#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
ABCA12	26154	genome.wustl.edu	37	2	215866355	215866355	+	Silent	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:215866355A>G	ENST00000272895.7	-	21	3009	c.2790T>C	c.(2788-2790)atT>atC	p.I930I	ABCA12_ENST00000389661.4_Silent_p.I612I	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	930					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTGCTGCCTGAATACGGTCAT	0.378																																					Ovarian(66;664 1488 5121 34295)												0													175.0	167.0	170.0					2																	215866355		2203	4300	6503	SO:0001819	synonymous_variant	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.2790T>C	2.37:g.215866355A>G			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I930	ENST00000272895.7	37	c.2790	CCDS33372.1	2																																																																																			ABCA12	-	NULL	ENSG00000144452		0.378	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	-	0.00	82	0	A	NM_173076		215866355	-1	tier1	-	no_errors	ENST00000272895	ensembl	human	known	74_37	silent	27.14	102	38	SNP	1.000	G
ABCA12	26154	genome.wustl.edu	37	2	215890500	215890500	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:215890500delT	ENST00000272895.7	-	11	1403	c.1184delA	c.(1183-1185)aatfs	p.N395fs	AC072062.3_ENST00000437897.3_RNA|ABCA12_ENST00000389661.4_Frame_Shift_Del_p.N77fs|AC072062.3_ENST00000595058.1_RNA|AC072062.3_ENST00000419251.1_RNA|AC072062.3_ENST00000602182.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	395					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GAGTCTTAGATTTTCTGTAAA	0.353																																					Ovarian(66;664 1488 5121 34295)												0													64.0	65.0	65.0					2																	215890500		2203	4300	6503	SO:0001589	frameshift_variant	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.1184delA	2.37:g.215890500delT	ENSP00000272895:p.Asn395fs		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Frame_Shift_Del	DEL	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.N395fs	ENST00000272895.7	37	c.1184	CCDS33372.1	2																																																																																			ABCA12	-	NULL	ENSG00000144452		0.353	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1		0.00	50	0	T	NM_173076		215890500	-1	tier1		no_errors	ENST00000272895	ensembl	human	known	74_37	frame_shift_del	17.74	51	11	DEL	1.000	-
ABCA6	23460	genome.wustl.edu	37	17	67097074	67097074	+	Splice_Site	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:67097074T>C	ENST00000284425.2	-	22	3050	c.2876A>G	c.(2875-2877)gAt>gGt	p.D959G	ABCA6_ENST00000446604.2_5'Flank|MIR4524B_ENST00000581569.1_RNA	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	959					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAATCTATAATCCTTAAAACA	0.303																																																	0													66.0	69.0	68.0					17																	67097074		2202	4298	6500	SO:0001630	splice_region_variant	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.2875-1A>G	17.37:g.67097074T>C			Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.D959G	ENST00000284425.2	37	c.2876	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	T	9.334	1.061181	0.19987	.	.	ENSG00000154262	ENST00000284425	D	0.87029	-2.2	4.75	2.44	0.29823	.	0.000000	0.52532	D	0.000071	D	0.83751	0.5322	M	0.71296	2.17	0.80722	D	1	B	0.18310	0.027	B	0.26969	0.075	T	0.77392	-0.2605	10	0.66056	D	0.02	.	4.4733	0.11722	0.0:0.1094:0.1964:0.6943	.	959	Q8N139	ABCA6_HUMAN	G	959	ENSP00000284425:D959G	ENSP00000284425:D959G	D	-	2	0	ABCA6	64608669	0.997000	0.39634	0.993000	0.49108	0.583000	0.36354	0.911000	0.28584	0.381000	0.24851	0.477000	0.44152	GAT	ABCA6	-	NULL	ENSG00000154262		0.303	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	-	0.00	19	0	T	NM_080284	Missense_Mutation	67097074	-1	tier1	-	no_errors	ENST00000284425	ensembl	human	known	74_37	missense	25.81	22	8	SNP	0.999	C
ABCC1	4363	genome.wustl.edu	37	16	16162026	16162026	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:16162026C>T	ENST00000399410.3	+	13	1866	c.1691C>T	c.(1690-1692)aCa>aTa	p.T564I	ABCC1_ENST00000346370.5_Missense_Mutation_p.T564I|ABCC1_ENST00000345148.5_Missense_Mutation_p.T564I|ABCC1_ENST00000349029.5_Missense_Mutation_p.T564I|ABCC1_ENST00000351154.5_Missense_Mutation_p.T564I|ABCC1_ENST00000399408.2_Missense_Mutation_p.T564I	NM_004996.3	NP_004987.2	P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	564	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				arachidonic acid metabolic process (GO:0019369)|ATP catabolic process (GO:0006200)|cobalamin metabolic process (GO:0009235)|leukotriene metabolic process (GO:0006691)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Abiraterone(DB05812)|Aminohippurate(DB00345)|Amprenavir(DB00701)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Diclofenac(DB00586)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Epirubicin(DB00445)|Erythromycin(DB00199)|Etoposide(DB00773)|Fluorescein(DB00693)|Glutathione(DB00143)|Glyburide(DB01016)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Methotrexate(DB00563)|Mifepristone(DB00834)|Mitoxantrone(DB01204)|Ofloxacin(DB01165)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Probenecid(DB01032)|Progesterone(DB00396)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sulfinpyrazone(DB01138)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Zoledronate(DB00399)	GCCTTGTGCACATTTGCCGTC	0.567																																																	0													166.0	162.0	163.0					16																	16162026		2127	4238	6365	SO:0001583	missense	0			L05628	CCDS42122.1	16p13.1	2012-03-14			ENSG00000103222	ENSG00000103222		"""ATP binding cassette transporters / subfamily C"""	51	protein-coding gene	gene with protein product		158343	"""multidrug resistance associated protein 1"""	MRP, MRP1		8098549, 1360704	Standard	NM_004996		Approved	GS-X	uc010bvi.3	P33527	OTTHUMG00000048267	ENST00000399410.3:c.1691C>T	16.37:g.16162026C>T	ENSP00000382342:p.Thr564Ile		A3RJX2|C9JPJ4|O14819|O43333|P78419|Q59GI9|Q9UQ97|Q9UQ99|Q9UQA0	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.T564I	ENST00000399410.3	37	c.1691	CCDS42122.1	16	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265399	0.40095	.	.	ENSG00000103222	ENST00000399410;ENST00000399408;ENST00000346370;ENST00000351154;ENST00000345148;ENST00000349029;ENST00000536381	D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	4.46	4.46	0.54185	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.049813	0.85682	D	0.000000	D	0.94915	0.8356	M	0.87038	2.855	0.51233	D	0.999916	D;P;D;D;D;D	0.89917	1.0;0.94;1.0;1.0;1.0;0.999	D;P;D;D;D;D	0.85130	0.984;0.755;0.997;0.989;0.994;0.989	D	0.95886	0.8903	10	0.87932	D	0	-11.1858	15.6775	0.77338	0.0:1.0:0.0:0.0	.	564;564;564;564;564;564	P33527-5;P33527-4;P33527-3;P33527-2;P33527;P33527-9	.;.;.;.;MRP1_HUMAN;.	I	564;564;564;564;564;564;238	ENSP00000382342:T564I;ENSP00000382340:T564I;ENSP00000263019:T564I;ENSP00000263017:T564I;ENSP00000263014:T564I;ENSP00000263016:T564I	ENSP00000263014:T564I	T	+	2	0	ABCC1	16069527	0.998000	0.40836	0.308000	0.25141	0.023000	0.10783	3.796000	0.55507	2.030000	0.59900	0.462000	0.41574	ACA	ABCC1	-	pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	ENSG00000103222		0.567	ABCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC1	HGNC	protein_coding	OTTHUMT00000109701.1	-	0.00	84	0	C	NM_004996		16162026	+1	tier1	-	no_errors	ENST00000399408	ensembl	human	known	74_37	missense	7.44	112	9	SNP	0.995	T
ABCC2	1244	genome.wustl.edu	37	10	101553428	101553428	+	Missense_Mutation	SNP	C	C	T	rs146452937		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:101553428C>T	ENST00000370449.4	+	4	567	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	ABCC2_ENST00000370434.1_Missense_Mutation_p.R152W|ABCC2_ENST00000496621.1_3'UTR	NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	152					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	GACTCTGATCCGGACACTCTT	0.453																																																	0													139.0	129.0	132.0					10																	101553428		2203	4300	6503	SO:0001583	missense	0			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.454C>T	10.37:g.101553428C>T	ENSP00000359478:p.Arg152Trp		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc	p.R152W	ENST00000370449.4	37	c.454	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735533	0.69189	.	.	ENSG00000023839	ENST00000370449;ENST00000370434	T;T	0.46451	0.87;0.87	5.68	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.65512	0.2698	M	0.80847	2.515	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.69003	-0.5260	10	0.59425	D	0.04	-14.0511	14.24	0.65952	0.2914:0.7086:0.0:0.0	.	152	Q92887	MRP2_HUMAN	W	152	ENSP00000359478:R152W;ENSP00000359463:R152W	ENSP00000359463:R152W	R	+	1	2	ABCC2	101543418	1.000000	0.71417	0.855000	0.33649	0.971000	0.66376	4.390000	0.59646	0.674000	0.31244	0.561000	0.74099	CGG	ABCC2	-	tigrfam_Multidrug-R_assoc	ENSG00000023839		0.453	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	-	0.00	50	0	C	NM_000392		101553428	+1	tier1	rs146452937	no_errors	ENST00000370449	ensembl	human	known	74_37	missense	7.94	58	5	SNP	1.000	T
ACSBG1	23205	genome.wustl.edu	37	15	78474909	78474909	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr15:78474909C>A	ENST00000258873.4	-	7	998	c.793G>T	c.(793-795)Gac>Tac	p.D265Y	ACSBG1_ENST00000541759.1_Missense_Mutation_p.D23Y|ACSBG1_ENST00000560817.1_Missense_Mutation_p.D23Y	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	265					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						ATGATGGCGTCCAGGGCTTCC	0.582																																																	0													81.0	69.0	73.0					15																	78474909		2196	4293	6489	SO:0001583	missense	0			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.793G>T	15.37:g.78474909C>A	ENSP00000258873:p.Asp265Tyr		B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.D265Y	ENST00000258873.4	37	c.793	CCDS10298.1	15	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845876	0.51164	.	.	ENSG00000103740	ENST00000258873;ENST00000541759	T;T	0.44881	1.4;0.91	5.35	4.42	0.53409	AMP-dependent synthetase/ligase (1);	0.182511	0.45606	D	0.000354	T	0.70378	0.3217	M	0.91354	3.2	0.45962	D	0.998783	P;P	0.46064	0.872;0.592	D;P	0.64877	0.93;0.863	T	0.77437	-0.2588	10	0.87932	D	0	-34.9143	14.2627	0.66094	0.1499:0.8501:0.0:0.0	.	261;265	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	Y	265;23	ENSP00000258873:D265Y;ENSP00000439955:D23Y	ENSP00000258873:D265Y	D	-	1	0	ACSBG1	76261964	1.000000	0.71417	0.655000	0.29622	0.091000	0.18340	3.942000	0.56614	1.243000	0.43853	0.650000	0.86243	GAC	ACSBG1	-	pfam_AMP-dep_Synth/Lig	ENSG00000103740		0.582	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG1	HGNC	protein_coding	OTTHUMT00000289802.2	-	0.00	44	0	C	NM_015162		78474909	-1	tier1	-	no_errors	ENST00000258873	ensembl	human	known	74_37	missense	37.14	22	13	SNP	1.000	A
C1orf146	388649	genome.wustl.edu	37	1	92694815	92694815	+	Intron	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:92694815C>T	ENST00000370375.3	+	2	109				ACTBP12_ENST00000594933.1_RNA|AL451010.1_ENST00000581900.1_RNA|C1orf146_ENST00000370373.2_Intron	NM_001012425.1	NP_001012425.1	Q5VVC0	CA146_HUMAN	chromosome 1 open reading frame 146											breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8		all_lung(203;0.00528)|Lung NSC(277;0.0193)		all cancers(265;0.00846)|Epithelial(280;0.0952)		ACTGTGTTGGCGTACAGGTCT	0.527																																																	0																																										SO:0001627	intron_variant	0				CCDS30772.1	1p22.1	2008-02-05			ENSG00000203910	ENSG00000203910			24032	protein-coding gene	gene with protein product						15496913	Standard	NM_001012425		Approved		uc001doq.3	Q5VVC0	OTTHUMG00000010285	ENST00000370375.3:c.-39-2124C>T	1.37:g.92694815C>T			Q5VVC4	RNA	SNP	-	NULL	ENST00000370375.3	37	NULL	CCDS30772.1	1																																																																																			ACTBP12	-	-	ENSG00000233125		0.527	C1orf146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTBP12	HGNC	protein_coding	OTTHUMT00000028364.1	-	0.00	110	0	C	NM_001012425		92694815	-1	tier1	-	no_errors	ENST00000594933	ensembl	human	known	74_37	rna	58.26	48	67	SNP	1.000	T
ADAM20	8748	genome.wustl.edu	37	14	70990815	70990816	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr14:70990815_70990816insT	ENST00000256389.3	-	2	1053_1054	c.809_810insA	c.(808-810)tatfs	p.Y270fs	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	220	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GAGAGAAAAGATATCTAATATT	0.381																																																	0																																										SO:0001589	frameshift_variant	0			AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.810dupA	14.37:g.70990816_70990816dupT	ENSP00000256389:p.Tyr270fs		Q6GTZ1|Q9UKJ9	Frame_Shift_Ins	INS	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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.Y270fs	ENST00000256389.3	37	c.810_809	CCDS32111.1	14																																																																																			ADAM20	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000134007		0.381	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM20	HGNC	protein_coding	OTTHUMT00000395004.2		0.00	13	0	-			70990816	-1	tier1		no_errors	ENST00000256389	ensembl	human	known	74_37	frame_shift_ins	21.05	15	4	INS	0.000:0.000	T
ADAMTS16	170690	genome.wustl.edu	37	5	5239960	5239960	+	Silent	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:5239960T>C	ENST00000274181.7	+	16	2583	c.2445T>C	c.(2443-2445)acT>acC	p.T815T		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	815	Spacer.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CGGGCACTACTTTCGACTACA	0.512																																																	0													100.0	98.0	98.0					5																	5239960		1867	4099	5966	SO:0001819	synonymous_variant	0			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2445T>C	5.37:g.5239960T>C			C6G490|Q8IVE2	Silent	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.T815	ENST00000274181.7	37	c.2445	CCDS43299.1	5																																																																																			ADAMTS16	-	pfam_ADAM_spacer1	ENSG00000145536		0.512	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	-	0.00	29	0	T	NM_139056		5239960	+1	tier1	-	no_errors	ENST00000274181	ensembl	human	known	74_37	silent	45.45	12	10	SNP	0.032	C
ADAMTS12	81792	genome.wustl.edu	37	5	33614421	33614421	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:33614421G>T	ENST00000504830.1	-	16	2784	c.2449C>A	c.(2449-2451)Ctt>Att	p.L817I	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.L732I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	817	Spacer 1.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCATTGTCAAGGCCATCTTTC	0.493										HNSCC(64;0.19)																																							0													227.0	163.0	185.0					5																	33614421		2203	4300	6503	SO:0001583	missense	0			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2449C>A	5.37:g.33614421G>T	ENSP00000422554:p.Leu817Ile		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.L817I	ENST00000504830.1	37	c.2449	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424549	0.25639	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.59772	0.24;0.25	5.73	2.55	0.30701	.	0.766295	0.12976	N	0.423740	T	0.43433	0.1247	L	0.38175	1.15	0.48571	D	0.99967	P;B	0.38078	0.617;0.437	B;B	0.34242	0.178;0.096	T	0.19516	-1.0303	10	0.33940	T	0.23	.	9.3895	0.38363	0.3756:0.0:0.6244:0.0	.	732;817	P58397-3;P58397	.;ATS12_HUMAN	I	817;732	ENSP00000422554:L817I;ENSP00000344847:L732I	ENSP00000344847:L732I	L	-	1	0	ADAMTS12	33650178	0.001000	0.12720	1.000000	0.80357	0.935000	0.57460	-0.059000	0.11731	0.767000	0.33267	0.561000	0.74099	CTT	ADAMTS12	-	NULL	ENSG00000151388		0.493	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	-	0.00	50	0	G	NM_030955		33614421	-1	tier1	-	no_errors	ENST00000504830	ensembl	human	known	74_37	missense	38.10	26	16	SNP	0.689	T
ADAMTS19	171019	genome.wustl.edu	37	5	129039996	129039996	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:129039996A>C	ENST00000274487.4	+	21	3351	c.3206A>C	c.(3205-3207)aAg>aCg	p.K1069T	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1069	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCAAGAAAGAAGTGTGTCCTC	0.458																																																	0													230.0	204.0	213.0					5																	129039996		2203	4300	6503	SO:0001583	missense	0			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3206A>C	5.37:g.129039996A>C	ENSP00000274487:p.Lys1069Thr			Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,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.K1069T	ENST00000274487.4	37	c.3206	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	A	14.47	2.545791	0.45280	.	.	ENSG00000145808	ENST00000274487	T	0.18174	2.23	4.45	4.45	0.53987	.	0.155451	0.43579	D	0.000556	T	0.29620	0.0739	L	0.38175	1.15	0.44247	D	0.99709	D	0.67145	0.996	D	0.69142	0.962	T	0.01409	-1.1362	9	.	.	.	.	14.7668	0.69646	1.0:0.0:0.0:0.0	.	1069	Q8TE59	ATS19_HUMAN	T	1069	ENSP00000274487:K1069T	.	K	+	2	0	ADAMTS19	129067895	1.000000	0.71417	0.998000	0.56505	0.325000	0.28411	4.902000	0.63266	2.226000	0.72624	0.533000	0.62120	AAG	ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145808		0.458	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	-	0.00	48	0	A	NM_133638		129039996	+1	tier1	-	no_errors	ENST00000274487	ensembl	human	known	74_37	missense	32.65	33	16	SNP	0.997	C
ADAMTS2	9509	genome.wustl.edu	37	5	178552066	178552066	+	Missense_Mutation	SNP	C	C	T	rs375191740		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:178552066C>T	ENST00000251582.7	-	19	2967	c.2866G>A	c.(2866-2868)Gcc>Acc	p.A956T		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	956	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CAGTGCTTGGCGTGCACGGAG	0.692																																																	0								C	THR/ALA	2,4404	4.2+/-10.8	0,2,2201	97.0	99.0	99.0		2866	2.9	1.0	5		99	0,8600		0,0,4300	no	missense	ADAMTS2	NM_014244.4	58	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign	956/1212	178552066	2,13004	2203	4300	6503	SO:0001583	missense	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2866G>A	5.37:g.178552066C>T	ENSP00000251582:p.Ala956Thr			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.A956T	ENST00000251582.7	37	c.2866	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	C	7.517	0.655858	0.14580	4.54E-4	0.0	ENSG00000087116	ENST00000251582	T	0.60672	0.17	5.31	2.86	0.33363	.	0.208574	0.33253	N	0.005108	T	0.34687	0.0906	N	0.20807	0.61	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.06625	-1.0816	10	0.12103	T	0.63	.	6.9104	0.24333	0.1328:0.0737:0.0:0.7935	.	956	O95450	ATS2_HUMAN	T	956	ENSP00000251582:A956T	ENSP00000251582:A956T	A	-	1	0	ADAMTS2	178484672	1.000000	0.71417	1.000000	0.80357	0.686000	0.39977	1.523000	0.35932	0.302000	0.22762	-0.294000	0.09567	GCC	ADAMTS2	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000087116		0.692	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0.00	64	0	C	NM_014244		178552066	-1	tier1	-	no_errors	ENST00000251582	ensembl	human	known	74_37	missense	28.57	25	10	SNP	1.000	T
ADCY4	196883	genome.wustl.edu	37	14	24788372	24788372	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr14:24788372G>A	ENST00000310677.4	-	24	3001	c.2888C>T	c.(2887-2889)gCc>gTc	p.A963V	ADCY4_ENST00000554068.2_Missense_Mutation_p.A963V|ADCY4_ENST00000418030.2_Missense_Mutation_p.A963V	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	963					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGGGCCACGGCAAATTCCAC	0.592																																																	0													126.0	122.0	123.0					14																	24788372		2203	4300	6503	SO:0001583	missense	0			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2888C>T	14.37:g.24788372G>A	ENSP00000312126:p.Ala963Val		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A963V	ENST00000310677.4	37	c.2888	CCDS9627.1	14	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662559	0.67700	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.58210	0.35;0.35;0.35	4.79	4.79	0.61399	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.151368	0.30840	N	0.008774	T	0.60843	0.2300	M	0.90082	3.085	0.80722	D	1	P	0.39624	0.681	B	0.36378	0.223	T	0.72308	-0.4332	10	0.72032	D	0.01	.	15.3891	0.74729	0.0:0.0:1.0:0.0	.	963	Q8NFM4	ADCY4_HUMAN	V	963	ENSP00000312126:A963V;ENSP00000452250:A963V;ENSP00000393177:A963V	ENSP00000312126:A963V	A	-	2	0	ADCY4	23858212	1.000000	0.71417	0.964000	0.40570	0.736000	0.42039	6.361000	0.73070	2.478000	0.83669	0.655000	0.94253	GCC	ADCY4	-	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	ENSG00000129467		0.592	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4		0.00	25	0	G			24788372	-1			no_errors	ENST00000310677	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	A
ADRA1D	146	genome.wustl.edu	37	20	4202559	4202559	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:4202559C>T	ENST00000379453.4	-	2	1446	c.1330G>A	c.(1330-1332)Ggc>Agc	p.G444S		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	444					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	TGGCGCAGGCCGCTGGTGGAG	0.786																																																	0													1.0	2.0	2.0					20																	4202559		1261	2716	3977	SO:0001583	missense	0			U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1330G>A	20.37:g.4202559C>T	ENSP00000368766:p.Gly444Ser		Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_ADRA1D_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,pfscan_GPCR_Rhodpsn_7TM	p.G444S	ENST00000379453.4	37	c.1330	CCDS13079.1	20	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746469	0.30955	.	.	ENSG00000171873	ENST00000379453	T	0.58506	0.33	3.64	0.318	0.15867	.	3.901960	0.01318	U	0.010853	T	0.36771	0.0979	N	0.16478	0.41	0.21984	N	0.99943	B	0.16166	0.016	B	0.06405	0.002	T	0.10590	-1.0623	10	0.10636	T	0.68	.	3.4197	0.07389	0.1798:0.4956:0.0:0.3246	.	444	P25100	ADA1D_HUMAN	S	444	ENSP00000368766:G444S	ENSP00000368766:G444S	G	-	1	0	ADRA1D	4150559	0.780000	0.28664	0.000000	0.03702	0.053000	0.15095	0.838000	0.27572	-0.036000	0.13669	0.585000	0.79938	GGC	ADRA1D	-	NULL	ENSG00000171873		0.786	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA1D	HGNC	protein_coding	OTTHUMT00000077812.2	-	0.00	17	0	C	NM_000678		4202559	-1	tier1	-	no_errors	ENST00000379453	ensembl	human	known	74_37	missense	45.45	12	10	SNP	0.396	T
AGTR2	186	genome.wustl.edu	37	X	115303887	115303887	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:115303887A>C	ENST00000371906.4	+	3	544	c.354A>C	c.(352-354)aaA>aaC	p.K118N		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	118					aldosterone secretion (GO:0035932)|angiotensin-activated signaling pathway (GO:0038166)|blood vessel remodeling (GO:0001974)|brain development (GO:0007420)|brain renin-angiotensin system (GO:0002035)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell surface receptor signaling pathway (GO:0007166)|cellular response to dexamethasone stimulus (GO:0071549)|cellular sodium ion homeostasis (GO:0006883)|cerebellar cortex development (GO:0021695)|dopamine biosynthetic process (GO:0042416)|exploration behavior (GO:0035640)|extracellular negative regulation of signal transduction (GO:1900116)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of heart rate (GO:0010459)|negative regulation of icosanoid secretion (GO:0032304)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of norepinephrine secretion (GO:0010700)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|regulation of blood pressure (GO:0008217)|regulation of metanephros size (GO:0035566)|regulation of systemic arterial blood pressure by circulatory renin-angiotensin (GO:0001991)|regulation of transcription factor import into nucleus (GO:0042990)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to organonitrogen compound (GO:0010243)|vasodilation by angiotensin involved in regulation of systemic arterial blood pressure (GO:0002033)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)|peptide hormone binding (GO:0017046)|receptor antagonist activity (GO:0048019)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24					Tasosartan(DB01349)	TGATGTGCAAAGTTTTTGGTT	0.408																																																	0													191.0	184.0	186.0					X																	115303887		2203	4300	6503	SO:0001583	missense	0			AY324607	CCDS14569.1	Xq22-q23	2012-08-08			ENSG00000180772	ENSG00000180772		"""GPCR / Class A : Angiotensin receptors"""	338	protein-coding gene	gene with protein product		300034	"""angiotensin receptor 2"""			1550596	Standard	NM_000686		Approved	AT2, MRX88	uc004eqh.4	P50052	OTTHUMG00000022243	ENST00000371906.4:c.354A>C	X.37:g.115303887A>C	ENSP00000360973:p.Lys118Asn		B2R9V1|Q13016|Q6FGY7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_ATII_AT2_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.K118N	ENST00000371906.4	37	c.354	CCDS14569.1	X	.	.	.	.	.	.	.	.	.	.	A	14.51	2.556372	0.45487	.	.	ENSG00000180772	ENST00000371906	T	0.73258	-0.73	4.48	3.32	0.38043	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83608	0.5291	M	0.89095	3.005	0.44395	D	0.997306	D	0.89917	1.0	D	0.97110	1.0	T	0.82764	-0.0296	10	0.87932	D	0	-7.7232	7.2835	0.26324	0.8926:0.0:0.1074:0.0	.	118	P50052	AGTR2_HUMAN	N	118	ENSP00000360973:K118N	ENSP00000360973:K118N	K	+	3	2	AGTR2	115217915	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	1.497000	0.35649	0.591000	0.29711	0.412000	0.27726	AAA	AGTR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000180772		0.408	AGTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGTR2	HGNC	protein_coding	OTTHUMT00000057984.1	-	0.00	22	0	A	NM_000686		115303887	+1	tier1	-	no_errors	ENST00000371906	ensembl	human	known	74_37	missense	30.23	30	13	SNP	0.988	C
AHDC1	27245	genome.wustl.edu	37	1	27878147	27878147	+	Silent	SNP	G	G	A	rs147707628	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:27878147G>A	ENST00000247087.5	-	5	1076	c.480C>T	c.(478-480)ccC>ccT	p.P160P	AHDC1_ENST00000374011.2_Silent_p.P160P			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	160	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTAGGTCGCCGGGTGGCGGTG	0.652													G|||	2	0.000399361	0.0015	0.0	5008	,	,		13401	0.0		0.0	False		,,,				2504	0.0																0								G		1,4405	2.1+/-5.4	0,1,2202	98.0	105.0	103.0		480	-0.7	0.3	1	dbSNP_134	103	15,8583	11.2+/-40.8	0,15,4284	no	coding-synonymous	AHDC1	NM_001029882.2		0,16,6486	AA,AG,GG		0.1745,0.0227,0.123		160/1604	27878147	16,12988	2203	4299	6502	SO:0001819	synonymous_variant	0			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.480C>T	1.37:g.27878147G>A			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	NULL	p.P160	ENST00000247087.5	37	c.480	CCDS30652.1	1																																																																																			AHDC1	-	NULL	ENSG00000126705		0.652	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHDC1	HGNC	protein_coding	OTTHUMT00000009523.3		0.00	23	0	G			27878147	-1			no_errors	ENST00000247087	ensembl	human	known	74_37	silent	16.67	19	4	SNP	0.224	A
AKNA	80709	genome.wustl.edu	37	9	117108226	117108226	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr9:117108226C>T	ENST00000307564.4	-	18	3739	c.3578G>A	c.(3577-3579)aGt>aAt	p.S1193N	AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000223791.3_Missense_Mutation_p.S653N|AKNA_ENST00000374079.4_Missense_Mutation_p.S138N|AKNA_ENST00000374075.5_Missense_Mutation_p.S1112N|AKNA_ENST00000374088.3_Missense_Mutation_p.S1193N	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1193					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGCCTGTGGACTGTCCTTGGT	0.592																																																	0													86.0	76.0	80.0					9																	117108226		2203	4300	6503	SO:0001583	missense	0			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.3578G>A	9.37:g.117108226C>T	ENSP00000303769:p.Ser1193Asn		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.S1193N	ENST00000307564.4	37	c.3578	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	C	11.67	1.707407	0.30322	.	.	ENSG00000106948	ENST00000307564;ENST00000374079;ENST00000320310;ENST00000374088;ENST00000223791;ENST00000374075	T;T;T;T;T	0.19394	2.55;2.15;2.55;2.32;2.54	4.57	1.59	0.23543	.	0.446620	0.21164	N	0.079110	T	0.15349	0.0370	M	0.65975	2.015	0.09310	N	1	P;P	0.42518	0.675;0.782	B;B	0.30495	0.054;0.116	T	0.18335	-1.0340	10	0.26408	T	0.33	0.4088	6.7835	0.23659	0.0:0.674:0.0:0.326	.	1193;1112	Q7Z591;Q7Z591-2	AKNA_HUMAN;.	N	1193;138;205;1193;653;1112	ENSP00000303769:S1193N;ENSP00000363192:S138N;ENSP00000363201:S1193N;ENSP00000223791:S653N;ENSP00000363188:S1112N	ENSP00000223791:S653N	S	-	2	0	AKNA	116148047	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.231000	0.09069	0.206000	0.20587	0.561000	0.74099	AGT	AKNA	-	NULL	ENSG00000106948		0.592	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	-	0.00	36	0	C	NM_030767		117108226	-1	tier1	-	no_errors	ENST00000307564	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.000	T
ALDH18A1	5832	genome.wustl.edu	37	10	97380872	97380872	+	Silent	SNP	G	G	T	rs537411575		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:97380872G>T	ENST00000371224.2	-	12	1520	c.1383C>A	c.(1381-1383)gcC>gcA	p.A461A	ALDH18A1_ENST00000371221.3_Silent_p.A459A	NM_002860.3	NP_002851.2	P54886	P5CS_HUMAN	aldehyde dehydrogenase 18 family, member A1	461	Gamma-glutamyl phosphate reductase.				cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|glutamate metabolic process (GO:0006536)|L-proline biosynthetic process (GO:0055129)|ornithine biosynthetic process (GO:0006592)|proline biosynthetic process (GO:0006561)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate 5-kinase activity (GO:0004349)|glutamate-5-semialdehyde dehydrogenase activity (GO:0004350)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)		CCAAGTTTTTGGCGATTCGGG	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		12706	0.0		0.001	False		,,,				2504	0.0																0													81.0	73.0	76.0					10																	97380872		2203	4300	6503	SO:0001819	synonymous_variant	0			X94453	CCDS7443.1, CCDS31257.1	10q24.3-q24.6	2004-08-12	2004-08-12	2004-08-12	ENSG00000059573	ENSG00000059573		"""Aldehyde dehydrogenases"""	9722	protein-coding gene	gene with protein product		138250	"""pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)"""	GSAS, PYCS		8921385	Standard	XM_006717933		Approved	P5CS	uc001kkz.3	P54886	OTTHUMG00000018815	ENST00000371224.2:c.1383C>A	10.37:g.97380872G>T			B2R5Q4|B7Z350|B7Z5X8|B7ZLP1|D3DR44|O95952|Q3KQU2|Q5T566|Q5T567|Q9UM72	Silent	SNP	pfam_Asp/Glu/Uridylate_kinase,pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,superfamily_Asp/Glu/Uridylate_kinase,pirsf_P5_carboxy_syn,prints_Glu/AcGlu_kinase,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	p.A461	ENST00000371224.2	37	c.1383	CCDS7443.1	10																																																																																			ALDH18A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_P5_carboxy_syn,tigrfam_P5_carboxy_syn,tigrfam_G-glutamylP_reductase	ENSG00000059573		0.542	ALDH18A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALDH18A1	HGNC	protein_coding	OTTHUMT00000049552.1		0.00	56	0	G	NM_002860		97380872	-1			no_errors	ENST00000371224	ensembl	human	known	74_37	silent	7.41	50	4	SNP	1.000	T
ALDH3A1	218	genome.wustl.edu	37	17	19644521	19644521	+	Missense_Mutation	SNP	C	C	T	rs145505711		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:19644521C>T	ENST00000457500.2	-	5	1021	c.692G>A	c.(691-693)cGc>cAc	p.R231H	ALDH3A1_ENST00000494157.2_Missense_Mutation_p.R158H|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.R231H|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.R231H|ALDH3A1_ENST00000485231.1_5'Flank|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.R231H	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	231					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)	p.R231H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		CCAGGCGATGCGTCTGTGAGA	0.547																																																	1	Substitution - Missense(1)	large_intestine(1)						C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	79.0	72.0	74.0		692,692,692	5.4	1.0	17	dbSNP_134	74	5,8595	4.3+/-15.6	0,5,4295	no	missense,missense,missense	ALDH3A1	NM_000691.4,NM_001135167.1,NM_001135168.1	29,29,29	0,6,6497	TT,TC,CC		0.0581,0.0227,0.0461	probably-damaging,probably-damaging,probably-damaging	231/454,231/454,231/454	19644521	6,13000	2203	4300	6503	SO:0001583	missense	0			M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.692G>A	17.37:g.19644521C>T	ENSP00000411821:p.Arg231His		A8K828|Q9BT37	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.R231H	ENST00000457500.2	37	c.692	CCDS11212.1	17	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599220	0.87055	2.27E-4	5.81E-4	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.36	5.36	0.76844	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.050011	0.85682	N	0.000000	D	0.91626	0.7354	H	0.94264	3.515	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93755	0.7062	10	0.87932	D	0	0.9604	18.0827	0.89445	0.0:1.0:0.0:0.0	.	231;348;231	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	H	231;231;289;231;231;158;231	ENSP00000225740:R231H;ENSP00000378923:R231H;ENSP00000388469:R231H;ENSP00000411821:R231H;ENSP00000389766:R231H	ENSP00000225740:R231H	R	-	2	0	ALDH3A1	19585113	1.000000	0.71417	0.995000	0.50966	0.483000	0.33249	7.272000	0.78516	2.533000	0.85409	0.655000	0.94253	CGC	ALDH3A1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000108602		0.547	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ALDH3A1	HGNC	protein_coding	OTTHUMT00000132265.4		0.00	33	0	C	NM_000691		19644521	-1			no_errors	ENST00000225740	ensembl	human	known	74_37	missense	8.33	33	3	SNP	1.000	T
ANO3	63982	genome.wustl.edu	37	11	26563506	26563506	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:26563506A>C	ENST00000256737.3	+	11	1897	c.1045A>C	c.(1045-1047)Agt>Cgt	p.S349R	ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000531568.1_Missense_Mutation_p.S203R|ANO3_ENST00000525139.1_Missense_Mutation_p.S333R|ANO3_ENST00000537978.1_Missense_Mutation_p.S333R	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	349					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						AGCCTACAAAAGTAGCCAGCC	0.398																																																	0													66.0	63.0	64.0					11																	26563506		2203	4299	6502	SO:0001583	missense	0			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1045A>C	11.37:g.26563506A>C	ENSP00000256737:p.Ser349Arg		B7Z3F5	Missense_Mutation	SNP	pfam_Anoctamin	p.S349R	ENST00000256737.3	37	c.1045	CCDS31447.1	11	.	.	.	.	.	.	.	.	.	.	A	16.90	3.250970	0.59212	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.68192	0.2974	L	0.43152	1.355	0.80722	D	1	P;D	0.62365	0.955;0.991	P;D	0.64321	0.873;0.924	T	0.62923	-0.6751	10	0.11182	T	0.66	.	15.3535	0.74409	1.0:0.0:0.0:0.0	.	251;349	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	R	333;333;349;251;203	ENSP00000440737:S333R;ENSP00000432576:S333R;ENSP00000256737:S349R;ENSP00000432394:S203R	ENSP00000256737:S349R	S	+	1	0	ANO3	26520082	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.260000	0.95568	2.034000	0.60081	0.460000	0.39030	AGT	ANO3	-	NULL	ENSG00000134343		0.398	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	HGNC	protein_coding	OTTHUMT00000387806.1	-	0.00	25	0	A	NM_031418		26563506	+1	tier1	-	no_errors	ENST00000256737	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	C
ANKK1	255239	genome.wustl.edu	37	11	113264253	113264253	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:113264253A>C	ENST00000303941.3	+	2	330	c.236A>C	c.(235-237)aAg>aCg	p.K79T		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AAGAAGATCAAGTTTCAGCAC	0.498																																																	0													108.0	106.0	107.0					11																	113264253		1970	4165	6135	SO:0001583	missense	0			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.236A>C	11.37:g.113264253A>C	ENSP00000306678:p.Lys79Thr			Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom	p.K79T	ENST00000303941.3	37	c.236	CCDS44734.1	11	.	.	.	.	.	.	.	.	.	.	A	16.25	3.070942	0.55646	.	.	ENSG00000170209	ENST00000303941	T	0.35789	1.29	4.84	4.84	0.62591	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000027	T	0.50599	0.1625	L	0.41079	1.255	0.50313	D	0.999864	D	0.89917	1.0	D	0.97110	1.0	T	0.53056	-0.8492	10	0.72032	D	0.01	-33.1751	13.7415	0.62852	1.0:0.0:0.0:0.0	.	79	Q8NFD2	ANKK1_HUMAN	T	79	ENSP00000306678:K79T	ENSP00000306678:K79T	K	+	2	0	ANKK1	112769463	1.000000	0.71417	1.000000	0.80357	0.084000	0.17831	6.559000	0.73946	2.016000	0.59253	0.379000	0.24179	AAG	ANKK1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000170209		0.498	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKK1	HGNC	protein_coding	OTTHUMT00000395830.1	-	0.00	78	0	A	NM_178510		113264253	+1	tier1	-	no_errors	ENST00000303941	ensembl	human	known	74_37	missense	14.06	55	9	SNP	1.000	C
APC	324	genome.wustl.edu	37	5	112175663	112175663	+	Missense_Mutation	SNP	C	C	T	rs386833393|rs143796828	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:112175663C>T	ENST00000457016.1	+	16	4752	c.4372C>T	c.(4372-4374)Cct>Tct	p.P1458S	APC_ENST00000508376.2_Missense_Mutation_p.P1458S|APC_ENST00000257430.4_Missense_Mutation_p.P1458S|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1458	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.P1458fs*15(2)|p.K1454fs*3(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AAATAAAGCACCTACTGCTGA	0.453		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	5	Deletion - Frameshift(3)|Unknown(1)|Complex - frameshift(1)	large_intestine(2)|thyroid(1)|soft_tissue(1)|skin(1)						C	SER/PRO,SER/PRO,SER/PRO	0,4404		0,0,2202	90.0	83.0	85.0		4372,4372,4318	5.3	0.1	5	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense	APC	NM_000038.5,NM_001127510.2,NM_001127511.2	74,74,74	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	1458/2844,1458/2844,1440/2826	112175663	2,13002	2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4372C>T	5.37:g.112175663C>T	ENSP00000413133:p.Pro1458Ser		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.P1458S	ENST00000457016.1	37	c.4372	CCDS4107.1	5	.	.	.	.	.	.	.	.	.	.	C	0.266	-0.996197	0.02145	0.0	2.33E-4	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.89343	-2.5;-2.5;-2.5	6.16	5.3	0.74995	.	0.368961	0.29653	N	0.011553	T	0.76392	0.3981	N	0.14661	0.345	0.21445	N	0.999686	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.60403	-0.7270	9	.	.	.	-13.2479	6.2938	0.21075	0.1336:0.6681:0.0:0.1983	.	1460;1458	Q4LE70;P25054	.;APC_HUMAN	S	1458	ENSP00000413133:P1458S;ENSP00000257430:P1458S;ENSP00000427089:P1458S	.	P	+	1	0	APC	112203562	0.000000	0.05858	0.096000	0.21009	0.043000	0.13939	-0.354000	0.07681	1.623000	0.50342	0.650000	0.86243	CCT	APC	-	NULL	ENSG00000134982		0.453	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	HGNC	protein_coding	OTTHUMT00000250738.2		0.00	16	0	C	NM_000038		112175663	+1			no_errors	ENST00000257430	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.182	T
APOB	338	genome.wustl.edu	37	2	21233221	21233221	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:21233221T>G	ENST00000233242.1	-	26	6646	c.6519A>C	c.(6517-6519)caA>caC	p.Q2173H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2173	Heparin-binding.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGTCTGCAGTTGAGATAGTT	0.259																																																	0													48.0	48.0	48.0					2																	21233221		2200	4299	6499	SO:0001583	missense	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.6519A>C	2.37:g.21233221T>G	ENSP00000233242:p.Gln2173His		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Q2173H	ENST00000233242.1	37	c.6519	CCDS1703.1	2	.	.	.	.	.	.	.	.	.	.	T	10.61	1.397412	0.25205	.	.	ENSG00000084674	ENST00000233242;ENST00000535079	T	0.00848	5.62	5.54	0.303	0.15791	.	0.000000	0.64402	D	0.000020	T	0.01976	0.0062	M	0.76574	2.34	0.50039	D	0.999843	D	0.62365	0.991	P	0.52710	0.707	T	0.58463	-0.7632	10	0.72032	D	0.01	.	1.4841	0.02443	0.1455:0.3438:0.1485:0.3621	.	2173	P04114	APOB_HUMAN	H	2173	ENSP00000233242:Q2173H	ENSP00000233242:Q2173H	Q	-	3	2	APOB	21086726	1.000000	0.71417	0.978000	0.43139	0.870000	0.49936	1.068000	0.30629	0.053000	0.16036	0.459000	0.35465	CAA	APOB	-	NULL	ENSG00000084674		0.259	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	-	0.00	26	0	T			21233221	-1	tier1	-	no_errors	ENST00000233242	ensembl	human	known	74_37	missense	29.09	39	16	SNP	0.268	G
ARAP2	116984	genome.wustl.edu	37	4	36130200	36130202	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	CAT	CAT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:36130200_36130202delCAT	ENST00000303965.4	-	21	4082_4084	c.3593_3595delATG	c.(3592-3597)gatgca>gca	p.D1198del		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1198	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						GTAAGCAGTGCATCATCAATGTC	0.384																																																	0																																										SO:0001651	inframe_deletion	0			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.3593_3595delATG	4.37:g.36130203_36130205delCAT	ENSP00000302895:p.Asp1198del		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	In_Frame_Del	DEL	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.D1198in_frame_del	ENST00000303965.4	37	c.3595_3593	CCDS3441.1	4																																																																																			ARAP2	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	ENSG00000047365		0.384	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2		0.00	35	0	CAT	NM_015230		36130202	-1	tier1		no_errors	ENST00000303965	ensembl	human	known	74_37	in_frame_del	18.60	35	8	DEL	1.000:1.000:1.000	-
ARL13B	200894	genome.wustl.edu	37	3	93699148	93699148	+	5'UTR	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:93699148T>G	ENST00000394222.3	+	0	156				ARL13B_ENST00000303097.7_5'UTR|ARL13B_ENST00000471138.1_5'UTR|ARL13B_ENST00000535334.1_5'UTR|ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000539730.1_5'UTR	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B						cilium assembly (GO:0042384)|dorsal/ventral pattern formation (GO:0009953)|formation of radial glial scaffolds (GO:0021943)|heart looping (GO:0001947)|interneuron migration from the subpallium to the cortex (GO:0021830)|left/right axis specification (GO:0070986)|neural tube patterning (GO:0021532)|nonmotile primary cilium assembly (GO:0035058)|small GTPase mediated signal transduction (GO:0007264)|smoothened signaling pathway (GO:0007224)	ciliary membrane (GO:0060170)|cilium (GO:0005929)|intracellular (GO:0005622)|primary cilium (GO:0072372)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						CCCTCCCGGCTTTTCCTCCCG	0.657																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AL713789	CCDS2924.1, CCDS2925.1, CCDS54615.1	3q11	2014-05-09	2005-11-18	2005-11-18	ENSG00000169379	ENSG00000169379		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25419	protein-coding gene	gene with protein product		608922	"""ADP-ribosylation factor-like 2-like 1"""	ARL2L1		15314642, 18674751	Standard	NR_033427		Approved	DKFZp761H079, JBTS8	uc003drf.3	Q3SXY8	OTTHUMG00000159012	ENST00000394222.3:c.-120T>G	3.37:g.93699148T>G			D3DN29|G3V1S8|Q504W8|Q8TCL5	RNA	SNP	-	NULL	ENST00000394222.3	37	NULL	CCDS2925.1	3																																																																																			ARL13B	-	-	ENSG00000169379		0.657	ARL13B-005	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	ARL13B	HGNC	protein_coding	OTTHUMT00000352904.1	-	0.00	42	0	T	NM_182896		93699148	+1	tier1	-	no_errors	ENST00000486562	ensembl	human	known	74_37	rna	58.33	20	28	SNP	0.000	G
ASB10	136371	genome.wustl.edu	37	7	150884266	150884267	+	5'Flank	INS	-	-	AG	rs34383739|rs372716545|rs552723672|rs397758299	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:150884266_150884267insAG	ENST00000420175.2	-	0	0				ASB10_ENST00000377867.3_Intron|ASB10_ENST00000422024.1_Frame_Shift_Ins_p.L29fs|ASB10_ENST00000434669.1_Frame_Shift_Ins_p.L29fs|ASB10_ENST00000275838.1_5'UTR			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)		ATGCCAAAGGCagagagagaga	0.594														980	0.195687	0.2179	0.2637	5008	,	,		19197	0.0813		0.2435	False		,,,				2504	0.1861																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.150884275_150884276dupAG	Exception_encountered		A0AVH0|Q6ZUL6	Frame_Shift_Ins	INS	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.P30fs	ENST00000420175.2	37	c.87_86	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	9	0	-	NM_080871		150884267	-1	tier1		no_errors	ENST00000422024	ensembl	human	known	74_37	frame_shift_ins	41.38	17	12	INS	0.000:0.003	AG
ASB7	140460	genome.wustl.edu	37	15	101169730	101169730	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr15:101169730G>A	ENST00000332783.7	+	5	1085	c.300G>A	c.(298-300)atG>atA	p.M100I	ASB7_ENST00000558747.1_Intron|ASB7_ENST00000343276.4_Missense_Mutation_p.M100I	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	100					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			CACGCTTGATGTTAGAATCTG	0.507																																																	0													64.0	64.0	64.0					15																	101169730		2203	4300	6503	SO:0001583	missense	0				CCDS10387.1, CCDS10388.1	15q26.3	2013-01-10	2011-01-25		ENSG00000183475	ENSG00000183475		"""Ankyrin repeat domain containing"""	17182	protein-coding gene	gene with protein product		615052	"""ankyrin repeat and SOCS box-containing 7"""				Standard	NM_024708		Approved		uc002bwk.3	Q9H672	OTTHUMG00000149868	ENST00000332783.7:c.300G>A	15.37:g.101169730G>A	ENSP00000328327:p.Met100Ile		A8K1E5|Q6GSJ6|Q7Z4S3	Missense_Mutation	SNP	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.M100I	ENST00000332783.7	37	c.300	CCDS10387.1	15	.	.	.	.	.	.	.	.	.	.	G	19.36	3.812286	0.70912	.	.	ENSG00000183475	ENST00000332783;ENST00000343276	T;T	0.50548	0.74;0.74	5.27	5.27	0.74061	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.33235	0.0856	N	0.04063	-0.285	0.80722	D	1	B;B	0.15473	0.013;0.002	B;B	0.26693	0.072;0.005	T	0.26815	-1.0092	10	0.87932	D	0	-18.2456	19.2541	0.93938	0.0:0.0:1.0:0.0	.	100;100	Q9H672;Q9H672-2	ASB7_HUMAN;.	I	100	ENSP00000328327:M100I;ENSP00000339819:M100I	ENSP00000328327:M100I	M	+	3	0	ASB7	98987253	1.000000	0.71417	0.973000	0.42090	0.981000	0.71138	9.240000	0.95396	2.618000	0.88619	0.455000	0.32223	ATG	ASB7	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000183475		0.507	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB7	HGNC	protein_coding	OTTHUMT00000313617.1		0.00	25	0	G	NM_024708		101169730	+1			no_errors	ENST00000332783	ensembl	human	known	74_37	missense	25.00	18	6	SNP	1.000	A
ATP1A2	477	genome.wustl.edu	37	1	160099104	160099104	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:160099104G>C	ENST00000361216.3	+	11	1464	c.1375G>C	c.(1375-1377)Gag>Cag	p.E459Q	ATP1A2_ENST00000392233.3_Missense_Mutation_p.E459Q	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	459					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAAGTGCATTGAGCTCTCCTG	0.527																																																	0													168.0	163.0	164.0					1																	160099104		2203	4300	6503	SO:0001583	missense	0			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1375G>C	1.37:g.160099104G>C	ENSP00000354490:p.Glu459Gln		D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase	p.E459Q	ENST00000361216.3	37	c.1375	CCDS1196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.0|24.0	4.483460|4.483460	0.84854|0.84854	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866|ENST00000447527	D;D|.	0.96104|.	-3.91;-3.91|.	4.66|4.66	4.66|4.66	0.58398|0.58398	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.61489|0.61489	0.2351|0.2351	L|L	0.53561|0.53561	1.675|1.675	0.80722|0.80722	D|D	1|1	B;P;P|.	0.42908|.	0.088;0.754;0.793|.	B;P;P|.	0.53062|.	0.345;0.594;0.717|.	T|T	0.60627|0.60627	-0.7226|-0.7226	10|5	0.66056|.	D|.	0.02|.	.|.	16.6703|16.6703	0.85264|0.85264	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	459;359;459|.	B1AKY9;F5GXJ7;P50993|.	.;.;AT1A2_HUMAN|.	Q|F	459;459;162|169	ENSP00000354490:E459Q;ENSP00000376066:E459Q|.	ENSP00000354490:E459Q|.	E|L	+|+	1|3	0|2	ATP1A2|ATP1A2	158365728|158365728	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.976000|0.976000	0.68499|0.68499	3.693000|3.693000	0.54735|0.54735	2.306000|2.306000	0.77630|0.77630	0.561000|0.561000	0.74099|0.74099	GAG|TTG	ATP1A2	-	pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC	ENSG00000018625		0.527	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2		0.00	22	0	G	NM_000702		160099104	+1			no_errors	ENST00000361216	ensembl	human	known	74_37	missense	5.00	56	3	SNP	1.000	C
BCL9L	283149	genome.wustl.edu	37	11	118772171	118772171	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:118772171C>A	ENST00000334801.3	-	6	3245	c.2281G>T	c.(2281-2283)Gtg>Ttg	p.V761L	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	761	Met-rich.				canonical Wnt signaling pathway (GO:0060070)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell morphogenesis (GO:0022604)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|transcription coactivator activity (GO:0003713)			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		GGTGGGTCCACCTCCCTCAGC	0.617																																																	0													136.0	84.0	102.0					11																	118772171		2200	4294	6494	SO:0001583	missense	0			AB094091	CCDS8403.1	11q23.3	2012-06-06				ENSG00000186174			23688	protein-coding gene	gene with protein product		609004				12964048	Standard	NM_182557		Approved	DLNB11	uc001pug.3	Q86UU0		ENST00000334801.3:c.2281G>T	11.37:g.118772171C>A	ENSP00000335320:p.Val761Leu		A1A4C1|Q67FY1|Q6ZWJ0|Q6ZWK2	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.V761L	ENST00000334801.3	37	c.2281	CCDS8403.1	11	.	.	.	.	.	.	.	.	.	.	C	4.519	0.096339	0.08681	.	.	ENSG00000186174	ENST00000334801;ENST00000526143;ENST00000525300;ENST00000392849;ENST00000431085	T	0.78003	-1.14	4.44	4.44	0.53790	.	0.158928	0.29198	N	0.012845	T	0.56688	0.2002	N	0.20685	0.6	0.32557	N	0.531565	B;B	0.09022	0.002;0.001	B;B	0.06405	0.002;0.001	T	0.53315	-0.8456	10	0.02654	T	1	-23.9247	8.9346	0.35691	0.0:0.8574:0.0:0.1426	.	756;761	Q86UU0-2;Q86UU0	.;BCL9L_HUMAN	L	761;724;54;761;761	ENSP00000335320:V761L	ENSP00000335320:V761L	V	-	1	0	BCL9L	118277381	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	1.766000	0.38491	2.292000	0.77174	0.313000	0.20887	GTG	BCL9L	-	NULL	ENSG00000186174		0.617	BCL9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9L	HGNC	protein_coding	OTTHUMT00000389653.1	-	0.00	70	0	C	NM_182557		118772171	-1	tier1	-	no_errors	ENST00000334801	ensembl	human	known	74_37	missense	7.89	70	6	SNP	1.000	A
BICC1	80114	genome.wustl.edu	37	10	60573843	60573843	+	Intron	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:60573843A>G	ENST00000373886.3	+	18	2537				BICC1_ENST00000263103.1_Missense_Mutation_p.K503R	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1						multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TCTGACTTCAAGTGCTTGGTG	0.458																																																	0																																										SO:0001627	intron_variant	0			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2533+97A>G	10.37:g.60573843A>G				Missense_Mutation	SNP	NULL	p.K503R	ENST00000373886.3	37	c.1508	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	A	8.717	0.913456	0.17907	.	.	ENSG00000122870	ENST00000263103	T	0.48201	0.82	3.92	1.59	0.23543	.	.	.	.	.	T	0.27524	0.0676	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19811	-1.0294	7	.	.	.	.	5.4408	0.16507	0.769:0.0:0.231:0.0	.	797	E7EU62	.	R	503	ENSP00000263103:K503R	.	K	+	2	0	BICC1	60243849	0.000000	0.05858	0.005000	0.12908	0.303000	0.27691	0.314000	0.19432	0.341000	0.23771	-0.290000	0.09829	AAG	BICC1	-	NULL	ENSG00000122870		0.458	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	-	0.00	59	0	A	NM_025044		60573843	+1	tier1	-	no_errors	ENST00000263103	ensembl	human	known	74_37	missense	34.78	45	24	SNP	0.004	G
BNC1	646	genome.wustl.edu	37	15	83935797	83935798	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr15:83935797_83935798insG	ENST00000345382.2	-	3	310_311	c.225_226insC	c.(223-228)cccatgfs	p.M76fs	BNC1_ENST00000569704.1_Frame_Shift_Ins_p.M69fs|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	76					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						GTTGGATACATGGGGGGGATCC	0.421																																																	0																																										SO:0001589	frameshift_variant	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.226dupC	15.37:g.83935804_83935804dupG	ENSP00000307041:p.Met76fs		Q15840	Frame_Shift_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.M75fs	ENST00000345382.2	37	c.226_225	CCDS10324.1	15																																																																																			BNC1	-	NULL	ENSG00000169594		0.421	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BNC1	HGNC	protein_coding	OTTHUMT00000304006.1		0.00	40	0	-	NM_001717		83935798	-1	tier1		no_errors	ENST00000345382	ensembl	human	known	74_37	frame_shift_ins	33.33	24	12	INS	0.001:0.001	G
BRINP3	339479	genome.wustl.edu	37	1	190250831	190250831	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:190250831A>G	ENST00000367462.3	-	3	517	c.286T>C	c.(286-288)Ttc>Ctc	p.F96L	RP11-547I7.1_ENST00000452178.1_RNA|BRINP3_ENST00000534846.1_Intron	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	96	MACPF.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											GAGCCAAGGAAATTTCTTCTC	0.398																																																	0													81.0	78.0	79.0					1																	190250831		2203	4300	6503	SO:0001583	missense	0			AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.286T>C	1.37:g.190250831A>G	ENSP00000356432:p.Phe96Leu		B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.F96L	ENST00000367462.3	37	c.286	CCDS1373.1	1	.	.	.	.	.	.	.	.	.	.	A	17.21	3.332190	0.60853	.	.	ENSG00000162670	ENST00000367462	D	0.83755	-1.76	5.88	5.88	0.94601	Membrane attack complex component/perforin (MACPF) domain (2);	0.000000	0.85682	D	0.000000	T	0.72811	0.3507	N	0.24115	0.695	0.80722	D	1	P	0.37061	0.58	B	0.39562	0.303	T	0.70310	-0.4907	10	0.08837	T	0.75	.	14.2271	0.65868	1.0:0.0:0.0:0.0	.	96	Q76B58	FAM5C_HUMAN	L	96	ENSP00000356432:F96L	ENSP00000356432:F96L	F	-	1	0	FAM5C	188517454	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.944000	0.70219	2.248000	0.74166	0.477000	0.44152	TTC	BRINP3	-	pfam_MACPF,smart_MACPF	ENSG00000162670		0.398	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP3	HGNC	protein_coding	OTTHUMT00000086278.1	-	0.00	21	0	A	NM_199051		190250831	-1	tier1	-	no_errors	ENST00000367462	ensembl	human	known	74_37	missense	31.71	28	13	SNP	1.000	G
C1QTNF9	338872	genome.wustl.edu	37	13	24890109	24890109	+	Intron	SNP	C	C	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:24890109C>A	ENST00000382071.2	+	2	63				C1QTNF9_ENST00000332018.4_Intron|C1QTNF9-AS1_ENST00000449656.1_RNA|RP11-307N16.6_ENST00000382141.4_Intron			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9							collagen trimer (GO:0005581)|extracellular region (GO:0005576)				endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GTTTCTGTTTCCCTCTTTCAG	0.522																																																	0													76.0	73.0	74.0					13																	24890109		2203	4300	6503	SO:0001627	intron_variant	0			BC040438	CCDS9306.1	13q12.12	2010-08-18			ENSG00000240654	ENSG00000240654			28732	protein-coding gene	gene with protein product		614285				12975309, 18787108	Standard	NM_178540		Approved	MGC48915, CTRP9, C1QTNF9A, AQL1	uc001upj.3	P0C862	OTTHUMG00000016576	ENST00000382071.2:c.-22-11C>A	13.37:g.24890109C>A			A2A3T6|Q0VGC5|Q5VX65|Q5VX66|Q8IUU4	RNA	SNP	-	NULL	ENST00000382071.2	37	NULL	CCDS9306.1	13																																																																																			C1QTNF9-AS1	-	-	ENSG00000240868		0.522	C1QTNF9-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF9-AS1	HGNC	protein_coding	OTTHUMT00000044177.1	-	0.00	49	0	C	NM_178540		24890109	-1	tier1	-	no_errors	ENST00000449656	ensembl	human	known	74_37	rna	25.58	32	11	SNP	0.322	A
C5AR1	728	genome.wustl.edu	37	19	47823632	47823632	+	Nonsense_Mutation	SNP	C	C	T	rs555043742		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:47823632C>T	ENST00000355085.3	+	2	620	c.598C>T	c.(598-600)Cga>Tga	p.R200*		NM_001736.3	NP_001727.1	P21730	C5AR1_HUMAN	complement component 5a receptor 1	200					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|cell proliferation in hindbrain (GO:0021534)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|complement component C5a signaling pathway (GO:0038178)|defense response to Gram-positive bacterium (GO:0050830)|immune response (GO:0006955)|inflammatory response (GO:0006954)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of neuron apoptotic process (GO:0043524)|neutrophil chemotaxis (GO:0030593)|organ regeneration (GO:0031100)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C5a anaphylatoxin receptor activity (GO:0004944)|complement component C5a receptor activity (GO:0004878)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACGGCGGGAGCGAGCCGTGGC	0.612																																																	0													71.0	78.0	76.0					19																	47823632		2201	4293	6494	SO:0001587	stop_gained	0				CCDS33063.1	19q13.3-q13.4	2012-08-10	2006-02-09	2006-02-09		ENSG00000197405		"""CD molecules"", ""Complement system"", ""GPCR / Class A : Complement component receptors"""	1338	protein-coding gene	gene with protein product		113995	"""complement component 5 receptor 1 (C5a ligand)"""	C5R1		1612600	Standard	NM_001736		Approved	C5A, C5AR, CD88	uc002pgj.1	P21730		ENST00000355085.3:c.598C>T	19.37:g.47823632C>T	ENSP00000347197:p.Arg200*			Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C5AR1/C5AR2,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Brdyknn_rcpt,prints_Formyl_pep_rcpt	p.R200*	ENST00000355085.3	37	c.598	CCDS33063.1	19	.	.	.	.	.	.	.	.	.	.	c	16.86	3.239563	0.58995	.	.	ENSG00000197405	ENST00000355085	.	.	.	4.96	-1.85	0.07784	.	1.338420	0.04470	U	0.375840	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	0.8327	0.01134	0.47:0.1411:0.1615:0.2274	.	.	.	.	X	200	.	ENSP00000347197:R200X	R	+	1	2	C5AR1	52515472	0.000000	0.05858	0.011000	0.14972	0.019000	0.09904	-1.488000	0.02308	-0.064000	0.13043	0.472000	0.43445	CGA	C5AR1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000197405		0.612	C5AR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C5AR1	HGNC	protein_coding	OTTHUMT00000466925.1	-	0.00	83	0	C	NM_001736		47823632	+1	tier1	-	no_errors	ENST00000355085	ensembl	human	known	74_37	nonsense	24.21	71	23	SNP	0.000	T
C9orf78	51759	genome.wustl.edu	37	9	132596000	132596001	+	Intron	INS	-	-	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr9:132596000_132596001insA	ENST00000372447.3	-	3	197				C9orf78_ENST00000461762.1_5'UTR|USP20_ENST00000358355.1_5'Flank|USP20_ENST00000315480.4_5'Flank|USP20_ENST00000372429.3_5'Flank	NM_016520.2	NP_057604.1	Q9NZ63	CI078_HUMAN	chromosome 9 open reading frame 78							cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)	13		Ovarian(14;0.00556)				TGAGCAAAACCAAAAAAAAAAG	0.48																																																	0																																										SO:0001627	intron_variant	0			BC017570	CCDS6931.1	9q34.2	2012-03-16			ENSG00000136819	ENSG00000136819			24932	protein-coding gene	gene with protein product	"""Hepatocellular carcinoma-associated antigen 59"""					11042152, 12097419	Standard	NM_016520		Approved	HSPC220, HCA59	uc004byp.3	Q9NZ63	OTTHUMG00000020796	ENST00000372447.3:c.144-12->T	9.37:g.132596010_132596010dupA			B3KPX8|Q8WVU6|Q9NT39	RNA	INS	-	NULL	ENST00000372447.3	37	NULL	CCDS6931.1	9																																																																																			C9orf78	-	-	ENSG00000136819		0.480	C9orf78-007	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf78	HGNC	protein_coding	OTTHUMT00000054625.1		0.00	21	0	-	NM_016520		132596001	-1	tier1		no_errors	ENST00000461762	ensembl	human	known	74_37	rna	20.83	19	5	INS	0.062:0.115	A
CACNA1D	776	genome.wustl.edu	37	3	53809943	53809943	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:53809943C>G	ENST00000350061.5	+	35	4744	c.4233C>G	c.(4231-4233)atC>atG	p.I1411M	CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1396M|CACNA1D_ENST00000540742.1_Missense_Mutation_p.I303M|CACNA1D_ENST00000288139.4_Missense_Mutation_p.I1431M	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1411					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCAGGAGATCATGCTGGCCT	0.498																																																	0													146.0	156.0	153.0					3																	53809943		2203	4300	6503	SO:0001583	missense	0			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4233C>G	3.37:g.53809943C>G	ENSP00000288133:p.Ile1411Met		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.I1431M	ENST00000350061.5	37	c.4293	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	C	22.6	4.308041	0.81247	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.97941	-4.62;-4.62;-4.62;-4.62;-4.62	5.58	4.7	0.59300	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98673	0.9555	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.964;1.0;1.0;1.0	D;P;D;D;D	0.97110	1.0;0.792;0.999;0.998;1.0	D	0.99170	1.0864	10	0.87932	D	0	.	14.8543	0.70323	0.0:0.9296:0.0:0.0704	.	1396;303;1104;1411;1431	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	M	1411;1431;1396;1104;303	ENSP00000288133:I1411M;ENSP00000288139:I1431M;ENSP00000409174:I1396M;ENSP00000418014:I1104M;ENSP00000438229:I303M	ENSP00000288139:I1431M	I	+	3	3	CACNA1D	53784983	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.135000	0.42112	2.624000	0.88883	0.650000	0.86243	ATC	CACNA1D	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel	ENSG00000157388		0.498	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	-	0.00	56	0	C	NM_000720		53809943	+1	tier1	-	no_errors	ENST00000288139	ensembl	human	known	74_37	missense	45.28	29	24	SNP	1.000	G
RP11-248J23.6	0	genome.wustl.edu	37	10	97728514	97728514	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:97728514G>T	ENST00000472454.2	+	7	730	c.492G>T	c.(490-492)aaG>aaT	p.K164N	ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA																							AAATTCAGAAGCTCAAATACT	0.279																																																	0																																										SO:0001583	missense	0																														ENST00000472454.2:c.492G>T	10.37:g.97728514G>T	ENSP00000473658:p.Lys164Asn			Missense_Mutation	SNP	NULL	p.K164N	ENST00000472454.2	37	c.492		10																																																																																			RP11-248J23.6	-	NULL	ENSG00000269948		0.279	RP11-248J23.6-001	NOVEL	basic|appris_principal	protein_coding	CC2D2B	Clone_based_vega_gene	protein_coding	OTTHUMT00000468149.1	-	0.00	30	0	G			97728514	+1	tier1	-	no_errors	ENST00000472454	ensembl	human	novel	74_37	missense	12.50	28	4	SNP	1.000	T
CCDC54	84692	genome.wustl.edu	37	3	107096766	107096766	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:107096766G>A	ENST00000261058.1	+	1	579	c.332G>A	c.(331-333)aGa>aAa	p.R111K		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	111										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CTGGAAACCAGAATGAATGTT	0.378																																																	0													59.0	57.0	58.0					3																	107096766		2203	4300	6503	SO:0001583	missense	0			AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.332G>A	3.37:g.107096766G>A	ENSP00000261058:p.Arg111Lys		Q96A43	Missense_Mutation	SNP	NULL	p.R111K	ENST00000261058.1	37	c.332	CCDS2949.1	3	.	.	.	.	.	.	.	.	.	.	G	9.851	1.193637	0.22037	.	.	ENSG00000138483	ENST00000261058	T	0.66995	-0.24	5.29	2.42	0.29668	.	0.451698	0.20624	N	0.088718	T	0.51058	0.1652	L	0.39397	1.21	0.09310	N	0.999998	B	0.27882	0.192	B	0.25759	0.063	T	0.40961	-0.9535	10	0.44086	T	0.13	-1.8574	4.9491	0.14004	0.18:0.0:0.6532:0.1668	.	111	Q8NEL0	CCD54_HUMAN	K	111	ENSP00000261058:R111K	ENSP00000261058:R111K	R	+	2	0	CCDC54	108579456	0.103000	0.21917	0.244000	0.24202	0.462000	0.32619	0.949000	0.29109	0.198000	0.20407	0.585000	0.79938	AGA	CCDC54	-	NULL	ENSG00000138483		0.378	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC54	HGNC	protein_coding	OTTHUMT00000353651.1	-	0.00	22	0	G	NM_032600		107096766	+1	tier1	-	no_errors	ENST00000261058	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.377	A
CDC123	8872	genome.wustl.edu	37	10	12257743	12257743	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:12257743C>G	ENST00000281141.4	+	5	522	c.242C>G	c.(241-243)cCa>cGa	p.P81R	CDC123_ENST00000378900.2_Missense_Mutation_p.P81R|CDC123_ENST00000455773.3_3'UTR	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	81					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|positive regulation of cell proliferation (GO:0008284)|regulation of mitotic cell cycle (GO:0007346)	cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						CTGTAGGCACCAGAATTTCCT	0.413																																																	0													94.0	89.0	90.0					10																	12257743		2203	4300	6503	SO:0001583	missense	0			BC001600	CCDS7090.1	10p13	2013-01-17	2013-01-17	2006-11-06	ENSG00000151465	ENSG00000151465			16827	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 7"", ""cell division cycle 123 homolog (S. cerevisiae)"""	C10orf7		15319434	Standard	NM_006023		Approved	D123	uc001ill.3	O75794	OTTHUMG00000017680	ENST00000281141.4:c.242C>G	10.37:g.12257743C>G	ENSP00000281141:p.Pro81Arg		A8JZZ7|Q14107|Q5T0L4|Q5T0L5|Q5T0L7|Q5T0L8|Q5T0L9	Missense_Mutation	SNP	pfam_D123,pirsf_Cell_div_Cdc123	p.P81R	ENST00000281141.4	37	c.242	CCDS7090.1	10	.	.	.	.	.	.	.	.	.	.	C	23.6	4.440502	0.83993	.	.	ENSG00000151465	ENST00000281141;ENST00000378900;ENST00000455773	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.77738	0.4175	M	0.69185	2.1	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.74788	-0.3546	9	0.33940	T	0.23	-11.2132	19.0431	0.93010	0.0:1.0:0.0:0.0	.	81	O75794	CD123_HUMAN	R	81;81;39	.	ENSP00000281141:P81R	P	+	2	0	CDC123	12297749	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	6.852000	0.75430	2.590000	0.87494	0.655000	0.94253	CCA	CDC123	-	pfam_D123,pirsf_Cell_div_Cdc123	ENSG00000151465		0.413	CDC123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC123	HGNC	protein_coding	OTTHUMT00000046801.1		0.00	32	0	C	NM_006023		12257743	+1			no_errors	ENST00000281141	ensembl	human	known	74_37	missense	26.67	22	8	SNP	1.000	G
CDH19	28513	genome.wustl.edu	37	18	64172528	64172528	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr18:64172528A>C	ENST00000540086.1	-	10	1716	c.1470T>G	c.(1468-1470)ttT>ttG	p.F490L	CDH19_ENST00000262150.2_Missense_Mutation_p.L614V	NM_001271028.1	NP_001257957.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CCCAAAGTCAAAAAAATAAAC	0.323																																																	0													41.0	49.0	46.0					18																	64172528		2192	4205	6397	SO:0001583	missense	0			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000540086.1:c.1470T>G	18.37:g.64172528A>C	ENSP00000439593:p.Phe490Leu		O15098	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L614V	ENST00000540086.1	37	c.1840	CCDS59325.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	11.51|11.51	1.660738|1.660738	0.29515|0.29515	.|.	.|.	ENSG00000071991|ENSG00000071991	ENST00000540086|ENST00000262150	T|T	0.52983|0.59638	0.64|0.25	5.19|5.19	-5.51|-5.51	0.02568|0.02568	.|.	.|0.385169	.|0.23854	.|N	.|0.043916	T|T	0.45716|0.45716	0.1356|0.1356	M|M	0.81341|0.81341	2.54|2.54	0.09310|0.09310	N|N	1|1	B|B	0.14438|0.19935	0.01|0.04	B|B	0.14023|0.13407	0.01|0.009	T|T	0.47100|0.47100	-0.9143|-0.9143	9|10	0.46703|0.87932	T|D	0.11|0	.|.	0.8867|0.8867	0.01246|0.01246	0.3225:0.2835:0.2172:0.1768|0.3225:0.2835:0.2172:0.1768	.|.	490|614	F5H1K0|Q9H159	.|CAD19_HUMAN	L|V	490|614	ENSP00000439593:F490L|ENSP00000262150:L614V	ENSP00000439593:F490L|ENSP00000262150:L614V	F|L	-|-	3|1	2|2	CDH19|CDH19	62323508|62323508	0.031000|0.031000	0.19500|0.19500	0.177000|0.177000	0.23020|0.23020	0.404000|0.404000	0.30871|0.30871	0.031000|0.031000	0.13710|0.13710	-0.480000|-0.480000	0.06803|0.06803	0.533000|0.533000	0.62120|0.62120	TTT|TTG	CDH19	-	NULL	ENSG00000071991		0.323	CDH19-005	PUTATIVE	basic|exp_conf|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000442285.1	-	0.00	18	0	A	NM_021153		64172528	-1	tier1	-	no_errors	ENST00000262150	ensembl	human	known	74_37	missense	76.19	5	16	SNP	0.104	C
CDH26	60437	genome.wustl.edu	37	20	58587737	58587737	+	Intron	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:58587737A>G	ENST00000244047.5	+	15	2483				CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000348616.4_Silent_p.K817K|CDH26_ENST00000244049.3_Silent_p.K109K|CDH26_ENST00000350849.6_Silent_p.K150K			Q8IXH8	CAD26_HUMAN	cadherin 26						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TGGGTTCAAAAGCGACTCCGT	0.458																																																	0													91.0	91.0	91.0					20																	58587737		2203	4300	6503	SO:0001627	intron_variant	0			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.2172+5895A>G	20.37:g.58587737A>G			A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K817	ENST00000244047.5	37	c.2451		20																																																																																			CDH26	-	NULL	ENSG00000124215		0.458	CDH26-201	KNOWN	basic	protein_coding	CDH26	HGNC	protein_coding		-	0.00	44	0	A	NM_177980		58587737	+1	tier1	-	no_errors	ENST00000348616	ensembl	human	known	74_37	silent	8.57	64	6	SNP	0.000	G
PSORS1C1	170679	genome.wustl.edu	37	6	31084612	31084612	+	Intron	SNP	G	G	A	rs566049981	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:31084612G>A	ENST00000259881.9	+	1	61				CDSN_ENST00000376288.2_Silent_p.H260H|PSORS1C1_ENST00000467107.1_3'UTR	NM_014068.2	NP_054787.2	Q9UIG5	PS1C1_HUMAN	psoriasis susceptibility 1 candidate 1											kidney(1)|ovary(2)|prostate(1)|skin(1)	5						CACCAGAACCGTGCTGGTCCA	0.627													g|||	2	0.000399361	0.0	0.0	5008	,	,		15956	0.0		0.0	False		,,,				2504	0.002																0													25.0	26.0	25.0					6																	31084612		2197	4286	6483	SO:0001627	intron_variant	0			AB031479	CCDS34390.1	6p21.3	2014-01-28	2003-06-12		ENSG00000204540	ENSG00000204540			17202	protein-coding gene	gene with protein product		613525	"""chromosome 6 open reading frame 16"""	C6orf16			Standard	NM_014068		Approved	SEEK1	uc003nsl.2	Q9UIG5	OTTHUMG00000031077	ENST00000259881.9:c.-229+1944G>A	6.37:g.31084612G>A			B0V083|Q5ST21|Q86WJ8|Q86WJ9|Q96QC3	Silent	SNP	NULL	p.H260	ENST00000259881.9	37	c.780	CCDS34390.1	6																																																																																			CDSN	-	NULL	ENSG00000204539		0.627	PSORS1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDSN	HGNC	protein_coding	OTTHUMT00000076110.3	-	0.00	33	0	G	NM_014068		31084612	-1	tier1	-	no_errors	ENST00000376288	ensembl	human	known	74_37	silent	52.63	27	30	SNP	0.969	A
