#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
ABCB6	10058	genome.wustl.edu	37	2	220082512	220082512	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:220082512C>A	ENST00000265316.3	-	2	883	c.567G>T	c.(565-567)tgG>tgT	p.W189C	ABCB6_ENST00000439002.2_Intron	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	189					brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)	p.W189*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCGCAGCACCCACAGGCTAA	0.478																																																	1	Substitution - Nonsense(1)	endometrium(1)											99.0	107.0	104.0					2																	220082512		2203	4300	6503	SO:0001583	missense	0			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.567G>T	2.37:g.220082512C>A	ENSP00000265316:p.Trp189Cys		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom	p.W189C	ENST00000265316.3	37	c.567	CCDS2436.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.5|28.5	4.922388|4.922388	0.92319|0.92319	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000427013|ENST00000265316	.|D	.|0.89552	.|-2.53	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.059066	.|0.64402	.|N	.|0.000001	D|D	0.93713|0.93713	0.7991|0.7991	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.69142	.|0.962	D|D	0.93666|0.93666	0.6986|0.6986	5|10	.|0.87932	.|D	.|0	-13.4364|-13.4364	20.1169|20.1169	0.97940|0.97940	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|189	.|Q9NP58	.|ABCB6_HUMAN	V|C	167|189	.|ENSP00000265316:W189C	.|ENSP00000265316:W189C	G|W	-|-	2|3	0|0	ABCB6|ABCB6	219790756|219790756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.445000|7.445000	0.80570|0.80570	2.835000|2.835000	0.97688|0.97688	0.591000|0.591000	0.81541|0.81541	GGG|TGG	ABCB6	-	NULL	ENSG00000115657		0.478	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	HGNC	protein_coding	OTTHUMT00000256820.2		0.00	62	0	C	NM_005689		220082512	-1			no_errors	ENST00000265316	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	A
ACBD4	79777	genome.wustl.edu	37	17	43216519	43216519	+	Silent	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:43216519C>T	ENST00000376955.4	+	9	1068	c.771C>T	c.(769-771)ccC>ccT	p.P257P	ACBD4_ENST00000321854.8_Missense_Mutation_p.P261S|ACBD4_ENST00000398322.3_Missense_Mutation_p.P261S|ACBD4_ENST00000431281.1_Silent_p.P273P|ACBD4_ENST00000592162.1_Intron|ACBD4_ENST00000586346.1_Silent_p.P273P|ACBD4_ENST00000591859.1_Silent_p.P273P	NM_001135707.1	NP_001129179.1	Q8NC06	ACBD4_HUMAN	acyl-CoA binding domain containing 4	257							fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			kidney(1)|lung(3)|ovary(1)	5						GCCCCGGCCCCCTGAGCAGGT	0.592																																																	0													31.0	40.0	37.0					17																	43216519		2014	4180	6194	SO:0001819	synonymous_variant	0			BC029164	CCDS42348.1, CCDS45710.1, CCDS45711.1	17q21.31	2012-10-02	2010-04-30		ENSG00000181513	ENSG00000181513			23337	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 4"""				Standard	NM_001135704		Approved	FLJ13322	uc002iie.3	Q8NC06	OTTHUMG00000180111	ENST00000376955.4:c.771C>T	17.37:g.43216519C>T			D3DX64|Q8IUT1|Q9H8Q4	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.P261S	ENST00000376955.4	37	c.781	CCDS45711.1	17	.	.	.	.	.	.	.	.	.	.	C	8.080	0.772196	0.16051	.	.	ENSG00000181513	ENST00000398322	T	0.10382	2.88	5.94	2.59	0.31030	.	0.319507	0.29486	N	0.012006	T	0.07954	0.0199	.	.	.	0.34375	D	0.692441	B	0.20988	0.05	B	0.21917	0.037	T	0.12734	-1.0536	9	0.36615	T	0.2	.	9.053	0.36387	0.0:0.5197:0.4014:0.0789	.	261	Q8NC06-2	.	S	261	ENSP00000381367:P261S	ENSP00000381367:P261S	P	+	1	0	ACBD4	40572045	0.000000	0.05858	0.155000	0.22561	0.050000	0.14768	0.185000	0.16958	1.512000	0.48834	0.561000	0.74099	CCT	ACBD4	-	NULL	ENSG00000181513		0.592	ACBD4-006	KNOWN	basic|CCDS	protein_coding	ACBD4	HGNC	protein_coding	OTTHUMT00000449816.1	-	0.00	100	0	C	NM_024722		43216519	+1	tier1	-	no_errors	ENST00000321854	ensembl	human	known	74_37	missense	23.61	55	17	SNP	0.219	T
ADAMTS19	171019	genome.wustl.edu	37	5	129039941	129039941	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr5:129039941delA	ENST00000274487.4	+	21	3296	c.3151delA	c.(3151-3153)aagfs	p.K1051fs	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	1051	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)		GTGTTCAGTCAAGTGTGGCAA	0.433																																																	0													216.0	198.0	204.0					5																	129039941		2203	4300	6503	SO:0001589	frameshift_variant	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.3151delA	5.37:g.129039941delA	ENSP00000274487:p.Lys1051fs			Frame_Shift_Del	DEL	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.K1051fs	ENST00000274487.4	37	c.3151	CCDS4146.1	5																																																																																			ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000145808		0.433	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2		0.00	60	0	A	NM_133638		129039941	+1	tier1		no_errors	ENST00000274487	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	0.999	-
ADAMTSL1	92949	genome.wustl.edu	37	9	18721596	18721596	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr9:18721596C>G	ENST00000380548.4	+	15	2278	c.1939C>G	c.(1939-1941)Ctg>Gtg	p.L647V	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.L647V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	647	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TGAGGAGAACCTGTGCGTGAC	0.597																																																	0													87.0	84.0	85.0					9																	18721596		2203	4300	6503	SO:0001583	missense	0			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.1939C>G	9.37:g.18721596C>G	ENSP00000369921:p.Leu647Val		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.L647V	ENST00000380548.4	37	c.1939	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497103	0.64186	.	.	ENSG00000178031	ENST00000380548;ENST00000276935	T;T	0.61510	0.1;0.1	5.86	4.94	0.65067	.	1.523590	0.08080	U	1.000000	T	0.72423	0.3458	M	0.84326	2.69	0.80722	D	1	D	0.69078	0.997	P	0.55824	0.785	T	0.63060	-0.6721	10	0.30078	T	0.28	.	10.084	0.42406	0.0:0.8289:0.0:0.1711	.	647	Q8N6G6	ATL1_HUMAN	V	647	ENSP00000369921:L647V;ENSP00000276935:L647V	ENSP00000276935:L647V	L	+	1	2	ADAMTSL1	18711596	0.983000	0.35010	1.000000	0.80357	0.994000	0.84299	1.257000	0.32932	1.395000	0.46643	0.650000	0.86243	CTG	ADAMTSL1	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000178031		0.597	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	-	0.00	69	0	C			18721596	+1	tier1	-	no_errors	ENST00000380548	ensembl	human	novel	74_37	missense	33.33	16	8	SNP	1.000	G
AHSA1	10598	genome.wustl.edu	37	14	77924544	77924544	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr14:77924544G>T	ENST00000216479.3	+	1	172	c.12G>T	c.(10-12)tgG>tgT	p.W4C	VIPAS39_ENST00000448935.2_5'Flank|VIPAS39_ENST00000556412.1_5'Flank|AHSA1_ENST00000555517.1_Missense_Mutation_p.W4C|VIPAS39_ENST00000327028.4_5'Flank|VIPAS39_ENST00000553888.1_5'Flank|VIPAS39_ENST00000557658.1_5'Flank|AHSA1_ENST00000535854.2_Missense_Mutation_p.W4C|VIPAS39_ENST00000343765.2_5'Flank|VIPAS39_ENST00000556909.1_5'Flank	NM_012111.2	NP_036243.1	O95433	AHSA1_HUMAN	AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)	4					positive regulation of ATPase activity (GO:0032781)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGGCCAAGTGGGGTGAGGGAG	0.687																																																	0													17.0	12.0	14.0					14																	77924544		2055	4024	6079	SO:0001583	missense	0			AJ243310	CCDS9863.1	14q	2008-02-05	2003-04-04	2003-04-11		ENSG00000100591			1189	protein-coding gene	gene with protein product		608466	"""chromosome 14 open reading frame 3"""	C14orf3			Standard	NM_012111		Approved	p38	uc001xtw.3	O95433		ENST00000216479.3:c.12G>T	14.37:g.77924544G>T	ENSP00000216479:p.Trp4Cys		B2R9L2|B4DUR9|Q96IL6|Q9P060	Missense_Mutation	SNP	pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N	p.W4C	ENST00000216479.3	37	c.12	CCDS9863.1	14	.	.	.	.	.	.	.	.	.	.	G	26.1	4.706898	0.89018	.	.	ENSG00000100591	ENST00000216479;ENST00000535854;ENST00000555517	.	.	.	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.86117	0.5856	M	0.92738	3.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.89664	0.3879	9	0.72032	D	0.01	-5.7921	17.8844	0.88849	0.0:0.0:1.0:0.0	.	4;4	B4DUR9;O95433	.;AHSA1_HUMAN	C	4	.	ENSP00000216479:W4C	W	+	3	0	AHSA1	76994297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.191000	0.94940	2.471000	0.83476	0.655000	0.94253	TGG	AHSA1	-	NULL	ENSG00000100591		0.687	AHSA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AHSA1	HGNC	protein_coding	OTTHUMT00000414017.1	-	0.00	71	0	G	NM_012111		77924544	+1	tier1	-	no_errors	ENST00000216479	ensembl	human	known	74_37	missense	8.89	41	4	SNP	1.000	T
AIM1L	55057	genome.wustl.edu	37	1	26670651	26670653	+	5'Flank	DEL	TCC	TCC	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	TCC	TCC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:26670651_26670653delTCC	ENST00000308182.5	-	0	0				AIM1L_ENST00000527815.1_5'Flank			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like								carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GTTCTCTGGTtcctcctcctcct	0.65																																																	0																																										SO:0001631	upstream_gene_variant	0					1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490		1.37:g.26670660_26670662delTCC	Exception_encountered		B2RNG3|Q5T137|Q5T150	In_Frame_Del	DEL	superfamily_PDZ	p.E178in_frame_del	ENST00000308182.5	37	c.533_531		1																																																																																			AIM1L	-	NULL	ENSG00000176092		0.650	AIM1L-201	KNOWN	basic	protein_coding	AIM1L	HGNC	protein_coding			0.00	48	0	TCC	NM_001039775.2		26670653	-1	tier1		no_errors	ENST00000374207	ensembl	human	known	74_37	in_frame_del	9.09	30	3	DEL	0.998:0.998:0.968	-
AKNA	80709	genome.wustl.edu	37	9	117138828	117138828	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr9:117138828G>A	ENST00000307564.4	-	3	1420	c.1259C>T	c.(1258-1260)aCg>aTg	p.T420M	AKNA_ENST00000374088.3_Missense_Mutation_p.T420M|AKNA_ENST00000374075.5_Missense_Mutation_p.T339M|AKNA_ENST00000312033.3_Missense_Mutation_p.T420M|AKNA_ENST00000223791.3_De_novo_Start_OutOfFrame	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	420					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)	p.T420M(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GGCAGGAGGCGTGTCCTTTGC	0.592																																																	1	Substitution - Missense(1)	breast(1)											77.0	76.0	76.0					9																	117138828		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.1259C>T	9.37:g.117138828G>A	ENSP00000303769:p.Thr420Met		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.T420M	ENST00000307564.4	37	c.1259	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	G	1.187	-0.636408	0.03557	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000374075;ENST00000312033;ENST00000394574	T;T;T;T	0.31510	2.71;2.71;2.71;1.49	4.36	2.52	0.30459	.	0.991744	0.08188	N	0.984416	T	0.16300	0.0392	N	0.08118	0	0.09310	N	1	B;B;B	0.22276	0.019;0.066;0.067	B;B;B	0.11329	0.006;0.003;0.006	T	0.24693	-1.0153	10	0.45353	T	0.12	0.238	7.1889	0.25814	0.2835:0.0:0.7165:0.0	.	420;420;339	Q7Z591-6;Q7Z591;Q7Z591-2	.;AKNA_HUMAN;.	M	420;261;420;339;420;420	ENSP00000303769:T420M;ENSP00000363201:T420M;ENSP00000363188:T339M;ENSP00000309222:T420M	ENSP00000303769:T420M	T	-	2	0	AKNA	116178649	0.002000	0.14202	0.002000	0.10522	0.003000	0.03518	1.197000	0.32211	0.472000	0.27344	-0.254000	0.11334	ACG	AKNA	-	NULL	ENSG00000106948		0.592	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2		0.00	72	0	G	NM_030767		117138828	-1			no_errors	ENST00000307564	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.000	A
ALDH3B1	221	genome.wustl.edu	37	11	67786319	67786319	+	Silent	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:67786319G>A	ENST00000539229.1	+	5	464	c.348G>A	c.(346-348)ccG>ccA	p.P116P	ALDH3B1_ENST00000434449.1_3'UTR|ALDH3B1_ENST00000316367.6_Silent_p.P116P|ALDH3B1_ENST00000342456.6_Silent_p.P80P|ALDH3B1_ENST00000007633.8_Silent_p.P116P	NM_001161473.1	NP_001154945.1	P43353	AL3B1_HUMAN	aldehyde dehydrogenase 3 family, member B1	117					alcohol metabolic process (GO:0006066)|aldehyde catabolic process (GO:0046185)|cellular response to oxidative stress (GO:0034599)|ethanol catabolic process (GO:0006068)|lipid metabolic process (GO:0006629)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)										GGAACTATCCGCTGAACCTGA	0.677																																																	0													23.0	25.0	24.0					11																	67786319		2165	4251	6416	SO:0001819	synonymous_variant	0			U10868	CCDS73335.1, CCDS73336.1	11q13	2010-04-27			ENSG00000006534	ENSG00000006534	1.2.1.5	"""Aldehyde dehydrogenases"""	410	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase 7"", ""aldehyde dehydrogenase 3B1"""	600466		ALDH7		9161417, 7828891	Standard	NM_000694		Approved		uc001ona.3	P43353	OTTHUMG00000154910	ENST00000539229.1:c.348G>A	11.37:g.67786319G>A			A3FMP9|Q53XL5|Q8N515|Q96CK8	Silent	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	p.P116	ENST00000539229.1	37	c.348		11																																																																																			ALDH3B1	-	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P)	ENSG00000006534		0.677	ALDH3B1-204	KNOWN	basic|appris_principal	protein_coding	ALDH3B1	HGNC	protein_coding			0.00	41	0	G	NM_000694		67786319	+1			no_errors	ENST00000007633	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.000	A
AMPH	273	genome.wustl.edu	37	7	38468072	38468073	+	Intron	DNP	GC	GC	TT			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr7:38468072_38468073GC>TT	ENST00000356264.2	-	14	1398				AMPH_ENST00000428293.2_Intron|AMPH_ENST00000325590.5_Intron|AMPH_ENST00000471913.1_5'UTR	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin						endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TGATAAAACAGCCTGATTTTTA	0.366																																																	0																																										SO:0001627	intron_variant	0				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1183_1183delinsTT	7.37:g.38468072_38468073delinsTT			A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	RNA	SNP	-	NULL	ENST00000356264.2	37	NULL	CCDS5456.1	7																																																																																			AMPH	-	-	ENSG00000078053		0.366	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	-	0.00	62|61	0	G|C	NM_001635		38468072|38468073	-1	tier1	-	no_errors	ENST00000471913	ensembl	human	known	74_37	rna	40.00	12	8	SNP	0.003|0.006	T
