome replication (GO:0019079)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|platelet alpha granule lumen (GO:0031093)	binding, bridging (GO:0060090)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|phosphatidylserine binding (GO:0001786)|protein tyrosine kinase activator activity (GO:0030296)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|voltage-gated calcium channel activity (GO:0005245)			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				AGGAACAGTGGAAGCTACCCG	0.622																																																	0													104.0	96.0	99.0					13																	114541097		2203	4298	6501	SO:0001819	synonymous_variant	0				CCDS45072.1	13q34	2008-07-18			ENSG00000183087	ENSG00000183087			4168	protein-coding gene	gene with protein product	"""AXL stimulatory factor"""	600441		AXLLG		8336730	Standard	NM_000820		Approved	AXSF, FLJ34709, DKFZp666G247	uc001vud.3	Q14393	OTTHUMG00000017395	ENST00000327773.6:c.534C>T	13.37:g.114541097G>A			B3KRQ7|B3KVL4|E9PBL7|Q6IMN1|Q7Z7N3	Silent	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.F178	ENST00000327773.6	37	c.534	CCDS45072.1	13																																																																																			GAS6	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000183087		0.622	GAS6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAS6	HGNC	protein_coding	OTTHUMT00000045946.2	-	0.00	168	0	G	NM_000820		114541097	-1	tier1	-	no_errors	ENST00000357389	ensembl	human	known	74_37	silent	29.17	84	35	SNP	0.945	A
GNAQ	2776	genome.wustl.edu	37	9	80646047	80646047	+	Silent	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr9:80646047G>A	ENST00000286548.4	-	1	327	c.105C>T	c.(103-105)gaC>gaT	p.D35D		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	35					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CCCGGCGGGCGTCCCGCTTGT	0.716			Mis		uveal melanoma																																			Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	0													10.0	11.0	11.0					9																	80646047		2164	4251	6415	SO:0001819	synonymous_variant	0				CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.105C>T	9.37:g.80646047G>A			O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Silent	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha	p.D35	ENST00000286548.4	37	c.105	CCDS6658.1	9																																																																																			GNAQ	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su	ENSG00000156052		0.716	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNAQ	HGNC	protein_coding	OTTHUMT00000052761.1		0.00	34	0	G	NM_002072		80646047	-1			no_errors	ENST00000286548	ensembl	human	known	74_37	silent	9.38	29	3	SNP	1.000	A
GRM6	2916	genome.wustl.edu	37	5	178408747	178408747	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:178408747G>T	ENST00000517717.1	-	11	2583	c.2545C>A	c.(2545-2547)Cag>Aag	p.Q849K	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.Q849K			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	849					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGCACATTCTGCTCTGGATGG	0.607																																																	0													147.0	139.0	142.0					5																	178408747		2203	4300	6503	SO:0001583	missense	0			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2545C>A	5.37:g.178408747G>T	ENSP00000430767:p.Gln849Lys			Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.Q849K	ENST00000517717.1	37	c.2545	CCDS4442.1	5	.	.	.	.	.	.	.	.	.	.	G	9.039	0.989153	0.18966	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.87029	-2.2;-2.2	5.47	5.47	0.80525	GPCR, family 3, C-terminal (1);	.	.	.	.	T	0.77731	0.4174	N	0.19112	0.55	0.44976	D	0.997992	B;B	0.17852	0.007;0.024	B;B	0.16722	0.007;0.016	T	0.71563	-0.4555	9	0.07030	T	0.85	.	17.1931	0.86886	0.0:0.0:1.0:0.0	.	849;143	O15303;Q5HYM4	GRM6_HUMAN;.	K	849	ENSP00000231188:Q849K;ENSP00000430767:Q849K	ENSP00000231188:Q849K	Q	-	1	0	GRM6	178341353	1.000000	0.71417	1.000000	0.80357	0.328000	0.28507	5.453000	0.66645	2.745000	0.94114	0.462000	0.41574	CAG	GRM6	-	pfscan_GPCR_3_C	ENSG00000113262		0.607	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	-	0.00	75	0	G			178408747	-1	tier1	-	no_errors	ENST00000231188	ensembl	human	known	74_37	missense	12.68	62	9	SNP	1.000	T
GTF2A2	2958	genome.wustl.edu	37	15	59934415	59934415	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr15:59934415A>T	ENST00000396060.2	-	4	405	c.224T>A	c.(223-225)gTa>gAa	p.V75E	GTF2A2_ENST00000396064.3_Intron|GTF2A2_ENST00000396063.1_Missense_Mutation_p.V75E|GTF2A2_ENST00000484743.1_Missense_Mutation_p.V40E|AC092755.4_ENST00000441746.1_RNA|GTF2A2_ENST00000267869.4_5'UTR|GTF2A2_ENST00000396061.1_Missense_Mutation_p.V75E	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	75					gene expression (GO:0010467)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cell junction (GO:0030054)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			central_nervous_system(2)|kidney(2)|lung(1)	5						ATCATTCAGTACAAAAGTCCA	0.348																																																	0													148.0	142.0	144.0					15																	59934415		2190	4289	6479	SO:0001583	missense	0			BC001919	CCDS10173.1	15q21.3	2010-03-23	2002-08-29		ENSG00000140307	ENSG00000140307		"""General transcription factors"""	4647	protein-coding gene	gene with protein product		600519	"""general transcription factor IIA, 2 (12kD subunit)"""			7958899	Standard	NM_004492		Approved	TFIIA, HsT18745	uc002agg.3	P52657	OTTHUMG00000132725	ENST00000396060.2:c.224T>A	15.37:g.59934415A>T	ENSP00000379372:p.Val75Glu		A8MYQ7|Q6FGB5	Missense_Mutation	SNP	pfam_TFIIA_gsu_C,pfam_TFIIA_gsu_N,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pirsf_TFIIA_gsu	p.V75E	ENST00000396060.2	37	c.224	CCDS10173.1	15	.	.	.	.	.	.	.	.	.	.	A	24.8	4.566372	0.86439	.	.	ENSG00000140307	ENST00000396060;ENST00000396063;ENST00000396061;ENST00000484743	.	.	.	5.48	5.48	0.80851	Transcription initiation factor IIA, gamma subunit, C-terminal (1);Transcription factor IIA, beta-barrel (2);	0.000000	0.85682	D	0.000000	T	0.62441	0.2428	L	0.52126	1.63	0.80722	D	1	B	0.29270	0.24	B	0.35727	0.209	T	0.64871	-0.6305	9	0.87932	D	0	-19.1341	15.8656	0.79063	1.0:0.0:0.0:0.0	.	75	P52657	T2AG_HUMAN	E	75;75;75;40	.	ENSP00000379372:V75E	V	-	2	0	GTF2A2	57721707	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.919000	0.92770	2.216000	0.71823	0.397000	0.26171	GTA	GTF2A2	-	pfam_TFIIA_gsu_C,superfamily_TFIIA_b-brl,pirsf_TFIIA_gsu	ENSG00000140307		0.348	GTF2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2A2	HGNC	protein_coding	OTTHUMT00000256067.2	-	0.00	58	0	A	NM_004492		59934415	-1	tier1	-	no_errors	ENST00000396060	ensembl	human	known	74_37	missense	6.06	62	4	SNP	1.000	T
HAUS5	23354	genome.wustl.edu	37	19	36111189	36111189	+	Silent	SNP	C	C	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr19:36111189C>A	ENST00000203166.5	+	17	1636	c.1611C>A	c.(1609-1611)ctC>ctA	p.L537L	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	537					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GGGATCTACTCCACATGAAGA	0.677																																																	0													16.0	19.0	18.0					19																	36111189		2031	4169	6200	SO:0001819	synonymous_variant	0			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.1611C>A	19.37:g.36111189C>A			B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Silent	SNP	NULL	p.L537	ENST00000203166.5	37	c.1611	CCDS42550.1	19																																																																																			HAUS5	-	NULL	ENSG00000249115		0.677	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	HGNC	protein_coding	OTTHUMT00000459055.2	-	0.00	78	0	C			36111189	+1	tier1	-	no_errors	ENST00000203166	ensembl	human	known	74_37	silent	39.29	34	22	SNP	0.006	A
HBS1L	10767	genome.wustl.edu	37	6	135357717	135357717	+	Intron	SNP	T	T	C			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr6:135357717T>C	ENST00000367837.5	-	4	637				HBS1L_ENST00000367824.4_Intron|HBS1L_ENST00000415177.2_Intron|HBS1L_ENST00000367822.5_Silent_p.K626K|HBS1L_ENST00000314674.3_Intron|HBS1L_ENST00000367826.2_Intron|HBS1L_ENST00000445176.2_Intron	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase						signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TAAATGCTTTTTTTTGATTAG	0.299																																																	0													33.0	25.0	27.0					6																	135357717		692	1591	2283	SO:0001627	intron_variant	0			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.430+2993A>G	6.37:g.135357717T>C			B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Silent	SNP	pfam_HBS1-like_N	p.K626	ENST00000367837.5	37	c.1878	CCDS5173.1	6																																																																																			HBS1L	-	NULL	ENSG00000112339		0.299	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	HGNC	protein_coding	OTTHUMT00000042339.2		0.00	14	0	T			135357717	-1			no_errors	ENST00000367822	ensembl	human	known	74_37	silent	66.67	2	4	SNP	1.000	C
HNF4G	3174	genome.wustl.edu	37	8	76471212	76471212	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr8:76471212T>C	ENST00000354370.1	+	9	1192	c.922T>C	c.(922-924)Ttt>Ctt	p.F308L	HNF4G_ENST00000396423.2_Missense_Mutation_p.F345L			Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	308					endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GCAAATACAGTTTGTTAAACT	0.408																																																	0													88.0	88.0	88.0					8																	76471212		2203	4300	6503	SO:0001583	missense	0				CCDS6220.2	8q21-q22	2013-01-16			ENSG00000164749	ENSG00000164749		"""Nuclear hormone receptors"""	5026	protein-coding gene	gene with protein product		605966				8622695, 12220494	Standard	NM_004133		Approved	NR2A2	uc003yar.3	Q14541	OTTHUMG00000149920	ENST00000354370.1:c.922T>C	8.37:g.76471212T>C	ENSP00000346339:p.Phe308Leu		Q7Z2V9|Q9UH81|Q9UIS6	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4	p.F345L	ENST00000354370.1	37	c.1033		8	.	.	.	.	.	.	.	.	.	.	T	15.27	2.783868	0.49891	.	.	ENSG00000164749	ENST00000354370;ENST00000396423	D;D	0.95447	-3.71;-3.71	5.52	4.37	0.52481	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.092607	0.85682	D	0.000000	D	0.93520	0.7932	M	0.70787	2.145	0.46798	D	0.999207	B;B	0.09022	0.001;0.002	B;B	0.12837	0.008;0.008	D	0.90962	0.4813	10	0.44086	T	0.13	.	9.839	0.40987	0.0:0.1359:0.0:0.8641	.	345;308	F1D8Q4;Q14541	.;HNF4G_HUMAN	L	308;345	ENSP00000346339:F308L;ENSP00000379701:F345L	ENSP00000346339:F308L	F	+	1	0	HNF4G	76633767	1.000000	0.71417	0.897000	0.35233	0.957000	0.61999	3.482000	0.53186	2.093000	0.63338	0.533000	0.62120	TTT	HNF4G	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000164749		0.408	HNF4G-002	KNOWN	basic|appris_candidate	protein_coding	HNF4G	HGNC	protein_coding	OTTHUMT00000313914.2	-	0.00	47	0	T	NM_004133		76471212	+1	tier1	-	no_errors	ENST00000396423	ensembl	human	known	74_37	missense	20.00	24	6	SNP	1.000	C
HSPA14	51182	genome.wustl.edu	37	10	14884177	14884177	+	Intron	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr10:14884177G>A	ENST00000378372.3	+	3	460				HSPA14_ENST00000493863.1_3'UTR|HSPA14_ENST00000437161.2_Intron	NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14						'de novo' cotranslational protein folding (GO:0051083)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AATTATCCCTGAGAGGGAAGA	0.522																																																	0																																										SO:0001627	intron_variant	0			AF112210	CCDS7103.1, CCDS60487.1	10p13	2011-09-02			ENSG00000187522	ENSG00000187522		"""Heat shock proteins / HSP70"""	29526	protein-coding gene	gene with protein product		610369				12477932	Standard	NM_016299		Approved	HSP70-4, HSP70L1	uc001ind.4	Q0VDF9	OTTHUMG00000017712	ENST00000378372.3:c.221+2021G>A	10.37:g.14884177G>A			A8K8F8|B0YIY9|Q9P0X2|Q9UI07	RNA	SNP	-	NULL	ENST00000378372.3	37	NULL	CCDS7103.1	10																																																																																			HSPA14	-	-	ENSG00000187522		0.522	HSPA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA14	HGNC	protein_coding	OTTHUMT00000046910.1	-	0.00	15	0	G	NM_016299		14884177	+1	tier1	-	no_errors	ENST00000493178	ensembl	human	known	74_37	rna	60.00	4	6	SNP	1.000	A
HSPG2	3339	genome.wustl.edu	37	1	22169271	22169271	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr1:22169271G>C	ENST00000374695.3	-	67	8981	c.8902C>G	c.(8902-8904)Cgg>Ggg	p.R2968G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2968	Ig-like C2-type 15.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	ACCTGGTGCCGGGCGGGGAGG	0.622																																																	0													36.0	41.0	39.0					1																	22169271		2202	4300	6502	SO:0001583	missense	0			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8902C>G	1.37:g.22169271G>C	ENSP00000363827:p.Arg2968Gly		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt	p.R2968G	ENST00000374695.3	37	c.8902	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.200052	0.38905	.	.	ENSG00000142798	ENST00000374695	T	0.11385	2.78	4.92	3.91	0.45181	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.230767	0.21525	N	0.073154	T	0.14141	0.0342	L	0.46567	1.45	0.80722	D	1	B;B	0.31519	0.263;0.327	B;B	0.40329	0.326;0.268	T	0.05037	-1.0910	10	0.40728	T	0.16	.	11.3085	0.49349	0.0:0.0:0.7345:0.2655	.	908;2968	Q59EG0;P98160	.;PGBM_HUMAN	G	2968	ENSP00000363827:R2968G	ENSP00000363827:R2968G	R	-	1	2	HSPG2	22041858	0.041000	0.20044	0.994000	0.49952	0.993000	0.82548	1.279000	0.33191	2.268000	0.75426	0.462000	0.41574	CGG	HSPG2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000142798		0.622	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	-	0.00	102	0	G	NM_005529		22169271	-1	tier1	-	no_errors	ENST00000374695	ensembl	human	known	74_37	missense	18.18	81	18	SNP	0.994	C