CEP164P1	100289237	genome.wustl.edu	37	10	45566288	45566288	+	RNA	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:45566288T>C	ENST00000456938.2	-	0	87									centrosomal protein 164kDa pseudogene 1																		GCCAGGGGACTTTTGGGGGTC	0.463																																																	0																																												0					10q11.21	2013-05-22			ENSG00000226937	ENSG00000226937			44988	pseudogene	pseudogene							Standard	NG_032712		Approved				OTTHUMG00000018069		10.37:g.45566288T>C				RNA	SNP	-	NULL	ENST00000456938.2	37	NULL		10																																																																																			CEP164P1	-	-	ENSG00000226937		0.463	CEP164P1-002	KNOWN	basic	processed_transcript	CEP164P1	HGNC	pseudogene	OTTHUMT00000047765.2	-	0.00	20	0	T	NG_032712		45566288	-1	tier1	-	no_errors	ENST00000598522	ensembl	human	known	74_37	rna	22.73	17	5	SNP	0.969	C
CEP350	9857	genome.wustl.edu	37	1	179966116	179966116	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:179966116G>A	ENST00000367607.3	+	6	1242	c.824G>A	c.(823-825)cGg>cAg	p.R275Q		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	275					microtubule anchoring (GO:0034453)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATTCTAAAGCGGCGACAACAT	0.428																																																	0													103.0	108.0	106.0					1																	179966116		2203	4300	6503	SO:0001583	missense	0			AF287356	CCDS1336.1	1q25.2	2014-02-20			ENSG00000135837	ENSG00000135837			24238	protein-coding gene	gene with protein product	"""centrosome associated protein 350"""					16314388, 15615782	Standard	NM_014810		Approved	KIAA0480, CAP350	uc001gnt.3	Q5VT06	OTTHUMG00000035269	ENST00000367607.3:c.824G>A	1.37:g.179966116G>A	ENSP00000356579:p.Arg275Gln		O75068|Q8TDK3|Q8WY20	Missense_Mutation	SNP	pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain	p.R275Q	ENST00000367607.3	37	c.824	CCDS1336.1	1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.853467	0.51270	.	.	ENSG00000135837	ENST00000367607	T	0.19806	2.12	5.25	4.31	0.51392	.	0.201167	0.25146	N	0.032788	T	0.13157	0.0319	N	0.24115	0.695	0.32455	N	0.54485	B;B	0.20261	0.016;0.043	B;B	0.12156	0.003;0.007	T	0.14839	-1.0458	9	.	.	.	.	10.1443	0.42753	0.1705:0.0:0.8295:0.0	.	275;275	E7EU22;Q5VT06	.;CE350_HUMAN	Q	275	ENSP00000356579:R275Q	.	R	+	2	0	CEP350	178232739	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	2.711000	0.47177	1.147000	0.42369	0.446000	0.29264	CGG	CEP350	-	NULL	ENSG00000135837		0.428	CEP350-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP350	HGNC	protein_coding	OTTHUMT00000085315.2	-	0.00	21	0	G	NM_014810		179966116	+1	tier1	rs146475303	no_errors	ENST00000367607	ensembl	human	known	74_37	missense	42.42	19	14	SNP	1.000	A
CHMP4A	29082	genome.wustl.edu	37	14	24682715	24682715	+	5'Flank	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr14:24682715A>G	ENST00000609024.1	-	0	0				CHMP4A_ENST00000542700.2_5'Flank|TM9SF1_ENST00000530611.1_5'Flank|AL136419.6_ENST00000565988.1_RNA|TM9SF1_ENST00000556387.1_5'Flank|CHMP4A_ENST00000347519.6_Silent_p.H20H|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|MDP1_ENST00000532557.1_5'Flank			Q9BY43	CHM4A_HUMAN	charged multivesicular body protein 4A						endosomal transport (GO:0016197)|membrane budding (GO:0006900)|membrane organization (GO:0061024)|membrane tubulation (GO:0097320)|negative regulation of autophagic vacuole assembly (GO:1902902)|negative regulation of neuron death (GO:1901215)|posttranslational protein targeting to membrane (GO:0006620)|protein homooligomerization (GO:0051260)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|ESCRT III complex (GO:0000815)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			NS(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9				GBM - Glioblastoma multiforme(265;0.0181)		TGGGAGGGTGATGTCTCATCA	0.657																																																	0													58.0	50.0	53.0					14																	24682715		2203	4300	6503	SO:0001631	upstream_gene_variant	0			AF212243	CCDS9619.1	14q12	2012-10-04	2011-09-21	2005-04-04	ENSG00000254505	ENSG00000254505		"""Charged multivesicular body proteins"""	20274	protein-coding gene	gene with protein product		610051	"""chromosome 14 open reading frame 123"", ""chromatin modifying protein 4A"""	C14orf123			Standard	NM_014169		Approved	HSPC134, VPS32A		Q9BY43	OTTHUMG00000167036		14.37:g.24682715A>G	Exception_encountered		Q14D22|Q32Q79|Q86SZ8|Q96QJ9|Q9P026	Silent	SNP	pfam_Snf7	p.H20	ENST00000609024.1	37	c.60		14																																																																																			CHMP4A	-	NULL	ENSG00000254505		0.657	CHMP4A-012	KNOWN	basic|appris_principal	protein_coding	CHMP4A	HGNC	protein_coding	OTTHUMT00000471846.1	-	0.00	41	0	A	NM_014169		24682715	-1	tier1	-	no_errors	ENST00000347519	ensembl	human	known	74_37	silent	19.40	54	13	SNP	0.000	G
CHODL	140578	genome.wustl.edu	37	21	19635123	19635123	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr21:19635123T>C	ENST00000299295.2	+	5	1041	c.650T>C	c.(649-651)cTa>cCa	p.L217P	CHODL_ENST00000338326.3_Intron|CHODL_ENST00000400135.1_Intron|CHODL_ENST00000400128.1_Missense_Mutation_p.L176P|CHODL_ENST00000400131.1_Intron|CHODL_ENST00000400127.1_Missense_Mutation_p.L176P|CHODL_ENST00000543733.1_Missense_Mutation_p.L198P	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	217					muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		ATTCCCAATCTAATTTATGTT	0.313																																																	0													119.0	119.0	119.0					21																	19635123		2203	4297	6500	SO:0001583	missense	0			AF257472	CCDS13570.1, CCDS56208.1, CCDS56209.1, CCDS56210.1	21q11.2	2006-04-03	2002-07-04		ENSG00000154645	ENSG00000154645			17807	protein-coding gene	gene with protein product		607247	"""chromosome 21 open reading frame 68"""	C21orf68		12079284	Standard	NM_024944		Approved	FLJ12627, PRED12, MT75	uc021whs.1	Q9H9P2	OTTHUMG00000074519	ENST00000299295.2:c.650T>C	21.37:g.19635123T>C	ENSP00000299295:p.Leu217Pro		B2R9C0|B4DJB8|Q7Z798|Q7Z799|Q7Z7A0|Q9HCY3	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L217P	ENST00000299295.2	37	c.650	CCDS13570.1	21	.	.	.	.	.	.	.	.	.	.	T	21.6	4.173147	0.78452	.	.	ENSG00000154645	ENST00000400128;ENST00000400127;ENST00000299295;ENST00000543733	T;T;T;T	0.25085	1.88;1.88;1.82;1.85	5.39	5.39	0.77823	.	0.067384	0.64402	D	0.000009	T	0.51143	0.1657	M	0.74258	2.255	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.51458	-0.8703	9	.	.	.	-9.3571	14.8891	0.70594	0.0:0.0:0.0:1.0	.	217	Q9H9P2	CHODL_HUMAN	P	176;176;217;198	ENSP00000382993:L176P;ENSP00000382992:L176P;ENSP00000299295:L217P;ENSP00000443566:L198P	.	L	+	2	0	CHODL	18556994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.394000	0.79862	2.170000	0.68504	0.533000	0.62120	CTA	CHODL	-	NULL	ENSG00000154645		0.313	CHODL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHODL	HGNC	protein_coding	OTTHUMT00000158232.1	-	0.00	41	0	T	NM_024944		19635123	+1	tier1	-	no_errors	ENST00000299295	ensembl	human	known	74_37	missense	76.60	11	36	SNP	1.000	C
CHRD	8646	genome.wustl.edu	37	3	184106421	184106421	+	Silent	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:184106421T>C	ENST00000204604.1	+	21	2847	c.2601T>C	c.(2599-2601)gaT>gaC	p.D867D	CHRD_ENST00000348986.3_Silent_p.D827D|CHRD_ENST00000545352.1_Silent_p.D409D|CHRD_ENST00000450923.1_Silent_p.D867D|EIF2B5_ENST00000444495.1_Intron	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	867					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGCAGGCTGATGGGCCCCGGG	0.617																																																	0													49.0	58.0	55.0					3																	184106421		2203	4300	6503	SO:0001819	synonymous_variant	0			AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.2601T>C	3.37:g.184106421T>C			O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Silent	SNP	pfam_CHRD,pfam_VWF_C,smart_VWF_C,smart_CHRD,pirsf_Chordin,pfscan_CHRD,pfscan_VWF_C	p.D867	ENST00000204604.1	37	c.2601	CCDS3266.1	3																																																																																			CHRD	-	pirsf_Chordin	ENSG00000090539		0.617	CHRD-001	KNOWN	basic|CCDS	protein_coding	CHRD	HGNC	protein_coding	OTTHUMT00000280432.1	-	0.00	57	0	T	NM_003741		184106421	+1	tier1	-	no_errors	ENST00000204604	ensembl	human	known	74_37	silent	26.53	72	26	SNP	1.000	C
CISD1	55847	genome.wustl.edu	37	10	60029032	60029032	+	5'UTR	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:60029032C>T	ENST00000333926.5	+	0	215				IPMK_ENST00000373935.3_5'Flank	NM_018464.4	NP_060934.1	Q9NZ45	CISD1_HUMAN	CDGSH iron sulfur domain 1						regulation of cellular respiration (GO:0043457)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)			breast(1)	1						AGCGACGGCGCCATGAGTCTG	0.642																																																	0													64.0	55.0	58.0					10																	60029032		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AY960578	CCDS7251.1	10q21.3	2011-01-05	2007-08-10	2007-08-10	ENSG00000122873	ENSG00000122873		"""CDGSH iron sulfur domain containing"""	30880	protein-coding gene	gene with protein product		611932	"""chromosome 10 open reading frame 70"", ""zinc finger, CDGSH-type domain 1"""	C10orf70, ZCD1		17376863, 17584744	Standard	NM_018464		Approved	MDS029, mitoNEET	uc001jkc.5	Q9NZ45	OTTHUMG00000018266	ENST00000333926.5:c.-2C>T	10.37:g.60029032C>T			Q1X902	RNA	SNP	-	NULL	ENST00000333926.5	37	NULL	CCDS7251.1	10																																																																																			CISD1	-	-	ENSG00000122873		0.642	CISD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CISD1	HGNC	protein_coding	OTTHUMT00000048137.1	-	0.00	99	0	C	NM_018464		60029032	+1	tier1	-	no_errors	ENST00000464703	ensembl	human	known	74_37	rna	30.77	54	24	SNP	0.995	T
CLSTN2	64084	genome.wustl.edu	37	3	140282851	140282851	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:140282851T>C	ENST00000458420.3	+	16	2721	c.2531T>C	c.(2530-2532)cTt>cCt	p.L844P		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	844					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GTGTGCATGCTTGTGTTTGTC	0.537										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)												0													286.0	241.0	256.0					3																	140282851		2203	4300	6503	SO:0001583	missense	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.2531T>C	3.37:g.140282851T>C	ENSP00000402460:p.Leu844Pro		B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L844P	ENST00000458420.3	37	c.2531	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	T	16.30	3.084037	0.55861	.	.	ENSG00000158258	ENST00000458420	T	0.48836	0.8	5.62	5.62	0.85841	.	0.068330	0.64402	D	0.000011	T	0.70378	0.3217	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74160	-0.3755	9	.	.	.	-18.7806	13.7717	0.63029	0.0:0.0:0.0:1.0	.	844	Q9H4D0	CSTN2_HUMAN	P	844	ENSP00000402460:L844P	.	L	+	2	0	CLSTN2	141765541	1.000000	0.71417	0.925000	0.36789	0.004000	0.04260	8.040000	0.89188	2.138000	0.66242	0.528000	0.53228	CTT	CLSTN2	-	NULL	ENSG00000158258		0.537	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	-	0.00	82	0	T	NM_022131		140282851	+1	tier1	-	no_errors	ENST00000458420	ensembl	human	known	74_37	missense	28.00	90	35	SNP	0.998	C
CNBD1	168975	genome.wustl.edu	37	8	88365898	88365898	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:88365898T>G	ENST00000518476.1	+	10	1238	c.1187T>G	c.(1186-1188)cTt>cGt	p.L396R		NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	396								p.L396R(1)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						ATGGGGAAACTTAAGGAGAAG	0.323																																																	1	Substitution - Missense(1)	large_intestine(1)											84.0	81.0	82.0					8																	88365898		1814	4073	5887	SO:0001583	missense	0			AK093121	CCDS55259.1	8q21.3	2005-08-09				ENSG00000176571			26663	protein-coding gene	gene with protein product							Standard	NM_173538		Approved	FLJ35802	uc003ydy.2	Q8NA66		ENST00000518476.1:c.1187T>G	8.37:g.88365898T>G	ENSP00000430073:p.Leu396Arg			Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.L396R	ENST00000518476.1	37	c.1187	CCDS55259.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.20|12.20	1.865846|1.865846	0.32977|0.32977	.|.	.|.	ENSG00000176571|ENSG00000176571	ENST00000518476|ENST00000523299;ENST00000521593	D|D;D	0.94966|0.94046	-3.57|-3.34;-3.34	4.98|4.98	4.98|4.98	0.66077|0.66077	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (2);|.	0.000000|0.000000	0.42964|0.42964	D|D	0.000627|0.000627	D|D	0.93884|0.93884	0.8043|0.8043	M|M	0.66939|0.66939	2.045|2.045	0.09310|0.09310	N|N	0.999992|0.999992	D|.	0.89917|.	1.0|.	D|.	0.75020|.	0.985|.	D|D	0.89347|0.89347	0.3658|0.3658	10|8	0.87932|0.72032	D|D	0|0.01	-15.9692|-15.9692	11.1056|11.1056	0.48201|0.48201	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	396|.	Q8NA66|.	CNBD1_HUMAN|.	R|V	396|88;33	ENSP00000430073:L396R|ENSP00000430986:L88V;ENSP00000427742:L33V	ENSP00000430073:L396R|ENSP00000427742:L33V	L|L	+|+	2|1	0|2	CNBD1|CNBD1	88435014|88435014	0.353000|0.353000	0.24904|0.24904	0.063000|0.063000	0.19743|0.19743	0.162000|0.162000	0.22319|0.22319	3.947000|3.947000	0.56652|0.56652	1.880000|1.880000	0.54463|0.54463	0.454000|0.454000	0.30748|0.30748	CTT|TTA	CNBD1	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	ENSG00000176571		0.323	CNBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNBD1	HGNC	protein_coding	OTTHUMT00000375113.2	-	0.00	53	0	T	NM_173538		88365898	+1	tier1	-	no_errors	ENST00000518476	ensembl	human	known	74_37	missense	14.29	114	19	SNP	0.229	G
CNTN1	1272	genome.wustl.edu	37	12	41316209	41316209	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:41316209G>A	ENST00000551295.2	+	5	496	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	CNTN1_ENST00000547702.1_Missense_Mutation_p.E127K|CNTN1_ENST00000347616.1_Missense_Mutation_p.E127K|CNTN1_ENST00000547849.1_Missense_Mutation_p.E127K|CNTN1_ENST00000348761.2_Missense_Mutation_p.E116K|CNTN1_ENST00000360099.3_Missense_Mutation_p.E127K	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	127	Ig-like C2-type 1.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAGAAGCACTGAAGCAACCCT	0.403																																																	0													111.0	100.0	103.0					12																	41316209		2203	4300	6503	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.379G>A	12.37:g.41316209G>A	ENSP00000447006:p.Glu127Lys		A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.E127K	ENST00000551295.2	37	c.379	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	G	31	5.059552	0.93846	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69	5.65	4.75	0.60458	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.048893	0.85682	N	0.000000	T	0.28466	0.0704	L	0.56340	1.77	0.54753	D	0.999982	D;D;D	0.67145	0.996;0.979;0.983	P;P;P	0.60886	0.788;0.81;0.88	T	0.01290	-1.1394	10	0.36615	T	0.2	.	14.7892	0.69827	0.0696:0.0:0.9304:0.0	.	127;116;127	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	K	127;127;127;127;127;116	ENSP00000448004:E127K;ENSP00000447006:E127K;ENSP00000448653:E127K;ENSP00000325660:E127K;ENSP00000353213:E127K;ENSP00000261160:E116K	ENSP00000325660:E127K	E	+	1	0	CNTN1	39602476	1.000000	0.71417	0.835000	0.33067	0.963000	0.63663	9.230000	0.95299	1.523000	0.49018	0.585000	0.79938	GAA	CNTN1	-	smart_Ig_sub,pfscan_Ig-like_dom	ENSG00000018236		0.403	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2		0.00	19	0	G	NM_001843		41316209	+1			no_errors	ENST00000347616	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.997	A
CNTN3	5067	genome.wustl.edu	37	3	74347115	74347115	+	Silent	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:74347115T>C	ENST00000263665.6	-	17	2421	c.2394A>G	c.(2392-2394)gcA>gcG	p.A798A		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	798	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TACCTTCTTCTGCAGAGAACA	0.363																																																	0													121.0	119.0	119.0					3																	74347115		2203	4300	6503	SO:0001819	synonymous_variant	0			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.2394A>G	3.37:g.74347115T>C			B9EK50|Q9H039	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.A798	ENST00000263665.6	37	c.2394	CCDS33790.1	3																																																																																			CNTN3	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000113805		0.363	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN3	HGNC	protein_coding	OTTHUMT00000352306.1	-	0.00	26	0	T	NM_020872		74347115	-1	tier1	-	no_errors	ENST00000263665	ensembl	human	known	74_37	silent	40.48	25	17	SNP	1.000	C
COL14A1	7373	genome.wustl.edu	37	8	121381666	121381666	+	Silent	SNP	T	T	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:121381666T>A	ENST00000297848.3	+	47	5523	c.5253T>A	c.(5251-5253)ggT>ggA	p.G1751G	COL14A1_ENST00000309791.4_Silent_p.G1751G|COL14A1_ENST00000247781.3_Silent_p.G1656G	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GACCCCAAGGTCCTTCTGGCC	0.592																																																	0													69.0	71.0	71.0					8																	121381666		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.5253T>A	8.37:g.121381666T>A				Silent	SNP	pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.G1751	ENST00000297848.3	37	c.5253	CCDS34938.1	8																																																																																			COL14A1	-	NULL	ENSG00000187955		0.592	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	-	0.00	41	0	T	NM_021110		121381666	+1	tier1	-	no_errors	ENST00000297848	ensembl	human	known	74_37	silent	6.67	70	5	SNP	1.000	A
COL9A2	1298	genome.wustl.edu	37	1	40776803	40776803	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:40776803G>A	ENST00000372748.3	-	12	688	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	198	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	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)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			AGAATCCCGCGTTTGCCCGCA	0.622																																																	0													146.0	123.0	131.0					1																	40776803		2203	4300	6503	SO:0001583	missense	0			M95610	CCDS450.1	1p33-p32	2013-01-16			ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	protein-coding gene	gene with protein product		120260		EDM2		8454052, 8528240, 1429648	Standard	NM_001852		Approved	MED	uc001cfh.1	Q14055	OTTHUMG00000005761	ENST00000372748.3:c.592C>T	1.37:g.40776803G>A	ENSP00000361834:p.Arg198Cys		B2RMP9	Missense_Mutation	SNP	pfam_Collagen	p.R198C	ENST00000372748.3	37	c.592	CCDS450.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.41|17.41	3.382468|3.382468	0.61845|0.61845	.|.	.|.	ENSG00000049089|ENSG00000049089	ENST00000372748|ENST00000417105	D|.	0.94376|.	-3.41|.	5.63|5.63	3.71|3.71	0.42584|0.42584	.|.	0.409517|.	0.26196|.	N|.	0.025765|.	T|T	0.59183|0.59183	0.2175|0.2175	M|M	0.78801|0.78801	2.425|2.425	0.09310|0.09310	N|N	1|1	D|.	0.59357|.	0.985|.	P|.	0.51101|.	0.659|.	T|T	0.51092|0.51092	-0.8749|-0.8749	10|5	0.66056|.	D|.	0.02|.	.|.	11.4791|11.4791	0.50316|0.50316	0.0:0.0:0.6746:0.3254|0.0:0.0:0.6746:0.3254	.|.	198|.	Q14055|.	CO9A2_HUMAN|.	C|M	198|186	ENSP00000361834:R198C|.	ENSP00000361834:R198C|.	R|T	-|-	1|2	0|0	COL9A2|COL9A2	40549390|40549390	0.078000|0.078000	0.21339|0.21339	0.036000|0.036000	0.18154|0.18154	0.150000|0.150000	0.21749|0.21749	1.534000|1.534000	0.36051|0.36051	0.699000|0.699000	0.31761|0.31761	0.558000|0.558000	0.71614|0.71614	CGC|ACG	COL9A2	-	pfam_Collagen	ENSG00000049089		0.622	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A2	HGNC	protein_coding	OTTHUMT00000015764.3	-	0.00	43	0	G	NM_001852		40776803	-1	tier1	-	no_errors	ENST00000372748	ensembl	human	known	74_37	missense	25.71	26	9	SNP	0.003	A
CSMD1	64478	genome.wustl.edu	37	8	2966186	2966186	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:2966186T>G	ENST00000520002.1	-	45	7251	c.6696A>C	c.(6694-6696)caA>caC	p.Q2232H	CSMD1_ENST00000542608.1_Missense_Mutation_p.Q2231H|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q2231H|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q2232H|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q2232H|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q2232H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2232	CUB 13. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TGAGCAGGACTTGGTTGGTGG	0.488																																																	0													91.0	90.0	90.0					8																	2966186		1939	4141	6080	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.6696A>C	8.37:g.2966186T>G	ENSP00000430733:p.Gln2232His		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.Q2232H	ENST00000520002.1	37	c.6696		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.267|9.267	1.044586|1.044586	0.19748|0.19748	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608|ENST00000335551	T;T;T;T|.	0.19532|.	2.14;2.14;2.14;2.14|.	4.95|4.95	-4.85|-4.85	0.03142|0.03142	CUB (5);|.	0.146288|.	0.46442|.	D|.	0.000300|.	T|T	0.38692|0.38692	0.1050|0.1050	L|L	0.41415|0.41415	1.275|1.275	0.80722|0.80722	D|D	1|1	D;B;B|.	0.67145|.	0.996;0.01;0.007|.	D;B;B|.	0.80764|.	0.994;0.072;0.017|.	T|T	0.35871|0.35871	-0.9771|-0.9771	10|5	0.72032|.	D|.	0.01|.	.|.	2.7448|2.7448	0.05263|0.05263	0.1053:0.2832:0.1196:0.4918|0.1053:0.2832:0.1196:0.4918	.|.	2232;2232;2231|.	E5RIG2;Q96PZ7;F5H2I8|.	.;CSMD1_HUMAN;.|.	H|R	2232;2232;2093;2231;2231|1712	ENSP00000383047:Q2232H;ENSP00000430733:Q2232H;ENSP00000441462:Q2231H;ENSP00000446243:Q2231H|.	ENSP00000320445:Q2093H|.	Q|S	-|-	3|1	2|0	CSMD1|CSMD1	2953593|2953593	0.243000|0.243000	0.23878|0.23878	0.291000|0.291000	0.24904|0.24904	0.026000|0.026000	0.11368|0.11368	-0.422000|-0.422000	0.07043|0.07043	-1.066000|-1.066000	0.03164|0.03164	-0.484000|-0.484000	0.04775|0.04775	CAA|AGT	CSMD1	-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000183117		0.488	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	-	0.00	44	0	T	NM_033225		2966186	-1	tier1	-	no_errors	ENST00000520002	ensembl	human	known	74_37	missense	20.51	31	8	SNP	0.914	G
CSMD2	114784	genome.wustl.edu	37	1	34037135	34037135	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:34037135G>A	ENST00000373381.4	-	51	8130	c.7954C>T	c.(7954-7956)Cga>Tga	p.R2652*		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2654	Sushi 16. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGCTTACTTCGGCAGGTGGGC	0.572																																																	0													51.0	45.0	47.0					1																	34037135		2203	4300	6503	SO:0001587	stop_gained	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.7954C>T	1.37:g.34037135G>A	ENSP00000362479:p.Arg2652*		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Nonsense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.R2652*	ENST00000373381.4	37	c.7954		1	.	.	.	.	.	.	.	.	.	.	G	50	17.204723	0.99881	.	.	ENSG00000121904	ENST00000373381	.	.	.	5.38	4.47	0.54385	.	0.577030	0.18340	N	0.144210	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	7.0923	0.25291	0.0844:0.0:0.6478:0.2678	.	.	.	.	X	2652	.	ENSP00000241312:R2654X	R	-	1	2	CSMD2	33809722	1.000000	0.71417	0.997000	0.53966	0.769000	0.43574	3.892000	0.56235	1.267000	0.44247	0.655000	0.94253	CGA	CSMD2	-	superfamily_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000121904		0.572	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		-	0.00	56	0	G	NM_052896		34037135	-1	tier1	-	no_errors	ENST00000373381	ensembl	human	known	74_37	nonsense	48.08	27	25	SNP	1.000	A
CSMD3	114788	genome.wustl.edu	37	8	113277663	113277663	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:113277663C>G	ENST00000297405.5	-	60	9909	c.9665G>C	c.(9664-9666)aGt>aCt	p.S3222T	CSMD3_ENST00000343508.3_Missense_Mutation_p.S3182T|CSMD3_ENST00000455883.2_Missense_Mutation_p.S3053T|CSMD3_ENST00000352409.3_Missense_Mutation_p.S3152T	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3222	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATTACTCCACTCCATGTGCC	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													162.0	144.0	150.0					8																	113277663		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9665G>C	8.37:g.113277663C>G	ENSP00000297405:p.Ser3222Thr		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.S3222T	ENST00000297405.5	37	c.9665	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124861	0.77436	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.44	5.44	0.79542	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	L	0.53671	1.685	0.48696	D	0.999694	P;P;P	0.49862	0.855;0.929;0.917	P;P;P	0.59115	0.508;0.852;0.693	T	0.71652	-0.4528	10	0.42905	T	0.14	.	19.6111	0.95607	0.0:1.0:0.0:0.0	.	3053;3222;3182	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	T	3182;3222;2492;3053;3152	ENSP00000345799:S3182T;ENSP00000297405:S3222T;ENSP00000341558:S2492T;ENSP00000412263:S3053T;ENSP00000343124:S3152T	ENSP00000297405:S3222T	S	-	2	0	CSMD3	113346839	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	3.319000	0.51983	2.714000	0.92807	0.585000	0.79938	AGT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	53	0	C	NM_052900		113277663	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	7.84	94	8	SNP	1.000	G
CSMD3	114788	genome.wustl.edu	37	8	113326137	113326137	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:113326137A>T	ENST00000297405.5	-	49	7938	c.7694T>A	c.(7693-7695)aTa>aAa	p.I2565K	CSMD3_ENST00000343508.3_Missense_Mutation_p.I2525K|CSMD3_ENST00000455883.2_Missense_Mutation_p.I2461K|CSMD3_ENST00000352409.3_Missense_Mutation_p.I2495K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2565	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTACATACCTATATATCTTAT	0.338										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													106.0	111.0	109.0					8																	113326137		2203	4300	6503	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7694T>A	8.37:g.113326137A>T	ENSP00000297405:p.Ile2565Lys		Q96PZ3	Missense_Mutation	SNP	pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP	p.I2565K	ENST00000297405.5	37	c.7694	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	A	19.72	3.880228	0.72294	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.33865	1.39;1.39;1.39;1.39;1.39	5.63	5.63	0.86233	CUB (4);	0.071576	0.56097	D	0.000021	T	0.37652	0.1011	N	0.21142	0.635	0.80722	D	1	D;P;P	0.55800	0.973;0.919;0.917	P;P;P	0.58928	0.848;0.709;0.503	T	0.09357	-1.0678	10	0.05833	T	0.94	.	15.8178	0.78618	1.0:0.0:0.0:0.0	.	2461;2565;2525	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	2525;2565;1835;2461;2495	ENSP00000345799:I2525K;ENSP00000297405:I2565K;ENSP00000341558:I1835K;ENSP00000412263:I2461K;ENSP00000343124:I2495K	ENSP00000297405:I2565K	I	-	2	0	CSMD3	113395313	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	6.425000	0.73370	2.129000	0.65627	0.472000	0.43445	ATA	CSMD3	-	superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom	ENSG00000164796		0.338	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	0.00	43	0	A	NM_052900		113326137	-1	tier1	-	no_errors	ENST00000297405	ensembl	human	known	74_37	missense	10.43	146	17	SNP	1.000	T
CWF19L2	143884	genome.wustl.edu	37	11	107326458	107326458	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:107326458C>A	ENST00000282251.5	-	2	177	c.150G>T	c.(148-150)aaG>aaT	p.K50N	CWF19L2_ENST00000433523.1_Missense_Mutation_p.K50N	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	50							catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CCCGAAGTCGCTTAAGTTCTT	0.393																																																	0													275.0	223.0	239.0					11																	107326458		692	1591	2283	SO:0001583	missense	0			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.150G>T	11.37:g.107326458C>A	ENSP00000282251:p.Lys50Asn		A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Missense_Mutation	SNP	pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like	p.K50N	ENST00000282251.5	37	c.150	CCDS8336.2	11	.	.	.	.	.	.	.	.	.	.	C	18.17	3.563974	0.65651	.	.	ENSG00000152404	ENST00000282251;ENST00000433523	T;T	0.23950	1.88;1.88	5.4	1.1	0.20463	.	.	.	.	.	T	0.42063	0.1186	M	0.70595	2.14	0.29676	N	0.842079	D	0.76494	0.999	P	0.61874	0.895	T	0.35798	-0.9774	9	0.72032	D	0.01	.	7.2805	0.26308	0.0:0.531:0.0:0.469	.	50	Q2TBE0	C19L2_HUMAN	N	50	ENSP00000282251:K50N;ENSP00000387533:K50N	ENSP00000282251:K50N	K	-	3	2	CWF19L2	106831668	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	0.268000	0.18571	-0.067000	0.12976	0.585000	0.79938	AAG	CWF19L2	-	NULL	ENSG00000152404		0.393	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	-	0.00	34	0	C	NM_152434		107326458	-1	tier1	-	no_errors	ENST00000282251	ensembl	human	known	74_37	missense	26.09	34	12	SNP	1.000	A
CYP7B1	9420	genome.wustl.edu	37	8	65527677	65527677	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:65527677T>G	ENST00000310193.3	-	4	1136	c.963A>C	c.(961-963)gaA>gaC	p.E321D	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	321					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AACGGTCAATTTCGTCACGCA	0.483																																																	0													108.0	100.0	103.0					8																	65527677		2203	4300	6503	SO:0001583	missense	0			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.963A>C	8.37:g.65527677T>G	ENSP00000310721:p.Glu321Asp		B2RN07|Q9UNF5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	p.E321D	ENST00000310193.3	37	c.963	CCDS6180.1	8	.	.	.	.	.	.	.	.	.	.	T	17.54	3.414507	0.62511	.	.	ENSG00000172817	ENST00000310193	D	0.95069	-3.6	5.93	5.93	0.95920	.	0.043020	0.85682	D	0.000000	D	0.97096	0.9051	M	0.85099	2.735	0.41827	D	0.990057	D	0.89917	1.0	D	0.85130	0.997	D	0.97588	1.0115	10	0.72032	D	0.01	-31.7073	10.977	0.47472	0.0:0.0774:0.0:0.9226	.	321	O75881	CP7B1_HUMAN	D	321	ENSP00000310721:E321D	ENSP00000310721:E321D	E	-	3	2	CYP7B1	65690231	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.477000	0.45180	2.281000	0.76405	0.533000	0.62120	GAA	CYP7B1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000172817		0.483	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7B1	HGNC	protein_coding	OTTHUMT00000378550.1	-	0.00	56	0	T			65527677	-1	tier1	-	no_errors	ENST00000310193	ensembl	human	known	74_37	missense	15.38	99	18	SNP	1.000	G
DCHS2	54798	genome.wustl.edu	37	4	155411241	155411241	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:155411241C>T	ENST00000339452.1	-	1	1627	c.1267G>A	c.(1267-1269)Gtc>Atc	p.V423I	DCHS2_ENST00000443500.1_Missense_Mutation_p.V423I|DCHS2_ENST00000456341.2_Missense_Mutation_p.V416I	NM_001142552.1	NP_001136024.1	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1593	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACACGGGCGACGCCTCCCTCT	0.652																																																	0													3.0	5.0	4.0					4																	155411241		651	1513	2164	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000339452.1:c.1267G>A	4.37:g.155411241C>T	ENSP00000345062:p.Val423Ile		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V423I	ENST00000339452.1	37	c.1267	CCDS47150.1	4	.	.	.	.	.	.	.	.	.	.	C	3.680	-0.065657	0.07273	.	.	ENSG00000197410	ENST00000339452;ENST00000544161;ENST00000456341;ENST00000443500	T;T;T	0.61274	0.12;0.12;0.27	4.59	-0.332	0.12675	.	.	.	.	.	T	0.41166	0.1147	L	0.46157	1.445	0.09310	N	1	B;B	0.27679	0.1;0.185	B;B	0.22753	0.041;0.031	T	0.22452	-1.0216	9	0.20046	T	0.44	.	3.5917	0.07991	0.1074:0.5211:0.1062:0.2653	.	423;423	E9PG03;E9PC11	.;.	I	423;423;416;423	ENSP00000345062:V423I;ENSP00000408543:V416I;ENSP00000395539:V423I	ENSP00000345062:V423I	V	-	1	0	DCHS2	155630691	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.049000	0.14099	-0.750000	0.04740	-1.268000	0.01426	GTC	DCHS2	-	superfamily_Cadherin-like	ENSG00000197410		0.652	DCHS2-002	KNOWN	basic|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365282.1	-	0.00	31	0	C	NM_001142552		155411241	-1	tier1	-	no_errors	ENST00000339452	ensembl	human	known	74_37	missense	17.39	19	4	SNP	0.001	T
DCN	1634	genome.wustl.edu	37	12	91552198	91552198	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:91552198T>C	ENST00000052754.5	-	4	914	c.413A>G	c.(412-414)aAg>aGg	p.K138R	DCN_ENST00000456569.2_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.K138R|DCN_ENST00000303320.3_Intron|DCN_ENST00000547568.2_Intron|DCN_ENST00000425043.1_Intron|DCN_ENST00000393155.1_Missense_Mutation_p.K138R|DCN_ENST00000441303.2_Intron|DCN_ENST00000420120.2_Intron|DCN_ENST00000228329.5_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	138					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						CAGCTGATTCTTGGACAGATA	0.403																																																	0													139.0	134.0	135.0					12																	91552198		2203	4300	6503	SO:0001583	missense	0			AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.413A>G	12.37:g.91552198T>C	ENSP00000052754:p.Lys138Arg		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.K138R	ENST00000052754.5	37	c.413	CCDS9039.1	12	.	.	.	.	.	.	.	.	.	.	T	14.42	2.530791	0.45073	.	.	ENSG00000011465	ENST00000052754;ENST00000393155;ENST00000552962;ENST00000547937;ENST00000552145;ENST00000550563	T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42	5.69	5.69	0.88448	.	0.042962	0.85682	D	0.000000	T	0.31765	0.0807	N	0.02721	-0.515	0.80722	D	1	B	0.16396	0.017	B	0.20384	0.029	T	0.14172	-1.0482	10	0.37606	T	0.19	.	16.0168	0.80445	0.0:0.0:0.0:1.0	.	138	P07585	PGS2_HUMAN	R	138	ENSP00000052754:K138R;ENSP00000376862:K138R;ENSP00000447654:K138R;ENSP00000449782:K138R;ENSP00000447886:K138R;ENSP00000449014:K138R	ENSP00000052754:K138R	K	-	2	0	DCN	90076329	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.760000	0.62235	2.194000	0.70268	0.529000	0.55759	AAG	DCN	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	ENSG00000011465		0.403	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCN	HGNC	protein_coding	OTTHUMT00000406799.3	-	0.00	44	0	T	NM_133507		91552198	-1	tier1	-	no_errors	ENST00000052754	ensembl	human	known	74_37	missense	22.22	49	14	SNP	1.000	C
DMD	1756	genome.wustl.edu	37	X	32381009	32381009	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:32381009A>C	ENST00000357033.4	-	37	5427	c.5221T>G	c.(5221-5223)Ttg>Gtg	p.L1741V	DMD_ENST00000378677.2_Missense_Mutation_p.L1737V	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1741	Interaction with SYNM. {ECO:0000250}.				cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.L1737L(1)|p.L400L(1)|p.L1736L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTTGCCATCAAGTTTGCTGCT	0.463																																																	3	Substitution - coding silent(3)	large_intestine(3)											202.0	154.0	170.0					X																	32381009		2202	4300	6502	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.5221T>G	X.37:g.32381009A>C	ENSP00000354923:p.Leu1741Val		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ	p.L1741V	ENST00000357033.4	37	c.5221	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	A	18.54	3.645717	0.67358	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.63255	-0.03;-0.03	5.24	2.88	0.33553	.	0.000000	0.29609	U	0.011674	T	0.74321	0.3701	M	0.74881	2.28	0.80722	D	1	D;D;D;D;D	0.69078	0.996;0.996;0.997;0.997;0.997	D;D;D;D;D	0.79108	0.986;0.914;0.992;0.992;0.992	T	0.72450	-0.4290	10	0.49607	T	0.09	.	8.3658	0.32385	0.8373:0.0:0.1627:0.0	.	1733;1741;1737;400;397	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	V	1733;400;397;1737;1741;1741;1618	ENSP00000367948:L1737V;ENSP00000354923:L1741V	ENSP00000354923:L1741V	L	-	1	2	DMD	32290930	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.979000	0.40608	0.650000	0.30769	0.437000	0.28790	TTG	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.463	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	-	0.00	23	0	A	NM_004006		32381009	-1	tier1	-	no_errors	ENST00000357033	ensembl	human	known	74_37	missense	31.58	26	12	SNP	1.000	C
DNAH2	146754	genome.wustl.edu	37	17	7637950	7637950	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:7637950A>T	ENST00000572933.1	+	7	2362	c.902A>T	c.(901-903)aAg>aTg	p.K301M	DNAH2_ENST00000570791.1_Missense_Mutation_p.K301M|DNAH2_ENST00000082259.3_Missense_Mutation_p.K301M|DNAH2_ENST00000389173.2_Missense_Mutation_p.K301M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	301	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAGGGAGTGAAGCACGTTGAA	0.507																																																	0													122.0	104.0	110.0					17																	7637950		2203	4300	6503	SO:0001583	missense	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.902A>T	17.37:g.7637950A>T	ENSP00000458355:p.Lys301Met		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.K301M	ENST00000572933.1	37	c.902	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	A	17.97	3.517314	0.64634	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	T;T	0.58652	0.32;0.32	5.53	5.53	0.82687	Dynein heavy chain, domain-1 (1);	2.278230	0.01576	N	0.020832	T	0.79581	0.4470	M	0.84219	2.685	0.38713	D	0.953269	D;D	0.64830	0.989;0.994	D;D	0.66716	0.911;0.946	T	0.63037	-0.6726	10	0.87932	D	0	.	9.2106	0.37316	0.9176:0.0:0.0824:0.0	.	301;301	Q9P225;Q9P225-3	DYH2_HUMAN;.	M	301	ENSP00000373825:K301M;ENSP00000082259:K301M	ENSP00000082259:K301M	K	+	2	0	DNAH2	7578675	0.925000	0.31364	0.936000	0.37596	0.866000	0.49608	1.945000	0.40273	2.111000	0.64477	0.374000	0.22700	AAG	DNAH2	-	pfam_Dynein_heavy_dom-1	ENSG00000183914		0.507	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	-	0.00	66	0	A	NM_020877		7637950	+1	tier1	-	no_errors	ENST00000389173	ensembl	human	known	74_37	missense	74.29	9	26	SNP	0.944	T
DNAH7	56171	genome.wustl.edu	37	2	196834703	196834703	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:196834703A>C	ENST00000312428.6	-	17	2274	c.2174T>G	c.(2173-2175)cTg>cGg	p.L725R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	725	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTTCCATTCAGTATTTGAGC	0.313																																																	0													85.0	77.0	79.0					2																	196834703		1815	4074	5889	SO:0001583	missense	0			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2174T>G	2.37:g.196834703A>C	ENSP00000311273:p.Leu725Arg		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.L725R	ENST00000312428.6	37	c.2174	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	A	20.5	3.994647	0.74703	.	.	ENSG00000118997	ENST00000312428	T	0.26518	1.73	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000007	T	0.56891	0.2016	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64462	-0.6402	10	0.62326	D	0.03	.	15.2842	0.73814	1.0:0.0:0.0:0.0	.	725	Q8WXX0	DYH7_HUMAN	R	725	ENSP00000311273:L725R	ENSP00000311273:L725R	L	-	2	0	DNAH7	196542948	1.000000	0.71417	0.920000	0.36463	0.802000	0.45316	8.281000	0.89905	2.159000	0.67721	0.383000	0.25322	CTG	DNAH7	-	NULL	ENSG00000118997		0.313	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	-	0.00	44	0	A	NM_018897		196834703	-1	tier1	-	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	28.57	50	20	SNP	1.000	C
DNAJC3	5611	genome.wustl.edu	37	13	96409994	96409994	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:96409994G>A	ENST00000602402.1	+	5	607	c.490G>A	c.(490-492)Gct>Act	p.A164T	DNAJC3_ENST00000376795.6_Intron	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	164					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of protein kinase activity (GO:0006469)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum Sec complex (GO:0031205)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|vesicle (GO:0031982)	protein kinase inhibitor activity (GO:0004860)			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			AGCACTTAACGCTTTTGGAAG	0.378																																																	0													131.0	125.0	127.0					13																	96409994		2203	4300	6503	SO:0001583	missense	0			U28424	CCDS9479.1	13q32	2013-01-10			ENSG00000102580	ENSG00000102580		"""Heat shock proteins / DNAJ (HSP40)"", ""Tetratricopeptide (TTC) repeat domain containing"""	9439	protein-coding gene	gene with protein product		601184		PRKRI		7511204, 8824806	Standard	NM_006260		Approved	P58, P58IPK, HP58	uc001vmq.3	Q13217	OTTHUMG00000017227	ENST00000602402.1:c.490G>A	13.37:g.96409994G>A	ENSP00000473631:p.Ala164Thr		Q86WT9|Q8N4N2	Missense_Mutation	SNP	pfam_TPR_1,pfam_DnaJ_domain,smart_TPR_repeat,smart_DnaJ_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_DnaJ_domain,prints_DnaJ_domain	p.A164T	ENST00000602402.1	37	c.490	CCDS9479.1	13	.	.	.	.	.	.	.	.	.	.	G	10.38	1.333831	0.24253	.	.	ENSG00000102580	ENST00000376795	.	.	.	5.7	4.84	0.62591	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.428060	0.29459	N	0.012083	T	0.55705	0.1937	M	0.78285	2.405	0.43417	D	0.995567	P	0.41910	0.764	B	0.35655	0.207	T	0.57165	-0.7858	9	0.22706	T	0.39	-9.2098	14.3055	0.66382	0.0:0.0:0.8514:0.1486	.	164	Q13217	DNJC3_HUMAN	T	164	.	ENSP00000365991:A164T	A	+	1	0	DNAJC3	95207995	1.000000	0.71417	0.271000	0.24616	0.297000	0.27493	4.895000	0.63214	1.367000	0.46095	0.591000	0.81541	GCT	DNAJC3	-	pfscan_TPR-contain_dom	ENSG00000102580		0.378	DNAJC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC3	HGNC	protein_coding	OTTHUMT00000045504.3	-	0.00	50	0	G			96409994	+1	tier1	-	no_errors	ENST00000602402	ensembl	human	known	74_37	missense	17.65	28	6	SNP	0.863	A
DPP10	57628	genome.wustl.edu	37	2	115822281	115822281	+	Intron	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:115822281G>T	ENST00000410059.1	+	2	540				DPP10_ENST00000409163.1_Intron	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)							integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATTGAAGTAAGATTCTGTGAG	0.423																																																	0																																										SO:0001627	intron_variant	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.61-244534G>T	2.37:g.115822281G>T			A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	RNA	SNP	-	NULL	ENST00000410059.1	37	NULL	CCDS46400.1	2																																																																																			DPP10	-	-	ENSG00000175497		0.423	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	-	0.00	111	0	G	NM_020868		115822281	+1	tier1	-	no_errors	ENST00000492708	ensembl	human	known	74_37	rna	32.12	93	44	SNP	0.005	T
DPP10	57628	genome.wustl.edu	37	2	116447470	116447470	+	Silent	SNP	G	G	A	rs371677426		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:116447470G>A	ENST00000410059.1	+	7	1029	c.549G>A	c.(547-549)gcG>gcA	p.A183A	DPP10_ENST00000393147.2_Silent_p.A187A|DPP10_ENST00000409163.1_Silent_p.A133A|DPP10_ENST00000310323.8_Silent_p.A176A|DPP10_ENST00000488208.1_3'UTR	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	183						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGCAGTACGCGGCCTGGGGTG	0.443																																																	0								G	,,,,	1,4405	2.1+/-5.4	0,1,2202	75.0	83.0	81.0		528,561,399,537,549	-4.6	1.0	2		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	DPP10	NM_001004360.3,NM_001178034.1,NM_001178036.1,NM_001178037.1,NM_020868.3	,,,,	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	,,,,	176/790,187/801,133/747,179/793,183/797	116447470	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.549G>A	2.37:g.116447470G>A			A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.A187	ENST00000410059.1	37	c.561	CCDS46400.1	2																																																																																			DPP10	-	pfam_Peptidase_S9B	ENSG00000175497		0.443	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	-	0.00	36	0	G	NM_020868		116447470	+1	tier1	-	no_errors	ENST00000393147	ensembl	human	known	74_37	silent	40.00	18	12	SNP	0.959	A
DPYS	1807	genome.wustl.edu	37	8	105436539	105436539	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:105436539T>C	ENST00000351513.2	-	7	1303	c.1171A>G	c.(1171-1173)Aga>Gga	p.R391G	AP003471.2_ENST00000410226.1_RNA	NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	391					beta-alanine metabolic process (GO:0019482)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|uracil catabolic process (GO:0006212)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|dihydropyrimidinase activity (GO:0004157)|thymine binding (GO:0002059)|uracil binding (GO:0002058)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTCCTTTTCTTGGATAGAGA	0.373																																																	0													169.0	164.0	166.0					8																	105436539		2203	4300	6503	SO:0001583	missense	0			D78011	CCDS6302.1	8q22	2004-01-22			ENSG00000147647	ENSG00000147647			3013	protein-coding gene	gene with protein product		613326				8973361	Standard	NM_001385		Approved	DHPase	uc003yly.4	Q14117	OTTHUMG00000164891	ENST00000351513.2:c.1171A>G	8.37:g.105436539T>C	ENSP00000276651:p.Arg391Gly			Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R391G	ENST00000351513.2	37	c.1171	CCDS6302.1	8	.	.	.	.	.	.	.	.	.	.	T	18.72	3.683836	0.68157	.	.	ENSG00000147647	ENST00000351513	D	0.89939	-2.59	5.98	3.48	0.39840	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.202406	0.53938	D	0.000050	D	0.90858	0.7128	M	0.67700	2.07	0.33878	D	0.635796	P	0.49961	0.93	P	0.52710	0.707	D	0.94096	0.7357	10	0.87932	D	0	-16.3089	13.1063	0.59249	0.0:0.0:0.2514:0.7486	.	391	Q14117	DPYS_HUMAN	G	391	ENSP00000276651:R391G	ENSP00000276651:R391G	R	-	1	2	DPYS	105505715	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.380000	0.59581	1.063000	0.40649	-0.316000	0.08728	AGA	DPYS	-	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	ENSG00000147647		0.373	DPYS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYS	HGNC	protein_coding	OTTHUMT00000380814.1	-	0.00	63	0	T	NM_001385		105436539	-1	tier1	-	no_errors	ENST00000351513	ensembl	human	known	74_37	missense	10.14	124	14	SNP	1.000	C
DRGX	644168	genome.wustl.edu	37	10	50599279	50599279	+	Silent	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:50599279C>T	ENST00000374139.2	-	2	73	c.63G>A	c.(61-63)tcG>tcA	p.S21S	DRGX_ENST00000434016.1_Silent_p.S26S			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	21					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						CAAAATCCCCCGAAGAGTGAT	0.537																																																	0													44.0	44.0	44.0					10																	50599279		1911	4104	6015	SO:0001819	synonymous_variant	0				CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.63G>A	10.37:g.50599279C>T				Silent	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom	p.S26	ENST00000374139.2	37	c.78		10																																																																																			DRGX	-	NULL	ENSG00000165606		0.537	DRGX-001	KNOWN	basic|appris_principal	protein_coding	DRGX	HGNC	protein_coding	OTTHUMT00000047987.2	-	0.00	30	0	C	XM_060970		50599279	-1	tier1	-	no_errors	ENST00000434016	ensembl	human	known	74_37	silent	50.00	10	10	SNP	0.009	T
DSCAML1	57453	genome.wustl.edu	37	11	117376309	117376309	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:117376309G>A	ENST00000321322.6	-	9	2103	c.2102C>T	c.(2101-2103)tCg>tTg	p.S701L	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S431L	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	641	Ig-like C2-type 8.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGTCACGCCCGAGCCTGAGAT	0.572																																																	0													203.0	151.0	168.0					11																	117376309		2201	4296	6497	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2102C>T	11.37:g.117376309G>A	ENSP00000315465:p.Ser701Leu		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.S701L	ENST00000321322.6	37	c.2102	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	11.84	1.760123	0.31137	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.73681	-0.77;-0.77	5.06	4.15	0.48705	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61337	0.2339	L	0.28344	0.845	0.49213	D	0.999766	B	0.06786	0.001	B	0.11329	0.006	T	0.55231	-0.8173	9	0.25106	T	0.35	.	13.1494	0.59480	0.0763:0.0:0.9237:0.0	.	641	Q8TD84	DSCL1_HUMAN	L	431;701;408	ENSP00000434335:S431L;ENSP00000315465:S701L	ENSP00000315465:S701L	S	-	2	0	DSCAML1	116881519	1.000000	0.71417	0.967000	0.41034	0.988000	0.76386	5.634000	0.67833	1.353000	0.45828	0.491000	0.48974	TCG	DSCAML1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000177103		0.572	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	-	0.00	80	0	G	NM_020693		117376309	-1	tier1	-	no_errors	ENST00000321322	ensembl	human	known	74_37	missense	15.15	84	15	SNP	0.996	A
EARS2	124454	genome.wustl.edu	37	16	23555876	23555876	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:23555876C>A	ENST00000563459.1	-	3	450	c.444G>T	c.(442-444)gaG>gaT	p.E148D	EARS2_ENST00000449606.1_Missense_Mutation_p.E148D|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000564501.1_Missense_Mutation_p.E148D|EARS2_ENST00000563232.1_Missense_Mutation_p.E148D			Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	148					gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|tRNA aminoacylation for mitochondrial protein translation (GO:0070127)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|glutamate-tRNA(Gln) ligase activity (GO:0050561)|tRNA binding (GO:0000049)			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)		TCTTCAGGAGCTCCAGCCGCT	0.572																																																	0													37.0	42.0	41.0					16																	23555876		1967	4137	6104	SO:0001583	missense	0			AB075850	CCDS42132.1	16p12.2	2014-05-06	2012-10-26		ENSG00000103356	ENSG00000103356	6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"""	29419	protein-coding gene	gene with protein product	"""glutamate tRNA ligase 2, mitochondrial"""	612799	"""glutamyl-tRNA synthetase 2, mitochondrial (putative)"""			15779907, 19805282, 22492562	Standard	NM_001083614		Approved	KIAA1970, MSE1	uc002dlt.4	Q5JPH6	OTTHUMG00000177018	ENST00000563459.1:c.444G>T	16.37:g.23555876C>A	ENSP00000456467:p.Glu148Asp		B3KTT2|D3DWF1|Q86YH3|Q8TF31	Missense_Mutation	SNP	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,superfamily_aa-tRNA-synth_I_codon-bd,prints_Glu/Gln-tRNA-synth,tigrfam_Glu-tRNA-ligase_bac/mito	p.E148D	ENST00000563459.1	37	c.444	CCDS42132.1	16	.	.	.	.	.	.	.	.	.	.	C	10.80	1.451267	0.26074	.	.	ENSG00000103356	ENST00000449606;ENST00000341597	T	0.26223	1.75	5.8	3.85	0.44370	Glutamyl/glutaminyl-tRNA synthetase, class Ib, catalytic domain (1);	0.206712	0.49916	N	0.000128	T	0.19208	0.0461	L	0.38838	1.175	0.49915	D	0.999831	B;B	0.21606	0.058;0.001	B;B	0.28465	0.09;0.009	T	0.04017	-1.0984	10	0.11485	T	0.65	-2.1292	10.2839	0.43556	0.1357:0.7944:0.0:0.0699	.	148;148	Q86YH3;Q5JPH6	.;SYEM_HUMAN	D	148	ENSP00000395196:E148D	ENSP00000343488:E148D	E	-	3	2	EARS2	23463377	1.000000	0.71417	1.000000	0.80357	0.471000	0.32888	1.803000	0.38863	0.794000	0.33899	-0.136000	0.14681	GAG	EARS2	-	pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-ligase_bac/mito	ENSG00000103356		0.572	EARS2-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	EARS2	HGNC	protein_coding	OTTHUMT00000434844.1	-	0.00	27	0	C	NM_133451		23555876	-1	tier1	-	no_errors	ENST00000449606	ensembl	human	known	74_37	missense	41.38	17	12	SNP	1.000	A
EFCAB1	79645	genome.wustl.edu	37	8	49644049	49644049	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:49644049T>G	ENST00000262103.3	-	2	152	c.72A>C	c.(70-72)gaA>gaC	p.E24D	EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000523092.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	24							calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				GACAGTTCACTTCAAATTTAT	0.318																																																	0																																										SO:0001583	missense	0				CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.72A>C	8.37:g.49644049T>G	ENSP00000262103:p.Glu24Asp		B4DSB4|E7EVN7	Missense_Mutation	SNP	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin	p.E24D	ENST00000262103.3	37	c.72	CCDS6145.1	8	.	.	.	.	.	.	.	.	.	.	T	18.57	3.653348	0.67472	.	.	ENSG00000034239	ENST00000262103;ENST00000450553	T	0.72167	-0.63	4.77	3.57	0.40892	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.83220	0.5207	M	0.84683	2.71	0.52099	D	0.999948	D	0.89917	1.0	D	0.83275	0.996	D	0.83762	0.0215	10	0.87932	D	0	.	9.0786	0.36538	0.0:0.0898:0.0:0.9102	.	24	Q9HAE3	EFCB1_HUMAN	D	24	ENSP00000262103:E24D	ENSP00000262103:E24D	E	-	3	2	EFCAB1	49806602	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	0.809000	0.27168	0.904000	0.36572	0.528000	0.53228	GAA	EFCAB1	-	NULL	ENSG00000034239		0.318	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB1	HGNC	protein_coding	OTTHUMT00000377778.1	-	0.00	35	0	T	NM_024593		49644049	-1	tier1	-	no_errors	ENST00000262103	ensembl	human	known	74_37	missense	25.86	43	15	SNP	1.000	G
EIF3A	8661	genome.wustl.edu	37	10	120830510	120830510	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:120830510C>T	ENST00000369144.3	-	5	756	c.629G>A	c.(628-630)cGc>cAc	p.R210H	EIF3A_ENST00000541549.1_Missense_Mutation_p.R176H	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A	0					mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		GTTATGGTGGCGCTGAATCTG	0.428																																																	0													155.0	143.0	147.0					10																	120830510		2203	4300	6503	SO:0001583	missense	0			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.629G>A	10.37:g.120830510C>T	ENSP00000358140:p.Arg210His		B7ZBG9|Q6IBN8|Q96TD5	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.R210H	ENST00000369144.3	37	c.629	CCDS7608.1	10	.	.	.	.	.	.	.	.	.	.	C	25.4	4.635986	0.87760	.	.	ENSG00000107581	ENST00000369144;ENST00000541549	T;T	0.45276	0.9;0.9	5.69	5.69	0.88448	.	0.000000	0.40222	N	0.001152	T	0.60996	0.2312	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.61603	-0.7029	10	0.87932	D	0	-7.1464	19.813	0.96554	0.0:1.0:0.0:0.0	.	210	Q14152	EIF3A_HUMAN	H	210;176	ENSP00000358140:R210H;ENSP00000438178:R176H	ENSP00000358140:R210H	R	-	2	0	EIF3A	120820500	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.786000	0.85741	2.683000	0.91414	0.591000	0.81541	CGC	EIF3A	-	NULL	ENSG00000107581		0.428	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000050634.1	-	0.00	111	0	C	NM_003750		120830510	-1	tier1	-	no_errors	ENST00000369144	ensembl	human	known	74_37	missense	22.94	84	25	SNP	1.000	T
ELMSAN1	91748	genome.wustl.edu	37	14	74193623	74193623	+	Missense_Mutation	SNP	G	G	A	rs552919914		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr14:74193623G>A	ENST00000286523.5	-	6	2997	c.2215C>T	c.(2215-2217)Cgt>Tgt	p.R739C	ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R739C	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	739	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GCCAGGGCACGGTCCCTCATC	0.622																																																	0													50.0	45.0	47.0					14																	74193623		2203	4300	6503	SO:0001583	missense	0			BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.2215C>T	14.37:g.74193623G>A	ENSP00000286523:p.Arg739Cys		Q6PK13|Q6PK59|Q6ZS23	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.R739C	ENST00000286523.5	37	c.2215	CCDS9819.1	14	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877725	0.72294	.	.	ENSG00000156030	ENST00000394071;ENST00000286523;ENST00000423556;ENST00000435371	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	4.98	1.78	0.24846	ELM2 domain (2);	0.084418	0.47093	N	0.000253	T	0.51449	0.1675	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.98	T	0.56643	-0.7945	10	0.54805	T	0.06	-5.0463	14.9854	0.71345	0.0:0.0:0.5959:0.4041	.	739;739	A0PJD3;Q6PJG2	.;CN043_HUMAN	C	739	ENSP00000377634:R739C;ENSP00000286523:R739C;ENSP00000407767:R739C;ENSP00000402380:R739C	ENSP00000286523:R739C	R	-	1	0	C14orf43	73263376	1.000000	0.71417	0.972000	0.41901	0.996000	0.88848	1.823000	0.39062	0.639000	0.30564	0.655000	0.94253	CGT	ELMSAN1	-	pfam_ELM2_dom,pfscan_ELM2_dom	ENSG00000156030		0.622	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMSAN1	HGNC	protein_coding	OTTHUMT00000317793.1	-	0.00	59	0	G	NM_194278		74193623	-1	tier1	-	no_errors	ENST00000286523	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.997	A
ELP2	55250	genome.wustl.edu	37	18	33750037	33750037	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr18:33750037G>A	ENST00000358232.6	+	20	2151	c.2088G>A	c.(2086-2088)tgG>tgA	p.W696*	ELP2_ENST00000350494.6_Nonsense_Mutation_p.W691*|ELP2_ENST00000351393.6_Nonsense_Mutation_p.W670*|ELP2_ENST00000442325.2_Nonsense_Mutation_p.W761*|ELP2_ENST00000423854.2_Nonsense_Mutation_p.W626*|ELP2_ENST00000542824.1_Nonsense_Mutation_p.W626*	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	696					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						TGGTTGTCTGGGGTGAGTGCG	0.502																																																	0													178.0	130.0	147.0					18																	33750037		2203	4300	6503	SO:0001587	stop_gained	0			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.2088G>A	18.37:g.33750037G>A	ENSP00000350967:p.Trp696*		A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W696*	ENST00000358232.6	37	c.2088	CCDS11918.1	18	.	.	.	.	.	.	.	.	.	.	G	40	8.297073	0.98747	.	.	ENSG00000134759	ENST00000358232;ENST00000351393;ENST00000442325;ENST00000423854;ENST00000350494;ENST00000542824	.	.	.	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.7447	13.0019	0.58681	0.0:0.0:1.0:0.0	.	.	.	.	X	696;670;761;626;691;626	.	ENSP00000316051:W691X	W	+	3	0	ELP2	32004035	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	8.143000	0.89621	2.440000	0.82611	0.591000	0.81541	TGG	ELP2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000134759		0.502	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2	-	0.00	148	0	G	NM_018255		33750037	+1	tier1	-	no_errors	ENST00000358232	ensembl	human	known	74_37	nonsense	36.51	80	46	SNP	1.000	A
D87024.1	0	genome.wustl.edu	37	22	23198781	23198781	+	RNA	SNP	T	T	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr22:23198781T>A	ENST00000385097.1	+	0	62																											TGGGCTCTGCTCCTCCTCACC	0.662																																																	0																																												0																															22.37:g.23198781T>A				RNA	SNP	-	NULL	ENST00000385097.1	37	NULL		22																																																																																			D87024.1	-	-	ENSG00000207832		0.662	D87024.1-201	NOVEL	basic	miRNA	ENSG00000207832	Clone_based_ensembl_gene	miRNA		-	0.00	77	0	T			23198781	+1	tier1	-	no_errors	ENST00000385097	ensembl	human	novel	74_37	rna	41.86	50	36	SNP	0.005	A
BX088651.1	0	genome.wustl.edu	37	9	44402133	44402133	+	Silent	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr9:44402133C>T	ENST00000540551.1	-	1	294	c.123G>A	c.(121-123)gcG>gcA	p.A41A	RP11-475I24.3_ENST00000435586.1_lincRNA																							CGCCTTCCACCGCCTCTGGTT	0.632																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000540551.1:c.123G>A	9.37:g.44402133C>T				Silent	SNP	NULL	p.A41	ENST00000540551.1	37	c.123		9																																																																																			BX088651.1	-	NULL	ENSG00000212952		0.632	BX088651.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000212952	Clone_based_ensembl_gene	protein_coding		-	0.00	46	0	C			44402133	-1	tier1	-	no_errors	ENST00000540551	ensembl	human	known	74_37	silent	31.11	31	14	SNP	0.002	T
BX119917.1	0	genome.wustl.edu	37	X	71372219	71372219	+	RNA	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:71372219A>G	ENST00000401114.1	-	0	45																											acacacacacacacacacaca	0.527																																																	0																																												0																															X.37:g.71372219A>G				RNA	SNP	-	NULL	ENST00000401114.1	37	NULL		X																																																																																			BX119917.1	-	-	ENSG00000215933		0.527	BX119917.1-201	NOVEL	basic	miRNA	ENSG00000215933	Clone_based_ensembl_gene	miRNA		-	0.00	45	0	A			71372219	-1	tier1	-	no_errors	ENST00000401114	ensembl	human	novel	74_37	rna	6.32	89	6	SNP	0.003	G
AL391417.1	0	genome.wustl.edu	37	6	87183253	87183253	+	RNA	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:87183253T>C	ENST00000408174.1	-	0	60																											tttctctaactcatctgggta	0.527																																																	0																																												0																															6.37:g.87183253T>C				RNA	SNP	-	NULL	ENST00000408174.1	37	NULL		6																																																																																			AL391417.1	-	-	ENSG00000221101		0.527	AL391417.1-201	NOVEL	basic	miRNA	ENSG00000221101	Clone_based_ensembl_gene	miRNA		-	0.00	64	0	T			87183253	-1	tier1	-	no_errors	ENST00000408174	ensembl	human	novel	74_37	rna	18.60	70	16	SNP	0.060	C
AP001482.1	0	genome.wustl.edu	37	11	88845968	88845969	+	RNA	INS	-	-	AC	rs10609035|rs376991850|rs371137229		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:88845968_88845969insAC	ENST00000408203.1	+	0	91_92																											catacatacatatatatatata	0.218																																																	0																																												0																															11.37:g.88845968_88845969insAC				RNA	INS	-	NULL	ENST00000408203.1	37	NULL		11																																																																																			AP001482.1	-	-	ENSG00000221130		0.218	AP001482.1-201	NOVEL	basic	miRNA	ENSG00000221130	Clone_based_ensembl_gene	miRNA			0.00	8	0	-			88845969	+1	tier1		no_errors	ENST00000408203	ensembl	human	novel	74_37	rna	40.00	9	6	INS	0.026:0.027	AC
LOC730100	730100	genome.wustl.edu	37	2	51662261	51662261	+	lincRNA	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:51662261A>C	ENST00000440698.1	+	0	694				AC007402.1_ENST00000410760.1_RNA																							ATGTGTCTCAAGTATATGTGC	0.308																																																	0																																												0																															2.37:g.51662261A>C				RNA	SNP	-	NULL	ENST00000440698.1	37	NULL		2																																																																																			AC007402.1	-	-	ENSG00000222692		0.308	AC007682.1-001	KNOWN	mRNA_start_NF|basic	lincRNA	ENSG00000222692	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000291399.3	-	0.00	35	0	A			51662261	-1	tier1	-	no_errors	ENST00000410760	ensembl	human	novel	74_37	rna	15.79	32	6	SNP	0.068	C
RP11-166B2.1	0	genome.wustl.edu	37	16	12031444	12031444	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:12031444G>A	ENST00000399147.4	-	2	144	c.145C>T	c.(145-147)Ccg>Tcg	p.P49S	RP11-166B2.1_ENST00000532936.1_5'UTR																lung(2)	2						TAACTTCTCGGAAATGCAATA	0.378																																																	0																																										SO:0001583	missense	0																														ENST00000399147.4:c.145C>T	16.37:g.12031444G>A	ENSP00000382101:p.Pro49Ser			Missense_Mutation	SNP	NULL	p.P49S	ENST00000399147.4	37	c.145		16	.	.	.	.	.	.	.	.	.	.	G	9.029	0.986914	0.18889	.	.	ENSG00000234719	ENST00000399147;ENST00000547494	T;T	0.40756	1.02;1.02	.	.	.	.	.	.	.	.	T	0.43700	0.1259	.	.	.	.	.	.	.	.	.	.	.	.	T	0.55108	-0.8192	3	0.87932	D	0	.	.	.	.	.	.	.	.	S	49	ENSP00000382101:P49S;ENSP00000448752:P49S	ENSP00000382101:P49S	P	-	1	0	RP11-166B2.1	11938945	0.044000	0.20184	0.022000	0.16811	0.026000	0.11368	0.089000	0.15002	0.064000	0.16427	0.064000	0.15345	CCG	RP11-166B2.1	-	NULL	ENSG00000234719		0.378	RP11-166B2.1-001	PUTATIVE	basic|appris_principal	protein_coding	ENSG00000234719	Clone_based_vega_gene	protein_coding	OTTHUMT00000388781.3	-	0.00	201	0	G			12031444	-1	tier1	-	no_errors	ENST00000399147	ensembl	human	putative	74_37	missense	19.75	256	63	SNP	0.023	A
AC104169.1	0	genome.wustl.edu	37	1	85258800	85258800	+	RNA	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:85258800A>C	ENST00000516090.1	-	0	82																											ttttagtataagtatgtccca	0.358																																																	0																																												0																															1.37:g.85258800A>C				RNA	SNP	-	NULL	ENST00000516090.1	37	NULL		1																																																																																			AC104169.1	-	-	ENSG00000251899		0.358	AC104169.1-201	NOVEL	basic	miRNA	ENSG00000251899	Clone_based_ensembl_gene	miRNA		-	0.00	35	0	A			85258800	-1	tier1	-	no_errors	ENST00000516090	ensembl	human	novel	74_37	rna	36.84	36	21	SNP	0.074	C
CSAD	51380	genome.wustl.edu	37	12	53553787	53553787	+	Intron	SNP	C	C	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:53553787C>A	ENST00000444623.1	-	15	1434				CSAD_ENST00000453446.2_Intron|CSAD_ENST00000267085.4_Intron|RP11-1136G11.8_ENST00000550908.1_lincRNA|CSAD_ENST00000379843.3_Intron|CSAD_ENST00000379846.1_Intron	NM_001244705.1	NP_001231634.1	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase						cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)		pyridoxal phosphate binding (GO:0030170)|sulfinoalanine decarboxylase activity (GO:0004782)			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)	AGAAGAGGCCCACGTAGAATG	0.567											OREG0021859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(109;252 1546 16882 28524 44645)												0													53.0	54.0	54.0					12																	53553787		692	1591	2283	SO:0001627	intron_variant	0			AB044561	CCDS8848.2, CCDS58235.1	12q13.11-q14.3	2008-08-04			ENSG00000139631	ENSG00000139631			18966	protein-coding gene	gene with protein product	"""P-selectin cytoplasmic tail-associated protein"""					15489334	Standard	NM_015989		Approved	PCAP, CSD	uc001sbz.3	Q9Y600	OTTHUMG00000048076	ENST00000444623.1:c.1167-65G>T	12.37:g.53553787C>A		993	A8K0U4|Q4QQH9|Q9UNJ5|Q9Y601	RNA	SNP	-	NULL	ENST00000444623.1	37	NULL	CCDS58235.1	12																																																																																			RP11-1136G11.8	-	-	ENSG00000257808		0.567	CSAD-017	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000257808	Clone_based_vega_gene	protein_coding	OTTHUMT00000343697.1	-	0.00	16	0	C	NM_015989		53553787	+1	tier1	-	no_errors	ENST00000550908	ensembl	human	known	74_37	rna	30.43	16	7	SNP	0.000	A
RP11-964E11.2	0	genome.wustl.edu	37	14	37117219	37117219	+	RNA	SNP	C	C	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr14:37117219C>A	ENST00000555107.1	-	0	1681																											CTCTAGTGGTCTCGGCCGGAG	0.677											OREG0022660	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												0																															14.37:g.37117219C>A		868		RNA	SNP	-	NULL	ENST00000555107.1	37	NULL		14																																																																																			RP11-964E11.2	-	-	ENSG00000258661		0.677	RP11-964E11.2-001	KNOWN	basic	antisense	ENSG00000258661	Clone_based_vega_gene	antisense	OTTHUMT00000410133.1	-	0.00	139	0	C			37117219	-1	tier1	-	no_errors	ENST00000555107	ensembl	human	known	74_37	rna	22.02	85	24	SNP	0.000	A
ARHGDIA	396	genome.wustl.edu	37	17	79826044	79826044	+	3'UTR	SNP	G	G	A	rs563695856		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:79826044G>A	ENST00000269321.7	-	0	1458				ARHGDIA_ENST00000400721.4_3'UTR|ARHGDIA_ENST00000582520.1_Intron|RP11-498C9.3_ENST00000576021.1_RNA|RP11-498C9.3_ENST00000576554.1_RNA	NM_001185078.1|NM_004309.4	NP_001172007.1|NP_004300.1	P52565	GDIR1_HUMAN	Rho GDP dissociation inhibitor (GDI) alpha						cellular component movement (GO:0006928)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of axonogenesis (GO:0050772)|regulation of axonogenesis (GO:0050770)|regulation of protein localization (GO:0032880)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)	GTPase activator activity (GO:0005096)|Rho GDP-dissociation inhibitor activity (GO:0005094)			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCCCCAAGCCGCCGGAGCCAT	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		17385	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001624	3_prime_UTR_variant	0			BC028333	CCDS11788.1, CCDS58609.1	17q25.3	2005-12-20				ENSG00000141522			678	protein-coding gene	gene with protein product		601925		GDIA1		9186513	Standard	NM_001185077		Approved	RHOGDI	uc002kbq.3	P52565		ENST00000269321.7:c.*708C>T	17.37:g.79826044G>A			A8MXW0|B2R5X1|B4DDD3|B4DUV9|Q6IBM5	RNA	SNP	-	NULL	ENST00000269321.7	37	NULL	CCDS11788.1	17																																																																																			RP11-498C9.3	-	-	ENSG00000262413		0.627	ARHGDIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000262413	Clone_based_vega_gene	protein_coding	OTTHUMT00000441679.2	-	0.00	72	0	G	NM_004309		79826044	+1	tier1	-	no_errors	ENST00000576021	ensembl	human	known	74_37	rna	60.71	33	51	SNP	0.000	A
RP11-340I6.7	0	genome.wustl.edu	37	7	63361498	63361498	+	lincRNA	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:63361498T>G	ENST00000587736.1	-	0	0				RP11-340I6.8_ENST00000450544.1_lincRNA|AC092634.1_ENST00000585312.1_RNA																							ACCTCGCCCTTGTCAAACTGG	0.642																																																	0																																												0																															7.37:g.63361498T>G				RNA	SNP	-	NULL	ENST00000587736.1	37	NULL		7																																																																																			AC092634.1	-	-	ENSG00000263891		0.642	RP11-340I6.7-003	KNOWN	basic	lincRNA	ENSG00000263891	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000447757.1	-	0.00	27	0	T			63361498	+1	tier1	-	no_errors	ENST00000585312	ensembl	human	novel	74_37	rna	37.50	15	9	SNP	0.003	G
MAGEA5	4104	genome.wustl.edu	37	X	151284158	151284158	+	RNA	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:151284158T>G	ENST00000509345.2	-	0	253																											CTTACAGATCTTCTCCTTTGG	0.537																																																	0																																												0																															X.37:g.151284158T>G				RNA	SNP	-	NULL	ENST00000509345.2	37	NULL		X																																																																																			RP11-1007I13.4	-	-	ENSG00000266560		0.537	RP11-1007I13.4-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000266560	Clone_based_vega_gene	processed_transcript	OTTHUMT00000445981.1	-	0.00	28	0	T			151284158	-1	tier1	-	no_errors	ENST00000509345	ensembl	human	known	74_37	rna	30.67	51	23	SNP	0.002	G
AC004899.1	0	genome.wustl.edu	37	7	48887563	48887563	+	Silent	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:48887563C>T	ENST00000596947.1	+	1	202	c.63C>T	c.(61-63)cgC>cgT	p.R21R																								CCCAGCGGCGCGGGTCCTGCA	0.617																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000596947.1:c.63C>T	7.37:g.48887563C>T				Silent	SNP	NULL	p.R21	ENST00000596947.1	37	c.63		7																																																																																			AC004899.1	-	NULL	ENSG00000267970		0.617	AC004899.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000267970	Clone_based_ensembl_gene	protein_coding		-	0.00	58	0	C			48887563	+1	tier1	-	no_errors	ENST00000596947	ensembl	human	known	74_37	silent	28.57	35	14	SNP	0.070	T