ANKRD28	23243	genome.wustl.edu	37	3	15753656	15753656	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:15753656G>T	ENST00000399451.2	-	11	1541	c.1174C>A	c.(1174-1176)Ctt>Att	p.L392I	ANKRD28_ENST00000383777.1_Missense_Mutation_p.L425I|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	392						nucleus (GO:0005634)				breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CCTGAAGAAAGAAGTTTTCTG	0.403																																																	0													46.0	45.0	45.0					3																	15753656		1820	4074	5894	SO:0001583	missense	0			AY367056	CCDS46769.1, CCDS74908.1	3p25.1	2013-01-10			ENSG00000206560	ENSG00000206560		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	29024	protein-coding gene	gene with protein product	"""phosphatase interactor targeting K protein"", ""protein phosphatase 6 ankyrin repeat subunit A"", ""protein phosphatase 1, regulatory subunit 65"""	611122				9205841	Standard	NM_015199		Approved	KIAA0379, PITK, PP6-ARS-A, PPP1R65	uc003caj.1	O15084	OTTHUMG00000155379	ENST00000399451.2:c.1174C>A	3.37:g.15753656G>T	ENSP00000382379:p.Leu392Ile		B4DES5|Q1WWL4|Q29RW6|Q3B857|Q6ULS0|Q6ZT57	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L425I	ENST00000399451.2	37	c.1273	CCDS46769.1	3	.	.	.	.	.	.	.	.	.	.	G	24.2	4.501689	0.85176	.	.	ENSG00000206560	ENST00000399451;ENST00000383777;ENST00000412318	T;T;T	0.69685	2.7;-0.42;2.7	5.46	5.46	0.80206	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.68888	0.3050	L	0.37507	1.11	0.80722	D	1	D;D;D	0.64830	0.994;0.989;0.975	P;P;P	0.59487	0.858;0.721;0.777	T	0.61387	-0.7073	10	0.02654	T	1	.	19.2755	0.94030	0.0:0.0:1.0:0.0	.	425;422;392	O15084-1;O15084-4;O15084	.;.;ANR28_HUMAN	I	392;425;392	ENSP00000382379:L392I;ENSP00000373287:L425I;ENSP00000397341:L392I	ENSP00000373287:L425I	L	-	1	0	ANKRD28	15728660	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	7.939000	0.87685	2.724000	0.93272	0.563000	0.77884	CTT	ANKRD28	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000206560		0.403	ANKRD28-003	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	ANKRD28	HGNC	protein_coding	OTTHUMT00000339758.1		0.00	67	0	G	NM_015199		15753656	-1			no_errors	ENST00000383777	ensembl	human	known	74_37	missense	7.69	24	2	SNP	1.000	T
ANKRD30B	374860	genome.wustl.edu	37	18	14852390	14852390	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr18:14852390C>A	ENST00000358984.4	+	36	4270	c.4090C>A	c.(4090-4092)Caa>Aaa	p.Q1364K		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1364										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACGTATAGATCAATATGAAAA	0.303																																																	0													6.0	5.0	5.0					18																	14852390		666	1467	2133	SO:0001583	missense	0			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.4090C>A	18.37:g.14852390C>A	ENSP00000351875:p.Gln1364Lys		B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q1364K	ENST00000358984.4	37	c.4090	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	C	4.167	0.029523	0.08054	.	.	ENSG00000180777	ENST00000358984;ENST00000320584;ENST00000277669	T	0.14144	2.53	1.39	0.41	0.16387	.	.	.	.	.	T	0.10809	0.0264	L	0.42632	1.34	0.26359	N	0.977083	B;B	0.19817	0.008;0.039	B;B	0.15870	0.002;0.014	T	0.27773	-1.0064	9	0.44086	T	0.13	.	5.5965	0.17329	0.5746:0.4254:0.0:0.0	.	1449;1364	Q9BXX2;F8WAG3	AN30B_HUMAN;.	K	1364;758;784	ENSP00000351875:Q1364K	ENSP00000277669:Q784K	Q	+	1	0	ANKRD30B	14842390	1.000000	0.71417	0.554000	0.28268	0.058000	0.15608	1.728000	0.38105	0.120000	0.18254	0.173000	0.16961	CAA	ANKRD30B	-	NULL	ENSG00000180777		0.303	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1		0.00	50	0	C	NM_001145029		14852390	+1			no_errors	ENST00000358984	ensembl	human	known	74_37	missense	8.00	23	2	SNP	0.485	A
APOH	350	genome.wustl.edu	37	17	64219888	64219888	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:64219888delA	ENST00000205948.6	-	4	380	c.343delT	c.(343-345)tatfs	p.Y115fs		NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)	115	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation, intrinsic pathway (GO:0007597)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood coagulation (GO:0030195)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of myeloid cell apoptotic process (GO:0033033)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|plasminogen activation (GO:0031639)|positive regulation of blood coagulation (GO:0030194)|positive regulation of lipoprotein lipase activity (GO:0051006)|regulation of fibrinolysis (GO:0051917)|triglyceride metabolic process (GO:0006641)|triglyceride transport (GO:0034197)	cell surface (GO:0009986)|chylomicron (GO:0042627)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|phospholipid binding (GO:0005543)			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			CCATTCAGATAAAACCTGCAA	0.433																																					Melanoma(155;624 1882 16869 48804 51309)												0													76.0	77.0	77.0					17																	64219888		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS11663.1	17q24.2	2013-01-24				ENSG00000091583		"""Apolipoproteins"""	616	protein-coding gene	gene with protein product	"""beta-2-glycoprotein I"""	138700		B2G1		1582254	Standard	NM_000042		Approved	BG	uc002jfn.4	P02749		ENST00000205948.6:c.343delT	17.37:g.64219888delA	ENSP00000205948:p.Tyr115fs		B2R9M3|Q9UCN7	Frame_Shift_Del	DEL	pfam_Sushi_SCR_CCP,pfam_Sushi_2,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Y115fs	ENST00000205948.6	37	c.343	CCDS11663.1	17																																																																																			APOH	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000091583		0.433	APOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOH	HGNC	protein_coding	OTTHUMT00000446926.1		0.00	56	0	A	NM_000042		64219888	-1	tier1		no_errors	ENST00000205948	ensembl	human	known	74_37	frame_shift_del	5.71	33	2	DEL	0.995	-
AQR	9716	genome.wustl.edu	37	15	35178780	35178780	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr15:35178780G>T	ENST00000156471.5	-	25	2989	c.2764C>A	c.(2764-2766)Cca>Aca	p.P922T		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	922					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GCATCTCCTGGAACCCCTAGA	0.363																																																	0													117.0	120.0	119.0					15																	35178780		1818	4087	5905	SO:0001583	missense	0			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2764C>A	15.37:g.35178780G>T	ENSP00000156471:p.Pro922Thr		A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.P922T	ENST00000156471.5	37	c.2764	CCDS42013.1	15	.	.	.	.	.	.	.	.	.	.	G	18.15	3.558863	0.65538	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.94000	-3.33	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.91064	0.7188	L	0.40543	1.245	0.80722	D	1	B	0.15719	0.014	B	0.20184	0.028	D	0.86843	0.2018	10	0.52906	T	0.07	-12.0595	19.3689	0.94477	0.0:0.0:1.0:0.0	.	922	O60306	AQR_HUMAN	T	922	ENSP00000156471:P922T	ENSP00000156471:P922T	P	-	1	0	AQR	32966072	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.752000	0.98900	2.652000	0.90054	0.491000	0.48974	CCA	AQR	-	superfamily_P-loop_NTPase	ENSG00000021776		0.363	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQR	HGNC	protein_coding	OTTHUMT00000417526.2	-	0.00	65	0	G	NM_014691		35178780	-1	tier1	-	no_errors	ENST00000156471	ensembl	human	known	74_37	missense	47.37	10	9	SNP	1.000	T
ARAP2	116984	genome.wustl.edu	37	4	36230984	36230984	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr4:36230984T>C	ENST00000303965.4	-	2	614	c.125A>G	c.(124-126)aAt>aGt	p.N42S		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	42	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				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						CAGGCTGTCATTTATTGCTGC	0.373																																																	0													67.0	69.0	69.0					4																	36230984		2203	4300	6503	SO:0001583	missense	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.125A>G	4.37:g.36230984T>C	ENSP00000302895:p.Asn42Ser		Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	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.N42S	ENST00000303965.4	37	c.125	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	T	17.68	3.449393	0.63178	.	.	ENSG00000047365	ENST00000303965;ENST00000506189	T;T	0.44881	0.91;0.91	5.8	5.8	0.92144	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.267762	0.35870	N	0.002926	T	0.49167	0.1541	L	0.39692	1.235	0.35746	D	0.819064	D	0.56746	0.977	P	0.55011	0.766	T	0.55673	-0.8104	10	0.33141	T	0.24	.	16.1878	0.81964	0.0:0.0:0.0:1.0	.	42	Q8WZ64	ARAP2_HUMAN	S	42	ENSP00000302895:N42S;ENSP00000422731:N42S	ENSP00000302895:N42S	N	-	2	0	ARAP2	35907379	1.000000	0.71417	0.997000	0.53966	0.523000	0.34469	2.880000	0.48530	2.216000	0.71823	0.529000	0.55759	AAT	ARAP2	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	ENSG00000047365		0.373	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	-	0.00	52	0	T	NM_015230		36230984	-1	tier1	-	no_errors	ENST00000303965	ensembl	human	known	74_37	missense	52.94	8	9	SNP	1.000	C
ARHGAP42	143872	genome.wustl.edu	37	11	100792317	100792317	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:100792317G>T	ENST00000298815.8	+	6	582	c.579G>T	c.(577-579)aaG>aaT	p.K193N	ARHGAP42_ENST00000524892.2_Missense_Mutation_p.K159N	NM_152432.2	NP_689645.2	A6NI28	RHG42_HUMAN	Rho GTPase activating protein 42	193	BAR.				signal transduction (GO:0007165)	intracellular (GO:0005622)	GTPase activator activity (GO:0005096)			endometrium(3)|skin(2)	5						AAAAAAAGAAGTTTGAATTTG	0.303																																																	0													45.0	37.0	39.0					11																	100792317		692	1588	2280	SO:0001583	missense	0					11q22.1	2012-04-19			ENSG00000165895	ENSG00000165895		"""Rho GTPase activating proteins"""	26545	protein-coding gene	gene with protein product		615936				18954304	Standard	NM_152432		Approved	FLJ32810, GRAF3	uc001pge.2	A6NI28	OTTHUMG00000167530	ENST00000298815.8:c.579G>T	11.37:g.100792317G>T	ENSP00000298815:p.Lys193Asn		Q96M56	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.K193N	ENST00000298815.8	37	c.579		11	.	.	.	.	.	.	.	.	.	.	G	17.17	3.321812	0.60634	.	.	ENSG00000165895	ENST00000524892;ENST00000298815;ENST00000531183	T;T;T	0.04758	3.56;3.56;3.56	5.53	4.42	0.53409	IRSp53/MIM homology domain (IMD) (1);	0.000000	0.64402	D	0.000014	T	0.22003	0.0530	M	0.83483	2.645	0.58432	D	0.999998	D	0.76494	0.999	D	0.76071	0.987	T	0.00293	-1.1841	10	0.72032	D	0.01	.	13.007	0.58710	0.1235:0.0:0.8765:0.0	.	193	A6NI28	RHG42_HUMAN	N	159;193;49	ENSP00000431776:K159N;ENSP00000298815:K193N;ENSP00000434304:K49N	ENSP00000298815:K193N	K	+	3	2	ARHGAP42	100297527	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.921000	0.28718	2.591000	0.87537	0.563000	0.77884	AAG	ARHGAP42	-	NULL	ENSG00000165895		0.303	ARHGAP42-201	KNOWN	basic|appris_principal	protein_coding	ARHGAP42	HGNC	protein_coding		-	0.00	95	0	G	NM_152432		100792317	+1	tier1	-	no_errors	ENST00000298815	ensembl	human	known	74_37	missense	5.56	68	4	SNP	1.000	T
ARHGEF1	9138	genome.wustl.edu	37	19	42406492	42406492	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:42406492G>A	ENST00000354532.3	+	16	1631	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M	ARHGEF1_ENST00000378152.4_Missense_Mutation_p.V477M|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.V510M|ARHGEF1_ENST00000347545.4_Missense_Mutation_p.V462M|ARHGEF1_ENST00000599846.1_Missense_Mutation_p.V551M	NM_004706.3	NP_004697.2	Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	495	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				cell proliferation (GO:0008283)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of axonogenesis (GO:0050770)|Rho protein signal transduction (GO:0007266)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|poly(A) RNA binding (GO:0044822)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GATCGGAGACGTGCTGCTGGC	0.647																																																	0													61.0	57.0	58.0					19																	42406492		2203	4300	6503	SO:0001583	missense	0			U64105	CCDS12590.1, CCDS12591.1, CCDS12592.1	19q13.13	2014-06-19			ENSG00000076928	ENSG00000076928		"""Rho guanine nucleotide exchange factors"""	681	protein-coding gene	gene with protein product		601855				8810315, 9135076	Standard	NM_004706		Approved	P115-RHOGEF, SUB1.5, LBCL2	uc002osa.3	Q92888	OTTHUMG00000182679	ENST00000354532.3:c.1483G>A	19.37:g.42406492G>A	ENSP00000346532:p.Val495Met		O00513|Q8N4J4|Q96BF4|Q96F17|Q9BSB1	Missense_Mutation	SNP	pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.V510M	ENST00000354532.3	37	c.1528	CCDS12591.1	19	.	.	.	.	.	.	.	.	.	.	G	16.39	3.108719	0.56291	.	.	ENSG00000076928	ENST00000354532;ENST00000347545;ENST00000337665;ENST00000378152	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	4.25	4.25	0.50352	Dbl homology (DH) domain (5);	0.250049	0.33272	N	0.005081	T	0.69726	0.3143	L	0.31294	0.92	0.31883	N	0.618257	P;D;D;D;P	0.89917	0.661;1.0;1.0;1.0;0.796	B;D;D;D;B	0.76575	0.387;0.973;0.97;0.988;0.31	T	0.72427	-0.4297	10	0.46703	T	0.11	-27.5557	10.6247	0.45500	0.0:0.1961:0.8039:0.0	.	154;477;510;462;495	Q49AN3;Q6NX52;Q92888-3;Q92888-2;Q92888	.;.;.;.;ARHG1_HUMAN	M	495;462;510;477	ENSP00000346532:V495M;ENSP00000344429:V462M;ENSP00000337261:V510M;ENSP00000367394:V477M	ENSP00000337261:V510M	V	+	1	0	ARHGEF1	47098332	0.001000	0.12720	0.999000	0.59377	0.924000	0.55760	0.553000	0.23391	2.090000	0.63153	0.456000	0.33151	GTG	ARHGEF1	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000076928		0.647	ARHGEF1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF1	HGNC	protein_coding	OTTHUMT00000463360.1	-	0.00	49	0	G	NM_199002		42406492	+1	tier1	-	no_errors	ENST00000337665	ensembl	human	known	74_37	missense	62.50	3	5	SNP	0.998	A