HTATIP2	10553	genome.wustl.edu	37	11	20385843	20385843	+	Silent	SNP	C	C	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr11:20385843C>T	ENST00000451739.2	+	1	501	c.60C>T	c.(58-60)tcC>tcT	p.S20S	HTATIP2_ENST00000530266.1_Silent_p.S20S|HTATIP2_ENST00000419348.2_Silent_p.S54S|HTATIP2_ENST00000531058.1_Silent_p.S20S|HTATIP2_ENST00000532505.1_Silent_p.S20S|HTATIP2_ENST00000443524.2_Silent_p.S20S|HTATIP2_ENST00000421577.2_Silent_p.S20S|HTATIP2_ENST00000532081.1_Silent_p.S20S	NM_001098522.1	NP_001091992.1			HIV-1 Tat interactive protein 2, 30kDa											large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						AGAATAAATCCGTCTTTATTT	0.527																																																	0													86.0	93.0	91.0					11																	20385843		2203	4300	6503	SO:0001819	synonymous_variant	0			AF039103	CCDS7852.1, CCDS44553.1, CCDS53613.1	11p15.1	2011-09-14	2002-08-29		ENSG00000109854	ENSG00000109854	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	16637	protein-coding gene	gene with protein product	"""Tat-interacting protein (30kD)"", ""short chain dehydrogenase/reductase family 44U, member 1"""	605628	"""HIV-1 Tat interactive protein 2, 30 kDa"""			9482853, 9174052, 19027726	Standard	NM_006410		Approved	TIP30, CC3, FLJ26963, SDR44U1	uc001mpx.2	Q9BUP3	OTTHUMG00000166015	ENST00000451739.2:c.60C>T	11.37:g.20385843C>T				Silent	SNP	pfam_Semialdehyde_DH_NAD-bd	p.S54	ENST00000451739.2	37	c.162	CCDS7852.1	11																																																																																			HTATIP2	-	NULL	ENSG00000109854		0.527	HTATIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATIP2	HGNC	protein_coding	OTTHUMT00000387445.2	-	0.00	27	0	C	NM_001098521		20385843	+1	tier1	-	no_errors	ENST00000419348	ensembl	human	known	74_37	silent	21.88	25	7	SNP	0.407	T
IL3	3562	genome.wustl.edu	37	5	131398418	131398418	+	Silent	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:131398418G>A	ENST00000296870.2	+	5	571	c.393G>A	c.(391-393)acG>acA	p.T131T		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3	131					cell-cell signaling (GO:0007267)|embryonic hemopoiesis (GO:0035162)|immune response (GO:0006955)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-3 receptor binding (GO:0005135)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	GGAAACTGACGTTCTATCTGA	0.493											OREG0016762	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													118.0	118.0	118.0					5																	131398418		2203	4300	6503	SO:0001819	synonymous_variant	0			M14743	CCDS4149.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000164399	ENSG00000164399		"""Interleukins and interleukin receptors"""	6011	protein-coding gene	gene with protein product	"""multilineage-colony-stimulating factor"", ""hematopoietic growth factor"", ""P-cell stimulating factor"", ""mast-cell growth factor"", ""colony-stimulating factor, multiple"""	147740	"""interleukin 3 (colony-stimulating factor, multiple)"""			3489530	Standard	NM_000588		Approved	IL-3, MULTI-CSF, MCGF, MGC79398, MGC79399	uc003kwe.1	P08700	OTTHUMG00000059640	ENST00000296870.2:c.393G>A	5.37:g.131398418G>A		1587	Q6GS87	Silent	SNP	pfam_IL-3,superfamily_4_helix_cytokine-like_core,pirsf_IL-3,prints_IL-3	p.T131	ENST00000296870.2	37	c.393	CCDS4149.1	5																																																																																			IL3	-	pfam_IL-3,superfamily_4_helix_cytokine-like_core,pirsf_IL-3,prints_IL-3	ENSG00000164399		0.493	IL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL3	HGNC	protein_coding	OTTHUMT00000132639.1	-	0.00	42	0	G	NM_000588		131398418	+1	tier1	-	no_errors	ENST00000296870	ensembl	human	known	74_37	silent	17.39	38	8	SNP	0.000	A
KCNA7	3743	genome.wustl.edu	37	19	49574060	49574060	+	Missense_Mutation	SNP	C	C	T	rs531366512		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr19:49574060C>T	ENST00000221444.1	-	2	986	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	211					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.V211M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	GTCTCCACCACGAAGAACGGG	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		20216	0.0		0.0	False		,,,				2504	0.001				Colon(74;686 1235 3793 23366 48562)												1	Substitution - Missense(1)	endometrium(1)											117.0	83.0	94.0					19																	49574060		2203	4300	6503	SO:0001583	missense	0			AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.631G>A	19.37:g.49574060C>T	ENSP00000221444:p.Val211Met		A1KYX7|Q9BYS4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1	p.V211M	ENST00000221444.1	37	c.631	CCDS12755.1	19	.	.	.	.	.	.	.	.	.	.	C	5.637	0.302142	0.10678	.	.	ENSG00000104848	ENST00000221444	D	0.97791	-4.54	4.49	-1.09	0.09904	.	0.733621	0.13026	N	0.419703	D	0.91991	0.7463	L	0.35542	1.07	0.25912	N	0.983221	P	0.44260	0.83	B	0.38500	0.275	D	0.87069	0.2158	10	0.27082	T	0.32	.	1.4018	0.02272	0.1389:0.3473:0.2734:0.2404	.	211	Q96RP8	KCNA7_HUMAN	M	211	ENSP00000221444:V211M	ENSP00000221444:V211M	V	-	1	0	KCNA7	54265872	0.005000	0.15991	0.981000	0.43875	0.122000	0.20287	-0.204000	0.09425	0.066000	0.16515	0.313000	0.20887	GTG	KCNA7	-	prints_K_chnl	ENSG00000104848		0.547	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA7	HGNC	protein_coding	OTTHUMT00000466263.1	-	0.00	64	0	C	NM_031886		49574060	-1	tier1	-	no_errors	ENST00000221444	ensembl	human	known	74_37	missense	36.11	46	26	SNP	0.976	T
KCNB1	3745	genome.wustl.edu	37	20	48098775	48098775	+	Silent	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr20:48098775G>A	ENST00000371741.4	-	1	409	c.243C>T	c.(241-243)aaC>aaT	p.N81N		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	81					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	AGAAGTACTCGTTGTCGTCGA	0.642																																																	0													43.0	34.0	37.0					20																	48098775		2203	4300	6503	SO:0001819	synonymous_variant	0			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.243C>T	20.37:g.48098775G>A			Q14193	Silent	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.N81	ENST00000371741.4	37	c.243	CCDS13418.1	20																																																																																			KCNB1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv8	ENSG00000158445		0.642	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB1	HGNC	protein_coding	OTTHUMT00000080374.3	-	0.00	29	0	G	NM_004975		48098775	-1	tier1	-	no_errors	ENST00000371741	ensembl	human	known	74_37	silent	50.00	25	25	SNP	1.000	A
KCNJ8	3764	genome.wustl.edu	37	12	21918874	21918874	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:21918874C>T	ENST00000240662.2	-	3	1403	c.1058G>A	c.(1057-1059)tGc>tAc	p.C353Y	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	353					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	TCGGGCACTGCACCGTGGAGC	0.483																																																	0													126.0	124.0	125.0					12																	21918874		2203	4300	6503	SO:0001583	missense	0			BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.1058G>A	12.37:g.21918874C>T	ENSP00000240662:p.Cys353Tyr		O00657	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1	p.C353Y	ENST00000240662.2	37	c.1058	CCDS8692.1	12	.	.	.	.	.	.	.	.	.	.	C	17.98	3.520637	0.64747	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.94184	-3.37	5.55	4.66	0.58398	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.96153	0.8746	M	0.77406	2.37	0.80722	D	1	D	0.69078	0.997	D	0.71870	0.975	D	0.95938	0.8944	10	0.46703	T	0.11	.	14.642	0.68732	0.0:0.9306:0.0:0.0694	.	353	Q15842	IRK8_HUMAN	Y	353	ENSP00000240662:C353Y	ENSP00000240662:C353Y	C	-	2	0	KCNJ8	21810141	1.000000	0.71417	0.986000	0.45419	0.975000	0.68041	7.638000	0.83328	1.581000	0.49865	0.655000	0.94253	TGC	KCNJ8	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.1	ENSG00000121361		0.483	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ8	HGNC	protein_coding	OTTHUMT00000402226.1	-	0.00	62	0	C	NM_004982		21918874	-1	tier1	-	no_errors	ENST00000240662	ensembl	human	known	74_37	missense	55.41	33	41	SNP	1.000	T
KHDRBS1	10657	genome.wustl.edu	37	1	32508884	32508884	+	3'UTR	DEL	A	A	-	rs180680107	byFrequency	TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr1:32508884delA	ENST00000327300.7	+	0	2158				KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TAATTGATATAAAAAAAAAAA	0.294																																					Ovarian(173;401 1982 12359 31110 42403)												0																																										SO:0001624	3_prime_UTR_variant	0			U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.*659A>-	1.37:g.32508884delA				RNA	DEL	-	NULL	ENST00000327300.7	37	NULL	CCDS350.1	1																																																																																			KHDRBS1	-	-	ENSG00000121774		0.294	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS1	HGNC	protein_coding	OTTHUMT00000011199.4		0.00	25	0	A	NM_006559		32508884	+1	tier1		no_errors	ENST00000307714	ensembl	human	known	74_37	rna	10.00	27	3	DEL	0.991	-
KIAA2026	158358	genome.wustl.edu	37	9	5922719	5922719	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr9:5922719G>A	ENST00000399933.3	-	8	3276	c.3277C>T	c.(3277-3279)Cct>Tct	p.P1093S	KIAA2026_ENST00000381461.2_Missense_Mutation_p.P1063S	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	1093										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CCTGTTTTAGGATCCACCATA	0.403																																																	0													128.0	119.0	122.0					9																	5922719		1855	4100	5955	SO:0001583	missense	0			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.3277C>T	9.37:g.5922719G>A	ENSP00000382815:p.Pro1093Ser		A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.P1093S	ENST00000399933.3	37	c.3277		9	.	.	.	.	.	.	.	.	.	.	G	1.593	-0.528664	0.04112	.	.	ENSG00000183354	ENST00000399933;ENST00000381461	.	.	.	5.47	1.47	0.22746	.	0.298355	0.28688	N	0.014470	T	0.15478	0.0373	N	0.19112	0.55	0.21473	N	0.999678	B	0.15473	0.013	B	0.12156	0.007	T	0.19976	-1.0289	9	0.09338	T	0.73	-3.2187	1.7793	0.03028	0.2791:0.1294:0.4586:0.1329	.	1093	Q5HYC2	K2026_HUMAN	S	1093;1063	.	ENSP00000370870:P1063S	P	-	1	0	KIAA2026	5912719	1.000000	0.71417	0.991000	0.47740	0.988000	0.76386	1.671000	0.37513	0.004000	0.14682	0.561000	0.74099	CCT	KIAA2026	-	NULL	ENSG00000183354		0.403	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	-	0.00	50	0	G	NM_001017969		5922719	-1	tier1	-	no_errors	ENST00000399933	ensembl	human	novel	74_37	missense	36.59	26	15	SNP	0.999	A
KRT13	3860	genome.wustl.edu	37	17	39657566	39657566	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr17:39657566G>A	ENST00000246635.3	-	8	1365	c.1319C>T	c.(1318-1320)tCt>tTt	p.S440F	AC019349.5_ENST00000411759.1_RNA|KRT13_ENST00000336861.3_3'UTR|KRT13_ENST00000587118.1_5'Flank	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	440	Tail.				cellular response to retinoic acid (GO:0071300)|cytoskeleton organization (GO:0007010)|response to radiation (GO:0009314)|tongue morphogenesis (GO:0043587)	extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GGTGGTAACAGAGGCACTAGA	0.572																																																	0													71.0	53.0	59.0					17																	39657566		2198	4292	6490	SO:0001583	missense	0				CCDS11396.1, CCDS11397.1	17q21.2	2013-06-20			ENSG00000171401	ENSG00000171401		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6415	protein-coding gene	gene with protein product	"""keratin, type I cytoskeletal 13"", ""cytokeratin 13"""	148065				16831889	Standard	NM_153490		Approved	K13, CK13, MGC3781, MGC161462	uc002hwu.1	P13646	OTTHUMG00000133434	ENST00000246635.3:c.1319C>T	17.37:g.39657566G>A	ENSP00000246635:p.Ser440Phe		Q53G54|Q6AZK5|Q8N240	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_I	p.S440F	ENST00000246635.3	37	c.1319	CCDS11396.1	17	.	.	.	.	.	.	.	.	.	.	G	3.012	-0.203774	0.06180	.	.	ENSG00000171401	ENST00000246635	D	0.83075	-1.68	0.468	-0.935	0.10423	.	2.254000	0.03239	U	0.180167	T	0.60261	0.2255	N	0.08118	0	0.09310	N	1	P	0.38078	0.617	B	0.23574	0.047	T	0.55630	-0.8111	9	0.36615	T	0.2	.	.	.	.	.	440	P13646	K1C13_HUMAN	F	440	ENSP00000246635:S440F	ENSP00000246635:S440F	S	-	2	0	KRT13	36911092	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.558000	0.23469	-0.489000	0.06716	-0.500000	0.04577	TCT	KRT13	-	NULL	ENSG00000171401		0.572	KRT13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRT13	HGNC	protein_coding	OTTHUMT00000257297.1	-	0.00	62	0	G	NM_153490		39657566	-1	tier1	-	no_errors	ENST00000246635	ensembl	human	known	74_37	missense	8.51	43	4	SNP	0.000	A