DPH5	51611	genome.wustl.edu	37	1	101456192	101456193	+	Intron	INS	-	-	A	rs375338713		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:101456192_101456193insA	ENST00000370109.3	-	8	747				DPH5_ENST00000342173.7_Intron|AC093157.1_ENST00000593496.1_Frame_Shift_Ins_p.K63fs|DPH5_ENST00000427040.2_Intron|DPH5_ENST00000370105.3_Intron|DPH5_ENST00000488176.1_Intron	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		diphthine synthase activity (GO:0004164)			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TAACTGCTATTAAAAAAAAAAG	0.416																																																	0																																										SO:0001627	intron_variant	0			AF132964	CCDS41358.1, CCDS41359.1	1p21.2	2013-05-02	2013-05-02		ENSG00000117543	ENSG00000117543			24270	protein-coding gene	gene with protein product		611075	"""DPH5 homolog (S. cerevisiae)"""			15485916, 23486472	Standard	NM_015958		Approved	CGI-30	uc001dtt.2	Q9H2P9	OTTHUMG00000010829	ENST00000370109.3:c.635-5->T	1.37:g.101456202_101456202dupA			A8JZY6|D3DT62|Q9P017|Q9P0I4|Q9Y319	Frame_Shift_Ins	INS	NULL	p.R65fs	ENST00000370109.3	37	c.186_187	CCDS41358.1	1																																																																																			AC093157.1	-	NULL	ENSG00000269175		0.416	DPH5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000269175	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000029881.1		0.00	24	0	-	NM_015958		101456193	+1	tier1		no_errors	ENST00000593496	ensembl	human	known	74_37	frame_shift_ins	14.63	35	6	INS	0.576:0.002	A
PTCH1	5727	genome.wustl.edu	37	9	98268576	98268576	+	Intron	SNP	G	G	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr9:98268576G>C	ENST00000331920.6	-	2	694				PTCH1_ENST00000548379.1_5'Flank|PTCH1_ENST00000418258.1_Intron|PTCH1_ENST00000430669.2_Intron|PTCH1_ENST00000375274.2_Intron|PTCH1_ENST00000437951.1_Intron|PTCH1_ENST00000429896.2_Intron|RP11-435O5.5_ENST00000604104.1_RNA|PTCH1_ENST00000421141.1_Intron|PTCH1_ENST00000468211.2_Intron	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1						brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				CCGGGTGCGGGCAGGGGGTTT	0.726																																																	0																																										SO:0001627	intron_variant	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.394+112C>G	9.37:g.98268576G>C			A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	RNA	SNP	-	NULL	ENST00000331920.6	37	NULL	CCDS6714.1	9																																																																																			RP11-435O5.5	-	-	ENSG00000271155		0.726	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000271155	Clone_based_vega_gene	protein_coding	OTTHUMT00000053229.2	-	0.00	14	0	G	NM_000264		98268576	+1	tier1	-	no_errors	ENST00000604104	ensembl	human	known	74_37	rna	77.78	2	7	SNP	0.971	C
CCDC85A	114800	genome.wustl.edu	37	2	56612188	56612188	+	3'UTR	DEL	T	T	-			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:56612188delT	ENST00000407595.2	+	0	2862				RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A											breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TAAATATATCTTTTTTTTTCA	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB067499	CCDS46290.1	2p16.1	2006-03-29			ENSG00000055813	ENSG00000055813			29400	protein-coding gene	gene with protein product						11572484	Standard	NM_001080433		Approved	KIAA1912	uc002rzn.3	Q96PX6	OTTHUMG00000152033	ENST00000407595.2:c.*698T>-	2.37:g.56612188delT				RNA	DEL	-	NULL	ENST00000407595.2	37	NULL	CCDS46290.1	2																																																																																			RP11-482H16.1	-	-	ENSG00000271894		0.328	CCDC85A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000271894	Clone_based_vega_gene	protein_coding	OTTHUMT00000324993.1		0.00	43	0	T			56612188	+1	tier1		no_errors	ENST00000607540	ensembl	human	known	74_37	rna	23.08	40	12	DEL	0.005	-
LOC102723968	102723968	genome.wustl.edu	37	13	64411581	64411581	+	lincRNA	DEL	A	A	-			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:64411581delA	ENST00000607822.1	-	0	2159				RP11-394A14.4_ENST00000606894.1_lincRNA																							AAACACTGAGAAAAAAAAAAA	0.527																																																	0																																												0																															13.37:g.64411581delA				RNA	DEL	-	NULL	ENST00000607822.1	37	NULL		13																																																																																			RP11-394A14.4	-	-	ENSG00000272299		0.527	RP11-394A14.2-002	KNOWN	basic	lincRNA	ENSG00000272299	Clone_based_vega_gene	lincRNA	OTTHUMT00000471084.1		0.00	15	0	A			64411581	-1	tier1		no_errors	ENST00000606894	ensembl	human	known	74_37	rna	31.25	11	5	DEL	0.288	-
EPHA5	2044	genome.wustl.edu	37	4	66201750	66201750	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:66201750C>T	ENST00000273854.3	-	16	3352	c.2752G>A	c.(2752-2754)Gag>Aag	p.E918K	EPHA5_ENST00000354839.4_Missense_Mutation_p.E896K|EPHA5_ENST00000511294.1_Missense_Mutation_p.E919K|EPHA5_ENST00000432638.2_Missense_Mutation_p.E755K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	918	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CTATTTCGCTCTTTCTGCCAG	0.468										TSP Lung(17;0.13)																																							0													152.0	133.0	140.0					4																	66201750		2203	4299	6502	SO:0001583	missense	0			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2752G>A	4.37:g.66201750C>T	ENSP00000273854:p.Glu918Lys		Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E918K	ENST00000273854.3	37	c.2752	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	C	23.5	4.423335	0.83559	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	5.93	5.93	0.95920	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.091326	0.47093	D	0.000257	T	0.58963	0.2159	N	0.17800	0.525	0.26800	N	0.969221	P;B;P;P	0.36733	0.567;0.196;0.512;0.471	B;B;B;B	0.43445	0.42;0.13;0.295;0.146	T	0.60078	-0.7333	10	0.87932	D	0	.	20.3539	0.98825	0.0:1.0:0.0:0.0	.	897;919;896;918	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	K	918;755;896;919	ENSP00000273854:E918K;ENSP00000389208:E755K;ENSP00000346899:E896K;ENSP00000427638:E919K	ENSP00000273854:E918K	E	-	1	0	EPHA5	65884345	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GAG	EPHA5	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000145242		0.468	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	-	0.00	34	0	C	NM_004439		66201750	-1	tier1	-	no_errors	ENST00000273854	ensembl	human	known	74_37	missense	31.71	28	13	SNP	1.000	T
EXT1	2131	genome.wustl.edu	37	8	118825191	118825191	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:118825191delT	ENST00000378204.2	-	8	2448	c.1642delA	c.(1642-1644)agcfs	p.S548fs		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	548	Substrate binding. {ECO:0000250|UniProtKB:Q9ES89}.				axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AGAAAACGGCTGCTCATAACC	0.517			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																														yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0			GRCh37	CD012248	EXT1	D							141.0	111.0	121.0					8																	118825191		2203	4300	6503	SO:0001589	frameshift_variant	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.1642delA	8.37:g.118825191delT	ENSP00000367446:p.Ser548fs		B2R7V2|Q9BVI9	Frame_Shift_Del	DEL	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.S548fs	ENST00000378204.2	37	c.1642	CCDS6324.1	8																																																																																			EXT1	-	pfam_HexNAc_Trfase_a	ENSG00000182197		0.517	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	HGNC	protein_coding	OTTHUMT00000132768.3		0.00	19	0	T	NM_000127		118825191	-1	tier1		no_errors	ENST00000378204	ensembl	human	known	74_37	frame_shift_del	75.38	16	49	DEL	1.000	-
FAM102B	284611	genome.wustl.edu	37	1	109148850	109148850	+	Frame_Shift_Del	DEL	A	A	-	rs557160620		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:109148850delA	ENST00000370035.3	+	3	604	c.264delA	c.(262-264)ttafs	p.L88fs	FAM102B_ENST00000405454.1_Frame_Shift_Del_p.L88fs	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	88										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		GGCAGGAATTAAAAGGTGGAA	0.269																																																	0													89.0	91.0	90.0					1																	109148850		2203	4297	6500	SO:0001589	frameshift_variant	0			CR749397	CCDS30786.2	1p13.3	2012-11-05			ENSG00000162636	ENSG00000162636			27637	protein-coding gene	gene with protein product	"""sym-3 homolog B (C. elegans)"""						Standard	NM_001010883		Approved	DKFZp779B126, SYM-3B	uc010ouy.2	Q5T8I3	OTTHUMG00000010967	ENST00000370035.3:c.264delA	1.37:g.109148850delA	ENSP00000359052:p.Leu88fs		A1L1A1|B0QZ46|B0QZ47|Q68DH7	Frame_Shift_Del	DEL	pfam_NT-C2	p.G90fs	ENST00000370035.3	37	c.264	CCDS30786.2	1																																																																																			FAM102B	-	pfam_NT-C2	ENSG00000162636		0.269	FAM102B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM102B	HGNC	protein_coding	OTTHUMT00000030188.3		0.00	84	0	A	NM_001010883		109148850	+1	tier1		no_errors	ENST00000370035	ensembl	human	known	74_37	frame_shift_del	26.73	74	27	DEL	1.000	-
FAM174A	345757	genome.wustl.edu	37	5	99921888	99921888	+	Silent	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:99921888A>G	ENST00000312637.4	+	3	799	c.573A>G	c.(571-573)taA>taG	p.*191*	FAM174A_ENST00000505792.1_3'UTR	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	0						integral component of membrane (GO:0016021)				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CTTGCAGATAAGAATGTGCCT	0.303																																																	0													41.0	51.0	47.0					5																	99921888		2186	4255	6441	SO:0001819	synonymous_variant	0			AY359108	CCDS4090.1	5q21.1	2008-06-19	2008-06-19	2008-06-19	ENSG00000174132	ENSG00000174132			24943	protein-coding gene	gene with protein product			"""transmembrane protein 157"""	TMEM157		12975309	Standard	NM_198507		Approved	UNQ1912	uc003knj.1	Q8TBP5	OTTHUMG00000128726	ENST00000312637.4:c.573A>G	5.37:g.99921888A>G			A8K0H4	Silent	SNP	pfam_DUF1180	p.*191	ENST00000312637.4	37	c.573	CCDS4090.1	5																																																																																			FAM174A	-	NULL	ENSG00000174132		0.303	FAM174A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	FAM174A	HGNC	protein_coding	OTTHUMT00000250631.2	-	0.00	24	0	A	NM_198507		99921888	+1	tier1	-	no_errors	ENST00000312637	ensembl	human	known	74_37	silent	46.15	21	18	SNP	1.000	G
FAM182A	284800	genome.wustl.edu	37	20	26061832	26061832	+	RNA	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:26061832A>C	ENST00000376398.2	+	0	852					NR_026713.1		Q5T1J6	F182A_HUMAN	family with sequence similarity 182, member A											breast(1)|endometrium(2)|kidney(1)	4						AGAAATGGTGAGAGAACTTTG	0.473																																																	0													20.0	16.0	17.0					20																	26061832		692	1588	2280			0			AL391119		20p11	2013-03-18	2008-08-05	2008-08-05	ENSG00000125804	ENSG00000125804			16222	other	unknown			"""chromosome 20 open reading frame 91"""	C20orf91			Standard	NR_026713		Approved	bB329D4.1, C20orf91A	uc010gdq.3	Q5T1J6	OTTHUMG00000032144		20.37:g.26061832A>C			A2RRD0|Q8N947	RNA	SNP	-	NULL	ENST00000376398.2	37	NULL		20																																																																																			FAM182A	-	-	ENSG00000125804		0.473	FAM182A-001	KNOWN	basic	lincRNA	FAM182A	HGNC	processed_transcript	OTTHUMT00000078473.2	-	0.00	26	0	A			26061832	+1	tier1	-	no_errors	ENST00000376398	ensembl	human	known	74_37	rna	28.00	18	7	SNP	0.200	C
FAM71C	196472	genome.wustl.edu	37	12	100043066	100043066	+	Splice_Site	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:100043066G>A	ENST00000324341.1	+	2	1038	c.616G>A	c.(616-618)Gga>Aga	p.G206R	ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000547776.2_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	206										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		CTCTCCCTAGGGATATGCCAT	0.373																																																	0													157.0	153.0	154.0					12																	100043066		2203	4300	6503	SO:0001630	splice_region_variant	0				CCDS9072.1	12q23.1	2006-02-03				ENSG00000180219			28594	protein-coding gene	gene with protein product						12477932	Standard	NM_153364		Approved	MGC39520	uc001tgn.3	Q8NEG0		ENST00000324341.1:c.616-1G>A	12.37:g.100043066G>A			B2R6Y6	Missense_Mutation	SNP	pfam_DUF3699	p.G206R	ENST00000324341.1	37	c.616	CCDS9072.1	12	.	.	.	.	.	.	.	.	.	.	G	9.190	1.025742	0.19512	.	.	ENSG00000180219	ENST00000324341	T	0.09255	3.0	3.56	0.601	0.17529	.	2.150120	0.02300	N	0.071058	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.04013	0.001	T	0.31943	-0.9925	9	.	.	.	0.6869	2.8293	0.05495	0.2441:0.0:0.5346:0.2213	.	206	Q8NEG0	FA71C_HUMAN	R	206	ENSP00000315247:G206R	.	G	+	1	0	FAM71C	98567197	0.060000	0.20803	0.002000	0.10522	0.032000	0.12392	0.178000	0.16820	0.117000	0.18138	0.650000	0.86243	GGA	FAM71C	-	NULL	ENSG00000180219		0.373	FAM71C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71C	HGNC	protein_coding	OTTHUMT00000408458.1	-	0.00	47	0	G	NM_153364	Missense_Mutation	100043066	+1	tier1	-	no_errors	ENST00000324341	ensembl	human	known	74_37	missense	12.82	68	10	SNP	0.003	A
FAT4	79633	genome.wustl.edu	37	4	126336175	126336175	+	Silent	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:126336175A>G	ENST00000394329.3	+	5	6070	c.6057A>G	c.(6055-6057)caA>caG	p.Q2019Q	FAT4_ENST00000335110.5_Silent_p.Q317Q	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2019	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGTTGTTCAAGTGCATGACC	0.433																																																	0													157.0	160.0	159.0					4																	126336175		2203	4300	6503	SO:0001819	synonymous_variant	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6057A>G	4.37:g.126336175A>G			A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Q2019	ENST00000394329.3	37	c.6057	CCDS3732.3	4																																																																																			FAT4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000196159		0.433	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	-	0.00	49	0	A	NM_024582		126336175	+1	tier1	-	no_errors	ENST00000394329	ensembl	human	known	74_37	silent	35.56	28	16	SNP	0.958	G
FHL5	9457	genome.wustl.edu	37	6	97063607	97063607	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:97063607T>G	ENST00000326771.2	+	7	1194	c.814T>G	c.(814-816)Ttc>Gtc	p.F272V	FHL5_ENST00000541107.1_Missense_Mutation_p.F272V	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	272	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CAAGGAAATCTTCTGCCAAAA	0.483																																																	0													88.0	84.0	85.0					6																	97063607		2203	4300	6503	SO:0001583	missense	0			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.814T>G	6.37:g.97063607T>G	ENSP00000326022:p.Phe272Val		B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.F272V	ENST00000326771.2	37	c.814	CCDS5035.1	6	.	.	.	.	.	.	.	.	.	.	T	15.81	2.942945	0.53079	.	.	ENSG00000112214	ENST00000541107;ENST00000326771	D;D	0.86297	-2.1;-2.1	5.66	4.3	0.51218	Zinc finger, LIM-type (4);	0.181468	0.27168	N	0.020601	T	0.68659	0.3025	L	0.38175	1.15	0.37342	D	0.910432	B	0.13594	0.008	B	0.12156	0.007	T	0.69892	-0.5022	10	0.52906	T	0.07	.	5.2576	0.15555	0.0:0.2539:0.0:0.7461	.	272	Q5TD97	FHL5_HUMAN	V	272	ENSP00000442357:F272V;ENSP00000326022:F272V	ENSP00000326022:F272V	F	+	1	0	FHL5	97170328	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	3.163000	0.50763	2.146000	0.66826	0.533000	0.62120	TTC	FHL5	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000112214		0.483	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL5	HGNC	protein_coding	OTTHUMT00000041559.1	-	0.00	12	0	T	NM_020482		97063607	+1	tier1	-	no_errors	ENST00000326771	ensembl	human	known	74_37	missense	42.86	16	12	SNP	1.000	G
FLJ22763	401081	genome.wustl.edu	37	3	108868897	108868897	+	lincRNA	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:108868897G>A	ENST00000467240.1	+	0	1879					NR_033977.1																						CAGTAGTTATGAAAACCCATG	0.313																																																	0																																												0																															3.37:g.108868897G>A				RNA	SNP	-	NULL	ENST00000467240.1	37	NULL		3																																																																																			RP11-59E19.1	-	-	ENSG00000241224		0.313	RP11-59E19.1-001	KNOWN	basic	lincRNA	FLJ22763	Clone_based_vega_gene	lincRNA	OTTHUMT00000353832.1		0.00	9	0	G			108868897	+1			no_errors	ENST00000467240	ensembl	human	known	74_37	rna	11.54	23	3	SNP	0.000	A
FNDC3B	64778	genome.wustl.edu	37	3	172050929	172050929	+	Silent	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:172050929G>T	ENST00000336824.4	+	14	1704	c.1605G>T	c.(1603-1605)gtG>gtT	p.V535V	FNDC3B_ENST00000416957.1_Silent_p.V535V|FNDC3B_ENST00000415807.2_Silent_p.V535V	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	535	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell migration (GO:0016477)|negative regulation of osteoblast differentiation (GO:0045668)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast proliferation (GO:0048146)|substrate adhesion-dependent cell spreading (GO:0034446)|Type II pneumocyte differentiation (GO:0060510)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCTGTACTGTGAAAAATCTCA	0.358																																																	0													115.0	122.0	120.0					3																	172050929		2203	4300	6503	SO:0001819	synonymous_variant	0			AF543840	CCDS3217.1	3q26.31	2013-11-06			ENSG00000075420	ENSG00000075420		"""Fibronectin type III domain containing"""	24670	protein-coding gene	gene with protein product		611909				15527760	Standard	NM_022763		Approved	FAD104, DKFZp762K137, FLJ23399, PRO4979, YVTM2421	uc003fhy.3	Q53EP0	OTTHUMG00000156761	ENST00000336824.4:c.1605G>T	3.37:g.172050929G>T			B2RB36|B3KXR8|D3DNQ7|Q5U5T8|Q6PIJ3|Q6UXG1|Q6UXZ5|Q8IXB2|Q8NBU7|Q96D78|Q9H5I7|Q9NSQ8	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.V535	ENST00000336824.4	37	c.1605	CCDS3217.1	3																																																																																			FNDC3B	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000075420		0.358	FNDC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3B	HGNC	protein_coding	OTTHUMT00000345618.2		0.00	22	0	G	NM_022763		172050929	+1			no_errors	ENST00000336824	ensembl	human	known	74_37	silent	6.56	57	4	SNP	1.000	T
GABRA6	2559	genome.wustl.edu	37	5	161117215	161117215	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:161117215G>T	ENST00000274545.5	+	7	1115	c.682G>T	c.(682-684)Gtt>Ttt	p.V228F	RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000523217.1_Missense_Mutation_p.V218F			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	228					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.V228I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	AGGTGAATACGTTATAATGAC	0.358										TCGA Ovarian(5;0.080)																																							1	Substitution - Missense(1)	large_intestine(1)											129.0	114.0	119.0					5																	161117215		2203	4300	6503	SO:0001583	missense	0				CCDS4356.1	5q34	2012-06-22			ENSG00000145863	ENSG00000145863		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4080	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 6"""	137143				8020978	Standard	NM_000811		Approved		uc003lyu.2	Q16445	OTTHUMG00000130351	ENST00000274545.5:c.682G>T	5.37:g.161117215G>T	ENSP00000274545:p.Val228Phe		A8K096|Q4VAV2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.V228F	ENST00000274545.5	37	c.682	CCDS4356.1	5	.	.	.	.	.	.	.	.	.	.	G	20.1	3.938643	0.73557	.	.	ENSG00000145863	ENST00000274545;ENST00000523217;ENST00000517823;ENST00000523691	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.56	4.68	0.58851	Neurotransmitter-gated ion-channel ligand-binding (3);	0.236515	0.43110	D	0.000612	D	0.84115	0.5401	M	0.71206	2.165	0.52501	D	0.999952	P	0.43231	0.801	P	0.57911	0.829	D	0.84923	0.0855	10	0.72032	D	0.01	.	10.1013	0.42507	0.1491:0.0:0.8509:0.0	.	228	Q16445	GBRA6_HUMAN	F	228;218;175;148	ENSP00000274545:V228F;ENSP00000430527:V218F;ENSP00000430212:V175F;ENSP00000427989:V148F	ENSP00000274545:V228F	V	+	1	0	GABRA6	161049793	1.000000	0.71417	0.991000	0.47740	0.976000	0.68499	3.534000	0.53568	2.607000	0.88179	0.655000	0.94253	GTT	GABRA6	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel	ENSG00000145863		0.358	GABRA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA6	HGNC	protein_coding	OTTHUMT00000252707.2	-	0.00	63	0	G			161117215	+1	tier1	-	no_errors	ENST00000274545	ensembl	human	known	74_37	missense	6.78	55	4	SNP	0.996	T
GNAS	2778	genome.wustl.edu	37	20	57430199	57430199	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:57430199C>T	ENST00000371100.4	+	1	2431	c.1879C>T	c.(1879-1881)Cag>Tag	p.Q627*	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Nonsense_Mutation_p.Q627*|GNAS_ENST00000306120.3_Silent_p.P563P|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371102.4_Nonsense_Mutation_p.Q627*|GNAS_ENST00000313949.7_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TGAGAGTCCCCAGCCCAAAGC	0.627			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0													24.0	28.0	27.0					20																	57430199		1973	4157	6130	SO:0001587	stop_gained	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1879C>T	20.37:g.57430199C>T	ENSP00000360141:p.Gln627*		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Nonsense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.Q627*	ENST00000371100.4	37	c.1879	CCDS46622.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.02|18.02	3.530685|3.530685	0.64860|0.64860	.|.	.|.	ENSG00000087460|ENSG00000087460	ENST00000450130|ENST00000371099;ENST00000371100;ENST00000371102	D|.	0.88896|.	-2.44|.	3.84|3.84	-2.13|-2.13	0.07144|0.07144	.|.	.|5.153130	.|0.00935	.|N	.|0.002768	T|.	0.51466|.	0.1676|.	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.56111|.	-0.8033|.	6|.	0.49607|0.46703	T|T	0.09|0.11	.|.	15.318|15.318	0.74095|0.74095	0.0:0.2501:0.7499:0.0|0.0:0.2501:0.7499:0.0	.|.	.|.	.|.	.|.	L|X	13|627	ENSP00000412424:P13L|.	ENSP00000412424:P13L|ENSP00000360140:Q627X	P|Q	+|+	2|1	0|0	GNAS|GNAS	56863594|56863594	0.001000|0.001000	0.12720|0.12720	0.009000|0.009000	0.14445|0.14445	0.091000|0.091000	0.18340|0.18340	0.391000|0.391000	0.20784|0.20784	-0.446000|-0.446000	0.07149|0.07149	-0.502000|-0.502000	0.04539|0.04539	CCA|CAG	GNAS	-	NULL	ENSG00000087460		0.627	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080417.3	-	0.00	34	0	C	NM_000516		57430199	+1	tier1	-	no_errors	ENST00000371100	ensembl	human	putative	74_37	nonsense	38.46	32	20	SNP	0.001	T
GOLGB1	2804	genome.wustl.edu	37	3	121383820	121383820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:121383820G>A	ENST00000340645.5	-	21	9723	c.9598C>T	c.(9598-9600)Cag>Tag	p.Q3200*	GOLGB1_ENST00000393667.3_Nonsense_Mutation_p.Q3210*	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	3200					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GCCTGCTCCTGAGTGCCACAG	0.458																																																	0													108.0	103.0	105.0					3																	121383820		2203	4300	6503	SO:0001587	stop_gained	0			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.9598C>T	3.37:g.121383820G>A	ENSP00000341848:p.Gln3200*		B2ZZ91|D3DN92|E7EP74|Q14398	Nonsense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.Q3200*	ENST00000340645.5	37	c.9598	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	G	50	17.078678	0.99878	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	.	.	.	5.42	4.53	0.55603	.	0.211846	0.33732	N	0.004615	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	11.8313	0.52297	0.0:0.1759:0.8241:0.0	.	.	.	.	X	3200;3210	.	ENSP00000341848:Q3200X	Q	-	1	0	GOLGB1	122866510	0.999000	0.42202	1.000000	0.80357	0.922000	0.55478	3.645000	0.54389	1.474000	0.48178	0.655000	0.94253	CAG	GOLGB1	-	NULL	ENSG00000173230		0.458	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	-	0.00	50	0	G	NM_004487		121383820	-1	tier1	-	no_errors	ENST00000340645	ensembl	human	known	74_37	nonsense	22.12	88	25	SNP	0.996	A
GPRASP2	114928	genome.wustl.edu	37	X	101971323	101971323	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:101971323G>A	ENST00000535209.1	+	4	2357	c.1526G>A	c.(1525-1527)cGa>cAa	p.R509Q	GPRASP2_ENST00000332262.5_Missense_Mutation_p.R509Q|GPRASP2_ENST00000543253.1_Missense_Mutation_p.R509Q			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	509						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GTTGGCTTCCGATCCACAAGC	0.512																																																	0													70.0	66.0	67.0					X																	101971323		2203	4300	6503	SO:0001583	missense	0			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1526G>A	X.37:g.101971323G>A	ENSP00000437394:p.Arg509Gln		D3DXA0|Q8NAB4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.R509Q	ENST00000535209.1	37	c.1526	CCDS14501.1	X	.	.	.	.	.	.	.	.	.	.	G	1.618	-0.522156	0.04171	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.08008	3.14;3.14;3.14	4.44	2.67	0.31697	.	0.150727	0.31461	N	0.007601	T	0.03608	0.0103	N	0.08118	0	0.19775	N	0.99996	B	0.10296	0.003	B	0.01281	0.0	T	0.41360	-0.9513	10	0.27785	T	0.31	.	5.3938	0.16259	0.0:0.6824:0.2044:0.1132	.	509	Q96D09	GASP2_HUMAN	Q	509	ENSP00000437872:R509Q;ENSP00000437394:R509Q;ENSP00000339057:R509Q	ENSP00000339057:R509Q	R	+	2	0	GPRASP2	101857979	0.668000	0.27493	0.729000	0.30791	0.001000	0.01503	1.194000	0.32174	0.617000	0.30160	-0.976000	0.02587	CGA	GPRASP2	-	NULL	ENSG00000158301		0.512	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP2	HGNC	protein_coding	OTTHUMT00000057626.2	-	0.00	25	0	G	NM_138437		101971323	+1	tier1	-	no_errors	ENST00000332262	ensembl	human	known	74_37	missense	37.50	20	12	SNP	0.674	A
GRM1	2911	genome.wustl.edu	37	6	146350735	146350735	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:146350735T>A	ENST00000282753.1	+	1	317	c.82T>A	c.(82-84)Ttg>Atg	p.L28M	GRM1_ENST00000355289.4_Missense_Mutation_p.L28M|GRM1_ENST00000507907.1_Missense_Mutation_p.L28M|GRM1_ENST00000392299.2_Missense_Mutation_p.L28M|GRM1_ENST00000361719.2_Missense_Mutation_p.L28M|GRM1_ENST00000492807.2_Missense_Mutation_p.L28M			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	28					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CAGGAAAGTGTTGCTGGCAGG	0.582																																																	0													100.0	117.0	111.0					6																	146350735		2203	4300	6503	SO:0001583	missense	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.82T>A	6.37:g.146350735T>A	ENSP00000282753:p.Leu28Met		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5	p.L28M	ENST00000282753.1	37	c.82	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	T	10.75	1.438555	0.25900	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.88664	-2.36;-2.41;-2.41;-2.36;-2.41;-2.41	5.57	-5.0	0.03001	.	0.415861	0.25006	N	0.033869	T	0.46483	0.1395	N	0.03608	-0.345	0.09310	N	1	P;B;B;P	0.36315	0.547;0.001;0.412;0.547	B;B;B;B	0.31812	0.136;0.003;0.064;0.136	T	0.62006	-0.6945	10	0.30854	T	0.27	.	5.9941	0.19483	0.2009:0.3661:0.0:0.433	.	28;28;23;28	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	M	28	ENSP00000354896:L28M;ENSP00000376119:L28M;ENSP00000424095:L28M;ENSP00000282753:L28M;ENSP00000347437:L28M;ENSP00000425599:L28M	ENSP00000282753:L28M	L	+	1	2	GRM1	146392428	0.001000	0.12720	0.022000	0.16811	0.926000	0.56050	-0.645000	0.05409	-0.464000	0.06963	0.459000	0.35465	TTG	GRM1	-	prints_GPCR_3_mtglu_rcpt_1	ENSG00000152822		0.582	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	-	0.00	30	0	T	NM_000838		146350735	+1	tier1	-	no_errors	ENST00000282753	ensembl	human	known	74_37	missense	57.38	26	35	SNP	0.001	A
GRM7	2917	genome.wustl.edu	37	3	7188173	7188173	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:7188173A>G	ENST00000357716.4	+	2	828	c.554A>G	c.(553-555)gAg>gGg	p.E185G	GRM7_ENST00000402647.2_Missense_Mutation_p.E185G|GRM7_ENST00000389336.4_Missense_Mutation_p.E185G|GRM7_ENST00000486284.1_Missense_Mutation_p.E185G|GRM7_ENST00000403881.1_Missense_Mutation_p.E185G	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	185					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						ACGGCACCCGAGCTAAGTGAT	0.517																																																	0													130.0	115.0	120.0					3																	7188173		2203	4300	6503	SO:0001583	missense	0			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.554A>G	3.37:g.7188173A>G	ENSP00000350348:p.Glu185Gly		Q8NFS2|Q8NFS3|Q8NFS4	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_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4	p.E185G	ENST00000357716.4	37	c.554	CCDS43042.1	3	.	.	.	.	.	.	.	.	.	.	A	18.83	3.706602	0.68615	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67;-1.67	5.74	5.74	0.90152	Extracellular ligand-binding receptor (1);	0.117044	0.56097	D	0.000030	D	0.90256	0.6953	M	0.78049	2.395	0.80722	D	1	D;D;D	0.76494	0.999;0.991;0.998	D;D;D	0.75484	0.986;0.982;0.978	D	0.88732	0.3237	10	0.27785	T	0.31	.	15.1655	0.72821	1.0:0.0:0.0:0.0	.	185;185;185	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	G	185	ENSP00000350348:E185G;ENSP00000417536:E185G;ENSP00000373987:E185G;ENSP00000385664:E185G;ENSP00000384585:E185G	ENSP00000350348:E185G	E	+	2	0	GRM7	7163173	1.000000	0.71417	0.989000	0.46669	0.032000	0.12392	9.287000	0.95975	2.317000	0.78254	0.460000	0.39030	GAG	GRM7	-	pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I	ENSG00000196277		0.517	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	-	0.00	37	0	A	NM_000844		7188173	+1	tier1	-	no_errors	ENST00000402647	ensembl	human	known	74_37	missense	43.48	26	20	SNP	1.000	G
GUCY1A2	2977	genome.wustl.edu	37	11	106680972	106680972	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:106680972delT	ENST00000526355.2	-	5	1907	c.1439delA	c.(1438-1440)cacfs	p.H480fs	GUCY1A2_ENST00000282249.2_Frame_Shift_Del_p.H480fs|GUCY1A2_ENST00000347596.2_Frame_Shift_Del_p.H501fs	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	480					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CAGGGCCTGGTGAGTTCTTTC	0.448																																																	0													127.0	131.0	130.0					11																	106680972		2201	4298	6499	SO:0001589	frameshift_variant	0			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1439delA	11.37:g.106680972delT	ENSP00000431245:p.His480fs		A1L4C4|B7ZLT5	Frame_Shift_Del	DEL	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.H480fs	ENST00000526355.2	37	c.1439	CCDS8335.1	11																																																																																			GUCY1A2	-	pfam_Haem_no_assoc-bd	ENSG00000152402		0.448	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2		0.00	54	0	T			106680972	-1	tier1		no_errors	ENST00000282249	ensembl	human	known	74_37	frame_shift_del	44.23	29	23	DEL	1.000	-
HCK	3055	genome.wustl.edu	37	20	30659496	30659496	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:30659496G>T	ENST00000520553.1	+	2	277	c.31G>T	c.(31-33)Gtc>Ttc	p.V11F	HCK_ENST00000534862.1_Missense_Mutation_p.V12F|HCK_ENST00000538448.1_Missense_Mutation_p.V11F|HCK_ENST00000518730.1_Missense_Mutation_p.V11F|HCK_ENST00000375862.2_Missense_Mutation_p.V32F|HCK_ENST00000375852.2_Missense_Mutation_p.V32F	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	32					cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	GTTCCTCCAGGTCGGAGGCAA	0.567																																																	0													123.0	105.0	111.0					20																	30659496		2203	4300	6503	SO:0001583	missense	0			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.31G>T	20.37:g.30659496G>T	ENSP00000429848:p.Val11Phe		A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.V32F	ENST00000520553.1	37	c.94	CCDS54455.1	20	.	.	.	.	.	.	.	.	.	.	G	11.25	1.581906	0.28180	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	T;T;T;T;T;T	0.73897	-0.79;-0.78;-0.79;-0.78;-0.79;-0.79	4.28	-0.0832	0.13695	.	1.528840	0.03982	N	0.293422	T	0.58133	0.2101	N	0.08118	0	0.09310	N	1	B;B	0.22800	0.075;0.0	B;B	0.34452	0.183;0.001	T	0.52609	-0.8553	10	0.56958	D	0.05	.	3.6054	0.08041	0.1964:0.0:0.4372:0.3664	.	11;32	P08631-3;P08631	.;HCK_HUMAN	F	12;11;32;11;11;32	ENSP00000444986:V12F;ENSP00000441169:V11F;ENSP00000365022:V32F;ENSP00000429848:V11F;ENSP00000427757:V11F;ENSP00000365012:V32F	ENSP00000365012:V32F	V	+	1	0	HCK	30123157	0.000000	0.05858	0.000000	0.03702	0.138000	0.21146	0.005000	0.13129	-0.054000	0.13266	-0.681000	0.03757	GTC	HCK	-	NULL	ENSG00000101336		0.567	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	HCK	HGNC	protein_coding	OTTHUMT00000375751.1	-	0.00	63	0	G			30659496	+1	tier1	-	no_errors	ENST00000375852	ensembl	human	known	74_37	missense	18.37	80	18	SNP	0.000	T
HCN1	348980	genome.wustl.edu	37	5	45645460	45645460	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:45645460A>G	ENST00000303230.4	-	2	733	c.676T>C	c.(676-678)Ttc>Ctc	p.F226L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	226					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GATGAGATGAAGTCAACCACA	0.393																																																	0													83.0	76.0	79.0					5																	45645460		2203	4299	6502	SO:0001583	missense	0			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.676T>C	5.37:g.45645460A>G	ENSP00000307342:p.Phe226Leu			Missense_Mutation	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.F226L	ENST00000303230.4	37	c.676	CCDS3952.1	5	.	.	.	.	.	.	.	.	.	.	A	11.03	1.519777	0.27211	.	.	ENSG00000164588	ENST00000303230	D	0.98849	-5.18	5.37	5.37	0.77165	Ion transport (1);	0.000000	0.64402	D	0.000007	D	0.94951	0.8367	N	0.12527	0.23	0.80722	D	1	B	0.18741	0.03	B	0.20577	0.03	D	0.93305	0.6680	10	0.12430	T	0.62	.	15.3658	0.74519	1.0:0.0:0.0:0.0	.	226	O60741	HCN1_HUMAN	L	226	ENSP00000307342:F226L	ENSP00000307342:F226L	F	-	1	0	HCN1	45681217	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.038000	0.60285	0.454000	0.30748	TTC	HCN1	-	pfam_Ion_trans_dom	ENSG00000164588		0.393	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN1	HGNC	protein_coding	OTTHUMT00000253847.1	-	0.00	35	0	A	NM_021072		45645460	-1	tier1	-	no_errors	ENST00000303230	ensembl	human	known	74_37	missense	33.33	28	14	SNP	1.000	G
HDAC9	9734	genome.wustl.edu	37	7	18806744	18806744	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:18806744A>C	ENST00000432645.2	+	15	2171	c.2171A>C	c.(2170-2172)aAg>aCg	p.K724T	HDAC9_ENST00000441542.2_Missense_Mutation_p.K727T|HDAC9_ENST00000406451.4_Missense_Mutation_p.K724T|HDAC9_ENST00000401921.1_Missense_Mutation_p.K683T	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	724	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GACTCTCAAAAGTTTTTTTCC	0.259																																																	0													55.0	53.0	53.0					7																	18806744		1792	4057	5849	SO:0001583	missense	0			AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2171A>C	7.37:g.18806744A>C	ENSP00000410337:p.Lys724Thr		A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.K727T	ENST00000432645.2	37	c.2180	CCDS47555.1	7	.	.	.	.	.	.	.	.	.	.	A	18.05	3.536472	0.65085	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	5.06	5.06	0.68205	Histone deacetylase domain (2);	0.000000	0.64402	D	0.000004	T	0.68769	0.3037	L	0.47078	1.49	0.80722	D	1	B;D;D;D;D;P	0.76494	0.435;0.999;0.989;0.991;0.989;0.948	B;D;D;D;D;P	0.78314	0.058;0.991;0.969;0.982;0.969;0.684	T	0.69394	-0.5157	10	0.49607	T	0.09	-43.9099	13.8393	0.63428	1.0:0.0:0.0:0.0	.	724;683;727;724;724;702	Q9UKV0-4;Q9UKV0-6;Q9UKV0-7;Q9UKV0;Q9UKV0-5;Q8N879	.;.;.;HDAC9_HUMAN;.;.	T	724;683;724;727;636	ENSP00000384657:K724T;ENSP00000383912:K683T;ENSP00000410337:K724T;ENSP00000408617:K727T	ENSP00000339165:K636T	K	+	2	0	HDAC9	18773269	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.937000	0.63513	2.246000	0.74042	0.533000	0.62120	AAG	HDAC9	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk	ENSG00000048052		0.259	HDAC9-023	KNOWN	basic|CCDS	protein_coding	HDAC9	HGNC	protein_coding	OTTHUMT00000376176.1	-	0.00	61	0	A			18806744	+1	tier1	-	no_errors	ENST00000441542	ensembl	human	known	74_37	missense	35.00	26	14	SNP	1.000	C
HEPH	9843	genome.wustl.edu	37	X	65486415	65486415	+	Silent	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:65486415T>G	ENST00000343002.2	+	20	4042	c.3378T>G	c.(3376-3378)ctT>ctG	p.L1126L	HEPH_ENST00000374727.3_Silent_p.L1129L|HEPH_ENST00000441993.2_Silent_p.L1128L|HEPH_ENST00000519389.1_Silent_p.L1180L|HEPH_ENST00000336279.5_Silent_p.L859L|HEPH_ENST00000419594.1_Silent_p.L937L			Q9BQS7	HEPH_HUMAN	hephaestin	1126					cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						TTCTGGCTCTTGGTGGAGTGG	0.483																																																	0													297.0	194.0	229.0					X																	65486415		2203	4300	6503	SO:0001819	synonymous_variant	0			AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3378T>G	X.37:g.65486415T>G			B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Silent	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.L1180	ENST00000343002.2	37	c.3540		X																																																																																			HEPH	-	NULL	ENSG00000089472		0.483	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	HEPH	HGNC	protein_coding	OTTHUMT00000056995.1	-	0.00	37	0	T	NM_138737		65486415	+1	tier1	-	no_errors	ENST00000519389	ensembl	human	known	74_37	silent	6.76	69	5	SNP	0.249	G
HMBS	3145	genome.wustl.edu	37	11	118960710	118960710	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:118960710C>A	ENST00000278715.3	+	7	506	c.355C>A	c.(355-357)Cct>Act	p.P119T	HMBS_ENST00000392841.1_Missense_Mutation_p.P102T|HMBS_ENST00000442944.2_Missense_Mutation_p.P102T|HMBS_ENST00000537841.1_Missense_Mutation_p.P102T|HMBS_ENST00000542729.1_Missense_Mutation_p.P102T|HMBS_ENST00000534956.1_3'UTR|HMBS_ENST00000544387.1_Missense_Mutation_p.P119T|HMBS_ENST00000543090.1_Missense_Mutation_p.P101T	NM_000190.3	NP_000181.2	P08397	HEM3_HUMAN	hydroxymethylbilane synthase	119			P -> L (in AIP). {ECO:0000269|PubMed:8825929, ECO:0000269|PubMed:9225970}.		heme biosynthetic process (GO:0006783)|peptidyl-pyrromethane cofactor linkage (GO:0018160)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	hydroxymethylbilane synthase activity (GO:0004418)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		GCGGGAAAACCCTCATGATGC	0.502																																																	0													89.0	94.0	93.0					11																	118960710		2200	4295	6495	SO:0001583	missense	0			X04808	CCDS8409.1, CCDS41726.1, CCDS58186.1, CCDS58187.1	11q23.3	2013-07-10			ENSG00000256269	ENSG00000256269	2.5.1.61		4982	protein-coding gene	gene with protein product		609806	"""uroporphyrinogen I synthase"", ""porphobilinogen deaminase"", ""porphyria, acute; Chester type"""	PBGD, UPS, PORC		8432552, 17298217	Standard	NM_001258208		Approved		uc001puz.1	P08397	OTTHUMG00000168295	ENST00000278715.3:c.355C>A	11.37:g.118960710C>A	ENSP00000278715:p.Pro119Thr		A8K2L0|G3V1P4|G5EA58|P08396|Q16012	Missense_Mutation	SNP	pfam_Porphobilin_deaminase_N,pfam_Porphobilinogen_deaminase_C,superfamily_Porphobilinogen_deaminase_C,pirsf_4pyrrol_synth_OHMeBilane_synth,prints_4pyrrol_synth_OHMeBilane_synth,tigrfam_4pyrrol_synth_OHMeBilane_synth	p.P119T	ENST00000278715.3	37	c.355	CCDS8409.1	11	.	.	.	.	.	.	.	.	.	.	C	27.7	4.858958	0.91433	.	.	ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000256269;ENSG00000149397	ENST00000278715;ENST00000536813;ENST00000537841;ENST00000542729;ENST00000546302;ENST00000544387;ENST00000543090;ENST00000539986;ENST00000535253;ENST00000392841;ENST00000442944	D;D;D;D;D;D;D;D;D;D;D	0.99727	-6.55;-6.55;-6.55;-6.55;-6.55;-6.55;-6.55;-6.55;-6.55;-6.55;-6.55	6.17	6.17	0.99709	Porphobilinogen deaminase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99753	0.9901	M	0.87381	2.88	0.80722	D	1	D;D;D;P;D	0.89917	1.0;1.0;1.0;0.842;1.0	D;D;D;P;D	0.97110	0.999;0.999;0.999;0.868;1.0	D	0.97942	1.0326	10	0.87932	D	0	-16.4589	19.8676	0.96824	0.0:1.0:0.0:0.0	.	102;102;101;119;119	P08397-2;G3V1P4;F5H345;G5EA58;P08397	.;.;.;.;HEM3_HUMAN	T	119;113;102;102;93;119;101;102;102;102;102	ENSP00000278715:P119T;ENSP00000438726:P113T;ENSP00000444730:P102T;ENSP00000443058:P102T;ENSP00000445599:P93T;ENSP00000438424:P119T;ENSP00000445429:P101T;ENSP00000440092:P102T;ENSP00000442079:P102T;ENSP00000376584:P102T;ENSP00000392041:P102T	ENSP00000392041:P102T	P	+	1	0	CTD-2589C9.4;HMBS	118465920	1.000000	0.71417	0.952000	0.39060	0.614000	0.37383	7.578000	0.82498	2.941000	0.99782	0.655000	0.94253	CCT	HMBS	-	pfam_Porphobilin_deaminase_N,pirsf_4pyrrol_synth_OHMeBilane_synth,tigrfam_4pyrrol_synth_OHMeBilane_synth	ENSG00000256269		0.502	HMBS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMBS	HGNC	protein_coding	OTTHUMT00000399188.1	-	0.00	67	0	C	NM_000190		118960710	+1	tier1	-	no_errors	ENST00000278715	ensembl	human	known	74_37	missense	10.11	80	9	SNP	1.000	A
HNRNPUL1	11100	genome.wustl.edu	37	19	41807528	41807528	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:41807528G>A	ENST00000392006.3	+	11	1779	c.1606G>A	c.(1606-1608)Gag>Aag	p.E536K	HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.E447K|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.E436K|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.E422K|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.E436K|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.E436K|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.E536K	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	536	Necessary for interaction with BRD7 and transcriptional activation.|Necessary for interaction with TP53.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TCCCACTGACGAGGACCTAAA	0.458																																																	0													147.0	128.0	134.0					19																	41807528		2203	4300	6503	SO:0001583	missense	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.1606G>A	19.37:g.41807528G>A	ENSP00000375863:p.Glu536Lys		B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_dom,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom	p.E536K	ENST00000392006.3	37	c.1606	CCDS12576.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.155744	0.97334	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	T;T;T;T	0.49139	0.79;0.79;0.79;0.79	6.06	6.06	0.98353	.	0.047878	0.85682	D	0.000000	T	0.72220	0.3433	M	0.80508	2.5	0.54753	D	0.999986	D;D;D;D;D;D	0.89917	0.978;0.987;1.0;1.0;0.978;0.993	P;P;D;D;P;P	0.73708	0.832;0.903;0.981;0.944;0.832;0.843	T	0.73959	-0.3818	10	0.87932	D	0	-25.0351	19.3958	0.94607	0.0:0.0:1.0:0.0	.	447;436;536;422;536;436	B7Z4B8;A8K3W4;Q9BUJ2-2;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	K	436;536;422;447	ENSP00000340857:E436K;ENSP00000375863:E536K;ENSP00000367460:E422K;ENSP00000263367:E447K	ENSP00000263367:E447K	E	+	1	0	HNRNPUL1	46499368	1.000000	0.71417	0.982000	0.44146	0.916000	0.54674	6.720000	0.74723	2.879000	0.98667	0.650000	0.86243	GAG	HNRNPUL1	-	superfamily_P-loop_NTPase	ENSG00000105323		0.458	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1	-	0.00	28	0	G	NM_144732, NM_007040		41807528	+1	tier1	-	no_errors	ENST00000392006	ensembl	human	known	74_37	missense	24.49	37	12	SNP	1.000	A
HSPA4L	22824	genome.wustl.edu	37	4	128726323	128726323	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:128726323G>C	ENST00000296464.4	+	9	1492	c.1081G>C	c.(1081-1083)Gac>Cac	p.D361H	HSPA4L_ENST00000439123.2_Missense_Mutation_p.D392H|HSPA4L_ENST00000505726.1_Missense_Mutation_p.D335H|HSPA4L_ENST00000508776.1_Missense_Mutation_p.D361H	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	361					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTTTCTTAAAGACATAAGTAC	0.333																																																	0													57.0	57.0	57.0					4																	128726323		2203	4297	6500	SO:0001583	missense	0			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1081G>C	4.37:g.128726323G>C	ENSP00000296464:p.Asp361His		A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.D392H	ENST00000296464.4	37	c.1174	CCDS3734.1	4	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548251	0.65311	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000508549;ENST00000505726	T;T;T;T;T	0.01084	5.36;5.36;5.36;5.36;5.36	4.71	4.71	0.59529	.	0.051650	0.85682	D	0.000000	T	0.05044	0.0135	L	0.50847	1.595	0.80722	D	1	D;D;D	0.71674	0.966;0.998;0.998	D;D;D	0.68483	0.958;0.951;0.951	T	0.44772	-0.9306	10	0.62326	D	0.03	.	18.2081	0.89861	0.0:0.0:1.0:0.0	.	335;361;361	E9PDE8;A2ICT2;O95757	.;.;HS74L_HUMAN	H	361;392;361;320;335	ENSP00000422482:D361H;ENSP00000393926:D392H;ENSP00000296464:D361H;ENSP00000427305:D320H;ENSP00000425645:D335H	ENSP00000296464:D361H	D	+	1	0	HSPA4L	128945773	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.845000	0.92153	2.609000	0.88269	0.655000	0.94253	GAC	HSPA4L	-	pfam_Hsp_70_fam,pfam_MreB_Mrl	ENSG00000164070		0.333	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA4L	HGNC	protein_coding	OTTHUMT00000257096.3	-	0.00	36	0	G	NM_014278		128726323	+1	tier1	-	no_errors	ENST00000439123	ensembl	human	known	74_37	missense	46.43	15	13	SNP	1.000	C
IGSF22	283284	genome.wustl.edu	37	11	18733790	18733790	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:18733790T>G	ENST00000513874.1	-	15	2376	c.2237A>C	c.(2236-2238)aAg>aCg	p.K746T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	745	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						AATCCAGGACTTCTTGCCAAC	0.527																																																	0													159.0	129.0	138.0					11																	18733790		692	1591	2283	SO:0001583	missense	0			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2237A>C	11.37:g.18733790T>G	ENSP00000421191:p.Lys746Thr		A6NNA0|D6RGV7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K746T	ENST00000513874.1	37	c.2237	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	t	13.00	2.105783	0.37145	.	.	ENSG00000179057	ENST00000513874	T	0.56611	0.45	4.24	3.11	0.35812	.	.	.	.	.	T	0.22475	0.0542	N	0.02539	-0.55	0.21527	N	0.99966	B	0.21606	0.058	B	0.25614	0.062	T	0.24905	-1.0147	9	0.15066	T	0.55	.	3.6544	0.08215	0.0:0.2028:0.1939:0.6034	.	746	D6RGV7	.	T	746	ENSP00000421191:K746T	ENSP00000421191:K746T	K	-	2	0	IGSF22	18690366	0.991000	0.36638	1.000000	0.80357	0.993000	0.82548	1.781000	0.38644	0.694000	0.31654	-0.262000	0.10625	AAG	IGSF22	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000179057		0.527	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	-	0.00	84	0	T	NM_173588		18733790	-1	tier1	-	no_errors	ENST00000513874	ensembl	human	known	74_37	missense	37.21	54	32	SNP	0.974	G
INHBA	3624	genome.wustl.edu	37	7	41730006	41730006	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:41730006delG	ENST00000242208.4	-	3	769	c.523delC	c.(523-525)ctcfs	p.L175fs	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000442711.1_Frame_Shift_Del_p.L175fs|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	175					activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGCTGGAAGAGGCGGATGGTG	0.582										TSP Lung(11;0.080)																																							0													106.0	99.0	101.0					7																	41730006		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.523delC	7.37:g.41730006delG	ENSP00000242208:p.Leu175fs		Q14599	Frame_Shift_Del	DEL	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaA,prints_Inhibin_asu	p.L175fs	ENST00000242208.4	37	c.523	CCDS5464.1	7																																																																																			INHBA	-	pfam_TGF-b_N	ENSG00000122641		0.582	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1		0.00	30	0	G			41730006	-1	tier1		no_errors	ENST00000242208	ensembl	human	known	74_37	frame_shift_del	35.94	41	23	DEL	0.999	-
IVL	3713	genome.wustl.edu	37	1	152882791	152882791	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:152882791T>C	ENST00000368764.3	+	2	582	c.518T>C	c.(517-519)cTg>cCg	p.L173P	IVL_ENST00000392667.2_Missense_Mutation_p.L27P			P07476	INVO_HUMAN	involucrin	173	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gagggacagctgaagcacccg	0.627																																																	0													24.0	26.0	25.0					1																	152882791		2203	4299	6502	SO:0001583	missense	0			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.518T>C	1.37:g.152882791T>C	ENSP00000357753:p.Leu173Pro		Q5T7P4	Missense_Mutation	SNP	pfam_Involucrin_N,pfam_Involucrin_rpt	p.L173P	ENST00000368764.3	37	c.518	CCDS1030.1	1	.	.	.	.	.	.	.	.	.	.	T	10.37	1.331340	0.24167	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.12672	2.92;2.66	3.38	-5.2	0.02823	.	.	.	.	.	T	0.02929	0.0087	L	0.46157	1.445	0.09310	N	1	B	0.29909	0.261	B	0.30316	0.114	T	0.42932	-0.9422	9	0.30078	T	0.28	.	3.9727	0.09460	0.4921:0.3123:0.0:0.1956	.	173	P07476	INVO_HUMAN	P	173;27	ENSP00000357753:L173P;ENSP00000376435:L27P	ENSP00000357753:L173P	L	+	2	0	IVL	151149415	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.461000	0.06712	-0.478000	0.06823	-0.483000	0.04790	CTG	IVL	-	pfam_Involucrin_rpt	ENSG00000163207		0.627	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVL	HGNC	protein_coding	OTTHUMT00000034664.1	-	0.00	50	0	T	NM_005547		152882791	+1	tier1	-	no_errors	ENST00000368764	ensembl	human	known	74_37	missense	20.83	76	20	SNP	0.000	C
KCNA1	3736	genome.wustl.edu	37	12	5021058	5021058	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:5021058G>A	ENST00000382545.3	+	2	1621	c.514G>A	c.(514-516)Gtc>Atc	p.V172I	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	172					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|juxtaparanode region of axon (GO:0044224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|potassium ion transmembrane transporter activity (GO:0015079)			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Amitriptyline(DB00321)|Dalfampridine(DB06637)|Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Nifedipine(DB01115)|Sevoflurane(DB01236)	CATCGCCATCGTCTCCGTCAT	0.632																																																	0													86.0	85.0	85.0					12																	5021058		2203	4300	6503	SO:0001583	missense	0			L02750	CCDS8535.1	12p13	2012-07-05			ENSG00000111262	ENSG00000111262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6218	protein-coding gene	gene with protein product		176260		AEMK		1349297, 8821794, 16382104	Standard	NM_000217		Approved	Kv1.1, RBK1, HUK1, MBK1	uc001qnh.3	Q09470	OTTHUMG00000044398	ENST00000382545.3:c.514G>A	12.37:g.5021058G>A	ENSP00000371985:p.Val172Ile		A6NM83|Q3MIQ9	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_Kv1,prints_K_chnl_volt-dep_Kv1.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv1.3	p.V172I	ENST00000382545.3	37	c.514	CCDS8535.1	12	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459319	0.26248	.	.	ENSG00000111262	ENST00000382545;ENST00000228858	T	0.76060	-0.99	4.71	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.67505	0.2900	L	0.48260	1.515	0.58432	D	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.62115	-0.6922	10	0.16420	T	0.52	.	17.1898	0.86876	0.0:0.0:1.0:0.0	.	172	Q09470	KCNA1_HUMAN	I	172	ENSP00000371985:V172I	ENSP00000228858:V172I	V	+	1	0	KCNA1	4891319	1.000000	0.71417	0.980000	0.43619	0.955000	0.61496	3.066000	0.50002	2.606000	0.88127	0.655000	0.94253	GTC	KCNA1	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv1	ENSG00000111262		0.632	KCNA1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KCNA1	HGNC	protein_coding	OTTHUMT00000103343.2	-	0.00	40	0	G	NM_000217		5021058	+1	tier1	-	no_errors	ENST00000382545	ensembl	human	known	74_37	missense	44.00	28	22	SNP	0.996	A
KCNH2	3757	genome.wustl.edu	37	7	150648207	150648207	+	Splice_Site	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:150648207G>A	ENST00000262186.5	-	8	2348	c.1947C>T	c.(1945-1947)tcC>tcT	p.S649S	KCNH2_ENST00000330883.4_Splice_Site_p.S309S|KCNH2_ENST00000430723.3_Splice_Site_p.S649S|KCNH2_ENST00000392968.2_Splice_Site_p.S553S	NM_000238.3	NP_000229.1	Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	649					cardiac muscle contraction (GO:0060048)|cellular response to drug (GO:0035690)|membrane depolarization during action potential (GO:0086010)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of potassium ion export (GO:1902303)|negative regulation of potassium ion transmembrane transport (GO:1901380)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|identical protein binding (GO:0042802)|inward rectifier potassium channel activity (GO:0005242)|phosphorelay sensor kinase activity (GO:0000155)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Cisapride(DB00604)|Dofetilide(DB00204)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Halofantrine(DB01218)|Ibutilide(DB00308)|Imipramine(DB00458)|Miconazole(DB01110)|Pimozide(DB01100)|Prazosin(DB00457)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terazosin(DB01162)|Thioridazine(DB00679)|Verapamil(DB00661)	CATACATGAGGGCTGGGGGCG	0.667																																					GBM(137;110 1844 13671 20123 45161)												0													40.0	38.0	39.0					7																	150648207		2203	4300	6503	SO:0001630	splice_region_variant	0			U04270	CCDS5910.1, CCDS5911.1	7q36.1	2014-09-17			ENSG00000055118	ENSG00000055118		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6251	protein-coding gene	gene with protein product		152427		LQT2		18616963, 7842012, 8159766, 16382104	Standard	NM_000238		Approved	Kv11.1, HERG, erg1	uc003wic.3	Q12809	OTTHUMG00000158341	ENST00000262186.5:c.1946-1C>T	7.37:g.150648207G>A			A5H1P7|C4PFH9|D3DX04|O75418|O75680|Q708S9|Q9BT72|Q9BUT7|Q9H3P0	Silent	SNP	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS	p.S649	ENST00000262186.5	37	c.1947	CCDS5910.1	7																																																																																			KCNH2	-	pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom	ENSG00000055118		0.667	KCNH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH2	HGNC	protein_coding	OTTHUMT00000350741.2	-	0.00	22	0	G	NM_000238	Silent	150648207	-1	tier1	-	no_errors	ENST00000262186	ensembl	human	known	74_37	silent	25.00	15	5	SNP	0.994	A
KIAA1024	23251	genome.wustl.edu	37	15	79755565	79755565	+	Missense_Mutation	SNP	G	G	A	rs542789268		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr15:79755565G>A	ENST00000305428.3	+	3	2530	c.2455G>A	c.(2455-2457)Gag>Aag	p.E819K		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	819						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GCGGCTGACCGAGTTGGCCGA	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		19994	0.001		0.0	False		,,,				2504	0.0																0													115.0	102.0	106.0					15																	79755565		2196	4293	6489	SO:0001583	missense	0			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2455G>A	15.37:g.79755565G>A	ENSP00000307461:p.Glu819Lys		A7MD43	Missense_Mutation	SNP	pfam_UPF0258	p.E819K	ENST00000305428.3	37	c.2455	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617297	0.66672	.	.	ENSG00000169330	ENST00000305428	T	0.52526	0.66	5.19	5.19	0.71726	.	0.178599	0.50627	D	0.000110	T	0.49830	0.1580	L	0.46157	1.445	0.58432	D	0.999999	D	0.57571	0.98	P	0.47044	0.535	T	0.46830	-0.9163	9	.	.	.	.	18.7046	0.91632	0.0:0.0:1.0:0.0	.	819	Q9UPX6	K1024_HUMAN	K	819	ENSP00000307461:E819K	.	E	+	1	0	KIAA1024	77542620	1.000000	0.71417	0.795000	0.32087	0.049000	0.14656	5.554000	0.67294	2.410000	0.81850	0.561000	0.74099	GAG	KIAA1024	-	pfam_UPF0258	ENSG00000169330		0.617	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	-	0.00	29	0	G	NM_015206		79755565	+1	tier1	-	no_errors	ENST00000305428	ensembl	human	known	74_37	missense	66.67	7	14	SNP	0.994	A
KIAA1109	84162	genome.wustl.edu	37	4	123264574	123264574	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:123264574G>T	ENST00000264501.4	+	73	12735	c.12362G>T	c.(12361-12363)gGa>gTa	p.G4121V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.G4121V			Q2LD37	K1109_HUMAN	KIAA1109	4121	Ser-rich.				regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGTTCATCGGGATTAGGCAGC	0.438																																																	0													99.0	88.0	91.0					4																	123264574		1931	4140	6071	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.12362G>T	4.37:g.123264574G>T	ENSP00000264501:p.Gly4121Val		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.G4121V	ENST00000264501.4	37	c.12362	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.4|20.4	3.975992|3.975992	0.74360|0.74360	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000306802|ENST00000264501;ENST00000388738;ENST00000438707	.|T;T;T	.|0.29917	.|2.54;2.54;1.55	5.88|5.88	5.03|5.03	0.67393|0.67393	.|.	.|0.144833	.|0.48767	.|D	.|0.000169	T|T	0.22282|0.22282	0.0537|0.0537	N|N	0.22421|0.22421	0.69|0.69	0.80722|0.80722	D|D	1|1	.|P;B	.|0.36909	.|0.573;0.1	.|B;B	.|0.33690	.|0.168;0.036	T|T	0.02144|0.02144	-1.1206|-1.1206	5|10	.|0.26408	.|T	.|0.33	.|.	17.1058|17.1058	0.86663|0.86663	0.0:0.1267:0.8733:0.0|0.0:0.1267:0.8733:0.0	.|.	.|4120;4121	.|Q2LD37-4;Q2LD37	.|.;K1109_HUMAN	Y|V	497|4121;4121;790	.|ENSP00000264501:G4121V;ENSP00000373390:G4121V;ENSP00000410874:G790V	.|ENSP00000264501:G4121V	D|G	+|+	1|2	0|0	KIAA1109|KIAA1109	123484024|123484024	1.000000|1.000000	0.71417|0.71417	0.365000|0.365000	0.25901|0.25901	0.267000|0.267000	0.26476|0.26476	5.500000|5.500000	0.66943|0.66943	1.465000|1.465000	0.48006|0.48006	0.655000|0.655000	0.94253|0.94253	GAT|GGA	KIAA1109	-	NULL	ENSG00000138688		0.438	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	-	0.00	53	0	G	NM_020797		123264574	+1	tier1	-	no_errors	ENST00000264501	ensembl	human	known	74_37	missense	39.62	32	21	SNP	0.755	T
KIAA1210	57481	genome.wustl.edu	37	X	118221265	118221265	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:118221265C>G	ENST00000402510.2	-	11	3927	c.3928G>C	c.(3928-3930)Gtc>Ctc	p.V1310L		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1310										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ACAGGGGAGACTTTTTGCTCA	0.478																																																	0													121.0	114.0	116.0					X																	118221265		1847	4085	5932	SO:0001583	missense	0			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3928G>C	X.37:g.118221265C>G	ENSP00000384670:p.Val1310Leu		B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.V1310L	ENST00000402510.2	37	c.3928	CCDS48156.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.35|11.35	1.611888|1.611888	0.28712|0.28712	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.15834	.|2.39	3.98|3.98	-2.66|-2.66	0.06077|0.06077	.|.	.|.	.|.	.|.	.|.	T|T	0.08758|0.08758	0.0217|0.0217	N|N	0.17082|0.17082	0.46|0.46	0.09310|0.09310	N|N	1|1	.|P	.|0.41784	.|0.762	.|B	.|0.39379	.|0.298	T|T	0.32428|0.32428	-0.9907|-0.9907	5|9	.|0.14656	.|T	.|0.56	.|.	9.8262|9.8262	0.40914|0.40914	0.0:0.2575:0.0:0.7425|0.0:0.2575:0.0:0.7425	.|.	.|1310	.|Q9ULL0	.|K1210_HUMAN	T|L	716|1310	.|ENSP00000384670:V1310L	.|ENSP00000384670:V1310L	S|V	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118105293|118105293	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.058000|0.058000	0.15608|0.15608	-1.555000|-1.555000	0.02170|0.02170	-0.823000|-0.823000	0.04301|0.04301	0.513000|0.513000	0.50165|0.50165	AGT|GTC	KIAA1210	-	NULL	ENSG00000250423		0.478	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	-	0.00	28	0	C	NM_020721		118221265	-1	tier1	-	no_errors	ENST00000402510	ensembl	human	known	74_37	missense	34.48	38	20	SNP	0.000	G
KIAA1755	85449	genome.wustl.edu	37	20	36870238	36870238	+	Missense_Mutation	SNP	A	A	C	rs570239072		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:36870238A>C	ENST00000279024.4	-	3	566	c.295T>G	c.(295-297)Tta>Gta	p.L99V		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	99										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				TGGCGCAATAAGAGAGGGTTG	0.567																																																	0													73.0	72.0	72.0					20																	36870238		2203	4300	6503	SO:0001583	missense	0			AB051542	CCDS33467.1	20q11.23	2007-12-07			ENSG00000149633	ENSG00000149633			29372	protein-coding gene	gene with protein product						11214970	Standard	NM_001029864		Approved	RP5-1054A22.3	uc002xhy.1	Q5JYT7	OTTHUMG00000032436	ENST00000279024.4:c.295T>G	20.37:g.36870238A>C	ENSP00000279024:p.Leu99Val		Q9C0A8	Missense_Mutation	SNP	superfamily_CRAL-TRIO_dom	p.L99V	ENST00000279024.4	37	c.295	CCDS33467.1	20	.	.	.	.	.	.	.	.	.	.	A	12.04	1.817799	0.32145	.	.	ENSG00000149633	ENST00000279024	T	0.09445	2.98	5.5	-3.45	0.04781	.	0.652243	0.12523	N	0.461519	T	0.11324	0.0276	M	0.73217	2.22	0.09310	N	1	P	0.46395	0.877	B	0.40741	0.339	T	0.15178	-1.0446	10	0.33940	T	0.23	.	8.8463	0.35172	0.3645:0.1225:0.513:0.0	.	99	Q5JYT7	K1755_HUMAN	V	99	ENSP00000279024:L99V	ENSP00000279024:L99V	L	-	1	2	KIAA1755	36303652	1.000000	0.71417	0.017000	0.16124	0.315000	0.28087	1.436000	0.34980	-0.437000	0.07243	0.459000	0.35465	TTA	KIAA1755	-	NULL	ENSG00000149633		0.567	KIAA1755-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIAA1755	HGNC	protein_coding	OTTHUMT00000079144.3	-	0.00	48	0	A	NM_001029864		36870238	-1	tier1	-	no_errors	ENST00000279024	ensembl	human	known	74_37	missense	25.40	47	16	SNP	0.081	C
KIAA1841	84542	genome.wustl.edu	37	2	61345225	61345225	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:61345225C>T	ENST00000402291.1	+	20	2243	c.2002C>T	c.(2002-2004)Cga>Tga	p.R668*	KIAA1841_ENST00000453873.1_Nonsense_Mutation_p.R668*|KIAA1841_ENST00000356719.2_Nonsense_Mutation_p.R668*|KIAA1841_ENST00000295031.5_Nonsense_Mutation_p.R668*	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	668										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GGATCTGGACCGAGTCAAGTC	0.353																																																	0													80.0	86.0	84.0					2																	61345225		2203	4300	6503	SO:0001587	stop_gained	0			BC070104	CCDS1867.1, CCDS46296.1	2p15	2010-06-22			ENSG00000162929	ENSG00000162929			29387	protein-coding gene	gene with protein product						11347906	Standard	NM_032506		Approved		uc002saw.4	Q6NSI8	OTTHUMG00000129421	ENST00000402291.1:c.2002C>T	2.37:g.61345225C>T	ENSP00000385579:p.Arg668*		Q49AF0|Q6ZND0|Q96JI6	Nonsense_Mutation	SNP	pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like	p.R668*	ENST00000402291.1	37	c.2002	CCDS46296.1	2	.	.	.	.	.	.	.	.	.	.	C	39	7.608059	0.98387	.	.	ENSG00000162929	ENST00000402291;ENST00000295031;ENST00000356719;ENST00000453873	.	.	.	5.79	3.96	0.45880	.	0.202132	0.44483	D	0.000452	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.0884	14.8471	0.70267	0.2624:0.7375:0.0:0.0	.	.	.	.	X	668	.	ENSP00000295031:R668X	R	+	1	2	KIAA1841	61198729	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	4.708000	0.61859	0.751000	0.32900	-0.169000	0.13324	CGA	KIAA1841	-	NULL	ENSG00000162929		0.353	KIAA1841-003	NOVEL	basic|appris_principal|CCDS	protein_coding	KIAA1841	HGNC	protein_coding	OTTHUMT00000325477.1	-	0.00	43	0	C	NM_032506		61345225	+1	tier1	-	no_errors	ENST00000356719	ensembl	human	known	74_37	nonsense	8.47	54	5	SNP	1.000	T
KIAA2018	205717	genome.wustl.edu	37	3	113378632	113378632	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:113378632G>A	ENST00000478658.1	-	5	1914	c.1897C>T	c.(1897-1899)Ctt>Ttt	p.L633F	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.L633F			Q68DE3	K2018_HUMAN	KIAA2018	633						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ATGTGGACAAGATGCTTTCCT	0.398																																																	0													173.0	167.0	169.0					3																	113378632		1912	4127	6039	SO:0001583	missense	0			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.1897C>T	3.37:g.113378632G>A	ENSP00000420721:p.Leu633Phe		Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.L633F	ENST00000478658.1	37	c.1897	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319100	0.60524	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.37235	1.21;1.21	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000001	T	0.52757	0.1754	L	0.36672	1.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.50800	-0.8785	10	0.49607	T	0.09	-14.8056	19.2112	0.93755	0.0:0.0:1.0:0.0	.	633	Q68DE3	K2018_HUMAN	F	633	ENSP00000320794:L633F;ENSP00000420721:L633F	ENSP00000320794:L633F	L	-	1	0	KIAA2018	114861322	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.306000	0.78905	2.520000	0.84964	0.650000	0.86243	CTT	KIAA2018	-	NULL	ENSG00000176542		0.398	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	-	0.00	56	0	G	NM_001009899		113378632	-1	tier1	-	no_errors	ENST00000316407	ensembl	human	known	74_37	missense	70.31	38	90	SNP	1.000	A
KIF22	3835	genome.wustl.edu	37	16	29810459	29810459	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:29810459G>A	ENST00000160827.4	+	5	753	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	KIF22_ENST00000561482.1_Missense_Mutation_p.R170Q|KIF22_ENST00000400751.5_Missense_Mutation_p.R170Q|KIF22_ENST00000569382.2_Missense_Mutation_p.R170Q|KIF22_ENST00000400750.2_5'UTR	NM_001256269.1|NM_007317.2	NP_001243198.1|NP_015556.1	Q14807	KIF22_HUMAN	kinesin family member 22	238	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|DNA repair (GO:0006281)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GGAGCCACCCGGCTCAACCAG	0.612																																																	0													33.0	33.0	33.0					16																	29810459		2197	4296	6493	SO:0001583	missense	0			D38751	CCDS10653.1, CCDS58444.1	16p11.2	2008-03-03	2003-01-09	2003-01-10	ENSG00000079616	ENSG00000079616		"""Kinesins"""	6391	protein-coding gene	gene with protein product		603213	"""kinesin-like 4"""	KNSL4		8599929, 11416179	Standard	NM_007317		Approved	Kid, OBP-1, OBP-2	uc002dts.4	Q14807	OTTHUMG00000097771	ENST00000160827.4:c.713G>A	16.37:g.29810459G>A	ENSP00000160827:p.Arg238Gln		B2R5M0|B7Z265|O60845|O94814|Q53F58|Q9BT46	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R238Q	ENST00000160827.4	37	c.713	CCDS10653.1	16	.	.	.	.	.	.	.	.	.	.	G	20.6	4.011443	0.75046	.	.	ENSG00000079616	ENST00000160827;ENST00000400751	T;T	0.74315	-0.83;-0.83	5.95	5.95	0.96441	Kinesin, motor domain (5);	.	.	.	.	T	0.51449	0.1675	N	0.05078	-0.115	0.80722	D	1	P;P	0.42584	0.66;0.784	B;B	0.36335	0.222;0.189	T	0.57763	-0.7755	9	0.41790	T	0.15	.	11.1844	0.48646	0.083:0.0:0.917:0.0	.	170;238	B7Z265;Q14807	.;KIF22_HUMAN	Q	238;170	ENSP00000160827:R238Q;ENSP00000383562:R170Q	ENSP00000160827:R238Q	R	+	2	0	KIF22	29717960	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.670000	0.61583	2.819000	0.97034	0.655000	0.94253	CGG	KIF22	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000079616		0.612	KIF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF22	HGNC	protein_coding	OTTHUMT00000215012.2	-	0.00	41	0	G			29810459	+1	tier1	-	no_errors	ENST00000160827	ensembl	human	known	74_37	missense	25.71	26	9	SNP	1.000	A
KIF5B	3799	genome.wustl.edu	37	10	32307483	32307483	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:32307483G>T	ENST00000302418.4	-	21	2771	c.2314C>A	c.(2314-2316)Caa>Aaa	p.Q772K	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	772					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|cytoplasm organization (GO:0007028)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane potential (GO:0042391)|stress granule disassembly (GO:0035617)|vesicle transport along microtubule (GO:0047496)	ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CGTCTATCTTGCATAACCCTA	0.323			T	"""RET, ALK"""	NSCLC																																			Dom	yes		10	10p11.22	3799	kinesin family member 5B		E	0													125.0	120.0	122.0					10																	32307483		2203	4300	6503	SO:0001583	missense	0			X65873	CCDS7171.1	10p11.22	2007-02-13			ENSG00000170759	ENSG00000170759		"""Kinesins"""	6324	protein-coding gene	gene with protein product		602809		KNS1		1607388	Standard	NM_004521		Approved	KNS	uc001iwe.4	P33176	OTTHUMG00000017913	ENST00000302418.4:c.2314C>A	10.37:g.32307483G>T	ENSP00000307078:p.Gln772Lys		A0AVB2|Q5VZ85	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q772K	ENST00000302418.4	37	c.2314	CCDS7171.1	10	.	.	.	.	.	.	.	.	.	.	G	12.53	1.965137	0.34659	.	.	ENSG00000170759	ENST00000302418	T	0.74421	-0.84	4.9	4.9	0.64082	.	0.117882	0.64402	D	0.000014	T	0.70202	0.3197	L	0.44542	1.39	0.47905	D	0.999544	B	0.18741	0.03	B	0.22753	0.041	T	0.67007	-0.5779	10	0.46703	T	0.11	.	18.4162	0.90571	0.0:0.0:1.0:0.0	.	772	P33176	KINH_HUMAN	K	772	ENSP00000307078:Q772K	ENSP00000307078:Q772K	Q	-	1	0	KIF5B	32347489	1.000000	0.71417	1.000000	0.80357	0.763000	0.43281	9.813000	0.99286	2.421000	0.82119	0.585000	0.79938	CAA	KIF5B	-	NULL	ENSG00000170759		0.323	KIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5B	HGNC	protein_coding	OTTHUMT00000047467.1	-	0.00	64	0	G	NM_004521		32307483	-1	tier1	-	no_errors	ENST00000302418	ensembl	human	known	74_37	missense	25.53	70	24	SNP	1.000	T
KLHL13	90293	genome.wustl.edu	37	X	117033237	117033237	+	Silent	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:117033237T>C	ENST00000262820.3	-	7	2511	c.1602A>G	c.(1600-1602)ggA>ggG	p.G534G	KLHL13_ENST00000371882.1_Silent_p.G483G|KLHL13_ENST00000540167.1_Silent_p.G518G|KLHL13_ENST00000371878.1_Silent_p.G483G|KLHL13_ENST00000469946.1_Silent_p.G483G|KLHL13_ENST00000541812.1_Silent_p.G518G|KLHL13_ENST00000371876.1_Silent_p.G483G|KLHL13_ENST00000545703.1_Silent_p.G492G|KLHL13_ENST00000539496.1_Silent_p.G537G	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	534					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGAGCCTTTCTCCCACTGTAC	0.458																																																	0													250.0	237.0	241.0					X																	117033237		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.1602A>G	X.37:g.117033237T>C			B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.G537	ENST00000262820.3	37	c.1611	CCDS14571.1	X																																																																																			KLHL13	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000003096		0.458	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		-	0.00	27	0	T	NM_033495		117033237	-1	tier1	-	no_errors	ENST00000539496	ensembl	human	known	74_37	silent	45.45	30	25	SNP	1.000	C
KLRG1	10219	genome.wustl.edu	37	12	9144868	9144868	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:9144868T>C	ENST00000266551.4	+	2	164	c.149T>C	c.(148-150)cTt>cCt	p.L50P	KLRG1_ENST00000356986.3_Missense_Mutation_p.L50P|RP11-259O18.4_ENST00000545706.1_RNA|KLRG1_ENST00000538029.1_Intron	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	50					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						ACTGCAGTTCTTCTGAGTGTG	0.413																																																	0													239.0	222.0	228.0					12																	9144868		2203	4300	6503	SO:0001583	missense	0			AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	6380	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member A"""	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.149T>C	12.37:g.9144868T>C	ENSP00000266551:p.Leu50Pro		B7ZAM2|O43198|O75613	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L50P	ENST00000266551.4	37	c.149		12	.	.	.	.	.	.	.	.	.	.	T	16.49	3.137564	0.56936	.	.	ENSG00000139187	ENST00000356986;ENST00000266551	T;T	0.18810	2.19;2.19	3.69	3.69	0.42338	.	0.000000	0.38492	N	0.001665	T	0.30355	0.0762	L	0.29908	0.895	0.54753	D	0.999984	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.03453	-1.1035	10	0.62326	D	0.03	-5.5069	9.0362	0.36289	0.0:0.0:0.0:1.0	.	50;50	Q96E93;Q96E93-2	KLRG1_HUMAN;.	P	50	ENSP00000349477:L50P;ENSP00000266551:L50P	ENSP00000266551:L50P	L	+	2	0	KLRG1	9036135	0.688000	0.27680	0.657000	0.29651	0.167000	0.22549	2.679000	0.46909	1.900000	0.55004	0.379000	0.24179	CTT	KLRG1	-	NULL	ENSG00000139187		0.413	KLRG1-002	KNOWN	basic	protein_coding	KLRG1	HGNC	protein_coding	OTTHUMT00000399145.1	-	0.00	49	0	T	NM_005810		9144868	+1	tier1	-	no_errors	ENST00000266551	ensembl	human	known	74_37	missense	34.29	23	12	SNP	0.724	C