ATR	545	genome.wustl.edu	37	3	142172056	142172056	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:142172056G>T	ENST00000350721.4	-	46	7796	c.7675C>A	c.(7675-7677)Cat>Aat	p.H2559N	ATR_ENST00000383101.3_Missense_Mutation_p.H2495N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2559	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AGAGGATCATGTAGAAAAGTC	0.348								Other conserved DNA damage response genes																																									0													97.0	91.0	93.0					3																	142172056		2203	4300	6503	SO:0001583	missense	0			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7675C>A	3.37:g.142172056G>T	ENSP00000343741:p.His2559Asn		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom	p.H2559N	ENST00000350721.4	37	c.7675	CCDS3124.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.436414|4.436414	0.83885|0.83885	.|.	.|.	ENSG00000175054|ENSG00000175054	ENST00000350721;ENST00000383101|ENST00000513291	D;D|.	0.81499|.	-1.5;-1.5|.	5.0|5.0	5.0|5.0	0.66597|0.66597	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82545|0.82545	0.5060|0.5060	M|M	0.85945|0.85945	2.785|2.785	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.72338|.	0.977|.	D|D	0.84963|0.84963	0.0878|0.0878	10|5	0.87932|.	D|.	0|.	-17.4066|-17.4066	18.2999|18.2999	0.90160|0.90160	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	2559|.	Q13535|.	ATR_HUMAN|.	N|K	2559;2495|405	ENSP00000343741:H2559N;ENSP00000372581:H2495N|.	ENSP00000343741:H2559N|.	H|T	-|-	1|2	0|0	ATR|ATR	143654746|143654746	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.733000|9.733000	0.98818|0.98818	2.320000|2.320000	0.78422|0.78422	0.591000|0.591000	0.81541|0.81541	CAT|ACA	ATR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000175054		0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	HGNC	protein_coding	OTTHUMT00000353995.2		0.00	50	0	G	NM_001184		142172056	-1			no_errors	ENST00000350721	ensembl	human	known	74_37	missense	10.71	25	3	SNP	1.000	T
BBS9	27241	genome.wustl.edu	37	7	33423379	33423379	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr7:33423379G>A	ENST00000242067.6	+	18	2412	c.1891G>A	c.(1891-1893)Gat>Aat	p.D631N	BBS9_ENST00000355070.2_Missense_Mutation_p.D626N|BBS9_ENST00000350941.3_Missense_Mutation_p.D591N|BBS9_ENST00000354265.4_Missense_Mutation_p.D596N|BBS9_ENST00000396127.2_Missense_Mutation_p.D596N	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	631					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GGGAGTCAAAGATTTTGCATG	0.348									Bardet-Biedl syndrome																																								0													72.0	70.0	71.0					7																	33423379		2201	4299	6500	SO:0001583	missense	0	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1891G>A	7.37:g.33423379G>A	ENSP00000242067:p.Asp631Asn		E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Missense_Mutation	SNP	NULL	p.D631N	ENST00000242067.6	37	c.1891	CCDS43566.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.188872|5.188872	0.94923|0.94923	.|.	.|.	ENSG00000122507|ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132|ENST00000434373	T;T;T;T;T|.	0.14022|.	2.54;2.54;2.54;2.54;2.54|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70701|0.70701	0.3254|0.3254	L|L	0.46947|0.46947	1.48|1.48	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.63046|.	0.992;0.992;0.992;0.992;0.961|.	D;D;D;D;P|.	0.66979|.	0.948;0.948;0.948;0.948;0.835|.	T|T	0.63945|0.63945	-0.6522|-0.6522	10|5	0.28530|.	T|.	0.3|.	-23.6471|-23.6471	20.6397|20.6397	0.99537|0.99537	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	631;591;626;596;631|.	Q3SYG4-3;Q3SYG4-2;E9PDC9;Q3SYG4-4;Q3SYG4|.	.;.;.;.;PTHB1_HUMAN|.	N|K	631;591;596;626;596;631|197	ENSP00000242067:D631N;ENSP00000313122:D591N;ENSP00000379433:D596N;ENSP00000347182:D626N;ENSP00000346214:D596N|.	ENSP00000242067:D631N|.	D|R	+|+	1|2	0|0	BBS9|BBS9	33389904|33389904	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.191000|9.191000	0.94940|0.94940	2.880000|2.880000	0.98712|0.98712	0.650000|0.650000	0.86243|0.86243	GAT|AGA	BBS9	-	NULL	ENSG00000122507		0.348	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	-	0.00	98	0	G			33423379	+1	tier1	-	no_errors	ENST00000242067	ensembl	human	known	74_37	missense	10.94	57	7	SNP	1.000	A
BDNF	627	genome.wustl.edu	37	11	27679009	27679011	+	3'UTR	DEL	TGT	TGT	-	rs3838785|rs397693902	byFrequency	TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	TGT	TGT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:27679009_27679011delTGT	ENST00000525528.1	-	0	2194_2196				BDNF_ENST00000533246.1_3'UTR|BDNF_ENST00000395986.2_3'UTR|BDNF_ENST00000532997.1_3'UTR|BDNF_ENST00000439476.2_3'UTR|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000525950.1_3'UTR|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000533131.1_3'UTR|BDNF_ENST00000420794.1_3'UTR|BDNF_ENST00000395978.3_3'UTR|BDNF_ENST00000418212.1_3'UTR|BDNF_ENST00000395981.3_3'UTR|BDNF_ENST00000356660.4_3'UTR|BDNF-AS_ENST00000530313.1_RNA|BDNF_ENST00000530861.1_3'UTR|BDNF-AS_ENST00000500662.2_RNA|BDNF_ENST00000438929.1_3'UTR|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF_ENST00000314915.6_3'UTR|BDNF-AS_ENST00000532965.1_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000395983.3_3'UTR|BDNF_ENST00000395980.2_3'UTR	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor						axon extension (GO:0048675)|axon guidance (GO:0007411)|axon target recognition (GO:0007412)|behavioral fear response (GO:0001662)|chronic inflammatory response (GO:0002544)|circadian rhythm (GO:0007623)|dendrite development (GO:0016358)|dendrite extension (GO:0097484)|feeding behavior (GO:0007631)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glutamate secretion (GO:0014047)|inner ear development (GO:0048839)|learning or memory (GO:0007611)|mechanoreceptor differentiation (GO:0042490)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|nerve development (GO:0021675)|nervous system development (GO:0007399)|neuron recognition (GO:0008038)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of synapse assembly (GO:0051965)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of retinal cell programmed cell death (GO:0046668)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|response to anesthetic (GO:0072347)|response to fluoxetine (GO:0014076)|response to hormone (GO:0009725)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to vitamin A (GO:0033189)|taste bud development (GO:0061193)|ureteric bud development (GO:0001657)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	growth factor activity (GO:0008083)			breast(1)|large_intestine(3)|lung(2)	6						TGTGTGTGTGTGTTTTTTTTCTG	0.271																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AB038670	CCDS7865.1, CCDS7866.1, CCDS44558.1, CCDS41628.1	11p14.1	2014-01-30			ENSG00000176697	ENSG00000176697		"""Endogenous ligands"""	1033	protein-coding gene	gene with protein product	"""neurotrophin"""	113505				2236018, 1889806, 17942328, 17493809	Standard	NM_170731		Approved		uc009yje.3	P23560	OTTHUMG00000178797	ENST00000525528.1:c.*359ACA>-	11.37:g.27679009_27679011delTGT			A7LA85|A7LA92|D3DQZ2|Q598Q1|Q6DN19|Q6YNR2|Q6YNR3|Q9BYY7|Q9UC24	RNA	DEL	-	NULL	ENST00000525528.1	37	NULL	CCDS7866.1	11																																																																																			BDNF	-	-	ENSG00000176697		0.271	BDNF-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BDNF	HGNC	protein_coding	OTTHUMT00000388135.1		0.00	12	0	TGT	NM_170735		27679011	-1	tier1		no_errors	ENST00000584049	ensembl	human	known	74_37	rna	33.33	4	2	DEL	0.021:0.000:0.000	-
BRAF	673	genome.wustl.edu	37	7	140481412	140481412	+	Nonsense_Mutation	SNP	C	C	A	rs121913353		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr7:140481412C>A	ENST00000288602.6	-	11	1456	c.1396G>T	c.(1396-1398)Gga>Tga	p.G466*		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	466	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (in melanoma). {ECO:0000269|PubMed:12068308}.|G -> E (in melanoma). {ECO:0000269|PubMed:12068308}.|G -> V (in LNCR). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12460919}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G466R(3)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CCAAATGATCCAGATCCAATT	0.378		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	3	Substitution - Missense(3)	skin(3)											171.0	147.0	155.0					7																	140481412		2203	4300	6503	SO:0001587	stop_gained	0	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1396G>T	7.37:g.140481412C>A	ENSP00000288602:p.Gly466*		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.G466*	ENST00000288602.6	37	c.1396	CCDS5863.1	7	.	.	.	.	.	.	.	.	.	.	C	40	8.265574	0.98732	.	.	ENSG00000157764	ENST00000288602	.	.	.	5.62	5.62	0.85841	.	0.100477	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.8428	0.88720	0.0:1.0:0.0:0.0	.	.	.	.	X	466	.	ENSP00000288602:G466X	G	-	1	0	BRAF	140127881	1.000000	0.71417	0.925000	0.36789	0.988000	0.76386	7.818000	0.86416	2.637000	0.89404	0.585000	0.79938	GGA	BRAF	-	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	ENSG00000157764		0.378	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAF	HGNC	protein_coding	OTTHUMT00000348886.1		0.00	65	0	C	NM_004333		140481412	-1			no_errors	ENST00000288602	ensembl	human	known	74_37	nonsense	6.25	30	2	SNP	1.000	A
BRCA1	672	genome.wustl.edu	37	17	41219693	41219693	+	Missense_Mutation	SNP	G	G	T	rs80357938		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:41219693G>T	ENST00000357654.3	-	16	5124	c.5006C>A	c.(5005-5007)gCc>gAc	p.A1669D	BRCA1_ENST00000352993.3_Missense_Mutation_p.A527D|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.A1373D|BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000351666.3_Missense_Mutation_p.A486D|BRCA1_ENST00000468300.1_Missense_Mutation_p.A565D|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.A1690D|BRCA1_ENST00000493795.1_Missense_Mutation_p.A1622D|BRCA1_ENST00000491747.2_Missense_Mutation_p.A565D|BRCA1_ENST00000591534.1_Missense_Mutation_p.A160D	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1669	BRCT 1. {ECO:0000255|PROSITE- ProRule:PRU00033}.				androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTGTTTTCTGGCAAACTTGTA	0.353			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													127.0	123.0	124.0					17																	41219693		2202	4300	6502	SO:0001583	missense	0	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.5006C>A	17.37:g.41219693G>T	ENSP00000350283:p.Ala1669Asp		O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.A1690D	ENST00000357654.3	37	c.5069	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	G	16.61	3.171173	0.57584	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000352993;ENST00000351666;ENST00000309486;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919	T;T;T;T;T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39;-1.39	5.24	5.24	0.73138	BRCT (4);	0.000000	0.51477	D	0.000098	D	0.88239	0.6383	M	0.67953	2.075	0.45676	D	0.998597	D;D;D;D;D;D;D;D	0.89917	1.0;0.985;1.0;0.999;1.0;1.0;0.966;1.0	D;D;D;D;D;D;P;D	0.97110	0.999;0.968;1.0;0.993;0.999;1.0;0.864;1.0	D	0.89095	0.3485	10	0.87932	D	0	.	14.6742	0.68967	0.0:0.0:1.0:0.0	.	565;518;564;566;565;1691;1669;1669	E7EUM2;B4DES0;E7ETR2;P38398-3;Q6IN79;E9PFC7;P38398;P38398-2	.;.;.;.;.;.;BRCA1_HUMAN;.	D	1669;1690;527;486;1373;565;518;1691;1622;564;565;440;519	ENSP00000350283:A1669D;ENSP00000312236:A527D;ENSP00000338007:A486D;ENSP00000310938:A1373D;ENSP00000417148:A565D;ENSP00000377294:A518D;ENSP00000418775:A1622D;ENSP00000420412:A565D;ENSP00000419481:A440D;ENSP00000418819:A519D	ENSP00000310938:A1373D	A	-	2	0	BRCA1	38473219	1.000000	0.71417	1.000000	0.80357	0.307000	0.27823	3.802000	0.55553	2.600000	0.87896	0.555000	0.69702	GCC	BRCA1	-	pirsf_BRCA1,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	ENSG00000012048		0.353	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	-	0.00	42	0	G	NM_007294		41219693	-1	tier1	-	no_errors	ENST00000471181	ensembl	human	known	74_37	missense	11.11	24	3	SNP	1.000	T
C8orf82	414919	genome.wustl.edu	37	8	145753146	145753146	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr8:145753146G>C	ENST00000524821.1	-	3	446	c.231C>G	c.(229-231)ttC>ttG	p.F77L	LRRC24_ENST00000529415.2_5'Flank|C8orf82_ENST00000313465.5_3'UTR|LRRC24_ENST00000533758.1_5'Flank			Q6P1X6	CH082_HUMAN	chromosome 8 open reading frame 82	77										endometrium(1)|urinary_tract(1)	2						TCAGGCGGGAGAAGAAGGTGA	0.687																																																	0													51.0	65.0	60.0					8																	145753146		2188	4279	6467	SO:0001583	missense	0				CCDS34970.1	8q24	2012-04-18			ENSG00000213563	ENSG00000213563			33826	protein-coding gene	gene with protein product						12477932	Standard	NM_001001795		Approved	MGC70857	uc003zdp.1	Q6P1X6	OTTHUMG00000165181	ENST00000524821.1:c.231C>G	8.37:g.145753146G>C	ENSP00000436621:p.Phe77Leu		Q6GMR2|Q6P2Q7	Missense_Mutation	SNP	NULL	p.F77L	ENST00000524821.1	37	c.231	CCDS34970.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.333468|4.333468	0.81801|0.81801	.|.	.|.	ENSG00000213563|ENSG00000213563	ENST00000524821|ENST00000532827	.|.	.|.	.|.	3.97|3.97	1.15|1.15	0.20763|0.20763	.|.	0.000000|.	0.64402|.	U|.	0.000020|.	T|T	0.63546|0.63546	0.2520|0.2520	M|M	0.76938|0.76938	2.355|2.355	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.996|.	D;D|.	0.83275|.	0.996;0.99|.	T|T	0.58323|0.58323	-0.7656|-0.7656	9|5	0.72032|.	D|.	0.01|.	-15.0063|-15.0063	6.4238|6.4238	0.21758|0.21758	0.3042:0.0:0.6958:0.0|0.3042:0.0:0.6958:0.0	.|.	69;77|.	Q6P1X6-2;Q6P1X6|.	.;CH082_HUMAN|.	L|V	77|122	.|.	ENSP00000436621:F77L|.	F|L	-|-	3|1	2|0	C8orf82|C8orf82	145723954|145723954	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.997000|0.997000	0.91878|0.91878	3.895000|3.895000	0.56258|0.56258	0.038000|0.038000	0.15604|0.15604	0.563000|0.563000	0.77884|0.77884	TTC|CTC	C8orf82	-	NULL	ENSG00000213563		0.687	C8orf82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf82	HGNC	protein_coding	OTTHUMT00000382503.1	-	0.00	82	0	G	NM_001001795		145753146	-1	tier1	-	no_errors	ENST00000524821	ensembl	human	known	74_37	missense	20.78	61	16	SNP	1.000	C
CAD	790	genome.wustl.edu	37	2	27456547	27456547	+	Silent	SNP	C	C	T	rs148549402		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:27456547C>T	ENST00000403525.1	+	20	3225	c.3081C>T	c.(3079-3081)tcC>tcT	p.S1027S	CAD_ENST00000264705.4_Silent_p.S1090S			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGCCCCTCCTATGTGCTGA	0.602																																																	0													68.0	70.0	69.0					2																	27456547		2203	4300	6503	SO:0001819	synonymous_variant	0			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3081C>T	2.37:g.27456547C>T			O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Silent	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.S1090	ENST00000403525.1	37	c.3270		2																																																																																			CAD	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu	ENSG00000084774		0.602	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1		0.00	24	0	C			27456547	+1			no_errors	ENST00000264705	ensembl	human	known	74_37	silent	23.08	10	3	SNP	1.000	T