KRTAP13-2	337959	genome.wustl.edu	37	21	31744251	31744251	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr21:31744251G>A	ENST00000399889.2	-	1	306	c.281C>T	c.(280-282)aCg>aTg	p.T94M		NM_181621.3	NP_853652.1	Q52LG2	KR132_HUMAN	keratin associated protein 13-2	94	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)		p.T94M(1)		endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						AGAGTAAGTCGTCTTGCAAGG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											62.0	61.0	62.0					21																	31744251		2203	4300	6503	SO:0001583	missense	0			AP001708	CCDS13589.1	21q22.1	2011-02-10			ENSG00000182816	ENSG00000182816		"""Keratin associated proteins"""	18923	protein-coding gene	gene with protein product						12359730	Standard	NM_181621		Approved	KAP13-2	uc002ynz.4	Q52LG2	OTTHUMG00000057793	ENST00000399889.2:c.281C>T	21.37:g.31744251G>A	ENSP00000382777:p.Thr94Met			Missense_Mutation	SNP	pfam_KRTAP_PMG	p.T94M	ENST00000399889.2	37	c.281	CCDS13589.1	21	.	.	.	.	.	.	.	.	.	.	G	14.33	2.504543	0.44558	.	.	ENSG00000182816	ENST00000399889	T	0.03663	3.85	4.57	-5.79	0.02354	.	0.716625	0.11867	N	0.521762	T	0.04363	0.0120	M	0.64997	1.995	0.09310	N	1	D	0.56035	0.974	P	0.46237	0.508	T	0.02966	-1.1088	10	0.59425	D	0.04	.	1.8824	0.03231	0.3431:0.3485:0.1882:0.1202	.	94	Q52LG2	KR132_HUMAN	M	94	ENSP00000382777:T94M	ENSP00000382777:T94M	T	-	2	0	KRTAP13-2	30666122	0.000000	0.05858	0.000000	0.03702	0.908000	0.53690	-0.412000	0.07132	-1.134000	0.02899	0.655000	0.94253	ACG	KRTAP13-2	-	pfam_KRTAP_PMG	ENSG00000182816		0.617	KRTAP13-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-2	HGNC	protein_coding	OTTHUMT00000128245.1	-	0.00	101	0	G			31744251	-1	tier1	-	no_errors	ENST00000399889	ensembl	human	known	74_37	missense	32.10	55	26	SNP	0.000	A
LIMCH1	22998	genome.wustl.edu	37	4	41621228	41621228	+	Missense_Mutation	SNP	G	G	A	rs143218091		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr4:41621228G>A	ENST00000313860.7	+	8	760	c.706G>A	c.(706-708)Gac>Aac	p.D236N	LIMCH1_ENST00000512946.1_Missense_Mutation_p.D236N|LIMCH1_ENST00000512632.1_Missense_Mutation_p.D236N|LIMCH1_ENST00000508501.1_Missense_Mutation_p.D236N|LIMCH1_ENST00000512820.1_Missense_Mutation_p.D236N|LIMCH1_ENST00000396595.3_Missense_Mutation_p.D82N|LIMCH1_ENST00000509454.1_Missense_Mutation_p.D84N|LIMCH1_ENST00000503057.1_Missense_Mutation_p.D77N|LIMCH1_ENST00000509638.1_Missense_Mutation_p.D77N|LIMCH1_ENST00000514096.1_Missense_Mutation_p.D89N|LIMCH1_ENST00000511496.1_Missense_Mutation_p.D77N|LIMCH1_ENST00000513024.1_Missense_Mutation_p.D77N|LIMCH1_ENST00000509277.1_Missense_Mutation_p.D82N|LIMCH1_ENST00000381753.4_Missense_Mutation_p.D82N	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	236					actomyosin structure organization (GO:0031032)		zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CTCTGAATCCGACTTGCCTCA	0.502																																																	0								G	ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP,ASN/ASP	0,4406		0,0,2203	233.0	239.0	237.0		706,706,244,244,706	5.7	1.0	4	dbSNP_134	237	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	LIMCH1	NM_001112717.1,NM_001112718.1,NM_001112719.1,NM_001112720.1,NM_014988.2	23,23,23,23,23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	236/1058,236/1057,82/903,82/891,236/1084	41621228	1,13005	2203	4300	6503	SO:0001583	missense	0			AB029025	CCDS33977.1, CCDS47047.1, CCDS54763.1, CCDS54764.1, CCDS54765.1, CCDS75119.1, CCDS75121.1	4p13	2007-06-14		2008-01-09	ENSG00000064042	ENSG00000064042			29191	protein-coding gene	gene with protein product						10470851	Standard	XM_005248057		Approved	DKFZP686A01247, LIMCH1A, LMO7B	uc003gvz.4	Q9UPQ0	OTTHUMG00000160575	ENST00000313860.7:c.706G>A	4.37:g.41621228G>A	ENSP00000316891:p.Asp236Asn		A8MXC3|E9PHM7|Q503B5|Q5CZB1|Q5CZB6|Q5H9S8|Q68E07|Q6PJ44|Q7Z3G5|Q8N3S9|Q8N6M2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.D77N	ENST00000313860.7	37	c.229	CCDS33977.1	4	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261420	0.80358	0.0	1.16E-4	ENSG00000064042	ENST00000513024;ENST00000509638;ENST00000508501;ENST00000512946;ENST00000313860;ENST00000512632;ENST00000512820;ENST00000446625;ENST00000503057;ENST00000511496;ENST00000313875;ENST00000514096;ENST00000509277;ENST00000509454;ENST00000396595;ENST00000381753	T;T;T;T;T;T;T;T;T;T;T;T	0.65916	-0.09;0.49;0.48;0.49;-0.05;0.63;-0.06;-0.18;-0.1;-0.1;-0.18;-0.09	5.69	5.69	0.88448	.	0.043958	0.85682	D	0.000000	T	0.78773	0.4336	M	0.62723	1.935	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.991;0.999;0.998;0.998;0.998;1.0;0.999;0.998;0.995;0.998;0.991	T	0.79614	-0.1730	10	0.87932	D	0	-21.6896	19.8155	0.96566	0.0:0.0:1.0:0.0	.	82;236;82;82;84;77;77;236;236;236;236	E9PDJ9;D6RD46;Q9UPQ0-9;Q9UPQ0-6;Q6NVB9;G5EA03;Q9UPQ0-5;Q9UPQ0-4;E9PHM7;Q9UPQ0-2;Q9UPQ0	.;.;.;.;.;.;.;.;.;.;LIMC1_HUMAN	N	77;77;236;236;236;236;236;77;77;77;76;89;82;84;82;82	ENSP00000425222:D77N;ENSP00000424825:D236N;ENSP00000424645:D236N;ENSP00000316891:D236N;ENSP00000427045:D236N;ENSP00000424437:D236N;ENSP00000425631:D77N;ENSP00000421242:D77N;ENSP00000426334:D89N;ENSP00000422864:D82N;ENSP00000379840:D82N;ENSP00000371172:D82N	ENSP00000316891:D236N	D	+	1	0	LIMCH1	41315985	1.000000	0.71417	0.983000	0.44433	0.079000	0.17450	9.476000	0.97823	2.691000	0.91804	0.563000	0.77884	GAC	LIMCH1	-	NULL	ENSG00000064042		0.502	LIMCH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LIMCH1	HGNC	protein_coding	OTTHUMT00000361249.2		0.00	47	0	G	NM_014988		41621228	+1			no_errors	ENST00000503057	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	A
LMOD3	56203	genome.wustl.edu	37	3	69171403	69171403	+	Missense_Mutation	SNP	G	G	T	rs138906041	byFrequency	TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr3:69171403G>T	ENST00000420581.2	-	1	314	c.135C>A	c.(133-135)gaC>gaA	p.D45E	LMOD3_ENST00000475434.1_Missense_Mutation_p.D45E|LMOD3_ENST00000489031.1_Missense_Mutation_p.D45E	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	45						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GAAGGCTGGGGTCAGGGGCCA	0.428																																																	0													74.0	71.0	72.0					3																	69171403		1875	4109	5984	SO:0001583	missense	0			AK096900	CCDS46862.1	3p14.1	2003-03-07			ENSG00000163380	ENSG00000163380			6649	protein-coding gene	gene with protein product							Standard	NM_198271		Approved		uc003dns.2	Q0VAK6	OTTHUMG00000158774	ENST00000420581.2:c.135C>A	3.37:g.69171403G>T	ENSP00000414670:p.Asp45Glu		B4DT85|Q0JTT2|Q5JPG6|Q8IUK4|Q96LS4	Missense_Mutation	SNP	pfam_Tropomodulin	p.D45E	ENST00000420581.2	37	c.135	CCDS46862.1	3	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765374	0.69878	.	.	ENSG00000163380	ENST00000420581;ENST00000489031;ENST00000475434	T;T;T	0.27256	1.68;1.68;1.68	5.32	2.08	0.27032	.	0.043780	0.85682	D	0.000000	T	0.37732	0.1014	L	0.47716	1.5	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	T	0.03898	-1.0994	10	0.36615	T	0.2	-38.2795	8.5742	0.33587	0.3399:0.0:0.6601:0.0	.	45	Q0VAK6	LMOD3_HUMAN	E	45	ENSP00000414670:D45E;ENSP00000417210:D45E;ENSP00000418645:D45E	ENSP00000414670:D45E	D	-	3	2	LMOD3	69254093	0.991000	0.36638	1.000000	0.80357	0.990000	0.78478	0.307000	0.19296	0.554000	0.29061	-0.191000	0.12829	GAC	LMOD3	-	pfam_Tropomodulin	ENSG00000163380		0.428	LMOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMOD3	HGNC	protein_coding	OTTHUMT00000352138.1		0.00	72	0	G	XM_067529		69171403	-1			no_errors	ENST00000420581	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
LOC100190940	100190940	genome.wustl.edu	37	12	130521279	130521280	+	lincRNA	INS	-	-	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:130521279_130521280insA	ENST00000567788.1	-	0	1421_1422				RP11-474D1.4_ENST00000561864.1_lincRNA																							aagaaaaCGATAAAAAAAGAAA	0.426																																																	0																																												0																															12.37:g.130521286_130521286dupA				RNA	INS	-	NULL	ENST00000567788.1	37	NULL		12																																																																																			RP11-474D1.3	-	-	ENSG00000214039		0.426	RP11-474D1.3-001	KNOWN	basic	lincRNA	LOC100190940	Clone_based_vega_gene	lincRNA	OTTHUMT00000399498.1		0.00	26	0	-			130521280	-1	tier1		no_errors	ENST00000291374	ensembl	human	known	74_37	rna	30.43	16	7	INS	0.436:0.532	A
LOC101928303	101928303	genome.wustl.edu	37	1	26551855	26551855	+	RNA	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr1:26551855G>A	ENST00000451482.1	+	0	45																											CAGCTGCGCCGTCTTCACGGA	0.706																																																	0																																												0																															1.37:g.26551855G>A				RNA	SNP	-	NULL	ENST00000451482.1	37	NULL		1																																																																																			RP11-231P20.2	-	-	ENSG00000236155		0.706	RP11-231P20.2-002	KNOWN	basic	processed_transcript	LOC101928303	Clone_based_vega_gene	pseudogene	OTTHUMT00000009505.1	-	0.00	12	0	G			26551855	+1	tier1	-	no_errors	ENST00000451482	ensembl	human	known	74_37	rna	53.85	6	7	SNP	0.000	A
PDE6B	5158	genome.wustl.edu	37	4	647448	647448	+	Intron	SNP	C	C	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr4:647448C>T	ENST00000496514.1	+	4	732				PDE6B_ENST00000429163.2_Intron|RP11-1191J2.2_ENST00000598370.1_RNA|RP11-1191J2.2_ENST00000489312.1_RNA|RP11-1191J2.2_ENST00000599030.1_RNA|RP11-1191J2.2_ENST00000468356.1_RNA|PDE6B_ENST00000255622.6_Intron			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta						cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	AGCCAGCTCCCGGGCCCCACA	0.632																																					GBM(71;463 1194 9848 25922 46834)												0																																										SO:0001627	intron_variant	0			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.712-193C>T	4.37:g.647448C>T			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	RNA	SNP	-	NULL	ENST00000496514.1	37	NULL	CCDS33932.1	4																																																																																			RP11-1191J2.2	-	-	ENSG00000242686		0.632	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC101928521	Clone_based_vega_gene	protein_coding	OTTHUMT00000358109.1	-	0.00	38	0	C	NM_000283		647448	-1	tier1	-	no_errors	ENST00000468356	ensembl	human	known	74_37	rna	76.00	12	38	SNP	0.000	T
LRRC15	131578	genome.wustl.edu	37	3	194080470	194080470	+	Missense_Mutation	SNP	G	G	A	rs552954426		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr3:194080470G>A	ENST00000347624.3	-	2	1388	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C	LRRC15_ENST00000428839.1_Missense_Mutation_p.R441C|LRRC15_ENST00000439944.2_Missense_Mutation_p.R441C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	435	LRRCT.				negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|positive regulation of cell migration (GO:0030335)|receptor-mediated virion attachment to host cell (GO:0046813)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	collagen binding (GO:0005518)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)			biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		AGCCAGTTGCGGAGCGGAAGG	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		20481	0.001		0.0	False		,,,				2504	0.0																0													71.0	62.0	65.0					3																	194080470		2203	4300	6503	SO:0001583	missense	0			AB071037	CCDS3306.1, CCDS46984.1	3q29	2008-02-05			ENSG00000172061	ENSG00000172061			20818	protein-coding gene	gene with protein product						12923058	Standard	NM_001135057		Approved	LIB	uc003ftu.3	Q8TF66	OTTHUMG00000156048	ENST00000347624.3:c.1303C>T	3.37:g.194080470G>A	ENSP00000306276:p.Arg435Cys		Q495Q6|Q7RTN7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R441C	ENST00000347624.3	37	c.1321	CCDS3306.1	3	.	.	.	.	.	.	.	.	.	.	G	12.76	2.035569	0.35893	.	.	ENSG00000172061	ENST00000347624;ENST00000439944;ENST00000428839	T;T;T	0.25579	1.79;1.79;1.79	5.35	4.42	0.53409	Cysteine-rich flanking region, C-terminal (1);	0.961185	0.08661	N	0.912364	T	0.31040	0.0784	L	0.38953	1.18	0.29449	N	0.858578	D;D	0.64830	0.978;0.994	B;P	0.50049	0.425;0.629	T	0.07849	-1.0751	10	0.38643	T	0.18	.	13.0781	0.59099	0.0:0.0:0.7204:0.2796	.	435;441	Q8TF66;Q8TF66-2	LRC15_HUMAN;.	C	435;441;441	ENSP00000306276:R435C;ENSP00000389128:R441C;ENSP00000413707:R441C	ENSP00000306276:R435C	R	-	1	0	LRRC15	195561765	0.013000	0.17824	0.744000	0.31058	0.858000	0.48976	1.796000	0.38794	2.680000	0.91292	0.655000	0.94253	CGC	LRRC15	-	smart_Cys-rich_flank_reg_C	ENSG00000172061		0.562	LRRC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC15	HGNC	protein_coding	OTTHUMT00000342858.2	-	0.00	43	0	G			194080470	-1	tier1	-	no_errors	ENST00000439944	ensembl	human	known	74_37	missense	24.14	44	14	SNP	0.421	A
MARCO	8685	genome.wustl.edu	37	2	119727700	119727700	+	Silent	SNP	G	G	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr2:119727700G>T	ENST00000327097.4	+	3	345	c.210G>T	c.(208-210)ctG>ctT	p.L70L	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	70					apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TTCTGAATCTGCAGGCGCGGC	0.547																																					GBM(8;18 374 7467 11269 32796)												0													61.0	71.0	68.0					2																	119727700		2202	4300	6502	SO:0001819	synonymous_variant	0			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.210G>T	2.37:g.119727700G>T			B4DW79|Q9Y5S3	Silent	SNP	pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.L70	ENST00000327097.4	37	c.210	CCDS2124.1	2																																																																																			MARCO	-	NULL	ENSG00000019169		0.547	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	-	0.00	18	0	G	NM_006770		119727700	+1	tier1	-	no_errors	ENST00000327097	ensembl	human	known	74_37	silent	31.25	11	5	SNP	1.000	T
MGA	23269	genome.wustl.edu	37	15	42058227	42058227	+	Silent	SNP	A	A	C			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr15:42058227A>C	ENST00000570161.1	+	23	7947	c.7947A>C	c.(7945-7947)ccA>ccC	p.P2649P	MGA_ENST00000545763.1_Silent_p.P2440P|MGA_ENST00000219905.7_Silent_p.P2649P|MGA_ENST00000389936.4_Silent_p.P2610P|MGA_ENST00000566586.1_Silent_p.P2440P			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTATGATGCCACGAATTGTTA	0.368																																																	0													85.0	79.0	81.0					15																	42058227		1838	4093	5931	SO:0001819	synonymous_variant	0			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.7947A>C	15.37:g.42058227A>C			Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.P2649	ENST00000570161.1	37	c.7947	CCDS55959.1	15																																																																																			MGA	-	NULL	ENSG00000174197		0.368	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	-	0.00	32	0	A	NM_001164273.1		42058227	+1	tier1	-	no_errors	ENST00000219905	ensembl	human	known	74_37	silent	33.33	24	12	SNP	1.000	C