L3MBTL4	91133	genome.wustl.edu	37	18	6171916	6171916	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr18:6171916T>G	ENST00000284898.6	-	13	1207	c.1007A>C	c.(1006-1008)aAg>aCg	p.K336T	L3MBTL4_ENST00000400105.2_Missense_Mutation_p.K336T|L3MBTL4_ENST00000400104.3_Missense_Mutation_p.K336T|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.K336T|L3MBTL4_ENST00000535782.1_Missense_Mutation_p.K149T	NM_173464.3	NP_775735.2	Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	336					chromatin modification (GO:0016568)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GTAGTCATACTTATGGTCCCA	0.418																																					Esophageal Squamous(41;748 902 17366 28959 43175)												0													82.0	65.0	71.0					18																	6171916		2197	4286	6483	SO:0001583	missense	0			BC039316	CCDS11839.2	18p11.31-p11.23	2013-01-10			ENSG00000154655	ENSG00000154655		"""Sterile alpha motif (SAM) domain containing"""	26677	protein-coding gene	gene with protein product						14702039	Standard	NM_173464		Approved	FLJ35936, HsT1031	uc010dkt.3	Q8NA19	OTTHUMG00000131573	ENST00000284898.6:c.1007A>C	18.37:g.6171916T>G	ENSP00000284898:p.Lys336Thr		A8MTL8|Q8IXS3	Missense_Mutation	SNP	pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM	p.K336T	ENST00000284898.6	37	c.1007	CCDS11839.2	18	.	.	.	.	.	.	.	.	.	.	T	12.83	2.054891	0.36277	.	.	ENSG00000154655	ENST00000400105;ENST00000317931;ENST00000284898;ENST00000535782;ENST00000400104	T;T;T;T;T	0.29917	1.55;1.55;1.55;1.55;1.55	5.4	3.01	0.34805	.	0.077917	0.52532	D	0.000080	T	0.19046	0.0457	L	0.32530	0.975	0.36388	D	0.862313	B;B	0.30973	0.302;0.028	B;B	0.30401	0.115;0.07	T	0.15665	-1.0429	10	0.15952	T	0.53	.	7.0507	0.25071	0.0:0.1797:0.0:0.8203	.	336;336	Q8NA19;F8W9S8	LMBL4_HUMAN;.	T	336;336;336;149;336	ENSP00000382976:K336T;ENSP00000318543:K336T;ENSP00000284898:K336T;ENSP00000444774:K149T;ENSP00000382975:K336T	ENSP00000284898:K336T	K	-	2	0	L3MBTL4	6161916	0.932000	0.31603	0.619000	0.29118	0.891000	0.51852	1.449000	0.35123	0.369000	0.24510	0.528000	0.53228	AAG	L3MBTL4	-	pfam_Mbt,smart_Mbt,pfscan_Mbt	ENSG00000154655		0.418	L3MBTL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	L3MBTL4	HGNC	protein_coding	OTTHUMT00000254448.2	-	0.00	35	0	T	NM_173464		6171916	-1	tier1	-	no_errors	ENST00000284898	ensembl	human	known	74_37	missense	27.59	42	16	SNP	0.999	G
LAS1L	81887	genome.wustl.edu	37	X	64743982	64743982	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:64743982G>T	ENST00000374811.3	-	10	1294	c.1254C>A	c.(1252-1254)taC>taA	p.Y418*	LAS1L_ENST00000374804.5_Nonsense_Mutation_p.Y359*|LAS1L_ENST00000374807.5_Nonsense_Mutation_p.Y401*|LAS1L_ENST00000312391.8_3'UTR	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	418					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ATCTGAGGATGTAGGTAGGCC	0.607																																																	0													85.0	59.0	68.0					X																	64743982		2203	4300	6503	SO:0001587	stop_gained	0			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1254C>A	X.37:g.64743982G>T	ENSP00000363944:p.Tyr418*		A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Nonsense_Mutation	SNP	pfam_Las1	p.Y418*	ENST00000374811.3	37	c.1254	CCDS14381.1	X	.	.	.	.	.	.	.	.	.	.	G	37	6.040269	0.97226	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.76	4.76	0.60689	.	0.456190	0.23731	N	0.045127	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3933	0.55370	0.0:0.0:1.0:0.0	.	.	.	.	X	401;418;359	.	ENSP00000363937:Y359X	Y	-	3	2	LAS1L	64660707	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	3.393000	0.52544	1.972000	0.57404	0.287000	0.19450	TAC	LAS1L	-	NULL	ENSG00000001497		0.607	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1		0.00	21	0	G	NM_031206		64743982	-1			no_errors	ENST00000374811	ensembl	human	known	74_37	nonsense	9.09	30	3	SNP	1.000	T
LCN15	389812	genome.wustl.edu	37	9	139656718	139656718	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr9:139656718delG	ENST00000316144.5	-	5	466	c.442delC	c.(442-444)cagfs	p.Q148fs	LCN15_ENST00000482511.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15	148					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						TTCAGAGCCTGGGGACTCACA	0.637																																																	0													21.0	21.0	21.0					9																	139656718		2190	4296	6486	SO:0001589	frameshift_variant	0				CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"""Lipocalins"""	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943	ENST00000316144.5:c.442delC	9.37:g.139656718delG	ENSP00000313833:p.Gln148fs			Frame_Shift_Del	DEL	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln,prints_Blactoglobulin	p.Q148fs	ENST00000316144.5	37	c.442	CCDS7006.1	9																																																																																			LCN15	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln,prints_Blactoglobulin	ENSG00000177984		0.637	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN15	HGNC	protein_coding	OTTHUMT00000055114.2		0.00	23	0	G	NM_203347		139656718	-1	tier1		no_errors	ENST00000316144	ensembl	human	known	74_37	frame_shift_del	13.04	20	3	DEL	0.341	-
LDB2	9079	genome.wustl.edu	37	4	16900100	16900100	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:16900100G>T	ENST00000304523.5	-	1	332	c.9C>A	c.(7-9)agC>agA	p.S3R	LDB2_ENST00000502640.1_Missense_Mutation_p.S3R|LDB2_ENST00000515064.1_Missense_Mutation_p.S3R|LDB2_ENST00000441778.2_Missense_Mutation_p.S3R	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	3					epithelial structure maintenance (GO:0010669)|hair follicle development (GO:0001942)|positive regulation of cellular component biogenesis (GO:0044089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell maintenance (GO:0035019)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	LIM domain binding (GO:0030274)|transcription cofactor activity (GO:0003712)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						CATGTGGTGTGCTGGACATCT	0.458																																																	0													183.0	159.0	167.0					4																	16900100		2203	4300	6503	SO:0001583	missense	0			AF068651	CCDS3420.1, CCDS47031.1	4p16	2008-08-01			ENSG00000169744	ENSG00000169744			6533	protein-coding gene	gene with protein product		603450				9853615, 9880598, 10861853	Standard	NM_001290		Approved	CLIM1, LDB1	uc003goz.3	O43679	OTTHUMG00000048212	ENST00000304523.5:c.9C>A	4.37:g.16900100G>T	ENSP00000306772:p.Ser3Arg		O60619|O75480	Missense_Mutation	SNP	NULL	p.S3R	ENST00000304523.5	37	c.9	CCDS3420.1	4	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120163	0.56613	.	.	ENSG00000169744	ENST00000515064;ENST00000441778;ENST00000304523;ENST00000502640	.	.	.	5.0	5.0	0.66597	.	0.054132	0.64402	D	0.000001	T	0.41604	0.1166	N	0.08118	0	0.80722	D	1	B;B;B;B	0.23854	0.032;0.054;0.092;0.032	B;B;B;B	0.24848	0.025;0.025;0.056;0.007	T	0.40459	-0.9562	9	0.59425	D	0.04	-16.7674	17.2739	0.87109	0.0:0.0:1.0:0.0	.	3;3;3;3	E9PFI4;G5E9Y7;O43679-2;O43679	.;.;.;LDB2_HUMAN	R	3	.	ENSP00000306772:S3R	S	-	3	2	LDB2	16509198	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.232000	0.95325	2.294000	0.77228	0.460000	0.39030	AGC	LDB2	-	NULL	ENSG00000169744		0.458	LDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDB2	HGNC	protein_coding	OTTHUMT00000250321.2	-	0.00	69	0	G			16900100	-1	tier1	-	no_errors	ENST00000304523	ensembl	human	known	74_37	missense	20.69	45	12	SNP	1.000	T
LILRA3	11026	genome.wustl.edu	37	19	54802638	54802638	+	Missense_Mutation	SNP	C	C	T	rs142052637	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:54802638C>T	ENST00000251390.3	-	5	894	c.803G>A	c.(802-804)cGc>cAc	p.R268H	LILRA3_ENST00000391745.1_Missense_Mutation_p.R285H|LILRA3_ENST00000391744.3_Missense_Mutation_p.R204H	NM_006865.3	NP_006856.3	Q8N6C8	LIRA3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3	268	Ig-like C2-type 3.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.R268L(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCGGCCAGGGCGCTGGAGGAA	0.647																																																	1	Substitution - Missense(1)	NS(1)											54.0	50.0	51.0					19																	54802638		2195	4177	6372	SO:0001583	missense	0			U91926		19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6604	protein-coding gene	gene with protein product		604818				9278324, 9548455	Standard	XM_006710242		Approved	LIR-4, HM43, ILT6, HM31, LIR4, CD85e		Q8N6C8		ENST00000251390.3:c.803G>A	19.37:g.54802638C>T	ENSP00000251390:p.Arg268His		J3KPM2|O15469|O15470|O75016|Q8N151|Q8N154|Q8NHJ1|Q8NHJ2|Q8NHJ3|Q8NHJ4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.R268H	ENST00000251390.3	37	c.803	CCDS12887.1	19	.	.	.	.	.	.	.	.	.	.	C	0.023	-1.398726	0.01175	.	.	ENSG00000170866	ENST00000251390;ENST00000391744;ENST00000391745	T;T;T	0.00753	5.74;5.74;5.74	2.03	-4.05	0.03998	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.471400	0.01698	N	0.027025	T	0.00875	0.0029	L	0.35723	1.085	0.09310	N	1	B;B	0.19935	0.04;0.003	B;B	0.26614	0.071;0.015	T	0.48896	-0.8994	10	0.15066	T	0.55	.	7.3486	0.26678	0.0:0.4073:0.0:0.5927	.	268;268	E7EU74;Q8N6C8	.;LIRA3_HUMAN	H	268;204;285	ENSP00000251390:R268H;ENSP00000375624:R204H;ENSP00000375625:R285H	ENSP00000251390:R268H	R	-	2	0	LILRA3	59494450	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.700000	0.05081	-1.091000	0.03065	-0.435000	0.05868	CGC	LILRA3	-	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	ENSG00000170866		0.647	LILRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA3	HGNC	protein_coding	OTTHUMT00000140236.1	-	0.00	71	0	C			54802638	-1	tier1	-	no_errors	ENST00000251390	ensembl	human	known	74_37	missense	9.63	122	13	SNP	0.000	T
LILRA4	23547	genome.wustl.edu	37	19	54849483	54849483	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:54849483C>T	ENST00000291759.4	-	4	435	c.379G>A	c.(379-381)Gca>Aca	p.A127T	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	127	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.A127T(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTTGGCAGTGCGGACAGGGTG	0.572																																																	1	Substitution - Missense(1)	central_nervous_system(1)											47.0	50.0	49.0					19																	54849483		2203	4300	6503	SO:0001583	missense	0			AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.379G>A	19.37:g.54849483C>T	ENSP00000291759:p.Ala127Thr		Q32MC4	Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	p.A127T	ENST00000291759.4	37	c.379	CCDS12890.1	19	.	.	.	.	.	.	.	.	.	.	.	10.50	1.368934	0.24771	.	.	ENSG00000239961	ENST00000291759	T	0.03272	3.99	2.65	0.334	0.15948	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.429774	0.20036	N	0.100608	T	0.12390	0.0301	M	0.83483	2.645	0.09310	N	1	D	0.76494	0.999	D	0.66497	0.944	T	0.08046	-1.0741	10	0.87932	D	0	.	3.1054	0.06340	0.262:0.5852:0.0:0.1528	.	127	P59901	LIRA4_HUMAN	T	127	ENSP00000291759:A127T	ENSP00000291759:A127T	A	-	1	0	LILRA4	59541295	0.909000	0.30893	0.030000	0.17652	0.001000	0.01503	1.355000	0.34068	0.165000	0.19558	-0.251000	0.11542	GCA	LILRA4	-	pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom	ENSG00000239961		0.572	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LILRA4	HGNC	protein_coding	OTTHUMT00000140229.2	-	0.00	38	0	C	NM_012276		54849483	-1	tier1	-	no_errors	ENST00000291759	ensembl	human	known	74_37	missense	27.36	77	29	SNP	0.035	T
LINC00969	440993	genome.wustl.edu	37	3	195410697	195410697	+	lincRNA	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:195410697G>A	ENST00000445430.1	+	0	1894									long intergenic non-protein coding RNA 969																		TGCACTGGAGGAAGCACACCC	0.582																																																	0																																												0			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410697G>A				RNA	SNP	-	NULL	ENST00000445430.1	37	NULL		3																																																																																			LINC00969	-	-	ENSG00000242086		0.582	LINC00969-038	KNOWN	basic	lincRNA	LINC00969	HGNC	lincRNA	OTTHUMT00000341951.1	-	0.00	77	0	G			195410697	+1	tier1	-	no_errors	ENST00000414625	ensembl	human	known	74_37	rna	17.56	108	23	SNP	1.000	A
LIPI	149998	genome.wustl.edu	37	21	15535844	15535844	+	Splice_Site	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr21:15535844C>T	ENST00000536861.1	-	7	901	c.902G>A	c.(901-903)gGt>gAt	p.G301D	LIPI_ENST00000344577.2_Splice_Site_p.G322D			Q6XZB0	LIPI_HUMAN	lipase, member I	301					lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GGCTTGATAACCTGAGATTTG	0.323																																																	0													81.0	87.0	85.0					21																	15535844		2203	4297	6500	SO:0001630	splice_region_variant	0			BC028732	CCDS13564.1	21q11.2	2012-07-31			ENSG00000188992	ENSG00000188992			18821	protein-coding gene	gene with protein product	"""membrane-associated phospholipase A1 beta"", ""cancer/testis antigen 17"""	609252				12719377	Standard	XM_005260924		Approved	PRED5, LPDL, CT17, mPA-PLA1beta, PLA1C	uc002yjm.3	Q6XZB0	OTTHUMG00000074258	ENST00000536861.1:c.902-1G>A	21.37:g.15535844C>T			G1JSG3|G1JSG4|G1JSG5|G1JSG6|G1JSG7|G1JSG8|G1JSG9	Missense_Mutation	SNP	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase	p.G322D	ENST00000536861.1	37	c.965		21	.	.	.	.	.	.	.	.	.	.	C	13.82	2.349928	0.41599	.	.	ENSG00000188992	ENST00000344577;ENST00000536861	D;D	0.98493	-4.96;-4.96	5.18	4.3	0.51218	.	0.098730	0.64402	D	0.000001	D	0.99190	0.9719	H	0.97158	3.95	0.31875	N	0.619194	D	0.71674	0.998	D	0.70487	0.969	D	0.98169	1.0451	10	0.87932	D	0	.	11.0668	0.47980	0.0:0.9116:0.0:0.0884	.	322	Q6XZB0-2	.	D	322;301	ENSP00000343331:G322D;ENSP00000440381:G301D	ENSP00000343331:G322D	G	-	2	0	LIPI	14457715	1.000000	0.71417	1.000000	0.80357	0.199000	0.23934	2.659000	0.46741	1.317000	0.45149	0.591000	0.81541	GGT	LIPI	-	pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH	ENSG00000188992		0.323	LIPI-201	KNOWN	basic|appris_candidate	protein_coding	LIPI	HGNC	protein_coding		-	0.00	44	0	C	NM_198996	Missense_Mutation	15535844	-1	tier1	-	no_errors	ENST00000344577	ensembl	human	known	74_37	missense	12.20	36	5	SNP	1.000	T
MAZ	4150	genome.wustl.edu	37	16	29821983	29821984	+	3'UTR	INS	-	-	T	rs71650270		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:29821983_29821984insT	ENST00000322945.6	+	0	2030_2031				MAZ_ENST00000566906.2_3'UTR|PRRT2_ENST00000567659.1_5'Flank|MAZ_ENST00000568282.1_3'UTR|PRRT2_ENST00000300797.6_5'Flank|MAZ_ENST00000219782.6_3'UTR|PRRT2_ENST00000358758.7_5'Flank|AC009133.15_ENST00000566537.1_RNA|MAZ_ENST00000563402.1_3'UTR|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000545521.1_3'UTR|MAZ_ENST00000568544.1_3'UTR|AC009133.20_ENST00000569039.1_RNA|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_3'UTR	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTCTTTTCCTTTTTTTTTTT	0.579																																					Colon(72;875 1167 15364 30899 37091)												0																																										SO:0001624	3_prime_UTR_variant	0			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.*432->T	16.37:g.29821994_29821994dupT			A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	RNA	INS	-	NULL	ENST00000322945.6	37	NULL	CCDS42143.1	16																																																																																			AC009133.14	-	-	ENSG00000238045		0.579	MAZ-001	KNOWN	basic|CCDS	protein_coding	LOC100289283	Clone_based_vega_gene	protein_coding	OTTHUMT00000435536.1		0.00	31	0	-	NM_002383		29821984	-1	tier1		no_errors	ENST00000569981	ensembl	human	known	74_37	rna	12.00	22	3	INS	0.000:0.000	T
PIEZO1	9780	genome.wustl.edu	37	16	88804630	88804630	+	Intron	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:88804630G>A	ENST00000301015.9	-	7	1095				RP5-1142A6.2_ENST00000567968.1_RNA|RP5-1142A6.2_ENST00000440406.2_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						GTGGCAAGCCGTTACCTAGCC	0.667																																																	0													17.0	25.0	22.0					16																	88804630		692	1587	2279	SO:0001627	intron_variant	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.848+4C>T	16.37:g.88804630G>A			A6NHT9|A7E2B7|Q0KKZ9	RNA	SNP	-	NULL	ENST00000301015.9	37	NULL	CCDS54058.1	16																																																																																			RP5-1142A6.2	-	-	ENSG00000224888		0.667	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	LOC100289580	Clone_based_vega_gene	protein_coding	OTTHUMT00000345699.4	-	0.00	23	0	G	NM_014745		88804630	+1	tier1	-	no_errors	ENST00000440406	ensembl	human	known	74_37	rna	12.12	29	4	SNP	0.386	A
LAMA1	284217	genome.wustl.edu	37	18	6956263	6956263	+	Intron	DEL	T	T	-	rs34931978|rs397859065	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr18:6956263delT	ENST00000389658.3	-	56	8188				RP11-781P6.1_ENST00000584722.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1						axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GAATTGAATCTTTTTTTTTTT	0.338													|||unknown(LONG_INSERTION)	1137	0.227037	0.2806	0.1671	5008	,	,		21457	0.1667		0.2714	False		,,,				2504	0.2137																0																																										SO:0001627	intron_variant	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8094+371A>-	18.37:g.6956263delT				RNA	DEL	-	NULL	ENST00000389658.3	37	NULL	CCDS32787.1	18																																																																																			RP11-781P6.1	-	-	ENSG00000265069		0.338	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC101927188	Clone_based_vega_gene	protein_coding	OTTHUMT00000257369.1		0.00	14	0	T	NM_005559		6956263	+1	tier1		no_errors	ENST00000584722	ensembl	human	known	74_37	rna	30.00	14	6	DEL	0.001	-
LOC283683	283683	genome.wustl.edu	37	15	23108650	23108650	+	RNA	DEL	T	T	-			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr15:23108650delT	ENST00000557922.1	-	0	378					NR_040057.1																						tttaattacatttttttaaat	0.254																																																	0																																												0																															15.37:g.23108650delT				RNA	DEL	-	NULL	ENST00000557922.1	37	NULL		15																																																																																			RP11-566K19.6	-	-	ENSG00000259344		0.254	RP11-566K19.6-003	KNOWN	basic	processed_transcript	LOC283683	Clone_based_vega_gene	pseudogene	OTTHUMT00000415896.1		0.00	31	0	T			23108650	-1	tier1		no_errors	ENST00000561063	ensembl	human	known	74_37	rna	44.83	16	13	DEL	0.005	-
LRIG1	26018	genome.wustl.edu	37	3	66460607	66460607	+	Missense_Mutation	SNP	G	G	A	rs267599927		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:66460607G>A	ENST00000273261.3	-	7	1405	c.881C>T	c.(880-882)tCc>tTc	p.S294F	LRIG1_ENST00000383703.3_Missense_Mutation_p.S294F	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	294					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GCGAGCGATGGAATTGTTGCT	0.567																																																	0													195.0	193.0	194.0					3																	66460607		2203	4300	6503	SO:0001583	missense	0			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.881C>T	3.37:g.66460607G>A	ENSP00000273261:p.Ser294Phe		Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.S294F	ENST00000273261.3	37	c.881	CCDS33783.1	3	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074146	0.76415	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.26223	1.75;1.75	5.14	4.27	0.50696	.	0.194769	0.45361	D	0.000378	T	0.31765	0.0807	L	0.52364	1.645	0.45216	D	0.998227	P;P;B	0.44690	0.537;0.841;0.402	P;P;P	0.48598	0.567;0.583;0.463	T	0.06661	-1.0814	10	0.72032	D	0.01	.	10.8191	0.46593	0.1525:0.0:0.8475:0.0	.	294;318;294	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	F	294;294;221	ENSP00000273261:S294F;ENSP00000373208:S294F	ENSP00000273261:S294F	S	-	2	0	LRIG1	66543297	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	2.558000	0.45879	1.303000	0.44873	0.591000	0.81541	TCC	LRIG1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000144749		0.567	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1	-	0.00	40	0	G	NM_015541		66460607	-1	tier1	-	no_errors	ENST00000273261	ensembl	human	known	74_37	missense	19.23	21	5	SNP	1.000	A
LRP1B	53353	genome.wustl.edu	37	2	141208225	141208225	+	Silent	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:141208225A>G	ENST00000389484.3	-	63	10940	c.9969T>C	c.(9967-9969)cgT>cgC	p.R3323R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3323	LDL-receptor class A 21. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAGTTTTGCAACGAAACTTAA	0.353										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													87.0	85.0	86.0					2																	141208225		2203	4300	6503	SO:0001819	synonymous_variant	0			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9969T>C	2.37:g.141208225A>G			Q8WY29|Q8WY30|Q8WY31	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.R3323	ENST00000389484.3	37	c.9969	CCDS2182.1	2																																																																																			LRP1B	-	pfam_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000168702		0.353	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2		0.00	16	0	A	NM_018557		141208225	-1			no_errors	ENST00000389484	ensembl	human	known	74_37	silent	17.39	19	4	SNP	0.936	G
LRRC1	55227	genome.wustl.edu	37	6	53660182	53660182	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:53660182T>A	ENST00000370888.1	+	1	405	c.128T>A	c.(127-129)cTg>cAg	p.L43Q	RP13-476E20.1_ENST00000429053.1_RNA|LRRC1_ENST00000370882.1_Missense_Mutation_p.L43Q	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	43						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GAGCTGCTGCTGGACGCCAAC	0.657																																																	0													37.0	35.0	36.0					6																	53660182		2203	4300	6503	SO:0001583	missense	0			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.128T>A	6.37:g.53660182T>A	ENSP00000359925:p.Leu43Gln		Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L43Q	ENST00000370888.1	37	c.128	CCDS4953.2	6	.	.	.	.	.	.	.	.	.	.	T	29.7	5.026566	0.93518	.	.	ENSG00000137269	ENST00000370888;ENST00000370882	T;T	0.75821	-0.97;-0.97	4.88	4.88	0.63580	.	0.000000	0.53938	D	0.000044	D	0.90273	0.6958	H	0.98901	4.365	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93726	0.7037	10	0.87932	D	0	.	13.3135	0.60394	0.0:0.0:0.0:1.0	.	43	Q9BTT6	LRRC1_HUMAN	Q	43	ENSP00000359925:L43Q;ENSP00000359919:L43Q	ENSP00000359919:L43Q	L	+	2	0	LRRC1	53768141	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.057000	0.76669	1.805000	0.52779	0.460000	0.39030	CTG	LRRC1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000137269		0.657	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	-	0.00	53	0	T	NM_025168		53660182	+1	tier1	-	no_errors	ENST00000370888	ensembl	human	known	74_37	missense	21.54	51	14	SNP	1.000	A
LRRC4C	57689	genome.wustl.edu	37	11	40136104	40136104	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:40136104G>C	ENST00000278198.2	-	2	3702	c.1739C>G	c.(1738-1740)cCc>cGc	p.P580R	LRRC4C_ENST00000530763.1_Missense_Mutation_p.P580R|LRRC4C_ENST00000527150.1_Missense_Mutation_p.P580R|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P580R			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	580					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)		p.P580R(1)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GCTTTCCATGGGTGTGTCTCC	0.453																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											219.0	212.0	215.0					11																	40136104		2203	4300	6503	SO:0001583	missense	0			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1739C>G	11.37:g.40136104G>C	ENSP00000278198:p.Pro580Arg		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.P580R	ENST00000278198.2	37	c.1739	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362960	0.24684	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	6.17	6.17	0.99709	.	0.055857	0.64402	D	0.000001	T	0.24967	0.0606	N	0.19112	0.55	0.43988	D	0.996681	B	0.27498	0.18	B	0.20767	0.031	T	0.03095	-1.1073	10	0.59425	D	0.04	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	580	Q9HCJ2	LRC4C_HUMAN	R	580	ENSP00000278198:P580R;ENSP00000436976:P580R;ENSP00000437132:P580R;ENSP00000434761:P580R	ENSP00000278198:P580R	P	-	2	0	LRRC4C	40092680	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.042000	0.64202	2.941000	0.99782	0.655000	0.94253	CCC	LRRC4C	-	NULL	ENSG00000148948		0.453	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	-	0.00	73	0	G	NM_020929		40136104	-1	tier1	-	no_errors	ENST00000527150	ensembl	human	known	74_37	missense	22.02	85	24	SNP	1.000	C
LRRC4C	57689	genome.wustl.edu	37	11	40136422	40136422	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:40136422T>G	ENST00000278198.2	-	2	3384	c.1421A>C	c.(1420-1422)aAc>aCc	p.N474T	LRRC4C_ENST00000530763.1_Missense_Mutation_p.N474T|LRRC4C_ENST00000527150.1_Missense_Mutation_p.N474T|LRRC4C_ENST00000528697.1_Missense_Mutation_p.N474T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	474					regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACCCACATTGTTATCTGTGGT	0.507																																																	0													126.0	113.0	118.0					11																	40136422		2203	4300	6503	SO:0001583	missense	0			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1421A>C	11.37:g.40136422T>G	ENSP00000278198:p.Asn474Thr		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.N474T	ENST00000278198.2	37	c.1421	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	T	2.714	-0.268076	0.05716	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.55760	0.5;0.5;0.5;0.5	5.84	3.48	0.39840	.	0.391289	0.29876	N	0.010965	T	0.19366	0.0465	N	0.01048	-1.04	0.26961	N	0.965819	B	0.02656	0.0	B	0.01281	0.0	T	0.21348	-1.0248	10	0.14252	T	0.57	.	8.1043	0.30877	0.0:0.0689:0.392:0.5391	.	474	Q9HCJ2	LRC4C_HUMAN	T	474	ENSP00000278198:N474T;ENSP00000436976:N474T;ENSP00000437132:N474T;ENSP00000434761:N474T	ENSP00000278198:N474T	N	-	2	0	LRRC4C	40092998	1.000000	0.71417	0.999000	0.59377	0.853000	0.48598	3.543000	0.53633	0.445000	0.26639	-0.313000	0.08912	AAC	LRRC4C	-	NULL	ENSG00000148948		0.507	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	-	0.00	72	0	T	NM_020929		40136422	-1	tier1	-	no_errors	ENST00000527150	ensembl	human	known	74_37	missense	23.40	72	22	SNP	1.000	G
LRTM1	57408	genome.wustl.edu	37	3	54958788	54958788	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:54958788T>G	ENST00000273286.5	-	2	624	c.462A>C	c.(460-462)caA>caC	p.Q154H	CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.Q78H|CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000474759.1_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	154						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		GCTGGTTTTGTTGAACCGCAA	0.488																																																	0													103.0	100.0	101.0					3																	54958788		2203	4300	6503	SO:0001583	missense	0			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.462A>C	3.37:g.54958788T>G	ENSP00000273286:p.Gln154His		Q8IUU2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.Q154H	ENST00000273286.5	37	c.462	CCDS2876.1	3	.	.	.	.	.	.	.	.	.	.	T	10.43	1.348732	0.24426	.	.	ENSG00000144771	ENST00000273286;ENST00000493075	T;D	0.90133	4.31;-2.62	5.96	-1.21	0.09524	.	0.235838	0.44902	D	0.000416	T	0.77532	0.4144	N	0.11201	0.11	0.19575	N	0.999961	B	0.24768	0.111	B	0.26094	0.066	T	0.66972	-0.5788	10	0.40728	T	0.16	.	8.1985	0.31411	0.0:0.4009:0.1123:0.4868	.	154	Q9HBL6	LRTM1_HUMAN	H	154;78	ENSP00000273286:Q154H;ENSP00000419772:Q78H	ENSP00000273286:Q154H	Q	-	3	2	LRTM1	54933828	0.945000	0.32115	0.976000	0.42696	0.658000	0.38924	-0.058000	0.11750	-0.083000	0.12618	-0.290000	0.09829	CAA	LRTM1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000144771		0.488	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1	-	0.00	19	0	T	NM_020678		54958788	-1	tier1	-	no_errors	ENST00000273286	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.124	G
LZTR1	8216	genome.wustl.edu	37	22	21348441	21348441	+	Missense_Mutation	SNP	G	G	T	rs377075596		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr22:21348441G>T	ENST00000215739.8	+	14	1857	c.1498G>T	c.(1498-1500)Gct>Tct	p.A500S	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.A481S	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	500	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCCCGGCGTGGCTGCTGGTGG	0.697																																																	0													5.0	7.0	7.0					22																	21348441		2104	4104	6208	SO:0001583	missense	0			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1498G>T	22.37:g.21348441G>T	ENSP00000215739:p.Ala500Ser		Q14776|Q20WK0	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.A500S	ENST00000215739.8	37	c.1498	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	G	5.204	0.223221	0.09863	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.56275	0.88;0.47	5.19	3.03	0.35002	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.873277	0.10296	N	0.691779	T	0.22936	0.0554	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.15473	0.001;0.009;0.001;0.013	B;B;B;B	0.16289	0.001;0.011;0.001;0.015	T	0.23833	-1.0177	10	0.09590	T	0.72	-2.6163	7.8409	0.29397	0.0858:0.3072:0.607:0.0	.	481;459;500;459	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	S	459;500;481	ENSP00000215739:A500S;ENSP00000374006:A481S	ENSP00000215739:A500S	A	+	1	0	LZTR1	19678441	0.000000	0.05858	0.002000	0.10522	0.043000	0.13939	0.457000	0.21875	0.531000	0.28639	0.462000	0.41574	GCT	LZTR1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000099949		0.697	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	HGNC	protein_coding	OTTHUMT00000320387.1	-	0.00	53	0	G	NM_006767		21348441	+1	tier1	-	no_errors	ENST00000215739	ensembl	human	known	74_37	missense	72.31	18	47	SNP	0.017	T
MACROD2	140733	genome.wustl.edu	37	20	16021881	16021881	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:16021881A>G	ENST00000310348.4	+	16	1189	c.1189A>G	c.(1189-1191)Agt>Ggt	p.S397G	MACROD2_ENST00000378058.3_Missense_Mutation_p.S162G|MACROD2_ENST00000217246.4_Missense_Mutation_p.S397G|MACROD2_ENST00000407045.3_Missense_Mutation_p.S48G|MACROD2_ENST00000402914.1_Missense_Mutation_p.S162G			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	397					brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GCCTGGGAAAAGTGAAGGCTC	0.463																																																	0													79.0	79.0	79.0					20																	16021881		2203	4299	6502	SO:0001583	missense	0			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.1189A>G	20.37:g.16021881A>G	ENSP00000309809:p.Ser397Gly		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	Missense_Mutation	SNP	pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom	p.S397G	ENST00000310348.4	37	c.1189	CCDS13120.2	20	.	.	.	.	.	.	.	.	.	.	A	9.567	1.119967	0.20877	.	.	ENSG00000172264	ENST00000217246;ENST00000310348;ENST00000402914;ENST00000378058;ENST00000407045	T;T;T;T	0.51071	2.07;2.31;0.72;0.72	5.37	2.93	0.34026	.	0.335652	0.26099	N	0.026349	T	0.34308	0.0893	L	0.44542	1.39	0.09310	N	1	P;B;B	0.41848	0.763;0.039;0.065	B;B;B	0.36845	0.234;0.05;0.109	T	0.28364	-1.0046	10	0.66056	D	0.02	-2.4228	6.6974	0.23207	0.6891:0.1587:0.0:0.1522	.	48;397;397	A1Z1Q3-6;A1Z1Q3;A1Z1Q3-2	.;MACD2_HUMAN;.	G	397;397;162;162;48	ENSP00000217246:S397G;ENSP00000309809:S397G;ENSP00000385290:S162G;ENSP00000367297:S162G	ENSP00000217246:S397G	S	+	1	0	MACROD2	15969881	0.990000	0.36364	0.396000	0.26296	0.166000	0.22503	1.496000	0.35638	0.965000	0.38133	0.533000	0.62120	AGT	MACROD2	-	NULL	ENSG00000172264		0.463	MACROD2-201	KNOWN	basic|CCDS	protein_coding	MACROD2	HGNC	protein_coding		-	0.00	27	0	A	NM_080676		16021881	+1	tier1	-	no_errors	ENST00000310348	ensembl	human	known	74_37	missense	25.53	30	12	SNP	0.053	G
MADD	8567	genome.wustl.edu	37	11	47305736	47305736	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:47305736G>T	ENST00000311027.5	+	11	2035	c.1870G>T	c.(1870-1872)Gat>Tat	p.D624Y	MADD_ENST00000395344.3_Missense_Mutation_p.D624Y|MADD_ENST00000395336.3_Missense_Mutation_p.D624Y|MADD_ENST00000349238.3_Missense_Mutation_p.D624Y|MADD_ENST00000407859.3_Missense_Mutation_p.D624Y|MADD_ENST00000342922.4_Missense_Mutation_p.D624Y|MADD_ENST00000402799.1_Missense_Mutation_p.D624Y|MADD_ENST00000406482.1_Missense_Mutation_p.D624Y|MADD_ENST00000402192.2_Missense_Mutation_p.D624Y	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAGTGGCAGTGATAGTATGGA	0.418																																																	0													163.0	145.0	151.0					11																	47305736		2201	4298	6499	SO:0001583	missense	0			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.1870G>T	11.37:g.47305736G>T	ENSP00000310933:p.Asp624Tyr			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.D624Y	ENST00000311027.5	37	c.1870	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	G	27.8	4.859742	0.91433	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.08193	3.18;3.14;3.14;3.19;3.2;3.13;3.12;3.2;3.18	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.34164	0.0888	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.983;1.0;1.0;0.995;0.999;0.991;1.0;0.998;0.999	D;P;D;D;D;D;D;D;D;D	0.91635	0.984;0.901;0.998;0.999;0.954;0.986;0.983;0.999;0.979;0.998	T	0.01165	-1.1431	10	0.87932	D	0	-12.5466	20.5948	0.99439	0.0:0.0:1.0:0.0	.	624;624;624;624;624;624;624;624;624;624	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	Y	624	ENSP00000343902:D624Y;ENSP00000385585:D624Y;ENSP00000384435:D624Y;ENSP00000304505:D624Y;ENSP00000310933:D624Y;ENSP00000384204:D624Y;ENSP00000378753:D624Y;ENSP00000378745:D624Y;ENSP00000384287:D624Y	ENSP00000310933:D624Y	D	+	1	0	MADD	47262312	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.195000	0.94971	2.873000	0.98535	0.563000	0.77884	GAT	MADD	-	NULL	ENSG00000110514		0.418	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	-	0.00	49	0	G			47305736	+1	tier1	-	no_errors	ENST00000311027	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
MAGEA12	4111	genome.wustl.edu	37	X	151900433	151900433	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:151900433T>G	ENST00000357916.4	-	2	523	c.368A>C	c.(367-369)aAg>aCg	p.K123T	CSAG1_ENST00000452779.2_5'Flank|MAGEA12_ENST00000393869.3_Missense_Mutation_p.K123T|MAGEA12_ENST00000393900.3_Missense_Mutation_p.K123T|CSAG4_ENST00000361201.4_RNA|CSAG1_ENST00000370291.2_5'Flank|CSAG1_ENST00000370287.3_5'Flank	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	123	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTCGATACTTGAGGAGCAG	0.502																																																	0													149.0	131.0	137.0					X																	151900433		2203	4300	6503	SO:0001583	missense	0				CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.368A>C	X.37:g.151900433T>G	ENSP00000350592:p.Lys123Thr		Q9NSD3	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.K123T	ENST00000357916.4	37	c.368	CCDS14710.1	X	.	.	.	.	.	.	.	.	.	.	T	11.19	1.565644	0.27915	.	.	ENSG00000213401	ENST00000357916;ENST00000393869;ENST00000393900	T;T;T	0.06294	3.32;3.32;3.32	0.8	0.8	0.18672	.	0.000000	0.85682	D	0.000000	T	0.32041	0.0816	H	0.96889	3.9	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12218	-1.0556	9	0.87932	D	0	.	.	.	.	.	123	P43365	MAGAC_HUMAN	T	123	ENSP00000350592:K123T;ENSP00000377447:K123T;ENSP00000377478:K123T	ENSP00000350592:K123T	K	-	2	0	MAGEA12	151651089	0.129000	0.22400	0.015000	0.15790	0.049000	0.14656	1.365000	0.34182	0.552000	0.29026	0.143000	0.16000	AAG	MAGEA12	-	pfam_MAGE,pfscan_MAGE	ENSG00000213401		0.502	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEA12	HGNC	protein_coding	OTTHUMT00000058764.1	-	0.00	61	0	T	NM_005367		151900433	-1	tier1	-	no_errors	ENST00000357916	ensembl	human	known	74_37	missense	29.86	101	43	SNP	0.015	G
MAP1A	4130	genome.wustl.edu	37	15	43815519	43815520	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr15:43815519_43815520delAG	ENST00000300231.5	+	4	2298_2299	c.1848_1849delAG	c.(1846-1851)acagagfs	p.E619fs	MAP1A_ENST00000399453.1_Frame_Shift_Del_p.E619fs|MAP1A_ENST00000382031.1_Frame_Shift_Del_p.E857fs			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	619					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GGGCTGAAACAGAGGAAGAGAA	0.51																																																	0																																										SO:0001589	frameshift_variant	0			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.1848_1849delAG	15.37:g.43815521_43815522delAG	ENSP00000300231:p.Glu619fs		O95643|Q12973|Q15882|Q9UJT4	Frame_Shift_Del	DEL	NULL	p.E617fs	ENST00000300231.5	37	c.1848_1849	CCDS42031.1	15																																																																																			MAP1A	-	NULL	ENSG00000166963		0.510	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5		0.00	15	0	AG	NM_002373		43815520	+1	tier1		no_errors	ENST00000399453	ensembl	human	known	74_37	frame_shift_del	35.29	22	12	DEL	0.002:0.889	-
MARCH4	57574	genome.wustl.edu	37	2	217148414	217148414	+	Silent	SNP	G	G	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:217148414G>C	ENST00000273067.4	-	2	2321	c.555C>G	c.(553-555)gtC>gtG	p.V185V		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	185						Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GTGTGCACTTGACCGAGCCAT	0.602																																																	0													62.0	55.0	58.0					2																	217148414		2203	4300	6503	SO:0001819	synonymous_variant	0			AB037820	CCDS33376.1	2q35	2013-01-09	2012-02-23		ENSG00000144583	ENSG00000144583		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	29269	protein-coding gene	gene with protein product		608208	"""membrane-associated ring finger (C3HC4) 4"""			10718198, 14722266	Standard	NM_020814		Approved	KIAA1399, MARCH-IV, RNF174	uc002vgb.3	Q9P2E8	OTTHUMG00000154824	ENST00000273067.4:c.555C>G	2.37:g.217148414G>C			Q4KMN7|Q86WR8	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.V185	ENST00000273067.4	37	c.555	CCDS33376.1	2																																																																																			MARCH4	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	ENSG00000144583		0.602	MARCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH4	HGNC	protein_coding	OTTHUMT00000337272.2	-	0.00	45	0	G	NM_020814		217148414	-1	tier1	-	no_errors	ENST00000273067	ensembl	human	known	74_37	silent	31.67	41	19	SNP	1.000	C
MARCH8	220972	genome.wustl.edu	37	10	45958757	45958757	+	Intron	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:45958757G>A	ENST00000319836.3	-	4	992				MARCH8_ENST00000395769.2_Intron|MARCH8_ENST00000476962.1_5'Flank|MARCH8_ENST00000395771.3_Intron|MARCH8_ENST00000453424.2_Silent_p.D310D	NM_145021.4	NP_659458.2	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase						immune system process (GO:0002376)|protein polyubiquitination (GO:0000209)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						CAAAGACATCGTCGTCTCCCA	0.592																																					NSCLC(102;658 1594 2173 16344 34808)												0																																										SO:0001627	intron_variant	0			AL833316	CCDS7213.1, CCDS60519.1	10q11.22	2013-01-09	2012-02-23	2005-01-27	ENSG00000165406	ENSG00000165406		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	23356	protein-coding gene	gene with protein product		613335	"""c-mir, cellular modulator of immune recognition"", ""membrane-associated ring finger (C3HC4) 8"""	MIR		12582153, 14722266	Standard	XM_005271804		Approved	c-MIR, MARCH-VIII, RNF178	uc001jch.2	Q5T0T0	OTTHUMG00000019345	ENST00000319836.3:c.242+929C>T	10.37:g.45958757G>A			B2R8E7|H0Y7C6|Q5T0S8|Q8TC72	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING	p.D310	ENST00000319836.3	37	c.930	CCDS7213.1	10	.	.	.	.	.	.	.	.	.	.	G	5.791	0.330287	0.10956	.	.	ENSG00000165406	ENST00000453424	.	.	.	5.79	-2.59	0.06209	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-14.6885	12.1648	0.54123	0.5753:0.0:0.4247:0.0	.	.	.	.	X	193	.	.	R	-	1	2	MARCH8	45278763	0.366000	0.25014	0.798000	0.32154	0.677000	0.39632	-0.246000	0.08878	-0.475000	0.06852	-0.140000	0.14226	CGA	MARCH8	-	NULL	ENSG00000165406		0.592	MARCH8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH8	HGNC	protein_coding	OTTHUMT00000051217.1	-	0.00	33	0	G	NM_145021		45958757	-1	tier1	-	no_errors	ENST00000453424	ensembl	human	putative	74_37	silent	17.50	33	7	SNP	0.902	A
MARCO	8685	genome.wustl.edu	37	2	119727832	119727832	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:119727832A>T	ENST00000327097.4	+	3	477	c.342A>T	c.(340-342)caA>caT	p.Q114H	MARCO_ENST00000541757.1_Missense_Mutation_p.Q36H	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	114					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						CGAGGCTGCAAGTCCTGCAGG	0.612																																					GBM(8;18 374 7467 11269 32796)												0													75.0	60.0	65.0					2																	119727832		2203	4300	6503	SO:0001583	missense	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.342A>T	2.37:g.119727832A>T	ENSP00000318916:p.Gln114His		B4DW79|Q9Y5S3	Missense_Mutation	SNP	pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.Q114H	ENST00000327097.4	37	c.342	CCDS2124.1	2	.	.	.	.	.	.	.	.	.	.	A	12.38	1.920126	0.33908	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757;ENST00000412481	D;D	0.90385	-2.66;-2.65	4.29	-2.99	0.05497	.	0.878296	0.09799	N	0.754350	T	0.79364	0.4433	L	0.29908	0.895	0.09310	N	1	B	0.15719	0.014	B	0.17433	0.018	T	0.62613	-0.6817	9	.	.	.	.	1.1982	0.01879	0.3161:0.3015:0.0894:0.2929	.	114	Q9UEW3	MARCO_HUMAN	H	114;114;36;36	ENSP00000318916:Q114H;ENSP00000441769:Q36H	.	Q	+	3	2	MARCO	119444302	0.053000	0.20554	0.006000	0.13384	0.001000	0.01503	0.089000	0.15002	-0.489000	0.06716	-0.488000	0.04728	CAA	MARCO	-	NULL	ENSG00000019169		0.612	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	-	0.00	26	0	A	NM_006770		119727832	+1	tier1	-	no_errors	ENST00000327097	ensembl	human	known	74_37	missense	27.27	24	9	SNP	0.007	T
MARK1	4139	genome.wustl.edu	37	1	220825478	220825478	+	Silent	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:220825478A>G	ENST00000366917.4	+	15	1988	c.1722A>G	c.(1720-1722)gaA>gaG	p.E574E	MARK1_ENST00000402574.1_Silent_p.E439E|MARK1_ENST00000366918.4_Silent_p.E552E					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		ACGGCTCTGAAGCTTACCGGC	0.453																																																	0													130.0	121.0	124.0					1																	220825478		2203	4300	6503	SO:0001819	synonymous_variant	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1722A>G	1.37:g.220825478A>G				Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.E574	ENST00000366917.4	37	c.1722	CCDS31029.2	1																																																																																			MARK1	-	NULL	ENSG00000116141		0.453	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	-	0.00	48	0	A			220825478	+1	tier1	-	no_errors	ENST00000366917	ensembl	human	known	74_37	silent	41.51	31	22	SNP	1.000	G
MARK1	4139	genome.wustl.edu	37	1	220835336	220835336	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:220835336T>G	ENST00000366917.4	+	18	2482	c.2216T>G	c.(2215-2217)tTg>tGg	p.L739W	MARK1_ENST00000402574.1_Missense_Mutation_p.L589W|MARK1_ENST00000366918.4_Missense_Mutation_p.L702W|RP11-322F10.2_ENST00000446040.1_RNA					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GAGAGATTTTTGCTTTTCTGT	0.438																																																	0													132.0	130.0	131.0					1																	220835336		2203	4300	6503	SO:0001583	missense	0			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.2216T>G	1.37:g.220835336T>G	ENSP00000355884:p.Leu739Trp			Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom	p.L739W	ENST00000366917.4	37	c.2216	CCDS31029.2	1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037743	0.75617	.	.	ENSG00000116141	ENST00000402574;ENST00000366918;ENST00000366917	T;T;T	0.61158	0.13;0.13;0.13	6.16	6.16	0.99307	Kinase-associated KA1 (2);	0.000000	0.64402	D	0.000002	T	0.78874	0.4352	M	0.83483	2.645	0.58432	D	0.999997	D;D;D;P	0.89917	0.999;1.0;1.0;0.955	D;D;D;P	0.91635	0.996;0.999;0.997;0.688	T	0.81765	-0.0783	10	0.87932	D	0	.	16.8061	0.85666	0.0:0.0:0.0:1.0	.	724;589;739;702	B4DIB3;Q9P0L2-2;Q9P0L2;Q9P0L2-3	.;.;MARK1_HUMAN;.	W	589;702;739	ENSP00000386017:L589W;ENSP00000355885:L702W;ENSP00000355884:L739W	ENSP00000355884:L739W	L	+	2	0	MARK1	218901959	1.000000	0.71417	0.975000	0.42487	0.995000	0.86356	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	TTG	MARK1	-	superfamily_KA1/Ssp2_C	ENSG00000116141		0.438	MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MARK1	HGNC	protein_coding	OTTHUMT00000090899.1	-	0.00	42	0	T			220835336	+1	tier1	-	no_errors	ENST00000366917	ensembl	human	known	74_37	missense	26.53	36	13	SNP	1.000	G
MEG3	55384	genome.wustl.edu	37	14	101300927	101300927	+	RNA	SNP	C	C	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr14:101300927C>G	ENST00000554041.1	-	0	143																											TCTTCCTCGTCTTCCTCTCTC	0.592																																																	0																																												0																															14.37:g.101300927C>G				RNA	SNP	-	NULL	ENST00000554041.1	37	NULL		14																																																																																			MEG3	-	-	ENSG00000214548		0.592	RP11-123M6.2-001	KNOWN	basic	antisense	MEG3	HGNC	antisense	OTTHUMT00000414687.1	-	0.00	29	0	C			101300927	+1	tier1	-	no_errors	ENST00000398461	ensembl	human	known	74_37	rna	28.21	28	11	SNP	0.000	G
MEG3	55384	genome.wustl.edu	37	14	101324951	101324951	+	RNA	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr14:101324951G>A	ENST00000554041.1	-	0	143																											TCTTCCACCCGCCTCTTCTTT	0.647																																																	0																																												0																															14.37:g.101324951G>A				RNA	SNP	-	NULL	ENST00000554041.1	37	NULL		14																																																																																			MEG3	-	-	ENSG00000214548		0.647	RP11-123M6.2-001	KNOWN	basic	antisense	MEG3	HGNC	antisense	OTTHUMT00000414687.1	-	0.00	36	0	G			101324951	+1	tier1	-	no_errors	ENST00000398460	ensembl	human	known	74_37	rna	23.81	32	10	SNP	0.002	A
MFSD6L	162387	genome.wustl.edu	37	17	8702166	8702166	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:8702166G>T	ENST00000329805.4	-	1	501	c.273C>A	c.(271-273)agC>agA	p.S91R		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	91						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CCATCAGCAGGCTGGCCCCCA	0.627																																																	0													51.0	57.0	55.0					17																	8702166		2203	4300	6503	SO:0001583	missense	0			AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.273C>A	17.37:g.8702166G>T	ENSP00000330051:p.Ser91Arg		Q6YL34|Q8NA76	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.S91R	ENST00000329805.4	37	c.273	CCDS11146.1	17	.	.	.	.	.	.	.	.	.	.	G	13.38	2.219691	0.39201	.	.	ENSG00000185156	ENST00000329805	T	0.80909	-1.43	4.39	1.08	0.20341	Major facilitator superfamily domain, general substrate transporter (1);	0.232564	0.34507	N	0.003913	T	0.82176	0.4980	M	0.65975	2.015	0.32443	N	0.54651	D	0.71674	0.998	D	0.63488	0.915	T	0.78932	-0.2009	10	0.25751	T	0.34	-4.098	4.1882	0.10409	0.2668:0.3284:0.4048:0.0	.	91	Q8IWD5	MFS6L_HUMAN	R	91	ENSP00000330051:S91R	ENSP00000330051:S91R	S	-	3	2	MFSD6L	8642891	1.000000	0.71417	0.994000	0.49952	0.137000	0.21094	0.981000	0.29526	1.024000	0.39682	0.655000	0.94253	AGC	MFSD6L	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000185156		0.627	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD6L	HGNC	protein_coding	OTTHUMT00000442554.1	-	0.00	62	0	G	NM_152599		8702166	-1	tier1	-	no_errors	ENST00000329805	ensembl	human	known	74_37	missense	7.94	58	5	SNP	0.978	T
MGAT1	4245	genome.wustl.edu	37	5	180218677	180218677	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:180218677G>A	ENST00000446023.2	-	3	2045	c.1295C>T	c.(1294-1296)gCg>gTg	p.A432V	MGAT1_ENST00000393340.3_Missense_Mutation_p.A432V|MGAT1_ENST00000307826.4_Missense_Mutation_p.A432V|MGAT1_ENST00000427865.2_Missense_Mutation_p.A432V|MGAT1_ENST00000333055.3_Missense_Mutation_p.A432V	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	432					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGTGGGGGCGCCAGGTGGAC	0.617																																																	0													38.0	41.0	40.0					5																	180218677		2203	4300	6503	SO:0001583	missense	0			M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.1295C>T	5.37:g.180218677G>A	ENSP00000404718:p.Ala432Val		A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	pfam_Glyco_trans_13	p.A432V	ENST00000446023.2	37	c.1295	CCDS4458.1	5	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673727	0.47781	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000452920;ENST00000427865	D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63	4.96	4.09	0.47781	.	0.000000	0.85682	D	0.000000	T	0.71039	0.3293	L	0.31294	0.92	0.80722	D	1	D	0.53312	0.959	B	0.36885	0.235	T	0.73688	-0.3904	10	0.45353	T	0.12	-20.0869	13.4714	0.61283	0.0:0.1582:0.8418:0.0	.	432	P26572	MGAT1_HUMAN	V	432;432;432;432;289;432	ENSP00000332073:A432V;ENSP00000311888:A432V;ENSP00000404718:A432V;ENSP00000377010:A432V;ENSP00000402838:A432V	ENSP00000311888:A432V	A	-	2	0	MGAT1	180151283	1.000000	0.71417	0.894000	0.35097	0.676000	0.39594	6.870000	0.75526	1.449000	0.47699	0.655000	0.94253	GCG	MGAT1	-	pfam_Glyco_trans_13	ENSG00000131446		0.617	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MGAT1	HGNC	protein_coding	OTTHUMT00000368189.1	-	0.00	18	0	G	NM_001114618		180218677	-1	tier1	-	no_errors	ENST00000307826	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.998	A
MIER1	57708	genome.wustl.edu	37	1	67424600	67424600	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:67424600C>T	ENST00000355356.3	+	5	558	c.409C>T	c.(409-411)Caa>Taa	p.Q137*	MIER1_ENST00000371018.3_Nonsense_Mutation_p.Q154*|MIER1_ENST00000371016.1_Nonsense_Mutation_p.Q154*|MIER1_ENST00000355977.6_Nonsense_Mutation_p.Q74*|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000401041.1_Nonsense_Mutation_p.Q190*|MIER1_ENST00000357692.2_Nonsense_Mutation_p.Q154*|MIER1_ENST00000371014.1_Nonsense_Mutation_p.Q190*|MIER1_ENST00000401042.3_Nonsense_Mutation_p.Q137*	NM_001077701.2|NM_001077704.2	NP_001071169.1|NP_001071172.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	137	Glu-rich.				positive regulation of chromatin silencing (GO:0031937)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						TGATCCATCACAATCTGTTGC	0.348																																																	0													120.0	114.0	116.0					1																	67424600		1858	4095	5953	SO:0001587	stop_gained	0				CCDS41347.1, CCDS41348.1, CCDS53325.1, CCDS53326.1, CCDS53327.1, CCDS53328.1, CCDS53329.1, CCDS53330.1, CCDS60163.1	1p31.2	2013-07-23	2013-07-23		ENSG00000198160	ENSG00000198160			29657	protein-coding gene	gene with protein product			"""mesoderm induction early response 1 homolog (Xenopus laevis)"""			12242014, 12482978	Standard	NM_020948		Approved	hMI-ER1, MI-ER1, KIAA1610	uc001dde.2	Q8N108	OTTHUMG00000009194	ENST00000355356.3:c.409C>T	1.37:g.67424600C>T	ENSP00000347514:p.Gln137*		C9JFD4|Q08AE0|Q32NC4|Q5T104|Q5TAD1|Q5TAD2|Q5TAD4|Q5TAD5|Q6AHY8|Q86TB4|Q8N156|Q8N161|Q8NC37|Q8NES4|Q8NES5|Q8NES6|Q8WWG2|Q9HCG2	Nonsense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom	p.Q190*	ENST00000355356.3	37	c.568	CCDS41348.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.277351	0.98182	.	.	ENSG00000198160	ENST00000371017;ENST00000371018;ENST00000355977;ENST00000357692;ENST00000401041;ENST00000371016;ENST00000371014;ENST00000401042;ENST00000355356	.	.	.	5.6	5.6	0.85130	.	0.238121	0.41294	D	0.000903	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-70.7807	20.0045	0.97432	0.0:1.0:0.0:0.0	.	.	.	.	X	158;154;74;154;190;154;190;137;137	.	ENSP00000347514:Q137X	Q	+	1	0	MIER1	67197188	0.995000	0.38212	0.980000	0.43619	0.997000	0.91878	6.235000	0.72332	2.805000	0.96524	0.655000	0.94253	CAA	MIER1	-	NULL	ENSG00000198160		0.348	MIER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIER1	HGNC	protein_coding	OTTHUMT00000025491.2	-	0.00	44	0	C	NM_020948		67424600	+1	tier1	-	no_errors	ENST00000401041	ensembl	human	known	74_37	nonsense	29.63	38	16	SNP	0.997	T
MMP24	10893	genome.wustl.edu	37	20	33864536	33864536	+	3'UTR	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:33864536C>T	ENST00000246186.6	+	0	4147				MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000455178.1_RNA|EDEM2_ENST00000540582.1_Intron|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000438751.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)						cell-cell adhesion (GO:0098609)|cell-cell adhesion mediated by cadherin (GO:0044331)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|glial cell differentiation (GO:0010001)|neuronal stem cell maintenance (GO:0097150)|positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)		Marimastat(DB00786)	GGCAGGCAGCCCAGGCTGCAG	0.612																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF131284	CCDS46593.1	20q11.2	2008-07-16	2005-08-08		ENSG00000125966	ENSG00000125966			7172	protein-coding gene	gene with protein product	"""membrane-type 5 matrix metalloproteinase"""	604871	"""matrix metalloproteinase 24 (membrane-inserted)"""			10363975	Standard	NM_006690		Approved	MT5-MMP	uc002xbu.2	Q9Y5R2	OTTHUMG00000032330	ENST00000246186.6:c.*2124C>T	20.37:g.33864536C>T			B7ZBG8|Q9H440	RNA	SNP	-	NULL	ENST00000246186.6	37	NULL	CCDS46593.1	20																																																																																			MMP24-AS1	-	-	ENSG00000126005		0.612	MMP24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP24-AS1	HGNC	protein_coding	OTTHUMT00000078851.4	-	0.00	27	0	C	NM_006690		33864536	-1	tier1	-	no_errors	ENST00000435366	ensembl	human	known	74_37	rna	25.53	35	12	SNP	0.994	T
MOCS1	4337	genome.wustl.edu	37	6	39880116	39880116	+	Silent	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:39880116G>T	ENST00000340692.5	-	8	876	c.873C>A	c.(871-873)gcC>gcA	p.A291A	MOCS1_ENST00000373186.4_Silent_p.A291A|MOCS1_ENST00000432280.2_Silent_p.A262A|MOCS1_ENST00000373175.4_Silent_p.A262A|MOCS1_ENST00000373195.3_Silent_p.A204A|MOCS1_ENST00000425303.2_Silent_p.A291A|MOCS1_ENST00000308559.7_Silent_p.A291A|MOCS1_ENST00000373188.2_Silent_p.A291A			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	291	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGATTTTAAAGGCCTGGGCAG	0.557																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)												0													80.0	80.0	80.0					6																	39880116		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.873C>A	6.37:g.39880116G>T			B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Silent	SNP	pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C	p.A291	ENST00000340692.5	37	c.873		6																																																																																			MOCS1	-	pfam_Mob_synth_C,tigrfam_MoaA	ENSG00000124615		0.557	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	MOCS1	HGNC	protein_coding	OTTHUMT00000040476.2	-	0.00	57	0	G	NM_005943		39880116	-1	tier1	-	no_errors	ENST00000340692	ensembl	human	known	74_37	silent	25.56	67	23	SNP	1.000	T
MMS22L	253714	genome.wustl.edu	37	6	97597747	97597747	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:97597747C>T	ENST00000275053.4	-	24	3897	c.3632G>A	c.(3631-3633)gGc>gAc	p.G1211D	MMS22L_ENST00000369251.2_Missense_Mutation_p.G1171D	NM_198468.2	NP_940870.2	Q6ZRQ5	MMS22_HUMAN	MMS22-like, DNA repair protein	1211					double-strand break repair via homologous recombination (GO:0000724)|replication fork processing (GO:0031297)	nuclear replication fork (GO:0043596)				breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						TATATTCCTGCCAAGGCCCCA	0.353																																																	0													71.0	68.0	69.0					6																	97597747		2203	4300	6503	SO:0001583	missense	0				CCDS5039.1	6q16.3	2010-11-11	2010-11-11	2010-11-11	ENSG00000146263	ENSG00000146263			21475	protein-coding gene	gene with protein product		615614	"""chromosome 6 open reading frame 167"""	C6orf167		21055983, 21055984	Standard	NM_198468		Approved	dJ39B17.2	uc003ppb.3	Q6ZRQ5	OTTHUMG00000015248	ENST00000275053.4:c.3632G>A	6.37:g.97597747C>T	ENSP00000275053:p.Gly1211Asp		D6R9Y8|D6RBQ4|E1P529|Q5THT2|Q68CQ6|Q68D32	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.G1211D	ENST00000275053.4	37	c.3632	CCDS5039.1	6	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005295	0.74932	.	.	ENSG00000146263	ENST00000275053;ENST00000369251	T;T	0.40756	1.02;1.02	5.81	4.95	0.65309	.	0.050614	0.85682	D	0.000000	T	0.55689	0.1936	M	0.71581	2.175	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.63637	-0.6592	10	0.87932	D	0	-12.3481	15.1683	0.72846	0.0:0.9321:0.0:0.0679	.	1171;1211	E2QRD4;Q6ZRQ5	.;MMS22_HUMAN	D	1211;1171	ENSP00000275053:G1211D;ENSP00000358254:G1171D	ENSP00000275053:G1211D	G	-	2	0	MMS22L	97704468	1.000000	0.71417	0.998000	0.56505	0.868000	0.49771	5.677000	0.68142	1.472000	0.48140	0.655000	0.94253	GGC	MMS22L	-	superfamily_ARM-type_fold	ENSG00000146263		0.353	MMS22L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMS22L	HGNC	protein_coding	OTTHUMT00000041573.3	-	0.00	28	0	C	NM_198468		97597747	-1	tier1	-	no_errors	ENST00000275053	ensembl	human	known	74_37	missense	36.36	28	16	SNP	1.000	T
MOGAT2	80168	genome.wustl.edu	37	11	75439077	75439077	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:75439077T>A	ENST00000198801.5	+	4	608	c.538T>A	c.(538-540)Ttg>Atg	p.L180M	MOGAT2_ENST00000526712.1_Missense_Mutation_p.L98M	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	180					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TGGCGGAAACTTGCTGGGCAT	0.572																																																	0													77.0	69.0	72.0					11																	75439077		2200	4293	6493	SO:0001583	missense	0			AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.538T>A	11.37:g.75439077T>A	ENSP00000198801:p.Leu180Met		A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Missense_Mutation	SNP	pfam_DAGAT	p.L180M	ENST00000198801.5	37	c.538	CCDS8240.1	11	.	.	.	.	.	.	.	.	.	.	T	17.84	3.487255	0.63962	.	.	ENSG00000166391	ENST00000198801;ENST00000526712	T;T	0.14022	2.54;2.54	5.67	0.71	0.18157	.	0.281222	0.35235	N	0.003354	T	0.24392	0.0591	L	0.53249	1.67	0.30539	N	0.766658	P;D	0.67145	0.953;0.996	P;D	0.71870	0.905;0.975	T	0.05632	-1.0873	10	0.54805	T	0.06	-7.4387	6.3039	0.21127	0.0:0.4892:0.1481:0.3627	.	180;180	Q3SYC2;Q3SYC2-3	MOGT2_HUMAN;.	M	180;98	ENSP00000198801:L180M;ENSP00000436283:L98M	ENSP00000198801:L180M	L	+	1	2	MOGAT2	75116725	0.176000	0.23096	0.043000	0.18650	0.746000	0.42486	-0.009000	0.12765	0.209000	0.20645	0.459000	0.35465	TTG	MOGAT2	-	pfam_DAGAT	ENSG00000166391		0.572	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOGAT2	HGNC	protein_coding	OTTHUMT00000383520.1		0.00	35	0	T	NM_025098		75439077	+1			no_errors	ENST00000198801	ensembl	human	known	74_37	missense	8.77	52	5	SNP	0.949	A
MSR1	4481	genome.wustl.edu	37	8	16026304	16026304	+	Missense_Mutation	SNP	G	G	A	rs569058358		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:16026304G>A	ENST00000262101.5	-	4	414	c.293C>T	c.(292-294)aCg>aTg	p.T98M	MSR1_ENST00000355282.2_Missense_Mutation_p.T98M|MSR1_ENST00000381998.4_Missense_Mutation_p.T98M|MSR1_ENST00000350896.3_Missense_Mutation_p.T98M|MSR1_ENST00000536385.1_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.T116M			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	98	Spacer. {ECO:0000305}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TCCTTTTCCCGTGAGACTTTG	0.363																																																	0													196.0	182.0	186.0					8																	16026304		2203	4300	6503	SO:0001583	missense	0			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.293C>T	8.37:g.16026304G>A	ENSP00000262101:p.Thr98Met		D3DSP3|O60505|P21759|Q45F10	Missense_Mutation	SNP	pfam_SRCR,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_SRCR,pfscan_SRCR	p.T98M	ENST00000262101.5	37	c.293	CCDS5995.1	8	.	.	.	.	.	.	.	.	.	.	G	0.109	-1.140809	0.01728	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282;ENST00000381998	T;D;T;T;D	0.90004	-0.58;-2.02;-0.58;-0.58;-2.6	4.68	-9.37	0.00626	.	3.888950	0.00465	N	0.000104	T	0.77638	0.4160	N	0.20685	0.6	0.18873	N	0.999986	B;B;B;B	0.14438	0.01;0.004;0.007;0.002	B;B;B;B	0.12837	0.002;0.005;0.008;0.002	T	0.66264	-0.5967	10	0.29301	T	0.29	.	7.7418	0.28845	0.5975:0.0:0.2214:0.181	.	116;98;98;98	B4DDJ5;P21757-2;P21757-3;P21757	.;.;.;MSRE_HUMAN	M	98;98;116;98;98	ENSP00000262100:T98M;ENSP00000262101:T98M;ENSP00000405453:T116M;ENSP00000347430:T98M;ENSP00000371428:T98M	ENSP00000262101:T98M	T	-	2	0	MSR1	16070675	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.495000	0.02294	-2.510000	0.00504	-0.917000	0.02746	ACG	MSR1	-	NULL	ENSG00000038945		0.363	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSR1	HGNC	protein_coding	OTTHUMT00000211627.2	-	0.00	61	0	G			16026304	-1	tier1	-	no_errors	ENST00000262101	ensembl	human	known	74_37	missense	33.33	40	20	SNP	0.000	A
MT-CO2	4513	genome.wustl.edu	37	M	7790	7790	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrM:7790C>T	ENST00000361739.1	+	1	205	c.205C>T	c.(205-207)Ccc>Tcc	p.P69S	MT-ND4L_ENST00000361335.1_5'Flank|MT-TR_ENST00000387439.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TC_ENST00000387405.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TW_ENST00000387382.1_RNA|MT-ND4_ENST00000361381.2_5'Flank			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	69					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						GAACTATCCTGCCCGCCATCA	0.473																																																	0																																										SO:0001583	missense	0					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.205C>T	M.37:g.7790C>T	ENSP00000354876:p.Pro69Ser		Q37526	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2	p.P69S	ENST00000361739.1	37	c.205		MT																																																																																			MT-CO2	-	pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2	ENSG00000198712		0.473	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	MT-CO2	HGNC	protein_coding		-	0.00	321	0	C	YP_003024029		7790	+1	tier1	-	no_errors	ENST00000361739	ensembl	human	known	74_37	missense	29.02	652	267	SNP	NULL	T
MTUS2	23281	genome.wustl.edu	37	13	29674973	29674973	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:29674973G>A	ENST00000431530.3	+	3	2598	c.2540G>A	c.(2539-2541)cGt>cAt	p.R847H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	837	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCTGGTCTCCGTCCTCCCGGA	0.493																																																	0													9.0	10.0	10.0					13																	29674973		1858	3986	5844	SO:0001583	missense	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2540G>A	13.37:g.29674973G>A	ENSP00000392057:p.Arg847His		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	NULL	p.R847H	ENST00000431530.3	37	c.2540	CCDS45022.1	13	.	.	.	.	.	.	.	.	.	.	G	17.46	3.393945	0.62066	.	.	ENSG00000132938	ENST00000431530	T	0.47177	0.85	5.66	5.66	0.87406	.	0.076236	0.51477	D	0.000095	T	0.67933	0.2946	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.66847	0.947	T	0.66468	-0.5916	9	.	.	.	.	18.7411	0.91773	0.0:0.0:1.0:0.0	.	837	Q5JR59	MTUS2_HUMAN	H	847	ENSP00000392057:R847H	.	R	+	2	0	MTUS2	28572973	1.000000	0.71417	0.661000	0.29709	0.040000	0.13550	8.901000	0.92560	2.670000	0.90874	0.563000	0.77884	CGT	MTUS2	-	NULL	ENSG00000132938		0.493	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	-	0.00	91	0	G	XM_166270		29674973	+1	tier1	-	no_errors	ENST00000431530	ensembl	human	known	74_37	missense	24.19	47	15	SNP	0.996	A
MUC19	283463	genome.wustl.edu	37	12	40915464	40915464	+	Intron	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:40915464A>G	ENST00000454784.4	+	50	17408							Q7Z5P9	MUC19_HUMAN	mucin 19, oligomeric						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(2)	2						GAACCACCCAAGCAGGACCAC	0.507																																																	0																																										SO:0001627	intron_variant	0			AY236870		12q12	2012-04-20	2006-03-14		ENSG00000205592	ENSG00000205592		"""Mucins"""	14362	protein-coding gene	gene with protein product		612170				12882755	Standard	NM_173600		Approved	FLJ35746	uc021qxa.1	Q7Z5P9	OTTHUMG00000060732	ENST00000454784.4:c.10891-20900A>G	12.37:g.40915464A>G			Q8NA85	RNA	SNP	-	NULL	ENST00000454784.4	37	NULL		12																																																																																			MUC19	-	-	ENSG00000205592		0.507	MUC19-001	NOVEL	non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal	protein_coding	MUC19	HGNC	protein_coding	OTTHUMT00000384257.6	-	0.00	58	0	A	XM_003403524		40915464	+1	tier1	-	no_errors	ENST00000398702	ensembl	human	known	74_37	rna	15.79	64	12	SNP	0.001	G
MYB	4602	genome.wustl.edu	37	6	135509008	135509008	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:135509008A>G	ENST00000367814.4	+	3	364	c.178A>G	c.(178-180)Aca>Gca	p.T60A	MYB_ENST00000527615.1_Missense_Mutation_p.T60A|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000525369.1_Missense_Mutation_p.T60A|MYB_ENST00000316528.8_Missense_Mutation_p.T60A|MYB_ENST00000528774.1_Missense_Mutation_p.T60A|MYB_ENST00000533624.1_Missense_Mutation_p.T60A|MYB_ENST00000534121.1_Missense_Mutation_p.T60A|MYB_ENST00000534044.1_Missense_Mutation_p.T60A|MYB_ENST00000341911.5_Missense_Mutation_p.T60A|MYB_ENST00000442647.2_Missense_Mutation_p.T60A|MYB_ENST00000420123.2_Intron	NM_001161659.1|NM_005375.2	NP_001155131.1|NP_005366.2	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	60	HTH myb-type 1. {ECO:0000255|PROSITE- ProRule:PRU00625}.				B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|chromatin remodeling (GO:0006338)|embryonic digestive tract development (GO:0048566)|G1/S transition of mitotic cell cycle (GO:0000082)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of T-helper cell differentiation (GO:0045624)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|thymus development (GO:0048538)	nuclear matrix (GO:0016363)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		ACAGAATGGAACAGATGACTG	0.323			T	NFIB	adenoid cystic carcinoma																																			Dom	yes		6	6q22-23	4602	v-myb myeloblastosis viral oncogene homolog		E	0													88.0	94.0	92.0					6																	135509008		2203	4299	6502	SO:0001583	missense	0				CCDS5174.1, CCDS47481.1, CCDS47482.1, CCDS55058.1, CCDS55059.1, CCDS55060.1, CCDS55061.1, CCDS55062.1	6q22-q23	2013-07-09	2013-07-09		ENSG00000118513	ENSG00000118513			7545	protein-coding gene	gene with protein product		189990				17599807	Standard	NM_001130172		Approved	c-myb	uc003qfh.3	P10242	OTTHUMG00000015629	ENST00000367814.4:c.178A>G	6.37:g.135509008A>G	ENSP00000356788:p.Thr60Ala		E9PI07|E9PLZ5|E9PNA4|E9PNL6|E9PRS2|P78391|P78392|P78525|P78526|Q14023|Q14024|Q708E4|Q708E7|Q9UE83	Missense_Mutation	SNP	pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.T60A	ENST00000367814.4	37	c.178	CCDS5174.1	6	.	.	.	.	.	.	.	.	.	.	A	14.29	2.490248	0.44249	.	.	ENSG00000118513	ENST00000341911;ENST00000442647;ENST00000316528;ENST00000237302;ENST00000367814;ENST00000527615;ENST00000525369;ENST00000528774;ENST00000534121;ENST00000534044;ENST00000533624;ENST00000430686	T;T;T;T;T;T;T;T;T;T;T	0.43688	2.66;2.21;2.21;2.21;1.45;1.92;2.65;2.63;1.88;2.23;0.94	5.27	5.27	0.74061	Transcription regulator HTH, Myb-type, DNA-binding (1);Myb, DNA-binding (1);SANT domain, DNA binding (1);Homeodomain-related (1);Homeodomain-like (1);	0.214995	0.49916	D	0.000124	T	0.16300	0.0392	N	0.05259	-0.085	0.48762	D	0.999704	P;B;B;B;B;B;B;B;B	0.36535	0.557;0.039;0.074;0.002;0.005;0.013;0.007;0.011;0.173	B;B;B;B;B;B;B;B;B	0.39068	0.289;0.045;0.049;0.007;0.01;0.047;0.011;0.048;0.113	T	0.21042	-1.0257	10	0.72032	D	0.01	-3.3719	15.4836	0.75548	1.0:0.0:0.0:0.0	.	60;60;60;60;60;60;60;60;60	E9PI07;E9PLZ5;P10242-2;E9PNL6;E9PRS2;E9PNA4;P10242-4;P10242;Q708E1	.;.;.;.;.;.;.;MYB_HUMAN;.	A	60;60;60;60;60;60;60;60;60;60;60;14	ENSP00000339992:T60A;ENSP00000410825:T60A;ENSP00000326328:T60A;ENSP00000356788:T60A;ENSP00000433227:T60A;ENSP00000435938:T60A;ENSP00000434723:T60A;ENSP00000432851:T60A;ENSP00000435055:T60A;ENSP00000436605:T60A;ENSP00000390460:T14A	ENSP00000237302:T60A	T	+	1	0	MYB	135550701	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.815000	0.62634	2.104000	0.64026	0.528000	0.53228	ACA	MYB	-	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	ENSG00000118513		0.323	MYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYB	HGNC	protein_coding	OTTHUMT00000042347.4	-	0.00	68	0	A			135509008	+1	tier1	-	no_errors	ENST00000341911	ensembl	human	known	74_37	missense	18.18	99	22	SNP	1.000	G
MYEOV	26579	genome.wustl.edu	37	11	69063273	69063273	+	Missense_Mutation	SNP	C	C	T	rs199794039		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:69063273C>T	ENST00000308946.3	+	3	806	c.356C>T	c.(355-357)gCg>gTg	p.A119V	MYEOV_ENST00000441339.2_Missense_Mutation_p.A119V|MYEOV_ENST00000535407.1_Missense_Mutation_p.A61V	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	119										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		CAGACAGGTGCGGGGCTCAGC	0.602													c|||	1	0.000199681	0.0	0.0	5008	,	,		17996	0.0		0.001	False		,,,				2504	0.0																0													105.0	103.0	103.0					11																	69063273		2200	4294	6494	SO:0001583	missense	0			AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.356C>T	11.37:g.69063273C>T	ENSP00000308330:p.Ala119Val		Q9UGN6|Q9UGN7	Missense_Mutation	SNP	NULL	p.A119V	ENST00000308946.3	37	c.356	CCDS8190.1	11	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	c	9.910	1.209385	0.22289	.	.	ENSG00000172927	ENST00000441339;ENST00000308946;ENST00000535407	T;T;T	0.24151	1.88;1.88;1.87	1.08	-2.16	0.07080	.	.	.	.	.	T	0.11196	0.0273	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.24693	-1.0153	9	0.87932	D	0	.	4.9243	0.13885	0.0:0.2288:0.0:0.7712	.	119	Q96EZ4	MYEOV_HUMAN	V	119;119;61	ENSP00000412482:A119V;ENSP00000308330:A119V;ENSP00000438100:A61V	ENSP00000308330:A119V	A	+	2	0	MYEOV	68819849	0.000000	0.05858	0.034000	0.17996	0.082000	0.17680	-1.838000	0.01687	-0.655000	0.05387	-1.667000	0.00748	GCG	MYEOV	-	NULL	ENSG00000172927		0.602	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MYEOV	HGNC	protein_coding	OTTHUMT00000396548.1		0.00	66	0	C			69063273	+1			no_errors	ENST00000308946	ensembl	human	known	74_37	missense	5.41	70	4	SNP	0.046	T
MYH2	4620	genome.wustl.edu	37	17	10431082	10431082	+	Missense_Mutation	SNP	C	C	T	rs148326504	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:10431082C>T	ENST00000245503.5	-	28	4238	c.3854G>A	c.(3853-3855)cGc>cAc	p.R1285H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1285H|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1285					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGTCTGCAGGCGCCCCCTCTG	0.527																																																	0								C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	87.0	88.0	87.0		3854,3854	4.8	1.0	17	dbSNP_134	87	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MYH2	NM_001100112.1,NM_017534.5	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	1285/1942,1285/1942	10431082	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3854G>A	17.37:g.10431082C>T	ENSP00000245503:p.Arg1285His		A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1285H	ENST00000245503.5	37	c.3854	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	13.11	2.139508	0.37728	0.0	1.16E-4	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83914	-1.78;-1.78	4.78	4.78	0.61160	Myosin tail (1);	0.000000	0.39909	U	0.001231	D	0.87838	0.6278	M	0.91354	3.2	0.46774	D	0.999199	B	0.13145	0.007	B	0.24006	0.05	D	0.87047	0.2144	10	0.72032	D	0.01	.	18.3692	0.90401	0.0:1.0:0.0:0.0	.	1285	Q9UKX2	MYH2_HUMAN	H	1285	ENSP00000245503:R1285H;ENSP00000380367:R1285H	ENSP00000245503:R1285H	R	-	2	0	MYH2	10371807	0.090000	0.21635	0.993000	0.49108	0.034000	0.12701	1.831000	0.39141	2.643000	0.89663	0.462000	0.41574	CGC	MYH2	-	pfam_Myosin_tail,superfamily_Prefoldin	ENSG00000125414		0.527	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	-	0.00	33	0	C	NM_017534		10431082	-1	tier1	rs148326504	no_errors	ENST00000245503	ensembl	human	known	74_37	missense	28.57	30	12	SNP	0.996	T