CCDC108	255101	genome.wustl.edu	37	2	219890846	219890846	+	Silent	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:219890846G>A	ENST00000341552.5	-	14	2330	c.2247C>T	c.(2245-2247)tgC>tgT	p.C749C	CCDC108_ENST00000453220.1_Silent_p.C749C|CCDC108_ENST00000441968.1_Silent_p.C749C	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	749						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCACATGGTGCAGTCCTCCT	0.592																																																	0													67.0	60.0	63.0					2																	219890846		2203	4300	6503	SO:0001819	synonymous_variant	0			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.2247C>T	2.37:g.219890846G>A			A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Silent	SNP	superfamily_PapD-like,pfscan_MSP_dom	p.C749	ENST00000341552.5	37	c.2247	CCDS2430.2	2																																																																																			CCDC108	-	NULL	ENSG00000181378		0.592	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	-	0.00	31	0	G	NM_194302		219890846	-1	tier1	-	no_errors	ENST00000341552	ensembl	human	known	74_37	silent	25.00	12	4	SNP	0.993	A
CCDC30	728621	genome.wustl.edu	37	1	43002201	43002201	+	Missense_Mutation	SNP	G	G	A	rs372826618		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:43002201G>A	ENST00000340612.4	+	1	46	c.46G>A	c.(46-48)Gag>Aag	p.E16K	CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Missense_Mutation_p.E16K|CCDC30_ENST00000428554.2_Missense_Mutation_p.E16K			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	16						extracellular vesicular exosome (GO:0070062)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GTGGTCAAAAGAGAGAGAGAG	0.358																																																	0													97.0	95.0	96.0					1																	43002201		2203	4300	6503	SO:0001583	missense	0			AY639646	CCDS30690.1	1p34.2	2009-07-09			ENSG00000186409	ENSG00000186409			26103	protein-coding gene	gene with protein product	"""prefoldin 6-like"""					16710767	Standard	NM_001080850		Approved	FLJ20972, PFD6L, LOC728621	uc009vwk.1	Q5VVM6	OTTHUMG00000007334	ENST00000340612.4:c.46G>A	1.37:g.43002201G>A	ENSP00000340378:p.Glu16Lys		Q14F06|Q5VVM5	Missense_Mutation	SNP	NULL	p.E16K	ENST00000340612.4	37	c.46	CCDS30690.1	1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961791	0.53400	.	.	ENSG00000186409	ENST00000428554;ENST00000340612;ENST00000445157;ENST00000342022	T;T;T	0.54479	0.57;0.57;0.57	5.5	4.59	0.56863	.	0.190511	0.42420	D	0.000716	T	0.47154	0.1430	L	0.55481	1.735	0.80722	D	1	P	0.40107	0.703	B	0.40101	0.319	T	0.39143	-0.9628	10	0.27082	T	0.32	.	10.5783	0.45240	0.0898:0.0:0.9102:0.0	.	16	Q5VVM6	CCD30_HUMAN	K	16	ENSP00000397035:E16K;ENSP00000340378:E16K;ENSP00000339280:E16K	ENSP00000340378:E16K	E	+	1	0	CCDC30	42774788	1.000000	0.71417	0.987000	0.45799	0.121000	0.20230	4.754000	0.62191	1.462000	0.47948	-0.192000	0.12808	GAG	CCDC30	-	NULL	ENSG00000186409		0.358	CCDC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC30	HGNC	protein_coding	OTTHUMT00000019524.3		0.00	41	0	G	NM_025030		43002201	+1			no_errors	ENST00000340612	ensembl	human	known	74_37	missense	13.79	25	4	SNP	0.998	A
CCSER2	54462	genome.wustl.edu	37	10	86185632	86185632	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr10:86185632delA	ENST00000224756.8	+	5	2036	c.1851delA	c.(1849-1851)ggafs	p.G617fs	CCSER2_ENST00000494144.1_3'UTR|CCSER2_ENST00000372088.2_Frame_Shift_Del_p.G617fs|CCSER2_ENST00000543283.1_Frame_Shift_Del_p.G44fs	NM_001284243.1|NM_018999.2	NP_001271172.1|NP_061872.2	Q9H7U1	CCSE2_HUMAN	coiled-coil serine-rich protein 2	617					microtubule bundle formation (GO:0001578)	microtubule cytoskeleton (GO:0015630)											ATCACCATGGAAAAAGTGACT	0.453																																																	0													120.0	103.0	109.0					10																	86185632		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS31235.1, CCDS60582.1, CCDS60583.1, CCDS73159.1	10q23.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000107771	ENSG00000107771			29197	protein-coding gene	gene with protein product			"""KIAA1128"", ""family with sequence similarity 190, member B"""	KIAA1128, FAM190B		10574461	Standard	XM_005269905		Approved		uc001kdh.1	Q9H7U1	OTTHUMG00000018641	ENST00000224756.8:c.1851delA	10.37:g.86185632delA	ENSP00000224756:p.Gly617fs		B4DFY4|B4DQU9|B7WPE8|D3DWE2|Q8N6E9|Q9H2S0|Q9ULU1	Frame_Shift_Del	DEL	NULL	p.S619fs	ENST00000224756.8	37	c.1851	CCDS31235.1	10																																																																																			CCSER2	-	NULL	ENSG00000107771		0.453	CCSER2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCSER2	HGNC	protein_coding	OTTHUMT00000049132.2		0.00	34	0	A	NM_018999		86185632	+1	tier1		no_errors	ENST00000372088	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	0.396	-
CD109	135228	genome.wustl.edu	37	6	74475877	74475877	+	Splice_Site	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr6:74475877G>T	ENST00000287097.5	+	11	1444	c.1332G>T	c.(1330-1332)aaG>aaT	p.K444N	CD109_ENST00000422508.2_Splice_Site_p.K367N|CD109_ENST00000437994.2_Splice_Site_p.K444N			Q6YHK3	CD109_HUMAN	CD109 molecule	444					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TACAGTTGAAGGTGCCGTCTG	0.413																																																	0													55.0	49.0	51.0					6																	74475877		2203	4300	6503	SO:0001630	splice_region_variant	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1332+1G>T	6.37:g.74475877G>T			A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.K444N	ENST00000287097.5	37	c.1332	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814016	0.50527	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.23147	1.93;2.13;1.92	4.54	4.54	0.55810	.	0.506409	0.21186	N	0.078731	T	0.09247	0.0228	N	0.19112	0.55	0.43499	D	0.995745	P;P;B;B	0.43094	0.799;0.496;0.008;0.077	B;B;B;B	0.39531	0.302;0.218;0.062;0.045	T	0.14090	-1.0485	10	0.20046	T	0.44	.	16.5716	0.84613	0.0:0.0:1.0:0.0	.	367;444;444;444	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	N	444;367;444	ENSP00000388062:K444N;ENSP00000404475:K367N;ENSP00000287097:K444N	ENSP00000287097:K444N	K	+	3	2	CD109	74532598	1.000000	0.71417	0.996000	0.52242	0.712000	0.41017	5.465000	0.66725	2.499000	0.84300	0.462000	0.41574	AAG	CD109	-	NULL	ENSG00000156535		0.413	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3		0.00	54	0	G	NM_133493	Missense_Mutation	74475877	+1			no_errors	ENST00000287097	ensembl	human	known	74_37	missense	11.54	23	3	SNP	1.000	T
CD1C	911	genome.wustl.edu	37	1	158262114	158262114	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:158262114T>C	ENST00000368170.3	+	3	848	c.569T>C	c.(568-570)tTg>tCg	p.L190S		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	190					antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CGATTTCTCTTGGGTCTCCTG	0.448																																																	0													276.0	278.0	277.0					1																	158262114		2203	4300	6503	SO:0001583	missense	0			M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.569T>C	1.37:g.158262114T>C	ENSP00000357152:p.Leu190Ser		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom	p.L190S	ENST00000368170.3	37	c.569	CCDS1175.1	1	.	.	.	.	.	.	.	.	.	.	-	9.250	1.040504	0.19669	.	.	ENSG00000158481	ENST00000368169;ENST00000368170	T	0.07567	3.18	3.36	3.36	0.38483	MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.600221	0.12643	N	0.451130	T	0.02688	0.0081	L	0.54908	1.71	0.09310	N	1	P	0.42827	0.791	B	0.31869	0.137	T	0.36504	-0.9745	10	0.36615	T	0.2	.	8.5093	0.33206	0.0:0.0:0.0:1.0	.	190	P29017	CD1C_HUMAN	S	190	ENSP00000357152:L190S	ENSP00000357151:L190S	L	+	2	0	CD1C	156528738	0.000000	0.05858	0.218000	0.23776	0.088000	0.18126	-0.061000	0.11693	1.779000	0.52309	0.524000	0.50904	TTG	CD1C	-	superfamily_MHC_I/II-like_Ag-recog	ENSG00000158481		0.448	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD1C	HGNC	protein_coding	OTTHUMT00000046351.2	-	0.00	49	0	T	NM_001765		158262114	+1	tier1	-	no_errors	ENST00000368170	ensembl	human	known	74_37	missense	43.33	17	13	SNP	0.284	C
CDC6	990	genome.wustl.edu	37	17	38457118	38457118	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:38457118G>T	ENST00000209728.4	+	10	1759	c.1288G>T	c.(1288-1290)Ggt>Tgt	p.G430C	CTD-2267D19.6_ENST00000602403.1_lincRNA	NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	430					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CAAGAGGGTTGGTCTTATTCA	0.403																																																	0													203.0	193.0	196.0					17																	38457118		2203	4300	6503	SO:0001583	missense	0			U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1288G>T	17.37:g.38457118G>T	ENSP00000209728:p.Gly430Cys		Q8TB30	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18	p.G430C	ENST00000209728.4	37	c.1288	CCDS11365.1	17	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668518	0.67814	.	.	ENSG00000094804	ENST00000209728	T	0.38401	1.14	5.82	3.78	0.43462	.	0.162163	0.64402	D	0.000019	T	0.49660	0.1570	M	0.64997	1.995	0.39018	D	0.959691	D	0.76494	0.999	D	0.64237	0.923	T	0.52555	-0.8560	10	0.51188	T	0.08	-13.5156	8.0534	0.30591	0.2546:0.0:0.7454:0.0	.	430	Q99741	CDC6_HUMAN	C	430	ENSP00000209728:G430C	ENSP00000209728:G430C	G	+	1	0	CDC6	35710644	1.000000	0.71417	0.996000	0.52242	0.947000	0.59692	2.808000	0.47963	1.399000	0.46721	0.655000	0.94253	GGT	CDC6	-	pirsf_Cell_div_Cdc6/18	ENSG00000094804		0.403	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC6	HGNC	protein_coding	OTTHUMT00000257129.1	-	0.00	55	0	G			38457118	+1	tier1	-	no_errors	ENST00000209728	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.999	T
CDCA7L	55536	genome.wustl.edu	37	7	21956476	21956477	+	Frame_Shift_Ins	INS	-	-	G			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr7:21956476_21956477insG	ENST00000406877.3	-	2	339_340	c.60_61insC	c.(58-63)cccagtfs	p.S21fs	CDCA7L_ENST00000373934.4_Frame_Shift_Ins_p.S21fs|CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000356195.5_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	21					positive regulation of cell proliferation (GO:0008284)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCATCATCACTGGGGGCGTTAA	0.455																																																	0																																										SO:0001589	frameshift_variant	0				CCDS5374.1, CCDS47558.1, CCDS47559.1	7p15.3	2007-04-27			ENSG00000164649	ENSG00000164649			30777	protein-coding gene	gene with protein product		609685				16829576	Standard	NM_018719		Approved	RAM2, R1, JPO2	uc010kuk.3	Q96GN5	OTTHUMG00000128429	ENST00000406877.3:c.61dupC	7.37:g.21956481_21956481dupG	ENSP00000383986:p.Ser21fs		A4D141|A6NF50|B3KTR5|B4DUT3|C9K0Y1|Q6PIL4|Q86YT0|Q8IXN5|Q96C70|Q9H9A2|Q9NPV2	Frame_Shift_Ins	INS	pfam_Znf-4CXXC_R1	p.S20fs	ENST00000406877.3	37	c.61_60	CCDS5374.1	7																																																																																			CDCA7L	-	NULL	ENSG00000164649		0.455	CDCA7L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA7L	HGNC	protein_coding	OTTHUMT00000250218.4		0.00	54	0	-	NM_018719		21956477	-1	tier1		no_errors	ENST00000406877	ensembl	human	known	74_37	frame_shift_ins	6.90	27	2	INS	1.000:1.000	G
CDH20	28316	genome.wustl.edu	37	18	59170238	59170238	+	Silent	SNP	C	C	T	rs370206160		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr18:59170238C>T	ENST00000262717.4	+	5	1112	c.714C>T	c.(712-714)taC>taT	p.Y238Y	CDH20_ENST00000536675.2_Silent_p.Y238Y|CDH20_ENST00000538374.1_Silent_p.Y238Y			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	238	Cadherin 2. {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(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AAGAATACTACGAAGTGATTA	0.443											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C		0,4406		0,0,2203	169.0	151.0	157.0		714	-4.0	1.0	18		157	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	CDH20	NM_031891.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		238/802	59170238	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AF217289	CCDS11977.1	18q21.33	2010-01-26			ENSG00000101542	ENSG00000101542		"""Cadherins / Major cadherins"""	1760	protein-coding gene	gene with protein product		605807				10995570	Standard	NM_031891		Approved	CDH7L3, Cdh7	uc010dps.1	Q9HBT6	OTTHUMG00000132768	ENST00000262717.4:c.714C>T	18.37:g.59170238C>T		1036	Q495S3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y238	ENST00000262717.4	37	c.714	CCDS11977.1	18																																																																																			CDH20	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000101542		0.443	CDH20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH20	HGNC	protein_coding	OTTHUMT00000256141.2		0.00	83	0	C	NM_031891		59170238	+1			no_errors	ENST00000262717	ensembl	human	known	74_37	silent	6.25	30	2	SNP	0.959	T
CDK5R2	8941	genome.wustl.edu	37	2	219825199	219825201	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:219825199_219825201delGCT	ENST00000302625.4	+	1	823_825	c.657_659delGCT	c.(655-660)tcgctg>tcg	p.L222del	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	222					cerebellum development (GO:0021549)|hippocampus development (GO:0021766)|layer formation in cerebral cortex (GO:0021819)|neuron migration (GO:0001764)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|superior olivary nucleus maturation (GO:0021722)	cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	cyclin-dependent protein kinase 5 activator activity (GO:0016534)|lipid binding (GO:0008289)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGACCGCTCGCTGCTGCTGCAG	0.67																																																	0																																										SO:0001651	inframe_deletion	0			U34051	CCDS2427.1	2q35	2008-05-22			ENSG00000171450	ENSG00000171450			1776	protein-coding gene	gene with protein product	"""neuronal CDK5 activator isoform"""	603764				7592934	Standard	NM_003936		Approved	p39nck5ai, P39, NCK5AI	uc002vjf.4	Q13319	OTTHUMG00000133083	ENST00000302625.4:c.657_659delGCT	2.37:g.219825205_219825207delGCT	ENSP00000304250:p.Leu222del		Q4ZFW6	In_Frame_Del	DEL	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator	p.L222in_frame_del	ENST00000302625.4	37	c.657_659	CCDS2427.1	2																																																																																			CDK5R2	-	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator	ENSG00000171450		0.670	CDK5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5R2	HGNC	protein_coding	OTTHUMT00000256728.1		0.00	13	0	GCT	NM_003936		219825201	+1	tier1		no_errors	ENST00000302625	ensembl	human	known	74_37	in_frame_del	40.00	3	2	DEL	0.998:1.000:1.000	-