MIOX	55586	genome.wustl.edu	37	22	50927860	50927860	+	Missense_Mutation	SNP	C	C	A	rs555088706		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr22:50927860C>A	ENST00000216075.6	+	8	695	c.621C>A	c.(619-621)ttC>ttA	p.F207L	MIOX_ENST00000395732.3_Missense_Mutation_p.F207L|MIOX_ENST00000395733.3_Intron	NM_017584.5	NP_060054.4	Q9UGB7	MIOX_HUMAN	myo-inositol oxygenase	207					inositol catabolic process (GO:0019310)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)	aldo-keto reductase (NADP) activity (GO:0004033)|ferric iron binding (GO:0008199)|inositol oxygenase activity (GO:0050113)|NADP binding (GO:0050661)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen (GO:0016701)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTAACAAGTTCTCACTGCCCC	0.672																																																	0													27.0	21.0	23.0					22																	50927860		2203	4299	6502	SO:0001583	missense	0			AF197129	CCDS14092.1	22q13.3	2008-06-11	2005-06-15	2005-06-15	ENSG00000100253	ENSG00000100253			14522	protein-coding gene	gene with protein product	"""kidney-specific protein 32"""	606774	"""aldehyde reductase (aldose reductase) like 6"""	ALDRL6		10944187, 11716759	Standard	NM_017584		Approved		uc003bll.1	Q9UGB7	OTTHUMG00000150207	ENST00000216075.6:c.621C>A	22.37:g.50927860C>A	ENSP00000216075:p.Phe207Leu		Q05DJ6|Q5S8C9|Q9BZZ1|Q9UHB8	Missense_Mutation	SNP	pfam_Inositol_oxygenase	p.F207L	ENST00000216075.6	37	c.621	CCDS14092.1	22	.	.	.	.	.	.	.	.	.	.	c	11.70	1.716834	0.30413	.	.	ENSG00000100253	ENST00000216075;ENST00000395732;ENST00000451761	.	.	.	5.13	5.13	0.70059	.	0.106709	0.64402	D	0.000005	T	0.41213	0.1149	L	0.44542	1.39	0.27390	N	0.955168	B;B	0.26445	0.149;0.05	B;B	0.30782	0.12;0.084	T	0.43475	-0.9389	9	0.66056	D	0.02	12.2031	9.7288	0.40348	0.0:0.9047:0.0:0.0953	.	207;207	A6PVH2;Q9UGB7	.;MIOX_HUMAN	L	207;207;187	.	ENSP00000216075:F207L	F	+	3	2	MIOX	49274726	0.983000	0.35010	1.000000	0.80357	0.554000	0.35429	1.942000	0.40243	2.400000	0.81607	0.645000	0.84053	TTC	MIOX	-	pfam_Inositol_oxygenase	ENSG00000100253		0.672	MIOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIOX	HGNC	protein_coding	OTTHUMT00000316835.1	-	0.00	84	0	C	NM_017584		50927860	+1	tier1	-	no_errors	ENST00000216075	ensembl	human	known	74_37	missense	35.19	35	19	SNP	1.000	A
MROH2A	339766	genome.wustl.edu	37	2	234703137	234703137	+	Silent	SNP	G	G	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr2:234703137G>T	ENST00000389758.3	+	8	1117	c.951G>T	c.(949-951)gtG>gtT	p.V317V				A6NES4	MRO2A_HUMAN	maestro heat-like repeat family member 2A	347																	GTCTGGAGGTGCTCTTCGTCA	0.637																																																	0																																										SO:0001819	synonymous_variant	0				CCDS74674.1	2q37.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000185038	ENSG00000185038		"""maestro heat-like repeat containing"""	27936	protein-coding gene	gene with protein product			"""HEAT repeat containing 7B1"""	HEATR7B1		12477932	Standard	NM_001287395		Approved			A6NES4	OTTHUMG00000059037	ENST00000389758.3:c.951G>T	2.37:g.234703137G>T				Silent	SNP	superfamily_ARM-type_fold	p.V317	ENST00000389758.3	37	c.951		2																																																																																			MROH2A	-	superfamily_ARM-type_fold	ENSG00000185038		0.637	MROH2A-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	MROH2A	HGNC	protein_coding	OTTHUMT00000130646.6	-	0.00	73	0	G	XM_291007		234703137	+1	tier1	-	no_errors	ENST00000389758	ensembl	human	novel	74_37	silent	26.32	56	20	SNP	0.155	T
MSH4	4438	genome.wustl.edu	37	1	76346962	76346962	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr1:76346962G>T	ENST00000263187.3	+	14	1917	c.1813G>T	c.(1813-1815)Gaa>Taa	p.E605*		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	605					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TGAGATTTATGAACATATTCA	0.343								Mismatch excision repair (MMR)																																									0													172.0	159.0	163.0					1																	76346962		2203	4299	6502	SO:0001587	stop_gained	0			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1813G>T	1.37:g.76346962G>T	ENSP00000263187:p.Glu605*		Q5T4U6|Q8NEB3|Q9UNP8	Nonsense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.E605*	ENST00000263187.3	37	c.1813	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.901451	0.98551	.	.	ENSG00000057468	ENST00000263187	.	.	.	5.59	5.59	0.84812	.	0.049140	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15499	T	0.54	-26.5872	19.5992	0.95552	0.0:0.0:1.0:0.0	.	.	.	.	X	605	.	ENSP00000263187:E605X	E	+	1	0	MSH4	76119550	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.483000	0.81158	2.642000	0.89623	0.650000	0.86243	GAA	MSH4	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core	ENSG00000057468		0.343	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	-	0.00	182	0	G	NM_002440		76346962	+1	tier1	-	no_errors	ENST00000263187	ensembl	human	known	74_37	nonsense	5.23	163	9	SNP	1.000	T
APEH	327	genome.wustl.edu	37	3	49723526	49723526	+	IGR	SNP	G	G	T	rs200428217		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr3:49723526G>T	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Silent_p.I372I|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)	p.I358I(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TACAACGCCGGATCTGGTAGC	0.687																																																	1	Substitution - coding silent(1)	urinary_tract(1)											12.0	15.0	14.0					3																	49723526		2192	4286	6478	SO:0001628	intergenic_variant	0			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723526G>T			Q9BQ33|Q9P0Y2	Silent	SNP	pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.I372	ENST00000296456.5	37	c.1116	CCDS2801.1	3																																																																																			MST1	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000173531		0.687	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346415.2		0.00	53	0	G			49723526	-1			no_errors	ENST00000449682	ensembl	human	known	74_37	silent	7.14	26	2	SNP	1.000	T
MT-ATP6	4508	genome.wustl.edu	37	M	8980	8980	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chrM:8980C>T	ENST00000361899.2	+	1	454	c.454C>T	c.(454-456)Caa>Taa	p.Q152*	MT-CO3_ENST00000362079.2_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	152					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						GCCTACTCATTCAACCAATAG	0.473																																																	0																																										SO:0001587	stop_gained	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.454C>T	M.37:g.8980C>T	ENSP00000354632:p.Gln152*		Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Nonsense_Mutation	SNP	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	p.Q152*	ENST00000361899.2	37	c.454		MT																																																																																			MT-ATP6	-	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	ENSG00000198899		0.473	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	MT-ATP6	HGNC	protein_coding		-	0.00	75	0	C	YP_003024031		8980	+1	tier1	-	no_errors	ENST00000361899	ensembl	human	known	74_37	nonsense	16.67	10	2	SNP	NULL	T
MT-CO1	4512	genome.wustl.edu	37	M	3091	3091	+	5'Flank	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chrM:3091G>A	ENST00000361624.2	+	0	0				MT-TY_ENST00000387409.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TF_ENST00000387314.1_RNA|MT-ND2_ENST00000361453.3_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						GGAGTAATCCAGGTCGGTTTC	0.453																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.3091G>A	Exception_encountered		Q34770	RNA	SNP	-	NULL	ENST00000361624.2	37	NULL		MT																																																																																			MT-RNR2	-	-	ENSG00000210082		0.453	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	HGNC	protein_coding			0.00	94	0	G	YP_003024028		3091	+1			no_errors	ENST00000387347	ensembl	human	known	74_37	rna	12.00	22	3	SNP	NULL	A
MT-ND4L	4539	genome.wustl.edu	37	M	10673	10673	+	Silent	SNP	C	C	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chrM:10673C>A	ENST00000361335.1	+	1	204	c.204C>A	c.(202-204)gcC>gcA	p.A68A	MT-ND5_ENST00000361567.2_5'Flank|MT-ND4_ENST00000361381.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TK_ENST00000387421.1_RNA			P03901	NU4LM_HUMAN	mitochondrially encoded NADH dehydrogenase 4L	68					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(2)|kidney(2)	5						GTCTTTGCCGCCTGCGAAGCA	0.453																																																	0																																										SO:0001819	synonymous_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000212907	ENSG00000212907	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7460	protein-coding gene	gene with protein product	"""complex I ND4L subunit"", ""NADH-ubiquinone oxidoreductase chain 4L"""	516004	"""NADH dehydrogenase 4L"""	MTND4L			Standard			Approved	ND4L, NAD4L		P03901		ENST00000361335.1:c.204C>A	M.37:g.10673C>A				Silent	SNP	pfam_NADH_UbQ_OxRdtase_chain4L/K	p.A68	ENST00000361335.1	37	c.204		MT																																																																																			MT-ND4L	-	pfam_NADH_UbQ_OxRdtase_chain4L/K	ENSG00000212907		0.453	MT-ND4L-201	KNOWN	basic|appris_principal	protein_coding	MT-ND4L	HGNC	protein_coding		-	0.00	103	0	C	YP_003024034		10673	+1	tier1	-	no_errors	ENST00000361335	ensembl	human	known	74_37	silent	20.00	8	2	SNP	NULL	A
NANOGP1	404635	genome.wustl.edu	37	12	8051567	8051567	+	RNA	SNP	C	C	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:8051567C>A	ENST00000607111.1	+	0	787							Q8N7R0	NANG2_HUMAN	Nanog homeobox pseudogene 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|lung(4)|prostate(1)	6						CTCCCCTCCTCCCATCCCTCA	0.468																																																	0																																												0			AY455283		12p13.31	2014-03-20			ENSG00000176654	ENSG00000176654		"""Homeoboxes / ANTP class : NKL subclass"""	23099	pseudogene	pseudogene						15108323, 15233988	Standard	NG_006522		Approved	NANOG2	uc001qtp.1	Q8N7R0	OTTHUMG00000166020		12.37:g.8051567C>A				RNA	SNP	-	NULL	ENST00000607111.1	37	NULL		12																																																																																			NANOGP1	-	-	ENSG00000176654		0.468	NANOGP1-002	KNOWN	basic	processed_transcript	NANOGP1	HGNC	pseudogene	OTTHUMT00000470953.1	-	0.00	134	0	C			8051567	+1	tier1	-	no_errors	ENST00000607111	ensembl	human	known	74_37	rna	9.91	200	22	SNP	0.002	A
NBPF14	25832	genome.wustl.edu	37	1	148015634	148015634	+	Missense_Mutation	SNP	T	T	C	rs200156420	byFrequency	TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr1:148015634T>C	ENST00000369219.1	-	8	1013	c.997A>G	c.(997-999)Aac>Gac	p.N333D				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	333	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.			N -> D (in Ref. 3; AAO15399). {ECO:0000305}.		cytoplasm (GO:0005737)		p.N333D(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CCATCCATGTTAACAGCCAAG	0.463													-|||	445	0.0888578	0.146	0.0778	5008	,	,		13640	0.0675		0.0408	False		,,,				2504	0.091																1	Substitution - Missense(1)	skin(1)											4.0	3.0	4.0					1																	148015634		718	1612	2330	SO:0001583	missense	0			AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.997A>G	1.37:g.148015634T>C	ENSP00000358221:p.Asn333Asp		Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	pfam_NBPF_dom	p.N333D	ENST00000369219.1	37	c.997		1	.	.	.	.	.	.	.	.	.	.	-	0	-2.747081	0.00086	.	.	ENSG00000122497	ENST00000369219	T	0.04234	3.67	.	.	.	DUF1220 (2);	.	.	.	.	T	0.00210	0.0006	N	0.00028	-2.63	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43686	-0.9376	7	0.02654	T	1	.	.	.	.	.	333	Q5TI25	NBPFE_HUMAN	D	333	ENSP00000358221:N333D	ENSP00000358221:N333D	N	-	1	0	NBPF14	146482258	0.402000	0.25311	0.002000	0.10522	0.000000	0.00434	-1.348000	0.02629	0.357000	0.24183	0.000000	0.15137	AAC	NBPF14	-	pfam_NBPF_dom	ENSG00000122497		0.463	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	NBPF14	HGNC	protein_coding			0.00	28	0	T	NM_015383		148015634	-1			no_errors	ENST00000369219	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.002	C
NOTCH1	4851	genome.wustl.edu	37	9	139413231	139413231	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr9:139413231delT	ENST00000277541.6	-	6	986	c.911delA	c.(910-912)aatfs	p.N304fs	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	304	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGCAGGCATTTGGCATCAG	0.617			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													56.0	65.0	62.0					9																	139413231		2196	4296	6492	SO:0001589	frameshift_variant	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.911delA	9.37:g.139413231delT	ENSP00000277541:p.Asn304fs		Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.N304fs	ENST00000277541.6	37	c.911	CCDS43905.1	9																																																																																			NOTCH1	-	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.617	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1		0.00	156	0	T	NM_017617		139413231	-1	tier1		no_errors	ENST00000277541	ensembl	human	known	74_37	frame_shift_del	60.00	46	69	DEL	1.000	-