MYOCD	93649	genome.wustl.edu	37	17	12656029	12656029	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:12656029T>G	ENST00000343344.4	+	10	1424	c.1424T>G	c.(1423-1425)tTc>tGc	p.F475C	MYOCD_ENST00000425538.1_Missense_Mutation_p.F475C|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.F379C			Q8IZQ8	MYCD_HUMAN	myocardin	475	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCGGACACCTTCAATGATGCC	0.627																																																	0													69.0	65.0	66.0					17																	12656029		2203	4300	6503	SO:0001583	missense	0			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1424T>G	17.37:g.12656029T>G	ENSP00000341835:p.Phe475Cys		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom	p.F475C	ENST00000343344.4	37	c.1424	CCDS11163.1	17	.	.	.	.	.	.	.	.	.	.	T	17.93	3.508499	0.64410	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.54279	0.65;0.58	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.74959	0.3785	M	0.85197	2.74	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.997;1.0;0.997;0.994	T	0.77765	-0.2465	10	0.48119	T	0.1	-27.4425	14.866	0.70416	0.0:0.0:0.0:1.0	.	194;379;475;475	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	C	194;475;475;379;180	ENSP00000341835:F475C;ENSP00000400148:F180C	ENSP00000341835:F475C	F	+	2	0	MYOCD	12596754	1.000000	0.71417	0.989000	0.46669	0.704000	0.40688	4.995000	0.63908	2.158000	0.67659	0.482000	0.46254	TTC	MYOCD	-	NULL	ENSG00000141052		0.627	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	-	0.00	25	0	T	NM_153604		12656029	+1	tier1	-	no_errors	ENST00000425538	ensembl	human	known	74_37	missense	23.81	16	5	SNP	1.000	G
MYT1L	23040	genome.wustl.edu	37	2	1891271	1891272	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:1891271_1891272insT	ENST00000399161.2	-	17	3377_3378	c.2630_2631insA	c.(2629-2631)aagfs	p.K877fs	MYT1L_ENST00000428368.2_Frame_Shift_Ins_p.K875fs	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	877					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTATTAAGTCCTTTTTGCTCTC	0.446																																																	0																																										SO:0001589	frameshift_variant	0			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2631dupA	2.37:g.1891276_1891276dupT	ENSP00000382114:p.Lys877fs		A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Frame_Shift_Ins	INS	pfam_Myelin_TF,pfam_Znf_C2HC	p.D878fs	ENST00000399161.2	37	c.2631_2630		2																																																																																			MYT1L	-	NULL	ENSG00000186487		0.446	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1		0.00	75	0	-	NM_015025		1891272	-1	tier1		no_errors	ENST00000399161	ensembl	human	known	74_37	frame_shift_ins	29.67	64	27	INS	1.000:1.000	T
NEFH	4744	genome.wustl.edu	37	22	29886193	29886195	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr22:29886193_29886195delAGA	ENST00000310624.6	+	4	2597_2599	c.2564_2566delAGA	c.(2563-2568)gagaag>gag	p.K857del		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	863	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAAACAGAGGAGAAGAAGGACAG	0.537																																																	0																																										SO:0001651	inframe_deletion	0				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2564_2566delAGA	22.37:g.29886196_29886198delAGA	ENSP00000311997:p.Lys857del		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Del	DEL	pfam_IF,pfam_DUF1388	p.K857in_frame_del	ENST00000310624.6	37	c.2564_2566	CCDS13858.1	22																																																																																			NEFH	-	NULL	ENSG00000100285		0.537	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2		0.00	14	0	AGA	NM_021076		29886195	+1	tier1		no_errors	ENST00000310624	ensembl	human	known	74_37	in_frame_del	37.50	10	6	DEL	0.995:0.967:0.974	-
NETO1	81832	genome.wustl.edu	37	18	70534522	70534522	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr18:70534522A>T	ENST00000327305.6	-	1	662	c.5T>A	c.(4-6)aTc>aAc	p.I2N	NETO1_ENST00000580049.1_5'Flank|RP11-676J15.1_ENST00000578967.1_lincRNA|NETO1_ENST00000397929.1_5'Flank|NETO1_ENST00000299430.2_5'Flank|NETO1_ENST00000583169.1_Missense_Mutation_p.I2N	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	2					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GCGCCCATGGATCATGTCTGT	0.662																																																	0													35.0	33.0	34.0					18																	70534522		2202	4299	6501	SO:0001583	missense	0			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.5T>A	18.37:g.70534522A>T	ENSP00000313088:p.Ile2Asn		Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt	p.I2N	ENST00000327305.6	37	c.5	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	A	18.19	3.569650	0.65765	.	.	ENSG00000166342	ENST00000327305	T	0.24908	1.83	4.37	4.37	0.52481	.	0.285984	0.21979	N	0.066322	T	0.15565	0.0375	N	0.14661	0.345	0.80722	D	1	P	0.44090	0.826	B	0.37943	0.261	T	0.06409	-1.0828	10	0.87932	D	0	-6.2751	12.6903	0.56970	1.0:0.0:0.0:0.0	.	2	Q8TDF5	NETO1_HUMAN	N	2	ENSP00000313088:I2N	ENSP00000313088:I2N	I	-	2	0	NETO1	68685502	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.397000	0.66302	1.828000	0.53243	0.374000	0.22700	ATC	NETO1	-	NULL	ENSG00000166342		0.662	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	-	0.00	15	0	A	NM_138999		70534522	-1	tier1	-	no_errors	ENST00000327305	ensembl	human	known	74_37	missense	31.25	11	5	SNP	1.000	T
NKPD1	284353	genome.wustl.edu	37	19	45655768	45655769	+	In_Frame_Ins	INS	-	-	CTG	rs200529734	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:45655768_45655769insCTG	ENST00000438936.2	-	3	1471_1472	c.1260_1261insCAG	c.(1258-1263)cagggg>cagCAGggg	p.420_421insQ	AC005757.7_ENST00000589594.1_lincRNA|NKPD1_ENST00000589776.1_In_Frame_Ins_p.420_421insQ|NKPD1_ENST00000429338.1_In_Frame_Ins_p.420_421insQ|NKPD1_ENST00000317951.4_In_Frame_Ins_p.642_643insQ			Q17RQ9	NKPD1_HUMAN	NTPase, KAP family P-loop domain containing 1	420	Poly-Gln.					integral component of membrane (GO:0016021)				endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CCAAAGTCCCCCTGCTGCTGCT	0.698														41	0.0081869	0.0265	0.0072	5008	,	,		16190	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001652	inframe_insertion	0			AK090919		19q13.32	2012-07-02		2012-07-02	ENSG00000179846	ENSG00000179846			24739	protein-coding gene	gene with protein product						14702039	Standard	NM_198478		Approved	FLJ33600	uc010xxi.2	Q17RQ9	OTTHUMG00000160521	ENST00000438936.2:c.1258_1260dupCAG	19.37:g.45655775_45655777dupCTG	ENSP00000401739:p.Gln420_Gln420dup		B7ZLG6|D6RH15|Q8N2A2	In_Frame_Ins	INS	pfam_KAP_NTPase	p.642in_frame_insQ	ENST00000438936.2	37	c.1927_1926		19																																																																																			NKPD1	-	NULL	ENSG00000179846		0.698	NKPD1-001	KNOWN	basic	protein_coding	NKPD1	HGNC	protein_coding	OTTHUMT00000360950.2		0.00	26	0	-	NM_198478		45655769	-1	tier1		no_errors	ENST00000317951	ensembl	human	known	74_37	in_frame_ins	36.59	26	15	INS	0.836:0.910	CTG
NLRC3	197358	genome.wustl.edu	37	16	3614763	3614763	+	RNA	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:3614763C>T	ENST00000301749.7	-	0	584				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000448023.2_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTGAGTCTGCGGGACAGAGG	0.662																																																	0													7.0	9.0	9.0					16																	3614763		1991	4085	6076			0			BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614763C>T			Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	-	NULL	ENST00000301749.7	37	NULL		16																																																																																			NLRC3	-	-	ENSG00000167984		0.662	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	NLRC3	HGNC	polymorphic_pseudogene		-	0.00	82	0	C	NM_178844		3614763	-1	tier1	-	no_errors	ENST00000603055	ensembl	human	known	74_37	rna	26.25	59	21	SNP	0.000	T
NLRP13	126204	genome.wustl.edu	37	19	56416458	56416458	+	Missense_Mutation	SNP	G	G	A	rs367708599		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:56416458G>A	ENST00000342929.3	-	8	2467	c.2468C>T	c.(2467-2469)tCg>tTg	p.S823L	NLRP13_ENST00000588751.1_Missense_Mutation_p.S823L	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	823							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCTGGCTGCCGACAAGTTGCA	0.527																																																	0								G	LEU/SER	0,4406		0,0,2203	118.0	91.0	100.0		2468	-1.4	0.0	19		100	1,8599	1.2+/-3.3	0,1,4299	no	missense	NLRP13	NM_176810.2	145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	823/1044	56416458	1,13005	2203	4300	6503	SO:0001583	missense	0			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2468C>T	19.37:g.56416458G>A	ENSP00000343891:p.Ser823Leu		Q7RTR5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.S823L	ENST00000342929.3	37	c.2468	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	G	9.313	1.056178	0.19907	0.0	1.16E-4	ENSG00000173572	ENST00000342929	T	0.56103	0.48	2.19	-1.36	0.09085	.	.	.	.	.	T	0.58104	0.2099	M	0.82323	2.585	0.09310	N	1	D	0.61697	0.99	P	0.50270	0.636	T	0.52749	-0.8534	9	0.72032	D	0.01	.	5.1665	0.15088	0.4787:0.0:0.5213:0.0	.	823	Q86W25	NAL13_HUMAN	L	823	ENSP00000343891:S823L	ENSP00000343891:S823L	S	-	2	0	NLRP13	61108270	0.001000	0.12720	0.015000	0.15790	0.005000	0.04900	0.692000	0.25482	-0.204000	0.10235	-0.229000	0.12294	TCG	NLRP13	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000173572		0.527	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	-	0.00	61	0	G	NM_176810		56416458	-1	tier1	-	no_errors	ENST00000342929	ensembl	human	known	74_37	missense	34.88	56	30	SNP	0.015	A
NNT	23530	genome.wustl.edu	37	5	43659311	43659311	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:43659311G>A	ENST00000264663.5	+	17	2714	c.2493G>A	c.(2491-2493)atG>atA	p.M831I	NNT_ENST00000512996.2_Missense_Mutation_p.M700I|NNT_ENST00000344920.4_Missense_Mutation_p.M831I	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	831					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					GTGCTGACATGCCCGTCGTTA	0.463																																																	0													169.0	161.0	163.0					5																	43659311		2203	4300	6503	SO:0001583	missense	0			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.2493G>A	5.37:g.43659311G>A	ENSP00000264663:p.Met831Ile		Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a	p.M831I	ENST00000264663.5	37	c.2493	CCDS3949.1	5	.	.	.	.	.	.	.	.	.	.	G	34	5.331012	0.95733	.	.	ENSG00000112992	ENST00000542759;ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.94000	-3.33;-3.33;-3.33	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.98289	0.9433	H	0.98111	4.15	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.98891	1.0773	10	0.87932	D	0	-24.0459	20.3325	0.98724	0.0:0.0:1.0:0.0	.	831	Q13423	NNTM_HUMAN	I	346;831;831;700	ENSP00000264663:M831I;ENSP00000343873:M831I;ENSP00000426343:M700I	ENSP00000264663:M831I	M	+	3	0	NNT	43695068	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	9.476000	0.97823	2.805000	0.96524	0.655000	0.94253	ATG	NNT	-	pfam_NADH_DH_b	ENSG00000112992		0.463	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNT	HGNC	protein_coding	OTTHUMT00000214026.1	-	0.00	77	0	G	NM_182977		43659311	+1	tier1	-	no_errors	ENST00000264663	ensembl	human	known	74_37	missense	38.04	57	35	SNP	1.000	A
NOC3L	64318	genome.wustl.edu	37	10	96116319	96116319	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:96116319G>C	ENST00000371361.3	-	5	638	c.538C>G	c.(538-540)Caa>Gaa	p.Q180E	NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Missense_Mutation_p.Q180E	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	180					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TCTTCTTCTTGATCCTCTTCA	0.279																																																	0													199.0	205.0	203.0					10																	96116319		2202	4300	6502	SO:0001583	missense	0			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.538C>G	10.37:g.96116319G>C	ENSP00000360412:p.Gln180Glu		Q9H5M6|Q9H9D8	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	p.Q180E	ENST00000371361.3	37	c.538	CCDS7433.1	10	.	.	.	.	.	.	.	.	.	.	G	0.017	-1.508947	0.00984	.	.	ENSG00000173145	ENST00000371361;ENST00000371350	T;T	0.10192	2.9;2.9	2.26	2.26	0.28386	.	0.896444	0.09501	N	0.793658	T	0.05135	0.0137	N	0.14661	0.345	0.22156	N	0.999323	B	0.02656	0.0	B	0.01281	0.0	T	0.39921	-0.9590	10	0.02654	T	1	1.8245	6.9614	0.24599	0.0:0.2886:0.7114:0.0	.	180	Q8WTT2	NOC3L_HUMAN	E	180	ENSP00000360412:Q180E;ENSP00000360401:Q180E	ENSP00000360401:Q180E	Q	-	1	0	NOC3L	96106309	0.094000	0.21725	0.998000	0.56505	0.906000	0.53458	1.876000	0.39588	1.544000	0.49359	0.650000	0.86243	CAA	NOC3L	-	superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	ENSG00000173145		0.279	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOC3L	HGNC	protein_coding	OTTHUMT00000049466.1	-	0.00	22	0	G	NM_022451		96116319	-1	tier1	-	no_errors	ENST00000371350	ensembl	human	known	74_37	missense	34.78	15	8	SNP	0.999	C
NPHS2	7827	genome.wustl.edu	37	1	179526362	179526362	+	Missense_Mutation	SNP	C	C	T	rs74315347		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:179526362C>T	ENST00000367615.4	-	5	606	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	180			V -> M (in NPHS2). {ECO:0000269|PubMed:10742096}.		actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TCTTTGGTCACGATCTAGGCA	0.413																																																	0			GRCh37	CM000584	NPHS2	M	rs74315347	C	MET/VAL	0,4406		0,0,2203	99.0	91.0	93.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	538	5.5	1.0	1	dbSNP_131	93	1,8599	1.2+/-3.3	0,1,4299	no	missense	NPHS2	NM_014625.2	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	180/384	179526362	1,13005	2203	4300	6503	SO:0001583	missense	0			AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.538G>A	1.37:g.179526362C>T	ENSP00000356587:p.Val180Met		B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	pfam_Band_7,smart_Band_7,prints_Stomatin	p.V180M	ENST00000367615.4	37	c.538	CCDS1331.1	1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.463181	0.84425	0.0	1.16E-4	ENSG00000116218	ENST00000367615	D	0.99598	-6.26	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.98833	0.9606	L	0.33339	1.005	0.80722	A	1	P	0.46512	0.879	P	0.48425	0.577	D	0.99879	1.1110	9	0.66056	D	0.02	-21.3588	18.2787	0.90092	0.0:1.0:0.0:0.0	.	180	Q9NP85	PODO_HUMAN	M	180	ENSP00000356587:V180M	ENSP00000356587:V180M	V	-	1	0	NPHS2	177792985	0.994000	0.37717	1.000000	0.80357	0.962000	0.63368	1.789000	0.38724	2.749000	0.94314	0.655000	0.94253	GTG	NPHS2	-	pfam_Band_7,smart_Band_7,prints_Stomatin	ENSG00000116218		0.413	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPHS2	HGNC	protein_coding	OTTHUMT00000085283.1	-	0.00	38	0	C			179526362	-1	tier1	rs74315347	no_errors	ENST00000367615	ensembl	human	known	74_37	missense	36.73	31	18	SNP	1.000	T
NR2C2	7182	genome.wustl.edu	37	3	15064742	15064742	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:15064742C>T	ENST00000425241.1	+	6	954	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	NR2C2_ENST00000406272.2_Missense_Mutation_p.R198W|NR2C2_ENST00000323373.6_Missense_Mutation_p.R217W|NR2C2_ENST00000393102.3_Missense_Mutation_p.R198W			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	198					cell differentiation (GO:0030154)|gene expression (GO:0010467)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CGATGTGCAACGGGAGAAACC	0.423																																																	0													126.0	120.0	122.0					3																	15064742		2203	4300	6503	SO:0001583	missense	0			L27586	CCDS2621.1, CCDS74905.1	3p25	2013-01-16			ENSG00000177463	ENSG00000177463		"""Nuclear hormone receptors"""	7972	protein-coding gene	gene with protein product		601426		TR4		8661150, 8016112	Standard	XM_005265428		Approved	TAK1, TR2R1, hTAK1	uc003bzi.3	P49116	OTTHUMG00000129839	ENST00000425241.1:c.592C>T	3.37:g.15064742C>T	ENSP00000388387:p.Arg198Trp		A8K3H5|B6ZGT8|P55092	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_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.R217W	ENST00000425241.1	37	c.649		3	.	.	.	.	.	.	.	.	.	.	C	15.89	2.965866	0.53507	.	.	ENSG00000177463	ENST00000425241;ENST00000323373;ENST00000393102;ENST00000406272	D;D;D;D	0.94897	-3.55;-3.55;-3.55;-3.55	5.87	5.87	0.94306	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	D	0.96327	0.8802	M	0.71036	2.16	0.58432	D	0.999999	D;D	0.76494	0.997;0.999	P;P	0.60949	0.881;0.849	D	0.96191	0.9138	10	0.87932	D	0	.	15.3179	0.74095	0.1398:0.8602:0.0:0.0	.	198;217	P49116;F2YGU2	NR2C2_HUMAN;.	W	198;217;198;198	ENSP00000388387:R198W;ENSP00000320447:R217W;ENSP00000376814:R198W;ENSP00000384463:R198W	ENSP00000320447:R217W	R	+	1	2	NR2C2	15039746	0.871000	0.30034	0.993000	0.49108	0.007000	0.05969	1.665000	0.37449	2.941000	0.99782	0.655000	0.94253	CGG	NR2C2	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000177463		0.423	NR2C2-002	NOVEL	basic|appris_principal	protein_coding	NR2C2	HGNC	protein_coding	OTTHUMT00000340729.1	-	0.00	49	0	C	NM_003298		15064742	+1	tier1	-	no_errors	ENST00000323373	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.995	T
NRG1	3084	genome.wustl.edu	37	8	32453467	32453467	+	Silent	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:32453467G>T	ENST00000405005.3	+	2	222	c.222G>T	c.(220-222)ggG>ggT	p.G74G	NRG1_ENST00000338921.4_Silent_p.G74G|NRG1_ENST00000341377.5_Silent_p.G74G|NRG1_ENST00000287845.5_Silent_p.G74G|NRG1_ENST00000521670.1_Silent_p.G74G|NRG1_ENST00000520407.1_Silent_p.G289G|NRG1_ENST00000519301.1_Silent_p.G53G|NRG1_ENST00000287842.3_Silent_p.G74G|NRG1_ENST00000356819.4_Silent_p.G74G|NRG1_ENST00000523079.1_Silent_p.G74G			Q02297	NRG1_HUMAN	neuregulin 1	74	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TCAAGAATGGGAATGAATTGA	0.393																																																	0													113.0	124.0	120.0					8																	32453467		2203	4300	6503	SO:0001819	synonymous_variant	0			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.222G>T	8.37:g.32453467G>T			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin	p.G74	ENST00000405005.3	37	c.222	CCDS6085.1	8																																																																																			NRG1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000157168		0.393	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1		0.00	23	0	G			32453467	+1			no_errors	ENST00000338921	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.996	T
NRK	203447	genome.wustl.edu	37	X	105156740	105156740	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:105156740A>C	ENST00000243300.9	+	14	2645	c.2342A>C	c.(2341-2343)aAa>aCa	p.K781T	NRK_ENST00000428173.2_Missense_Mutation_p.K782T	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	781					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						AATCCTAAAAAAATTGAGGTA	0.343										HNSCC(51;0.14)																																							0													26.0	23.0	24.0					X																	105156740		1797	4034	5831	SO:0001583	missense	0			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.2342A>C	X.37:g.105156740A>C	ENSP00000434830:p.Lys781Thr		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom	p.K782T	ENST00000243300.9	37	c.2345		X	.	.	.	.	.	.	.	.	.	.	A	4.420	0.077573	0.08485	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.77358	-1.08;-1.09	3.59	-4.9	0.03094	.	1.538920	0.04165	N	0.323743	T	0.53899	0.1825	N	0.08118	0	0.09310	N	1	B;B	0.16166	0.016;0.003	B;B	0.16289	0.015;0.004	T	0.37314	-0.9711	10	0.52906	T	0.07	.	2.4963	0.04622	0.5457:0.137:0.1776:0.1396	.	449;781	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	T	781;782	ENSP00000434830:K781T;ENSP00000438378:K782T	ENSP00000434830:K781T	K	+	2	0	NRK	105043396	0.016000	0.18221	0.001000	0.08648	0.000000	0.00434	-0.663000	0.05299	-1.554000	0.01700	-2.047000	0.00414	AAA	NRK	-	NULL	ENSG00000123572		0.343	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	-	0.00	31	0	A	NM_198465		105156740	+1	tier1	-	no_errors	ENST00000428173	ensembl	human	known	74_37	missense	44.00	28	22	SNP	0.001	C
NRXN1	9378	genome.wustl.edu	37	2	50850700	50850700	+	Silent	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:50850700A>G	ENST00000406316.2	-	6	2362	c.886T>C	c.(886-888)Ttg>Ctg	p.L296L	NRXN1_ENST00000402717.3_Silent_p.L296L|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000404971.1_Silent_p.L329L|NRXN1_ENST00000406859.3_Silent_p.L296L|NRXN1_ENST00000401669.2_Silent_p.L296L|NRXN1_ENST00000405472.3_Silent_p.L296L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	296	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTTTGAGACAAGTCGTAGCAG	0.383																																																	0													130.0	120.0	123.0					2																	50850700		1869	4095	5964	SO:0001819	synonymous_variant	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.886T>C	2.37:g.50850700A>G			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.L296	ENST00000406316.2	37	c.886	CCDS54360.1	2																																																																																			NRXN1	-	superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G	ENSG00000179915		0.383	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	-	0.00	36	0	A			50850700	-1	tier1	-	no_errors	ENST00000402717	ensembl	human	known	74_37	silent	32.26	42	20	SNP	1.000	G
NYAP2	57624	genome.wustl.edu	37	2	226446657	226446657	+	Splice_Site	SNP	C	C	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:226446657C>A	ENST00000272907.6	+	4	937	c.524C>A	c.(523-525)gCg>gAg	p.A175E	NYAP2_ENST00000409269.2_Intron	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	175					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												CTTCTTTTAGCGTCAGCTAAA	0.403																																																	0													81.0	83.0	82.0					2																	226446657		1850	4077	5927	SO:0001630	splice_region_variant	0			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.524-1C>A	2.37:g.226446657C>A			A2RRN4|Q96NL2	Missense_Mutation	SNP	NULL	p.A175E	ENST00000272907.6	37	c.524	CCDS46529.1	2	.	.	.	.	.	.	.	.	.	.	T	3.320	-0.139026	0.06669	.	.	ENSG00000144460	ENST00000272907	T	0.32753	1.44	5.8	3.27	0.37495	.	0.559885	0.16456	N	0.213626	T	0.19366	0.0465	L	0.27053	0.805	0.54753	D	0.999987	B	0.21688	0.059	B	0.17433	0.018	T	0.04961	-1.0915	9	.	.	.	.	8.6541	0.34053	0.0:0.1287:0.1168:0.7545	.	175	Q9P242	K1486_HUMAN	E	175	ENSP00000272907:A175E	.	A	+	2	0	KIAA1486	226154901	0.980000	0.34600	0.196000	0.23383	0.060000	0.15804	0.696000	0.25541	0.462000	0.27095	-0.275000	0.10095	GCG	NYAP2	-	NULL	ENSG00000144460		0.403	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYAP2	HGNC	protein_coding	OTTHUMT00000331258.1		0.00	32	0	C	NM_020864	Missense_Mutation	226446657	+1			no_errors	ENST00000272907	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.494	A
OGFRL1	79627	genome.wustl.edu	37	6	72011416	72011416	+	Silent	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:72011416T>C	ENST00000370435.4	+	7	1154	c.1020T>C	c.(1018-1020)acT>acC	p.T340T	RP11-154D6.1_ENST00000585882.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000450998.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA|RP11-154D6.1_ENST00000587397.1_RNA|RP11-154D6.1_ENST00000587036.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	340						membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						ACAGTCAAACTTCTATGCACA	0.453																																																	0													45.0	50.0	48.0					6																	72011416		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS34482.1	6q13	2008-02-05			ENSG00000119900	ENSG00000119900			21378	protein-coding gene	gene with protein product							Standard	NM_024576		Approved	dJ331H24.1	uc003pfx.1	Q5TC84	OTTHUMG00000015000	ENST00000370435.4:c.1020T>C	6.37:g.72011416T>C			Q2TAC1|Q8NEQ4|Q9H7B5	Silent	SNP	pfam_OGF_rcpt	p.T340	ENST00000370435.4	37	c.1020	CCDS34482.1	6																																																																																			OGFRL1	-	NULL	ENSG00000119900		0.453	OGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFRL1	HGNC	protein_coding	OTTHUMT00000041153.2	-	0.00	10	0	T	NM_024576		72011416	+1	tier1	-	no_errors	ENST00000370435	ensembl	human	known	74_37	silent	35.29	11	6	SNP	0.027	C
OPLAH	26873	genome.wustl.edu	37	8	145110038	145110038	+	Missense_Mutation	SNP	C	C	T	rs539275646		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:145110038C>T	ENST00000426825.1	-	17	2384	c.2303G>A	c.(2302-2304)cGt>cAt	p.R768H	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	768					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGTCCAGACGCTCCTTGAT	0.647																																																	0													36.0	42.0	40.0					8																	145110038		2063	4202	6265	SO:0001583	missense	0			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.2303G>A	8.37:g.145110038C>T	ENSP00000475943:p.Arg768His		A5PKY8|Q75W65|Q9Y4Q0	Missense_Mutation	SNP	pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N	p.R768H	ENST00000426825.1	37	c.2303		8	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711318	0.48517	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.41	4.52	0.55395	.	0.051755	0.85682	D	0.000000	T	0.79411	0.4441	.	.	.	0.49915	D	0.999839	D	0.89917	1.0	D	0.97110	1.0	D	0.85156	0.0989	7	0.87932	D	0	.	13.9899	0.64359	0.0:0.847:0.153:0.0	.	768	O14841	OPLA_HUMAN	H	768	.	ENSP00000412071:R768H	R	-	2	0	OPLAH	145182026	1.000000	0.71417	0.992000	0.48379	0.910000	0.53928	6.783000	0.75078	1.269000	0.44280	0.561000	0.74099	CGT	OPLAH	-	pfam_Hydantoinase_B	ENSG00000178814		0.647	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	HGNC	protein_coding		-	0.00	35	0	C	NM_017570		145110038	-1	tier1	-	no_errors	ENST00000426825	ensembl	human	known	74_37	missense	5.26	72	4	SNP	0.999	T
OR10G4	390264	genome.wustl.edu	37	11	123886648	123886648	+	Silent	SNP	T	T	C	rs397832341	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:123886648T>C	ENST00000320891.4	+	1	367	c.367T>C	c.(367-369)Ttg>Ctg	p.L123L		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	123						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		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;0.0401)		TGATCGCTACTTGGCCATCAG	0.567													t|||	2	0.000399361	0.0008	0.0	5008	,	,		23929	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001819	synonymous_variant	0			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.367T>C	11.37:g.123886648T>C			Q6IEW0	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L123	ENST00000320891.4	37	c.367	CCDS31702.1	11																																																																																			OR10G4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000254737		0.567	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G4	HGNC	protein_coding	OTTHUMT00000387268.1	-	0.00	84	0	T	NM_001004462		123886648	+1	tier1	-	no_errors	ENST00000320891	ensembl	human	known	74_37	silent	33.33	50	25	SNP	0.994	C
OR2M3	127062	genome.wustl.edu	37	1	248366816	248366816	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:248366816G>T	ENST00000456743.1	+	1	485	c.447G>T	c.(445-447)tgG>tgT	p.W149C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTTTTCCTGGATCCTGGGCT	0.463																																																	0													201.0	197.0	198.0					1																	248366816		2203	4300	6503	SO:0001583	missense	0				CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.447G>T	1.37:g.248366816G>T	ENSP00000389625:p.Trp149Cys		B9EH06|Q6IEY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.W149C	ENST00000456743.1	37	c.447	CCDS31107.1	1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.612883	0.28712	.	.	ENSG00000228198	ENST00000456743	T	0.59638	0.25	2.55	1.46	0.22682	GPCR, rhodopsin-like superfamily (1);	0.000000	0.30538	U	0.009420	T	0.72898	0.3518	M	0.81497	2.545	0.09310	N	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.61608	-0.7028	10	0.87932	D	0	.	10.4841	0.44711	0.0:0.0:0.8062:0.1938	.	149	Q8NG83	OR2M3_HUMAN	C	149	ENSP00000389625:W149C	ENSP00000389625:W149C	W	+	3	0	OR2M3	246433439	0.000000	0.05858	0.024000	0.17045	0.013000	0.08279	-1.256000	0.02869	1.425000	0.47237	0.405000	0.27470	TGG	OR2M3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000228198		0.463	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M3	HGNC	protein_coding	OTTHUMT00000097355.1	-	0.00	91	0	G	NM_001004689		248366816	+1	tier1	-	no_errors	ENST00000456743	ensembl	human	known	74_37	missense	28.21	84	33	SNP	0.092	T
OR2T10	127069	genome.wustl.edu	37	1	248756469	248756469	+	Silent	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:248756469A>G	ENST00000330500.2	-	1	631	c.601T>C	c.(601-603)Ttg>Ctg	p.L201L	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	201						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACAGCACAAGTACATGAAA	0.448																																																	0													80.0	84.0	83.0					1																	248756469		2050	4240	6290	SO:0001819	synonymous_variant	0				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.601T>C	1.37:g.248756469A>G			B2RNK7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L201	ENST00000330500.2	37	c.601	CCDS31121.1	1																																																																																			OR2T10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184022		0.448	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T10	HGNC	protein_coding	OTTHUMT00000097139.1	-	0.00	68	0	A	NM_001004693		248756469	-1	tier1	-	no_errors	ENST00000330500	ensembl	human	known	74_37	silent	36.90	53	31	SNP	0.000	G
OR2W3	343171	genome.wustl.edu	37	1	248059417	248059417	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:248059417T>G	ENST00000360358.3	+	1	529	c.529T>G	c.(529-531)Ttc>Gtc	p.F177V	OR2W3_ENST00000537741.1_Missense_Mutation_p.F177V	NM_001001957.2	NP_001001957.2	Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGTGGACCACTTCCTGCGTGA	0.647																																																	0													118.0	95.0	103.0					1																	248059417		2203	4300	6503	SO:0001583	missense	0			N75737	CCDS31099.1	1q44	2012-08-09		2004-03-10	ENSG00000238243	ENSG00000238243		"""GPCR / Class A : Olfactory receptors"""	15021	protein-coding gene	gene with protein product				OR2W8P, OR2W3P		14983052	Standard	NM_001001957		Approved	OST718	uc010pzb.2	Q7Z3T1	OTTHUMG00000040204	ENST00000360358.3:c.529T>G	1.37:g.248059417T>G	ENSP00000353516:p.Phe177Val		Q6IF06|Q8NG86	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F177V	ENST00000360358.3	37	c.529	CCDS31099.1	1	.	.	.	.	.	.	.	.	.	.	T	19.16	3.773654	0.69992	.	.	ENSG00000238243	ENST00000537741;ENST00000360358	T;T	0.00350	7.98;7.98	5.28	5.28	0.74379	GPCR, rhodopsin-like superfamily (1);	0.193001	0.37178	N	0.002214	T	0.01092	0.0036	M	0.93106	3.38	0.34354	D	0.690224	D	0.67145	0.996	D	0.65233	0.933	T	0.41215	-0.9521	10	0.87932	D	0	.	15.0464	0.71830	0.0:0.0:0.0:1.0	.	177	Q7Z3T1	OR2W3_HUMAN	V	177	ENSP00000445853:F177V;ENSP00000353516:F177V	ENSP00000353516:F177V	F	+	1	0	OR2W3	246126040	0.007000	0.16637	1.000000	0.80357	0.970000	0.65996	1.475000	0.35409	2.224000	0.72417	0.491000	0.48974	TTC	OR2W3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000238243		0.647	OR2W3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2W3	HGNC	protein_coding	OTTHUMT00000096861.1	-	0.00	66	0	T	NM_001001957		248059417	+1	tier1	-	no_errors	ENST00000360358	ensembl	human	known	74_37	missense	31.25	44	20	SNP	0.999	G
OR2T10	127069	genome.wustl.edu	37	1	248756934	248756934	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:248756934T>G	ENST00000330500.2	-	1	166	c.136A>C	c.(136-138)Ata>Cta	p.I46L	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCAGAAGTATCAATGTAATA	0.423																																																	0													75.0	80.0	78.0					1																	248756934		2046	4236	6282	SO:0001583	missense	0				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.136A>C	1.37:g.248756934T>G	ENSP00000329210:p.Ile46Leu		B2RNK7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I46L	ENST00000330500.2	37	c.136	CCDS31121.1	1	.	.	.	.	.	.	.	.	.	.	.	8.663	0.900928	0.17760	.	.	ENSG00000184022	ENST00000330500	T	0.36157	1.27	2.34	-0.487	0.12060	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.20941	0.0504	N	0.25094	0.71	0.09310	N	1	B	0.19200	0.034	B	0.20384	0.029	T	0.22661	-1.0210	9	0.42905	T	0.14	.	4.4726	0.11720	0.0:0.127:0.1951:0.6778	.	46	Q8NGZ9	O2T10_HUMAN	L	46	ENSP00000329210:I46L	ENSP00000329210:I46L	I	-	1	0	OR2T10	246823557	0.094000	0.21725	0.566000	0.28421	0.131000	0.20780	1.186000	0.32078	0.034000	0.15491	-0.719000	0.03609	ATA	OR2T10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000184022		0.423	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T10	HGNC	protein_coding	OTTHUMT00000097139.1	-	0.00	26	0	T	NM_001004693		248756934	-1	tier1	-	no_errors	ENST00000330500	ensembl	human	known	74_37	missense	42.86	12	9	SNP	0.009	G
OR52H1	390067	genome.wustl.edu	37	11	5565851	5565851	+	Silent	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:5565851T>C	ENST00000322653.4	-	1	928	c.903A>G	c.(901-903)ggA>ggG	p.G301G	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	301						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTCTTCACTCCGTAAACCA	0.418																																																	0													157.0	153.0	155.0					11																	5565851		2201	4297	6498	SO:0001819	synonymous_variant	0			AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.903A>G	11.37:g.5565851T>C			B9EH26|Q6IF79	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G301	ENST00000322653.4	37	c.903	CCDS31386.1	11																																																																																			OR52H1	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000181616		0.418	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52H1	HGNC	protein_coding	OTTHUMT00000143400.1	-	0.00	52	0	T	NM_001005289		5565851	-1	tier1	-	no_errors	ENST00000322653	ensembl	human	known	74_37	silent	16.28	72	14	SNP	0.990	C
OR4C46	119749	genome.wustl.edu	37	11	51515371	51515371	+	Silent	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:51515371T>C	ENST00000328188.1	+	1	90	c.90T>C	c.(88-90)ttT>ttC	p.F30F		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TTGTGTTTTTTGTCATCTATA	0.433																																																	0													198.0	187.0	191.0					11																	51515371		2201	4296	6497	SO:0001819	synonymous_variant	0				CCDS73288.1	11p11.12	2012-08-09			ENSG00000185926	ENSG00000185926		"""GPCR / Class A : Olfactory receptors"""	31271	protein-coding gene	gene with protein product		614273					Standard	NM_001004703		Approved		uc010ric.2	A6NHA9	OTTHUMG00000166705	ENST00000328188.1:c.90T>C	11.37:g.51515371T>C				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F30	ENST00000328188.1	37	c.90	CCDS31498.1	11																																																																																			OR4C46	-	prints_GPCR_Rhodpsn	ENSG00000185926		0.433	OR4C46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C46	HGNC	protein_coding	OTTHUMT00000391155.1	-	0.00	61	0	T	NM_001004703		51515371	+1	tier1	-	no_errors	ENST00000328188	ensembl	human	known	74_37	silent	21.43	55	15	SNP	0.000	C
OR4C11	219429	genome.wustl.edu	37	11	55371556	55371556	+	Silent	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:55371556T>C	ENST00000302231.4	-	1	318	c.294A>G	c.(292-294)caA>caG	p.Q98Q		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	98						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GTGCAAAGACTTGTGTCATGC	0.423																																																	0													108.0	92.0	97.0					11																	55371556		2179	4005	6184	SO:0001819	synonymous_variant	0			AB065774	CCDS31503.1	11q11	2012-08-09		2004-03-10	ENSG00000172188	ENSG00000172188		"""GPCR / Class A : Olfactory receptors"""	15167	protein-coding gene	gene with protein product				OR4C11P			Standard	NM_001004700		Approved		uc010rii.2	Q6IEV9	OTTHUMG00000165290	ENST00000302231.4:c.294A>G	11.37:g.55371556T>C			B9EIL4|Q8NGL8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q98	ENST00000302231.4	37	c.294	CCDS31503.1	11																																																																																			OR4C11	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000172188		0.423	OR4C11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C11	HGNC	protein_coding	OTTHUMT00000383268.1	-	0.00	32	0	T	NM_001004700		55371556	-1	tier1	-	no_errors	ENST00000302231	ensembl	human	known	74_37	silent	13.04	40	6	SNP	0.966	C
OR5D14	219436	genome.wustl.edu	37	11	55563202	55563202	+	Silent	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:55563202T>C	ENST00000335605.1	+	1	171	c.171T>C	c.(169-171)ttT>ttC	p.F57F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	57						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ACCCCAAATTTCACACTCCTA	0.393																																																	0													226.0	209.0	215.0					11																	55563202		2200	4296	6496	SO:0001819	synonymous_variant	0			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.171T>C	11.37:g.55563202T>C			Q6IF69|Q6IFD4|Q96RB5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F57	ENST00000335605.1	37	c.171	CCDS31508.1	11																																																																																			OR5D14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000186113		0.393	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	-	0.00	89	0	T	NM_001004735		55563202	+1	tier1	-	no_errors	ENST00000335605	ensembl	human	known	74_37	silent	16.98	132	27	SNP	0.316	C
OR5D14	219436	genome.wustl.edu	37	11	55563513	55563513	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:55563513T>A	ENST00000335605.1	+	1	482	c.482T>A	c.(481-483)cTc>cAc	p.L161H		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	161						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				CCCTTGGTACTCCTTTGTTAT	0.478																																																	0													173.0	169.0	170.0					11																	55563513		2200	4296	6496	SO:0001583	missense	0			AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.482T>A	11.37:g.55563513T>A	ENSP00000334456:p.Leu161His		Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L161H	ENST00000335605.1	37	c.482	CCDS31508.1	11	.	.	.	.	.	.	.	.	.	.	t	0	-2.659871	0.00107	.	.	ENSG00000186113	ENST00000335605	T	0.00017	9.09	5.08	3.87	0.44632	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40728	N	0.001038	T	0.00039	0.0001	N	0.01779	-0.725	0.09310	N	1	B	0.19445	0.036	B	0.24006	0.05	T	0.21211	-1.0252	10	0.02654	T	1	-27.458	6.7265	0.23359	0.1491:0.0:0.1542:0.6967	.	161	Q8NGL3	OR5DE_HUMAN	H	161	ENSP00000334456:L161H	ENSP00000334456:L161H	L	+	2	0	OR5D14	55320089	0.001000	0.12720	0.011000	0.14972	0.003000	0.03518	0.741000	0.26202	1.916000	0.55485	0.523000	0.50628	CTC	OR5D14	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000186113		0.478	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5D14	HGNC	protein_coding	OTTHUMT00000391513.1	-	0.00	113	0	T	NM_001004735		55563513	+1	tier1	-	no_errors	ENST00000335605	ensembl	human	known	74_37	missense	8.54	150	14	SNP	0.000	A
OR5K4	403278	genome.wustl.edu	37	3	98073592	98073592	+	Frame_Shift_Del	DEL	A	A	-	rs398102322|rs11288615	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:98073592delA	ENST00000354924.2	+	1	895	c.895delA	c.(895-897)aaafs	p.K300fs	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AAATGTTCTTAAAAAAATTAT	0.254													AAAAAAA|AAAAAAA|AAAAAA|deletion	1683	0.336062	0.2352	0.3588	5008	,	,		16327	0.1319		0.5875	False		,,,				2504	0.408																0													68.0	56.0	60.0					3																	98073592		2111	3952	6063	SO:0001589	frameshift_variant	0				CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.895delA	3.37:g.98073592delA	ENSP00000347003:p.Lys300fs			Frame_Shift_Del	DEL	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I301fs	ENST00000354924.2	37	c.895	CCDS33802.1	3																																																																																			OR5K4	-	NULL	ENSG00000196098		0.254	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5K4	HGNC	protein_coding	OTTHUMT00000359114.1		0.00	32	0	A			98073592	+1	tier1		no_errors	ENST00000354924	ensembl	human	known	74_37	frame_shift_del	9.68	56	6	DEL	0.997	-
OR6K2	81448	genome.wustl.edu	37	1	158670013	158670013	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:158670013T>G	ENST00000359610.2	-	1	473	c.430A>C	c.(430-432)Act>Cct	p.T144P		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CAACTTAAAGTCAGTTGGGTA	0.463																																																	0													120.0	106.0	111.0					1																	158670013		2203	4300	6503	SO:0001583	missense	0			BK004196	CCDS30902.1	1q23.1	2012-08-09			ENSG00000196171	ENSG00000196171		"""GPCR / Class A : Olfactory receptors"""	15029	protein-coding gene	gene with protein product							Standard	NM_001005279		Approved		uc001fsu.1	Q8NGY2	OTTHUMG00000022768	ENST00000359610.2:c.430A>C	1.37:g.158670013T>G	ENSP00000352626:p.Thr144Pro		B9EH33|Q6IFR6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T144P	ENST00000359610.2	37	c.430	CCDS30902.1	1	.	.	.	.	.	.	.	.	.	.	T	13.89	2.373310	0.42105	.	.	ENSG00000196171	ENST00000359610	T	0.37584	1.19	4.84	4.84	0.62591	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39341	N	0.001386	T	0.41949	0.1181	M	0.79258	2.445	0.29031	N	0.885672	D	0.57257	0.979	D	0.67725	0.953	T	0.49523	-0.8931	10	0.87932	D	0	-13.987	5.012	0.14317	0.0:0.0923:0.1871:0.7205	.	144	Q8NGY2	OR6K2_HUMAN	P	144	ENSP00000352626:T144P	ENSP00000352626:T144P	T	-	1	0	OR6K2	156936637	0.013000	0.17824	0.827000	0.32855	0.679000	0.39708	0.886000	0.28241	2.019000	0.59389	0.528000	0.53228	ACT	OR6K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000196171		0.463	OR6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6K2	HGNC	protein_coding	OTTHUMT00000059061.1	-	0.00	9	0	T	NM_001005279		158670013	-1	tier1	-	no_errors	ENST00000359610	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.908	G
OR6F1	343169	genome.wustl.edu	37	1	247876024	247876024	+	Missense_Mutation	SNP	A	A	C	rs534088745	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:247876024A>C	ENST00000302084.2	-	1	81	c.34T>G	c.(34-36)Ttt>Gtt	p.F12V	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	12						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGTAAGAGAAAGTCCTGGGGC	0.463																																																	0													93.0	95.0	94.0					1																	247876024		2203	4300	6503	SO:0001583	missense	0			BK004460	CCDS31095.1	1q44	2012-08-09			ENSG00000169214	ENSG00000169214		"""GPCR / Class A : Olfactory receptors"""	15027	protein-coding gene	gene with protein product							Standard	NM_001005286		Approved	OST731	uc001idj.1	Q8NGZ6	OTTHUMG00000040213	ENST00000302084.2:c.34T>G	1.37:g.247876024A>C	ENSP00000305640:p.Phe12Val		B2RNV6|Q6IF02|Q96R39	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F12V	ENST00000302084.2	37	c.34	CCDS31095.1	1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.554197	0.45487	.	.	ENSG00000169214	ENST00000302084	T	0.04551	3.6	3.8	2.66	0.31614	.	0.000000	0.42821	D	0.000652	T	0.22360	0.0539	M	0.91300	3.195	0.09310	N	1	D	0.76494	0.999	D	0.78314	0.991	T	0.05338	-1.0891	10	0.87932	D	0	-25.9593	6.6974	0.23207	0.8868:0.0:0.1132:0.0	.	12	Q8NGZ6	OR6F1_HUMAN	V	12	ENSP00000305640:F12V	ENSP00000305640:F12V	F	-	1	0	OR6F1	245942647	0.823000	0.29233	0.007000	0.13788	0.003000	0.03518	2.789000	0.47813	0.628000	0.30357	0.482000	0.46254	TTT	OR6F1	-	NULL	ENSG00000169214		0.463	OR6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6F1	HGNC	protein_coding	OTTHUMT00000096870.1	-	0.00	35	0	A	NM_001005286		247876024	-1	tier1	-	no_errors	ENST00000302084	ensembl	human	known	74_37	missense	83.33	5	25	SNP	0.031	C
OR8K1	390157	genome.wustl.edu	37	11	56114008	56114008	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:56114008T>C	ENST00000279783.2	+	1	588	c.494T>C	c.(493-495)cTc>cCc	p.L165P		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TCACTATTTCTCACAATTAAG	0.388										HNSCC(65;0.19)																																							0													165.0	168.0	167.0					11																	56114008		2201	4296	6497	SO:0001583	missense	0			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.494T>C	11.37:g.56114008T>C	ENSP00000279783:p.Leu165Pro		B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L165P	ENST00000279783.2	37	c.494	CCDS31528.1	11	.	.	.	.	.	.	.	.	.	.	T	11.41	1.629756	0.28978	.	.	ENSG00000150261	ENST00000279783	T	0.00207	8.55	5.0	2.52	0.30459	GPCR, rhodopsin-like superfamily (1);	0.362396	0.20437	N	0.092348	T	0.00178	0.0005	N	0.17312	0.475	0.19775	N	0.999951	D	0.55172	0.97	P	0.53266	0.722	T	0.51513	-0.8696	10	0.62326	D	0.03	-9.6528	3.2035	0.06657	0.2864:0.1853:0.0:0.5283	.	165	Q8NGG5	OR8K1_HUMAN	P	165	ENSP00000279783:L165P	ENSP00000279783:L165P	L	+	2	0	OR8K1	55870584	0.000000	0.05858	0.002000	0.10522	0.500000	0.33767	0.085000	0.14912	0.746000	0.32786	0.448000	0.29417	CTC	OR8K1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000150261		0.388	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	HGNC	protein_coding	OTTHUMT00000391605.1	-	0.00	62	0	T	NM_001002907		56114008	+1	tier1	-	no_errors	ENST00000279783	ensembl	human	known	74_37	missense	26.39	53	19	SNP	0.000	C
ORAI3	93129	genome.wustl.edu	37	16	30964968	30964968	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:30964968G>T	ENST00000318663.4	+	2	915	c.691G>T	c.(691-693)Gcc>Tcc	p.A231S	AC135048.13_ENST00000566056.1_RNA|ORAI3_ENST00000562699.1_Intron|ORAI3_ENST00000566237.1_Missense_Mutation_p.A231S	NM_152288.2	NP_689501.1	Q9BRQ5	ORAI3_HUMAN	ORAI calcium release-activated calcium modulator 3	231					store-operated calcium entry (GO:0002115)	integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						ACCCCGGCAAGCCTGTGGTGG	0.657											OREG0023742	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													58.0	71.0	67.0					16																	30964968		2197	4299	6496	SO:0001583	missense	0			BC006126	CCDS10697.1	16p11.2	2007-08-14	2007-08-14	2007-08-14	ENSG00000175938	ENSG00000175938		"""ORAI calcium release-activated calcium modulators"""	28185	protein-coding gene	gene with protein product		610930	"""transmembrane protein 142C"""	TMEM142C		16582901	Standard	NM_152288		Approved	MGC13024	uc002eac.3	Q9BRQ5	OTTHUMG00000132409	ENST00000318663.4:c.691G>T	16.37:g.30964968G>T	ENSP00000322249:p.Ala231Ser	821	Q96BI8	Missense_Mutation	SNP	pfam_CRAC_channel	p.A231S	ENST00000318663.4	37	c.691	CCDS10697.1	16	.	.	.	.	.	.	.	.	.	.	g	3.106	-0.183633	0.06340	.	.	ENSG00000175938	ENST00000318663;ENST00000420438	T	0.30981	1.51	5.58	-3.78	0.04333	.	1.447880	0.04323	N	0.351094	T	0.12263	0.0298	N	0.08118	0	0.09310	N	0.999994	B	0.06786	0.001	B	0.09377	0.004	T	0.17471	-1.0368	10	0.18276	T	0.48	0.2783	2.45	0.04516	0.1448:0.3099:0.3351:0.2101	.	231	Q9BRQ5	ORAI3_HUMAN	S	231	ENSP00000322249:A231S	ENSP00000322249:A231S	A	+	1	0	ORAI3	30872469	.	.	0.004000	0.12327	0.098000	0.18820	.	.	-0.207000	0.10187	-2.176000	0.00320	GCC	ORAI3	-	pfam_CRAC_channel	ENSG00000175938		0.657	ORAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORAI3	HGNC	protein_coding	OTTHUMT00000255545.20		0.00	62	0	G	NM_152288		30964968	+1			no_errors	ENST00000318663	ensembl	human	known	74_37	missense	5.66	50	3	SNP	0.000	T
OSGIN2	734	genome.wustl.edu	37	8	90937464	90937464	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:90937464G>T	ENST00000297438.2	+	6	1577	c.1222G>T	c.(1222-1224)Gca>Tca	p.A408S	OSGIN2_ENST00000451899.2_Missense_Mutation_p.A452S	NM_004337.2	NP_004328.1	Q9Y236	OSGI2_HUMAN	oxidative stress induced growth inhibitor family member 2	408					meiotic nuclear division (GO:0007126)					breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1)	17			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TAAGCTGTCTGCAGCAGTAGT	0.428																																																	0													100.0	102.0	102.0					8																	90937464		2203	4300	6503	SO:0001583	missense	0			AF061326	CCDS6248.1, CCDS47888.1	8q21	2006-10-05	2006-10-05	2006-10-05	ENSG00000164823	ENSG00000164823			1355	protein-coding gene	gene with protein product		604598	"""chromosome 8 open reading frame 1"""	C8orf1		9933573	Standard	NM_004337		Approved	hT41	uc003yeh.3	Q9Y236	OTTHUMG00000163811	ENST00000297438.2:c.1222G>T	8.37:g.90937464G>T	ENSP00000297438:p.Ala408Ser			Missense_Mutation	SNP	NULL	p.A452S	ENST00000297438.2	37	c.1354	CCDS6248.1	8	.	.	.	.	.	.	.	.	.	.	G	10.25	1.297789	0.23650	.	.	ENSG00000164823	ENST00000297438;ENST00000451899	T;T	0.29655	1.56;1.56	5.79	5.79	0.91817	.	0.268758	0.44097	D	0.000484	T	0.22244	0.0536	L	0.27053	0.805	0.80722	D	1	B;B	0.19583	0.037;0.012	B;B	0.17979	0.02;0.009	T	0.05115	-1.0905	10	0.23302	T	0.38	-17.8295	13.2683	0.60146	0.0723:0.0:0.9276:0.0	.	452;408	Q9Y236-2;Q9Y236	.;OSGI2_HUMAN	S	408;452	ENSP00000297438:A408S;ENSP00000396445:A452S	ENSP00000297438:A408S	A	+	1	0	OSGIN2	91006639	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.290000	0.51755	2.750000	0.94351	0.563000	0.77884	GCA	OSGIN2	-	NULL	ENSG00000164823		0.428	OSGIN2-002	KNOWN	basic|CCDS	protein_coding	OSGIN2	HGNC	protein_coding	OTTHUMT00000375691.1	-	0.00	27	0	G	NM_004337		90937464	+1	tier1	-	no_errors	ENST00000451899	ensembl	human	known	74_37	missense	46.67	40	35	SNP	1.000	T
PAX1	5075	genome.wustl.edu	37	20	21687512	21687512	+	Silent	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:21687512G>A	ENST00000398485.2	+	2	777	c.723G>A	c.(721-723)ccG>ccA	p.P241P	PAX1_ENST00000444366.2_Silent_p.P217P|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	241					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						AGCAGCCGCCGTCGCAGCCTA	0.662																																																	0													35.0	41.0	39.0					20																	21687512		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.723G>A	20.37:g.21687512G>A			B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.P241	ENST00000398485.2	37	c.723	CCDS13146.2	20																																																																																			PAX1	-	NULL	ENSG00000125813		0.662	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	-	0.00	85	0	G			21687512	+1	tier1	-	no_errors	ENST00000398485	ensembl	human	known	74_37	silent	45.77	77	65	SNP	0.585	A
PCDH17	27253	genome.wustl.edu	37	13	58208305	58208305	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:58208305T>G	ENST00000377918.3	+	1	1651	c.1625T>G	c.(1624-1626)tTc>tGc	p.F542C		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	542	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCCTTTAACTTCGAGCAGACC	0.577																																					Melanoma(72;952 1291 1619 12849 33676)												0													48.0	47.0	47.0					13																	58208305		2203	4300	6503	SO:0001583	missense	0			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1625T>G	13.37:g.58208305T>G	ENSP00000367151:p.Phe542Cys		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F542C	ENST00000377918.3	37	c.1625	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	T	15.36	2.809931	0.50421	.	.	ENSG00000118946	ENST00000377918	T	0.51574	0.7	5.88	4.7	0.59300	Cadherin (5);Cadherin-like (1);	0.050653	0.85682	D	0.000000	T	0.57681	0.2070	M	0.64404	1.975	0.42485	D	0.992875	P;P	0.48911	0.775;0.917	P;P	0.54856	0.649;0.762	T	0.57376	-0.7822	9	.	.	.	.	12.1894	0.54261	0.8675:0.0:0.0:0.1325	.	542;542	O14917-2;O14917	.;PCD17_HUMAN	C	542	ENSP00000367151:F542C	.	F	+	2	0	PCDH17	57106306	1.000000	0.71417	0.996000	0.52242	0.900000	0.52787	7.485000	0.81204	1.045000	0.40225	-0.527000	0.04329	TTC	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000118946		0.577	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	-	0.00	39	0	T	NM_001040429		58208305	+1	tier1	-	no_errors	ENST00000377918	ensembl	human	known	74_37	missense	43.18	25	19	SNP	1.000	G
PCLO	27445	genome.wustl.edu	37	7	82583544	82583544	+	Missense_Mutation	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:82583544T>C	ENST00000333891.9	-	5	7062	c.6725A>G	c.(6724-6726)gAa>gGa	p.E2242G	PCLO_ENST00000423517.2_Missense_Mutation_p.E2242G	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TACACTTATTTCTTCTGGATA	0.363																																																	0													60.0	58.0	59.0					7																	82583544		1835	4078	5913	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.6725A>G	7.37:g.82583544T>C	ENSP00000334319:p.Glu2242Gly			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.E2242G	ENST00000333891.9	37	c.6725	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	T	7.605	0.673678	0.14841	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18016	2.24;2.24	5.04	5.04	0.67666	.	.	.	.	.	T	0.13500	0.0327	L	0.36672	1.1	0.80722	D	1	B;B	0.30281	0.275;0.275	B;B	0.24701	0.055;0.055	T	0.04454	-1.0950	9	0.87932	D	0	.	9.2449	0.37520	0.0:0.0824:0.0:0.9176	.	2242;2242	Q9Y6V0-5;Q9Y6V0-6	.;.	G	2173;2242;2242	ENSP00000334319:E2242G;ENSP00000388393:E2242G	ENSP00000334319:E2242G	E	-	2	0	PCLO	82421480	0.995000	0.38212	0.998000	0.56505	0.931000	0.56810	2.433000	0.44793	2.199000	0.70637	0.528000	0.53228	GAA	PCLO	-	NULL	ENSG00000186472		0.363	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	30	0	T	NM_014510		82583544	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.996	C
PCLO	27445	genome.wustl.edu	37	7	82764562	82764562	+	Silent	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:82764562A>G	ENST00000333891.9	-	3	2641	c.2304T>C	c.(2302-2304)tcT>tcC	p.S768S	PCLO_ENST00000423517.2_Silent_p.S768S	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGATGATGAAGATACAAGGT	0.458																																																	0													201.0	182.0	188.0					7																	82764562		1915	4133	6048	SO:0001819	synonymous_variant	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.2304T>C	7.37:g.82764562A>G				Silent	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S768	ENST00000333891.9	37	c.2304	CCDS47630.1	7																																																																																			PCLO	-	NULL	ENSG00000186472		0.458	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	62	0	A	NM_014510		82764562	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	silent	40.35	34	23	SNP	0.002	G
PCLO	27445	genome.wustl.edu	37	7	82784486	82784486	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:82784486G>T	ENST00000333891.9	-	2	1808	c.1471C>A	c.(1471-1473)Cct>Act	p.P491T	PCLO_ENST00000423517.2_Missense_Mutation_p.P491T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGCTGTTGAGGTGGGGGCTTT	0.607																																																	0													78.0	87.0	84.0					7																	82784486		1945	4128	6073	SO:0001583	missense	0			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1471C>A	7.37:g.82784486G>T	ENSP00000334319:p.Pro491Thr			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.P491T	ENST00000333891.9	37	c.1471	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	G	0.386	-0.926218	0.02377	.	.	ENSG00000186472	ENST00000333891;ENST00000423517	T;T	0.15372	2.43;2.43	4.81	-9.62	0.00547	.	.	.	.	.	T	0.09642	0.0237	L	0.37630	1.12	0.27997	N	0.935438	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.36648	-0.9739	9	0.87932	D	0	.	3.9496	0.09363	0.1996:0.454:0.1901:0.1563	.	491;491	Q9Y6V0-5;Q9Y6V0-6	.;.	T	491	ENSP00000334319:P491T;ENSP00000388393:P491T	ENSP00000334319:P491T	P	-	1	0	PCLO	82622422	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.861000	0.04268	-2.036000	0.00922	-0.367000	0.07326	CCT	PCLO	-	NULL	ENSG00000186472		0.607	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	-	0.00	26	0	G	NM_014510		82784486	-1	tier1	-	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.000	T
PDE11A	50940	genome.wustl.edu	37	2	178494173	178494173	+	Missense_Mutation	SNP	G	G	A	rs397723704|rs3830637	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:178494173G>A	ENST00000286063.6	-	20	3081	c.2764C>T	c.(2764-2766)Cct>Tct	p.P922S	PDE11A_ENST00000449286.2_Missense_Mutation_p.P564S|PDE11A_ENST00000358450.4_Missense_Mutation_p.P672S|PDE11A_ENST00000450799.2_Missense_Mutation_p.P113S|PDE11A_ENST00000389683.3_Missense_Mutation_p.P478S|PDE11A_ENST00000409504.1_Missense_Mutation_p.P564S	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	922					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|signal transduction (GO:0007165)	cytosol (GO:0005829)|perikaryon (GO:0043204)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|cyclic-nucleotide phosphodiesterase activity (GO:0004112)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)		Caffeine(DB00201)|Tadalafil(DB00820)	ACACTGGCAGGGGAGGATGAG	0.502									Primary Pigmented Nodular Adrenocortical Disease, Familial																																								0													236.0	179.0	198.0					2																	178494173		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	iPPNAD, PPNAD1, incl. familial micronodular adrenocortical hyperplasia, PPNAD2	AJ251509	CCDS33334.1, CCDS42785.1, CCDS42786.1, CCDS46459.1	2q31.3	2010-06-22			ENSG00000128655	ENSG00000128655	3.1.4.17	"""Phosphodiesterases"""	8773	protein-coding gene	gene with protein product		604961				10725373	Standard	NM_001077196		Approved		uc002ulq.3	Q9HCR9	OTTHUMG00000154188	ENST00000286063.6:c.2764C>T	2.37:g.178494173G>A	ENSP00000286063:p.Pro922Ser		Q14CD1|Q53T16|Q96S76|Q9GZY7|Q9HB46|Q9NY45	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.P922S	ENST00000286063.6	37	c.2764	CCDS33334.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.28|11.28	1.592474|1.592474	0.28357|0.28357	.|.	.|.	ENSG00000128655|ENSG00000128655	ENST00000436700|ENST00000286063;ENST00000358450;ENST00000450799;ENST00000409504;ENST00000389683;ENST00000449286	.|T;T;T;T;T;T	.|0.70749	.|-0.17;0.06;-0.1;-0.06;-0.51;-0.06	5.62|5.62	-0.681|-0.681	0.11342|0.11342	.|.	3.486060|3.486060	0.00890|0.00890	N|N	0.002221|0.002221	T|T	0.49915|0.49915	0.1585|0.1585	N|N	0.14661|0.14661	0.345|0.345	0.20196|0.20196	N|N	0.99993|0.99993	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.28235|0.28235	-1.0050|-1.0050	6|10	.|0.36615	.|T	.|0.2	.|.	0.627|0.627	0.00788|0.00788	0.3361:0.1255:0.2887:0.2497|0.3361:0.1255:0.2887:0.2497	.|.	.|672;922	.|Q9HCR9-2;Q9HCR9	.|.;PDE11_HUMAN	L|S	124|922;672;113;564;478;564	.|ENSP00000286063:P922S;ENSP00000351232:P672S;ENSP00000387964:P113S;ENSP00000386539:P564S;ENSP00000374333:P478S;ENSP00000390599:P564S	.|ENSP00000286063:P922S	P|P	-|-	2|1	0|0	PDE11A|PDE11A	178202419|178202419	0.452000|0.452000	0.25713|0.25713	0.002000|0.002000	0.10522|0.10522	0.053000|0.053000	0.15095|0.15095	0.290000|0.290000	0.18975|0.18975	-0.018000|-0.018000	0.14079|0.14079	-0.293000|-0.293000	0.09583|0.09583	CCC|CCT	PDE11A	-	NULL	ENSG00000128655		0.502	PDE11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE11A	HGNC	protein_coding	OTTHUMT00000334313.2		0.00	77	0	G			178494173	-1			no_errors	ENST00000286063	ensembl	human	known	74_37	missense	6.31	104	7	SNP	0.002	A
PHYHIPL	84457	genome.wustl.edu	37	10	60994157	60994157	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:60994157A>G	ENST00000373880.4	+	2	464	c.200A>G	c.(199-201)aAg>aGg	p.K67R	PHYHIPL_ENST00000373878.3_Missense_Mutation_p.K41R	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	67	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						GACTCATTCAAGATTTCATGG	0.358																																																	0													116.0	102.0	107.0					10																	60994157		2203	4300	6503	SO:0001583	missense	0			AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"""Fibronectin type III domain containing"""	29378	protein-coding gene	gene with protein product			"""phytanoyl-CoA hydroxylase interacting protein-like"""			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.200A>G	10.37:g.60994157A>G	ENSP00000362987:p.Lys67Arg		B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.K67R	ENST00000373880.4	37	c.200	CCDS7254.1	10	.	.	.	.	.	.	.	.	.	.	A	8.770	0.925584	0.18056	.	.	ENSG00000165443	ENST00000373880;ENST00000373878	T;T	0.56275	0.47;0.47	5.62	5.62	0.85841	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.123818	0.52532	D	0.000072	T	0.30166	0.0756	N	0.04203	-0.255	0.80722	D	1	B;B	0.12013	0.005;0.004	B;B	0.10450	0.003;0.005	T	0.20009	-1.0288	10	0.09590	T	0.72	-38.9622	16.1172	0.81314	1.0:0.0:0.0:0.0	.	41;67	Q96FC7-2;Q96FC7	.;PHIPL_HUMAN	R	67;41	ENSP00000362987:K67R;ENSP00000362985:K41R	ENSP00000362985:K41R	K	+	2	0	PHYHIPL	60664163	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.322000	0.72886	2.266000	0.75297	0.533000	0.62120	AAG	PHYHIPL	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000165443		0.358	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHYHIPL	HGNC	protein_coding	OTTHUMT00000048156.1	-	0.00	31	0	A	NM_032439		60994157	+1	tier1	-	no_errors	ENST00000373880	ensembl	human	known	74_37	missense	41.46	24	17	SNP	1.000	G
PKP1	5317	genome.wustl.edu	37	1	201297884	201297884	+	Intron	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:201297884T>G	ENST00000352845.3	+	14	2169				PKP1_ENST00000367324.3_Intron|PKP1_ENST00000263946.3_Intron			Q13835	PKP1_HUMAN	plakophilin 1						apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GTTTCTCCCTTTGCAGCAAGG	0.542																																																	0													159.0	153.0	155.0					1																	201297884		2203	4300	6503	SO:0001627	intron_variant	0			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.2170-6T>G	1.37:g.201297884T>G			O00645|Q14CA0|Q15152	RNA	SNP	-	NULL	ENST00000352845.3	37	NULL	CCDS30966.1	1																																																																																			PKP1	-	-	ENSG00000081277		0.542	PKP1-004	KNOWN	basic|CCDS	protein_coding	PKP1	HGNC	protein_coding	OTTHUMT00000086897.1	-	0.00	74	0	T	NM_000299		201297884	+1	tier1	-	no_errors	ENST00000477817	ensembl	human	known	74_37	rna	45.95	40	34	SNP	0.037	G
PLCE1	51196	genome.wustl.edu	37	10	96058377	96058377	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:96058377G>A	ENST00000371380.3	+	23	5644	c.5409G>A	c.(5407-5409)atG>atA	p.M1803I	PLCE1_ENST00000371375.1_Missense_Mutation_p.M1495I|PLCE1_ENST00000260766.3_Missense_Mutation_p.M1803I|PLCE1_ENST00000371385.3_Missense_Mutation_p.M1495I			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1803	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACCCCCTCATGTTCTGGCTCC	0.542																																																	0													125.0	124.0	124.0					10																	96058377		2049	4198	6247	SO:0001583	missense	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5409G>A	10.37:g.96058377G>A	ENSP00000360431:p.Met1803Ile		A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.M1803I	ENST00000371380.3	37	c.5409	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	6.180	0.401395	0.11696	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.82	0.739	0.18324	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific, Y domain (3);	0.490324	0.23847	N	0.043991	T	0.13114	0.0318	N	0.00729	-1.24	0.32769	N	0.504036	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.14671	-1.0464	10	0.17832	T	0.49	.	5.6697	0.17715	0.1376:0.5113:0.2404:0.1107	.	1787;1495;1803	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	I	1803;1803;1495;1495	ENSP00000260766:M1803I;ENSP00000360431:M1803I;ENSP00000360438:M1495I;ENSP00000360426:M1495I	ENSP00000260766:M1803I	M	+	3	0	PLCE1	96048367	0.988000	0.35896	0.992000	0.48379	0.978000	0.69477	0.280000	0.18790	0.093000	0.17368	-0.175000	0.13238	ATG	PLCE1	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	ENSG00000138193		0.542	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	-	0.00	40	0	G	NM_016341		96058377	+1	tier1	-	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.981	A
PLCL1	5334	genome.wustl.edu	37	2	198968589	198968589	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:198968589A>C	ENST00000428675.1	+	5	3432	c.3034A>C	c.(3034-3036)Aaa>Caa	p.K1012Q	PLCL1_ENST00000437704.2_Missense_Mutation_p.K914Q	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	1012					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTTGGGGGCAAAAGAAGGCTT	0.383																																																	0													76.0	76.0	76.0					2																	198968589		2203	4300	6503	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.3034A>C	2.37:g.198968589A>C	ENSP00000402861:p.Lys1012Gln		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.K1012Q	ENST00000428675.1	37	c.3034	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	A	21.0	4.087369	0.76642	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.18502	2.21;2.24	5.15	5.15	0.70609	.	0.000000	0.64402	D	0.000003	T	0.27629	0.0679	M	0.80982	2.52	0.58432	D	0.99999	P;P	0.34757	0.467;0.467	B;B	0.38683	0.279;0.279	T	0.04153	-1.0973	9	.	.	.	.	14.1073	0.65099	1.0:0.0:0.0:0.0	.	1012;938	Q15111;B4DYZ4	PLCL1_HUMAN;.	Q	1012;914	ENSP00000402861:K1012Q;ENSP00000414138:K914Q	.	K	+	1	0	PLCL1	198676834	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.141000	0.89618	2.164000	0.68074	0.528000	0.53228	AAA	PLCL1	-	NULL	ENSG00000115896		0.383	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	-	0.00	45	0	A	NM_006226		198968589	+1	tier1	-	no_errors	ENST00000428675	ensembl	human	known	74_37	missense	30.19	37	16	SNP	1.000	C
PLCXD3	345557	genome.wustl.edu	37	5	41381955	41381955	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:41381955C>A	ENST00000377801.3	-	2	859	c.785G>T	c.(784-786)aGt>aTt	p.S262I	PLCXD3_ENST00000328457.3_Missense_Mutation_p.S262I			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	262					lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TCTGAGGCCACTTGCCACCCC	0.418																																																	0													80.0	84.0	83.0					5																	41381955		2203	4300	6503	SO:0001583	missense	0				CCDS34150.1	5p13.1	2004-09-09			ENSG00000182836	ENSG00000182836			31822	protein-coding gene	gene with protein product							Standard	NM_001005473		Approved		uc003jmm.1	Q63HM9	OTTHUMG00000162076	ENST00000377801.3:c.785G>T	5.37:g.41381955C>A	ENSP00000367032:p.Ser262Ile		A6NL04	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom	p.S262I	ENST00000377801.3	37	c.785	CCDS34150.1	5	.	.	.	.	.	.	.	.	.	.	C	21.1	4.091658	0.76756	.	.	ENSG00000182836	ENST00000377801;ENST00000328457	.	.	.	6.07	6.07	0.98685	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.036051	0.85682	D	0.000000	T	0.76702	0.4024	L	0.60455	1.87	0.80722	D	1	D	0.61697	0.99	D	0.66497	0.944	T	0.72100	-0.4392	9	0.38643	T	0.18	-11.2139	20.6593	0.99626	0.0:1.0:0.0:0.0	.	262	Q63HM9	PLCX3_HUMAN	I	262	.	ENSP00000333751:S262I	S	-	2	0	PLCXD3	41417712	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.397000	0.79903	2.885000	0.99019	0.655000	0.94253	AGT	PLCXD3	-	superfamily_PLC-like_Pdiesterase_TIM-brl	ENSG00000182836		0.418	PLCXD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCXD3	HGNC	protein_coding	OTTHUMT00000367109.1	-	0.00	127	0	C	XM_293875		41381955	-1	tier1	-	no_errors	ENST00000328457	ensembl	human	known	74_37	missense	38.18	68	42	SNP	1.000	A
PLEKHM1	9842	genome.wustl.edu	37	17	43545713	43545713	+	Silent	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:43545713T>C	ENST00000430334.3	-	5	1303	c.1170A>G	c.(1168-1170)gtA>gtG	p.V390V	RN7SL730P_ENST00000583727.1_RNA|PLEKHM1_ENST00000421073.2_Silent_p.V301V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	390					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					AGGTGCTCTCTACAGGCTGCT	0.637																																																	0													20.0	21.0	21.0					17																	43545713		2203	4299	6502	SO:0001819	synonymous_variant	0			X85792	CCDS32671.1	17q21.31	2013-01-11				ENSG00000225190		"""Pleckstrin homology (PH) domain containing"""	29017	protein-coding gene	gene with protein product		611466				9205841, 12820725	Standard	NM_014798		Approved	KIAA0356	uc002ija.3	Q9Y4G2		ENST00000430334.3:c.1170A>G	17.37:g.43545713T>C			Q6P2R5|Q8TEL9|Q9NPP5|Q9NYA0	Silent	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.V390	ENST00000430334.3	37	c.1170	CCDS32671.1	17																																																																																			PLEKHM1	-	NULL	ENSG00000225190		0.637	PLEKHM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM1	HGNC	protein_coding	OTTHUMT00000444659.1	-	0.00	80	0	T	NM_014798		43545713	-1	tier1	-	no_errors	ENST00000430334	ensembl	human	known	74_37	silent	25.81	69	24	SNP	0.000	C
PLEKHM3	389072	genome.wustl.edu	37	2	208866231	208866231	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:208866231G>T	ENST00000427836.2	-	2	622	c.133C>A	c.(133-135)Ctg>Atg	p.L45M	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.L45M|PLEKHM3_ENST00000457206.1_Missense_Mutation_p.L45M	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	45					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGCCCCACCAGTTCAGGGACT	0.478																																																	0													110.0	110.0	110.0					2																	208866231		1939	4145	6084	SO:0001583	missense	0			AK057612	CCDS42808.1	2q33.3	2013-01-10	2008-04-03	2008-04-03	ENSG00000178385	ENSG00000178385		"""Pleckstrin homology (PH) domain containing"""	34006	protein-coding gene	gene with protein product	"""differentiation associated protein"""		"""pleckstrin homology domain containing, family M, member 1-like"""	PLEKHM1L		19028694	Standard	NM_001080475		Approved	DAPR	uc002vcl.2	Q6ZWE6	OTTHUMG00000154781	ENST00000427836.2:c.133C>A	2.37:g.208866231G>T	ENSP00000417003:p.Leu45Met		B9EKV2|Q8WW68	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L45M	ENST00000427836.2	37	c.133	CCDS42808.1	2	.	.	.	.	.	.	.	.	.	.	G	17.67	3.448185	0.63178	.	.	ENSG00000178385	ENST00000427836;ENST00000389247;ENST00000457206	D;D;D	0.87729	-2.2;-2.22;-2.29	5.84	0.755	0.18415	.	0.427671	0.21293	N	0.076929	D	0.87038	0.6078	L	0.29908	0.895	0.31982	N	0.605797	D;D	0.89917	1.0;0.998	D;P	0.69307	0.963;0.897	D	0.85830	0.1391	10	0.72032	D	0.01	.	9.9598	0.41688	0.4913:0.0:0.5087:0.0	.	45;45	C9J119;Q6ZWE6	.;PKHM3_HUMAN	M	45	ENSP00000417003:L45M;ENSP00000373899:L45M;ENSP00000400150:L45M	ENSP00000373899:L45M	L	-	1	2	PLEKHM3	208574476	0.962000	0.33011	0.998000	0.56505	0.993000	0.82548	0.291000	0.18994	0.136000	0.18733	0.650000	0.86243	CTG	PLEKHM3	-	NULL	ENSG00000178385		0.478	PLEKHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHM3	HGNC	protein_coding	OTTHUMT00000337036.1	-	0.00	28	0	G	NM_001080475		208866231	-1	tier1	-	no_errors	ENST00000427836	ensembl	human	known	74_37	missense	56.52	20	26	SNP	0.993	T