CEACAM5	1048	genome.wustl.edu	37	19	42221564	42221564	+	Silent	SNP	C	C	T	rs528850947		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:42221564C>T	ENST00000221992.6	+	5	1263	c.1149C>T	c.(1147-1149)gtC>gtT	p.V383V	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Silent_p.V383V|CEACAM5_ENST00000398599.4_Silent_p.V382V	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	383	Ig-like 4.				homotypic cell-cell adhesion (GO:0034109)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myotube differentiation (GO:0010832)	anchored component of membrane (GO:0031225)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of external side of plasma membrane (GO:0071575)|integral component of plasma membrane (GO:0005887)	GPI anchor binding (GO:0034235)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TACTCAGTGTCACAAGGAATG	0.493																																																	0													224.0	206.0	212.0					19																	42221564		2203	4300	6503	SO:0001819	synonymous_variant	0			M17303	CCDS12584.1	19q13.1-q13.2	2013-01-29			ENSG00000105388	ENSG00000105388		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1817	protein-coding gene	gene with protein product		114890		CEA			Standard	XM_005258413		Approved	CD66e	uc002orl.3	P06731	OTTHUMG00000151061	ENST00000221992.6:c.1149C>T	19.37:g.42221564C>T			H9KVA7	Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.V383	ENST00000221992.6	37	c.1149	CCDS12584.1	19	.	.	.	.	.	.	.	.	.	.	C	1.900	-0.453402	0.04540	.	.	ENSG00000105388	ENST00000398599	.	.	.	2.45	-0.312	0.12758	.	.	.	.	.	T	0.22244	0.0536	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.26467	-1.0102	4	.	.	.	.	3.5881	0.07978	0.0:0.5747:0.2557:0.1696	.	.	.	.	Y	379	.	.	H	+	1	0	CEACAM5	46913404	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.863000	0.04259	0.278000	0.22164	-0.310000	0.09108	CAC	CEACAM5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000105388		0.493	CEACAM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEACAM5	HGNC	protein_coding	OTTHUMT00000321132.2	-	0.00	143	0	C	NM_004363		42221564	+1	tier1	-	no_errors	ENST00000221992	ensembl	human	known	74_37	silent	16.22	61	12	SNP	0.004	T
CLEC4F	165530	genome.wustl.edu	37	2	71044150	71044150	+	Silent	SNP	G	G	T	rs540670274		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:71044150G>T	ENST00000272367.2	-	4	439	c.363C>A	c.(361-363)atC>atA	p.I121I	CLEC4F_ENST00000426626.1_Silent_p.I121I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	121					endocytosis (GO:0006897)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.I121I(1)		endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						TCAACATCTGGATTTCTACTA	0.488																																					Colon(107;10 2157 6841 26035)												1	Substitution - coding silent(1)	endometrium(1)											103.0	94.0	97.0					2																	71044150		2203	4300	6503	SO:0001819	synonymous_variant	0			AK096429	CCDS1910.1	2p13.3	2008-02-05	2005-02-09	2005-02-11	ENSG00000152672	ENSG00000152672		"""C-type lectin domain containing"""	25357	protein-coding gene	gene with protein product			"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 13"""	CLECSF13		8889548, 1846367	Standard	NM_001258027		Approved	FLJ39110, KCLR	uc002shf.3	Q8N1N0	OTTHUMG00000129713	ENST00000272367.2:c.363C>A	2.37:g.71044150G>T			A4QPA5	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Prefoldin,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin	p.I121	ENST00000272367.2	37	c.363	CCDS1910.1	2																																																																																			CLEC4F	-	NULL	ENSG00000152672		0.488	CLEC4F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLEC4F	HGNC	protein_coding	OTTHUMT00000251922.1		0.00	54	0	G	NM_173535		71044150	-1			no_errors	ENST00000272367	ensembl	human	known	74_37	silent	5.56	34	2	SNP	0.976	T
CNEP1R1	255919	genome.wustl.edu	37	16	50059594	50059594	+	Intron	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr16:50059594G>T	ENST00000427478.2	+	1	79				CNEP1R1_ENST00000458059.3_Missense_Mutation_p.V20F|CNEP1R1_ENST00000565556.1_5'UTR|CNEP1R1_ENST00000562576.1_Intron|CNEP1R1_ENST00000567712.1_3'UTR	NM_001281789.1	NP_001268718.1	Q8N9A8	NEPR1_HUMAN	CTD nuclear envelope phosphatase 1 regulatory subunit 1						lipid metabolic process (GO:0006629)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of triglyceride biosynthetic process (GO:0010867)|protein localization to nucleus (GO:0034504)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|Nem1-Spo7 phosphatase complex (GO:0071595)|nuclear membrane (GO:0031965)											TCCTGCGGTGGTTTCCGGTAA	0.498																																																	0													91.0	89.0	89.0					16																	50059594		1892	4125	6017	SO:0001627	intron_variant	0			AK095420	CCDS45480.1, CCDS61931.1	16q12.1	2012-02-01	2012-02-01	2012-02-01	ENSG00000205423	ENSG00000205423			26759	protein-coding gene	gene with protein product	"""nuclear envelope phosphatase 1-regulatory subunit 1"""		"""chromosome 16 open reading frame 69"", ""transmembrane protein 188"""	C16orf69, TMEM188		22134922	Standard	NM_153261		Approved	FLJ38101, NEP1-R1	uc002eft.3	Q8N9A8		ENST00000427478.2:c.25+343G>T	16.37:g.50059594G>T			Q4G1A9|Q5H9V0|Q8NE06	Missense_Mutation	SNP	pfam_Transmembrane_protein_188	p.V20F	ENST00000427478.2	37	c.58		16	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676059	0.67928	.	.	ENSG00000205423	ENST00000458059	.	.	.	3.58	2.61	0.31194	.	.	.	.	.	T	0.23289	0.0563	N	0.08118	0	0.19300	N	0.999971	B	0.15141	0.012	B	0.14578	0.011	T	0.19063	-1.0317	8	0.59425	D	0.04	.	8.6944	0.34287	0.0:0.0:0.5896:0.4104	.	20	Q8N9A8-2	.	F	20	.	ENSP00000405635:V20F	V	+	1	0	TMEM188	48617095	0.018000	0.18449	0.019000	0.16419	0.633000	0.38033	1.092000	0.30927	1.063000	0.40649	0.462000	0.41574	GTT	CNEP1R1	-	NULL	ENSG00000205423		0.498	CNEP1R1-201	KNOWN	basic|appris_principal	protein_coding	CNEP1R1	HGNC	protein_coding			0.00	68	0	G	NM_153261		50059594	+1			no_errors	ENST00000458059	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.020	T
COL6A6	131873	genome.wustl.edu	37	3	130282295	130282295	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:130282295G>A	ENST00000358511.6	+	2	479	c.448G>A	c.(448-450)Gca>Aca	p.A150T	COL6A6_ENST00000453409.2_Missense_Mutation_p.A150T	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	150	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTGGAAGAGGCATCAAAGGC	0.493																																																	0													52.0	52.0	52.0					3																	130282295		1916	4124	6040	SO:0001583	missense	0			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.448G>A	3.37:g.130282295G>A	ENSP00000351310:p.Ala150Thr		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.A150T	ENST00000358511.6	37	c.448	CCDS46911.1	3	.	.	.	.	.	.	.	.	.	.	G	16.89	3.248069	0.59103	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	T;T	0.80214	-1.35;-1.35	5.21	2.01	0.26516	von Willebrand factor, type A (3);	0.220705	0.31760	N	0.007120	D	0.82944	0.5147	M	0.85197	2.74	0.34338	D	0.688409	P	0.36354	0.549	B	0.39617	0.305	D	0.87496	0.2430	10	0.45353	T	0.12	.	15.4175	0.74983	0.0:0.662:0.338:0.0	.	150	A6NMZ7	CO6A6_HUMAN	T	150	ENSP00000351310:A150T;ENSP00000399236:A150T	ENSP00000351310:A150T	A	+	1	0	COL6A6	131764985	0.698000	0.27777	0.939000	0.37840	0.561000	0.35649	2.208000	0.42797	0.648000	0.30732	0.561000	0.74099	GCA	COL6A6	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000206384		0.493	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL6A6	HGNC	protein_coding	OTTHUMT00000356705.5		0.00	45	0	G	NM_001102608		130282295	+1			no_errors	ENST00000358511	ensembl	human	known	74_37	missense	6.67	28	2	SNP	0.890	A
COX10	1352	genome.wustl.edu	37	17	14063220	14063220	+	Silent	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:14063220C>T	ENST00000261643.3	+	5	728	c.651C>T	c.(649-651)aaC>aaT	p.N217N	COX10_ENST00000537334.1_5'UTR|COX10_ENST00000536205.1_Silent_p.N25N	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	217					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TTGACTCAAACATGAATAGGA	0.338																																																	0													85.0	77.0	80.0					17																	14063220		2203	4300	6503	SO:0001819	synonymous_variant	0			U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.651C>T	17.37:g.14063220C>T			B2R6U5|B4DJ50|O15334|Q969F7	Silent	SNP	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase	p.N217	ENST00000261643.3	37	c.651	CCDS11166.1	17																																																																																			COX10	-	pfam_UbiA_prenyltransferase,pirsf_Protohaem_IX_farnesylTrfase_mt,tigrfam_Protohaem_IX_farnesylTrfase	ENSG00000006695		0.338	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX10	HGNC	protein_coding	OTTHUMT00000130003.1	-	0.00	49	0	C	NM_001303		14063220	+1	tier1	-	no_errors	ENST00000261643	ensembl	human	known	74_37	silent	30.56	25	11	SNP	1.000	T
CSMD1	64478	genome.wustl.edu	37	8	2876139	2876139	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr8:2876139delT	ENST00000520002.1	-	53	8447	c.7892delA	c.(7891-7893)aatfs	p.N2631fs	CSMD1_ENST00000537824.1_Frame_Shift_Del_p.N2630fs|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602557.1_Frame_Shift_Del_p.N2631fs			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2631	Sushi 17. {ECO:0000255|PROSITE- ProRule:PRU00302}.					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)		CTTGTTGCCATTTGGGGGAAA	0.438																																																	0													128.0	124.0	125.0					8																	2876139		1911	4126	6037	SO:0001589	frameshift_variant	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.7892delA	8.37:g.2876139delT	ENSP00000430733:p.Asn2631fs		Q0H0J5|Q96QU9|Q96RM4	Frame_Shift_Del	DEL	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.N2631fs	ENST00000520002.1	37	c.7892		8																																																																																			CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.438	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2		0.00	73	0	T	NM_033225		2876139	-1	tier1		no_errors	ENST00000520002	ensembl	human	known	74_37	frame_shift_del	10.00	18	2	DEL	0.983	-
CUL7	9820	genome.wustl.edu	37	6	43016265	43016265	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr6:43016265C>T	ENST00000265348.3	-	8	1953	c.1868G>A	c.(1867-1869)cGt>cAt	p.R623H	CUL7_ENST00000478630.1_5'Flank|CUL7_ENST00000535468.1_Missense_Mutation_p.R707H			Q14999	CUL7_HUMAN	cullin 7	623					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTCCACCAGACGCTGCAGGGG	0.547																																																	0													50.0	53.0	52.0					6																	43016265		2203	4300	6503	SO:0001583	missense	0			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.1868G>A	6.37:g.43016265C>T	ENSP00000265348:p.Arg623His		B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.R707H	ENST00000265348.3	37	c.2120	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449516	0.26074	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.79940	-1.31;-1.32	5.35	-10.7	0.00240	.	2.736220	0.00817	N	0.001544	T	0.47728	0.1461	L	0.40543	1.245	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.04013	0.001;0.001	T	0.48198	-0.9056	10	0.37606	T	0.19	-13.1788	10.1421	0.42740	0.0:0.3418:0.1422:0.516	.	707;623	F5H0L1;Q14999	.;CUL7_HUMAN	H	623;707	ENSP00000265348:R623H;ENSP00000438788:R707H	ENSP00000265348:R623H	R	-	2	0	CUL7	43124243	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-3.348000	0.00503	-3.289000	0.00195	-1.731000	0.00696	CGT	CUL7	-	NULL	ENSG00000044090		0.547	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1		0.00	53	0	C	NM_014780		43016265	-1			no_errors	ENST00000535468	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	T
CYP24A1	1591	genome.wustl.edu	37	20	52781025	52781025	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr20:52781025G>T	ENST00000216862.3	-	6	1203	c.810C>A	c.(808-810)gaC>gaA	p.D270E	CYP24A1_ENST00000395955.3_Missense_Mutation_p.D270E|CYP24A1_ENST00000395954.3_Missense_Mutation_p.D128E	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	270				D -> G (in Ref. 1; AAA62379). {ECO:0000305}.	osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCAGAGTGTGGTCCTGCCAGA	0.547																																																	0													238.0	203.0	215.0					20																	52781025		2203	4300	6503	SO:0001583	missense	0			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.810C>A	20.37:g.52781025G>T	ENSP00000216862:p.Asp270Glu		Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.D270E	ENST00000216862.3	37	c.810	CCDS33491.1	20	.	.	.	.	.	.	.	.	.	.	G	6.368	0.436003	0.12104	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	T;T;T	0.67865	0.06;-0.29;-0.29	5.66	-9.35	0.00633	.	0.564259	0.19193	N	0.120381	T	0.38026	0.1025	N	0.25992	0.78	0.23685	N	0.997118	B;B;B	0.25235	0.121;0.121;0.121	B;B;B	0.33521	0.165;0.165;0.165	T	0.51818	-0.8657	10	0.02654	T	1	-5.8227	5.7636	0.18213	0.1467:0.5031:0.1894:0.1607	.	270;270;128	Q32ML3;Q07973;Q5I2W7	.;CP24A_HUMAN;.	E	270;270;128	ENSP00000216862:D270E;ENSP00000379285:D270E;ENSP00000379284:D128E	ENSP00000216862:D270E	D	-	3	2	CYP24A1	52214432	0.210000	0.23517	0.199000	0.23439	0.985000	0.73830	-0.473000	0.06615	-1.143000	0.02866	-0.136000	0.14681	GAC	CYP24A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP24A_mit	ENSG00000019186		0.547	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP24A1	HGNC	protein_coding	OTTHUMT00000079769.2		0.00	86	0	G			52781025	-1			no_errors	ENST00000216862	ensembl	human	known	74_37	missense	11.76	30	4	SNP	0.014	T
CYP2A13	1553	genome.wustl.edu	37	19	41596050	41596050	+	Missense_Mutation	SNP	C	C	A	rs146067729		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:41596050C>A	ENST00000330436.3	+	3	442	c.442C>A	c.(442-444)Cgc>Agc	p.R148S		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	148					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	CATCGAGGAACGCATCCAGGA	0.692																																																	0								-	SER/ARG	0,4404		0,0,2202	32.0	33.0	32.0		442	3.3	1.0	19	dbSNP_134	32	1,8599		0,1,4299	no	missense	CYP2A13	NM_000766.3	110	0,1,6501	AA,AC,CC		0.0116,0.0,0.0077	probably-damaging	148/495	41596050	1,13003	2202	4300	6502	SO:0001583	missense	0			U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.442C>A	19.37:g.41596050C>A	ENSP00000332679:p.Arg148Ser		Q53YR8|Q6R569|Q6R570|Q9H2X2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV	p.R148S	ENST00000330436.3	37	c.442	CCDS12571.1	19	.	.	.	.	.	.	.	.	.	.	.	13.16	2.154200	0.38021	0.0	1.16E-4	ENSG00000197838	ENST00000330436	T	0.69685	-0.42	3.27	3.27	0.37495	.	0.066533	0.64402	U	0.000010	T	0.72415	0.3457	L	0.35542	1.07	0.25147	N	0.990452	D	0.89917	1.0	D	0.83275	0.996	T	0.65573	-0.6135	10	0.87932	D	0	.	14.0174	0.64531	0.0:1.0:0.0:0.0	.	148	Q16696	CP2AD_HUMAN	S	148	ENSP00000332679:R148S	ENSP00000332679:R148S	R	+	1	0	CYP2A13	46287890	0.312000	0.24545	0.998000	0.56505	0.002000	0.02628	0.319000	0.19522	1.884000	0.54569	0.264000	0.19307	CGC	CYP2A13	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000197838		0.692	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2A13	HGNC	protein_coding	OTTHUMT00000463505.1	-	0.00	98	0	C	NM_000766		41596050	+1	tier1	rs146067729	no_errors	ENST00000330436	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.971	A