NPAS4	266743	genome.wustl.edu	37	11	66191454	66191454	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr11:66191454G>A	ENST00000311034.2	+	7	1269	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	365					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACTCTTCACCGCAGCACTGGG	0.567																																																	0													140.0	146.0	144.0					11																	66191454		2200	4295	6495	SO:0001583	missense	0			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.1093G>A	11.37:g.66191454G>A	ENSP00000311196:p.Ala365Thr		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	pfam_PAS_fold_3,superfamily_PAS,smart_PAS,pfscan_PAS	p.A365T	ENST00000311034.2	37	c.1093	CCDS8138.1	11	.	.	.	.	.	.	.	.	.	.	G	5.986	0.365841	0.11352	.	.	ENSG00000174576	ENST00000311034	T	0.42900	0.96	4.3	-1.5	0.08691	.	0.625953	0.14269	N	0.330283	T	0.17152	0.0412	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.11348	-1.0591	10	0.37606	T	0.19	-0.3787	3.347	0.07139	0.276:0.2272:0.4071:0.0897	.	365	Q8IUM7	NPAS4_HUMAN	T	365	ENSP00000311196:A365T	ENSP00000311196:A365T	A	+	1	0	NPAS4	65948030	0.004000	0.15560	0.218000	0.23776	0.686000	0.39977	0.166000	0.16583	-0.121000	0.11787	-2.538000	0.00180	GCA	NPAS4	-	NULL	ENSG00000174576		0.567	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	-	0.00	24	0	G	NM_178864		66191454	+1	tier1	-	no_errors	ENST00000311034	ensembl	human	known	74_37	missense	34.48	18	10	SNP	0.042	A
NYX	60506	genome.wustl.edu	37	X	41332755	41332755	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chrX:41332755G>A	ENST00000342595.2	+	2	505	c.49G>A	c.(49-51)Ggc>Agc	p.G17S	NYX_ENST00000486842.1_3'UTR|NYX_ENST00000378220.1_Missense_Mutation_p.G17S	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	17					response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GGTGGTCCTCGGCCTGCCCAG	0.697																																																	0													1.0	1.0	1.0					X																	41332755		724	1563	2287	SO:0001583	missense	0			AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.49G>A	X.37:g.41332755G>A	ENSP00000340328:p.Gly17Ser		D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.G17S	ENST00000342595.2	37	c.49	CCDS14256.1	X	.	.	.	.	.	.	.	.	.	.	G	6.665	0.491173	0.12702	.	.	ENSG00000188937	ENST00000342595;ENST00000378220	T;T	0.58358	0.34;0.34	4.86	-1.76	0.08006	.	0.734274	0.13934	N	0.352657	T	0.25717	0.0626	N	0.08118	0	0.09310	N	0.999996	B	0.16166	0.016	B	0.09377	0.004	T	0.18272	-1.0342	10	0.20519	T	0.43	.	8.5935	0.33701	0.0984:0.0:0.1766:0.725	.	17	Q9GZU5	NYX_HUMAN	S	17	ENSP00000340328:G17S;ENSP00000367465:G17S	ENSP00000340328:G17S	G	+	1	0	NYX	41217699	0.001000	0.12720	0.014000	0.15608	0.091000	0.18340	-0.011000	0.12721	-0.324000	0.08589	-0.353000	0.07706	GGC	NYX	-	NULL	ENSG00000188937		0.697	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYX	HGNC	protein_coding	OTTHUMT00000056256.1		0.00	36	0	G	NM_022567		41332755	+1			no_errors	ENST00000342595	ensembl	human	known	74_37	missense	31.58	13	6	SNP	0.186	A
OR51G2	81282	genome.wustl.edu	37	11	4936269	4936269	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr11:4936269C>T	ENST00000322013.3	-	1	653	c.625G>A	c.(625-627)Gtc>Atc	p.V209I	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	209						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTGTAGAGACGATGACAAAC	0.512																																																	0													136.0	109.0	118.0					11																	4936269		2201	4298	6499	SO:0001583	missense	0			AB065794	CCDS31365.1	11p15.4	2012-08-09			ENSG00000176893	ENSG00000176893		"""GPCR / Class A : Olfactory receptors"""	15198	protein-coding gene	gene with protein product							Standard	NM_001005238		Approved		uc001lzr.1	Q8NGK0	OTTHUMG00000066501	ENST00000322013.3:c.625G>A	11.37:g.4936269C>T	ENSP00000322593:p.Val209Ile		Q6IFH7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V209I	ENST00000322013.3	37	c.625	CCDS31365.1	11	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.238704	0.00274	.	.	ENSG00000176893	ENST00000322013	T	0.37584	1.19	5.28	-2.68	0.06041	GPCR, rhodopsin-like superfamily (1);	0.675461	0.12926	N	0.427792	T	0.08088	0.0202	N	0.01624	-0.795	0.09310	N	1	B	0.21452	0.056	B	0.16722	0.016	T	0.31916	-0.9926	10	0.02654	T	1	.	2.661	0.05027	0.1026:0.4437:0.2004:0.2533	.	209	Q8NGK0	O51G2_HUMAN	I	209	ENSP00000322593:V209I	ENSP00000322593:V209I	V	-	1	0	OR51G2	4892845	0.000000	0.05858	0.090000	0.20809	0.152000	0.21847	-2.731000	0.00805	-0.239000	0.09710	-1.662000	0.00750	GTC	OR51G2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000176893		0.512	OR51G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51G2	HGNC	protein_coding	OTTHUMT00000142174.1	-	0.00	46	0	C	NM_001005238		4936269	-1	tier1	-	no_errors	ENST00000322013	ensembl	human	known	74_37	missense	20.00	36	9	SNP	0.003	T
OR10G8	219869	genome.wustl.edu	37	11	123900990	123900990	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr11:123900990G>A	ENST00000431524.1	+	1	694	c.661G>A	c.(661-663)Gtc>Atc	p.V221I		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	221						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V221I(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGTGTCCATCGTCTGTTCCAT	0.542																																																	1	Substitution - Missense(1)	prostate(1)											171.0	148.0	156.0					11																	123900990		2201	4299	6500	SO:0001583	missense	0			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.661G>A	11.37:g.123900990G>A	ENSP00000389072:p.Val221Ile		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V221I	ENST00000431524.1	37	c.661	CCDS31704.1	11	.	.	.	.	.	.	.	.	.	.	G	0.010	-1.747167	0.00669	.	.	ENSG00000234560	ENST00000431524	T	0.00048	8.82	2.91	-0.148	0.13424	GPCR, rhodopsin-like superfamily (1);	0.317250	0.22424	N	0.060258	T	0.00073	0.0002	N	0.05534	-0.03	0.09310	N	1	B	0.15930	0.015	B	0.21360	0.034	T	0.16600	-1.0397	10	0.33940	T	0.23	.	3.2637	0.06858	0.4226:0.0:0.2966:0.2808	.	221	Q8NGN5	O10G8_HUMAN	I	221	ENSP00000389072:V221I	ENSP00000389072:V221I	V	+	1	0	OR10G8	123406200	0.000000	0.05858	0.019000	0.16419	0.001000	0.01503	-1.743000	0.01834	-0.156000	0.11079	-1.011000	0.02470	GTC	OR10G8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000234560		0.542	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	HGNC	protein_coding	OTTHUMT00000387270.1	-	0.00	188	0	G	NM_001004464		123900990	+1	tier1	-	no_errors	ENST00000431524	ensembl	human	known	74_37	missense	32.12	93	44	SNP	0.000	A
PDZD2	23037	genome.wustl.edu	37	5	32090983	32090983	+	Missense_Mutation	SNP	G	G	A	rs370676238		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:32090983G>A	ENST00000438447.1	+	20	7817	c.7429G>A	c.(7429-7431)Gtg>Atg	p.V2477M	PDZD2_ENST00000282493.3_Missense_Mutation_p.V2477M			O15018	PDZD2_HUMAN	PDZ domain containing 2	2477					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCCTCGCCCGTGTCCCGCTC	0.592																																																	0								G	MET/VAL	1,4405	2.1+/-5.4	0,1,2202	60.0	59.0	59.0		7429	-2.7	0.0	5		59	0,8600		0,0,4300	no	missense	PDZD2	NM_178140.2	21	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	2477/2840	32090983	1,13005	2203	4300	6503	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.7429G>A	5.37:g.32090983G>A	ENSP00000402033:p.Val2477Met		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V2477M	ENST00000438447.1	37	c.7429	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	13.93	2.384252	0.42308	2.27E-4	0.0	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.08008	3.14;3.14	5.15	-2.68	0.06041	.	0.339903	0.21229	N	0.078019	T	0.06325	0.0163	L	0.36672	1.1	0.09310	N	0.999999	D	0.60160	0.987	B	0.43331	0.416	T	0.30475	-0.9977	10	0.41790	T	0.15	.	8.5719	0.33574	0.0:0.1835:0.1678:0.6487	.	2477	O15018	PDZD2_HUMAN	M	2477;2278;2477	ENSP00000402033:V2477M;ENSP00000282493:V2477M	ENSP00000282493:V2477M	V	+	1	0	PDZD2	32126740	0.000000	0.05858	0.001000	0.08648	0.547000	0.35210	-1.490000	0.02304	-0.648000	0.05437	0.561000	0.74099	GTG	PDZD2	-	NULL	ENSG00000133401		0.592	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	-	0.00	30	0	G			32090983	+1	tier1	-	no_errors	ENST00000282493	ensembl	human	known	74_37	missense	21.28	37	10	SNP	0.008	A
PKD1L2	114780	genome.wustl.edu	37	16	81209275	81209275	+	RNA	SNP	G	G	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr16:81209275G>T	ENST00000527937.1	-	0	399				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)	p.L840V(2)|p.L155V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ACTACTGTCAGCACAAAGTCA	0.522																																																	3	Substitution - Missense(3)	lung(3)											113.0	113.0	113.0					16																	81209275		2062	4209	6271			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81209275G>T			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like	p.L840M	ENST00000527937.1	37	c.2518		16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.37|14.37	2.516050|2.516050	0.44763|0.44763	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000526632|ENST00000531391;ENST00000337114;ENST00000527937	.|T;T;T	.|0.34667	.|1.35;1.35;1.35	4.82|4.82	0.468|0.468	0.16732|0.16732	.|Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	.|0.000000	.|0.64402	.|D	.|0.000013	T|T	0.49864|0.49864	0.1582|0.1582	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|D;D;D	.|0.89917	.|0.996;1.0;1.0	.|D;D;D	.|0.91635	.|0.964;0.996;0.999	T|T	0.34254|0.34254	-0.9836|-0.9836	4|9	.|0.87932	.|D	.|0	-5.877|-5.877	3.9734|3.9734	0.09464|0.09464	0.365:0.1733:0.4617:0.0|0.365:0.1733:0.4617:0.0	.|.	.|96;840;840	.|Q7Z442-6;Q7Z442-3;Q7Z442	.|.;.;PK1L2_HUMAN	D|M	367|155;840;96	.|ENSP00000436309:L155M;ENSP00000337397:L840M;ENSP00000432818:L96M	.|ENSP00000337397:L840M	A|L	-|-	2|1	0|2	PKD1L2|PKD1L2	79766776|79766776	0.315000|0.315000	0.24571|0.24571	0.959000|0.959000	0.39883|0.39883	0.645000|0.645000	0.38454|0.38454	0.066000|0.066000	0.14489|0.14489	0.086000|0.086000	0.17137|0.17137	0.455000|0.455000	0.32223|0.32223	GCT|CTG	PKD1L2	-	pfam_PKD/REJ-like,superfamily_Coatomer/clathrin_app_Ig-like,pfscan_REJ-like	ENSG00000166473		0.522	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387978.1		0.00	47	0	G			81209275	-1			no_errors	ENST00000337114	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.180	T
PLBD1	79887	genome.wustl.edu	37	12	14706313	14706313	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:14706313G>C	ENST00000240617.5	-	2	801	c.149C>G	c.(148-150)gCt>gGt	p.A50G	RN7SKP134_ENST00000363960.1_RNA	NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	50					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TGTCTTTTCAGCAGGCATCCA	0.413																																																	0													99.0	96.0	97.0					12																	14706313		2203	4300	6503	SO:0001583	missense	0			BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.149C>G	12.37:g.14706313G>C	ENSP00000240617:p.Ala50Gly		A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	pfam_PLipase_B-like	p.A50G	ENST00000240617.5	37	c.149	CCDS31751.1	12	.	.	.	.	.	.	.	.	.	.	G	10.59	1.393863	0.25205	.	.	ENSG00000121316	ENST00000240617;ENST00000540572	T	0.17691	2.26	6.17	1.74	0.24563	.	1.483950	0.03327	N	0.192759	T	0.17916	0.0430	L	0.35593	1.075	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.44877	-0.9299	10	0.20519	T	0.43	1.7508	15.7445	0.77929	0.0:0.0:0.3544:0.6456	.	50	Q6P4A8	PLBL1_HUMAN	G	50;3	ENSP00000240617:A50G	ENSP00000240617:A50G	A	-	2	0	PLBD1	14597580	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.693000	0.25497	-0.010000	0.14271	-0.169000	0.13324	GCT	PLBD1	-	pfam_PLipase_B-like	ENSG00000121316		0.413	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD1	HGNC	protein_coding	OTTHUMT00000401203.1	-	0.00	42	0	G	NM_024829		14706313	-1	tier1	-	no_errors	ENST00000240617	ensembl	human	known	74_37	missense	39.74	47	31	SNP	0.000	C
PLG	5340	genome.wustl.edu	37	6	161139850	161139850	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr6:161139850C>T	ENST00000308192.9	+	9	1139	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	359					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCAGTATCCACGGAACAATTG	0.498																																																	0													79.0	75.0	76.0					6																	161139850		2203	4300	6503	SO:0001583	missense	0			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.1076C>T	6.37:g.161139850C>T	ENSP00000308938:p.Thr359Met		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1	p.T359M	ENST00000308192.9	37	c.1076	CCDS5279.1	6	.	.	.	.	.	.	.	.	.	.	C	8.724	0.915056	0.17907	.	.	ENSG00000122194	ENST00000308192	D	0.88431	-2.38	5.4	2.61	0.31194	Kringle-like fold (1);	0.398742	0.17761	U	0.162913	T	0.66197	0.2765	N	0.25485	0.75	0.09310	N	1	B	0.31100	0.308	B	0.23419	0.046	T	0.57997	-0.7714	10	0.42905	T	0.14	.	9.084	0.36570	0.0:0.7587:0.0:0.2413	.	359	P00747	PLMN_HUMAN	M	359	ENSP00000308938:T359M	ENSP00000308938:T359M	T	+	2	0	PLG	161059840	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.016000	0.12613	0.840000	0.34995	-0.253000	0.11424	ACG	PLG	-	pirsf_Pept_S1A_plasmin,superfamily_Kringle-like	ENSG00000122194		0.498	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLG	HGNC	protein_coding	OTTHUMT00000042959.2	-	0.00	56	0	C	NM_000301		161139850	+1	tier1	-	no_errors	ENST00000308192	ensembl	human	known	74_37	missense	32.00	34	16	SNP	0.000	T