PMF1	11243	genome.wustl.edu	37	1	156203459	156203459	+	Missense_Mutation	SNP	C	C	A	rs11548876		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:156203459C>A	ENST00000368273.4	+	3	324	c.314C>A	c.(313-315)gCt>gAt	p.A105D	PMF1_ENST00000368277.3_Missense_Mutation_p.A103D|PMF1_ENST00000368279.3_Missense_Mutation_p.A103D|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.A103D|PMF1_ENST00000567140.1_Missense_Mutation_p.A103D|PMF1_ENST00000565805.1_Missense_Mutation_p.A103D|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.A103D|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.A103D	NM_001199654.1	NP_001186583.1			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					AACCTAGAAGCTGTCTTGAAT	0.483																																					Pancreas(32;764 914 7316 34504 37150)|Ovarian(64;846 1195 21996 34382 40415)												0													145.0	152.0	150.0					1																	156203459		2203	4300	6503	SO:0001583	missense	0			AF141310	CCDS30886.1, CCDS55648.1, CCDS55649.1	1q22	2013-07-03			ENSG00000160783	ENSG00000160783			9112	protein-coding gene	gene with protein product		609176				10419538	Standard	NM_007221		Approved			Q6P1K2	OTTHUMG00000177123	ENST00000368273.4:c.314C>A	1.37:g.156203459C>A	ENSP00000357256:p.Ala105Asp			Missense_Mutation	SNP	pfam_Nnf1	p.A103D	ENST00000368273.4	37	c.308	CCDS55648.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080173	0.76528	.	.	ENSG00000160783	ENST00000368279;ENST00000368273;ENST00000368277;ENST00000368276;ENST00000320139	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	5.22	4.3	0.51218	.	0.402171	0.25723	N	0.028740	T	0.27205	0.0667	L	0.49126	1.545	0.33211	D	0.553368	D;D;D	0.58268	0.96;0.959;0.982	P;P;P	0.55055	0.648;0.696;0.767	T	0.12041	-1.0563	10	0.54805	T	0.06	-5.5341	11.1788	0.48616	0.1841:0.8159:0.0:0.0	.	103;103;103	Q6P1K2-3;Q5TCK1;Q6P1K2	.;.;PMF1_HUMAN	D	103;105;103;103;103	ENSP00000357262:A103D;ENSP00000357256:A105D;ENSP00000357260:A103D;ENSP00000357259:A103D;ENSP00000324909:A103D	ENSP00000324909:A103D	A	+	2	0	PMF1	154470083	0.696000	0.27757	0.859000	0.33776	0.938000	0.57974	1.056000	0.30480	1.206000	0.43276	0.491000	0.48974	GCT	PMF1-BGLAP	-	pfam_Nnf1	ENSG00000260238		0.483	PMF1-005	KNOWN	basic|exp_conf|CCDS	protein_coding	PMF1-BGLAP	HGNC	protein_coding	OTTHUMT00000040864.2	-	0.00	19	0	C	NM_007221		156203459	+1	tier1	-	no_errors	ENST00000368276	ensembl	human	known	74_37	missense	14.52	53	9	SNP	0.927	A
POLQ	10721	genome.wustl.edu	37	3	121200659	121200659	+	Splice_Site	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:121200659C>T	ENST00000264233.5	-	19	6099	c.5971G>A	c.(5971-5973)Gtg>Atg	p.V1991M		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1991					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAGCATGCCACCTGAATGGGA	0.398								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													71.0	72.0	72.0					3																	121200659		2203	4300	6503	SO:0001630	splice_region_variant	0			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.5971-1G>A	3.37:g.121200659C>T			O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.V1991M	ENST00000264233.5	37	c.5971	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023108	0.75275	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.24538	1.85	5.17	5.17	0.71159	Ribonuclease H-like (1);	0.136270	0.49916	D	0.000125	T	0.52885	0.1762	M	0.70275	2.135	0.38198	D	0.940098	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.58880	-0.7558	10	0.87932	D	0	.	18.8557	0.92251	0.0:1.0:0.0:0.0	.	1991;1163	O75417;O75417-2	DPOLQ_HUMAN;.	M	1614;1991;2127	ENSP00000264233:V1991M	ENSP00000264233:V1991M	V	-	1	0	POLQ	122683349	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.070000	0.50033	2.688000	0.91661	0.650000	0.86243	GTG	POLQ	-	superfamily_RNaseH-like_dom	ENSG00000051341		0.398	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1		0.00	14	0	C	NM_199420	Missense_Mutation	121200659	-1			no_errors	ENST00000264233	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	T
POLR3A	11128	genome.wustl.edu	37	10	79762008	79762008	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:79762008C>T	ENST00000372371.3	-	17	2443	c.2306G>A	c.(2305-2307)cGg>cAg	p.R769Q		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	769					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTCCAGCTCCCGGAGGCAGGC	0.592																																																	0													72.0	59.0	64.0					10																	79762008		2203	4300	6503	SO:0001583	missense	0			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.2306G>A	10.37:g.79762008C>T	ENSP00000361446:p.Arg769Gln		Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.R769Q	ENST00000372371.3	37	c.2306	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832079	0.71258	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	T	0.75938	-0.98	5.49	4.56	0.56223	RNA polymerase Rpb1, domain 4 (1);	0.108901	0.64402	D	0.000010	T	0.62998	0.2474	L	0.41079	1.255	0.58432	D	0.999999	P	0.39157	0.662	B	0.30495	0.116	T	0.62369	-0.6869	9	.	.	.	-17.355	15.7148	0.77658	0.1377:0.8623:0.0:0.0	.	769	O14802	RPC1_HUMAN	Q	769	ENSP00000361446:R769Q	.	R	-	2	0	POLR3A	79432014	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	7.206000	0.77891	1.395000	0.46643	0.655000	0.94253	CGG	POLR3A	-	pfam_RNA_pol_Rpb1_4	ENSG00000148606		0.592	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	-	0.00	38	0	C	NM_007055		79762008	-1	tier1	-	no_errors	ENST00000372371	ensembl	human	known	74_37	missense	67.31	17	35	SNP	1.000	T
POU6F2	11281	genome.wustl.edu	37	7	39379320	39379320	+	Silent	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:39379320T>C	ENST00000403058.1	+	6	745	c.591T>C	c.(589-591)ccT>ccC	p.P197P	POU6F2_ENST00000559001.1_Silent_p.P189P|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000518318.2_Silent_p.P197P	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	197	Gln-rich.|Pro-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						agcagcagcCTCCCCCGTCAA	0.667																																																	0													16.0	19.0	18.0					7																	39379320		2198	4290	6488	SO:0001819	synonymous_variant	0			U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.591T>C	7.37:g.39379320T>C			A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.P197	ENST00000403058.1	37	c.591	CCDS34620.2	7																																																																																			POU6F2	-	NULL	ENSG00000106536		0.667	POU6F2-002	KNOWN	basic|CCDS	protein_coding	POU6F2	HGNC	protein_coding	OTTHUMT00000320146.3		0.00	51	0	T	NM_007252		39379320	+1			no_errors	ENST00000403058	ensembl	human	known	74_37	silent	10.26	35	4	SNP	0.000	C
PPFIA2	8499	genome.wustl.edu	37	12	81675120	81675120	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:81675120T>G	ENST00000549396.1	-	27	3288	c.3128A>C	c.(3127-3129)gAa>gCa	p.E1043A	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Missense_Mutation_p.E1043A|PPFIA2_ENST00000541570.2_Missense_Mutation_p.E579A|PPFIA2_ENST00000550359.2_Missense_Mutation_p.E890A|PPFIA2_ENST00000407050.4_Missense_Mutation_p.E942A|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000541017.1_Missense_Mutation_p.E229A|PPFIA2_ENST00000549325.1_Missense_Mutation_p.E1028A|PPFIA2_ENST00000548586.1_Missense_Mutation_p.E1037A|PPFIA2_ENST00000443686.3_Missense_Mutation_p.E938A|PPFIA2_ENST00000552948.1_Missense_Mutation_p.E1022A|PPFIA2_ENST00000333447.7_Missense_Mutation_p.E1028A	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	1043	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TACCAAGCATTCCATAAAGTA	0.393																																																	0													105.0	100.0	102.0					12																	81675120		1839	4097	5936	SO:0001583	missense	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.3128A>C	12.37:g.81675120T>G	ENSP00000450337:p.Glu1043Ala		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E1043A	ENST00000549396.1	37	c.3128	CCDS55857.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.6|25.6	4.656469|4.656469	0.88154|0.88154	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948|ENST00000550018	T;T;T;T;T;T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95;0.95|.	5.42|5.42	5.42|5.42	0.78866|0.78866	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72827|0.72827	0.3509|0.3509	M|M	0.68728|0.68728	2.09|2.09	0.80722|0.80722	D|D	1|1	D|.	0.58268|.	0.982|.	D|.	0.77004|.	0.989|.	T|T	0.72643|0.72643	-0.4231|-0.4231	10|5	0.72032|.	D|.	0.01|.	-20.5676|-20.5676	15.7394|15.7394	0.77876|0.77876	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1043|.	O75334|.	LIPA2_HUMAN|.	A|H	1043;1028;579;229;942;1054;1028;1037;938;1022|146	ENSP00000450337:E1043A;ENSP00000450298:E1028A;ENSP00000438337:E579A;ENSP00000445532:E229A;ENSP00000385093:E942A;ENSP00000327416:E1028A;ENSP00000449338:E1037A;ENSP00000388373:E938A;ENSP00000447868:E1022A|.	ENSP00000327416:E1028A|.	E|N	-|-	2|1	0|0	PPFIA2|PPFIA2	80199251|80199251	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.941000|7.941000	0.87700|0.87700	2.183000|2.183000	0.69458|0.69458	0.397000|0.397000	0.26171|0.26171	GAA|AAT	PPFIA2	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000139220		0.393	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	-	0.00	28	0	T			81675120	-1	tier1	-	no_errors	ENST00000549396	ensembl	human	known	74_37	missense	34.78	15	8	SNP	1.000	G
PREX2	80243	genome.wustl.edu	37	8	68972921	68972921	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:68972921G>C	ENST00000288368.4	+	11	1523	c.1246G>C	c.(1246-1248)Gtg>Ctg	p.V416L	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	416	DEP 1. {ECO:0000255|PROSITE- ProRule:PRU00066}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGCGAATTTGTGTCATGGCT	0.408																																																	0													92.0	91.0	92.0					8																	68972921		2203	4300	6503	SO:0001583	missense	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.1246G>C	8.37:g.68972921G>C	ENSP00000288368:p.Val416Leu		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V416L	ENST00000288368.4	37	c.1246	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	G	34	5.314365	0.95655	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.34275	1.37	5.69	5.69	0.88448	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	M	0.90369	3.11	0.80722	D	1	D;D;D	0.62365	0.972;0.991;0.988	P;D;D	0.70935	0.891;0.971;0.95	T	0.75147	-0.3420	10	0.87932	D	0	.	19.817	0.96573	0.0:0.0:1.0:0.0	.	416;416;416	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	L	416	ENSP00000288368:V416L	ENSP00000288368:V416L	V	+	1	0	PREX2	69135475	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.678000	0.91216	0.655000	0.94253	GTG	PREX2	-	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	ENSG00000046889		0.408	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	-	0.00	38	0	G	NM_025170		68972921	+1	tier1	-	no_errors	ENST00000288368	ensembl	human	known	74_37	missense	11.86	52	7	SNP	1.000	C
PROS1	5627	genome.wustl.edu	37	3	93617396	93617396	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:93617396C>T	ENST00000394236.3	-	8	1061	c.745G>A	c.(745-747)Gag>Aag	p.E249K	PROS1_ENST00000407433.1_Missense_Mutation_p.E118K	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	249	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.		E -> K (in THPH5). {ECO:0000269|PubMed:7803790}.		blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CACATGTTCTCAGAGCATTCA	0.378																																																	0			GRCh37	CD041929|CM041821|CM951049	PROS1	D|M							89.0	81.0	84.0					3																	93617396		2203	4300	6503	SO:0001583	missense	0				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.745G>A	3.37:g.93617396C>T	ENSP00000377783:p.Glu249Lys		A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,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.E249K	ENST00000394236.3	37	c.745	CCDS2923.1	3	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359755	0.82353	.	.	ENSG00000184500	ENST00000394236;ENST00000407433	D;D	0.92805	-3.11;-3.11	4.26	4.26	0.50523	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.303370	0.30593	N	0.009294	D	0.90459	0.7012	L	0.36672	1.1	0.45883	D	0.998731	D	0.55172	0.97	P	0.49332	0.607	D	0.89643	0.3864	10	0.33141	T	0.24	.	17.2048	0.86914	0.0:1.0:0.0:0.0	.	249	P07225	PROS_HUMAN	K	249;118	ENSP00000377783:E249K;ENSP00000385794:E118K	ENSP00000377783:E249K	E	-	1	0	PROS1	95100086	1.000000	0.71417	0.996000	0.52242	0.885000	0.51271	3.315000	0.51951	2.374000	0.81015	0.585000	0.79938	GAG	PROS1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000184500		0.378	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	HGNC	protein_coding	OTTHUMT00000317762.1	-	0.00	54	0	C	NM_000313		93617396	-1	tier1	-	no_errors	ENST00000394236	ensembl	human	known	74_37	missense	9.57	85	9	SNP	0.998	T
PRRC2B	84726	genome.wustl.edu	37	9	134358095	134358095	+	Splice_Site	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr9:134358095A>C	ENST00000357304.4	+	21	5230		c.e21-1		PRRC2B_ENST00000372249.1_Splice_Site|SNORD62A_ENST00000428514.1_RNA|PRRC2B_ENST00000458550.1_Splice_Site|PRRC2B_ENST00000405995.1_Splice_Site	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B								poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TTTTTTATCAAGGATTCAGAA	0.527																																																	0													22.0	24.0	23.0					9																	134358095		1960	4136	6096	SO:0001630	splice_region_variant	0			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.5176-1A>C	9.37:g.134358095A>C			O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Splice_Site	SNP	-	e21-2	ENST00000357304.4	37	c.5176-2	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	A	16.40	3.111614	0.56398	.	.	ENSG00000130723	ENST00000405995;ENST00000357304;ENST00000458550;ENST00000451855	.	.	.	4.87	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.5685	0.27894	0.8303:0.0:0.1697:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRRC2B	133347916	1.000000	0.71417	0.972000	0.41901	0.938000	0.57974	8.730000	0.91510	1.825000	0.53177	0.459000	0.35465	.	PRRC2B	-	-	ENSG00000130723		0.527	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		-	0.00	38	0	A		Intron	134358095	+1	tier1	-	no_errors	ENST00000357304	ensembl	human	known	74_37	splice_site	37.84	23	14	SNP	0.996	C
PSMD1	5707	genome.wustl.edu	37	2	232018342	232018342	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:232018342A>C	ENST00000308696.6	+	19	2342	c.2180A>C	c.(2179-2181)aAg>aCg	p.K727T	PSMD1_ENST00000373635.4_Missense_Mutation_p.K727T|PSMD1_ENST00000409643.1_Missense_Mutation_p.K727T	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	727					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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GTCATGGCCAAGTTTGGCGCT	0.353																																																	0													114.0	106.0	109.0					2																	232018342		2203	4300	6503	SO:0001583	missense	0			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.2180A>C	2.37:g.232018342A>C	ENSP00000309474:p.Lys727Thr		B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Missense_Mutation	SNP	pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.K727T	ENST00000308696.6	37	c.2180	CCDS2482.1	2	.	.	.	.	.	.	.	.	.	.	A	27.4	4.823551	0.90873	.	.	ENSG00000173692	ENST00000308696;ENST00000373635;ENST00000409643	T;T;T	0.37411	1.2;1.2;1.2	5.59	5.59	0.84812	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69196	0.3084	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	0.989;1.0	D;D	0.85130	0.912;0.997	T	0.77638	-0.2513	10	0.66056	D	0.02	-18.4446	15.7648	0.78117	1.0:0.0:0.0:0.0	.	727;727	Q99460;Q99460-2	PSMD1_HUMAN;.	T	727	ENSP00000309474:K727T;ENSP00000362738:K727T;ENSP00000386932:K727T	ENSP00000309474:K727T	K	+	2	0	PSMD1	231726586	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.932000	0.92897	2.112000	0.64535	0.482000	0.46254	AAG	PSMD1	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	ENSG00000173692		0.353	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2	-	0.00	40	0	A			232018342	+1	tier1	-	no_errors	ENST00000308696	ensembl	human	known	74_37	missense	20.00	44	11	SNP	1.000	C
PTK2	5747	genome.wustl.edu	37	8	141754888	141754888	+	Intron	DEL	G	G	-	rs369326396|rs79761757|rs374855180|rs372806706		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:141754888delG	ENST00000522684.1	-	19	1748				PTK2_ENST00000521059.1_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000519465.1_Intron|PTK2_ENST00000520151.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000535192.1_Intron	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|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 ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			ATGACCAAAAGAAAAAAAAAA	0.308																																																	0													33.0	33.0	33.0					8																	141754888		2203	4300	6503	SO:0001627	intron_variant	0			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1519-22C>-	8.37:g.141754888delG			B4E2N6|F5H4S4|Q14291|Q9UD85	RNA	DEL	-	NULL	ENST00000522684.1	37	NULL	CCDS6381.1	8																																																																																			PTK2	-	-	ENSG00000169398		0.308	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	HGNC	protein_coding	OTTHUMT00000378054.5		0.00	10	0	G	NM_005607		141754888	-1	tier1		no_errors	ENST00000518509	ensembl	human	known	74_37	rna	17.24	24	5	DEL	0.000	-
PTPRC	5788	genome.wustl.edu	37	1	198725126	198725126	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:198725126T>G	ENST00000367376.2	+	33	3902	c.3731T>G	c.(3730-3732)aTt>aGt	p.I1244S	PTPRC_ENST00000348564.6_Missense_Mutation_p.I1085S|PTPRC_ENST00000594404.1_Missense_Mutation_p.I1083S|PTPRC_ENST00000352140.3_Missense_Mutation_p.I1196S|PTPRC_ENST00000442510.2_Missense_Mutation_p.I1246S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1244					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAAGATAAAATTGAATTTGAT	0.398																																																	0													95.0	98.0	97.0					1																	198725126		2203	4300	6503	SO:0001583	missense	0			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.3731T>G	1.37:g.198725126T>G	ENSP00000356346:p.Ile1244Ser		A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.I1246S	ENST00000367376.2	37	c.3737		1	.	.	.	.	.	.	.	.	.	.	T	13.18	2.159840	0.38119	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.02812	4.15	5.7	5.7	0.88788	.	0.141474	0.32258	N	0.006341	T	0.05547	0.0146	L	0.58101	1.795	0.29677	N	0.841985	P;P;P	0.36647	0.563;0.563;0.563	B;B;B	0.35931	0.214;0.214;0.214	T	0.02307	-1.1179	10	0.87932	D	0	.	15.9668	0.79979	0.0:0.0:0.0:1.0	.	1085;1196;1244	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	S	1246;1196;1244;1083	ENSP00000193532:I1196S	ENSP00000306782:I1083S	I	+	2	0	PTPRC	196991749	1.000000	0.71417	0.016000	0.15963	0.548000	0.35241	4.755000	0.62198	2.173000	0.68751	0.455000	0.32223	ATT	PTPRC	-	pirsf_Leukocyte_common_ag	ENSG00000081237		0.398	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		-	0.00	14	0	T			198725126	+1	tier1	-	no_errors	ENST00000442510	ensembl	human	known	74_37	missense	33.33	16	8	SNP	0.545	G
PTPN14	5784	genome.wustl.edu	37	1	214557671	214557671	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:214557671T>G	ENST00000366956.5	-	13	1721	c.1527A>C	c.(1525-1527)aaA>aaC	p.K509N	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	509					lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GACTGACAAGTTTGTTGCTGT	0.582																																					Colon(92;557 1424 24372 34121 40073)												0													135.0	141.0	139.0					1																	214557671		2203	4300	6503	SO:0001583	missense	0			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.1527A>C	1.37:g.214557671T>G	ENSP00000355923:p.Lys509Asn		Q5VSI0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam	p.K509N	ENST00000366956.5	37	c.1527	CCDS1514.1	1	.	.	.	.	.	.	.	.	.	.	T	0.081	-1.183033	0.01620	.	.	ENSG00000152104	ENST00000366956	T	0.66815	-0.23	5.49	-0.619	0.11572	.	1.086930	0.06902	N	0.806162	T	0.40932	0.1137	N	0.08118	0	0.19945	N	0.999941	B	0.23735	0.09	B	0.21360	0.034	T	0.20472	-1.0274	10	0.10902	T	0.67	.	7.5386	0.27725	0.0:0.4602:0.1357:0.4042	.	509	Q15678	PTN14_HUMAN	N	509	ENSP00000355923:K509N	ENSP00000355923:K509N	K	-	3	2	PTPN14	212624294	0.050000	0.20438	0.002000	0.10522	0.015000	0.08874	-0.740000	0.04861	-0.126000	0.11682	0.528000	0.53228	AAA	PTPN14	-	pirsf_Tyr_Pase_non-rcpt_typ-14/21	ENSG00000152104		0.582	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	-	0.00	61	0	T	NM_005401		214557671	-1	tier1	-	no_errors	ENST00000366956	ensembl	human	known	74_37	missense	49.18	31	30	SNP	0.000	G
PTPRM	5797	genome.wustl.edu	37	18	8253277	8253277	+	Silent	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr18:8253277T>G	ENST00000332175.8	+	17	3617	c.2580T>G	c.(2578-2580)acT>acG	p.T860T	PTPRM_ENST00000400053.4_Silent_p.T798T|PTPRM_ENST00000444013.1_Silent_p.T647T|PTPRM_ENST00000400060.4_Silent_p.T874T|PTPRM_ENST00000580170.1_Silent_p.T873T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	860					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGTCCCATACTTACAAGAAGC	0.577																																																	0													37.0	31.0	33.0					18																	8253277		2202	4300	6502	SO:0001819	synonymous_variant	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2580T>G	18.37:g.8253277T>G			A7MBN1|D3DUH8|J3QL11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.T874	ENST00000332175.8	37	c.2622	CCDS11840.1	18																																																																																			PTPRM	-	NULL	ENSG00000173482		0.577	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	-	0.00	18	0	T			8253277	+1	tier1	-	no_errors	ENST00000400060	ensembl	human	known	74_37	silent	56.52	10	13	SNP	0.261	G
PTPRQ	374462	genome.wustl.edu	37	12	80927813	80927813	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:80927813A>C	ENST00000266688.5	+	23	2686	c.2686A>C	c.(2686-2688)Act>Cct	p.T896P	PTPRQ_ENST00000547485.1_3'UTR			Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	942					regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						ATCATTAAAAACTATTAATGT	0.284																																																	0													81.0	68.0	72.0					12																	80927813		692	1589	2281	SO:0001583	missense	0			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.2686A>C	12.37:g.80927813A>C	ENSP00000266688:p.Thr896Pro			Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,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,prints_Tyr_Pase_rcpt/non-rcpt	p.T896P	ENST00000266688.5	37	c.2686		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	7.751|7.751	0.703435|0.703435	0.15172|0.15172	.|.	.|.	ENSG00000139304|ENSG00000139304	ENST00000532722|ENST00000266688	T|T	0.57107|0.58210	0.42|0.35	4.66|4.66	0.854|0.854	0.19007|0.19007	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|.	.|.	.|.	.|.	T|T	0.34803|0.34803	0.0910|0.0910	.|.	.|.	.|.	0.24333|0.24333	N|N	0.994991|0.994991	.|P	.|0.36249	.|0.545	.|B	.|0.35413	.|0.202	T|T	0.14643|0.14643	-1.0465|-1.0465	6|8	0.20046|0.31617	T|T	0.44|0.26	.|.	5.5342|5.5342	0.17001|0.17001	0.6914:0.1465:0.1621:0.0|0.6914:0.1465:0.1621:0.0	.|.	.|942	.|Q9UMZ3	.|PTPRQ_HUMAN	N|P	596|896	ENSP00000432715:K596N|ENSP00000266688:T896P	ENSP00000432715:K596N|ENSP00000266688:T896P	K|T	+|+	3|1	2|0	PTPRQ|PTPRQ	79451944|79451944	1.000000|1.000000	0.71417|0.71417	0.711000|0.711000	0.30485|0.30485	0.666000|0.666000	0.39218|0.39218	2.268000|2.268000	0.43338|0.43338	0.243000|0.243000	0.21327|0.21327	-1.123000|-1.123000	0.02005|0.02005	AAA|ACT	PTPRQ	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000139304		0.284	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		-	0.00	17	0	A	NM_001145026		80927813	+1	tier1	-	no_errors	ENST00000266688	ensembl	human	known	74_37	missense	17.86	23	5	SNP	0.904	C
QRICH2	84074	genome.wustl.edu	37	17	74274083	74274083	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:74274083G>A	ENST00000262765.5	-	15	4785	c.4606C>T	c.(4606-4608)Ccc>Tcc	p.P1536S		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1536										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TTGTAGCAGGGGGAGCCCAGG	0.627																																																	0													52.0	55.0	54.0					17																	74274083		2203	4300	6503	SO:0001583	missense	0			AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.4606C>T	17.37:g.74274083G>A	ENSP00000262765:p.Pro1536Ser		A2RRE1|Q96LM3	Missense_Mutation	SNP	NULL	p.P1536S	ENST00000262765.5	37	c.4606	CCDS32741.1	17	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555650	0.27739	.	.	ENSG00000129646	ENST00000262765	T	0.09350	2.99	5.51	3.26	0.37387	.	.	.	.	.	T	0.15046	0.0363	L	0.46885	1.475	0.09310	N	1	P	0.46784	0.884	P	0.50270	0.636	T	0.07195	-1.0785	9	0.36615	T	0.2	-16.9763	7.8669	0.29543	0.0982:0.1687:0.7331:0.0	.	1536	Q9H0J4	QRIC2_HUMAN	S	1536	ENSP00000262765:P1536S	ENSP00000262765:P1536S	P	-	1	0	QRICH2	71785678	0.993000	0.37304	0.889000	0.34880	0.325000	0.28411	1.724000	0.38064	2.577000	0.86979	0.491000	0.48974	CCC	QRICH2	-	NULL	ENSG00000129646		0.627	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	QRICH2	HGNC	protein_coding	OTTHUMT00000395140.1	-	0.00	30	0	G	NM_032134		74274083	-1	tier1	-	no_errors	ENST00000262765	ensembl	human	known	74_37	missense	44.44	10	8	SNP	0.157	A
RANBP3L	202151	genome.wustl.edu	37	5	36271359	36271359	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:36271359A>C	ENST00000296604.3	-	2	631	c.146T>G	c.(145-147)tTt>tGt	p.F49C	RANBP3L_ENST00000502994.1_Missense_Mutation_p.F49C|RANBP3L_ENST00000515759.1_Missense_Mutation_p.F49C	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	49					intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TCTTACCTTAAAAGTTTGTTC	0.328																																																	0													57.0	62.0	60.0					5																	36271359		2202	4298	6500	SO:0001583	missense	0			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.146T>G	5.37:g.36271359A>C	ENSP00000296604:p.Phe49Cys		B7Z866|E9PGP9|Q96LK2	Missense_Mutation	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.F49C	ENST00000296604.3	37	c.146	CCDS3918.1	5	.	.	.	.	.	.	.	.	.	.	A	15.98	2.992830	0.54041	.	.	ENSG00000164188	ENST00000296604;ENST00000502994;ENST00000515759;ENST00000505865	T;T;T;T	0.51071	1.74;1.76;1.75;0.72	5.4	3.04	0.35103	.	0.441828	0.23636	N	0.046071	T	0.54481	0.1861	M	0.63843	1.955	0.29949	N	0.820433	D;D	0.71674	0.998;0.997	P;P	0.58077	0.832;0.781	T	0.53107	-0.8485	10	0.40728	T	0.16	-7.8475	6.881	0.24173	0.8166:0.0:0.1834:0.0	.	49;49	E9PGP9;Q86VV4	.;RNB3L_HUMAN	C	49	ENSP00000296604:F49C;ENSP00000421853:F49C;ENSP00000421149:F49C;ENSP00000427147:F49C	ENSP00000296604:F49C	F	-	2	0	RANBP3L	36307116	1.000000	0.71417	0.977000	0.42913	0.721000	0.41392	1.948000	0.40303	0.456000	0.26937	0.482000	0.46254	TTT	RANBP3L	-	NULL	ENSG00000164188		0.328	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RANBP3L	HGNC	protein_coding	OTTHUMT00000253773.2	-	0.00	39	0	A	NM_145000		36271359	-1	tier1	-	no_errors	ENST00000296604	ensembl	human	known	74_37	missense	33.33	28	14	SNP	0.998	C
RBBP6	5930	genome.wustl.edu	37	16	24583718	24583718	+	Missense_Mutation	SNP	G	G	T	rs148143334|rs199567078	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:24583718G>T	ENST00000319715.4	+	18	5763	c.5331G>T	c.(5329-5331)gaG>gaT	p.E1777D	RBBP6_ENST00000348022.2_Missense_Mutation_p.E1743D|RBBP6_ENST00000381039.3_Missense_Mutation_p.E937D	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1777					embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		aagataaagagaaggagaagg	0.308																																																	0													25.0	25.0	25.0					16																	24583718		1897	3615	5512	SO:0001583	missense	0				CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.5331G>T	16.37:g.24583718G>T	ENSP00000317872:p.Glu1777Asp		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC	p.E1777D	ENST00000319715.4	37	c.5331	CCDS10621.1	16	.	.	.	.	.	.	.	.	.	.	G	6.100	0.386777	0.11524	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.16196	2.36;2.65;2.62	5.44	-3.08	0.05347	.	0.213231	0.32563	N	0.005936	T	0.06371	0.0164	N	0.08118	0	0.23089	N	0.998313	B;B;B	0.10296	0.002;0.003;0.002	B;B;B	0.10450	0.005;0.005;0.002	T	0.34403	-0.9830	10	0.21540	T	0.41	-24.9249	8.5913	0.33688	0.3117:0.1452:0.5431:0.0	.	937;1743;1777	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	D	937;1777;1743	ENSP00000370427:E937D;ENSP00000317872:E1777D;ENSP00000316291:E1743D	ENSP00000317872:E1777D	E	+	3	2	RBBP6	24491219	0.009000	0.17119	0.989000	0.46669	0.991000	0.79684	-1.116000	0.03286	-0.493000	0.06678	-0.238000	0.12139	GAG	RBBP6	-	NULL	ENSG00000122257		0.308	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP6	HGNC	protein_coding	OTTHUMT00000214067.2		0.00	11	0	G	NM_006910		24583718	+1			no_errors	ENST00000319715	ensembl	human	known	74_37	missense	37.50	10	6	SNP	0.883	T
RBM4	5936	genome.wustl.edu	37	11	66411053	66411053	+	Missense_Mutation	SNP	G	G	T	rs376809532	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:66411053G>T	ENST00000409406.1	+	2	1322	c.545G>T	c.(544-546)cGc>cTc	p.R182L	RBM4_ENST00000408993.2_Missense_Mutation_p.R182L|RBM4_ENST00000398692.4_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000503028.2_Missense_Mutation_p.R182L|RBM4_ENST00000396053.4_Intron|RBM14-RBM4_ENST00000412278.2_Missense_Mutation_p.R157L|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000310092.7_Missense_Mutation_p.R182L|RBM4_ENST00000514361.3_Missense_Mutation_p.R157L			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	182					cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CGTTCAGGCCGCGTGGCAGAC	0.557																																																	0													72.0	79.0	77.0					11																	66411053		2194	4292	6486	SO:0001583	missense	0			U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.545G>T	11.37:g.66411053G>T	ENSP00000386894:p.Arg182Leu		B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom	p.R182L	ENST00000409406.1	37	c.545	CCDS41676.1	11	.	.	.	.	.	.	.	.	.	.	G	14.15	2.450404	0.43531	.	.	ENSG00000248643;ENSG00000248643;ENSG00000248643;ENSG00000173933;ENSG00000173933;ENSG00000173933	ENST00000412278;ENST00000503028;ENST00000514361;ENST00000310092;ENST00000408993;ENST00000409406	T;T;T;T;T	0.50813	0.73;1.54;1.54;1.54;1.54	6.06	6.06	0.98353	.	0.700022	0.13989	U	0.348901	T	0.41511	0.1162	L	0.44542	1.39	0.39966	D	0.974733	P;B	0.41498	0.752;0.124	B;B	0.37047	0.24;0.037	T	0.25641	-1.0126	10	0.21540	T	0.41	-3.8978	16.1209	0.81357	0.0:0.0:1.0:0.0	.	157;182	B0LM41;Q9BWF3	.;RBM4_HUMAN	L	157;182;182;182;182;182	ENSP00000388552:R157L;ENSP00000425760:R182L;ENSP00000309166:R182L;ENSP00000386561:R182L;ENSP00000386894:R182L	ENSP00000388552:R157L	R	+	2	0	RBM4;RBM14-RBM4	66167629	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.414000	0.59802	2.882000	0.98803	0.655000	0.94253	CGC	RBM4	-	NULL	ENSG00000173933		0.557	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBM4	HGNC	protein_coding	OTTHUMT00000334212.1		0.00	40	0	G	NM_002896		66411053	+1			no_errors	ENST00000310092	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T
RBM45	129831	genome.wustl.edu	37	2	178990805	178990805	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:178990805G>T	ENST00000286070.5	+	9	1419	c.1327G>T	c.(1327-1329)Gcc>Tcc	p.A443S		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	445	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TGATGCCATTGCCACTCTACA	0.408																																																	0													139.0	125.0	130.0					2																	178990805		2203	4300	6503	SO:0001583	missense	0			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1327G>T	2.37:g.178990805G>T	ENSP00000286070:p.Ala443Ser		Q6NYL0|Q8NFC9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A443S	ENST00000286070.5	37	c.1327	CCDS33335.1	2	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	7.870|7.870|7.870	0.727878|0.727878|0.727878	0.15507|0.15507|0.15507	.|.|.	.|.|.	ENSG00000155636|ENSG00000155636|ENSG00000155636	ENST00000286070|ENST00000424099|ENST00000455903	T|.|.	0.05855|.|.	3.38|.|.	5.74|5.74|5.74	-0.202|-0.202|-0.202	0.13208|0.13208|0.13208	.|.|.	0.637034|.|.	0.16755|.|.	N|.|.	0.200865|.|.	T|T|T	0.18425|0.18425|0.18425	0.0442|0.0442|0.0442	N|N|N	0.16016|0.16016|0.16016	0.355|0.355|0.355	0.22873|0.22873|0.22873	N|N|N	0.998625|0.998625|0.998625	B|.|.	0.02656|.|.	0.0|.|.	B|.|.	0.06405|.|.	0.002|.|.	T|T|T	0.27806|0.27806|0.27806	-1.0063|-1.0063|-1.0063	10|5|5	0.49607|.|.	T|.|.	0.09|.|.	-2.8441|-2.8441|-2.8441	5.1133|5.1133|5.1133	0.14821|0.14821|0.14821	0.471:0.0:0.3891:0.1399|0.471:0.0:0.3891:0.1399|0.471:0.0:0.3891:0.1399	.|.|.	443|.|.	Q8IUH3-3|.|.	.|.|.	S|F|F	443|41|103	ENSP00000286070:A443S|.|.	ENSP00000286070:A443S|.|.	A|C|L	+|+|+	1|2|3	0|0|2	RBM45|RBM45|RBM45	178699051|178699051|178699051	0.994000|0.994000|0.994000	0.37717|0.37717|0.37717	0.707000|0.707000|0.707000	0.30419|0.30419|0.30419	0.994000|0.994000|0.994000	0.84299|0.84299|0.84299	1.192000|1.192000|1.192000	0.32150|0.32150|0.32150	0.156000|0.156000|0.156000	0.19299|0.19299|0.19299	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCC|TGC|TTG	RBM45	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000155636		0.408	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM45	HGNC	protein_coding	OTTHUMT00000334375.2	-	0.00	40	0	G	NM_152945		178990805	+1	tier1	-	no_errors	ENST00000286070	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.810	T
RFFL	117584	genome.wustl.edu	37	17	33339111	33339111	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:33339111G>A	ENST00000315249.7	-	7	1190	c.968C>T	c.(967-969)cCc>cTc	p.P323L	RFFL_ENST00000394597.2_Missense_Mutation_p.P323L|RFFL_ENST00000378516.2_Missense_Mutation_p.P315L|RFFL_ENST00000447669.2_Missense_Mutation_p.P323L|RFFL_ENST00000415395.2_Missense_Mutation_p.P323L|RFFL_ENST00000584655.1_Missense_Mutation_p.P287L|RP5-837J1.2_ENST00000578488.1_RNA|RAD51L3-RFFL_ENST00000593039.1_Missense_Mutation_p.P232L|RFFL_ENST00000413582.2_Missense_Mutation_p.P315L|RFFL_ENST00000268850.7_Missense_Mutation_p.P287L					ring finger and FYVE-like domain containing E3 ubiquitin protein ligase											kidney(1)|large_intestine(2)|lung(3)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ACAGTCAATGGGTGAGTCCAT	0.512																																																	0													148.0	111.0	123.0					17																	33339111		2203	4300	6503	SO:0001583	missense	0			AF434816	CCDS11286.1	17q12	2012-02-23	2012-02-23		ENSG00000092871	ENSG00000092871		"""RING-type (C3HC4) zinc fingers"""	24821	protein-coding gene	gene with protein product		609735	"""ring finger and FYVE-like domain containing"""			15229288	Standard	NR_037713		Approved	rififylin, fring, RNF189, RNF34L	uc002hin.1	Q8WZ73	OTTHUMG00000132933	ENST00000315249.7:c.968C>T	17.37:g.33339111G>A	ENSP00000326170:p.Pro323Leu			Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING	p.P323L	ENST00000315249.7	37	c.968	CCDS11286.1	17	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953205	0.73902	.	.	ENSG00000092871	ENST00000315249;ENST00000394597;ENST00000378516;ENST00000268850	T;T;T;T	0.79653	-0.07;-0.07;-1.29;-0.07	5.65	5.65	0.86999	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	0.000000	0.85682	D	0.000000	D	0.87807	0.6270	L	0.52823	1.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.85701	0.1313	10	0.40728	T	0.16	-22.3752	18.891	0.92403	0.0:0.0:1.0:0.0	.	287;323;315	Q8WZ73-3;Q8WZ73;Q8WZ73-2	.;RFFL_HUMAN;.	L	323;323;315;287	ENSP00000326170:P323L;ENSP00000378096:P323L;ENSP00000367777:P315L;ENSP00000268850:P287L	ENSP00000268850:P287L	P	-	2	0	RFFL	30363224	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.588000	0.67517	2.941000	0.99782	0.655000	0.94253	CCC	RFFL	-	smart_Znf_RING,pfscan_Znf_RING	ENSG00000092871		0.512	RFFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFFL	HGNC	protein_coding	OTTHUMT00000256460.2		0.00	39	0	G	NM_057178		33339111	-1			no_errors	ENST00000315249	ensembl	human	known	74_37	missense	10.81	33	4	SNP	1.000	A
RGMA	56963	genome.wustl.edu	37	15	93588423	93588423	+	Silent	SNP	G	G	A	rs201262127	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr15:93588423G>A	ENST00000329082.7	-	4	1429	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	RGMA_ENST00000542321.2_Silent_p.G370G|RGMA_ENST00000543599.1_Silent_p.G370G|RGMA_ENST00000425933.2_Silent_p.G370G|RGMA_ENST00000556658.1_Silent_p.G277G|RGMA_ENST00000538818.1_Silent_p.G277G|RGMA_ENST00000557301.1_Silent_p.G394G|RGMA_ENST00000557420.1_3'UTR	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	386					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)	p.G386G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			AGTTCACGTCGCCCGTGGTGA	0.577																																																	1	Substitution - coding silent(1)	large_intestine(1)						G	,,,,,	0,4230		0,0,2115	39.0	42.0	41.0		1182,1110,1110,1110,1110,1158	-9.2	0.0	15		41	1,8473		0,1,4236	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	RGMA	NM_001166283.1,NM_001166286.1,NM_001166287.1,NM_001166288.1,NM_001166289.1,NM_020211.2	,,,,,	0,1,6351	AA,AG,GG		0.0118,0.0,0.0079	,,,,,	394/459,370/435,370/435,370/435,370/435,386/451	93588423	1,12703	2115	4237	6352	SO:0001819	synonymous_variant	0			AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.1158C>T	15.37:g.93588423G>A			B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Silent	SNP	pfam_RGM_N,pfam_RGM_C	p.G386	ENST00000329082.7	37	c.1158	CCDS45357.1	15																																																																																			RGMA	-	pfam_RGM_C	ENSG00000182175		0.577	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGMA	HGNC	protein_coding	OTTHUMT00000415091.1	-	0.00	71	0	G	NM_020211		93588423	-1	tier1	-	no_errors	ENST00000329082	ensembl	human	known	74_37	silent	68.29	13	28	SNP	0.006	A
RIMBP3	85376	genome.wustl.edu	37	22	20457383	20457383	+	Missense_Mutation	SNP	G	G	T	rs199673858	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr22:20457383G>T	ENST00000426804.1	-	1	4403	c.3919C>A	c.(3919-3921)Cct>Act	p.P1307T	SCARNA17_ENST00000516762.1_RNA|SCARNA18_ENST00000516215.1_RNA|RN7SKP131_ENST00000363006.1_RNA	NM_015672.1	NP_056487.1	Q9UFD9	RIM3A_HUMAN	RIMS binding protein 3	1307				P -> T (in Ref. 4; AAH35246). {ECO:0000305}.						breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			TTCTCCCCAGGCTGGTCACTG	0.582													g|||	482	0.096246	0.0635	0.1455	5008	,	,		12204	0.128		0.0805	False		,,,				2504	0.089																0								G	THR/PRO	79,2731		10,59,1336	26.0	28.0	28.0		3919	-6.4	0.0	22	dbSNP_134	28	171,6761		16,139,3311	no	missense	RIMBP3	NM_015672.1	38	26,198,4647	TT,TG,GG		2.4668,2.8114,2.5662	benign	1307/1640	20457383	250,9492	1405	3466	4871	SO:0001583	missense	0			AB051453	CCDS46665.1	22q11.21	2014-05-06			ENSG00000196622	ENSG00000275793			29344	protein-coding gene	gene with protein product		612699				11258795, 17855024	Standard	NM_015672		Approved	KIAA1666, RIMBP3.1, RIMBP3A	uc002zsd.4	Q9UFD9	OTTHUMG00000188355	ENST00000426804.1:c.3919C>A	22.37:g.20457383G>T	ENSP00000391564:p.Pro1307Thr		Q8IYP7|Q9BY94|Q9UFQ5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,pfscan_SH3_domain	p.P1307T	ENST00000426804.1	37	c.3919	CCDS46665.1	22	103	0.04716117216117216	10	0.02032520325203252	20	0.055248618784530384	41	0.07167832167832168	32	0.04221635883905013	G	9.207	1.029914	0.19512	0.028114	0.024668	ENSG00000196622	ENST00000355186;ENST00000426804	T	0.16597	2.33	3.38	-6.4	0.01944	.	1.053850	0.07468	N	0.901812	T	0.00496	0.0016	N	0.24115	0.695	0.09310	N	1	B	0.22003	0.063	B	0.19666	0.026	T	0.39563	-0.9608	10	0.11182	T	0.66	0.5061	1.52	0.02514	0.263:0.1812:0.4054:0.1503	.	1213	Q9UFD9	RIM3A_HUMAN	T	1213;1307	ENSP00000391564:P1307T	ENSP00000347318:P1213T	P	-	1	0	RIMBP3	18837383	0.000000	0.05858	0.003000	0.11579	0.023000	0.10783	-1.468000	0.02350	-1.021000	0.03350	0.423000	0.28283	CCT	RIMBP3	-	NULL	ENSG00000196622		0.582	RIMBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP3	HGNC	protein_coding	OTTHUMT00000318945.2	-	0.00	35	0	G	NM_015672		20457383	-1	tier1	rs199673858	no_errors	ENST00000426804	ensembl	human	known	74_37	missense	27.27	8	3	SNP	0.003	T
RIMS2	9699	genome.wustl.edu	37	8	104898169	104898169	+	Silent	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:104898169T>C	ENST00000436393.2	+	2	917	c.676T>C	c.(676-678)Ttg>Ctg	p.L226L	RIMS2_ENST00000262231.10_Silent_p.L256L|RIMS2_ENST00000406091.3_Silent_p.L448L|RIMS2_ENST00000507740.1_Silent_p.L256L			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	479					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)	p.L256L(1)|p.L226L(1)|p.L484L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGACCAGACTTGAGGCGTAC	0.463										HNSCC(12;0.0054)																																							3	Substitution - coding silent(3)	large_intestine(3)											102.0	94.0	97.0					8																	104898169		1929	4148	6077	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.676T>C	8.37:g.104898169T>C			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.L448	ENST00000436393.2	37	c.1342		8																																																																																			RIMS2	-	NULL	ENSG00000176406		0.463	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0.00	27	0	T	NM_001100117		104898169	+1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	silent	5.75	81	5	SNP	0.117	C
RIMS2	9699	genome.wustl.edu	37	8	105261742	105261742	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:105261742A>C	ENST00000436393.2	+	26	3912	c.3671A>C	c.(3670-3672)aAa>aCa	p.K1224T	RIMS2_ENST00000262231.10_Missense_Mutation_p.K1045T|RIMS2_ENST00000339750.2_Missense_Mutation_p.K142T|RIMS2_ENST00000406091.3_Missense_Mutation_p.K1206T|RIMS2_ENST00000507740.1_Missense_Mutation_p.K1020T			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1268					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ATGATGGACAAAAAGGGACAG	0.408										HNSCC(12;0.0054)																																							0													72.0	74.0	73.0					8																	105261742		1864	4086	5950	SO:0001583	missense	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.3671A>C	8.37:g.105261742A>C	ENSP00000390665:p.Lys1224Thr		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.K1206T	ENST00000436393.2	37	c.3617		8	.	.	.	.	.	.	.	.	.	.	A	23.0	4.357162	0.82243	.	.	ENSG00000176406	ENST00000329869;ENST00000406091;ENST00000402998;ENST00000262231;ENST00000507740;ENST00000408894;ENST00000436393;ENST00000523362;ENST00000339750	T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;0.95;-1.02;-1.02;-1.02	5.6	5.6	0.85130	C2 calcium/lipid-binding domain, CaLB (1);	.	.	.	.	T	0.78622	0.4312	N	0.11845	0.185	0.80722	D	1	P;D;P;D;D	0.67145	0.937;0.973;0.724;0.996;0.996	P;D;P;D;D	0.77557	0.862;0.946;0.872;0.99;0.99	T	0.82149	-0.0600	9	0.52906	T	0.07	.	15.7857	0.78300	1.0:0.0:0.0:0.0	.	1268;1224;1045;1020;1206	Q9UQ26;D6RA03;Q9UQ26-1;Q9UQ26-3;F8WD47	RIMS2_HUMAN;.;.;.;.	T	1243;1206;1268;1045;1020;1213;1224;142;142	ENSP00000384892:K1206T;ENSP00000262231:K1045T;ENSP00000423559:K1020T;ENSP00000386228:K1213T;ENSP00000390665:K1224T;ENSP00000428478:K142T;ENSP00000342051:K142T	ENSP00000262231:K1045T	K	+	2	0	RIMS2	105330918	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.369000	0.73109	2.142000	0.66516	0.528000	0.53228	AAA	RIMS2	-	superfamily_C2_dom	ENSG00000176406		0.408	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	HGNC	protein_coding	OTTHUMT00000367217.1	-	0.00	38	0	A	NM_001100117		105261742	+1	tier1	-	no_errors	ENST00000406091	ensembl	human	known	74_37	missense	30.97	78	35	SNP	1.000	C
RIN1	9610	genome.wustl.edu	37	11	66101564	66101564	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:66101564G>A	ENST00000311320.4	-	7	1543	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	RIN1_ENST00000524804.1_5'Flank|RIN1_ENST00000530056.1_Intron|RP11-867G23.12_ENST00000526655.1_RNA|RIN1_ENST00000424433.2_Missense_Mutation_p.R368W	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	473	Ras and 14-3-3 protein binding region.|VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				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						CCCTGGGCCCGGGCCAGGCGG	0.726																																																	0													5.0	6.0	5.0					11																	66101564		2042	4021	6063	SO:0001583	missense	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.1417C>T	11.37:g.66101564G>A	ENSP00000310406:p.Arg473Trp		O15010|Q00427|Q96CC8	Missense_Mutation	SNP	pfam_VPS9,pfam_Ras-assoc,smart_SH2,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.R473W	ENST00000311320.4	37	c.1417	CCDS31614.1	11	.	.	.	.	.	.	.	.	.	.	G	16.65	3.183588	0.57800	.	.	ENSG00000174791	ENST00000311320;ENST00000424433	T;T	0.33216	1.42;1.42	4.34	3.35	0.38373	Vacuolar sorting protein 9 (1);	0.163982	0.44097	D	0.000492	T	0.48466	0.1501	M	0.65975	2.015	0.33429	D	0.580903	D	0.76494	0.999	D	0.68353	0.957	T	0.62305	-0.6882	10	0.72032	D	0.01	-27.6091	10.0444	0.42177	0.0:0.0:0.7997:0.2003	.	473	Q13671	RIN1_HUMAN	W	473;368	ENSP00000310406:R473W;ENSP00000400560:R368W	ENSP00000310406:R473W	R	-	1	2	RIN1	65858140	0.839000	0.29477	1.000000	0.80357	0.507000	0.33981	0.687000	0.25407	2.141000	0.66446	0.455000	0.32223	CGG	RIN1	-	pfscan_VPS9	ENSG00000174791		0.726	RIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN1	HGNC	protein_coding	OTTHUMT00000392980.2	-	0.00	19	0	G	NM_004292		66101564	-1	tier1	-	no_errors	ENST00000311320	ensembl	human	known	74_37	missense	31.43	24	11	SNP	1.000	A
ROBO2	6092	genome.wustl.edu	37	3	77147238	77147238	+	Silent	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:77147238C>T	ENST00000461745.1	+	2	1035	c.135C>T	c.(133-135)ggC>ggT	p.G45G	ROBO2_ENST00000487694.3_Silent_p.G61G|ROBO2_ENST00000332191.8_Silent_p.G45G	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	45	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCTCTAAGGGCGAGCCCACGA	0.572																																																	0													47.0	51.0	50.0					3																	77147238		1960	4152	6112	SO:0001819	synonymous_variant	0			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.135C>T	3.37:g.77147238C>T			O43608|Q19AB4|Q19AB5	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G45	ENST00000461745.1	37	c.135	CCDS43109.1	3																																																																																			ROBO2	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000185008		0.572	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ROBO2	HGNC	protein_coding	OTTHUMT00000352600.2		0.00	13	0	C	XM_031246		77147238	+1			no_errors	ENST00000461745	ensembl	human	known	74_37	silent	42.86	8	6	SNP	0.980	T
RPS6KA1	6195	genome.wustl.edu	37	1	26899743	26899743	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:26899743A>T	ENST00000374168.2	+	21	2130	c.1976A>T	c.(1975-1977)gAt>gTt	p.D659V	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.D668V|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.D648V|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.D567V|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.D643V|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.D567V	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	659	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of hepatic stellate cell activation (GO:2000491)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CTACACGTGGATCCCCACCAG	0.632																																																	0													153.0	141.0	145.0					1																	26899743		2203	4300	6503	SO:0001583	missense	0			BC014966	CCDS284.1, CCDS30649.1	1p	2011-04-05	2002-08-29		ENSG00000117676	ENSG00000117676			10430	protein-coding gene	gene with protein product		601684	"""ribosomal protein S6 kinase, 90kD, polypeptide 1"""			8141249	Standard	NM_001006665		Approved	RSK, RSK1, HU-1	uc001bms.1	Q15418	OTTHUMG00000004003	ENST00000374168.2:c.1976A>T	1.37:g.26899743A>T	ENSP00000363283:p.Asp659Val		A6NGG4|A8K9K7|B2RDY8|B7Z5J0|Q5SVM5|Q5SVM8|Q5SVM9|Q96C05|Q9BQK2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D668V	ENST00000374168.2	37	c.2003	CCDS284.1	1	.	.	.	.	.	.	.	.	.	.	A	23.3	4.405518	0.83230	.	.	ENSG00000117676	ENST00000374168;ENST00000374166;ENST00000526792;ENST00000374162;ENST00000530003;ENST00000531382;ENST00000438977	T;T;T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65;0.65;0.65	5.7	5.7	0.88788	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	0.73102	0.3544	M	0.87971	2.92	0.80722	D	1	P;D	0.67145	0.55;0.996	B;D	0.80764	0.357;0.994	T	0.78735	-0.2088	10	0.87932	D	0	.	15.96	0.79923	1.0:0.0:0.0:0.0	.	668;659	Q15418-2;Q15418	.;KS6A1_HUMAN	V	659;648;567;567;643;668;18	ENSP00000363283:D659V;ENSP00000363281:D648V;ENSP00000431651:D567V;ENSP00000363277:D567V;ENSP00000432281:D643V;ENSP00000435412:D668V;ENSP00000403548:D18V	ENSP00000363277:D567V	D	+	2	0	RPS6KA1	26772330	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	9.339000	0.96797	2.165000	0.68154	0.460000	0.39030	GAT	RPS6KA1	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom	ENSG00000117676		0.632	RPS6KA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA1	HGNC	protein_coding	OTTHUMT00000011431.1	-	0.00	29	0	A	NM_002953		26899743	+1	tier1	-	no_errors	ENST00000531382	ensembl	human	known	74_37	missense	30.77	9	4	SNP	1.000	T
RXRG	6258	genome.wustl.edu	37	1	165386426	165386426	+	Silent	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:165386426G>A	ENST00000359842.5	-	4	776	c.474C>T	c.(472-474)ggC>ggT	p.G158G	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	158					gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	ACCCTTTGCAGCCTTCACAAC	0.443																																																	0													170.0	155.0	160.0					1																	165386426		2203	4300	6503	SO:0001819	synonymous_variant	0			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.474C>T	1.37:g.165386426G>A			A6NIP1|Q6IBU7	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,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_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF	p.G158	ENST00000359842.5	37	c.474	CCDS1248.1	1																																																																																			RXRG	-	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	ENSG00000143171		0.443	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRG	HGNC	protein_coding	OTTHUMT00000083794.2	-	0.00	86	0	G	NM_006917		165386426	-1	tier1	-	no_errors	ENST00000359842	ensembl	human	known	74_37	silent	29.41	108	45	SNP	0.992	A
SARS	6301	genome.wustl.edu	37	1	109766611	109766611	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:109766611G>T	ENST00000234677.2	+	2	223	c.148G>T	c.(148-150)Gca>Tca	p.A50S	SARS_ENST00000369923.4_Missense_Mutation_p.A50S	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	50					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TAGATTTCGGGCAGACAACTT	0.388																																																	0													176.0	183.0	180.0					1																	109766611		2203	4300	6503	SO:0001583	missense	0			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.148G>T	1.37:g.109766611G>T	ENSP00000234677:p.Ala50Ser		B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1	p.A50S	ENST00000234677.2	37	c.148	CCDS795.1	1	.	.	.	.	.	.	.	.	.	.	G	16.77	3.214640	0.58452	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.42513	0.97;0.97	5.93	5.02	0.67125	tRNA-binding arm (1);Seryl-tRNA synthetase, class IIa, N-terminal (2);	0.049942	0.85682	D	0.000000	T	0.31638	0.0803	M	0.73430	2.235	0.80722	D	1	B;B;B;B	0.22146	0.005;0.005;0.065;0.005	B;B;B;B	0.28709	0.023;0.039;0.093;0.023	T	0.19647	-1.0299	10	0.31617	T	0.26	-6.7405	14.8003	0.69909	0.0694:0.0:0.9306:0.0	.	50;50;50;50	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	S	50	ENSP00000234677:A50S;ENSP00000358939:A50S	ENSP00000234677:A50S	A	+	1	0	SARS	109568134	1.000000	0.71417	0.994000	0.49952	0.936000	0.57629	6.336000	0.72954	1.529000	0.49120	0.655000	0.94253	GCA	SARS	-	pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1	ENSG00000031698		0.388	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	HGNC	protein_coding	OTTHUMT00000032394.2	-	0.00	46	0	G	NM_006513		109766611	+1	tier1	-	no_errors	ENST00000369923	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
RYR2	6262	genome.wustl.edu	37	1	237948142	237948142	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:237948142C>T	ENST00000366574.2	+	90	13447	c.13130C>T	c.(13129-13131)tCg>tTg	p.S4377L	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.S4361L|RYR2_ENST00000360064.6_Missense_Mutation_p.S4383L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4377					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACCTTCTTTCGGACATCTTT	0.537																																																	0													47.0	45.0	46.0					1																	237948142		1936	4137	6073	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13130C>T	1.37:g.237948142C>T	ENSP00000355533:p.Ser4377Leu		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.S4383L	ENST00000366574.2	37	c.13148	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163653	0.38217	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.93659	-3.26;-3.26;-3.26	5.56	5.56	0.83823	Ryanodine Receptor TM 4-6 (1);	0.218534	0.30043	N	0.010554	D	0.92766	0.7700	L	0.27053	0.805	0.80722	D	1	D;P	0.64830	0.994;0.898	P;B	0.57679	0.825;0.207	D	0.90205	0.4260	10	0.16896	T	0.51	-8.2172	19.5263	0.95208	0.0:1.0:0.0:0.0	.	1351;4377	B4DGV4;Q92736	.;RYR2_HUMAN	L	4377;4383;4361;1351	ENSP00000355533:S4377L;ENSP00000353174:S4383L;ENSP00000443798:S4361L	ENSP00000353174:S4383L	S	+	2	0	RYR2	236014765	1.000000	0.71417	0.322000	0.25334	0.126000	0.20510	7.625000	0.83145	2.613000	0.88420	0.655000	0.94253	TCG	RYR2	-	pfam_Ryanrecept_TM4-6	ENSG00000198626		0.537	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	-	0.00	21	0	C	NM_001035		237948142	+1	tier1	-	no_errors	ENST00000360064	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.984	T
SCARF1	8578	genome.wustl.edu	37	17	1548969	1548969	+	Missense_Mutation	SNP	G	G	A	rs200018599		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:1548969G>A	ENST00000263071.4	-	1	72	c.23C>T	c.(22-24)cCg>cTg	p.P8L	SCARF1_ENST00000348987.3_Missense_Mutation_p.P8L|SCARF1_ENST00000574545.1_5'Flank|SCARF1_ENST00000571272.1_Missense_Mutation_p.P8L	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	8					cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGCAGCAGCGGGAGCAGCAG	0.692																																																	0													14.0	18.0	17.0					17																	1548969		2186	4287	6473	SO:0001583	missense	0			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555	ENST00000263071.4:c.23C>T	17.37:g.1548969G>A	ENSP00000263071:p.Pro8Leu		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom	p.P8L	ENST00000263071.4	37	c.23	CCDS11007.1	17	.	.	.	.	.	.	.	.	.	.	G	11.62	1.694363	0.30052	.	.	ENSG00000074660	ENST00000263071;ENST00000348987;ENST00000434376	T;T;T	0.20598	2.06;2.78;2.74	4.51	-1.45	0.08828	.	0.445686	0.16553	N	0.209381	T	0.14399	0.0348	L	0.40543	1.245	0.09310	N	1	B;B;B	0.20459	0.045;0.027;0.045	B;B;B	0.10450	0.005;0.002;0.005	T	0.22556	-1.0213	10	0.31617	T	0.26	2.8982	9.419	0.38539	0.4024:0.0:0.5976:0.0	.	8;8;8	Q14162-2;Q14162;Q14162-3	.;SREC_HUMAN;.	L	8	ENSP00000263071:P8L;ENSP00000323964:P8L;ENSP00000411167:P8L	ENSP00000263071:P8L	P	-	2	0	SCARF1	1495719	0.000000	0.05858	0.068000	0.19968	0.383000	0.30230	0.303000	0.19210	-0.133000	0.11537	0.467000	0.42956	CCG	SCARF1	-	NULL	ENSG00000074660		0.692	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCARF1	HGNC	protein_coding	OTTHUMT00000207081.4	-	0.00	22	0	G	NM_003693		1548969	-1	tier1	rs200018599	no_errors	ENST00000263071	ensembl	human	known	74_37	missense	95.83	1	23	SNP	0.028	A
SCN1A	6323	genome.wustl.edu	37	2	166848866	166848866	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:166848866A>G	ENST00000303395.4	-	26	4918	c.4919T>C	c.(4918-4920)cTt>cCt	p.L1640P	AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L1629P|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.L1640P|SCN1A_ENST00000409050.1_Missense_Mutation_p.L1612P			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1640					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATCCTAGCAAGACGGATCAC	0.463																																																	0													122.0	118.0	119.0					2																	166848866		2203	4300	6503	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.4919T>C	2.37:g.166848866A>G	ENSP00000303540:p.Leu1640Pro		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.L1640P	ENST00000303395.4	37	c.4919	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	A	21.7	4.194901	0.78902	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98862	-5.19;-5.19;-5.19;-5.19	5.27	5.27	0.74061	.	0.000000	0.52532	D	0.000075	D	0.99417	0.9794	H	0.95884	3.735	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98402	1.0568	10	0.87932	D	0	.	15.2026	0.73153	1.0:0.0:0.0:0.0	.	1629	P35498-2	.	P	1640;1640;1629;1612	ENSP00000407030:L1640P;ENSP00000303540:L1640P;ENSP00000364554:L1629P;ENSP00000386312:L1612P	ENSP00000303540:L1640P	L	-	2	0	SCN1A	166557112	1.000000	0.71417	0.867000	0.34043	0.997000	0.91878	9.122000	0.94380	1.979000	0.57680	0.528000	0.53228	CTT	SCN1A	-	pfam_Ion_trans_dom	ENSG00000144285		0.463	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	-	0.00	74	0	A	NM_006920		166848866	-1	tier1	-	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	20.83	95	25	SNP	0.998	G
SCN1A	6323	genome.wustl.edu	37	2	166897743	166897743	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:166897743A>C	ENST00000303395.4	-	13	2412	c.2413T>G	c.(2413-2415)Ttg>Gtg	p.L805V	AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L794V|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000423058.2_Missense_Mutation_p.L805V|SCN1A_ENST00000409050.1_Missense_Mutation_p.L777V			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	805					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGCTTACCAAGTTTCCTACT	0.368																																																	0													71.0	64.0	67.0					2																	166897743		2203	4300	6503	SO:0001583	missense	0			AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.2413T>G	2.37:g.166897743A>C	ENSP00000303540:p.Leu805Val		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2	p.L805V	ENST00000303395.4	37	c.2413	CCDS54413.1	2	.	.	.	.	.	.	.	.	.	.	A	16.35	3.097447	0.56075	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.98493	-4.96;-4.96;-4.96;-4.96	5.54	4.39	0.52855	Ion transport (1);	0.000000	0.52532	D	0.000071	D	0.95875	0.8657	L	0.39245	1.2	0.42561	D	0.993149	B;B;B	0.27450	0.015;0.019;0.179	B;B;B	0.33960	0.015;0.026;0.173	D	0.93490	0.6835	10	0.59425	D	0.04	.	7.7696	0.28999	0.7929:0.0:0.2071:0.0	.	794;777;805	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	V	805;805;794;777	ENSP00000407030:L805V;ENSP00000303540:L805V;ENSP00000364554:L794V;ENSP00000386312:L777V	ENSP00000303540:L805V	L	-	1	2	SCN1A	166605989	0.804000	0.28969	1.000000	0.80357	0.974000	0.67602	0.431000	0.21444	1.040000	0.40099	0.482000	0.46254	TTG	SCN1A	-	pfam_Ion_trans_dom	ENSG00000144285		0.368	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN1A	HGNC	protein_coding	OTTHUMT00000102661.1	-	0.00	37	0	A	NM_006920		166897743	-1	tier1	-	no_errors	ENST00000303395	ensembl	human	known	74_37	missense	26.09	34	12	SNP	0.992	C
SCN9A	6335	genome.wustl.edu	37	2	167134735	167134735	+	Missense_Mutation	SNP	A	A	C	rs182018126		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:167134735A>C	ENST00000409435.1	-	14	2431	c.2432T>G	c.(2431-2433)tTt>tGt	p.F811C	SCN9A_ENST00000375387.4_Missense_Mutation_p.F812C|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.F812C|SCN9A_ENST00000409672.1_Missense_Mutation_p.F800C			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	811					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AAGGCTGTCAAAAATATTCCA	0.373																																																	0													74.0	71.0	72.0					2																	167134735		1897	4163	6060	SO:0001583	missense	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2432T>G	2.37:g.167134735A>C	ENSP00000386330:p.Phe811Cys		A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.F812C	ENST00000409435.1	37	c.2435	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	A	23.2	4.383054	0.82792	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000007	D	0.99521	0.9829	H	0.98818	4.34	0.80722	D	1	D	0.76494	0.999	D	0.77004	0.989	D	0.97825	1.0259	10	0.87932	D	0	.	15.0761	0.72077	1.0:0.0:0.0:0.0	.	800	E7EUN6	.	C	800;812;812;811	ENSP00000386306:F800C;ENSP00000364536:F812C;ENSP00000304748:F812C;ENSP00000386330:F811C	ENSP00000304748:F812C	F	-	2	0	SCN9A	166842981	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.088000	0.63022	0.533000	0.62120	TTT	SCN9A	-	pfam_Ion_trans_dom	ENSG00000169432		0.373	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	-	0.00	34	0	A	NM_002977		167134735	-1	tier1	-	no_errors	ENST00000303354	ensembl	human	known	74_37	missense	56.86	22	29	SNP	1.000	C
SCN7A	6332	genome.wustl.edu	37	2	167334095	167334095	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:167334095A>C	ENST00000409855.1	-	2	238	c.112T>G	c.(112-114)Tta>Gta	p.L38V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	38					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	GTTGGCTTTAAGTCTTCTTCT	0.398																																																	0													69.0	63.0	65.0					2																	167334095		1829	4079	5908	SO:0001583	missense	0			M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.112T>G	2.37:g.167334095A>C	ENSP00000386796:p.Leu38Val			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.L38V	ENST00000409855.1	37	c.112	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	A	12.28	1.891896	0.33442	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98090	-4.08;-4.1;-4.71	4.63	3.5	0.40072	.	0.210744	0.24580	N	0.037312	D	0.97297	0.9116	M	0.80183	2.485	0.30074	N	0.8098	D	0.60575	0.988	P	0.54759	0.76	D	0.94248	0.7491	10	0.41790	T	0.15	.	4.1352	0.10167	0.7403:0.0:0.2597:0.0	.	38	Q01118	SCN7A_HUMAN	V	38	ENSP00000386796:L38V;ENSP00000413699:L38V;ENSP00000403846:L38V	ENSP00000259060:L38V	L	-	1	2	SCN7A	167042341	0.537000	0.26386	0.989000	0.46669	0.823000	0.46562	1.556000	0.36288	2.067000	0.61834	0.533000	0.62120	TTA	SCN7A	-	NULL	ENSG00000136546		0.398	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1	-	0.00	42	0	A			167334095	-1	tier1	-	no_errors	ENST00000409855	ensembl	human	known	74_37	missense	20.34	46	12	SNP	0.994	C
SEC24B	10427	genome.wustl.edu	37	4	110433175	110433175	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:110433175delC	ENST00000265175.5	+	9	1894	c.1839delC	c.(1837-1839)aacfs	p.N613fs	SEC24B_ENST00000504968.2_Frame_Shift_Del_p.N643fs|SEC24B_ENST00000399100.2_Frame_Shift_Del_p.N578fs	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	613	Zinc finger-like.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CGTATATTAACCCCTTTGTAT	0.353																																																	0													152.0	142.0	145.0					4																	110433175		1868	4103	5971	SO:0001589	frameshift_variant	0			AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1839delC	4.37:g.110433175delC	ENSP00000265175:p.Asn613fs		B7ZKM8|B7ZKN4|Q0VG08	Frame_Shift_Del	DEL	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.F615fs	ENST00000265175.5	37	c.1839	CCDS47124.1	4																																																																																			SEC24B	-	pfam_Znf_Sec23_Sec24,superfamily_Znf_Sec23_Sec24	ENSG00000138802		0.353	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SEC24B	HGNC	protein_coding	OTTHUMT00000364693.2		0.00	98	0	C			110433175	+1	tier1		no_errors	ENST00000265175	ensembl	human	known	74_37	frame_shift_del	38.52	75	47	DEL	1.000	-
SETDB2	83852	genome.wustl.edu	37	13	50050931	50050931	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:50050931A>G	ENST00000317257.8	+	7	1486	c.661A>G	c.(661-663)Aac>Gac	p.N221D	SETDB2_ENST00000354234.4_Missense_Mutation_p.N209D|SETDB2_ENST00000258672.5_Missense_Mutation_p.N209D	NM_031915.2	NP_114121.2	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	221	MBD. {ECO:0000255|PROSITE- ProRule:PRU00338}.				chromosome segregation (GO:0007059)|heart looping (GO:0001947)|histone H3-K9 methylation (GO:0051567)|left/right axis specification (GO:0070986)|mitotic nuclear division (GO:0007067)|negative regulation of transcription, DNA-templated (GO:0045892)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		ATTTACAGATAACTTTTCTTT	0.398																																																	0													109.0	111.0	111.0					13																	50050931		2203	4300	6503	SO:0001583	missense	0			AF334407	CCDS9417.1, CCDS53868.1	13q14	2011-07-01	2003-05-06	2003-05-09	ENSG00000136169	ENSG00000136169		"""Chromatin-modifying enzymes / K-methyltransferases"""	20263	protein-coding gene	gene with protein product		607865	"""chromosome 13 open reading frame 4"""	C13orf4		11306461	Standard	NM_031915		Approved	CLLD8, CLLL8, KMT1F	uc001vda.3	Q96T68	OTTHUMG00000016918	ENST00000317257.8:c.661A>G	13.37:g.50050931A>G	ENSP00000326477:p.Asn221Asp		Q5TC65|Q5TC66|Q5W0A7|Q659A7|Q86UD6|Q96AI6	Missense_Mutation	SNP	pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom	p.N221D	ENST00000317257.8	37	c.661	CCDS9417.1	13	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679197	0.68042	.	.	ENSG00000136169	ENST00000354234;ENST00000317257;ENST00000258672	D;D;D	0.99353	-5.77;-5.77;-5.77	5.96	3.37	0.38596	Methyl-CpG DNA binding (3);DNA-binding, integrase-type (1);	0.290817	0.44483	D	0.000450	D	0.98858	0.9614	L	0.59436	1.845	0.36160	D	0.848054	P;D;D	0.67145	0.493;0.996;0.996	B;P;D	0.63192	0.167;0.857;0.912	D	0.99806	1.1038	10	0.27082	T	0.32	.	13.6307	0.62193	0.7929:0.2071:0.0:0.0	.	221;209;221	Q96T68-3;Q96T68-2;Q96T68	.;.;SETB2_HUMAN	D	209;221;209	ENSP00000346175:N209D;ENSP00000326477:N221D;ENSP00000258672:N209D	ENSP00000258672:N209D	N	+	1	0	SETDB2	48948932	1.000000	0.71417	0.998000	0.56505	0.913000	0.54294	1.494000	0.35616	2.285000	0.76669	0.533000	0.62120	AAC	SETDB2	-	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	ENSG00000136169		0.398	SETDB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB2	HGNC	protein_coding	OTTHUMT00000044925.1	-	0.00	40	0	A	NM_031915		50050931	+1	tier1	-	no_errors	ENST00000317257	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.997	G
SHANK2	22941	genome.wustl.edu	37	11	70331764	70331764	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:70331764delG	ENST00000423696.2	-	15	3533	c.3497delC	c.(3496-3498)ccafs	p.P1166fs	SHANK2_ENST00000338508.4_Frame_Shift_Del_p.P1546fs|SHANK2_ENST00000449833.2_Frame_Shift_Del_p.P950fs|SHANK2_ENST00000409161.1_Frame_Shift_Del_p.P949fs			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1166					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGAGGTACTGGGGGTTTGTC	0.478																																																	0													143.0	136.0	138.0					11																	70331764		2200	4294	6494	SO:0001589	frameshift_variant	0			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3497delC	11.37:g.70331764delG	ENSP00000394536:p.Pro1166fs		C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Frame_Shift_Del	DEL	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.P1546fs	ENST00000423696.2	37	c.4637		11																																																																																			SHANK2	-	NULL	ENSG00000162105		0.478	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding			0.00	29	0	G	NM_012309		70331764	-1	tier1		no_errors	ENST00000338508	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	0.976	-
SHROOM2	357	genome.wustl.edu	37	X	9900467	9900467	+	Silent	SNP	G	G	T	rs137947571		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:9900467G>T	ENST00000380913.3	+	6	3234	c.3144G>T	c.(3142-3144)tcG>tcT	p.S1048S	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1048					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GACAAGACTCGTGGCCAGTGA	0.647																																																	0													20.0	17.0	18.0					X																	9900467		2190	4294	6484	SO:0001819	synonymous_variant	0			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.3144G>T	X.37:g.9900467G>T			B9EIQ7	Silent	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S1048	ENST00000380913.3	37	c.3144	CCDS14135.1	X																																																																																			SHROOM2	-	NULL	ENSG00000146950		0.647	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1		0.00	23	0	G	NM_001649		9900467	+1			no_errors	ENST00000380913	ensembl	human	known	74_37	silent	20.59	27	7	SNP	0.000	T
SIM1	6492	genome.wustl.edu	37	6	100841712	100841712	+	Silent	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:100841712G>A	ENST00000369208.3	-	11	2003	c.1221C>T	c.(1219-1221)ggC>ggT	p.G407G	SIM1_ENST00000262901.4_Silent_p.G407G			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	407	Single-minded C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00632}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.G407G(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGGGACTTCCGCCCCACTGGC	0.547																																																	1	Substitution - coding silent(1)	large_intestine(1)											38.0	37.0	37.0					6																	100841712		2203	4299	6502	SO:0001819	synonymous_variant	0			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.1221C>T	6.37:g.100841712G>A			Q5TDP7	Silent	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom	p.G407	ENST00000369208.3	37	c.1221	CCDS5045.1	6																																																																																			SIM1	-	pfam_SIM_C	ENSG00000112246		0.547	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3		0.00	31	0	G	NM_005068		100841712	-1			no_errors	ENST00000262901	ensembl	human	known	74_37	silent	17.14	29	6	SNP	0.018	A
SLC12A4	6560	genome.wustl.edu	37	16	67984933	67984933	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:67984933T>G	ENST00000316341.3	-	10	1468	c.1328A>C	c.(1327-1329)gAc>gCc	p.D443A	SLC12A4_ENST00000537830.2_Missense_Mutation_p.D437A|SLC12A4_ENST00000572010.1_5'Flank|SLC12A4_ENST00000422611.2_Missense_Mutation_p.D445A|SLC12A4_ENST00000338335.3_Missense_Mutation_p.D443A|SLC12A4_ENST00000576616.1_Missense_Mutation_p.D443A|SLC12A4_ENST00000541864.2_Missense_Mutation_p.D412A|SLC12A4_ENST00000572037.1_Missense_Mutation_p.D395A	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	443					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GTCACGAAGGTCCCCAGAGCG	0.612																																																	0													65.0	69.0	68.0					16																	67984933		2198	4300	6498	SO:0001583	missense	0				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.1328A>C	16.37:g.67984933T>G	ENSP00000318557:p.Asp443Ala		B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.D445A	ENST00000316341.3	37	c.1334	CCDS10855.1	16	.	.	.	.	.	.	.	.	.	.	T	23.4	4.409325	0.83340	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98958	-5.27;-5.27;-5.27;-5.27;-5.27	5.11	5.11	0.69529	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99190	0.9719	M	0.93507	3.425	0.80722	D	1	P;P;D;P;P;P	0.54047	0.659;0.92;0.964;0.791;0.791;0.631	P;P;P;B;B;P	0.58577	0.607;0.831;0.841;0.444;0.444;0.461	D	0.99081	1.0837	10	0.87932	D	0	.	15.1969	0.73100	0.0:0.0:0.0:1.0	.	445;443;412;437;443;443	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	A	445;412;437;443;443	ENSP00000395983:D445A;ENSP00000438334:D412A;ENSP00000445962:D437A;ENSP00000343374:D443A;ENSP00000318557:D443A	ENSP00000318557:D443A	D	-	2	0	SLC12A4	66542434	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	7.997000	0.88414	2.055000	0.61198	0.459000	0.35465	GAC	SLC12A4	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000124067		0.612	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	HGNC	protein_coding	OTTHUMT00000268864.4	-	0.00	30	0	T	NM_005072		67984933	-1	tier1	-	no_errors	ENST00000422611	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	G