DBR1	51163	genome.wustl.edu	37	3	137886121	137886121	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:137886121C>A	ENST00000260803.4	-	5	669	c.516G>T	c.(514-516)ttG>ttT	p.L172F	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	172					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AATCATGAGACAAGAATATAT	0.328																																																	0													42.0	45.0	44.0					3																	137886121		2203	4300	6503	SO:0001583	missense	0			AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.516G>T	3.37:g.137886121C>A	ENSP00000260803:p.Leu172Phe		Q96GH0|Q9NXQ6	Missense_Mutation	SNP	pfam_DBR1_C,pfam_PEstase_dom	p.L172F	ENST00000260803.4	37	c.516	CCDS33863.1	3	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412924	0.62511	.	.	ENSG00000138231	ENST00000260803	D	0.87729	-2.29	5.28	0.0214	0.14129	Metallophosphoesterase domain (1);	0.051478	0.64402	D	0.000001	D	0.89808	0.6822	M	0.73372	2.23	0.80722	D	1	D	0.53885	0.963	P	0.61533	0.89	D	0.87521	0.2446	10	0.72032	D	0.01	-25.0613	8.6287	0.33906	0.0:0.5993:0.0:0.4007	.	172	Q9UK59	DBR1_HUMAN	F	172	ENSP00000260803:L172F	ENSP00000260803:L172F	L	-	3	2	DBR1	139368811	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	1.756000	0.38390	0.018000	0.15052	-0.312000	0.09012	TTG	DBR1	-	pfam_PEstase_dom	ENSG00000138231		0.328	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBR1	HGNC	protein_coding	OTTHUMT00000357585.1	-	0.00	30	0	C			137886121	-1	tier1	-	no_errors	ENST00000260803	ensembl	human	known	74_37	missense	35.29	11	6	SNP	1.000	A
DDX51	317781	genome.wustl.edu	37	12	132628264	132628264	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:132628264delC	ENST00000397333.3	-	2	533	c.495delG	c.(493-495)gggfs	p.G165fs	NOC4L_ENST00000330579.1_5'Flank	NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	165					rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TCTTCCCGAACCCCCCCAGCA	0.756																																																	0										13,2521		4,5,1258	3.0	4.0	3.0			1.3	0.1	12		3	24,6238		7,10,3114	no	frameshift	DDX51	NM_175066.3		11,15,4372	A1A1,A1R,RR		0.3833,0.513,0.4206			132628264	37,8759	1456	3450	4906	SO:0001589	frameshift_variant	0			BC040185	CCDS41865.1	12q24.33	2005-10-12				ENSG00000185163		"""DEAD-boxes"""	20082	protein-coding gene	gene with protein product							Standard	NM_175066		Approved		uc001ujy.4	Q8N8A6		ENST00000397333.3:c.495delG	12.37:g.132628264delC	ENSP00000380495:p.Gly165fs		A8MPT9|Q5CZ71|Q8IXK5|Q96ED1	Frame_Shift_Del	DEL	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.F166fs	ENST00000397333.3	37	c.495	CCDS41865.1	12																																																																																			DDX51	-	NULL	ENSG00000185163		0.756	DDX51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX51	HGNC	protein_coding	OTTHUMT00000398978.1		0.00	13	0	C	NM_175066		132628264	-1			no_errors	ENST00000397333	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.359	0
DHX36	170506	genome.wustl.edu	37	3	153993988	153993988	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:153993988G>T	ENST00000496811.1	-	25	3079	c.2999C>A	c.(2998-3000)cCa>cAa	p.P1000Q	DHX36_ENST00000329463.5_Missense_Mutation_p.P986Q|DHX36_ENST00000544526.1_Missense_Mutation_p.P986Q|DHX36_ENST00000308361.6_Missense_Mutation_p.P971Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	1000					ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGGAATCGTGGCGGAAAGTT	0.433																																																	0													144.0	136.0	138.0					3																	153993988		2203	4300	6503	SO:0001583	missense	0			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.2999C>A	3.37:g.153993988G>T	ENSP00000417078:p.Pro1000Gln		B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.P1000Q	ENST00000496811.1	37	c.2999	CCDS3171.1	3	.	.	.	.	.	.	.	.	.	.	G	16.77	3.215492	0.58452	.	.	ENSG00000174953	ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463	T;T;T;T	0.03441	4.1;4.05;3.93;3.93	5.82	5.82	0.92795	.	0.047442	0.85682	D	0.000000	T	0.11623	0.0283	L	0.41236	1.265	0.22213	N	0.999282	D;D;D	0.67145	0.996;0.996;0.994	P;P;P	0.59889	0.865;0.865;0.737	T	0.02333	-1.1175	10	0.49607	T	0.09	.	20.104	0.97884	0.0:0.0:1.0:0.0	.	986;971;1000	Q9H2U1-2;Q9H2U1-3;Q9H2U1	.;.;DHX36_HUMAN	Q	1000;971;986;986	ENSP00000417078:P1000Q;ENSP00000309296:P971Q;ENSP00000444247:P986Q;ENSP00000330113:P986Q	ENSP00000309296:P971Q	P	-	2	0	DHX36	155476682	1.000000	0.71417	0.084000	0.20598	0.730000	0.41778	7.419000	0.80179	2.741000	0.93983	0.557000	0.71058	CCA	DHX36	-	NULL	ENSG00000174953		0.433	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX36	HGNC	protein_coding	OTTHUMT00000353349.1	-	0.00	43	0	G	NM_020865		153993988	-1	tier1	-	no_errors	ENST00000496811	ensembl	human	known	74_37	missense	15.00	17	3	SNP	0.303	T
DLGAP4	22839	genome.wustl.edu	37	20	35156046	35156047	+	3'UTR	DEL	CA	CA	-	rs568587120	byFrequency	TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr20:35156046_35156047delCA	ENST00000339266.5	+	0	3591_3592				DLGAP4_ENST00000373913.3_3'UTR|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000401952.2_3'UTR|RP5-977B1.7_ENST00000433238.1_RNA|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4						cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACCTCACGCGCACACACACACA	0.649																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000339266.5:c.*613CA>-	20.37:g.35156056_35156057delCA			E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	RNA	DEL	-	NULL	ENST00000339266.5	37	NULL		20																																																																																			DLGAP4	-	-	ENSG00000080845		0.649	DLGAP4-201	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding			0.00	24	0	CA	NM_014902		35156047	+1	tier1		no_errors	ENST00000475894	ensembl	human	known	74_37	rna	33.33	4	2	DEL	0.000:0.000	-
DNAH9	1770	genome.wustl.edu	37	17	11523027	11523027	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:11523027G>T	ENST00000262442.4	+	6	1347	c.1279G>T	c.(1279-1281)Gaa>Taa	p.E427*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.E427*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	427	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GGAAGTCAAGGAATGGGATTT	0.502																																																	0													137.0	130.0	132.0					17																	11523027		2203	4300	6503	SO:0001587	stop_gained	0			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1279G>T	17.37:g.11523027G>T	ENSP00000262442:p.Glu427*		A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.E427*	ENST00000262442.4	37	c.1279	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.794829	0.96952	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	.	.	.	5.98	5.01	0.66863	.	0.619175	0.17047	N	0.189079	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	9.1669	0.37056	0.2192:0.0:0.7808:0.0	.	.	.	.	X	427	.	ENSP00000262442:E427X	E	+	1	0	DNAH9	11463752	0.002000	0.14202	0.247000	0.24249	0.994000	0.84299	1.123000	0.31308	1.526000	0.49068	0.591000	0.81541	GAA	DNAH9	-	pfam_Dynein_heavy_dom-1	ENSG00000007174		0.502	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2		0.00	31	0	G	NM_001372		11523027	+1			no_errors	ENST00000262442	ensembl	human	known	74_37	nonsense	12.50	21	3	SNP	0.052	T
DNHD1	144132	genome.wustl.edu	37	11	6588210	6588210	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:6588210G>T	ENST00000527990.2	+	34	11471	c.11471G>T	c.(11470-11472)gGa>gTa	p.G3824V	DNHD1_ENST00000254579.6_Missense_Mutation_p.G3824V			Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3824					microtubule-based movement (GO:0007018)	dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)	microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		AGGGCCCAAGGAAAGCTATGC	0.527																																																	0													75.0	76.0	76.0					11																	6588210		2003	4172	6175	SO:0001583	missense	0			AK128064	CCDS44532.1, CCDS7767.1	11p15.4	2011-02-10		2005-11-28	ENSG00000179532	ENSG00000179532			26532	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 47"", ""dynein heavy chain domain 1-like"", ""coiled-coil domain containing 35"""	DHCD1, C11orf47, DNHD1L, CCDC35		12975309	Standard	NM_173589		Approved	FLJ32752, FLJ46184, FLJ35709, DKFZp686J0796	uc001mdw.4	Q96M86	OTTHUMG00000133403	ENST00000527990.2:c.11471G>T	11.37:g.6588210G>T	ENSP00000436180:p.Gly3824Val		Q2NKK8|Q6UWI9|Q8NAA2|Q8TEE6|Q9NSZ9	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE	p.G3824V	ENST00000527990.2	37	c.11471	CCDS44532.1	11	.	.	.	.	.	.	.	.	.	.	G	5.369	0.253329	0.10185	.	.	ENSG00000179532	ENST00000254579;ENST00000527990;ENST00000525883;ENST00000530197	T;T	0.25414	1.8;1.8	4.82	3.91	0.45181	.	0.496993	0.16799	N	0.199068	T	0.13927	0.0337	N	0.08118	0	0.40147	D	0.9769	B;B;B	0.13594	0.008;0.008;0.008	B;B;B	0.14578	0.011;0.011;0.011	T	0.07829	-1.0752	10	0.28530	T	0.3	-3.6447	12.4595	0.55723	0.0:0.8275:0.1725:0.0	.	2912;92;3824	B0I1S4;D3DQT9;Q96M86	.;.;DNHD1_HUMAN	V	3824;3824;92;92	ENSP00000254579:G3824V;ENSP00000436180:G3824V	ENSP00000254579:G3824V	G	+	2	0	DNHD1	6544786	0.395000	0.25254	0.408000	0.26446	0.083000	0.17756	0.542000	0.23222	1.249000	0.43950	-0.147000	0.13772	GGA	DNHD1	-	NULL	ENSG00000179532		0.527	DNHD1-007	NOVEL	basic|appris_principal|CCDS	protein_coding	DNHD1	HGNC	protein_coding	OTTHUMT00000384673.2	-	0.00	36	0	G	NM_144666		6588210	+1	tier1	-	no_errors	ENST00000254579	ensembl	human	known	74_37	missense	14.29	18	3	SNP	0.774	T
DOCK11	139818	genome.wustl.edu	37	X	117676956	117676956	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chrX:117676956delC	ENST00000276202.7	+	3	350	c.287delC	c.(286-288)gccfs	p.A96fs	DOCK11_ENST00000276204.6_Frame_Shift_Del_p.A96fs	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	96	Interaction with activated CDC42. {ECO:0000250}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GAAAAGAGGGCCCAGAGTTTA	0.363																																																	0													81.0	75.0	77.0					X																	117676956		2202	4298	6500	SO:0001589	frameshift_variant	0			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.287delC	X.37:g.117676956delC	ENSP00000276202:p.Ala96fs		A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Frame_Shift_Del	DEL	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q97fs	ENST00000276202.7	37	c.287	CCDS35373.1	X																																																																																			DOCK11	-	pfam_DOCK_C/D_N	ENSG00000147251		0.363	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1		0.00	62	0	C	NM_144658		117676956	+1	tier1		no_errors	ENST00000276202	ensembl	human	known	74_37	frame_shift_del	15.38	11	2	DEL	1.000	-
DPP10	57628	genome.wustl.edu	37	2	116548723	116548723	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:116548723C>T	ENST00000410059.1	+	18	2078	c.1598C>T	c.(1597-1599)cCa>cTa	p.P533L	DPP10_ENST00000393147.2_Missense_Mutation_p.P537L|DPP10_ENST00000409163.1_Missense_Mutation_p.P483L|DPP10_ENST00000310323.8_Missense_Mutation_p.P526L	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	533						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						ATAGGAAAGCCAGAAATTAAA	0.328																																																	0													72.0	76.0	75.0					2																	116548723		2201	4299	6500	SO:0001583	missense	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.1598C>T	2.37:g.116548723C>T	ENSP00000386565:p.Pro533Leu		A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.P537L	ENST00000410059.1	37	c.1610	CCDS46400.1	2	.	.	.	.	.	.	.	.	.	.	C	0.992	-0.693613	0.03303	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.21031	2.03;2.05;2.03;2.03	5.54	4.65	0.58169	.	0.714928	0.12971	N	0.424153	T	0.12220	0.0297	N	0.12182	0.205	0.31707	N	0.63998	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.09377	0.002;0.004;0.001;0.001	T	0.11036	-1.0604	10	0.10111	T	0.7	-0.0046	13.628	0.62178	0.0:0.8391:0.1609:0.0	.	526;537;529;533	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	L	533;483;537;526;483	ENSP00000386565:P533L;ENSP00000387038:P483L;ENSP00000376855:P537L;ENSP00000309066:P526L	ENSP00000309066:P526L	P	+	2	0	DPP10	116265193	1.000000	0.71417	0.919000	0.36401	0.009000	0.06853	2.737000	0.47393	1.533000	0.49186	0.650000	0.86243	CCA	DPP10	-	NULL	ENSG00000175497		0.328	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DPP10	HGNC	protein_coding	OTTHUMT00000330580.4	-	0.00	45	0	C	NM_020868		116548723	+1	tier1	-	no_errors	ENST00000393147	ensembl	human	known	74_37	missense	13.51	32	5	SNP	0.954	T
EEF2	1938	genome.wustl.edu	37	19	3982335	3982335	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:3982335C>A	ENST00000309311.6	-	5	788	c.700G>T	c.(700-702)Gcc>Tcc	p.A234S	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	234	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGAACTTGGCCACATACATC	0.617																																					Colon(165;1804 1908 4071 6587 18799)												0													87.0	84.0	85.0					19																	3982335		2203	4300	6503	SO:0001583	missense	0			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.700G>T	19.37:g.3982335C>A	ENSP00000307940:p.Ala234Ser		B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.A234S	ENST00000309311.6	37	c.700	CCDS12117.1	19	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469321	0.43839	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.26660	1.72	5.81	4.78	0.61160	Protein synthesis factor, GTP-binding (1);	0.053959	0.64402	D	0.000001	T	0.13586	0.0329	N	0.10645	0.015	0.58432	D	0.999993	B	0.06786	0.001	B	0.04013	0.001	T	0.08638	-1.0712	10	0.17832	T	0.49	-65.1744	13.9528	0.64129	0.0:0.9272:0.0:0.0728	.	234	P13639	EF2_HUMAN	S	234	ENSP00000307940:A234S	ENSP00000307940:A234S	A	-	1	0	EEF2	3933335	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	3.837000	0.55820	1.466000	0.48025	0.561000	0.74099	GCC	EEF2	-	pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase	ENSG00000167658		0.617	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	-	0.00	39	0	C	NM_001961		3982335	-1	tier1	-	no_errors	ENST00000309311	ensembl	human	known	74_37	missense	16.67	20	4	SNP	1.000	A