POMP	51371	genome.wustl.edu	37	13	29252307	29252307	+	3'UTR	SNP	G	G	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr13:29252307G>T	ENST00000380842.4	+	0	575				POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein						proteasome assembly (GO:0043248)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		GTAATTTGATGTACACAACAT	0.368																																																	0													212.0	189.0	196.0					13																	29252307		692	1591	2283	SO:0001624	3_prime_UTR_variant	0			AF077200	CCDS9331.1	13q12.13	2013-11-11	2006-07-04	2006-07-04	ENSG00000132963	ENSG00000132963			20330	protein-coding gene	gene with protein product	"""proteassemblin"""	613386	"""chromosome 13 open reading frame 12"""	C13orf12		11042152	Standard	NM_015932		Approved	HSPC014, UMP1	uc001usf.3	Q9Y244	OTTHUMG00000016652	ENST00000380842.4:c.*68G>T	13.37:g.29252307G>T			A5HKJ2|D6MXU3|Q9HB69	RNA	SNP	-	NULL	ENST00000380842.4	37	NULL	CCDS9331.1	13																																																																																			POMP	-	-	ENSG00000132963		0.368	POMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMP	HGNC	protein_coding	OTTHUMT00000044327.1	-	0.00	47	0	G	NM_015932		29252307	+1	tier1	-	no_errors	ENST00000460403	ensembl	human	known	74_37	rna	9.76	37	4	SNP	0.959	T
PRKG2	5593	genome.wustl.edu	37	4	82065482	82065482	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr4:82065482G>T	ENST00000395578.1	-	10	1273	c.1157C>A	c.(1156-1158)aCa>aAa	p.T386K	PRKG2_ENST00000545647.1_5'UTR|PRKG2_ENST00000418486.2_Missense_Mutation_p.T386K|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.T386K			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	386					blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TTGGTTGAATGTTCTAAATAG	0.373																																																	0													115.0	108.0	111.0					4																	82065482		2203	4300	6503	SO:0001583	missense	0			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.1157C>A	4.37:g.82065482G>T	ENSP00000378945:p.Thr386Lys		B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.T386K	ENST00000395578.1	37	c.1157	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	G	18.98	3.736859	0.69304	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486	D;D;D	0.92446	-3.04;-3.04;-3.04	5.31	5.31	0.75309	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.048506	0.85682	D	0.000000	D	0.92374	0.7580	L	0.58969	1.84	0.80722	D	1	P;P	0.42993	0.797;0.697	P;B	0.47346	0.544;0.326	D	0.90322	0.4345	10	0.23891	T	0.37	-19.0653	18.9358	0.92584	0.0:0.0:1.0:0.0	.	386;386	E7EPE6;Q13237	.;KGP2_HUMAN	K	386	ENSP00000378945:T386K;ENSP00000264399:T386K;ENSP00000389038:T386K	ENSP00000264399:T386K	T	-	2	0	PRKG2	82284506	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	6.464000	0.73534	2.640000	0.89533	0.655000	0.94253	ACA	PRKG2	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,prints_cGMP_dep_kinase	ENSG00000138669		0.373	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	-	0.00	38	0	G	NM_006259		82065482	-1	tier1	-	no_errors	ENST00000264399	ensembl	human	known	74_37	missense	8.70	42	4	SNP	1.000	T
PTPRD	5789	genome.wustl.edu	37	9	8486299	8486299	+	Missense_Mutation	SNP	G	G	T	rs142009246	byFrequency	TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr9:8486299G>T	ENST00000381196.4	-	25	3061	c.2518C>A	c.(2518-2520)Ctt>Att	p.L840I	PTPRD_ENST00000356435.5_Missense_Mutation_p.L840I|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000537002.1_Intron|PTPRD_ENST00000360074.4_Missense_Mutation_p.L827I|PTPRD_ENST00000358503.5_Missense_Mutation_p.L818I|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000540109.1_Missense_Mutation_p.L840I	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	840	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACTGAATAAGAGCAGTATTC	0.488										TSP Lung(15;0.13)																																							0													75.0	73.0	74.0					9																	8486299		2203	4300	6503	SO:0001583	missense	0			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.2518C>A	9.37:g.8486299G>T	ENSP00000370593:p.Leu840Ile		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt	p.L840I	ENST00000381196.4	37	c.2518	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601793	0.46423	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000540109	T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41	5.93	5.93	0.95920	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71728	0.3374	M	0.61703	1.905	0.80722	D	1	B;D;B	0.76494	0.292;0.999;0.359	B;D;B	0.80764	0.101;0.994;0.192	T	0.67681	-0.5608	9	.	.	.	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	827;840;840	G3XAE2;Q2HXI4;P23468	.;.;PTPRD_HUMAN	I	840;840;827;818;840	ENSP00000370593:L840I;ENSP00000348812:L840I;ENSP00000353187:L827I;ENSP00000351293:L818I;ENSP00000438164:L840I	.	L	-	1	0	PTPRD	8476299	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.297000	0.72757	2.826000	0.97356	0.655000	0.94253	CTT	PTPRD	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000153707		0.488	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	-	0.00	59	0	G			8486299	-1	tier1	-	no_errors	ENST00000356435	ensembl	human	known	74_37	missense	28.95	27	11	SNP	1.000	T
RAB3C	115827	genome.wustl.edu	37	5	57913496	57913496	+	Silent	SNP	C	C	T	rs554866418		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:57913496C>T	ENST00000282878.4	+	2	220	c.51C>T	c.(49-51)taC>taT	p.Y17Y		NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	17					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.Y17Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		ATGCCAGGTACGGCCAGAAAG	0.403													T|||	1	0.000199681	0.0	0.0	5008	,	,		20678	0.0		0.0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	large_intestine(1)											73.0	69.0	70.0					5																	57913496		2203	4300	6503	SO:0001819	synonymous_variant	0			AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.51C>T	5.37:g.57913496C>T				Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Y17	ENST00000282878.4	37	c.51	CCDS3976.1	5																																																																																			RAB3C	-	NULL	ENSG00000152932		0.403	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3C	HGNC	protein_coding	OTTHUMT00000214156.2	-	0.00	29	0	C	NM_138453		57913496	+1	tier1	-	no_errors	ENST00000282878	ensembl	human	known	74_37	silent	44.83	16	13	SNP	0.999	T
RIN1	9610	genome.wustl.edu	37	11	66103267	66103267	+	Silent	SNP	G	G	A	rs374126284		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr11:66103267G>A	ENST00000311320.4	-	3	474	c.348C>T	c.(346-348)ttC>ttT	p.F116F	RIN1_ENST00000524804.1_5'Flank|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000530056.1_Silent_p.F11F|RIN1_ENST00000424433.2_Silent_p.F11F	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	116	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				associative learning (GO:0008306)|endocytosis (GO:0006897)|memory (GO:0007613)|negative regulation of synaptic plasticity (GO:0031914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GGCTGGAGACGAAGGAGGGGC	0.637																																																	0													28.0	33.0	32.0					11																	66103267		2200	4295	6495	SO:0001819	synonymous_variant	0			L36463	CCDS31614.1	11q13.2	2005-09-18				ENSG00000174791			18749	protein-coding gene	gene with protein product		605965				9144171, 1849280	Standard	NM_004292		Approved		uc001ohn.1	Q13671		ENST00000311320.4:c.348C>T	11.37:g.66103267G>A			O15010|Q00427|Q96CC8	Missense_Mutation	SNP	NULL	p.S56L	ENST00000311320.4	37	c.167	CCDS31614.1	11																																																																																			RIN1	-	NULL	ENSG00000174791		0.637	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	HGNC	protein_coding	OTTHUMT00000392980.2	-	0.00	59	0	G	NM_004292		66103267	-1	tier1	-	no_errors	ENST00000530745	ensembl	human	known	74_37	missense	20.41	39	10	SNP	0.772	A
SCUBE1	80274	genome.wustl.edu	37	22	43617211	43617211	+	Missense_Mutation	SNP	C	C	T	rs140525929		TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr22:43617211C>T	ENST00000360835.4	-	13	1643	c.1517G>A	c.(1516-1518)cGa>cAa	p.R506Q		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1	506					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|post-embryonic development (GO:0009791)|protein homooligomerization (GO:0051260)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CTCCTTTGCTCGTGCCTGGCT	0.637																																																	0								C	GLN/ARG	0,4406		0,0,2203	30.0	34.0	33.0		1517	-1.5	0.0	22	dbSNP_134	33	1,8595	1.2+/-3.3	0,1,4297	no	missense	SCUBE1	NM_173050.3	43	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	506/989	43617211	1,13001	2203	4298	6501	SO:0001583	missense	0				CCDS14048.1	22q13	2008-07-01			ENSG00000159307	ENSG00000159307			13441	protein-coding gene	gene with protein product		611746				11087664	Standard	NM_173050		Approved		uc003bdt.2	Q8IWY4	OTTHUMG00000150679	ENST00000360835.4:c.1517G>A	22.37:g.43617211C>T	ENSP00000354080:p.Arg506Gln		Q5R336	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom	p.R506Q	ENST00000360835.4	37	c.1517	CCDS14048.1	22	.	.	.	.	.	.	.	.	.	.	C	7.830	0.719652	0.15372	0.0	1.16E-4	ENSG00000159307	ENST00000360835;ENST00000381243	D	0.84800	-1.9	4.68	-1.49	0.08718	.	0.308177	0.33309	N	0.005046	T	0.68668	0.3026	L	0.33485	1.01	0.25261	N	0.989595	B	0.14438	0.01	B	0.09377	0.004	T	0.51164	-0.8740	10	0.09338	T	0.73	.	5.6451	0.17584	0.0:0.1744:0.3874:0.4382	.	506	Q8IWY4	SCUB1_HUMAN	Q	506;136	ENSP00000354080:R506Q	ENSP00000354080:R506Q	R	-	2	0	SCUBE1	41947155	0.000000	0.05858	0.024000	0.17045	0.024000	0.10985	0.710000	0.25748	-0.036000	0.13669	-0.140000	0.14226	CGA	SCUBE1	-	NULL	ENSG00000159307		0.637	SCUBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE1	HGNC	protein_coding	OTTHUMT00000319582.3	-	0.00	210	0	C	NM_173050		43617211	-1	tier1	rs140525929	no_errors	ENST00000360835	ensembl	human	known	74_37	missense	44.19	48	38	SNP	0.048	T
SETX	23064	genome.wustl.edu	37	9	135153554	135153554	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr9:135153554G>T	ENST00000224140.5	-	21	6927	c.6745C>A	c.(6745-6747)Ctg>Atg	p.L2249M	SETX_ENST00000372169.2_Missense_Mutation_p.L2249M|SETX_ENST00000393220.1_Missense_Mutation_p.L2249M|SETX_ENST00000477049.1_5'Flank	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	2249					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		AGAATGGGCAGCCTGCTGATC	0.448																																																	0													182.0	163.0	169.0					9																	135153554		2203	4300	6503	SO:0001583	missense	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.6745C>A	9.37:g.135153554G>T	ENSP00000224140:p.Leu2249Met		A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.L2249M	ENST00000224140.5	37	c.6745	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	G	11.04	1.523095	0.27211	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	5.87	1.29	0.21616	.	0.413210	0.21167	N	0.079044	D	0.83064	0.5173	L	0.31804	0.96	0.09310	N	1	B;P;P	0.34615	0.058;0.454;0.459	B;B;B	0.34138	0.086;0.176;0.11	T	0.74919	-0.3500	10	0.59425	D	0.04	.	2.4637	0.04547	0.1326:0.142:0.4357:0.2898	.	2249;2249;2249	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	M	2249;491;2249;2249	ENSP00000224140:L2249M;ENSP00000409143:L491M;ENSP00000361242:L2249M;ENSP00000376913:L2249M	ENSP00000224140:L2249M	L	-	1	2	SETX	134143375	0.728000	0.28080	0.906000	0.35671	0.516000	0.34256	1.727000	0.38095	0.737000	0.32582	0.650000	0.86243	CTG	SETX	-	superfamily_P-loop_NTPase	ENSG00000107290		0.448	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3		0.00	33	0	G	NM_015046		135153554	-1			no_errors	ENST00000372169	ensembl	human	known	74_37	missense	5.41	35	2	SNP	0.024	T
SIGLEC1	6614	genome.wustl.edu	37	20	3672113	3672113	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr20:3672113G>A	ENST00000344754.4	-	17	4464	c.4465C>T	c.(4465-4467)Cac>Tac	p.H1489Y	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.H1489Y	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1489	Ig-like C2-type 15.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCTCCGCGTGCAGCCGCCGG	0.677																																																	0													66.0	67.0	66.0					20																	3672113		2203	4299	6502	SO:0001583	missense	0			AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.4465C>T	20.37:g.3672113G>A	ENSP00000341141:p.His1489Tyr		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.H1489Y	ENST00000344754.4	37	c.4465	CCDS13060.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.004|0.004	-2.241323|-2.241323	0.00274|0.00274	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000419548|ENST00000344754;ENST00000202578	.|T;T	.|0.24350	.|1.9;1.86	5.34|5.34	2.11|2.11	0.27256|0.27256	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.718717	.|0.12028	.|N	.|0.506258	T|T	0.22589|0.22589	0.0545|0.0545	M|M	0.64404|0.64404	1.975|1.975	0.09310|0.09310	N|N	1|1	.|B;B	.|0.09022	.|0.002;0.002	.|B;B	.|0.08055	.|0.002;0.003	T|T	0.23511|0.23511	-1.0186|-1.0186	5|10	.|0.37606	.|T	.|0.19	.|.	3.8118|3.8118	0.08799|0.08799	0.0893:0.1636:0.5781:0.169|0.0893:0.1636:0.5781:0.169	.|.	.|1489;1489	.|Q9BZZ2;Q9BZZ2-3	.|SN_HUMAN;.	V|Y	302|1489	.|ENSP00000341141:H1489Y;ENSP00000202578:H1489Y	.|ENSP00000202578:H1489Y	A|H	-|-	2|1	0|0	SIGLEC1|SIGLEC1	3620113|3620113	0.001000|0.001000	0.12720|0.12720	0.001000|0.001000	0.08648|0.08648	0.010000|0.010000	0.07245|0.07245	0.941000|0.941000	0.29005|0.29005	0.728000|0.728000	0.32382|0.32382	0.655000|0.655000	0.94253|0.94253	GCA|CAC	SIGLEC1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000088827		0.677	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC1	HGNC	protein_coding	OTTHUMT00000077761.2	-	0.00	53	0	G	NM_023068		3672113	-1	tier1	-	no_errors	ENST00000344754	ensembl	human	known	74_37	missense	31.71	56	26	SNP	0.001	A