SLC5A10	125206	genome.wustl.edu	37	17	18922878	18922878	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:18922878G>A	ENST00000395645.3	+	12	1402	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I	SLC5A10_ENST00000395643.2_Missense_Mutation_p.V435I|SLC5A10_ENST00000395647.2_Missense_Mutation_p.V478I|SLC5A10_ENST00000417251.2_Missense_Mutation_p.V426I|SLC5A10_ENST00000395642.1_Missense_Mutation_p.V432I|SLC5A10_ENST00000317977.6_Missense_Mutation_p.V432I	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	462					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TGTCCTGGGCGTCTTCTGGCG	0.637																																																	0													69.0	61.0	64.0					17																	18922878		2203	4300	6503	SO:0001583	missense	0				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1384G>A	17.37:g.18922878G>A	ENSP00000379007:p.Val462Ile		A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.V478I	ENST00000395645.3	37	c.1432	CCDS42275.1	17	.	.	.	.	.	.	.	.	.	.	G	0.941	-0.709631	0.03230	.	.	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000417251;ENST00000395645;ENST00000395643	D;D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.09;-2.19;-2.19	4.49	0.944	0.19537	Sodium/solute symporter, conserved site (1);	0.231384	0.43579	N	0.000551	T	0.59905	0.2228	N	0.01454	-0.855	0.31052	N	0.715133	B;B;B;B;B	0.09022	0.001;0.0;0.001;0.001;0.002	B;B;B;B;B	0.12156	0.007;0.003;0.007;0.002;0.005	T	0.57493	-0.7802	10	0.02654	T	1	.	7.4201	0.27067	0.6057:0.0:0.3942:0.0	.	426;435;462;478;432	B4DPI0;A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;.;SC5AA_HUMAN;.;.	I	432;478;432;426;462;435	ENSP00000324346:V432I;ENSP00000379008:V478I;ENSP00000379004:V432I;ENSP00000401875:V426I;ENSP00000379007:V462I;ENSP00000379005:V435I	ENSP00000324346:V432I	V	+	1	0	SLC5A10	18863603	0.322000	0.24634	1.000000	0.80357	0.531000	0.34715	0.814000	0.27239	0.213000	0.20722	-0.340000	0.08031	GTC	SLC5A10	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000154025		0.637	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A10	HGNC	protein_coding	OTTHUMT00000132129.2	-	0.00	24	0	G	NM_152351		18922878	+1	tier1	-	no_errors	ENST00000395647	ensembl	human	known	74_37	missense	71.43	14	35	SNP	0.975	A
SLC38A10	124565	genome.wustl.edu	37	17	79256060	79256060	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:79256060G>A	ENST00000374759.3	-	5	813	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	SLC38A10_ENST00000288439.5_Missense_Mutation_p.R144W|SLC38A10_ENST00000546352.1_5'Flank	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	144					amino acid transport (GO:0006865)|bone development (GO:0060348)|sodium ion transport (GO:0006814)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ATCATGTTCCGCTGCAGGCTG	0.662																																																	0													98.0	76.0	83.0					17																	79256060		2203	4300	6503	SO:0001583	missense	0			BC014642	CCDS11780.1, CCDS42397.1	17q25.3	2013-05-22			ENSG00000157637	ENSG00000157637		"""Solute carriers"""	28237	protein-coding gene	gene with protein product							Standard	XM_005257019		Approved	MGC15523, PP1744	uc002jzz.1	Q9HBR0	OTTHUMG00000168049	ENST00000374759.3:c.430C>T	17.37:g.79256060G>A	ENSP00000363891:p.Arg144Trp		Q6ZRC5|Q8NA99|Q96C66	Missense_Mutation	SNP	pfam_AA_transpt_TM	p.R144W	ENST00000374759.3	37	c.430	CCDS42397.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.2|21.2	4.111672|4.111672	0.77210|0.77210	.|.	.|.	ENSG00000157637|ENSG00000157637	ENST00000543204|ENST00000374759;ENST00000288439;ENST00000539748	.|T;T;T	.|0.02763	.|4.17;4.17;4.17	5.19|5.19	1.57|1.57	0.23409|0.23409	.|.	.|0.147539	.|0.56097	.|D	.|0.000037	T|T	0.14270|0.14270	0.0345|0.0345	M|M	0.81112|0.81112	2.525|2.525	0.53688|0.53688	D|D	0.99997|0.99997	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.74674	.|0.969;0.984	T|T	0.00208|0.00208	-1.1918|-1.1918	5|10	.|0.87932	.|D	.|0	-28.5398|-28.5398	14.2141|14.2141	0.65781|0.65781	0.0:0.0:0.5912:0.4088|0.0:0.0:0.5912:0.4088	.|.	.|144;144	.|Q9HBR0-2;Q9HBR0	.|.;S38AA_HUMAN	V|W	2|144;144;96	.|ENSP00000363891:R144W;ENSP00000288439:R144W;ENSP00000439115:R96W	.|ENSP00000288439:R144W	A|R	-|-	2|1	0|2	SLC38A10|SLC38A10	76870655|76870655	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.990000|0.990000	0.78478|0.78478	2.376000|2.376000	0.44292|0.44292	-0.019000|-0.019000	0.14055|0.14055	-0.262000|-0.262000	0.10625|0.10625	GCG|CGG	SLC38A10	-	pfam_AA_transpt_TM	ENSG00000157637		0.662	SLC38A10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC38A10	HGNC	protein_coding	OTTHUMT00000397747.1	-	0.00	62	0	G	NM_138570		79256060	-1	tier1	-	no_errors	ENST00000374759	ensembl	human	known	74_37	missense	18.64	48	11	SNP	1.000	A
SLC5A4	6527	genome.wustl.edu	37	22	32621756	32621756	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr22:32621756T>G	ENST00000266086.4	-	12	1346	c.1335A>C	c.(1333-1335)caA>caC	p.Q445H	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	445					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTTGAGAAACTTGTACCAGTG	0.363																																																	0													90.0	88.0	89.0					22																	32621756		2203	4300	6503	SO:0001583	missense	0			U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1335A>C	22.37:g.32621756T>G	ENSP00000266086:p.Gln445His		O15279	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.Q445H	ENST00000266086.4	37	c.1335	CCDS13903.1	22	.	.	.	.	.	.	.	.	.	.	T	15.98	2.993212	0.54041	.	.	ENSG00000100191	ENST00000266086	D	0.88664	-2.41	5.05	-0.824	0.10812	.	0.250496	0.43260	D	0.000597	D	0.92564	0.7638	M	0.85542	2.76	0.23293	N	0.997964	P	0.48911	0.917	P	0.62014	0.897	D	0.86071	0.1538	10	0.87932	D	0	.	8.9023	0.35501	0.0:0.5552:0.0:0.4448	.	445	Q9NY91	SC5A4_HUMAN	H	445	ENSP00000266086:Q445H	ENSP00000266086:Q445H	Q	-	3	2	SLC5A4	30951756	0.605000	0.26941	0.000000	0.03702	0.006000	0.05464	1.253000	0.32886	0.028000	0.15324	-0.472000	0.04984	CAA	SLC5A4	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000100191		0.363	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A4	HGNC	protein_coding	OTTHUMT00000315724.1	-	0.00	60	0	T	NM_014227		32621756	-1	tier1	-	no_errors	ENST00000266086	ensembl	human	known	74_37	missense	42.62	35	26	SNP	0.113	G
SLC6A16	28968	genome.wustl.edu	37	19	49793843	49793843	+	Intron	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:49793843G>T	ENST00000335875.4	-	11	2183				SLC6A16_ENST00000454748.3_Missense_Mutation_p.P654T	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16						neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		AGGGGTTCTGGGTCCTGGGGG	0.507																																																	0													29.0	28.0	28.0					19																	49793843		1876	4104	5980	SO:0001627	intron_variant	0			AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.1941+18C>A	19.37:g.49793843G>T			Q8IYV4|Q9Y5I9	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.P654T	ENST00000335875.4	37	c.1960	CCDS42590.1	19	.	.	.	.	.	.	.	.	.	.	G	2.914	-0.224597	0.06061	.	.	ENSG00000063127	ENST00000454748	T	0.72835	-0.69	3.89	1.22	0.21188	.	.	.	.	.	T	0.46908	0.1417	.	.	.	0.09310	N	1	B	0.19331	0.035	B	0.12156	0.007	T	0.24905	-1.0147	8	0.13470	T	0.59	.	4.9544	0.14031	0.4203:0.0:0.5797:0.0	.	654	Q8IYV4	.	T	654	ENSP00000404022:P654T	ENSP00000404022:P654T	P	-	1	0	SLC6A16	54485655	0.011000	0.17503	0.001000	0.08648	0.067000	0.16453	0.206000	0.17375	0.330000	0.23485	0.543000	0.68304	CCA	SLC6A16	-	pfscan_Na/ntran_symport	ENSG00000063127		0.507	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A16	HGNC	protein_coding	OTTHUMT00000465503.2	-	0.00	33	0	G	NM_014037		49793843	-1	tier1	-	no_errors	ENST00000454748	ensembl	human	putative	74_37	missense	39.13	28	18	SNP	0.000	T
SLC8A1	6546	genome.wustl.edu	37	2	40656664	40656664	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:40656664C>A	ENST00000403092.1	-	2	790	c.757G>T	c.(757-759)Gat>Tat	p.D253Y	SLC8A1_ENST00000332839.4_Missense_Mutation_p.D253Y|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D253Y|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D253Y|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D253Y|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D253Y|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D253Y|SLC8A1_ENST00000406785.2_Missense_Mutation_p.D253Y|SLC8A1_ENST00000542024.1_Missense_Mutation_p.D253Y|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D253Y			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	253					blood coagulation (GO:0007596)|calcium ion export (GO:1901660)|calcium ion homeostasis (GO:0055074)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|cardiac muscle cell development (GO:0055013)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to caffeine (GO:0071313)|cellular response to reactive oxygen species (GO:0034614)|cellular sodium ion homeostasis (GO:0006883)|cytosolic calcium ion transport (GO:0060401)|embryonic heart tube development (GO:0035050)|embryonic placenta development (GO:0001892)|heart morphogenesis (GO:0003007)|ion transport (GO:0006811)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|muscle contraction (GO:0006936)|muscle fiber development (GO:0048747)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|post-embryonic development (GO:0009791)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|relaxation of cardiac muscle (GO:0055119)|relaxation of smooth muscle (GO:0044557)|sodium ion export (GO:0071436)|sodium ion import (GO:0097369)|transmembrane transport (GO:0055085)|vascular smooth muscle contraction (GO:0014829)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|calcium:sodium antiporter activity (GO:0005432)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)	p.D253N(1)		NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTCTCCTATCCGCTACCCAA	0.443																																																	1	Substitution - Missense(1)	lung(1)											93.0	94.0	94.0					2																	40656664		2203	4300	6503	SO:0001583	missense	0				CCDS1806.1, CCDS46264.1, CCDS46265.1, CCDS59430.1	2p22.1	2013-07-15			ENSG00000183023	ENSG00000183023		"""Solute carriers"""	11068	protein-coding gene	gene with protein product	"""Na+/Ca++ exchanger"""	182305		NCX1		1559714	Standard	NM_021097		Approved		uc002rrx.3	P32418	OTTHUMG00000102183	ENST00000403092.1:c.757G>T	2.37:g.40656664C>A	ENSP00000384763:p.Asp253Tyr		A8K6N1|D6W595|O95849|Q4QQG6|Q587I6|Q59GN4|Q9UBL8|Q9UD55|Q9UDN1|Q9UDN2|Q9UKX6	Missense_Mutation	SNP	pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex	p.D253Y	ENST00000403092.1	37	c.757	CCDS1806.1	2	.	.	.	.	.	.	.	.	.	.	C	14.33	2.503183	0.44558	.	.	ENSG00000183023	ENST00000406785;ENST00000378715;ENST00000542756;ENST00000403092;ENST00000405901;ENST00000402441;ENST00000405269;ENST00000332839;ENST00000408028;ENST00000535962;ENST00000406391;ENST00000542024	T;T;T;T;T;T;T;T;T;T	0.52295	0.82;0.72;0.82;0.72;0.82;0.82;0.82;0.67;0.82;0.82	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.75708	0.3886	M	0.90542	3.125	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.79885	-0.1614	10	0.87932	D	0	.	17.9158	0.88950	0.0:1.0:0.0:0.0	.	253;253;253;253;253	P32418-4;P32418-2;P32418-3;F6VPY9;P32418	.;.;.;.;NAC1_HUMAN	Y	253	ENSP00000383886:D253Y;ENSP00000440727:D253Y;ENSP00000384763:D253Y;ENSP00000385678:D253Y;ENSP00000385188:D253Y;ENSP00000385535:D253Y;ENSP00000332931:D253Y;ENSP00000384908:D253Y;ENSP00000385811:D253Y;ENSP00000443515:D253Y	ENSP00000332931:D253Y	D	-	1	0	SLC8A1	40510168	1.000000	0.71417	0.998000	0.56505	0.258000	0.26162	7.663000	0.83820	2.832000	0.97577	0.655000	0.94253	GAT	SLC8A1	-	tigrfam_Na_Ca_Ex	ENSG00000183023		0.443	SLC8A1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A1	HGNC	protein_coding	OTTHUMT00000326065.1		0.00	12	0	C	NM_021097		40656664	-1			no_errors	ENST00000332839	ensembl	human	known	74_37	missense	8.82	31	3	SNP	1.000	A
SLCO1B7	338821	genome.wustl.edu	37	12	21207483	21207483	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:21207483G>T	ENST00000421593.2	+	10	1454	c.1454G>T	c.(1453-1455)aGg>aTg	p.R485M	LST3_ENST00000381541.3_Missense_Mutation_p.R532M|RP11-125O5.2_ENST00000590779.1_5'Flank|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.R532M|LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000553473.1_Intron	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	485						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.R485M(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GCTTGTACAAGGAAATCTTAC	0.393																																																	1	Substitution - Missense(1)	lung(1)											106.0	115.0	112.0					12																	21207483		2193	4299	6492	SO:0001583	missense	0			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1454G>T	12.37:g.21207483G>T	ENSP00000394168:p.Arg485Met		Q71QF0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.R532M	ENST00000421593.2	37	c.1595	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	5.884	0.347203	0.11126	.	.	ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000381541;ENST00000554957;ENST00000421593	T;T;T	0.39787	1.06;1.06;1.06	2.95	-5.91	0.02269	.	0.985258	0.08326	N	0.963040	T	0.34745	0.0908	L	0.56769	1.78	0.09310	N	1	B;B	0.23735	0.09;0.09	B;B	0.31869	0.085;0.137	T	0.43426	-0.9392	10	0.59425	D	0.04	.	3.5194	0.07736	0.6254:0.1247:0.1314:0.1184	.	485;532	G3V0H7;F5H094	.;.	M	532;532;485	ENSP00000370952:R532M;ENSP00000452013:R532M;ENSP00000394168:R485M	ENSP00000370952:R532M	R	+	2	0	SLCO1B7;RP11-545J16.1	21098750	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-1.452000	0.02385	-2.161000	0.00785	-0.351000	0.07748	AGG	SLCO1B7	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	ENSG00000205754		0.393	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B7	HGNC	protein_coding	OTTHUMT00000402066.1	-	0.00	79	0	G	NM_001009562		21207483	+1	tier1	-	no_errors	ENST00000554957	ensembl	human	known	74_37	missense	41.38	34	24	SNP	0.000	T
SLCO1B7	338821	genome.wustl.edu	37	12	21243002	21243002	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:21243002G>A	ENST00000421593.2	+	13	1885	c.1885G>A	c.(1885-1887)Gac>Aac	p.D629N	LST3_ENST00000381541.3_Missense_Mutation_p.D676N|RP11-125O5.2_ENST00000590779.1_Intron|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.D676N|LST3_ENST00000540229.1_Missense_Mutation_p.D737N|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.D737N	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	629						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.D629N(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ATTCTTAAACGACAGTGAACA	0.303																																																	2	Substitution - Missense(2)	lung(1)|endometrium(1)											42.0	44.0	44.0					12																	21243002		2082	4250	6332	SO:0001583	missense	0			AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1885G>A	12.37:g.21243002G>A	ENSP00000394168:p.Asp629Asn		Q71QF0	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.D737N	ENST00000421593.2	37	c.2209	CCDS44843.1	12	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.887545	0.00527	.	.	ENSG00000111700;ENSG00000257046;ENSG00000257046;ENSG00000205754;ENSG00000205754	ENST00000553473;ENST00000381541;ENST00000540229;ENST00000554957;ENST00000421593	T;T;T;T;T	0.36340	1.4;1.31;1.4;1.31;1.26	2.46	1.24	0.21308	.	2.386710	0.01432	N	0.014789	T	0.16811	0.0404	N	0.08118	0	0.09310	N	1	B;B;B	0.10296	0.002;0.003;0.0	B;B;B	0.09377	0.001;0.004;0.0	T	0.24905	-1.0147	10	0.02654	T	1	.	4.2689	0.10776	0.8294:0.0:0.1706:0.0	.	629;676;737	G3V0H7;F5H094;Q5JAR4	.;.;.	N	737;676;737;676;629	ENSP00000451758:D737N;ENSP00000370952:D676N;ENSP00000441269:D737N;ENSP00000452013:D676N;ENSP00000394168:D629N	ENSP00000370952:D676N	D	+	1	0	SLCO1B3;SLCO1B7;RP11-545J16.1	21134269	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.758000	0.26447	0.366000	0.24427	-0.431000	0.05894	GAC	SLCO1B3	-	NULL	ENSG00000111700		0.303	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	SLCO1B3	HGNC	protein_coding	OTTHUMT00000402066.1	-	0.00	40	0	G	NM_001009562		21243002	+1	tier1	-	no_errors	ENST00000553473	ensembl	human	known	74_37	missense	42.31	15	11	SNP	0.002	A
SLITRK5	26050	genome.wustl.edu	37	13	88328683	88328683	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:88328683G>A	ENST00000325089.6	+	2	1259	c.1040G>A	c.(1039-1041)cGg>cAg	p.R347Q	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R106Q	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	347					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|cardiovascular system development (GO:0072358)|dendrite morphogenesis (GO:0048813)|grooming behavior (GO:0007625)|response to xenobiotic stimulus (GO:0009410)|skin development (GO:0043588)|striatum development (GO:0021756)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCCACCTCTCGGCAGCCCTCT	0.592																																																	0													60.0	62.0	61.0					13																	88328683		2203	4299	6502	SO:0001583	missense	0			AB020725	CCDS9465.1	13q31.1	2004-04-16	2004-01-08		ENSG00000165300	ENSG00000165300			20295	protein-coding gene	gene with protein product		609680	"""leucine rich repeat containing 11"""	LRRC11		10048485, 14557068	Standard	NM_015567		Approved	bA364G4.2, KIAA0918	uc001vln.3	O94991	OTTHUMG00000017167	ENST00000325089.6:c.1040G>A	13.37:g.88328683G>A	ENSP00000366283:p.Arg347Gln		B3KNB8|B4DSH5|Q5VT81	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R347Q	ENST00000325089.6	37	c.1040	CCDS9465.1	13	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303711	0.40795	.	.	ENSG00000165300	ENST00000325089;ENST00000400028	T;T	0.59906	0.23;0.55	5.85	5.85	0.93711	.	0.060206	0.64402	D	0.000005	T	0.49321	0.1550	L	0.59436	1.845	0.41113	D	0.985756	P;B	0.48294	0.908;0.425	B;B	0.37091	0.241;0.154	T	0.53507	-0.8429	9	.	.	.	-15.249	11.0032	0.47618	0.0838:0.0:0.9162:0.0	.	106;347	B4DSH5;O94991	.;SLIK5_HUMAN	Q	347;106	ENSP00000366283:R347Q;ENSP00000442244:R106Q	.	R	+	2	0	SLITRK5	87126684	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.473000	0.73572	2.771000	0.95319	0.561000	0.74099	CGG	SLITRK5	-	NULL	ENSG00000165300		0.592	SLITRK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK5	HGNC	protein_coding	OTTHUMT00000045416.3	-	0.00	18	0	G			88328683	+1	tier1	-	no_errors	ENST00000325089	ensembl	human	known	74_37	missense	33.33	14	7	SNP	1.000	A
SLK	9748	genome.wustl.edu	37	10	105727547	105727549	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:105727547_105727549delAGA	ENST00000369755.3	+	1	589_591	c.44_46delAGA	c.(43-48)gagaag>gag	p.K19del	SLK_ENST00000335753.4_In_Frame_Del_p.K19del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	19	Poly-Lys.				apoptotic process (GO:0006915)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TTGGGGAGCGAGAAGAAGAAGAA	0.448																																					NSCLC(111;540 1651 1927 4474 17706)												0																																										SO:0001651	inframe_deletion	0				CCDS7553.1	10q25.1	2010-06-25	2010-06-25		ENSG00000065613	ENSG00000065613			11088	protein-coding gene	gene with protein product			"""SNF1 (sucrose nonfermenting, yeast, homolog)-like kinase, SNF1 sucrose nonfermenting like kinase (yeast)"", ""STE20-like kinase (yeast)"""			3526554	Standard	NM_014720		Approved	STK2, se20-9, KIAA0204	uc001kxo.1	Q9H2G2	OTTHUMG00000018999	ENST00000369755.3:c.44_46delAGA	10.37:g.105727556_105727558delAGA	ENSP00000358770:p.Lys19del		D3DRA0|D3DRA1|O00211|Q6P1Z4|Q86WU7|Q86WW1|Q92603|Q9NQL0|Q9NQL1	In_Frame_Del	DEL	pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_dom	p.K19in_frame_del	ENST00000369755.3	37	c.44_46	CCDS7553.1	10																																																																																			SLK	-	superfamily_Kinase-like_dom	ENSG00000065613		0.448	SLK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLK	HGNC	protein_coding	OTTHUMT00000050188.1		0.00	41	0	AGA	NM_014720		105727549	+1	tier1		no_errors	ENST00000369755	ensembl	human	known	74_37	in_frame_del	12.50	42	6	DEL	1.000:0.998:1.000	-
SNCAIP	9627	genome.wustl.edu	37	5	121761185	121761185	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:121761185C>T	ENST00000261368.8	+	5	1403	c.1141C>T	c.(1141-1143)Cgc>Tgc	p.R381C	SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000261367.7_Missense_Mutation_p.R428C|SNCAIP_ENST00000504884.2_3'UTR|SNCAIP_ENST00000379536.2_Intron|SNCAIP_ENST00000542191.1_Intron|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R428C|SNCAIP_ENST00000503116.2_Missense_Mutation_p.R428C	NM_005460.2	NP_005451.2	Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	381					cell death (GO:0008219)|dopamine metabolic process (GO:0042417)|regulation of inclusion body assembly (GO:0090083)|regulation of neurotransmitter secretion (GO:0046928)	cytoplasm (GO:0005737)|neuronal cell body (GO:0043025)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	identical protein binding (GO:0042802)|ubiquitin protein ligase binding (GO:0031625)			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CCTCAATGAGCGCAACACTGA	0.483																																																	0													84.0	83.0	83.0					5																	121761185		2203	4300	6503	SO:0001583	missense	0			AF167306	CCDS4131.1, CCDS58964.1	5q23.2	2013-01-10	2008-07-31		ENSG00000064692	ENSG00000064692		"""Ankyrin repeat domain containing"""	11139	protein-coding gene	gene with protein product	"""synphilin"""	603779				10319874	Standard	NM_001242935		Approved	SYPH1	uc003ksw.1	Q9Y6H5	OTTHUMG00000128915	ENST00000261368.8:c.1141C>T	5.37:g.121761185C>T	ENSP00000261368:p.Arg381Cys		D3DSZ1|Q05BS1|Q1PSC2|Q49AC6|Q504U9|Q6L984|Q6L985|Q6L986|Q9HC59	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R428C	ENST00000261368.8	37	c.1282	CCDS4131.1	5	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428841	0.62844	.	.	ENSG00000064692	ENST00000261368;ENST00000379533;ENST00000261367;ENST00000503116	T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28	5.67	4.72	0.59763	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.79149	0.4397	L	0.56396	1.775	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.994;0.999;0.999	T	0.80567	-0.1325	10	0.66056	D	0.02	-15.7083	16.5882	0.84745	0.2089:0.7911:0.0:0.0	.	9;428;428;381	Q9NVG1;Q9Y6H5-6;Q9Y6H5-3;Q9Y6H5	.;.;.;SNCAP_HUMAN	C	381;428;428;428	ENSP00000261368:R381C;ENSP00000368848:R428C;ENSP00000261367:R428C;ENSP00000423199:R428C	ENSP00000261367:R428C	R	+	1	0	SNCAIP	121789084	1.000000	0.71417	0.992000	0.48379	0.669000	0.39330	1.655000	0.37345	2.677000	0.91161	0.655000	0.94253	CGC	SNCAIP	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000064692		0.483	SNCAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCAIP	HGNC	protein_coding	OTTHUMT00000250888.1	-	0.00	21	0	C			121761185	+1	tier1	-	no_errors	ENST00000379533	ensembl	human	known	74_37	missense	41.67	7	5	SNP	0.999	T
SNED1	25992	genome.wustl.edu	37	2	242004959	242004959	+	Silent	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:242004959C>T	ENST00000310397.8	+	21	2958	c.2958C>T	c.(2956-2958)aaC>aaT	p.N986N	SNED1_ENST00000401884.1_Silent_p.N986N|SNED1_ENST00000342631.6_Silent_p.N986N|SNED1_ENST00000405547.3_Silent_p.N986N|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	986	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TGAAGCGAAACAGTAACAACA	0.657																																																	0													25.0	32.0	30.0					2																	242004959		2064	4186	6250	SO:0001819	synonymous_variant	0			AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.2958C>T	2.37:g.242004959C>T			B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Silent	SNP	pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP	p.N986	ENST00000310397.8	37	c.2958	CCDS46562.1	2																																																																																			SNED1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000162804		0.657	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNED1	HGNC	protein_coding	OTTHUMT00000323935.2		0.00	60	0	C	XM_059482		242004959	+1			no_errors	ENST00000310397	ensembl	human	known	74_37	silent	5.26	72	4	SNP	0.084	T
FAM69B	138311	genome.wustl.edu	37	9	139616243	139616244	+	Intron	DEL	TG	TG	-			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	TG	TG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr9:139616243_139616244delTG	ENST00000371692.4	+	3	294				SNHG7_ENST00000414282.1_RNA|SNHG7_ENST00000436596.1_RNA|FAM69B_ENST00000371691.1_5'UTR|SNHG7_ENST00000416970.1_RNA	NM_152421.3	NP_689634.2	Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		CGGCACTGCCTGTGTGAGGGGC	0.718																																																	0																																										SO:0001627	intron_variant	0				CCDS7004.1	9q34.3	2012-08-03			ENSG00000165716	ENSG00000165716			28290	protein-coding gene	gene with protein product		614543				21334309	Standard	NM_152421		Approved	MGC20262, C9orf136	uc004cik.3	Q5VUD6	OTTHUMG00000020940	ENST00000371692.4:c.199-129TG>-	9.37:g.139616247_139616248delTG			Q5VUD7|Q8N5N0|Q8WYU5	RNA	DEL	-	NULL	ENST00000371692.4	37	NULL	CCDS7004.1	9																																																																																			SNHG7	-	-	ENSG00000233016		0.718	FAM69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNHG7	HGNC	protein_coding	OTTHUMT00000055102.1		0.00	39	0	TG	NM_152421		139616244	-1	tier1		no_errors	ENST00000414282	ensembl	human	known	74_37	rna	63.04	17	29	DEL	0.024:0.099	-
SNX10	29887	genome.wustl.edu	37	7	26400643	26400643	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:26400643T>G	ENST00000338523.4	+	3	260	c.73T>G	c.(73-75)Ttc>Gtc	p.F25V	SNX10_ENST00000396376.1_Missense_Mutation_p.F25V|SNX10_ENST00000446848.2_Missense_Mutation_p.F51V|SNX10_ENST00000409367.1_5'UTR	NM_001199835.1|NM_013322.2	NP_001186764.1|NP_037454.2	Q9Y5X0	SNX10_HUMAN	sorting nexin 10	25	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.|Required for the interaction with ATP6V1D.				cilium assembly (GO:0042384)|endosome organization (GO:0007032)|intracellular protein transport (GO:0006886)|osteoclast differentiation (GO:0030316)|protein localization to centrosome (GO:0071539)|protein localization to cilium (GO:0061512)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extrinsic component of endosome membrane (GO:0031313)|nucleus (GO:0005634)	1-phosphatidylinositol binding (GO:0005545)|ATPase binding (GO:0051117)			endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	6						GAAGGAGGACTTCTGGCATTC	0.358																																																	0													157.0	147.0	150.0					7																	26400643		2203	4300	6503	SO:0001583	missense	0			AF121860	CCDS5399.1, CCDS56470.1	7p15.2	2008-05-22			ENSG00000086300	ENSG00000086300		"""Sorting nexins"""	14974	protein-coding gene	gene with protein product		614780				17012226	Standard	NM_013322		Approved		uc010kuu.3	Q9Y5X0	OTTHUMG00000023650	ENST00000338523.4:c.73T>G	7.37:g.26400643T>G	ENSP00000343709:p.Phe25Val		E9PFH5|Q8IYT5	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.F51V	ENST00000338523.4	37	c.151	CCDS5399.1	7	.	.	.	.	.	.	.	.	.	.	T	14.17	2.454226	0.43634	.	.	ENSG00000086300	ENST00000416246;ENST00000338523;ENST00000412416;ENST00000446848;ENST00000396376	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	4.93	4.93	0.64822	Phox homologous domain (5);	0.055188	0.64402	D	0.000001	T	0.40171	0.1106	M	0.73962	2.25	0.43814	D	0.996372	P;P	0.43826	0.818;0.611	B;B	0.36959	0.237;0.171	T	0.36890	-0.9729	10	0.17369	T	0.5	.	13.4701	0.61278	0.0:0.0:0.0:1.0	.	51;25	B4DJM0;Q9Y5X0	.;SNX10_HUMAN	V	51;25;51;51;25	ENSP00000408164:F51V;ENSP00000343709:F25V;ENSP00000395474:F51V;ENSP00000379661:F25V	ENSP00000343709:F25V	F	+	1	0	SNX10	26367168	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.166000	0.64965	1.989000	0.58080	0.528000	0.53228	TTC	SNX10	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	ENSG00000086300		0.358	SNX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX10	HGNC	protein_coding	OTTHUMT00000214120.1	-	0.00	57	0	T			26400643	+1	tier1	-	no_errors	ENST00000446848	ensembl	human	known	74_37	missense	22.22	34	10	SNP	1.000	G
SPAG16	79582	genome.wustl.edu	37	2	215013957	215013957	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr2:215013957A>C	ENST00000331683.5	+	15	1782	c.1687A>C	c.(1687-1689)Agt>Cgt	p.S563R	SPAG16_ENST00000374309.3_Missense_Mutation_p.S469R	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	563					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		TATAGGTCCAAGTCCTGGCAA	0.393																																																	0													170.0	167.0	168.0					2																	215013957		2203	4300	6503	SO:0001583	missense	0			AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.1687A>C	2.37:g.215013957A>C	ENSP00000332592:p.Ser563Arg		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S563R	ENST00000331683.5	37	c.1687	CCDS2396.1	2	.	.	.	.	.	.	.	.	.	.	A	17.41	3.382024	0.61845	.	.	ENSG00000144451	ENST00000331683;ENST00000374309;ENST00000451561	D;D;D	0.81996	-1.56;-1.56;-1.55	5.73	5.73	0.89815	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.489582	0.22772	N	0.055830	D	0.87517	0.6197	L	0.59436	1.845	0.31309	N	0.687311	D;D;B;D	0.89917	0.999;1.0;0.122;0.999	D;D;B;D	0.77004	0.941;0.989;0.029;0.941	D	0.84765	0.0764	10	0.23302	T	0.38	.	10.7828	0.46388	0.7353:0.2647:0.0:0.0	.	469;414;503;563	B4DYB5;Q8N0X2-2;Q4G1A2;Q8N0X2	.;.;.;SPG16_HUMAN	R	563;469;187	ENSP00000332592:S563R;ENSP00000363428:S469R;ENSP00000416600:S187R	ENSP00000332592:S563R	S	+	1	0	SPAG16	214722202	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.953000	0.56699	2.308000	0.77769	0.533000	0.62120	AGT	SPAG16	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000144451		0.393	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG16	HGNC	protein_coding	OTTHUMT00000256601.2	-	0.00	70	0	A	NM_024532		215013957	+1	tier1	-	no_errors	ENST00000331683	ensembl	human	known	74_37	missense	26.96	84	31	SNP	1.000	C
SPANXN1	494118	genome.wustl.edu	37	X	144337250	144337250	+	Silent	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:144337250G>A	ENST00000370493.3	+	2	894	c.135G>A	c.(133-135)acG>acA	p.T45T		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	45										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGAAAACGTCAGAATATT	0.408																																																	0													155.0	138.0	144.0					X																	144337250		2203	4297	6500	SO:0001819	synonymous_variant	0				CCDS35421.1	Xq27.3	2009-03-25				ENSG00000203923			33174	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 6"""	300664				14973187, 17012309	Standard	NM_001009614		Approved	SPANX-N1, CT11.6	uc004fcb.2	Q5VSR9		ENST00000370493.3:c.135G>A	X.37:g.144337250G>A				Silent	SNP	pfam_SPANX_prot	p.T45	ENST00000370493.3	37	c.135	CCDS35421.1	X																																																																																			SPANXN1	-	pfam_SPANX_prot	ENSG00000203923		0.408	SPANXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN1	HGNC	protein_coding	OTTHUMT00000058631.2	-	0.00	56	0	G	NM_001009614		144337250	+1	tier1	-	no_errors	ENST00000370493	ensembl	human	known	74_37	silent	65.09	37	69	SNP	0.000	A
SPATA13	221178	genome.wustl.edu	37	13	24863303	24863303	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:24863303G>T	ENST00000382095.4	+	7	1366	c.959G>T	c.(958-960)tGc>tTc	p.C320F	SPATA13_ENST00000382108.3_Missense_Mutation_p.C945F|SPATA13_ENST00000424834.2_Missense_Mutation_p.C945F|SPATA13_ENST00000343003.6_Missense_Mutation_p.C264F|SPATA13_ENST00000409126.1_Missense_Mutation_p.C180F|SPATA13_ENST00000399949.2_Missense_Mutation_p.C242F|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.C823F	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13	320	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		ATAGGATCTTGCTTTCTTCAA	0.338																																																	0													78.0	67.0	70.0					13																	24863303		2203	4300	6503	SO:0001583	missense	0			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.959G>T	13.37:g.24863303G>T	ENSP00000371527:p.Cys320Phe		A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.C945F	ENST00000382095.4	37	c.2834	CCDS9305.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.56|19.56	3.849781|3.849781	0.71603|0.71603	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000382108;ENST00000382095;ENST00000434675;ENST00000438694;ENST00000399949;ENST00000409126;ENST00000343003|ENST00000424834	T;T;T;T;T;T|.	0.63744|.	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06|.	5.24|5.24	5.24|5.24	0.73138|0.73138	Dbl homology (DH) domain (5);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86167|0.86167	0.5868|0.5868	M|M	0.92555|0.92555	3.32|3.32	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D|.	0.97110|.	1.0;0.998;1.0;0.999;0.998;0.999|.	D|D	0.89642|0.89642	0.3863|0.3863	10|5	0.54805|.	T|.	0.06|.	.|.	17.8062|17.8062	0.88601|0.88601	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	180;264;204;266;242;320|.	E9PFR9;Q96N96-3;Q96N96-5;Q96N96-4;Q96N96-2;Q96N96|.	.;.;.;.;.;SPT13_HUMAN|.	F|F	945;320;218;266;242;180;264|982	ENSP00000371542:C945F;ENSP00000371527:C320F;ENSP00000401605:C218F;ENSP00000382830:C242F;ENSP00000386471:C180F;ENSP00000343631:C264F|.	ENSP00000343631:C264F|.	C|L	+|+	2|3	0|2	SPATA13|SPATA13	23761303|23761303	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.845000|0.845000	0.48019|0.48019	9.471000|9.471000	0.97696|0.97696	2.435000|2.435000	0.82474|0.82474	0.462000|0.462000	0.41574|0.41574	TGC|TTG	SPATA13	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000182957		0.338	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	-	0.00	42	0	G	NM_153023		24863303	+1	tier1	-	no_errors	ENST00000382108	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
SPATA31A6	389730	genome.wustl.edu	37	9	43625621	43625621	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr9:43625621T>G	ENST00000332857.6	-	4	3094	c.3066A>C	c.(3064-3066)caA>caC	p.Q1022H	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1022					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CGGCACAAACTTGAGGCTGGG	0.517																																																	0													1.0	1.0	1.0					9																	43625621		8	44	52	SO:0001583	missense	0				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3066A>C	9.37:g.43625621T>G	ENSP00000329825:p.Gln1022His			Missense_Mutation	SNP	NULL	p.Q1022H	ENST00000332857.6	37	c.3066	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	T	12.68	2.011892	0.35511	.	.	ENSG00000185775	ENST00000332857	T	0.09445	2.98	2.44	1.28	0.21552	.	.	.	.	.	T	0.24586	0.0596	M	0.69358	2.11	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.07309	-1.0779	9	0.72032	D	0.01	.	4.2403	0.10645	0.0:0.1718:0.0:0.8282	.	1022	Q5VVP1	F75A6_HUMAN	H	1022	ENSP00000329825:Q1022H	ENSP00000329825:Q1022H	Q	-	3	2	FAM75A6	43565617	0.067000	0.21026	0.025000	0.17156	0.032000	0.12392	-0.063000	0.11655	0.381000	0.24851	0.315000	0.21342	CAA	SPATA31A6	-	NULL	ENSG00000185775		0.517	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	HGNC	protein_coding	OTTHUMT00000036987.1	-	0.00	46	0	T	NM_001145196		43625621	-1	tier1	-	no_errors	ENST00000332857	ensembl	human	known	74_37	missense	20.00	55	14	SNP	0.033	G
SPG20	23111	genome.wustl.edu	37	13	36909527	36909527	+	Silent	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:36909527A>G	ENST00000451493.1	-	2	658	c.441T>C	c.(439-441)acT>acC	p.T147T	SPG20_ENST00000355182.4_Silent_p.T147T|SPG20_ENST00000438666.2_Silent_p.T147T|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Silent_p.T147T	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	147					abscission (GO:0009838)|adipose tissue development (GO:0060612)|cell death (GO:0008219)|cell division (GO:0051301)|lipid particle organization (GO:0034389)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of collateral sprouting in absence of injury (GO:0048698)|neuromuscular process (GO:0050905)|regulation of mitochondrial membrane potential (GO:0051881)	cytoplasm (GO:0005737)|lipid particle (GO:0005811)|midbody (GO:0030496)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTGCACTTGGAGTTGAGGTGT	0.463																																																	0													53.0	56.0	55.0					13																	36909527		2203	4300	6503	SO:0001819	synonymous_variant	0			AB011182	CCDS9356.1	13q13.1	2008-07-04	2007-04-23		ENSG00000133104	ENSG00000133104			18514	protein-coding gene	gene with protein product	"""spartin"""	607111				6022528, 12134148	Standard	NM_001142294		Approved	KIAA0610, TAHCCP1	uc001uvm.3	Q8N0X7	OTTHUMG00000016730	ENST00000451493.1:c.441T>C	13.37:g.36909527A>G			O60349|Q86Y67|Q9H1T2|Q9H1T3	Silent	SNP	pfam_Senescence/spartin,pfam_MIT,smart_MIT	p.T147	ENST00000451493.1	37	c.441	CCDS9356.1	13																																																																																			SPG20	-	NULL	ENSG00000133104		0.463	SPG20-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG20	HGNC	protein_coding	OTTHUMT00000044494.2	-	0.00	34	0	A			36909527	-1	tier1	-	no_errors	ENST00000355182	ensembl	human	known	74_37	silent	27.27	32	12	SNP	0.000	G
SPTLC3	55304	genome.wustl.edu	37	20	13055028	13055028	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:13055028A>C	ENST00000399002.2	+	4	764	c.490A>C	c.(490-492)Aac>Cac	p.N164H	SPTLC3_ENST00000378194.4_Missense_Mutation_p.N164H	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	164					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						AGATGTCATCAACATGGGCTC	0.448																																																	0													102.0	102.0	102.0					20																	13055028		2015	4227	6242	SO:0001583	missense	0			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.490A>C	20.37:g.13055028A>C	ENSP00000381968:p.Asn164His		A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	p.N164H	ENST00000399002.2	37	c.490	CCDS13115.2	20	.	.	.	.	.	.	.	.	.	.	A	23.0	4.362809	0.82353	.	.	ENSG00000172296	ENST00000399002;ENST00000378194;ENST00000450297	D;D;D	0.95756	-3.8;-3.8;-3.8	6.17	5.06	0.68205	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.041962	0.85682	D	0.000000	D	0.98232	0.9415	H	0.94582	3.555	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98552	1.0637	10	0.87932	D	0	-30.9784	12.7907	0.57533	0.8771:0.0:0.0:0.1229	.	164	Q9NUV7	SPTC3_HUMAN	H	164;164;137	ENSP00000381968:N164H;ENSP00000367436:N164H;ENSP00000409125:N137H	ENSP00000367436:N164H	N	+	1	0	SPTLC3	13003028	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.339000	0.96797	1.119000	0.41883	0.533000	0.62120	AAC	SPTLC3	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase	ENSG00000172296		0.448	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC3	HGNC	protein_coding	OTTHUMT00000254544.1	-	0.00	116	0	A	NM_018327		13055028	+1	tier1	-	no_errors	ENST00000399002	ensembl	human	known	74_37	missense	10.21	211	24	SNP	1.000	C
SPTLC3	55304	genome.wustl.edu	37	20	13098334	13098334	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:13098334A>G	ENST00000399002.2	+	8	1388	c.1114A>G	c.(1114-1116)Agt>Ggt	p.S372G	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	372					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						ATTCACCAAAAGTTTTGGAGC	0.542																																																	0													74.0	76.0	75.0					20																	13098334		1903	4121	6024	SO:0001583	missense	0			AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1114A>G	20.37:g.13098334A>G	ENSP00000381968:p.Ser372Gly		A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	p.S372G	ENST00000399002.2	37	c.1114	CCDS13115.2	20	.	.	.	.	.	.	.	.	.	.	A	26.6	4.753488	0.89753	.	.	ENSG00000172296	ENST00000399002	D	0.91577	-2.87	6.04	6.04	0.98038	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.95306	0.8477	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95660	0.8714	10	0.87932	D	0	-28.3063	16.5885	0.84745	1.0:0.0:0.0:0.0	.	372	Q9NUV7	SPTC3_HUMAN	G	372	ENSP00000381968:S372G	ENSP00000381968:S372G	S	+	1	0	SPTLC3	13046334	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	9.339000	0.96797	2.317000	0.78254	0.460000	0.39030	AGT	SPTLC3	-	pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase	ENSG00000172296		0.542	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC3	HGNC	protein_coding	OTTHUMT00000254544.1	-	0.00	30	0	A	NM_018327		13098334	+1	tier1	-	no_errors	ENST00000399002	ensembl	human	known	74_37	missense	22.64	41	12	SNP	1.000	G
SRRM2	23524	genome.wustl.edu	37	16	2815963	2815963	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:2815963C>T	ENST00000301740.8	+	11	5983	c.5434C>T	c.(5434-5436)Cgg>Tgg	p.R1812W		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1812	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCGGGTTACTCGGCGGCGGAG	0.612																																																	0													36.0	44.0	41.0					16																	2815963		2198	4300	6498	SO:0001583	missense	0			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.5434C>T	16.37:g.2815963C>T	ENSP00000301740:p.Arg1812Trp		A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.R1812W	ENST00000301740.8	37	c.5434	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	6.729	0.503337	0.12822	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933	T	0.39056	1.1	5.46	4.5	0.54988	.	0.000000	0.64402	D	0.000014	T	0.28167	0.0695	N	0.08118	0	0.32291	N	0.566309	D	0.65815	0.995	P	0.46339	0.513	T	0.40961	-0.9535	10	0.66056	D	0.02	-3.004	11.7039	0.51587	0.1764:0.8236:0.0:0.0	.	1812	Q9UQ35	SRRM2_HUMAN	W	1812;1812;1064	ENSP00000301740:R1812W	ENSP00000301740:R1812W	R	+	1	2	SRRM2	2755964	0.997000	0.39634	0.972000	0.41901	0.531000	0.34715	1.594000	0.36697	1.282000	0.44496	0.650000	0.86243	CGG	SRRM2	-	NULL	ENSG00000167978		0.612	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	-	0.00	37	0	C			2815963	+1	tier1	-	no_errors	ENST00000301740	ensembl	human	known	74_37	missense	8.00	46	4	SNP	0.991	T
ST8SIA4	7903	genome.wustl.edu	37	5	100191934	100191934	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr5:100191934delA	ENST00000231461.5	-	4	980	c.670delT	c.(670-672)tggfs	p.W224fs		NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	224					axon guidance (GO:0007411)|cellular protein modification process (GO:0006464)|ganglioside biosynthetic process (GO:0001574)|N-glycan processing (GO:0006491)|nervous system development (GO:0007399)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GCAGGAATCCAAAGGACACTG	0.423																																																	0													196.0	176.0	183.0					5																	100191934		2203	4300	6503	SO:0001589	frameshift_variant	0			L41680	CCDS4091.1, CCDS47252.1	5q21	2013-03-01	2003-01-14	2005-02-07	ENSG00000113532	ENSG00000113532		"""Sialyltransferases"""	10871	protein-coding gene	gene with protein product	"""ST8Sia IV"""	602547	"""sialyltransferase 8 (alpha-2, 8-polysialytransferase) D"""	SIAT8D		7624364	Standard	NM_005668		Approved	PST, PST1	uc003knk.3	Q92187	OTTHUMG00000128727	ENST00000231461.5:c.670delT	5.37:g.100191934delA	ENSP00000231461:p.Trp224fs		A8KA07|G3V104|Q8N1F4|Q92693	Frame_Shift_Del	DEL	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.W224fs	ENST00000231461.5	37	c.670	CCDS4091.1	5																																																																																			ST8SIA4	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000113532		0.423	ST8SIA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST8SIA4	HGNC	protein_coding	OTTHUMT00000250632.3		0.00	58	0	A	NM_005668		100191934	-1	tier1		no_errors	ENST00000231461	ensembl	human	known	74_37	frame_shift_del	33.33	34	17	DEL	1.000	-
STON2	85439	genome.wustl.edu	37	14	81743371	81743371	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr14:81743371T>G	ENST00000267540.2	-	4	2484	c.2284A>C	c.(2284-2286)Agt>Cgt	p.S762R	STON2_ENST00000556280.1_5'Flank|STON2_ENST00000555447.1_Missense_Mutation_p.S762R	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	762	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GAGCCAAAACTTGCCCCCCGG	0.517																																																	0													100.0	106.0	104.0					14																	81743371		2203	4300	6503	SO:0001583	missense	0			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.2284A>C	14.37:g.81743371T>G	ENSP00000267540:p.Ser762Arg		G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.S762R	ENST00000267540.2	37	c.2284	CCDS9875.1	14	.	.	.	.	.	.	.	.	.	.	T	15.64	2.892143	0.52014	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.12774	2.65;2.65	5.92	5.92	0.95590	Clathrin adaptor, mu subunit, C-terminal (3);	0.049293	0.85682	D	0.000000	T	0.23965	0.0580	L	0.35414	1.06	0.51767	D	0.999935	D;D	0.62365	0.991;0.989	P;P	0.62740	0.906;0.847	T	0.02844	-1.1103	10	0.19590	T	0.45	-16.2109	16.3648	0.83312	0.0:0.0:0.0:1.0	.	762;762	Q8WXE9;G3V2T7	STON2_HUMAN;.	R	762;774;762	ENSP00000450857:S762R;ENSP00000267540:S762R	ENSP00000267540:S762R	S	-	1	0	STON2	80813124	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	6.330000	0.72925	2.263000	0.75096	0.533000	0.62120	AGT	STON2	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C	ENSG00000140022		0.517	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1	-	0.00	58	0	T	NM_033104		81743371	-1	tier1	-	no_errors	ENST00000267540	ensembl	human	known	74_37	missense	28.00	36	14	SNP	1.000	G
STPG1	90529	genome.wustl.edu	37	1	24687446	24687446	+	Missense_Mutation	SNP	C	C	T	rs528552913		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:24687446C>T	ENST00000374409.1	-	8	1077	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	STPG1_ENST00000337248.4_Missense_Mutation_p.V275M|GRHL3_ENST00000350501.5_Intron|STPG1_ENST00000003583.8_Missense_Mutation_p.V228M|STPG1_ENST00000440416.1_Missense_Mutation_p.V228M|STPG1_ENST00000468303.1_5'UTR	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	275					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											AAGTAGTCCACGATCTCATAC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		18631	0.0		0.001	False		,,,				2504	0.0																0													80.0	79.0	79.0					1																	24687446		2203	4300	6503	SO:0001583	missense	0			BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.823G>A	1.37:g.24687446C>T	ENSP00000363530:p.Val275Met		Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	NULL	p.V275M	ENST00000374409.1	37	c.823	CCDS55581.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085717	0.76642	.	.	ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248	.	.	.	5.74	5.74	0.90152	.	0.000000	0.64402	D	0.000003	T	0.80287	0.4595	M	0.77103	2.36	0.51767	D	0.999938	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.81782	-0.0775	9	0.72032	D	0.01	.	17.4274	0.87530	0.0:1.0:0.0:0.0	.	275;228	Q5TH74;Q5TH74-3	CA201_HUMAN;.	M	275;228;228;275	.	ENSP00000003583:V228M	V	-	1	0	C1orf201	24560033	0.999000	0.42202	0.999000	0.59377	0.728000	0.41692	5.191000	0.65110	2.717000	0.92951	0.563000	0.77884	GTG	STPG1	-	NULL	ENSG00000001460		0.567	STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	STPG1	HGNC	protein_coding	OTTHUMT00000009172.1	-	0.00	39	0	C	NM_178122		24687446	-1	tier1	-	no_errors	ENST00000337248	ensembl	human	known	74_37	missense	28.21	28	11	SNP	0.999	T
SYN2	6854	genome.wustl.edu	37	3	12224813	12224813	+	RNA	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:12224813G>T	ENST00000432424.2	+	0	1482							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						GTCTTCCAGAGCGGAACACTT	0.488																																																	0													37.0	37.0	37.0					3																	12224813		1853	4102	5955			0				CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12224813G>T			A8MY98	RNA	SNP	-	NULL	ENST00000432424.2	37	NULL		3	.	.	.	.	.	.	.	.	.	.	G	12.23	1.875472	0.33162	.	.	ENSG00000157152	ENST00000540660	.	.	.	4.94	4.94	0.65067	.	0.265114	0.37577	N	0.002025	T	0.38295	0.1035	L	0.29908	0.895	0.28124	N	0.930461	P;P	0.48294	0.851;0.908	B;P	0.46543	0.321;0.52	T	0.37407	-0.9707	9	0.87932	D	0	-7.4896	13.5131	0.61524	0.0:0.0:0.8439:0.1561	.	437;437	Q92777;Q92777-2	SYN2_HUMAN;.	I	369	.	ENSP00000442512:S369I	S	+	2	0	SYN2	12199813	1.000000	0.71417	0.993000	0.49108	0.940000	0.58332	4.205000	0.58466	2.447000	0.82792	0.655000	0.94253	AGC	SYN2	-	-	ENSG00000157152		0.488	SYN2-002	KNOWN	basic	processed_transcript	SYN2	HGNC	processed_transcript	OTTHUMT00000339528.3	-	0.00	61	0	G	NM_133625		12224813	+1	tier1	-	no_errors	ENST00000425297	ensembl	human	known	74_37	rna	5.56	68	4	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152552615	152552615	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:152552615T>G	ENST00000367255.5	-	114	21551	c.20950A>C	c.(20950-20952)Agt>Cgt	p.S6984R	SYNE1_ENST00000448038.1_Missense_Mutation_p.S6913R|SYNE1_ENST00000341594.5_Missense_Mutation_p.S6596R|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6984R|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1508R|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6913R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6984					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTACGCTTACTTTCCACATCC	0.393										HNSCC(10;0.0054)																																							0													158.0	141.0	147.0					6																	152552615		2203	4300	6503	SO:0001583	missense	0			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20950A>C	6.37:g.152552615T>G	ENSP00000356224:p.Ser6984Arg		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S6984R	ENST00000367255.5	37	c.20950	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	22.5	4.292808	0.80914	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27	5.99	5.99	0.97316	.	0.000000	0.64402	D	0.000001	T	0.52789	0.1756	M	0.79258	2.445	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.76575	0.972;0.972;0.988	T	0.51498	-0.8698	10	0.33141	T	0.24	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	6984;6984;6913	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	R	6984;6913;6984;6913;6596;1508	ENSP00000356224:S6984R;ENSP00000396024:S6913R;ENSP00000265368:S6984R;ENSP00000390975:S6913R;ENSP00000341887:S6596R;ENSP00000349276:S1508R	ENSP00000265368:S6984R	S	-	1	0	SYNE1	152594308	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	5.143000	0.64826	2.299000	0.77371	0.529000	0.55759	AGT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin	ENSG00000131018		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	-	0.00	49	0	T	NM_182961		152552615	-1	tier1	-	no_errors	ENST00000265368	ensembl	human	known	74_37	missense	48.18	57	53	SNP	1.000	G
TAS2R16	50833	genome.wustl.edu	37	7	122635132	122635132	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr7:122635132A>C	ENST00000249284.2	-	1	622	c.557T>G	c.(556-558)gTt>gGt	p.V186G		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	186					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GAAAGGAATAACCAATGCAAC	0.438																																																	0													161.0	140.0	147.0					7																	122635132		2203	4300	6503	SO:0001583	missense	0			AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.557T>G	7.37:g.122635132A>C	ENSP00000249284:p.Val186Gly		A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.V186G	ENST00000249284.2	37	c.557	CCDS5785.1	7	.	.	.	.	.	.	.	.	.	.	A	3.348	-0.133209	0.06711	.	.	ENSG00000128519	ENST00000249284	T	0.39229	1.09	4.0	-2.86	0.05717	.	3.371770	0.01324	N	0.011038	T	0.24122	0.0584	N	0.11064	0.09	0.09310	N	1	B	0.16603	0.018	B	0.16722	0.016	T	0.22906	-1.0203	10	0.56958	D	0.05	.	4.9307	0.13916	0.2858:0.3891:0.3252:0.0	.	186	Q9NYV7	T2R16_HUMAN	G	186	ENSP00000249284:V186G	ENSP00000249284:V186G	V	-	2	0	TAS2R16	122422368	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.274000	0.08537	-0.624000	0.05611	-0.331000	0.08364	GTT	TAS2R16	-	pfam_TAS2_rcpt	ENSG00000128519		0.438	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R16	HGNC	protein_coding	OTTHUMT00000347409.1	-	0.00	48	0	A	NM_016945		122635132	-1	tier1	-	no_errors	ENST00000249284	ensembl	human	known	74_37	missense	28.81	42	17	SNP	0.000	C
TBC1D19	55296	genome.wustl.edu	37	4	26673809	26673809	+	Splice_Site	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:26673809G>T	ENST00000264866.4	+	10	981	c.703G>T	c.(703-705)Gtt>Ttt	p.V235F	TBC1D19_ENST00000511789.1_Splice_Site_p.V170F	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	235							Rab GTPase activator activity (GO:0005097)			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TGGGCAAAAAGGTAAGCTTTT	0.284																																																	0													24.0	24.0	24.0					4																	26673809		2160	4254	6414	SO:0001630	splice_region_variant	0			AK001944	CCDS3439.1, CCDS75115.1	4p15.2	2008-02-05			ENSG00000109680	ENSG00000109680			25624	protein-coding gene	gene with protein product							Standard	XM_006713967		Approved	FLJ11082	uc003gsf.4	Q8N5T2	OTTHUMG00000097797	ENST00000264866.4:c.703+1G>T	4.37:g.26673809G>T			B9A6M0|Q9NUX1	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.V235F	ENST00000264866.4	37	c.703	CCDS3439.1	4	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019913	0.75275	.	.	ENSG00000109680	ENST00000512840;ENST00000264866;ENST00000505206;ENST00000511789	T;T;T;T	0.59638	0.33;1.16;0.25;1.19	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.70911	0.3278	M	0.69823	2.125	0.80722	D	1	D;P;P	0.61080	0.989;0.952;0.952	P;P;P	0.55871	0.786;0.69;0.69	T	0.75883	-0.3160	10	0.87932	D	0	-19.207	17.2995	0.87178	0.0:0.0:1.0:0.0	.	170;235;235	B9A6M0;A8K0R6;Q8N5T2	.;.;TBC19_HUMAN	F	204;235;170;170	ENSP00000427033:V204F;ENSP00000264866:V235F;ENSP00000423097:V170F;ENSP00000425569:V170F	ENSP00000264866:V235F	V	+	1	0	TBC1D19	26282907	1.000000	0.71417	1.000000	0.80357	0.697000	0.40408	6.749000	0.74883	2.336000	0.79503	0.479000	0.44913	GTT	TBC1D19	-	NULL	ENSG00000109680		0.284	TBC1D19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D19	HGNC	protein_coding	OTTHUMT00000215052.2	-	0.00	50	0	G	NM_018317	Missense_Mutation	26673809	+1	tier1	-	no_errors	ENST00000264866	ensembl	human	known	74_37	missense	29.27	29	12	SNP	1.000	T
TECTA	7007	genome.wustl.edu	37	11	120998499	120998499	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:120998499G>A	ENST00000392793.1	+	9	2084	c.1813G>A	c.(1813-1815)Gtg>Atg	p.V605M	TECTA_ENST00000264037.2_Missense_Mutation_p.V605M			O75443	TECTA_HUMAN	tectorin alpha	605	TIL 1.				cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCACTACTCCGTGTGCACAAG	0.637																																																	0													63.0	64.0	64.0					11																	120998499		2203	4298	6501	SO:0001583	missense	0			AF055136	CCDS8434.1	11q22-q24	2008-02-05			ENSG00000109927	ENSG00000109927			11720	protein-coding gene	gene with protein product		602574		DFNA12, DFNA8, DFNB21		9503015, 9590290	Standard	NM_005422		Approved		uc010rzo.2	O75443	OTTHUMG00000149908	ENST00000392793.1:c.1813G>A	11.37:g.120998499G>A	ENSP00000376543:p.Val605Met			Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom	p.V605M	ENST00000392793.1	37	c.1813	CCDS8434.1	11	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174299	0.78452	.	.	ENSG00000109927	ENST00000392793;ENST00000264037	D;D	0.90620	-2.7;-2.7	5.52	4.6	0.57074	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	0.063428	0.64402	D	0.000007	D	0.93697	0.7986	L	0.53729	1.69	0.46981	D	0.999272	D	0.76494	0.999	D	0.69824	0.966	D	0.93944	0.7226	10	0.54805	T	0.06	.	16.599	0.84804	0.0:0.1305:0.8695:0.0	.	605	O75443	TECTA_HUMAN	M	605	ENSP00000376543:V605M;ENSP00000264037:V605M	ENSP00000264037:V605M	V	+	1	0	TECTA	120503709	1.000000	0.71417	0.971000	0.41717	0.956000	0.61745	6.452000	0.73485	1.444000	0.47605	0.655000	0.94253	GTG	TECTA	-	pfam_TIL_dom,superfamily_TIL_dom	ENSG00000109927		0.637	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1	-	0.00	69	0	G	NM_005422		120998499	+1	tier1	-	no_errors	ENST00000264037	ensembl	human	known	74_37	missense	10.29	61	7	SNP	1.000	A
TENM1	10178	genome.wustl.edu	37	X	123519781	123519781	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:123519781C>T	ENST00000371130.3	-	28	5864	c.5801G>A	c.(5800-5802)cGg>cAg	p.R1934Q	TENM1_ENST00000422452.2_Missense_Mutation_p.R1941Q|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1934					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTAGATGTTCCGGTAGTAGCC	0.507																																																	0													149.0	126.0	134.0					X																	123519781		2203	4300	6503	SO:0001583	missense	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5801G>A	X.37:g.123519781C>T	ENSP00000360171:p.Arg1934Gln		B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.R1941Q	ENST00000371130.3	37	c.5822	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	34	5.349952	0.95830	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.87334	-2.24;-2.2	5.67	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.93210	0.7837	M	0.80982	2.52	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.978;0.992;0.999	D	0.93658	0.6979	10	0.72032	D	0.01	.	13.8909	0.63738	0.0:0.925:0.0:0.075	.	1940;1941;1934	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Q	1934;1941	ENSP00000360171:R1934Q;ENSP00000403954:R1941Q	ENSP00000360171:R1934Q	R	-	2	0	ODZ1	123347462	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	1.175000	0.42826	0.591000	0.81541	CGG	TENM1	-	NULL	ENSG00000009694		0.507	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	-	0.00	34	0	C	NM_014253		123519781	-1	tier1	-	no_errors	ENST00000422452	ensembl	human	known	74_37	missense	30.19	37	16	SNP	1.000	T
THAP9	79725	genome.wustl.edu	37	4	83840028	83840028	+	Missense_Mutation	SNP	G	G	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:83840028G>C	ENST00000302236.5	+	5	2714	c.2663G>C	c.(2662-2664)aGt>aCt	p.S888T	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	888					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GCTAATACCAGTAGTAAATTC	0.294																																																	0													61.0	68.0	66.0					4																	83840028		2150	4279	6429	SO:0001583	missense	0			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.2663G>C	4.37:g.83840028G>C	ENSP00000305533:p.Ser888Thr		B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.S888T	ENST00000302236.5	37	c.2663	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.961663	0.00465	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.90620	-2.7	0.149	0.149	0.14863	.	0.937914	0.08819	N	0.888988	T	0.80639	0.4661	N	0.08118	0	0.24003	N	0.996203	B	0.26041	0.14	B	0.32805	0.153	T	0.71328	-0.4626	9	0.87932	D	0	.	.	.	.	.	888	Q9H5L6	THAP9_HUMAN	T	888	ENSP00000305533:S888T	ENSP00000305533:S888T	S	+	2	0	THAP9	84059052	0.280000	0.24249	0.358000	0.25811	0.040000	0.13550	-0.485000	0.06520	0.192000	0.20272	0.195000	0.17529	AGT	THAP9	-	NULL	ENSG00000168152		0.294	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1		0.00	26	0	G	NM_024672		83840028	+1			no_errors	ENST00000302236	ensembl	human	known	74_37	missense	5.13	37	2	SNP	0.492	C
THBS1	7057	genome.wustl.edu	37	15	39885624	39885624	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr15:39885624T>G	ENST00000260356.5	+	19	3187	c.3022T>G	c.(3022-3024)Ttc>Gtc	p.F1008V	CTD-2033D15.1_ENST00000560769.1_RNA	NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1008	TSP C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00635}.			F -> S (in Ref. 3; BAF84328). {ECO:0000305}.	activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGCTGTGGACTTCAGTGGCAC	0.473																																																	0													242.0	250.0	247.0					15																	39885624		2200	4297	6497	SO:0001583	missense	0				CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.3022T>G	15.37:g.39885624T>G	ENSP00000260356:p.Phe1008Val		A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C	p.F1008V	ENST00000260356.5	37	c.3022	CCDS32194.1	15	.	.	.	.	.	.	.	.	.	.	T	25.2	4.617014	0.87359	.	.	ENSG00000137801	ENST00000260356	D	0.96774	-4.12	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Thrombospondin, C-terminal (2);	0.000000	0.37715	N	0.001961	D	0.98115	0.9378	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.996	D	0.98877	1.0768	10	0.62326	D	0.03	-20.2652	16.0747	0.80960	0.0:0.0:0.0:1.0	.	923;1008	B4E3J7;P07996	.;TSP1_HUMAN	V	1008	ENSP00000260356:F1008V	ENSP00000260356:F1008V	F	+	1	0	THBS1	37672916	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.036000	0.88901	2.190000	0.69967	0.533000	0.62120	TTC	THBS1	-	pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf	ENSG00000137801		0.473	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS1	HGNC	protein_coding	OTTHUMT00000257831.2	-	0.00	109	0	T	NM_003246		39885624	+1	tier1	-	no_errors	ENST00000260356	ensembl	human	known	74_37	missense	32.00	51	24	SNP	1.000	G
THEMIS	387357	genome.wustl.edu	37	6	128134756	128134756	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:128134756G>A	ENST00000368248.2	-	4	1178	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	THEMIS_ENST00000537166.1_Missense_Mutation_p.R309W|THEMIS_ENST00000543064.1_Missense_Mutation_p.R344W|THEMIS_ENST00000368250.1_Missense_Mutation_p.R265W	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	344	CABIT 2.				negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CTCGGTCGCCGCTTGAACTTG	0.468																																																	0													85.0	89.0	88.0					6																	128134756		2203	4300	6503	SO:0001583	missense	0			AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1030C>T	6.37:g.128134756G>A	ENSP00000357231:p.Arg344Trp		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	NULL	p.R344W	ENST00000368248.2	37	c.1030	CCDS34534.1	6	.	.	.	.	.	.	.	.	.	.	G	17.11	3.304997	0.60305	.	.	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166;ENST00000434358	T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4	5.55	-2.58	0.06228	.	0.000000	0.85682	D	0.000000	T	0.33556	0.0867	M	0.83223	2.63	0.44816	D	0.997821	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.59731	-0.7399	10	0.87932	D	0	-12.3425	18.7037	0.91630	0.0:0.0:0.1846:0.8154	.	344;344	F5H1J9;Q8N1K5	.;THMS1_HUMAN	W	265;344;344;309;112	ENSP00000357233:R265W;ENSP00000439594:R344W;ENSP00000357231:R344W;ENSP00000439863:R309W;ENSP00000387740:R112W	ENSP00000357231:R344W	R	-	1	2	THEMIS	128176449	0.996000	0.38824	0.996000	0.52242	0.990000	0.78478	0.253000	0.18296	-0.097000	0.12307	0.462000	0.41574	CGG	THEMIS	-	NULL	ENSG00000172673		0.468	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	THEMIS	HGNC	protein_coding		-	0.00	25	0	G	NM_001010923		128134756	-1	tier1	-	no_errors	ENST00000543064	ensembl	human	known	74_37	missense	14.81	46	8	SNP	0.991	A
TLE4	7091	genome.wustl.edu	37	9	82321669	82321669	+	Missense_Mutation	SNP	C	C	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr9:82321669C>A	ENST00000376552.2	+	11	1809	c.791C>A	c.(790-792)tCt>tAt	p.S264Y	TLE4_ENST00000265284.6_Missense_Mutation_p.S239Y|TLE4_ENST00000376544.3_Intron|TLE4_ENST00000376537.4_Missense_Mutation_p.S264Y|TLE4_ENST00000376520.4_Missense_Mutation_p.S264Y|TLE4_ENST00000376534.4_5'UTR	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	264	CCN domain.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TAGGATCCATCTTCCCCTCGA	0.493																																																	0													119.0	117.0	118.0					9																	82321669		1939	4124	6063	SO:0001583	missense	0			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.791C>A	9.37:g.82321669C>A	ENSP00000365735:p.Ser264Tyr		F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.S264Y	ENST00000376552.2	37	c.791	CCDS43837.1	9	.	.	.	.	.	.	.	.	.	.	C	24.8	4.570155	0.86542	.	.	ENSG00000106829	ENST00000376552;ENST00000376520;ENST00000376537;ENST00000265284	T;T;T;T	0.50277	0.75;0.82;0.8;0.81	6.05	6.05	0.98169	.	0.218755	0.49305	D	0.000152	T	0.64125	0.2570	L	0.52573	1.65	0.80722	D	1	P;P;B	0.40083	0.655;0.702;0.349	P;P;B	0.55999	0.601;0.789;0.396	T	0.59757	-0.7394	10	0.59425	D	0.04	-18.0728	20.6013	0.99457	0.0:1.0:0.0:0.0	.	239;264;264	F8W6T6;Q04727-3;Q04727	.;.;TLE4_HUMAN	Y	264;264;264;239	ENSP00000365735:S264Y;ENSP00000365703:S264Y;ENSP00000365720:S264Y;ENSP00000265284:S239Y	ENSP00000265284:S239Y	S	+	2	0	TLE4	81511489	0.988000	0.35896	0.928000	0.36995	0.960000	0.62799	4.946000	0.63576	2.878000	0.98634	0.650000	0.86243	TCT	TLE4	-	NULL	ENSG00000106829		0.493	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4	-	0.00	19	0	C	XM_212237		82321669	+1	tier1	-	no_errors	ENST00000376520	ensembl	human	known	74_37	missense	41.67	14	10	SNP	0.937	A
TLR4	7099	genome.wustl.edu	37	9	120475582	120475582	+	Silent	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr9:120475582T>C	ENST00000355622.6	+	3	1277	c.1176T>C	c.(1174-1176)tcT>tcC	p.S392S	TLR4_ENST00000394487.4_Silent_p.S352S|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	392					activation of MAPK activity (GO:0000187)|B cell proliferation involved in immune response (GO:0002322)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|detection of fungus (GO:0016046)|detection of lipopolysaccharide (GO:0032497)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|innate immune response (GO:0045087)|interferon-gamma production (GO:0032609)|intestinal epithelial structure maintenance (GO:0060729)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation (GO:0042116)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of tumor necrosis factor production (GO:0032720)|nitric oxide production involved in inflammatory response (GO:0002537)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine production (GO:0032722)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-1 production (GO:0032732)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070430)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|positive regulation of platelet activation (GO:0010572)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|lipopolysaccharide receptor complex (GO:0046696)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103					Naloxone(DB01183)	GTTGCTGTTCTCAAAGTGATT	0.393																																																	0													52.0	55.0	54.0					9																	120475582		2203	4300	6503	SO:0001819	synonymous_variant	0			U88880	CCDS6818.1	9q33.1	2013-01-23			ENSG00000136869	ENSG00000136869		"""CD molecules"""	11850	protein-coding gene	gene with protein product		603030				9435236, 9237759	Standard	NM_138554		Approved	hToll, CD284, TLR-4, ARMD10	uc004bjz.4	O00206	OTTHUMG00000021046	ENST00000355622.6:c.1176T>C	9.37:g.120475582T>C			A8K1Y8|A9XLP9|A9XLQ0|A9XLQ1|B4E194|D1CS52|D1CS53|Q5VZI8|Q5VZI9|Q9UK78|Q9UM57	Silent	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.S392	ENST00000355622.6	37	c.1176	CCDS6818.1	9																																																																																			TLR4	-	pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp	ENSG00000136869		0.393	TLR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR4	HGNC	protein_coding	OTTHUMT00000055549.3	-	0.00	20	0	T	NM_138554		120475582	+1	tier1	-	no_errors	ENST00000355622	ensembl	human	known	74_37	silent	47.62	11	10	SNP	0.914	C
TLR6	10333	genome.wustl.edu	37	4	38829336	38829336	+	Missense_Mutation	SNP	G	G	T	rs374188544		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:38829336G>T	ENST00000381950.1	-	1	1824	c.1759C>A	c.(1759-1761)Ctg>Atg	p.L587M	TLR6_ENST00000436693.2_Missense_Mutation_p.L587M			Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	587					activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to diacyl bacterial lipopeptide (GO:0071726)|defense response to bacterium (GO:0042742)|detection of diacyl bacterial lipopeptide (GO:0042496)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nitric oxide metabolic process (GO:0046209)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|regulation of cytokine secretion (GO:0050707)|signal transduction (GO:0007165)|T-helper 1 type immune response (GO:0042088)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 6 signaling pathway (GO:0034150)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Toll-like receptor 2-Toll-like receptor 6 protein complex (GO:0035355)	diacyl lipopeptide binding (GO:0042498)|lipopeptide binding (GO:0071723)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTGACGATCAGCAGAGTTATG	0.498																																																	0													105.0	101.0	102.0					4																	38829336		2203	4300	6503	SO:0001583	missense	0				CCDS3446.1	4p16.1	2009-11-23			ENSG00000174130	ENSG00000174130		"""CD molecules"""	16711	protein-coding gene	gene with protein product		605403				10231569	Standard	NM_006068		Approved	CD286	uc010ifg.2	Q9Y2C9	OTTHUMG00000128579	ENST00000381950.1:c.1759C>A	4.37:g.38829336G>T	ENSP00000371376:p.Leu587Met		B3Y640|B6CH35|B6RFS4|B6RFS5|Q2NKL3	Missense_Mutation	SNP	pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,pfam_Cys-rich_flank_reg_C,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.L587M	ENST00000381950.1	37	c.1759	CCDS3446.1	4	.	.	.	.	.	.	.	.	.	.	G	10.43	1.348724	0.24426	.	.	ENSG00000174130	ENST00000436693;ENST00000381950	T;T	0.10668	2.85;2.85	4.2	2.24	0.28232	.	0.000000	0.53938	D	0.000052	T	0.31009	0.0783	M	0.86740	2.835	0.41513	D	0.988355	P	0.48694	0.914	P	0.59357	0.856	T	0.19844	-1.0293	10	0.87932	D	0	.	10.4764	0.44667	0.1967:0.0:0.8033:0.0	.	587	Q9Y2C9	TLR6_HUMAN	M	587	ENSP00000389600:L587M;ENSP00000371376:L587M	ENSP00000371376:L587M	L	-	1	2	TLR6	38505731	0.866000	0.29940	0.910000	0.35882	0.403000	0.30841	0.377000	0.20552	0.978000	0.38470	0.491000	0.48974	CTG	TLR6	-	pirsf_Toll-like_receptor	ENSG00000174130		0.498	TLR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR6	HGNC	protein_coding	OTTHUMT00000250431.1	-	0.00	70	0	G			38829336	-1	tier1	-	no_errors	ENST00000381950	ensembl	human	known	74_37	missense	7.55	49	4	SNP	0.894	T
TMEM5	10329	genome.wustl.edu	37	12	64174918	64174918	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:64174918G>A	ENST00000261234.6	+	2	447	c.289G>A	c.(289-291)Gat>Aat	p.D97N	RP11-415I12.3_ENST00000509615.2_RNA|TMEM5_ENST00000537982.1_3'UTR|TMEM5_ENST00000537373.1_5'UTR	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	97						integral component of plasma membrane (GO:0005887)				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		AGGAAAAACAGATCTCAGTGT	0.328																																																	0													76.0	84.0	82.0					12																	64174918		2203	4300	6503	SO:0001583	missense	0			AB015633	CCDS8966.1, CCDS61179.1	12q14.1	2013-05-07			ENSG00000118600	ENSG00000118600			13530	protein-coding gene	gene with protein product		605862				10072769, 23217329	Standard	NM_014254		Approved	HP10481	uc001srq.2	Q9Y2B1	OTTHUMG00000168730	ENST00000261234.6:c.289G>A	12.37:g.64174918G>A	ENSP00000261234:p.Asp97Asn		A8K017|Q6PKD6	Missense_Mutation	SNP	pfam_Exostosin	p.D97N	ENST00000261234.6	37	c.289	CCDS8966.1	12	.	.	.	.	.	.	.	.	.	.	G	9.384	1.073730	0.20147	.	.	ENSG00000118600	ENST00000261234	T	0.29655	1.56	4.34	1.33	0.21861	.	0.679416	0.15610	N	0.253407	T	0.21022	0.0506	L	0.34521	1.04	0.23243	N	0.998056	B	0.30281	0.275	B	0.33890	0.172	T	0.20974	-1.0259	9	.	.	.	-26.0342	6.7192	0.23321	0.1003:0.3449:0.5548:0.0	.	97	Q9Y2B1	TMEM5_HUMAN	N	97	ENSP00000261234:D97N	.	D	+	1	0	TMEM5	62461185	0.988000	0.35896	0.209000	0.23619	0.291000	0.27294	1.141000	0.31528	0.141000	0.18875	-0.479000	0.04858	GAT	TMEM5	-	NULL	ENSG00000118600		0.328	TMEM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM5	HGNC	protein_coding	OTTHUMT00000400821.1	-	0.00	16	0	G	NM_014254		64174918	+1	tier1	-	no_errors	ENST00000261234	ensembl	human	known	74_37	missense	48.15	14	13	SNP	0.318	A