EEPD1	80820	genome.wustl.edu	37	7	36324326	36324326	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr7:36324326C>T	ENST00000242108.4	+	5	1791	c.1073C>T	c.(1072-1074)gCg>gTg	p.A358V	EEPD1_ENST00000534978.1_Missense_Mutation_p.A358V	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	358			A -> S (in dbSNP:rs3815682).		DNA repair (GO:0006281)		DNA binding (GO:0003677)			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						CTATGGGACGCGGCTGCCGGC	0.657																																																	0													82.0	91.0	88.0					7																	36324326		2203	4300	6503	SO:0001583	missense	0			AK027386	CCDS34619.1	7p14.2	2007-12-07	2007-12-07		ENSG00000122547	ENSG00000122547			22223	protein-coding gene	gene with protein product							Standard	NM_030636		Approved	KIAA1706	uc003tfa.3	Q7L9B9	OTTHUMG00000154904	ENST00000242108.4:c.1073C>T	7.37:g.36324326C>T	ENSP00000242108:p.Ala358Val		Q96K64|Q9C0F7	Missense_Mutation	SNP	pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH	p.A358V	ENST00000242108.4	37	c.1073	CCDS34619.1	7	.	.	.	.	.	.	.	.	.	.	C	12.88	2.070873	0.36566	.	.	ENSG00000122547	ENST00000242108;ENST00000534978	D;D	0.95103	-3.61;-3.61	4.75	4.75	0.60458	Endonuclease/exonuclease/phosphatase (2);	1.063010	0.07220	N	0.860795	D	0.84361	0.5455	N	0.00823	-1.155	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.66118	-0.6003	10	0.18276	T	0.48	-0.6984	15.9503	0.79830	0.0:1.0:0.0:0.0	.	358	Q7L9B9	EEPD1_HUMAN	V	358	ENSP00000242108:A358V;ENSP00000442692:A358V	ENSP00000242108:A358V	A	+	2	0	EEPD1	36290851	0.001000	0.12720	0.006000	0.13384	0.015000	0.08874	1.238000	0.32707	2.352000	0.79861	0.462000	0.41574	GCG	EEPD1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	ENSG00000122547		0.657	EEPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEPD1	HGNC	protein_coding	OTTHUMT00000337602.1		0.00	84	0	C	NM_030636		36324326	+1			no_errors	ENST00000242108	ensembl	human	known	74_37	missense	5.26	54	3	SNP	0.021	T
MRAP	56246	genome.wustl.edu	37	21	33680842	33680842	+	Intron	SNP	T	T	G			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr21:33680842T>G	ENST00000399784.2	+	4	393				MRAP_ENST00000303645.5_Intron|AP000266.7_ENST00000450936.1_RNA|MRAP_ENST00000399786.3_Intron|MRAP_ENST00000497833.1_Intron|MRAP_ENST00000339944.4_Intron	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein						brown fat cell differentiation (GO:0050873)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			endometrium(1)|large_intestine(2)|lung(3)	6						TGTTTTATGTTAATTCTGTTG	0.458																																																	0																																										SO:0001627	intron_variant	0			AF454915	CCDS13612.1, CCDS13613.1	21q22.1	2005-10-30	2005-02-01	2005-02-07	ENSG00000170262	ENSG00000170262			1304	protein-coding gene	gene with protein product		609196	"""chromosome 21 open reading frame 61"""	C21orf61		12036298, 15654338	Standard	NM_178817		Approved	B27, FALP	uc002ypj.3	Q8TCY5	OTTHUMG00000085309	ENST00000399784.2:c.206+1792T>G	21.37:g.33680842T>G			Q5EBR3|Q8TDB7|Q8WXC1|Q8WXC2	RNA	SNP	-	NULL	ENST00000399784.2	37	NULL	CCDS13613.1	21																																																																																			AP000266.7	-	-	ENSG00000232623		0.458	MRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000232623	Clone_based_vega_gene	protein_coding	OTTHUMT00000193092.1	-	0.00	68	0	T	NM_178817		33680842	-1	tier1	-	no_errors	ENST00000450936	ensembl	human	known	74_37	rna	30.77	27	12	SNP	0.004	G
RP11-403I13.8	0	genome.wustl.edu	37	1	149287783	149287783	+	lincRNA	SNP	A	A	G	rs138496340		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:149287783A>G	ENST00000433084.1	+	0	333				RP11-403I13.7_ENST00000424684.1_lincRNA|RNU1-143P_ENST00000516296.1_RNA																							GAGGTGAGACAGGGGCACCCT	0.652																																																	0																																												0																															1.37:g.149287783A>G				RNA	SNP	-	NULL	ENST00000433084.1	37	NULL		1																																																																																			RP11-403I13.8	-	-	ENSG00000235999		0.652	RP11-403I13.8-001	KNOWN	basic	lincRNA	ENSG00000235999	Clone_based_vega_gene	lincRNA	OTTHUMT00000099633.1	-	0.00	52	0	A			149287783	+1	tier1	rs138496340	no_errors	ENST00000433084	ensembl	human	known	74_37	rna	13.64	19	3	SNP	0.002	G
AASDHPPT	60496	genome.wustl.edu	37	11	105967443	105967443	+	Intron	SNP	A	A	G			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:105967443A>G	ENST00000278618.4	+	6	987				RP11-677I18.3_ENST00000527594.1_RNA|RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase						macromolecule biosynthetic process (GO:0009059)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	holo-[acyl-carrier-protein] synthase activity (GO:0008897)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		CAATATAACAATAAGGTAATC	0.303																																																	0													81.0	80.0	81.0					11																	105967443		2201	4299	6500	SO:0001627	intron_variant	0			AF302110	CCDS31664.1	11q22	2010-12-09			ENSG00000149313	ENSG00000149313	1.2.1.31		14235	protein-coding gene	gene with protein product		607756				12815048, 11286508	Standard	NM_015423		Approved	LYS5, CGI-80, AASD-PPT	uc001pjc.1	Q9NRN7	OTTHUMG00000166253	ENST00000278618.4:c.766-27A>G	11.37:g.105967443A>G			B2R6D1|B4DDW7|Q9C068|Q9P0Q3|Q9UG80|Q9Y389	RNA	SNP	-	NULL	ENST00000278618.4	37	NULL	CCDS31664.1	11																																																																																			RP11-677I18.3	-	-	ENSG00000254433		0.303	AASDHPPT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254433	Clone_based_vega_gene	protein_coding	OTTHUMT00000388734.1	-	0.00	42	0	A	NM_015423		105967443	-1	tier1	-	no_errors	ENST00000527594	ensembl	human	known	74_37	rna	48.28	15	14	SNP	0.000	G
RP11-133K1.6	0	genome.wustl.edu	37	15	40605506	40605506	+	lincRNA	DEL	G	G	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr15:40605506delG	ENST00000559030.1	+	0	691																											CAGTGCATCAGGGATTGCCAC	0.403																																																	0																																												0																															15.37:g.40605506delG				RNA	DEL	-	NULL	ENST00000559030.1	37	NULL		15																																																																																			RP11-133K1.6	-	-	ENSG00000259198		0.403	RP11-133K1.6-001	KNOWN	basic	lincRNA	ENSG00000259198	Clone_based_vega_gene	lincRNA	OTTHUMT00000418442.1		0.00	26	0	G			40605506	+1	tier1		no_errors	ENST00000559030	ensembl	human	known	74_37	rna	28.57	5	2	DEL	0.998	-
ENTHD1	150350	genome.wustl.edu	37	22	40140045	40140045	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr22:40140045A>G	ENST00000325157.6	-	7	1713	c.1463T>C	c.(1462-1464)cTc>cCc	p.L488P		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	488										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CAGTAGATTGAGGCTATCATT	0.408																																																	0													65.0	68.0	67.0					22																	40140045		2203	4300	6503	SO:0001583	missense	0			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1463T>C	22.37:g.40140045A>G	ENSP00000317431:p.Leu488Pro		B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.L488P	ENST00000325157.6	37	c.1463	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	A	2.182	-0.387416	0.04932	.	.	ENSG00000176177	ENST00000325157	T	0.34472	1.36	5.75	3.58	0.41010	.	1.868410	0.02947	N	0.141278	T	0.37293	0.0998	L	0.51422	1.61	0.09310	N	1	B	0.18741	0.03	B	0.18871	0.023	T	0.23833	-1.0177	10	0.46703	T	0.11	-0.0399	7.8702	0.29561	0.8305:0.0:0.1695:0.0	.	488	Q8IYW4	ENTD1_HUMAN	P	488	ENSP00000317431:L488P	ENSP00000317431:L488P	L	-	2	0	ENTHD1	38469991	0.030000	0.19436	0.002000	0.10522	0.054000	0.15201	0.627000	0.24506	0.964000	0.38108	0.528000	0.53228	CTC	ENTHD1	-	NULL	ENSG00000176177		0.408	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	HGNC	protein_coding	OTTHUMT00000321302.1	-	0.00	52	0	A	NM_152512		40140045	-1	tier1	-	no_errors	ENST00000325157	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.001	G
EPHA5	2044	genome.wustl.edu	37	4	66230783	66230783	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr4:66230783G>T	ENST00000273854.3	-	12	2788	c.2188C>A	c.(2188-2190)Cag>Aag	p.Q730K	EPHA5_ENST00000354839.4_Missense_Mutation_p.Q708K|EPHA5_ENST00000432638.2_Missense_Mutation_p.Q567K|EPHA5_ENST00000511294.1_Missense_Mutation_p.Q731K	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	730	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)	p.Q730K(2)		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						TGATCAAACTGTCCCATGATA	0.388										TSP Lung(17;0.13)																																							2	Substitution - Missense(2)	lung(2)											230.0	219.0	223.0					4																	66230783		2203	4300	6503	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.2188C>A	4.37:g.66230783G>T	ENSP00000273854:p.Gln730Lys		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.Q730K	ENST00000273854.3	37	c.2188	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.255840	0.95336	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	5.76	5.76	0.90799	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000034	T	0.80824	0.4697	N	0.04245	-0.25	0.80722	D	1	D;D;D;D	0.71674	0.993;0.997;0.992;0.998	D;D;D;D	0.87578	0.983;0.998;0.971;0.978	D	0.86023	0.1508	10	0.87932	D	0	.	19.9664	0.97271	0.0:0.0:1.0:0.0	.	709;731;708;730	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	K	730;567;708;731	ENSP00000273854:Q730K;ENSP00000389208:Q567K;ENSP00000346899:Q708K;ENSP00000427638:Q731K	ENSP00000273854:Q730K	Q	-	1	0	EPHA5	65913378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.824000	0.99380	2.724000	0.93272	0.650000	0.86243	CAG	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	ENSG00000145242		0.388	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2		0.00	112	0	G	NM_004439		66230783	-1			no_errors	ENST00000273854	ensembl	human	known	74_37	missense	7.50	37	3	SNP	1.000	T
FAM9A	171482	genome.wustl.edu	37	X	8761714	8761714	+	Silent	SNP	A	A	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chrX:8761714A>C	ENST00000543214.1	-	8	1050	c.915T>G	c.(913-915)ctT>ctG	p.L305L	FAM9A_ENST00000381003.3_Silent_p.L305L	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	305						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				GTAATTGCTCAAGTAGCGGCT	0.378																																																	0													122.0	106.0	112.0					X																	8761714		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.915T>G	X.37:g.8761714A>C			B7ZLH5|Q2M2D1	Silent	SNP	NULL	p.L305	ENST00000543214.1	37	c.915	CCDS14131.1	X																																																																																			FAM9A	-	NULL	ENSG00000183304		0.378	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM9A	HGNC	protein_coding	OTTHUMT00000055697.1	-	0.00	34	0	A	NM_174951		8761714	-1	tier1	-	no_errors	ENST00000381003	ensembl	human	known	74_37	silent	20.00	12	3	SNP	0.004	C
FASTKD5	60493	genome.wustl.edu	37	20	3128170	3128170	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr20:3128170G>A	ENST00000380266.3	-	2	1868	c.1547C>T	c.(1546-1548)aCc>aTc	p.T516I	UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	516					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						ACCATCGAGGGTATATAGTTC	0.443																																																	0													47.0	43.0	45.0					20																	3128170		2203	4300	6503	SO:0001583	missense	0			BC007413	CCDS13048.1	20p13	2006-07-07			ENSG00000215251	ENSG00000215251			25790	protein-coding gene	gene with protein product		614272				11347906	Standard	NM_021826		Approved	FLJ13149	uc002whz.4	Q7L8L6	OTTHUMG00000031727	ENST00000380266.3:c.1547C>T	20.37:g.3128170G>A	ENSP00000369618:p.Thr516Ile		Q96JN3|Q9H5D1|Q9H8Y3	Missense_Mutation	SNP	pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP	p.T516I	ENST00000380266.3	37	c.1547	CCDS13048.1	20	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054071	0.36277	.	.	ENSG00000215251	ENST00000380266	T	0.44881	0.91	5.09	5.09	0.68999	FAST kinase-like protein, subdomain 2 (1);	0.000000	0.85682	D	0.000000	T	0.62938	0.2469	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59632	-0.7418	10	0.35671	T	0.21	.	18.8582	0.92262	0.0:0.0:1.0:0.0	.	516	Q7L8L6	FAKD5_HUMAN	I	516	ENSP00000369618:T516I	ENSP00000369618:T516I	T	-	2	0	FASTKD5	3076170	1.000000	0.71417	0.998000	0.56505	0.017000	0.09413	9.495000	0.97964	2.528000	0.85240	0.313000	0.20887	ACC	FASTKD5	-	pfam_FAST_2	ENSG00000215251		0.443	FASTKD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASTKD5	HGNC	protein_coding	OTTHUMT00000077701.2		0.00	14	0	G	NM_021826		3128170	-1			no_errors	ENST00000380266	ensembl	human	known	74_37	missense	16.67	10	2	SNP	1.000	A
FBXO18	84893	genome.wustl.edu	37	10	5960397	5960397	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr10:5960397G>T	ENST00000362091.4	+	13	2171	c.2056G>T	c.(2056-2058)Gcc>Tcc	p.A686S	FBXO18_ENST00000397269.3_Missense_Mutation_p.A173S|FBXO18_ENST00000379999.5_Missense_Mutation_p.A737S	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	686					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						TGCGGTCAACGCCCTGTTCAC	0.537																																																	0													146.0	128.0	134.0					10																	5960397		2203	4300	6503	SO:0001583	missense	0			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.2056G>T	10.37:g.5960397G>T	ENSP00000355415:p.Ala686Ser		Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom	p.A737S	ENST00000362091.4	37	c.2209	CCDS7072.1	10	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972464	0.92919	.	.	ENSG00000134452	ENST00000397269;ENST00000362091;ENST00000379999	T;T;T	0.79749	-1.3;-1.3;-1.3	5.88	5.88	0.94601	.	0.050130	0.85682	D	0.000000	D	0.83339	0.5233	L	0.28054	0.825	0.54753	D	0.999983	D;D;D	0.76494	0.994;0.999;0.999	P;D;D	0.77557	0.89;0.977;0.99	D	0.84243	0.0473	10	0.59425	D	0.04	-17.997	14.457	0.67423	0.072:0.0:0.928:0.0	.	737;686;612	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	S	173;686;737	ENSP00000380439:A173S;ENSP00000355415:A686S;ENSP00000369335:A737S	ENSP00000355415:A686S	A	+	1	0	FBXO18	6000403	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.673000	0.68109	2.791000	0.96007	0.650000	0.86243	GCC	FBXO18	-	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase	ENSG00000134452		0.537	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO18	HGNC	protein_coding	OTTHUMT00000046596.1	-	0.00	28	0	G	NM_032807		5960397	+1	tier1	-	no_errors	ENST00000379999	ensembl	human	known	74_37	missense	25.00	9	3	SNP	1.000	T