SLC36A3	285641	genome.wustl.edu	37	5	150660711	150660711	+	Silent	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr5:150660711G>A	ENST00000335230.3	-	9	1419	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	SLC36A3_ENST00000377713.3_Silent_p.I377I	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	336						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGAAGATGCCGATAGAGTACA	0.517																																																	0													223.0	171.0	189.0					5																	150660711		2203	4300	6503	SO:0001819	synonymous_variant	0			AY162215	CCDS4314.1, CCDS47316.1	5q33.1	2013-07-17	2013-07-17		ENSG00000186334	ENSG00000186334		"""Solute carriers"""	19659	protein-coding gene	gene with protein product		608332				12809675	Standard	NM_181774		Approved	PAT3, TRAMD2, tramdorin2	uc003ltw.2	Q495N2	OTTHUMG00000130128	ENST00000335230.3:c.1008C>T	5.37:g.150660711G>A			Q495N3|Q6ZMU7|Q6ZRU4|Q7Z6B4	Silent	SNP	pfam_AA_transpt_TM	p.I377	ENST00000335230.3	37	c.1131	CCDS4314.1	5																																																																																			SLC36A3	-	pfam_AA_transpt_TM	ENSG00000186334		0.517	SLC36A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A3	HGNC	protein_coding	OTTHUMT00000252436.1	-	0.00	47	0	G	NM_181774		150660711	-1	tier1	-	no_errors	ENST00000377713	ensembl	human	known	74_37	silent	17.46	52	11	SNP	0.005	A
SLCO1A2	6579	genome.wustl.edu	37	12	21457384	21457384	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:21457384A>G	ENST00000307378.6	-	7	1286	c.566T>C	c.(565-567)tTt>tCt	p.F189S	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.F187S|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.F57S|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.F57S|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.F189S	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	189					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	AGAATTTTCAAATTTGGCAAA	0.348																																																	0													54.0	57.0	56.0					12																	21457384		2203	4300	6503	SO:0001583	missense	0				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.566T>C	12.37:g.21457384A>G	ENSP00000305974:p.Phe189Ser		Q9UGP7|Q9UL38	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.F189S	ENST00000307378.6	37	c.566	CCDS8686.1	12	.	.	.	.	.	.	.	.	.	.	A	9.677	1.148300	0.21288	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4	4.75	2.93	0.34026	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.714821	0.13928	N	0.353072	T	0.14270	0.0345	N	0.00162	-1.95	0.19775	N	0.999954	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.0	T	0.22977	-1.0201	10	0.06494	T	0.89	.	10.8498	0.46763	0.1536:0.0:0.8464:0.0	.	169;187;189	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	S	189;189;57;57;187	ENSP00000305974:F189S;ENSP00000393973:F189S;ENSP00000394854:F57S;ENSP00000439401:F57S;ENSP00000375088:F187S	ENSP00000305974:F189S	F	-	2	0	SLCO1A2	21348651	0.806000	0.28996	0.999000	0.59377	0.991000	0.79684	1.512000	0.35812	0.626000	0.30322	-0.202000	0.12741	TTT	SLCO1A2	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000084453		0.348	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	HGNC	protein_coding	OTTHUMT00000343648.3	-	0.00	38	0	A	NM_021094		21457384	-1	tier1	-	no_errors	ENST00000307378	ensembl	human	known	74_37	missense	23.73	45	14	SNP	0.985	G
SRPK1	6732	genome.wustl.edu	37	6	35837431	35837434	+	Frame_Shift_Del	DEL	AGAG	AGAG	-			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	AGAG	AGAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr6:35837431_35837434delAGAG	ENST00000373825.2	-	11	1521_1524	c.1236_1239delCTCT	c.(1234-1239)gactctfs	p.DS412fs	SRPK1_ENST00000373822.1_Frame_Shift_Del_p.DS305fs|SRPK1_ENST00000423325.2_Frame_Shift_Del_p.DS396fs					SRSF protein kinase 1									p.S413Y(1)		endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TAGGTGTACAAGAGTCTGTTTCTT	0.417																																					NSCLC(31;67 978 16289 24856 26454)												1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0			U09564	CCDS47415.1	6p21.31	2010-06-23	2010-06-23		ENSG00000096063	ENSG00000096063			11305	protein-coding gene	gene with protein product	"""SR protein kinase 1"", ""serine/arginine-rich splicing factor kinase 1"""	601939	"""SFRS protein kinase 1"""			8208298, 10198174	Standard	NM_003137		Approved	SFRSK1	uc003olj.3	Q96SB4	OTTHUMG00000014583	ENST00000373825.2:c.1236_1239delCTCT	6.37:g.35837431_35837434delAGAG	ENSP00000362931:p.Asp412fs			Frame_Shift_Del	DEL	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.S413fs	ENST00000373825.2	37	c.1239_1236	CCDS47415.1	6																																																																																			SRPK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom	ENSG00000096063		0.417	SRPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRPK1	HGNC	protein_coding	OTTHUMT00000040319.3		0.00	98	0	AGAG	NM_003137		35837434	-1	tier1		no_errors	ENST00000373825	ensembl	human	known	74_37	frame_shift_del	23.75	61	19	DEL	1.000:1.000:1.000:1.000	-
SUSD4	55061	genome.wustl.edu	37	1	223408377	223408377	+	Intron	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr1:223408377G>A	ENST00000343846.3	-	5	1358				SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000344029.6_Missense_Mutation_p.L264F|SUSD4_ENST00000366878.4_Intron|SUSD4_ENST00000454695.2_Intron|SUSD4_ENST00000494793.2_Intron|SUSD4_ENST00000484758.2_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4							integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		CAAAAATAAAGCACAGCAGCT	0.433																																																	0													128.0	119.0	122.0					1																	223408377		2203	4300	6503	SO:0001627	intron_variant	0			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.725-5647C>T	1.37:g.223408377G>A			D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L264F	ENST00000343846.3	37	c.790	CCDS41471.1	1	.	.	.	.	.	.	.	.	.	.	G	7.261	0.605208	0.14002	.	.	ENSG00000143502	ENST00000344029	T	0.34667	1.35	2.34	-3.53	0.04667	.	.	.	.	.	T	0.23094	0.0558	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.21552	-1.0242	8	0.52906	T	0.07	.	6.4197	0.21736	0.6037:0.0:0.3963:0.0	.	264	Q5VX71-3	.	F	264	ENSP00000339926:L264F	ENSP00000339926:L264F	L	-	1	0	SUSD4	221475000	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.095000	0.03356	-0.937000	0.03719	-0.259000	0.10710	CTT	SUSD4	-	NULL	ENSG00000143502		0.433	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	-	0.00	54	0	G	NM_017982		223408377	-1	tier1	-	no_errors	ENST00000344029	ensembl	human	known	74_37	missense	67.65	11	23	SNP	0.000	A
THNSL2	55258	genome.wustl.edu	37	2	88474919	88474919	+	Splice_Site	SNP	A	A	G			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr2:88474919A>G	ENST00000324166.5	+	3	2261	c.570A>G	c.(568-570)ggA>ggG	p.G190G	THNSL2_ENST00000343544.4_Splice_Site_p.G190G|THNSL2_ENST00000402102.1_Splice_Site_p.G190G|THNSL2_ENST00000449349.1_Splice_Site_p.G158G|THNSL2_ENST00000377254.3_Splice_Site_p.G190G|THNSL2_ENST00000358591.2_Splice_Site_p.G190G|THNSL2_ENST00000496844.1_3'UTR	NM_018271.4	NP_060741.3	Q86YJ6	THNS2_HUMAN	threonine synthase-like 2 (S. cerevisiae)	190					2-oxobutyrate biosynthetic process (GO:0046360)|dephosphorylation (GO:0016311)|serine family amino acid catabolic process (GO:0009071)	extracellular space (GO:0005615)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|serine binding (GO:0070905)			breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						ATGTGTTTGGAGGTGTGTGCT	0.502																																																	0													135.0	100.0	112.0					2																	88474919		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS2002.2, CCDS58718.1, CCDS74539.1	2p11.2	2007-06-20			ENSG00000144115	ENSG00000144115			25602	protein-coding gene	gene with protein product		611261				17034760	Standard	NM_018271		Approved	FLJ10916	uc021vkr.1	Q86YJ6	OTTHUMG00000130314	ENST00000324166.5:c.571+1A>G	2.37:g.88474919A>G			B3KTB1|B5MDX8|B7WPF8|D9ZZB8|Q6P2M7|Q6PI27|Q9NV54	Silent	SNP	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like	p.G190	ENST00000324166.5	37	c.570	CCDS2002.2	2																																																																																			THNSL2	-	pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like	ENSG00000144115		0.502	THNSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THNSL2	HGNC	protein_coding	OTTHUMT00000252662.1	-	0.00	94	0	A	NM_018271	Silent	88474919	+1	tier1	-	no_errors	ENST00000324166	ensembl	human	known	74_37	silent	20.20	79	20	SNP	0.998	G
TLR10	81793	genome.wustl.edu	37	4	38775539	38775539	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr4:38775539T>A	ENST00000308973.4	-	4	2278	c.1673A>T	c.(1672-1674)aAc>aTc	p.N558I	TLR10_ENST00000506111.1_Missense_Mutation_p.N558I|TLR10_ENST00000361424.2_Missense_Mutation_p.N558I|TLR10_ENST00000508334.1_Missense_Mutation_p.N558I|TLR10_ENST00000507953.1_5'Flank	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	558	LRRCT.				immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of inflammatory response (GO:0050729)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TCCCCTTAGGTTTAAAGGGTA	0.398																																																	0													105.0	102.0	103.0					4																	38775539		2203	4300	6503	SO:0001583	missense	0			AF296673	CCDS3445.1	4p14	2009-11-23			ENSG00000174123	ENSG00000174123		"""CD molecules"""	15634	protein-coding gene	gene with protein product		606270				11267672	Standard	NM_030956		Approved	CD290	uc003gtk.3	Q9BXR5	OTTHUMG00000128578	ENST00000308973.4:c.1673A>T	4.37:g.38775539T>A	ENSP00000308925:p.Asn558Ile		A8K7L1|B3Y668|D1CS21|D1CS22|Q32MI7|Q32MI8|Q5FWG4|Q6UXL3	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.N558I	ENST00000308973.4	37	c.1673	CCDS3445.1	4	.	.	.	.	.	.	.	.	.	.	T	9.114	1.007351	0.19199	.	.	ENSG00000174123	ENST00000308973;ENST00000506111;ENST00000361424;ENST00000508334	T;T;T;T	0.26067	1.76;1.76;1.76;1.76	5.14	-2.85	0.05734	Cysteine-rich flanking region, C-terminal (1);	0.660815	0.13315	N	0.397209	T	0.20495	0.0493	L	0.49126	1.545	0.09310	N	1	B	0.33212	0.402	B	0.35813	0.211	T	0.23762	-1.0179	10	0.87932	D	0	.	6.0529	0.19794	0.0:0.3279:0.2375:0.4346	.	558	Q9BXR5	TLR10_HUMAN	I	558	ENSP00000308925:N558I;ENSP00000421483:N558I;ENSP00000354459:N558I;ENSP00000424923:N558I	ENSP00000308925:N558I	N	-	2	0	TLR10	38451934	0.000000	0.05858	0.981000	0.43875	0.501000	0.33797	-2.535000	0.00940	-0.374000	0.07967	0.477000	0.44152	AAC	TLR10	-	pirsf_Toll-like_receptor,smart_Cys-rich_flank_reg_C	ENSG00000174123		0.398	TLR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR10	HGNC	protein_coding	OTTHUMT00000250430.1	-	0.00	41	0	T			38775539	-1	tier1	-	no_errors	ENST00000308973	ensembl	human	known	74_37	missense	17.54	94	20	SNP	0.003	A
TP53	7157	genome.wustl.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr17:7577105G>T	ENST00000269305.4	-	8	1022	c.833C>A	c.(832-834)cCt>cAt	p.P278H	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.P278H|TP53_ENST00000455263.2_Missense_Mutation_p.P278H|TP53_ENST00000420246.2_Missense_Mutation_p.P278H|TP53_ENST00000359597.4_Missense_Mutation_p.P278H	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781). {ECO:0000269|PubMed:15489334}.|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901}.|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTCTCTCCCAGGACAGGCACA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	128	Substitution - Missense(107)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Unknown(2)	large_intestine(18)|lung(17)|skin(15)|upper_aerodigestive_tract(12)|haematopoietic_and_lymphoid_tissue(11)|breast(9)|kidney(8)|central_nervous_system(7)|oesophagus(7)|ovary(7)|stomach(4)|bone(4)|liver(3)|soft_tissue(2)|thyroid(1)|prostate(1)|urinary_tract(1)|autonomic_ganglia(1)	GRCh37	CM961376	TP53	M							72.0	63.0	66.0					17																	7577105		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.833C>A	17.37:g.7577105G>T	ENSP00000269305:p.Pro278His		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.P278H	ENST00000269305.4	37	c.833	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532212	0.85812	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99887	-7.53;-7.53;-7.53;-7.53;-7.53;-7.53	5.13	4.16	0.48862	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.050655	0.85682	D	0.000000	D	0.99891	0.9948	M	0.92459	3.31	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96442	0.9327	10	0.87932	D	0	-13.7877	11.4227	0.49991	0.0873:0.0:0.9127:0.0	.	278;278;278;278	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	278;278;278;278;278;267;146	ENSP00000352610:P278H;ENSP00000269305:P278H;ENSP00000398846:P278H;ENSP00000391127:P278H;ENSP00000391478:P278H;ENSP00000425104:P146H	ENSP00000269305:P278H	P	-	2	0	TP53	7517830	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.573000	0.98181	1.392000	0.46585	0.462000	0.41574	CCT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	42	0	G	NM_000546		7577105	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	80.56	7	29	SNP	1.000	T