TMPRSS5	80975	genome.wustl.edu	37	11	113568120	113568120	+	Missense_Mutation	SNP	C	C	T	rs371934092		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:113568120C>T	ENST00000299882.5	-	5	497	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	TMPRSS5_ENST00000536856.1_5'UTR|TMPRSS5_ENST00000538955.1_Missense_Mutation_p.E73K|TMPRSS5_ENST00000544634.1_Missense_Mutation_p.E117K|TMPRSS5_ENST00000544476.1_Missense_Mutation_p.E73K|TMPRSS5_ENST00000540540.1_5'UTR|TMPRSS5_ENST00000545579.1_Missense_Mutation_p.E108K	NM_030770.2	NP_110397.2	Q9H3S3	TMPS5_HUMAN	transmembrane protease, serine 5	117	SRCR.				proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	peptidase activity (GO:0008233)|scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10		all_cancers(61;2.71e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.75e-06)|Epithelial(105;6.34e-05)|all cancers(92;0.000502)		AAGAAGTCTTCGCTGTTTATT	0.567																																																	0								C	LYS/GLU	0,4038		0,0,2019	36.0	38.0	38.0		349	2.0	0.5	11		38	1,8409		0,1,4204	no	missense	TMPRSS5	NM_030770.2	56	0,1,6223	TT,TC,CC		0.0119,0.0,0.0080	benign	117/458	113568120	1,12447	2019	4205	6224	SO:0001583	missense	0			AB028140	CCDS44735.1, CCDS73390.1, CCDS73391.1, CCDS73392.1, CCDS73393.1	11q	2010-04-13	2008-07-31		ENSG00000166682	ENSG00000166682		"""Serine peptidases / Transmembrane"""	14908	protein-coding gene	gene with protein product	"""spinesin"""	606751					Standard	NM_030770		Approved	MGC141886, MGC148044	uc001poc.4	Q9H3S3	OTTHUMG00000168186	ENST00000299882.5:c.349G>A	11.37:g.113568120C>T	ENSP00000299882:p.Glu117Lys			Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.E117K	ENST00000299882.5	37	c.349	CCDS44735.1	11	.	.	.	.	.	.	.	.	.	.	C	6.733	0.503999	0.12822	0.0	1.19E-4	ENSG00000166682	ENST00000299882;ENST00000545579;ENST00000538955;ENST00000544634;ENST00000544476	T;T;T;T;T	0.60424	0.19;0.19;0.19;0.19;0.19	5.31	1.98	0.26296	Speract/scavenger receptor (1);Speract/scavenger receptor-related (1);	0.327534	0.28677	N	0.014510	T	0.44371	0.1290	M	0.67953	2.075	0.09310	N	1	B;B;B	0.16396	0.007;0.017;0.011	B;B;B	0.09377	0.003;0.004;0.004	T	0.20974	-1.0259	10	0.11182	T	0.66	.	3.0715	0.06233	0.0:0.4661:0.2269:0.307	.	117;108;117	F5GYA3;F5GX83;Q9H3S3	.;.;TMPS5_HUMAN	K	117;108;73;117;73	ENSP00000299882:E117K;ENSP00000441104:E108K;ENSP00000445528:E73K;ENSP00000440783:E117K;ENSP00000445930:E73K	ENSP00000299882:E117K	E	-	1	0	TMPRSS5	113073330	0.025000	0.19082	0.548000	0.28192	0.008000	0.06430	1.718000	0.38001	0.606000	0.29965	-1.259000	0.01468	GAA	TMPRSS5	-	superfamily_Srcr_rcpt-rel	ENSG00000166682		0.567	TMPRSS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS5	HGNC	protein_coding	OTTHUMT00000398652.1	-	0.00	19	0	C	NM_030770		113568120	-1	tier1	-	no_errors	ENST00000299882	ensembl	human	known	74_37	missense	29.17	34	14	SNP	0.162	T
TMTC4	84899	genome.wustl.edu	37	13	101278362	101278362	+	Missense_Mutation	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr13:101278362G>T	ENST00000376234.3	-	12	1681	c.1492C>A	c.(1492-1494)Cag>Aag	p.Q498K	TMTC4_ENST00000342624.5_Missense_Mutation_p.Q517K|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Missense_Mutation_p.Q387K	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	498						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAGCTGTCTGGTTGCCTTTA	0.438																																																	0													125.0	117.0	120.0					13																	101278362		2203	4300	6503	SO:0001583	missense	0				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1492C>A	13.37:g.101278362G>T	ENSP00000365408:p.Gln498Lys		A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	pfam_TPR_1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q517K	ENST00000376234.3	37	c.1549	CCDS41904.1	13	.	.	.	.	.	.	.	.	.	.	G	7.770	0.707349	0.15239	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.59364	0.27;0.27;0.27	5.3	5.3	0.74995	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.167038	0.53938	D	0.000048	T	0.34424	0.0897	N	0.02960	-0.455	0.40862	D	0.983842	B;B;B;B	0.14438	0.003;0.01;0.002;0.009	B;B;B;B	0.17433	0.008;0.018;0.017;0.003	T	0.29579	-1.0007	10	0.09843	T	0.71	.	19.3243	0.94254	0.0:0.0:1.0:0.0	.	387;498;498;517	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	K	498;517;387	ENSP00000365408:Q498K;ENSP00000343871:Q517K;ENSP00000365409:Q387K	ENSP00000365409:Q387K	Q	-	1	0	TMTC4	100076363	1.000000	0.71417	0.991000	0.47740	0.863000	0.49368	5.062000	0.64326	2.627000	0.88993	0.655000	0.94253	CAG	TMTC4	-	pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000125247		0.438	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC4	HGNC	protein_coding	OTTHUMT00000045649.2	-	0.00	44	0	G	NM_032813		101278362	-1	tier1	-	no_errors	ENST00000342624	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
TNXB	7148	genome.wustl.edu	37	6	32064958	32064958	+	Silent	SNP	G	G	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:32064958G>C	ENST00000479795.1	-	3	812	c.672C>G	c.(670-672)ggC>ggG	p.G224G	TNXB_ENST00000375247.2_Silent_p.G224G|TNXB_ENST00000375244.3_Silent_p.G224G			P22105	TENX_HUMAN	tenascin XB	224	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGCGCCCACGGCCTTGGCAGT	0.687																																																	0													13.0	17.0	16.0					6																	32064958		2149	4225	6374	SO:0001819	synonymous_variant	0			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000479795.1:c.672C>G	6.37:g.32064958G>C			P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.G224	ENST00000479795.1	37	c.672		6																																																																																			TNXB	-	pfam_EGF_extracell,smart_EG-like_dom	ENSG00000168477		0.687	TNXB-007	PUTATIVE	basic|exp_conf	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000357059.1	-	0.00	67	0	G	NM_019105		32064958	-1	tier1	-	no_errors	ENST00000375247	ensembl	human	known	74_37	silent	26.85	79	29	SNP	0.900	C
TP53	7157	genome.wustl.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	rs397516436		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr17:7578212G>A	ENST00000269305.4	-	6	826	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*	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	213	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)	ACACTATGTCGAAAAGTGTTT	0.532		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"""	333	Substitution - Nonsense(292)|Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Insertion - Frameshift(5)|Unknown(5)|Complex - deletion inframe(1)|Substitution - coding silent(1)	large_intestine(89)|breast(45)|lung(37)|upper_aerodigestive_tract(30)|central_nervous_system(18)|skin(16)|oesophagus(15)|stomach(14)|ovary(14)|haematopoietic_and_lymphoid_tissue(10)|urinary_tract(9)|biliary_tract(8)|liver(8)|soft_tissue(5)|endometrium(5)|bone(4)|prostate(3)|thyroid(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM951226	TP53	M							132.0	118.0	123.0					17																	7578212		2203	4300	6503	SO:0001587	stop_gained	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.637C>T	17.37:g.7578212G>A	ENSP00000269305:p.Arg213*		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	Nonsense_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.R213*	ENST00000269305.4	37	c.637	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.039727	0.97226	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.28	3.25	0.37280	.	0.057335	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.5444	12.7263	0.57173	0.0:0.0:0.701:0.299	.	.	.	.	X	213;213;213;213;213;213;202;120;81;120;81	.	ENSP00000269305:R213X	R	-	1	2	TP53	7518937	0.971000	0.33674	0.123000	0.21794	0.957000	0.61999	1.659000	0.37387	0.702000	0.31825	0.563000	0.77884	CGA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.532	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	449	0	G	NM_000546		7578212	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	nonsense	75.18	102	309	SNP	0.893	A
TPTE	7179	genome.wustl.edu	37	21	11020889	11020889	+	5'UTR	SNP	C	C	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr21:11020889C>A	ENST00000415664.2	-	0	369				BAGE2_ENST00000470054.1_RNA			P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGCTCCTTGGCCAAAACTGCC	0.348																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.-2967G>T	21.37:g.11020889C>A			B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	RNA	SNP	-	NULL	ENST00000415664.2	37	NULL		21																																																																																			TPTE	-	-	ENSG00000166157		0.348	TPTE-006	KNOWN	basic	processed_transcript	TPTE	HGNC	protein_coding	OTTHUMT00000340030.1	-	0.00	180	0	C			11020889	-1	tier1	-	no_errors	ENST00000415664	ensembl	human	known	74_37	rna	26.40	131	47	SNP	1.000	A
TRPM1	4308	genome.wustl.edu	37	15	31338420	31338420	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr15:31338420A>C	ENST00000256552.6	-	16	1928	c.1781T>G	c.(1780-1782)cTt>cGt	p.L594R	TRPM1_ENST00000542188.1_Missense_Mutation_p.L611R|TRPM1_ENST00000397795.2_Missense_Mutation_p.L572R	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CATTCCCAGAAGTTTAAGAGC	0.318																																																	0													79.0	75.0	76.0					15																	31338420		1807	4081	5888	SO:0001583	missense	0			AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.1781T>G	15.37:g.31338420A>C	ENSP00000256552:p.Leu594Arg			Missense_Mutation	SNP	pfam_Ion_trans_dom	p.L611R	ENST00000256552.6	37	c.1832	CCDS58346.1	15	.	.	.	.	.	.	.	.	.	.	A	17.85	3.491227	0.64074	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.74737	-0.87;-0.87;-0.87	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.70064	0.3181	L	0.40543	1.245	0.80722	D	1	B;B	0.31174	0.311;0.102	B;B	0.35899	0.213;0.067	T	0.72547	-0.4260	10	0.87932	D	0	-16.9093	14.9754	0.71267	1.0:0.0:0.0:0.0	.	566;572	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	R	572;611;594;572	ENSP00000380897:L572R;ENSP00000437849:L611R;ENSP00000256552:L594R	ENSP00000256552:L594R	L	-	2	0	TRPM1	29125712	1.000000	0.71417	0.998000	0.56505	0.965000	0.64279	8.962000	0.93254	1.948000	0.56530	0.455000	0.32223	CTT	TRPM1	-	NULL	ENSG00000134160		0.318	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	TRPM1	HGNC	protein_coding	OTTHUMT00000417166.2	-	0.00	9	0	A	NM_002420		31338420	-1	tier1	-	no_errors	ENST00000542188	ensembl	human	known	74_37	missense	60.00	4	6	SNP	1.000	C
TSG101	7251	genome.wustl.edu	37	11	18537669	18537669	+	Missense_Mutation	SNP	C	C	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr11:18537669C>G	ENST00000251968.3	-	3	585	c.170G>C	c.(169-171)gGa>gCa	p.G57A	TSG101_ENST00000543087.1_5'Flank|TSG101_ENST00000357193.3_Intron|TSG101_ENST00000536719.1_Missense_Mutation_p.G57A	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	57	UEV. {ECO:0000255|PROSITE- ProRule:PRU00652}.				cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						AGGGATTGTTCCAGTGAGGTT	0.338																																					GBM(99;1348 1396 8611 26475 50572)												0													86.0	84.0	85.0					11																	18537669		2199	4293	6492	SO:0001583	missense	0			U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.170G>C	11.37:g.18537669C>G	ENSP00000251968:p.Gly57Ala		Q9BUM5	Missense_Mutation	SNP	pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD	p.G57A	ENST00000251968.3	37	c.170	CCDS7842.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.309763	0.95629	.	.	ENSG00000074319	ENST00000536719;ENST00000251968	D;D	0.92647	-3.08;-2.99	5.67	5.67	0.87782	Ubiquitin E2 variant, N-terminal (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	D	0.97742	0.9259	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98383	1.0559	10	0.87932	D	0	-4.9352	20.1243	0.97973	0.0:1.0:0.0:0.0	.	57	Q99816	TS101_HUMAN	A	57	ENSP00000438471:G57A;ENSP00000251968:G57A	ENSP00000251968:G57A	G	-	2	0	TSG101	18494245	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.501000	0.81600	2.823000	0.97156	0.591000	0.81541	GGA	TSG101	-	pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD	ENSG00000074319		0.338	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSG101	HGNC	protein_coding	OTTHUMT00000395906.1	-	0.00	35	0	C	NM_006292		18537669	-1	tier1	-	no_errors	ENST00000251968	ensembl	human	known	74_37	missense	11.11	40	5	SNP	1.000	G
TTBK1	84630	genome.wustl.edu	37	6	43250725	43250725	+	Missense_Mutation	SNP	G	G	T	rs373093693|rs113160341|rs551356837	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:43250725G>T	ENST00000259750.4	+	14	2330	c.2247G>T	c.(2245-2247)gaG>gaT	p.E749D		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	749	Glu-rich.				substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			aagaggatgaggaagaagaag	0.592																																																	0													18.0	18.0	18.0					6																	43250725		2203	4297	6500	SO:0001583	missense	0			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.2247G>T	6.37:g.43250725G>T	ENSP00000259750:p.Glu749Asp		A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	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.E749D	ENST00000259750.4	37	c.2247	CCDS34455.1	6	.	.	.	.	.	.	.	.	.	.	G	6.995	0.553695	0.13374	.	.	ENSG00000146216	ENST00000259750	T	0.10477	2.87	4.12	2.28	0.28536	.	0.095428	0.38720	N	0.001593	T	0.03348	0.0097	L	0.36672	1.1	0.50813	D	0.999892	B	0.19817	0.039	B	0.21360	0.034	T	0.22103	-1.0226	10	0.48119	T	0.1	.	8.2461	0.31689	0.2094:0.0:0.7906:0.0	.	749	Q5TCY1	TTBK1_HUMAN	D	749	ENSP00000259750:E749D	ENSP00000259750:E749D	E	+	3	2	TTBK1	43358703	0.066000	0.20996	0.265000	0.24526	0.035000	0.12851	-1.381000	0.02549	0.706000	0.31912	0.555000	0.69702	GAG	TTBK1	-	NULL	ENSG00000146216		0.592	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3		0.00	14	0	G			43250725	+1			no_errors	ENST00000259750	ensembl	human	known	74_37	missense	9.62	47	5	SNP	0.754	T
U2SURP	23350	genome.wustl.edu	37	3	142747238	142747238	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:142747238C>T	ENST00000473835.2	+	15	1526	c.1436C>T	c.(1435-1437)tCt>tTt	p.S479F	U2SURP_ENST00000397933.2_Missense_Mutation_p.S70F|U2SURP_ENST00000493598.2_Missense_Mutation_p.S478F	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	479					RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						AAGCTTTATTCTATTCTGCAG	0.313																																																	0													75.0	71.0	72.0					3																	142747238		1795	4070	5865	SO:0001583	missense	0			BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.1436C>T	3.37:g.142747238C>T	ENSP00000418563:p.Ser479Phe		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_CID_dom,pfscan_Surp,pfscan_RRM_dom	p.S479F	ENST00000473835.2	37	c.1436	CCDS46928.1	3	.	.	.	.	.	.	.	.	.	.	C	20.5	3.993049	0.74703	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598;ENST00000480029	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.88	5.0	0.66597	SWAP/Surp (1);	0.105252	0.64402	D	0.000002	T	0.71005	0.3289	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.77702	-0.2489	10	0.87932	D	0	-14.4903	10.7203	0.46036	0.133:0.7993:0.0:0.0677	.	478;70;479	O15042-2;O15042-3;O15042	.;.;SR140_HUMAN	F	479;479;70;478;46	ENSP00000418563:S479F;ENSP00000381027:S70F;ENSP00000422011:S478F;ENSP00000417441:S46F	ENSP00000322376:S479F	S	+	2	0	U2SURP	144229928	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.751000	0.68720	1.476000	0.48215	0.655000	0.94253	TCT	U2SURP	-	superfamily_Surp,smart_Surp	ENSG00000163714		0.313	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	U2SURP	HGNC	protein_coding	OTTHUMT00000354603.2	-	0.00	41	0	C	NM_001080415		142747238	+1	tier1	-	no_errors	ENST00000473835	ensembl	human	known	74_37	missense	6.85	68	5	SNP	1.000	T
UBE2N	7334	genome.wustl.edu	37	12	93804925	93804925	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:93804925C>T	ENST00000318066.2	-	2	558	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K	UBE2N_ENST00000550657.1_Missense_Mutation_p.E61K|UBE2N_ENST00000549833.1_5'UTR|UBE2N_ENST00000552442.1_Missense_Mutation_p.E61K	NM_003348.3	NP_003339.1	P61088	UBE2N_HUMAN	ubiquitin-conjugating enzyme E2N	61					cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|DNA double-strand break processing (GO:0000729)|double-strand break repair via homologous recombination (GO:0000724)|Fc-epsilon receptor signaling pathway (GO:0038095)|histone ubiquitination (GO:0016574)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone modification (GO:0031058)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|postreplication repair (GO:0006301)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of DNA repair (GO:0006282)|regulation of histone ubiquitination (GO:0033182)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)|UBC13-MMS2 complex (GO:0031372)|UBC13-UEV1A complex (GO:0035370)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(3)|liver(2)|lung(5)	10						ATTGGGTATTCTTCTGGAAGG	0.408								Direct reversal of damage;Rad6 pathway																													Pancreas(197;738 2228 30225 32034 33454)												0													90.0	89.0	89.0					12																	93804925		2203	4300	6503	SO:0001583	missense	0			D83004	CCDS31875.1	12q22	2011-05-19	2011-05-19			ENSG00000177889		"""Ubiquitin-conjugating enzymes E2"""	12492	protein-coding gene	gene with protein product		603679	"""ubiquitin-conjugating enzyme E2N (homologous to yeast UBC13)"", ""ubiquitin-conjugating enzyme E2N (UBC13 homolog, yeast)"""			8902611	Standard	NM_003348		Approved	UbcH-ben, UBC13, MGC8489	uc001tcp.3	P61088	OTTHUMG00000170156	ENST00000318066.2:c.181G>A	12.37:g.93804925C>T	ENSP00000316176:p.Glu61Lys		Q16781|Q53Y81	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.E61K	ENST00000318066.2	37	c.181	CCDS31875.1	12	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347138	0.82022	.	.	ENSG00000177889	ENST00000318066;ENST00000550657;ENST00000552442	T;T;T	0.72835	-0.69;-0.69;-0.69	5.94	5.94	0.96194	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.43919	U	0.000509	T	0.71888	0.3393	M	0.69248	2.105	0.80722	D	1	B	0.33318	0.408	B	0.30943	0.122	T	0.73091	-0.4092	10	0.87932	D	0	.	20.3736	0.98901	0.0:1.0:0.0:0.0	.	61	P61088	UBE2N_HUMAN	K	61	ENSP00000316176:E61K;ENSP00000449352:E61K;ENSP00000448352:E61K	ENSP00000316176:E61K	E	-	1	0	UBE2N	92329056	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.659000	0.83766	2.820000	0.97059	0.650000	0.86243	GAA	UBE2N	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	ENSG00000177889		0.408	UBE2N-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2N	HGNC	protein_coding	OTTHUMT00000407710.1	-	0.00	38	0	C	NM_003348		93804925	-1	tier1	-	no_errors	ENST00000318066	ensembl	human	known	74_37	missense	49.18	31	30	SNP	1.000	T
UBE2W	55284	genome.wustl.edu	37	8	74791117	74791117	+	5'Flank	DEL	C	C	-	rs34887574		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:74791117delC	ENST00000602593.1	-	0	0				RP11-463D19.2_ENST00000358757.5_5'Flank|UBE2W_ENST00000517608.1_Frame_Shift_Del_p.A10fs|UBE2W_ENST00000453587.2_5'Flank|UBE2W_ENST00000602969.1_5'Flank|UBE2W_ENST00000419880.3_Frame_Shift_Del_p.A10fs			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)						cellular response to misfolded protein (GO:0071218)|DNA repair (GO:0006281)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein monoubiquitination (GO:0006513)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			AGCTGCCGTGCTCGCGTCACG	0.701																																					Pancreas(14;490 592 20090 21022 23311)												0													13.0	15.0	15.0					8																	74791117		692	1589	2281	SO:0001631	upstream_gene_variant	0			AK001873	CCDS47874.1, CCDS47875.1, CCDS47874.2, CCDS47875.2	8q21.11	2010-07-07			ENSG00000104343	ENSG00000104343		"""Ubiquitin-conjugating enzymes E2"""	25616	protein-coding gene	gene with protein product		614277				12477932	Standard	NM_001001481		Approved	FLJ11011	uc003xzu.4	Q96B02	OTTHUMG00000164517		8.37:g.74791117delC	Exception_encountered		B4DIV1|Q1XBE0|Q9H823|Q9HAG6|Q9NV07	Frame_Shift_Del	DEL	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.A10fs	ENST00000602593.1	37	c.28		8																																																																																			UBE2W	-	NULL	ENSG00000104343		0.701	UBE2W-202	KNOWN	basic|appris_principal	protein_coding	UBE2W	HGNC	protein_coding			0.00	70	0	C	NM_001001481		74791117	-1			no_errors	ENST00000419880	ensembl	human	known	74_37	frame_shift_del	9.76	74	8	DEL	1.000	0
UBE3B	89910	genome.wustl.edu	37	12	109937476	109937476	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:109937476T>A	ENST00000342494.3	+	12	1574	c.979T>A	c.(979-981)Tta>Ata	p.L327I	UBE3B_ENST00000434735.2_Missense_Mutation_p.L327I|UBE3B_ENST00000280774.5_Missense_Mutation_p.L327I	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	327					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						CCCCAGAGTGTTAGAGGAGGA	0.557																																																	0													115.0	95.0	102.0					12																	109937476		2203	4300	6503	SO:0001583	missense	0			BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.979T>A	12.37:g.109937476T>A	ENSP00000340596:p.Leu327Ile		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.L327I	ENST00000342494.3	37	c.979	CCDS9129.1	12	.	.	.	.	.	.	.	.	.	.	T	22.4	4.281200	0.80692	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000539599;ENST00000342494	T;T;T;T	0.52057	1.09;0.68;1.33;1.09	5.64	-6.16	0.02098	.	0.000000	0.85682	D	0.000000	T	0.54240	0.1846	M	0.71581	2.175	0.58432	D	0.999995	D	0.67145	0.996	P	0.61722	0.893	T	0.62186	-0.6907	10	0.39692	T	0.17	-1.558	11.186	0.48657	0.1013:0.6187:0.0:0.28	.	327	Q7Z3V4	UBE3B_HUMAN	I	327	ENSP00000391529:L327I;ENSP00000280774:L327I;ENSP00000443131:L327I;ENSP00000340596:L327I	ENSP00000280774:L327I	L	+	1	2	UBE3B	108421859	0.066000	0.20996	0.509000	0.27700	0.953000	0.61014	-0.068000	0.11561	-0.926000	0.03770	0.477000	0.44152	TTA	UBE3B	-	NULL	ENSG00000151148		0.557	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3B	HGNC	protein_coding	OTTHUMT00000403119.1	-	0.00	65	0	T	NM_183415		109937476	+1	tier1	-	no_errors	ENST00000342494	ensembl	human	known	74_37	missense	13.33	91	14	SNP	0.936	A
UNC13A	23025	genome.wustl.edu	37	19	17758183	17758183	+	Silent	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:17758183G>T	ENST00000519716.2	-	17	1934	c.1935C>A	c.(1933-1935)atC>atA	p.I645I	UNC13A_ENST00000551649.1_Silent_p.I645I|UNC13A_ENST00000552293.1_Silent_p.I645I|UNC13A_ENST00000550896.1_Silent_p.I643I|UNC13A_ENST00000252773.7_Silent_p.I645I|UNC13A_ENST00000428389.2_Silent_p.I733I	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	645					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGATCTCCTGGATGAGCTCGA	0.607																																																	0													69.0	74.0	72.0					19																	17758183		2150	4273	6423	SO:0001819	synonymous_variant	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.1935C>A	19.37:g.17758183G>T			E5RHY9	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.I733	ENST00000519716.2	37	c.2199	CCDS46013.2	19																																																																																			UNC13A	-	NULL	ENSG00000130477		0.607	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2		0.00	34	0	G	XM_038604		17758183	-1			no_errors	ENST00000428389	ensembl	human	known	74_37	silent	9.09	40	4	SNP	1.000	T
VEPH1	79674	genome.wustl.edu	37	3	157188234	157188234	+	Missense_Mutation	SNP	T	T	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr3:157188234T>A	ENST00000362010.2	-	3	530	c.223A>T	c.(223-225)Att>Ttt	p.I75F	VEPH1_ENST00000494677.1_Missense_Mutation_p.I75F|VEPH1_ENST00000392833.2_Missense_Mutation_p.I75F|VEPH1_ENST00000392832.2_Missense_Mutation_p.I75F|VEPH1_ENST00000537559.1_Missense_Mutation_p.I75F|VEPH1_ENST00000468233.1_Missense_Mutation_p.I75F|VEPH1_ENST00000543418.1_Missense_Mutation_p.I75F	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	75						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			TGCTTTTCAATGGACTCGGTC	0.448																																																	0													186.0	174.0	178.0					3																	157188234		2203	4300	6503	SO:0001583	missense	0			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.223A>T	3.37:g.157188234T>A	ENSP00000354919:p.Ile75Phe		D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.I75F	ENST00000362010.2	37	c.223	CCDS3179.1	3	.	.	.	.	.	.	.	.	.	.	T	17.59	3.428291	0.62844	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832;ENST00000494677;ENST00000537559;ENST00000468233;ENST00000487753	T;T;T;T	0.38560	1.13;1.13;1.13;1.13	5.67	5.67	0.87782	.	0.056190	0.64402	D	0.000001	T	0.66015	0.2747	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;0.996;1.0	D;P;D	0.74674	0.984;0.9;0.963	T	0.70710	-0.4797	10	0.87932	D	0	11.6693	15.9204	0.79562	0.0:0.0:0.0:1.0	.	75;75;75	Q14D04-2;Q14D04-3;Q14D04	.;.;MELT_HUMAN	F	75	ENSP00000376578:I75F;ENSP00000354919:I75F;ENSP00000446258:I75F;ENSP00000376577:I75F	ENSP00000354919:I75F	I	-	1	0	VEPH1	158670928	1.000000	0.71417	0.921000	0.36526	0.278000	0.26855	5.857000	0.69525	2.164000	0.68074	0.533000	0.62120	ATT	VEPH1	-	superfamily_ARM-type_fold	ENSG00000197415		0.448	VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEPH1	HGNC	protein_coding	OTTHUMT00000351845.3	-	0.00	80	0	T	NM_024621		157188234	-1	tier1	-	no_errors	ENST00000362010	ensembl	human	known	74_37	missense	15.69	86	16	SNP	0.994	A
VPS35	55737	genome.wustl.edu	37	16	46710559	46710559	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:46710559G>A	ENST00000299138.7	-	8	908	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	VPS35_ENST00000568642.1_5'UTR	NM_018206.4	NP_060676.2	Q96QK1	VPS35_HUMAN	vacuolar protein sorting 35 homolog (S. cerevisiae)	284					cell death (GO:0008219)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|retromer complex (GO:0030904)				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCACAGGCCCGAAGAAAAGGA	0.368																																																	0													77.0	72.0	74.0					16																	46710559		2203	4300	6503	SO:0001583	missense	0			AF175265	CCDS10721.1	16q12	2012-06-27	2006-12-19		ENSG00000069329	ENSG00000069329		"""Parkinson disease"""	13487	protein-coding gene	gene with protein product		601501	"""vacuolar protein sorting 35 (yeast homolog)"", ""vacuolar protein sorting 35 (yeast)"""			11112353, 21763482	Standard	NM_018206		Approved	FLJ10752, MEM3, PARK17	uc002eef.4	Q96QK1	OTTHUMG00000132542	ENST00000299138.7:c.850C>T	16.37:g.46710559G>A	ENSP00000299138:p.Arg284Trp		Q561W2|Q9H016|Q9H096|Q9H4P3|Q9H8J0|Q9NRS7|Q9NVG2|Q9NX80|Q9NZK2	Missense_Mutation	SNP	pfam_VPS35,superfamily_ARM-type_fold	p.R284W	ENST00000299138.7	37	c.850	CCDS10721.1	16	.	.	.	.	.	.	.	.	.	.	.	22.3	4.267739	0.80469	.	.	ENSG00000069329	ENST00000299138;ENST00000541330	T	0.44482	0.92	5.29	4.31	0.51392	.	0.000000	0.85682	D	0.000000	T	0.53850	0.1822	L	0.46157	1.445	0.80722	D	1	D;D	0.89917	1.0;0.993	P;D	0.63283	0.903;0.913	T	0.57021	-0.7882	10	0.72032	D	0.01	-14.2778	13.1981	0.59752	0.0:0.0:0.5758:0.4242	.	284;149	Q96QK1;F5GYF5	VPS35_HUMAN;.	W	284;149	ENSP00000299138:R284W	ENSP00000299138:R284W	R	-	1	2	VPS35	45268060	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.260000	0.58835	1.274000	0.44362	0.655000	0.94253	CGG	VPS35	-	pfam_VPS35,superfamily_ARM-type_fold	ENSG00000069329		0.368	VPS35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS35	HGNC	protein_coding	OTTHUMT00000255742.3	-	0.00	36	0	G			46710559	-1	tier1	-	no_errors	ENST00000299138	ensembl	human	known	74_37	missense	34.29	46	24	SNP	1.000	A
VWA7	80737	genome.wustl.edu	37	6	31741184	31741184	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:31741184C>T	ENST00000375688.4	-	6	952	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	VWA7_ENST00000447450.1_Missense_Mutation_p.R251Q|VWA7_ENST00000375686.3_Missense_Mutation_p.R251Q|VWA7_ENST00000467576.1_Intron			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	251						extracellular region (GO:0005576)											GGAGCTGCTCCGGTCAAAATG	0.587																																																	0													48.0	48.0	48.0					6																	31741184		2203	4298	6501	SO:0001583	missense	0				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.752G>A	6.37:g.31741184C>T	ENSP00000364840:p.Arg251Gln		A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	NULL	p.R251Q	ENST00000375688.4	37	c.752	CCDS4721.2	6	.	.	.	.	.	.	.	.	.	.	C	6.009	0.370073	0.11352	.	.	ENSG00000204396	ENST00000375688;ENST00000375686;ENST00000447450	T;T;T	0.30448	2.77;2.54;1.53	5.92	-6.88	0.01665	.	0.909688	0.09563	N	0.785292	T	0.01353	0.0044	N	0.01048	-1.04	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31971	-0.9924	10	0.08381	T	0.77	-0.0063	2.54	0.04723	0.197:0.3622:0.1004:0.3404	.	251	Q9Y334	G7C_HUMAN	Q	251	ENSP00000364840:R251Q;ENSP00000364838:R251Q;ENSP00000390554:R251Q	ENSP00000364838:R251Q	R	-	2	0	C6orf27	31849163	0.005000	0.15991	0.472000	0.27241	0.760000	0.43138	-1.061000	0.03472	-2.115000	0.00831	-2.680000	0.00142	CGG	VWA7	-	NULL	ENSG00000204396		0.587	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	VWA7	HGNC	protein_coding	OTTHUMT00000076233.2	-	0.00	52	0	C	NM_025258		31741184	-1	tier1	-	no_errors	ENST00000375686	ensembl	human	known	74_37	missense	24.78	85	28	SNP	0.083	T
WDR17	116966	genome.wustl.edu	37	4	177046415	177046415	+	Silent	SNP	T	T	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:177046415T>C	ENST00000280190.4	+	6	927	c.771T>C	c.(769-771)tcT>tcC	p.S257S	WDR17_ENST00000393643.2_Silent_p.S233S|WDR17_ENST00000508596.1_Silent_p.S233S|WDR17_ENST00000507824.2_Silent_p.S240S			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	257										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AATCACTTTCTTGCATAACAA	0.433																																																	0													192.0	194.0	193.0					4																	177046415		2203	4300	6503	SO:0001819	synonymous_variant	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.771T>C	4.37:g.177046415T>C			E7EQX0|Q0QD35	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S257	ENST00000280190.4	37	c.771	CCDS3825.1	4																																																																																			WDR17	-	superfamily_WD40_repeat_dom,smart_WD40_repeat	ENSG00000150627		0.433	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	-	0.00	51	0	T			177046415	+1	tier1	-	no_errors	ENST00000280190	ensembl	human	known	74_37	silent	27.27	32	12	SNP	0.817	C
WDR17	116966	genome.wustl.edu	37	4	177052846	177052846	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr4:177052846T>G	ENST00000280190.4	+	8	1283	c.1127T>G	c.(1126-1128)cTt>cGt	p.L376R	WDR17_ENST00000393643.2_Missense_Mutation_p.L352R|WDR17_ENST00000508596.1_Missense_Mutation_p.L352R|WDR17_ENST00000507824.2_Missense_Mutation_p.L359R			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	376										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GGAGTTGGACTTTATGATATG	0.388																																																	0													285.0	277.0	280.0					4																	177052846		2203	4300	6503	SO:0001583	missense	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1127T>G	4.37:g.177052846T>G	ENSP00000280190:p.Leu376Arg		E7EQX0|Q0QD35	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L376R	ENST00000280190.4	37	c.1127	CCDS3825.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	25.9|25.9	4.681549|4.681549	0.88542|0.88542	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000505894|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|T;T;T	.|0.62105	.|0.09;0.1;0.05	5.45|5.45	5.45|5.45	0.79879|0.79879	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (2);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67496|0.67496	0.2899|0.2899	L|L	0.27053|0.27053	0.805|0.805	0.80722|0.80722	D|D	1|1	.|D;D	.|0.69078	.|0.997;0.997	.|P;D	.|0.64042	.|0.888;0.921	T|T	0.72057|0.72057	-0.4405|-0.4405	5|10	.|0.87932	.|D	.|0	-23.1148|-23.1148	15.8216|15.8216	0.78654|0.78654	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|352;376	.|E7EQX0;Q8IZU2	.|.;WDR17_HUMAN	V|R	125|352;352;376;359	.|ENSP00000422763:L352R;ENSP00000377258:L352R;ENSP00000280190:L376R	.|ENSP00000280190:L376R	F|L	+|+	1|2	0|0	WDR17|WDR17	177289840|177289840	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.438000|7.438000	0.80431|0.80431	2.199000|2.199000	0.70637|0.70637	0.533000|0.533000	0.62120|0.62120	TTT|CTT	WDR17	-	superfamily_WD40_repeat_dom	ENSG00000150627		0.388	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2	-	0.00	68	0	T			177052846	+1	tier1	-	no_errors	ENST00000280190	ensembl	human	known	74_37	missense	45.45	42	35	SNP	1.000	G
WNK1	65125	genome.wustl.edu	37	12	1005335	1005335	+	Silent	SNP	G	G	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:1005335G>T	ENST00000315939.6	+	24	6325	c.5682G>T	c.(5680-5682)gtG>gtT	p.V1894V	WNK1_ENST00000530271.2_Silent_p.V2392V|WNK1_ENST00000535572.1_Silent_p.V1646V|WNK1_ENST00000537687.1_Silent_p.V2154V|WNK1_ENST00000340908.4_Silent_p.V1487V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1894					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)	p.V2154V(1)|p.V1894V(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGTCCTCAGTGCTATCAAGTA	0.468																																					Colon(19;451 567 6672 12618 28860)												2	Substitution - coding silent(2)	lung(2)											86.0	85.0	85.0					12																	1005335		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.5682G>T	12.37:g.1005335G>T			A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.V2392	ENST00000315939.6	37	c.7176	CCDS8506.1	12																																																																																			WNK1	-	NULL	ENSG00000060237		0.468	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1		0.00	46	0	G	NM_018979		1005335	+1			no_errors	ENST00000530271	ensembl	human	known	74_37	silent	5.71	33	2	SNP	0.001	T
XKR4	114786	genome.wustl.edu	37	8	56015128	56015128	+	Missense_Mutation	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:56015128A>G	ENST00000327381.6	+	1	180	c.80A>G	c.(79-81)cAc>cGc	p.H27R		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	27						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AACTCGGACCACTCGGGCTCG	0.687																																																	0													26.0	27.0	27.0					8																	56015128		2203	4300	6503	SO:0001583	missense	0			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.80A>G	8.37:g.56015128A>G	ENSP00000328326:p.His27Arg		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.H27R	ENST00000327381.6	37	c.80	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	A	12.88	2.070562	0.36566	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.83837	-1.77	2.83	2.83	0.33086	.	1.349760	0.06062	U	0.658472	T	0.66819	0.2828	N	0.19112	0.55	0.26965	N	0.96573	P	0.43633	0.813	B	0.24394	0.053	T	0.60296	-0.7291	10	0.49607	T	0.09	-8.5456	8.841	0.35142	1.0:0.0:0.0:0.0	.	27	Q5GH76	XKR4_HUMAN	R	27	ENSP00000328326:H27R	ENSP00000328326:H27R	H	+	2	0	XKR4	56177682	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.185000	0.58330	1.177000	0.42855	0.449000	0.29647	CAC	XKR4	-	NULL	ENSG00000206579		0.687	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	-	0.00	21	0	A	NM_052898		56015128	+1	tier1	-	no_errors	ENST00000327381	ensembl	human	known	74_37	missense	17.86	23	5	SNP	1.000	G
XRCC6	2547	genome.wustl.edu	37	22	42057349	42057349	+	Missense_Mutation	SNP	G	G	A	rs61754572	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr22:42057349G>A	ENST00000359308.4	+	11	2192	c.1537G>A	c.(1537-1539)Gca>Aca	p.A513T	XRCC6_ENST00000402580.3_Missense_Mutation_p.A472T|XRCC6_ENST00000405878.1_Missense_Mutation_p.A513T|XRCC6_ENST00000428575.2_Missense_Mutation_p.A380T|XRCC6_ENST00000405506.1_Missense_Mutation_p.A463T|XRCC6_ENST00000360079.3_Missense_Mutation_p.A513T			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6	513					brain development (GO:0007420)|cellular hyperosmotic salinity response (GO:0071475)|cellular response to X-ray (GO:0071481)|DNA duplex unwinding (GO:0032508)|DNA ligation (GO:0006266)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|establishment of integrated proviral latency (GO:0075713)|innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytosol (GO:0005829)|Ku70:Ku80 complex (GO:0043564)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|telomeric DNA binding (GO:0042162)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CAAGGTTGAAGCAATGAATAA	0.468								Non-homologous end-joining																																									0								G	THR/ALA	0,4406		0,0,2203	129.0	134.0	132.0		1537	3.4	0.9	22	dbSNP_129	132	2,8598	2.2+/-6.3	0,2,4298	yes	missense	XRCC6	NM_001469.3	58	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	513/610	42057349	2,13004	2203	4300	6503	SO:0001583	missense	0			J04607	CCDS14021.1, CCDS74870.1, CCDS74871.1	22q13.2	2011-09-12	2008-07-31	2005-05-06	ENSG00000196419	ENSG00000196419			4055	protein-coding gene	gene with protein product	"""Ku autoantigen, 70kDa"""	152690	"""thyroid autoantigen 70kD (Ku antigen)"", ""thyroid autoantigen 70kDa (Ku antigen)"""	G22P1		9200330, 9223317	Standard	NM_001469		Approved	D22S731, D22S671, KU70, ML8	uc003bao.1	P12956	OTTHUMG00000151190	ENST00000359308.4:c.1537G>A	22.37:g.42057349G>A	ENSP00000352257:p.Ala513Thr		B1AHC8|Q6FG89|Q9UCQ2|Q9UCQ3	Missense_Mutation	SNP	pirsf_Ku70,pfam_Ku_N,pfam_Ku70/Ku80_beta-barrel_dom,pfam_Ku_C,pfam_SAP_dom,superfamily_SPOC_like_C_dom,smart_Ku70/Ku80_beta-barrel_dom,smart_SAP_dom,pfscan_SAP_dom,tigrfam_Ku70	p.A513T	ENST00000359308.4	37	c.1537	CCDS14021.1	22	.	.	.	.	.	.	.	.	.	.	G	11.72	1.723028	0.30503	0.0	2.33E-4	ENSG00000196419	ENST00000360079;ENST00000402580;ENST00000428575;ENST00000359308;ENST00000405878;ENST00000402409;ENST00000405506	T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9	5.51	3.41	0.39046	Spen Paralogue and Orthologue SPOC, C-terminal-like (1);Ku70/Ku80 C-terminal arm (2);	0.676161	0.16769	N	0.200280	T	0.40272	0.1110	M	0.70595	2.14	0.28258	N	0.924968	B;B;P;B	0.39044	0.155;0.044;0.656;0.093	B;B;B;B	0.40982	0.153;0.043;0.345;0.068	T	0.23368	-1.0190	10	0.16420	T	0.52	-0.8904	7.5586	0.27839	0.1379:0.2553:0.6068:0.0	rs61754572	463;513;472;513	B1AHC9;B1AHC7;B1AHC8;P12956	.;.;.;XRCC6_HUMAN	T	513;472;380;513;513;513;463	ENSP00000353192:A513T;ENSP00000384941:A472T;ENSP00000403679:A380T;ENSP00000352257:A513T;ENSP00000384257:A513T;ENSP00000384082:A463T	ENSP00000352257:A513T	A	+	1	0	XRCC6	40387295	0.997000	0.39634	0.895000	0.35142	0.998000	0.95712	1.795000	0.38784	0.675000	0.31264	0.650000	0.86243	GCA	XRCC6	-	pirsf_Ku70,pfam_Ku_C,superfamily_SPOC_like_C_dom,tigrfam_Ku70	ENSG00000196419		0.468	XRCC6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	XRCC6	HGNC	protein_coding	OTTHUMT00000321688.1	-	0.00	66	0	G	NM_001469		42057349	+1	tier1	rs61754572	no_errors	ENST00000359308	ensembl	human	known	74_37	missense	27.69	47	18	SNP	0.797	A
YAF2	10138	genome.wustl.edu	37	12	42629563	42629563	+	Intron	DEL	A	A	-	rs565109622		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr12:42629563delA	ENST00000534854.2	-	2	220				PPHLN1_ENST00000549190.1_5'Flank|YAF2_ENST00000555248.2_3'UTR|YAF2_ENST00000380790.4_Intron|YAF2_ENST00000541702.2_5'UTR|YAF2_ENST00000380788.3_Intron|YAF2_ENST00000327791.4_Intron|YAF2_ENST00000442791.3_Intron	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2						negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		ATGTACTGGTAAAAAAAAAAA	0.438																																																	0																																										SO:0001627	intron_variant	0			U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.152+1837T>-	12.37:g.42629563delA			A8K5P0|B4DFU3|G3V465|Q99710	RNA	DEL	-	NULL	ENST00000534854.2	37	NULL	CCDS31775.1	12																																																																																			YAF2	-	-	ENSG00000015153		0.438	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAF2	HGNC	protein_coding	OTTHUMT00000403781.1		0.00	16	0	A			42629563	-1	tier1		no_errors	ENST00000541702	ensembl	human	known	74_37	rna	14.81	23	4	DEL	0.986	-
ZC3H11A	9877	genome.wustl.edu	37	1	203769532	203769532	+	5'UTR	SNP	G	G	T	rs7540041	byFrequency	TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:203769532G>T	ENST00000545588.1	+	0	1070				ZC3H11A_ENST00000466470.1_Intron|ZC3H11A_ENST00000367214.1_Intron|ZC3H11A_ENST00000332127.4_Intron|ZBED6_ENST00000550078.1_Missense_Mutation_p.S961I|ZC3H11A_ENST00000367212.3_Intron	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A						poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TTGGTTCTGAGCTGGGATCCT	0.348																																																	0																																										SO:0001623	5_prime_UTR_variant	0				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.-2758G>T	1.37:g.203769532G>T			Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.S961I	ENST00000545588.1	37	c.2882	CCDS30978.1	1	.	.	.	.	.	.	.	.	.	.	G	13.39	2.223562	0.39300	.	.	ENSG00000257315	ENST00000550078	.	.	.	4.9	3.99	0.46301	.	.	.	.	.	T	0.29223	0.0727	N	0.12182	0.205	0.41865	P	0.009750999999999954	.	.	.	.	.	.	T	0.42716	-0.9435	5	0.87932	D	0	.	7.6353	0.28264	0.091:0.166:0.743:0.0	.	.	.	.	I	961	.	ENSP00000447879:S961I	S	+	2	0	ZBED6	202036155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.578000	0.36525	1.382000	0.46385	0.655000	0.94253	AGC	ZBED6	-	NULL	ENSG00000257315		0.348	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED6	HGNC	protein_coding	OTTHUMT00000087471.3	-	0.00	46	0	G	NM_014827		203769532	+1	tier1	-	no_errors	ENST00000550078	ensembl	human	known	74_37	missense	6.35	59	4	SNP	0.998	T
ZCCHC5	203430	genome.wustl.edu	37	X	77913151	77913151	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:77913151A>C	ENST00000321110.1	-	2	1062	c.767T>G	c.(766-768)gTt>gGt	p.V256G		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	256							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						ATACAGCTGAACCAGGAACTC	0.507																																																	0													28.0	26.0	27.0					X																	77913151		2203	4300	6503	SO:0001583	missense	0			AK096184	CCDS14440.1	Xq13.3	2008-02-05			ENSG00000179300	ENSG00000179300		"""Zinc fingers, CCHC domain containing"""	22997	protein-coding gene	gene with protein product						15716091, 16093683	Standard	NM_152694		Approved	FLJ38865, Mar3, Mart3, ZHC5	uc004edc.1	Q8N8U3	OTTHUMG00000021892	ENST00000321110.1:c.767T>G	X.37:g.77913151A>C	ENSP00000316794:p.Val256Gly		B2RMZ0|Q5JQE9	Missense_Mutation	SNP	pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.V256G	ENST00000321110.1	37	c.767	CCDS14440.1	X	.	.	.	.	.	.	.	.	.	.	A	5.943	0.358062	0.11239	.	.	ENSG00000179300	ENST00000321110	T	0.19394	2.15	3.29	2.08	0.27032	.	0.284099	0.18219	U	0.147960	T	0.16300	0.0392	L	0.54323	1.7	0.09310	N	0.999992	B	0.30021	0.265	B	0.29716	0.106	T	0.19976	-1.0289	10	0.21014	T	0.42	.	4.9549	0.14035	0.7277:0.0:0.0:0.2723	.	256	Q8N8U3	ZCHC5_HUMAN	G	256	ENSP00000316794:V256G	ENSP00000316794:V256G	V	-	2	0	ZCCHC5	77799807	0.003000	0.15002	0.011000	0.14972	0.016000	0.09150	0.494000	0.22467	0.452000	0.26830	0.417000	0.27973	GTT	ZCCHC5	-	NULL	ENSG00000179300		0.507	ZCCHC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC5	HGNC	protein_coding	OTTHUMT00000057319.1	-	0.00	17	0	A	NM_152694		77913151	-1	tier1	-	no_errors	ENST00000321110	ensembl	human	known	74_37	missense	50.00	29	29	SNP	0.011	C
ZFAND4	93550	genome.wustl.edu	37	10	46143749	46143749	+	Missense_Mutation	SNP	G	G	A	rs146833659		TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:46143749G>A	ENST00000344646.5	-	5	777	c.562C>T	c.(562-564)Cgt>Tgt	p.R188C	ZFAND4_ENST00000374366.3_Missense_Mutation_p.R114C|ZFAND4_ENST00000374371.2_Missense_Mutation_p.R188C|ZFAND4_ENST00000374370.1_5'UTR	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	188							zinc ion binding (GO:0008270)	p.R188C(1)									TACCTCATACGATGTTCTCCT	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)						A	CYS/ARG,CYS/ARG	0,4406		0,0,2203	77.0	73.0	74.0		562,562	-5.1	0.0	10	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANUBL1	NM_001128324.1,NM_174890.2	180,180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	188/728,188/728	46143749	1,13005	2203	4300	6503	SO:0001583	missense	0			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.562C>T	10.37:g.46143749G>A	ENSP00000339484:p.Arg188Cys		A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Znf_AN1,smart_Ubiquitin_dom,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin	p.R188C	ENST00000344646.5	37	c.562	CCDS7214.1	10	.	.	.	.	.	.	.	.	.	.	g	8.451	0.853030	0.17106	0.0	1.16E-4	ENSG00000172671	ENST00000344646;ENST00000374371;ENST00000374366;ENST00000374376;ENST00000374370	T;T;T	0.51574	1.88;0.7;1.88	4.05	-5.07	0.02938	.	3.608530	0.01285	N	0.009872	T	0.31389	0.0795	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18903	-1.0322	10	0.46703	T	0.11	-24.5088	5.8799	0.18850	0.5348:0.0:0.3213:0.1438	.	188;188	Q5VVY4;Q86XD8	.;ANUB1_HUMAN	C	188;188;114;188;70	ENSP00000339484:R188C;ENSP00000363491:R188C;ENSP00000363486:R114C	ENSP00000339484:R188C	R	-	1	0	ANUBL1	45463755	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.610000	0.05629	-1.128000	0.02922	-1.969000	0.00466	CGT	ZFAND4	-	NULL	ENSG00000172671		0.383	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1	-	0.00	33	0	G	NM_174890		46143749	-1	tier1	rs146833659	no_errors	ENST00000344646	ensembl	human	known	74_37	missense	31.25	22	10	SNP	0.000	A
ZFHX4	79776	genome.wustl.edu	37	8	77690559	77690559	+	Missense_Mutation	SNP	A	A	C			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:77690559A>C	ENST00000521891.2	+	4	3657	c.3209A>C	c.(3208-3210)aAg>aCg	p.K1070T	ZFHX4_ENST00000518282.1_Missense_Mutation_p.K1044T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.K1044T|ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Missense_Mutation_p.K1044T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1044					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)			CGTTCGGTGAAGCATCAGCAG	0.512										HNSCC(33;0.089)																																							0													151.0	161.0	157.0					8																	77690559		2067	4206	6273	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.3209A>C	8.37:g.77690559A>C	ENSP00000430497:p.Lys1070Thr		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.K1070T	ENST00000521891.2	37	c.3209	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	A	12.69	2.014155	0.35511	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56103	0.48;0.48;0.48;0.48	5.22	5.22	0.72569	Zinc finger, C2H2-like (1);Zinc finger, U1-type (1);	0.000000	0.46758	U	0.000279	T	0.65790	0.2725	M	0.62723	1.935	0.58432	D	0.999997	D;D;D	0.67145	0.993;0.976;0.996	P;P;P	0.58721	0.703;0.674;0.844	T	0.68435	-0.5409	10	0.56958	D	0.05	.	15.5609	0.76244	1.0:0.0:0.0:0.0	.	1044;1044;1070	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	T	1070;1070;1044;1044;1044	ENSP00000430497:K1070T;ENSP00000399605:K1044T;ENSP00000050961:K1044T;ENSP00000430848:K1044T	ENSP00000050961:K1044T	K	+	2	0	ZFHX4	77853114	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.995000	0.70631	2.320000	0.78422	0.528000	0.53228	AAG	ZFHX4	-	smart_Znf_U1,smart_Znf_C2H2-like	ENSG00000091656		0.512	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	-	0.00	48	0	A	NM_024721		77690559	+1	tier1	-	no_errors	ENST00000521891	ensembl	human	known	74_37	missense	16.87	69	14	SNP	1.000	C
ZMAT1	84460	genome.wustl.edu	37	X	101138901	101138901	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:101138901T>G	ENST00000372782.3	-	7	1545	c.1498A>C	c.(1498-1500)Agc>Cgc	p.S500R	ZMAT1_ENST00000458570.1_Missense_Mutation_p.S329R|ZMAT1_ENST00000540921.1_Missense_Mutation_p.S500R|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	500						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TGATTAAGGCTCAAGGGTACT	0.418																																																	0													110.0	93.0	99.0					X																	101138901		2202	4300	6502	SO:0001583	missense	0			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1498A>C	X.37:g.101138901T>G	ENSP00000361868:p.Ser500Arg		Q8NDS3|Q96JN6	Missense_Mutation	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.S500R	ENST00000372782.3	37	c.1498	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	T	16.41	3.116351	0.56505	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.24538	2.3;2.3;1.85	4.37	4.37	0.52481	.	0.307999	0.32918	N	0.005487	T	0.37265	0.0997	M	0.61703	1.905	0.27526	N	0.951239	D	0.59357	0.985	P	0.58077	0.832	T	0.29731	-1.0002	10	0.72032	D	0.01	-4.5924	5.6273	0.17490	0.0:0.1188:0.0:0.8812	.	500	Q5H9K5	ZMAT1_HUMAN	R	500;500;329	ENSP00000361868:S500R;ENSP00000437529:S500R;ENSP00000413044:S329R	ENSP00000361868:S500R	S	-	1	0	ZMAT1	101025557	1.000000	0.71417	0.969000	0.41365	0.988000	0.76386	1.598000	0.36740	1.913000	0.55393	0.486000	0.48141	AGC	ZMAT1	-	NULL	ENSG00000166432		0.418	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	-	0.00	28	0	T			101138901	-1	tier1	-	no_errors	ENST00000372782	ensembl	human	known	74_37	missense	45.61	31	26	SNP	0.978	G
ZMAT1	84460	genome.wustl.edu	37	X	101138908	101138908	+	Silent	SNP	T	T	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chrX:101138908T>A	ENST00000372782.3	-	7	1538	c.1491A>T	c.(1489-1491)gtA>gtT	p.V497V	ZMAT1_ENST00000458570.1_Silent_p.V326V|ZMAT1_ENST00000540921.1_Silent_p.V497V|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	497						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GGCTCAAGGGTACTGGTTTTT	0.413																																																	0													109.0	93.0	98.0					X																	101138908		2202	4300	6502	SO:0001819	synonymous_variant	0			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1491A>T	X.37:g.101138908T>A			Q8NDS3|Q96JN6	Silent	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.V497	ENST00000372782.3	37	c.1491	CCDS35348.1	X																																																																																			ZMAT1	-	NULL	ENSG00000166432		0.413	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	-	0.00	27	0	T			101138908	-1	tier1	-	no_errors	ENST00000372782	ensembl	human	known	74_37	silent	46.43	30	26	SNP	0.000	A
ZMYND11	10771	genome.wustl.edu	37	10	283566	283566	+	Silent	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr10:283566G>A	ENST00000397962.3	+	6	986	c.558G>A	c.(556-558)ccG>ccA	p.P186P	ZMYND11_ENST00000381584.1_Silent_p.P169P|ZMYND11_ENST00000397959.3_Intron|ZMYND11_ENST00000381607.4_Silent_p.P92P|ZMYND11_ENST00000403354.1_Silent_p.P132P|ZMYND11_ENST00000535374.1_Silent_p.P29P|ZMYND11_ENST00000381602.4_Silent_p.P146P|ZMYND11_ENST00000545619.1_Silent_p.P92P|ZMYND11_ENST00000381591.1_Silent_p.P186P|ZMYND11_ENST00000309776.4_Silent_p.P146P|ZMYND11_ENST00000558098.2_Silent_p.P186P|ZMYND11_ENST00000509513.2_Silent_p.P186P|ZMYND11_ENST00000602682.1_Intron|ZMYND11_ENST00000381604.4_Silent_p.P146P|ZMYND11_ENST00000402736.1_Intron			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	186	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		ATAAACACCCGATGTACAGGA	0.398																																																	0													114.0	110.0	111.0					10																	283566		2203	4300	6503	SO:0001819	synonymous_variant	0			X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.558G>A	10.37:g.283566G>A			B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Silent	SNP	pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain	p.P186	ENST00000397962.3	37	c.558	CCDS7052.2	10																																																																																			ZMYND11	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain	ENSG00000015171		0.398	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND11	HGNC	protein_coding	OTTHUMT00000046382.4	-	0.00	33	0	G	NM_006624		283566	+1	tier1	-	no_errors	ENST00000381591	ensembl	human	known	74_37	silent	24.44	34	11	SNP	0.258	A
ZNF208	7757	genome.wustl.edu	37	19	22155862	22155862	+	Silent	SNP	A	A	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:22155862A>G	ENST00000397126.4	-	4	2122	c.1974T>C	c.(1972-1974)atT>atC	p.I658I	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	658					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCCAGCATGAATTGCCTTAT	0.383																																																	0													71.0	77.0	75.0					19																	22155862		2086	4242	6328	SO:0001819	synonymous_variant	0			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.1974T>C	19.37:g.22155862A>G				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I658	ENST00000397126.4	37	c.1974	CCDS54240.1	19																																																																																			ZNF208	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000160321		0.383	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	HGNC	protein_coding	OTTHUMT00000464302.1	-	0.00	73	0	A	NM_007153		22155862	-1	tier1	-	no_errors	ENST00000397126	ensembl	human	novel	74_37	silent	90.57	5	48	SNP	0.126	G
ZNF112	7771	genome.wustl.edu	37	19	44832455	44832455	+	Nonsense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:44832455G>A	ENST00000337401.4	-	5	1961	c.1873C>T	c.(1873-1875)Caa>Taa	p.Q625*	ZNF112_ENST00000354340.4_Nonsense_Mutation_p.Q619*|ZNF112_ENST00000536500.1_Nonsense_Mutation_p.Q642*	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	625					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q625E(1)|p.Q619E(1)									TGATGGCCTTGAAGGTGTGAA	0.458																																																	2	Substitution - Missense(2)	breast(2)											137.0	134.0	135.0					19																	44832455		2203	4300	6503	SO:0001587	stop_gained	0			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1873C>T	19.37:g.44832455G>A	ENSP00000337081:p.Gln625*		A4FU53|Q9HCA7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q642*	ENST00000337401.4	37	c.1924	CCDS54276.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.568377	0.96540	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	.	.	.	5.0	2.76	0.32466	.	0.000000	0.32918	N	0.005496	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-22.0701	3.2904	0.06947	0.0947:0.2822:0.466:0.1571	.	.	.	.	X	625;625;619;642;624	.	ENSP00000253426:Q624X	Q	-	1	0	ZNF285	49524295	0.000000	0.05858	1.000000	0.80357	0.999000	0.98932	-0.556000	0.05992	2.484000	0.83849	0.655000	0.94253	CAA	ZNF112	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000062370		0.458	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF112	HGNC	protein_coding	OTTHUMT00000460744.1	-	0.00	69	0	G	NM_013380		44832455	-1	tier1	-	no_errors	ENST00000536500	ensembl	human	known	74_37	nonsense	26.09	85	30	SNP	0.442	A
ZNF329	79673	genome.wustl.edu	37	19	58640556	58640556	+	Silent	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:58640556G>A	ENST00000598312.1	-	4	548	c.315C>T	c.(313-315)ccC>ccT	p.P105P	ZNF329_ENST00000358067.4_Silent_p.P105P	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TGGGTAAGGCGGGGTCACAAT	0.453																																																	0													113.0	112.0	112.0					19																	58640556		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022648	CCDS12972.1	19q13.43	2013-01-08				ENSG00000181894		"""Zinc fingers, C2H2-type"""	14209	protein-coding gene	gene with protein product							Standard	XM_006723381		Approved	FLJ12586	uc002qrn.3	Q86UD4		ENST00000598312.1:c.315C>T	19.37:g.58640556G>A			B3KR32|Q9H9R7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P105	ENST00000598312.1	37	c.315	CCDS12972.1	19																																																																																			ZNF329	-	NULL	ENSG00000181894		0.453	ZNF329-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF329	HGNC	protein_coding	OTTHUMT00000466724.1	-	0.00	28	0	G	NM_024620		58640556	-1	tier1	-	no_errors	ENST00000358067	ensembl	human	known	74_37	silent	24.42	65	21	SNP	0.002	A
ZNF451	26036	genome.wustl.edu	37	6	56966830	56966830	+	Intron	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr6:56966830G>A	ENST00000370706.4	+	3	430				ZNF451_ENST00000357489.3_Intron|ZNF451_ENST00000491832.2_Intron|ZNF451_ENST00000370708.4_Missense_Mutation_p.R539Q|ZNF451_ENST00000370702.1_Intron	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TACAAACCTCGAAACCACCCC	0.383																																																	0																																										SO:0001627	intron_variant	0			AB011148	CCDS4960.1, CCDS43477.1, CCDS59026.1	6p12.1	2012-08-08			ENSG00000112200	ENSG00000112200		"""Zinc fingers, C2H2-type"""	21091	protein-coding gene	gene with protein product		615708				9628581	Standard	NM_001031623		Approved	KIAA0576, COASTER, dJ417I1.1, KIAA1702	uc003pdm.2	Q9Y4E5	OTTHUMG00000014916	ENST00000370706.4:c.186+2891G>A	6.37:g.56966830G>A			Q5VVE9|Q5VVF1|Q86YE4|Q8N380|Q8TD15|Q9C0G1|Q9NQM1	Missense_Mutation	SNP	pfam_LAP2alpha	p.R539Q	ENST00000370706.4	37	c.1616	CCDS43477.1	6	.	.	.	.	.	.	.	.	.	.	G	17.36	3.368844	0.61624	.	.	ENSG00000112200	ENST00000370708	T	0.72282	-0.64	4.4	4.4	0.53042	.	.	.	.	.	T	0.72653	0.3487	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	T	0.66929	-0.5799	8	0.20519	T	0.43	.	12.8482	0.57842	0.0:0.0:1.0:0.0	.	539	Q9Y4E5-4	.	Q	539	ENSP00000359742:R539Q	ENSP00000359742:R539Q	R	+	2	0	ZNF451	57074789	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.358000	0.44134	2.735000	0.93741	0.650000	0.86243	CGA	ZNF451	-	NULL	ENSG00000112200		0.383	ZNF451-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF451	HGNC	protein_coding	OTTHUMT00000041035.2	-	0.00	22	0	G	NM_015555		56966830	+1	tier1	-	no_errors	ENST00000370708	ensembl	human	known	74_37	missense	40.00	21	14	SNP	1.000	A
ZNF469	84627	genome.wustl.edu	37	16	88496484	88496484	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr16:88496484C>T	ENST00000437464.1	+	1	2606	c.2606C>T	c.(2605-2607)gCg>gTg	p.A869V	ZNF469_ENST00000565624.1_Missense_Mutation_p.A869V	NM_001127464.1	NP_001120936.1	Q96JG9	ZN469_HUMAN	zinc finger protein 469	869					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(6)|kidney(3)|large_intestine(1)|skin(6)	20						GACGTCTTCGCGGACGAGGAG	0.642																																																	0													7.0	10.0	9.0					16																	88496484		683	1580	2263	SO:0001583	missense	0			AB058761	CCDS45544.1	16q24	2010-08-04				ENSG00000225614		"""Zinc fingers, C2H2-type"""	23216	protein-coding gene	gene with protein product		612078				11347906	Standard	NM_001127464		Approved	KIAA1858	uc002fku.2	Q96JG9		ENST00000437464.1:c.2606C>T	16.37:g.88496484C>T	ENSP00000402343:p.Ala869Val			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A869V	ENST00000437464.1	37	c.2606	CCDS45544.1	16	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817246	0.32145	.	.	ENSG00000225614	ENST00000437464	T	0.08102	3.13	5.0	4.03	0.46877	.	.	.	.	.	T	0.04452	0.0122	N	0.04508	-0.205	0.09310	N	1	D	0.58620	0.983	B	0.40285	0.325	T	0.39663	-0.9603	9	0.33940	T	0.23	.	12.5021	0.55962	0.0:0.9161:0.0:0.0839	.	869	Q96JG9	ZN469_HUMAN	V	869	ENSP00000402343:A869V	ENSP00000402343:A869V	A	+	2	0	ZNF469	87023985	0.001000	0.12720	0.003000	0.11579	0.295000	0.27426	0.945000	0.29056	1.082000	0.41137	0.467000	0.42956	GCG	ZNF469	-	NULL	ENSG00000225614		0.642	ZNF469-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF469	HGNC	protein_coding		-	0.00	21	0	C	NG_012236		88496484	+1	tier1	-	no_errors	ENST00000437464	ensembl	human	known	74_37	missense	25.00	21	7	SNP	0.026	T
ZNF512B	57473	genome.wustl.edu	37	20	62598760	62598760	+	Missense_Mutation	SNP	C	C	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr20:62598760C>T	ENST00000450537.1	-	3	298	c.238G>A	c.(238-240)Gag>Aag	p.E80K	ZNF512B_ENST00000217130.3_Missense_Mutation_p.E80K|ZNF512B_ENST00000369888.1_Missense_Mutation_p.E80K			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	80					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCTGGTTCTCGGCTTTTGGC	0.617																																																	0													138.0	133.0	135.0					20																	62598760		2203	4300	6503	SO:0001583	missense	0			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.238G>A	20.37:g.62598760C>T	ENSP00000393795:p.Glu80Lys		Q08AK9|Q9ULM4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E80K	ENST00000450537.1	37	c.238	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014238	0.75161	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	T;T;T	0.39056	1.1;1.1;1.1	5.37	4.42	0.53409	.	0.056264	0.64402	D	0.000001	T	0.50394	0.1613	L	0.32530	0.975	0.39438	D	0.967208	D	0.76494	0.999	D	0.63192	0.912	T	0.56541	-0.7962	10	0.87932	D	0	-41.1837	13.7784	0.63069	0.1537:0.8463:0.0:0.0	.	80	Q96KM6	Z512B_HUMAN	K	80	ENSP00000358904:E80K;ENSP00000393795:E80K;ENSP00000217130:E80K	ENSP00000217130:E80K	E	-	1	0	ZNF512B	62069204	1.000000	0.71417	0.990000	0.47175	0.302000	0.27658	6.698000	0.74608	1.241000	0.43820	-0.314000	0.08810	GAG	ZNF512B	-	NULL	ENSG00000196700		0.617	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF512B	HGNC	protein_coding	OTTHUMT00000080246.1	-	0.00	67	0	C	NM_020713		62598760	-1	tier1	-	no_errors	ENST00000217130	ensembl	human	known	74_37	missense	22.03	92	26	SNP	0.995	T
ZNF561	93134	genome.wustl.edu	37	19	9721115	9721115	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:9721115G>A	ENST00000302851.3	-	6	1585	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000495503.1_5'Flank|ZNF561_ENST00000354661.4_Missense_Mutation_p.R272C|ZNF561_ENST00000424629.1_Missense_Mutation_p.R339C	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	408					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						TGTTTACTACGACGGGAAGAA	0.403																																																	0													131.0	126.0	127.0					19																	9721115		2203	4300	6503	SO:0001583	missense	0			AK074787	CCDS12216.2	19p13.2	2013-09-20			ENSG00000171469	ENSG00000171469		"""Zinc fingers, C2H2-type"", ""-"""	28684	protein-coding gene	gene with protein product						12477932	Standard	NM_152289		Approved	MGC45408	uc002mlu.3	Q8N587	OTTHUMG00000157054	ENST00000302851.3:c.1222C>T	19.37:g.9721115G>A	ENSP00000303915:p.Arg408Cys		B4E2Q8|Q6PJS0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R408C	ENST00000302851.3	37	c.1222	CCDS12216.2	19	.	.	.	.	.	.	.	.	.	.	G	7.630	0.678709	0.14841	.	.	ENSG00000171469	ENST00000424629;ENST00000302851;ENST00000354661	T;T;T	0.07444	3.19;3.19;3.19	1.1	1.1	0.20463	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08670	0.0215	L	0.45581	1.43	0.09310	N	1	B	0.15141	0.012	B	0.12837	0.008	T	0.27331	-1.0077	9	0.87932	D	0	.	8.1044	0.30877	0.0:0.0:1.0:0.0	.	408	Q8N587	ZN561_HUMAN	C	339;408;272	ENSP00000393074:R339C;ENSP00000303915:R408C;ENSP00000346687:R272C	ENSP00000303915:R408C	R	-	1	0	ZNF561	9582115	0.035000	0.19736	0.001000	0.08648	0.084000	0.17831	1.763000	0.38461	0.905000	0.36596	0.298000	0.19748	CGT	ZNF561	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000171469		0.403	ZNF561-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF561	HGNC	protein_coding	OTTHUMT00000347272.2	-	0.00	48	0	G	NM_152289		9721115	-1	tier1	-	no_errors	ENST00000302851	ensembl	human	known	74_37	missense	77.59	13	45	SNP	0.003	A
ZNF577	84765	genome.wustl.edu	37	19	52383627	52383628	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:52383627_52383628insT	ENST00000301399.5	-	4	373_374	c.8_9insA	c.(7-9)aatfs	p.N3fs	ZNF577_ENST00000412216.1_Frame_Shift_Ins_p.N3fs|ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Frame_Shift_Ins_p.N3fs|ZNF577_ENST00000420592.1_Frame_Shift_Ins_p.N3fs	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	3					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		caatcgtggcatttttcatgtg	0.421																																																	0																																										SO:0001589	frameshift_variant	0			AL832871	CCDS12842.2, CCDS46160.1	19q13.41	2013-09-20			ENSG00000161551	ENSG00000161551		"""Zinc fingers, C2H2-type"", ""-"""	28673	protein-coding gene	gene with protein product						12477932	Standard	NM_032679		Approved	MGC4400	uc010yde.2	Q9BSK1	OTTHUMG00000157045	ENST00000301399.5:c.9dupA	19.37:g.52383632_52383632dupT	ENSP00000301399:p.Asn3fs		A8K0B4|A8K6Z7|C9JFB9	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N3fs	ENST00000301399.5	37	c.9_8	CCDS12842.2	19																																																																																			ZNF577	-	NULL	ENSG00000161551		0.421	ZNF577-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF577	HGNC	protein_coding	OTTHUMT00000347243.1		0.00	19	0	-	NM_032679		52383628	-1	tier1		no_errors	ENST00000301399	ensembl	human	known	74_37	frame_shift_ins	20.00	28	7	INS	0.000:0.000	T
ZNF585B	92285	genome.wustl.edu	37	19	37681019	37681019	+	Missense_Mutation	SNP	A	A	T			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:37681019A>T	ENST00000532828.2	-	3	357	c.106T>A	c.(106-108)Ttc>Atc	p.F36I	ZNF585B_ENST00000531805.1_5'UTR|ZNF585B_ENST00000586320.1_Missense_Mutation_p.F21I|CTC-454I21.3_ENST00000585860.2_Missense_Mutation_p.F36I|ZNF585B_ENST00000312908.5_5'Flank|ZNF585B_ENST00000527838.1_Missense_Mutation_p.F36I	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	36	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCTGCTGAAATCGATAGCC	0.512																																					Melanoma(93;882 1454 18863 28917 48427)												0													105.0	90.0	95.0					19																	37681019		2203	4300	6503	SO:0001583	missense	0			AK027834	CCDS12500.1	19q13.13	2013-01-08				ENSG00000245680		"""Zinc fingers, C2H2-type"", ""-"""	30948	protein-coding gene	gene with protein product						12477932	Standard	NM_152279		Approved	FLJ14928, SZFP41	uc002ofq.3	Q52M93		ENST00000532828.2:c.106T>A	19.37:g.37681019A>T	ENSP00000433773:p.Phe36Ile		Q8IZD3|Q96JW6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F36I	ENST00000532828.2	37	c.106	CCDS12500.1	19	.	.	.	.	.	.	.	.	.	.	A	17.93	3.510096	0.64522	.	.	ENSG00000245680	ENST00000532828;ENST00000527838	T;T	0.14640	2.49;2.49	3.11	2.08	0.27032	Krueppel-associated box (4);	0.000000	0.36815	N	0.002388	T	0.46367	0.1389	H	0.97682	4.055	0.80722	D	1	D	0.56287	0.975	D	0.76071	0.987	T	0.45542	-0.9254	10	0.87932	D	0	.	6.2802	0.21003	0.8688:0.0:0.1312:0.0	.	36	Q52M93	Z585B_HUMAN	I	36	ENSP00000433773:F36I;ENSP00000435268:F36I	ENSP00000435268:F36I	F	-	1	0	ZNF585B	42372859	0.992000	0.36948	0.997000	0.53966	0.780000	0.44128	2.306000	0.43673	0.403000	0.25479	0.397000	0.26171	TTC	ZNF585B	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000245680		0.512	ZNF585B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF585B	HGNC	protein_coding	OTTHUMT00000388272.2	-	0.00	50	0	A	NM_152279		37681019	-1	tier1	-	no_errors	ENST00000532828	ensembl	human	known	74_37	missense	18.02	91	20	SNP	0.990	T
ZNF648	127665	genome.wustl.edu	37	1	182026619	182026619	+	Missense_Mutation	SNP	G	G	A			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr1:182026619G>A	ENST00000339948.3	-	2	734	c.527C>T	c.(526-528)gCg>gTg	p.A176V		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	176					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						ACTTTTGTGCGCACAGAGATA	0.567																																					NSCLC(71;908 1374 5429 20458 35642)												0													67.0	70.0	69.0					1																	182026619		2203	4300	6503	SO:0001583	missense	0			AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.527C>T	1.37:g.182026619G>A	ENSP00000344129:p.Ala176Val		B2RP16	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A176V	ENST00000339948.3	37	c.527	CCDS30952.1	1	.	.	.	.	.	.	.	.	.	.	G	8.668	0.902208	0.17760	.	.	ENSG00000179930	ENST00000339948	T	0.07444	3.19	2.71	-0.448	0.12230	.	.	.	.	.	T	0.04770	0.0129	L	0.27053	0.805	0.09310	N	1	B	0.21147	0.052	B	0.10450	0.005	T	0.44757	-0.9307	9	0.22109	T	0.4	.	3.5459	0.07828	0.2642:0.0:0.5393:0.1964	.	176	Q5T619	ZN648_HUMAN	V	176	ENSP00000344129:A176V	ENSP00000344129:A176V	A	-	2	0	ZNF648	180293242	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.960000	0.03849	-0.086000	0.12550	-0.182000	0.12963	GCG	ZNF648	-	NULL	ENSG00000179930		0.567	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF648	HGNC	protein_coding	OTTHUMT00000090794.1	-	0.00	30	0	G	XM_060597		182026619	-1	tier1	-	no_errors	ENST00000339948	ensembl	human	novel	74_37	missense	37.25	32	19	SNP	0.000	A
ZNF703	80139	genome.wustl.edu	37	8	37556150	37556150	+	Nonsense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr8:37556150T>G	ENST00000331569.4	+	2	1960	c.1731T>G	c.(1729-1731)taT>taG	p.Y577*		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	577					adherens junction assembly (GO:0034333)|cellular response to estradiol stimulus (GO:0071392)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			ACGCGCTGTATGGACAGAGAC	0.637																																																	0													36.0	32.0	33.0					8																	37556150		2203	4300	6503	SO:0001587	stop_gained	0			AK024361	CCDS6094.1	8p12	2008-05-02				ENSG00000183779			25883	protein-coding gene	gene with protein product						15897872	Standard	NM_025069		Approved	FLJ14299, ZNF503L	uc003xjy.1	Q9H7S9		ENST00000331569.4:c.1731T>G	8.37:g.37556150T>G	ENSP00000332325:p.Tyr577*		Q5XG76	Nonsense_Mutation	SNP	pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.Y577*	ENST00000331569.4	37	c.1731	CCDS6094.1	8	.	.	.	.	.	.	.	.	.	.	T	37	6.610498	0.97705	.	.	ENSG00000183779	ENST00000331569;ENST00000397235	.	.	.	3.22	-0.329	0.12686	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.1078	9.4866	0.38933	0.0:0.3336:0.0:0.6664	.	.	.	.	X	577;150	.	ENSP00000332325:Y577X	Y	+	3	2	ZNF703	37675308	0.870000	0.30015	0.997000	0.53966	0.892000	0.51952	-0.039000	0.12124	-0.220000	0.09988	0.254000	0.18369	TAT	ZNF703	-	NULL	ENSG00000183779		0.637	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF703	HGNC	protein_coding	OTTHUMT00000376683.2	-	0.00	33	0	T	NM_025069		37556150	+1	tier1	-	no_errors	ENST00000331569	ensembl	human	known	74_37	nonsense	29.79	33	14	SNP	0.997	G
ZSCAN5A	79149	genome.wustl.edu	37	19	56736039	56736039	+	Missense_Mutation	SNP	T	T	G			TCGA-IG-A4QS-01A-11D-A27G-09	TCGA-IG-A4QS-10A-01D-A27G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	a8380cd5-4750-4dc4-a922-41d57d2ecf1d	1f4ab858-e433-48b0-8984-b2ac05962303	g.chr19:56736039T>G	ENST00000587340.1	-	4	1072	c.377A>C	c.(376-378)aAg>aCg	p.K126T	ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.K126T|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.K126T|ZSCAN5A_ENST00000254165.3_Intron			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	126	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CACCCATTTCTTGGGTCTTCT	0.587																																																	0													26.0	27.0	26.0					19																	56736039		2145	4211	6356	SO:0001583	missense	0			AK098700	CCDS12941.1	19q13.43	2013-01-08	2008-06-10	2008-06-10	ENSG00000131848	ENSG00000131848		"""-"", ""Zinc fingers, C2H2-type"""	23710	protein-coding gene	gene with protein product			"""zinc finger protein 495"", ""zinc finger and SCAN domain containing 5"""	ZNF495, ZSCAN5			Standard	NM_024303		Approved	MGC4161	uc002qmq.3	Q9BUG6		ENST00000587340.1:c.377A>C	19.37:g.56736039T>G	ENSP00000467631:p.Lys126Thr		B4DX98|Q49A73|Q53F04|Q8N7B3	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.K126T	ENST00000587340.1	37	c.377	CCDS12941.1	19	.	.	.	.	.	.	.	.	.	.	T	14.87	2.665362	0.47677	.	.	ENSG00000131848	ENST00000391713	T	0.06687	3.27	2.27	-1.45	0.08828	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (1);	.	.	.	.	T	0.21590	0.0520	M	0.80422	2.495	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.11179	-1.0598	9	0.45353	T	0.12	.	2.1786	0.03868	0.2385:0.3133:0.0:0.4482	.	126	Q9BUG6	ZSA5A_HUMAN	T	126	ENSP00000375593:K126T	ENSP00000375593:K126T	K	-	2	0	ZSCAN5A	61427851	0.001000	0.12720	0.012000	0.15200	0.637000	0.38172	0.329000	0.19698	-0.460000	0.07003	0.402000	0.26972	AAG	ZSCAN5A	-	superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN	ENSG00000131848		0.587	ZSCAN5A-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ZSCAN5A	HGNC	protein_coding	OTTHUMT00000458110.1	-	0.00	148	0	T	NM_024303		56736039	-1	tier1	-	no_errors	ENST00000391713	ensembl	human	known	74_37	missense	15.53	136	25	SNP	0.017	G