TRHDE	29953	genome.wustl.edu	37	12	72680484	72680484	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr12:72680484C>T	ENST00000261180.4	+	2	899	c.803C>T	c.(802-804)tCg>tTg	p.S268L		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	268					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTCAGTTTTCGCCTACACAT	0.363																																																	0													124.0	115.0	118.0					12																	72680484		2203	4300	6503	SO:0001583	missense	0			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.803C>T	12.37:g.72680484C>T	ENSP00000261180:p.Ser268Leu		A5PL19|Q6UWJ4	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.S268L	ENST00000261180.4	37	c.803	CCDS9004.1	12	.	.	.	.	.	.	.	.	.	.	C	26.3	4.727881	0.89390	.	.	ENSG00000072657	ENST00000261180	T	0.02709	4.19	5.83	5.83	0.93111	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.125662	0.53938	D	0.000055	T	0.16128	0.0388	M	0.71036	2.16	0.58432	D	0.999998	D	0.89917	1.0	D	0.72982	0.979	T	0.00011	-1.2434	10	0.72032	D	0.01	.	20.1338	0.98010	0.0:1.0:0.0:0.0	.	268	Q9UKU6	TRHDE_HUMAN	L	268	ENSP00000261180:S268L	ENSP00000261180:S268L	S	+	2	0	TRHDE	70966751	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	6.240000	0.72363	2.770000	0.95276	0.655000	0.94253	TCG	TRHDE	-	pfam_Peptidase_M1_N	ENSG00000072657		0.363	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRHDE	HGNC	protein_coding	OTTHUMT00000405380.1	-	0.00	49	0	C	NM_013381		72680484	+1	tier1	-	no_errors	ENST00000261180	ensembl	human	known	74_37	missense	35.00	39	21	SNP	1.000	T
TRIM54	57159	genome.wustl.edu	37	2	27529352	27529352	+	Silent	SNP	C	C	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr2:27529352C>T	ENST00000380075.2	+	8	1360	c.1020C>T	c.(1018-1020)gcC>gcT	p.A340A	TRIM54_ENST00000296098.4_Silent_p.A382A	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	340					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGAGGTGGCCCCAGACGGAG	0.697																																																	0													15.0	19.0	17.0					2																	27529352		2190	4281	6471	SO:0001819	synonymous_variant	0			AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.1020C>T	2.37:g.27529352C>T			A5D8T7|Q53SY4|Q9BYV3	Silent	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.A382	ENST00000380075.2	37	c.1146	CCDS1746.2	2																																																																																			TRIM54	-	NULL	ENSG00000138100		0.697	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM54	HGNC	protein_coding	OTTHUMT00000214199.2	-	0.00	94	0	C	NM_187841		27529352	+1	tier1	-	no_errors	ENST00000296098	ensembl	human	known	74_37	silent	23.96	72	23	SNP	0.000	T
UBQLN3	50613	genome.wustl.edu	37	11	5529807	5529807	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr11:5529807C>A	ENST00000311659.4	-	2	1129	c.982G>T	c.(982-984)Gac>Tac	p.D328Y	HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_5'Flank|HBG2_ENST00000380252.1_5'Flank	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	328										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTAATGTCAGGTGCATCC	0.488																																					Ovarian(72;684 1260 12332 41642 52180)												0													86.0	77.0	80.0					11																	5529807		2201	4297	6498	SO:0001583	missense	0			AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.982G>T	11.37:g.5529807C>A	ENSP00000347997:p.Asp328Tyr		Q9NRE0	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.D328Y	ENST00000311659.4	37	c.982	CCDS7758.1	11	.	.	.	.	.	.	.	.	.	.	C	3.319	-0.139125	0.06669	.	.	ENSG00000175520	ENST00000311659	T	0.37411	1.2	5.0	5.0	0.66597	.	0.170363	0.28067	N	0.016739	T	0.28566	0.0707	L	0.29908	0.895	0.21499	N	0.999668	B	0.24533	0.105	B	0.20384	0.029	T	0.24119	-1.0169	10	0.62326	D	0.03	-32.137	13.9722	0.64247	0.0:1.0:0.0:0.0	.	328	Q9H347	UBQL3_HUMAN	Y	328	ENSP00000347997:D328Y	ENSP00000347997:D328Y	D	-	1	0	UBQLN3	5486383	0.122000	0.22280	0.158000	0.22627	0.007000	0.05969	2.092000	0.41700	2.748000	0.94277	0.591000	0.81541	GAC	UBQLN3	-	NULL	ENSG00000175520		0.488	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN3	HGNC	protein_coding	OTTHUMT00000143348.1	-	0.00	27	0	C	NM_017481		5529807	-1	tier1	-	no_errors	ENST00000311659	ensembl	human	known	74_37	missense	31.58	26	12	SNP	0.248	A
ZDHHC1	29800	genome.wustl.edu	37	16	67440127	67440127	+	Silent	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr16:67440127G>A	ENST00000348579.2	-	3	569	c.228C>T	c.(226-228)caC>caT	p.H76H		NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	76					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		GCACCCAGTGGTGAGGCAGGA	0.622																																																	0													53.0	40.0	44.0					16																	67440127		2198	4300	6498	SO:0001819	synonymous_variant	0			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.228C>T	16.37:g.67440127G>A			O15461	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.H76	ENST00000348579.2	37	c.228	CCDS10836.1	16																																																																																			ZDHHC1	-	NULL	ENSG00000159714		0.622	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC1	HGNC	protein_coding	OTTHUMT00000268845.1	-	0.00	53	0	G	NM_013304		67440127	-1	tier1	-	no_errors	ENST00000348579	ensembl	human	known	74_37	silent	30.51	41	18	SNP	0.997	A
VPS9D1	9605	genome.wustl.edu	37	16	89783106	89783106	+	Intron	SNP	C	C	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr16:89783106C>T	ENST00000389386.3	-	3	393				VPS9D1_ENST00000561976.1_Intron|VPS9D1-AS1_ENST00000562866.1_RNA|VPS9D1-AS1_ENST00000562298.1_RNA	NM_004913.2	NP_004904.2	Q9Y2B5	VP9D1_HUMAN	VPS9 domain containing 1						ATP synthesis coupled proton transport (GO:0015986)		GTPase activator activity (GO:0005096)|transporter activity (GO:0005215)										TGGGGGATGCCCCAGGAGAGC	0.627																																																	0													28.0	34.0	32.0					16																	89783106		1963	4148	6111	SO:0001627	intron_variant	0			AB018551	CCDS42220.1	16q24.3	2012-10-09	2012-10-09	2012-10-09	ENSG00000075399	ENSG00000075399			13526	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 7"""	C16orf7		10231027	Standard	NM_004913		Approved	ATP-BL	uc002fom.1	Q9Y2B5	OTTHUMG00000173219	ENST00000389386.3:c.268+31G>A	16.37:g.89783106C>T				RNA	SNP	-	NULL	ENST00000389386.3	37	NULL	CCDS42220.1	16																																																																																			VPS9D1-AS1	-	-	ENSG00000261373		0.627	VPS9D1-002	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	VPS9D1-AS1	HGNC	protein_coding	OTTHUMT00000422508.1	-	0.00	64	0	C	NM_004913		89783106	+1	tier1	-	no_errors	ENST00000562866	ensembl	human	known	74_37	rna	17.86	46	10	SNP	0.000	T
ZFHX4	79776	genome.wustl.edu	37	8	77775833	77775833	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr8:77775833A>G	ENST00000521891.2	+	11	10331	c.9883A>G	c.(9883-9885)Agc>Ggc	p.S3295G	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S3269G|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S3246G|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S3250G	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3246					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(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGCATGGAGAGCCTCTTTCC	0.532										HNSCC(33;0.089)																																							0													62.0	62.0	62.0					8																	77775833		1912	4115	6027	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.9883A>G	8.37:g.77775833A>G	ENSP00000430497:p.Ser3295Gly		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	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.S3295G	ENST00000521891.2	37	c.9883	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	A	14.78	2.636264	0.47049	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50001	0.77;0.82;0.76;0.78	5.03	5.03	0.67393	.	0.000000	0.52532	U	0.000061	T	0.33000	0.0848	L	0.31420	0.93	0.51767	D	0.999936	P	0.49559	0.925	B	0.41271	0.352	T	0.18808	-1.0325	10	0.06236	T	0.91	.	14.9381	0.70973	1.0:0.0:0.0:0.0	.	3250	Q86UP3-4	.	G	3295;3279;3250;3246;3269	ENSP00000430497:S3295G;ENSP00000399605:S3250G;ENSP00000050961:S3246G;ENSP00000430848:S3269G	ENSP00000050961:S3246G	S	+	1	0	ZFHX4	77938388	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.031000	0.93731	2.131000	0.65755	0.533000	0.62120	AGC	ZFHX4	-	NULL	ENSG00000091656		0.532	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2		0.00	35	0	A	NM_024721		77775833	+1			no_errors	ENST00000521891	ensembl	human	known	74_37	missense	10.26	35	4	SNP	1.000	G
ZNF804B	219578	genome.wustl.edu	37	7	88962883	88962883	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr7:88962883G>A	ENST00000333190.4	+	4	1196	c.587G>A	c.(586-588)cGt>cAt	p.R196H		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	196							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCAGACAGGCGTTGTTTGTTT	0.403										HNSCC(36;0.09)																																							0													104.0	101.0	102.0					7																	88962883		2203	4300	6503	SO:0001583	missense	0			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.587G>A	7.37:g.88962883G>A	ENSP00000329638:p.Arg196His		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.R196H	ENST00000333190.4	37	c.587	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	G	2.002	-0.429225	0.04701	.	.	ENSG00000182348	ENST00000333190	T	0.04809	3.55	5.24	-1.47	0.08772	.	0.722275	0.13096	N	0.414180	T	0.01523	0.0049	N	0.02539	-0.55	0.09310	N	0.999991	B	0.09022	0.002	B	0.04013	0.001	T	0.48115	-0.9063	10	0.10636	T	0.68	-0.4311	4.7335	0.12977	0.4322:0.0:0.3214:0.2464	.	196	A4D1E1	Z804B_HUMAN	H	196	ENSP00000329638:R196H	ENSP00000329638:R196H	R	+	2	0	ZNF804B	88800819	0.000000	0.05858	0.006000	0.13384	0.645000	0.38454	-0.051000	0.11885	-0.152000	0.11156	-0.142000	0.14014	CGT	ZNF804B	-	NULL	ENSG00000182348		0.403	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	-	0.00	20	0	G	NM_181646		88962883	+1	tier1	-	no_errors	ENST00000333190	ensembl	human	known	74_37	missense	47.83	12	11	SNP	0.077	A
ZNF775	285971	genome.wustl.edu	37	7	150095050	150095050	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr7:150095050G>T	ENST00000329630.5	+	3	1588	c.1481G>T	c.(1480-1482)cGc>cTc	p.R494L		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	494					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGGCACCGGCGCAACCACACA	0.721																																																	0													12.0	14.0	13.0					7																	150095050		2172	4256	6428	SO:0001583	missense	0			BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1481G>T	7.37:g.150095050G>T	ENSP00000330838:p.Arg494Leu		Q8IY24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R494L	ENST00000329630.5	37	c.1481	CCDS43678.1	7	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837811	0.71373	.	.	ENSG00000196456	ENST00000329630	T	0.25085	1.82	3.95	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.36690	0.0976	N	0.26162	0.8	0.29466	N	0.857431	D	0.89917	1.0	D	0.85130	0.997	T	0.14392	-1.0474	8	.	.	.	.	13.5558	0.61759	0.0:0.0:1.0:0.0	.	494	Q96BV0	ZN775_HUMAN	L	494	ENSP00000330838:R494L	.	R	+	2	0	ZNF775	149725983	0.049000	0.20398	1.000000	0.80357	0.980000	0.70556	2.240000	0.43088	2.044000	0.60594	0.563000	0.77884	CGC	ZNF775	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196456		0.721	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF775	HGNC	protein_coding	OTTHUMT00000350679.1	-	0.00	29	0	G	NM_173680		150095050	+1	tier1	-	no_errors	ENST00000329630	ensembl	human	known	74_37	missense	60.00	12	18	SNP	1.000	T
ZNF831	128611	genome.wustl.edu	37	20	57766999	57766999	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr20:57766999G>A	ENST00000371030.2	+	1	925	c.925G>A	c.(925-927)Gcc>Acc	p.A309T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	309							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTCGCCGACCGCCGGGAAGCC	0.701																																																	0													15.0	20.0	18.0					20																	57766999		1882	4028	5910	SO:0001583	missense	0			AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.925G>A	20.37:g.57766999G>A	ENSP00000360069:p.Ala309Thr		Q5TDR4|Q8TCP0	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A309T	ENST00000371030.2	37	c.925	CCDS42894.1	20	.	.	.	.	.	.	.	.	.	.	G	9.808	1.182433	0.21870	.	.	ENSG00000124203	ENST00000371030	T	0.04862	3.54	4.2	2.19	0.27852	.	.	.	.	.	T	0.05823	0.0152	L	0.44542	1.39	0.09310	N	1	B	0.27351	0.176	B	0.15484	0.013	T	0.34378	-0.9831	9	0.72032	D	0.01	.	5.6877	0.17813	0.0927:0.0:0.5605:0.3469	.	309	Q5JPB2	ZN831_HUMAN	T	309	ENSP00000360069:A309T	ENSP00000360069:A309T	A	+	1	0	ZNF831	57200394	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.061000	0.14366	0.236000	0.21180	0.655000	0.94253	GCC	ZNF831	-	NULL	ENSG00000124203		0.701	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF831	HGNC	protein_coding	OTTHUMT00000079916.2		0.00	32	0	G	NM_178457		57766999	+1			no_errors	ENST00000371030	ensembl	human	novel	74_37	missense	12.12	58	8	SNP	0.000	A
ZNF833P	401898	genome.wustl.edu	37	19	11759238	11759238	+	lincRNA	SNP	G	G	A			TCGA-IG-A5S3-01A-11D-A28B-09	TCGA-IG-A5S3-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	63fe54fd-11df-4cdc-88a7-bb109a7538f3	7f7a6dc2-630a-4ae3-be7d-c4153ea50472	g.chr19:11759238G>A	ENST00000344893.3	+	0	357					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						TGCTGGATCCGTCCCAGAAGA	0.458																																																	0																																												0			BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11759238G>A			B2RPA0	RNA	SNP	-	NULL	ENST00000344893.3	37	NULL		19																																																																																			ZNF833P	-	-	ENSG00000197332		0.458	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	ZNF833P	HGNC	lincRNA	OTTHUMT00000458891.1	-	0.00	159	0	G	NM_001013691		11759238	+1	tier1	-	no_errors	ENST00000344893	ensembl	human	known	74_37	rna	54.55	30	36	SNP	0.003	A