FER	2241	genome.wustl.edu	37	5	108516448	108516448	+	Splice_Site	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr5:108516448G>T	ENST00000281092.4	+	18	2433	c.2049G>T	c.(2047-2049)agG>agT	p.R683S	FER_ENST00000438717.2_Splice_Site_p.R508S	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	683	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cell proliferation (GO:0008283)|cell-cell adhesion mediated by cadherin (GO:0044331)|cellular response to insulin stimulus (GO:0032869)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to reactive oxygen species (GO:0034614)|chemotaxis (GO:0006935)|cytokine-mediated signaling pathway (GO:0019221)|diapedesis (GO:0050904)|extracellular matrix-cell signaling (GO:0035426)|Fc-epsilon receptor signaling pathway (GO:0038095)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|interleukin-6-mediated signaling pathway (GO:0070102)|intracellular signal transduction (GO:0035556)|Kit signaling pathway (GO:0038109)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of mast cell activation involved in immune response (GO:0033007)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of fibroblast migration (GO:0010762)|regulation of lamellipodium assembly (GO:0010591)|regulation of protein phosphorylation (GO:0001932)|response to lipopolysaccharide (GO:0032496)|response to platelet-derived growth factor (GO:0036119)|substrate adhesion-dependent cell spreading (GO:0034446)|tyrosine phosphorylation of Stat3 protein (GO:0042503)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|nucleus (GO:0005634)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|lipid binding (GO:0008289)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGTAACCTAGGGACCTTGCTG	0.373																																					Colon(146;1051 1799 9836 27344 47401)												0													118.0	115.0	116.0					5																	108516448		2202	4300	6502	SO:0001630	splice_region_variant	0			J03358	CCDS4098.1	5q21	2013-02-14	2008-02-07		ENSG00000151422	ENSG00000151422	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""SH2 domain containing"""	3655	protein-coding gene	gene with protein product	"""phosphoprotein NCP94"", ""protein phosphatase 1, regulatory subunit 74"""	176942					Standard	NM_005246		Approved	TYK3, PPP1R74	uc003kop.1	P16591	OTTHUMG00000128751	ENST00000281092.4:c.2049-1G>T	5.37:g.108516448G>T			B2RCR4|B4DSQ2|H2FLB8	Missense_Mutation	SNP	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom	p.R683S	ENST00000281092.4	37	c.2049	CCDS4098.1	5	.	.	.	.	.	.	.	.	.	.	G	19.34	3.809114	0.70797	.	.	ENSG00000151422	ENST00000281092;ENST00000438717	D;D	0.88431	-2.38;-2.38	5.24	5.24	0.73138	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96147	0.8744	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97166	0.9841	9	.	.	.	.	14.1023	0.65065	0.0744:0.0:0.9256:0.0	.	683	P16591	FER_HUMAN	S	683;508	ENSP00000281092:R683S;ENSP00000394297:R508S	.	R	+	3	2	FER	108544347	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.972000	0.56838	2.434000	0.82447	0.650000	0.86243	AGG	FER	-	pirsf_Tyr_kinase_non-rcpt_Fes_subgr,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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000151422		0.373	FER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER	HGNC	protein_coding	OTTHUMT00000250664.1		0.00	105	0	G	NM_005246	Missense_Mutation	108516448	+1			no_errors	ENST00000281092	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
FERMT2	10979	genome.wustl.edu	37	14	53327793	53327794	+	Intron	INS	-	-	A	rs193081218|rs566455066	byFrequency	TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr14:53327793_53327794insA	ENST00000395631.2	-	13	1819				FERMT2_ENST00000557255.1_5'UTR|FERMT2_ENST00000343279.4_Intron|FERMT2_ENST00000553373.1_Intron|FERMT2_ENST00000399304.3_Intron|FERMT2_ENST00000341590.3_Intron			Q96AC1	FERM2_HUMAN	fermitin family member 2						cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|focal adhesion assembly (GO:0048041)|integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|protein localization to membrane (GO:0072657)|regulation of cell shape (GO:0008360)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|filamentous actin (GO:0031941)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					GAAGCAGAAAGAAAAAAAAAGG	0.356																																																	0																																										SO:0001627	intron_variant	0			Z24725	CCDS9713.1, CCDS45107.1, CCDS45108.1	14q22.1	2013-01-10	2010-06-24	2007-12-14	ENSG00000073712	ENSG00000073712		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	15767	protein-coding gene	gene with protein product	"""kindlin-2"""	607746	"""pleckstrin homology domain containing, family C (with FERM domain) member 1"", ""fermitin family homolog 2 (Drosophila)"""	PLEKHC1		8175911, 12697302	Standard	NM_006832		Approved	mig-2, KIND2, UNC112B	uc001xac.3	Q96AC1	OTTHUMG00000140309	ENST00000395631.2:c.1603-610->T	14.37:g.53327802_53327802dupA			B5TJY2|Q14840|Q86TY7	RNA	INS	-	NULL	ENST00000395631.2	37	NULL	CCDS9713.1	14																																																																																			FERMT2	-	-	ENSG00000073712		0.356	FERMT2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FERMT2	HGNC	protein_coding	OTTHUMT00000276907.2		0.00	41	0	-	NM_006832		53327794	-1	tier1		no_errors	ENST00000557255	ensembl	human	known	74_37	rna	12.50	21	3	INS	1.000:1.000	A
FGD5	152273	genome.wustl.edu	37	3	14862129	14862129	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:14862129G>T	ENST00000285046.5	+	1	1661	c.1551G>T	c.(1549-1551)gaG>gaT	p.E517D	FGD5_ENST00000543601.1_Missense_Mutation_p.E276D	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	517					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTGCCGCAGAGGAGGTGGGAA	0.612																																																	0													24.0	27.0	26.0					3																	14862129		1943	4128	6071	SO:0001583	missense	0			AK097276	CCDS46767.1	3p25.1	2013-01-10			ENSG00000154783	ENSG00000154783		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19117	protein-coding gene	gene with protein product		614788					Standard	NM_152536		Approved	ZFYVE23, FLJ39957, FLJ00274	uc003bzc.3	Q6ZNL6	OTTHUMG00000155556	ENST00000285046.5:c.1551G>T	3.37:g.14862129G>T	ENSP00000285046:p.Glu517Asp		B3KVQ3|Q6MZY1|Q7Z303|Q8IYP3|Q8N861|Q8N8G4	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.E517D	ENST00000285046.5	37	c.1551	CCDS46767.1	3	.	.	.	.	.	.	.	.	.	.	G	8.212	0.800636	0.16397	.	.	ENSG00000154783	ENST00000285046;ENST00000543601	T;T	0.76186	-1.0;-0.8	5.05	-4.04	0.04010	.	0.633028	0.14456	N	0.318498	T	0.42177	0.1191	N	0.08118	0	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.06405	0.002;0.002	T	0.21314	-1.0249	10	0.22706	T	0.39	-0.607	1.6946	0.02859	0.4545:0.2621:0.1441:0.1392	.	276;517	B7ZM68;Q6ZNL6	.;FGD5_HUMAN	D	517;276	ENSP00000285046:E517D;ENSP00000445949:E276D	ENSP00000285046:E517D	E	+	3	2	FGD5	14837133	0.022000	0.18835	0.000000	0.03702	0.001000	0.01503	0.733000	0.26087	-0.689000	0.05149	-0.172000	0.13284	GAG	FGD5	-	NULL	ENSG00000154783		0.612	FGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD5	HGNC	protein_coding	OTTHUMT00000340628.1	-	0.00	90	0	G	NM_152536		14862129	+1	tier1	-	no_errors	ENST00000285046	ensembl	human	known	74_37	missense	10.81	33	4	SNP	0.000	T
FIP1L1	81608	genome.wustl.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-	rs143671659		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)agafs	p.R483fs	FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing (GO:0006397)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.47			T	PDGFRA	idiopathic hypereosinophilic syndrome																																			Dom	yes		4	4q12	81608	FIP1 like 1 (S. cerevisiae)		L	2	Deletion - Frameshift(2)	large_intestine(1)|kidney(1)																																								SO:0001589	frameshift_variant	0			AF161429	CCDS3491.1, CCDS47055.1, CCDS47056.1	4q12	2013-06-18	2013-06-18		ENSG00000145216	ENSG00000145216			19124	protein-coding gene	gene with protein product		607686	"""FIP1 like 1 (S. cerevisiae)"", ""FIP1L1 cleavage and polyadenylation specific factor subunit"""			11230166, 14749727	Standard	NM_030917		Approved	DKFZp586K0717, FIP1	uc003hae.3	Q6UN15	OTTHUMG00000128701	ENST00000337488.6:c.1447_1448delAG	4.37:g.54319258_54319259delAG	ENSP00000336752:p.Arg483fs		B4DIR3|G3XAD6|Q0VGE0|Q499Y4|Q49AU3|Q7Z608|Q8WVN3|Q96F80|Q9H077	Frame_Shift_Del	DEL	pfam_Fip1	p.E486fs	ENST00000337488.6	37	c.1447_1448	CCDS3491.1	4																																																																																			FIP1L1	-	NULL	ENSG00000145216		0.470	FIP1L1-001	KNOWN	basic|CCDS	protein_coding	FIP1L1	HGNC	protein_coding	OTTHUMT00000250602.1		0.00	30	0	AG	NM_030917		54319249	+1	tier1		no_errors	ENST00000337488	ensembl	human	known	74_37	frame_shift_del	17.39	19	4	DEL	0.975:0.991	-
FLG	2312	genome.wustl.edu	37	1	152277995	152277995	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:152277995C>A	ENST00000368799.1	-	3	9402	c.9367G>T	c.(9367-9369)Ggg>Tgg	p.G3123W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3123	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGTGGTACCCCTGCCTTCCT	0.607									Ichthyosis																																								0													88.0	125.0	113.0					1																	152277995		2191	4286	6477	SO:0001583	missense	0	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.9367G>T	1.37:g.152277995C>A	ENSP00000357789:p.Gly3123Trp		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin	p.G3123W	ENST00000368799.1	37	c.9367	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	C	9.668	1.145889	0.21288	.	.	ENSG00000143631	ENST00000368799	T	0.01745	4.66	3.66	-3.45	0.04781	.	.	.	.	.	T	0.02688	0.0081	M	0.79805	2.47	0.09310	N	1	D	0.76494	0.999	D	0.63957	0.92	T	0.16719	-1.0393	9	0.87932	D	0	.	6.1659	0.20390	0.0:0.3714:0.4383:0.1903	.	3123	P20930	FILA_HUMAN	W	3123	ENSP00000357789:G3123W	ENSP00000357789:G3123W	G	-	1	0	FLG	150544619	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.738000	0.04871	-0.499000	0.06623	0.449000	0.29647	GGG	FLG	-	NULL	ENSG00000143631		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	-	0.00	60	0	C	NM_002016		152277995	-1	tier1	-	no_errors	ENST00000368799	ensembl	human	known	74_37	missense	15.15	28	5	SNP	0.000	A
FTSJ1	24140	genome.wustl.edu	37	X	48340858	48340858	+	Silent	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chrX:48340858G>T	ENST00000348411.2	+	10	1046	c.723G>T	c.(721-723)ctG>ctT	p.L241L	FTSJ1_ENST00000456787.1_Silent_p.L239L|FTSJ1_ENST00000396894.4_Silent_p.L104L|FTSJ1_ENST00000019019.2_Silent_p.L239L|FTSJ1_ENST00000496365.1_3'UTR	NM_012280.2	NP_036412.1			FtsJ RNA methyltransferase homolog 1 (E. coli)											breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GTGGGGACCTGAGCTCCTATG	0.572																																																	0													136.0	90.0	105.0					X																	48340858		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ005892	CCDS14294.1, CCDS14295.1, CCDS75972.1	Xp11.23	2012-06-12	2012-06-12		ENSG00000068438	ENSG00000068438			13254	protein-coding gene	gene with protein product	"""tRNA methyltransferase 7 homolog (S. cerevisiae)"""	300499	"""mental retardation, X-linked 9"", ""mental retardation, X-linked 44"""	MRX9, MRX44		15342698, 15162322	Standard	XR_246715		Approved	JM23, CDLIV, SPB1, TRM7, TRMT7	uc004djo.1	Q9UET6	OTTHUMG00000024118	ENST00000348411.2:c.723G>T	X.37:g.48340858G>T				Silent	SNP	pfam_rRNA_MeTrfase_FtsJ_dom	p.L241	ENST00000348411.2	37	c.723	CCDS14294.1	X																																																																																			FTSJ1	-	NULL	ENSG00000068438		0.572	FTSJ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FTSJ1	HGNC	protein_coding	OTTHUMT00000060726.1	-	0.00	31	0	G			48340858	+1	tier1	-	no_errors	ENST00000348411	ensembl	human	known	74_37	silent	25.00	9	3	SNP	1.000	T
GABARAPL2	11345	genome.wustl.edu	37	16	75611681	75611681	+	3'UTR	SNP	A	A	G			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr16:75611681A>G	ENST00000037243.2	+	0	904				GABARAPL2_ENST00000565985.1_3'UTR|RP11-77K12.8_ENST00000564489.1_RNA|GABARAPL2_ENST00000563744.1_3'UTR	NM_007285.6	NP_009216.1	P60520	GBRL2_HUMAN	GABA(A) receptor-associated protein-like 2						autophagy (GO:0006914)|intra-Golgi vesicle-mediated transport (GO:0006891)|negative regulation of proteasomal protein catabolic process (GO:1901799)|positive regulation of ATPase activity (GO:0032781)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular (GO:0005622)	ATPase binding (GO:0051117)|beta-tubulin binding (GO:0048487)|GABA receptor binding (GO:0050811)|microtubule binding (GO:0008017)|SNARE binding (GO:0000149)			lung(1)|ovary(1)	2						CTTCACTAGAATATGCCAACT	0.318																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF087848	CCDS10921.1	16q22.1	2014-02-12			ENSG00000034713	ENSG00000034713			13291	protein-coding gene	gene with protein product		607452				11414770	Standard	NM_007285		Approved	GEF2, ATG8, GATE16, GATE-16, ATG8C	uc002fen.3	P60520	OTTHUMG00000137613	ENST00000037243.2:c.*414A>G	16.37:g.75611681A>G			O08765|Q6FG91|Q9DCP8|Q9UQF7	RNA	SNP	-	NULL	ENST00000037243.2	37	NULL	CCDS10921.1	16																																																																																			GABARAPL2	-	-	ENSG00000034713		0.318	GABARAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABARAPL2	HGNC	protein_coding	OTTHUMT00000269029.1	-	0.00	33	0	A	NM_007285		75611681	+1	tier1	-	no_errors	ENST00000565985	ensembl	human	known	74_37	rna	45.45	18	15	SNP	1.000	G
GALNT8	26290	genome.wustl.edu	37	12	4872542	4872542	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:4872542G>A	ENST00000252318.2	+	8	1820	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	495					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCACACCATCGTGGGCTATGG	0.418																																					Colon(108;631 1558 7270 20097 39846)												0													115.0	112.0	113.0					12																	4872542		2203	4300	6503	SO:0001583	missense	0			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.1483G>A	12.37:g.4872542G>A	ENSP00000252318:p.Val495Met		B2RU02	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.V495M	ENST00000252318.2	37	c.1483	CCDS8533.1	12	.	.	.	.	.	.	.	.	.	.	G	8.697	0.908720	0.17833	.	.	ENSG00000130035	ENST00000252318	T	0.32272	1.46	4.17	3.28	0.37604	Ricin B-related lectin (1);	0.732091	0.10864	U	0.625724	T	0.22322	0.0538	L	0.55834	1.745	0.09310	N	1	P	0.45428	0.858	B	0.31101	0.124	T	0.16778	-1.0391	10	0.46703	T	0.11	.	6.5304	0.22324	0.2174:0.0:0.7826:0.0	.	495	Q9NY28	GALT8_HUMAN	M	495	ENSP00000252318:V495M	ENSP00000252318:V495M	V	+	1	0	GALNT8	4742803	0.068000	0.21057	0.273000	0.24645	0.287000	0.27160	0.611000	0.24268	0.965000	0.38133	-0.137000	0.14449	GTG	GALNT8	-	superfamily_Ricin_B_lectin	ENSG00000130035		0.418	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	-	0.00	53	0	G	NM_017417		4872542	+1	tier1	-	no_errors	ENST00000252318	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.077	A
GAS2	2620	genome.wustl.edu	37	11	22747882	22747882	+	Silent	SNP	G	G	T	rs201723000	byFrequency	TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:22747882G>T	ENST00000454584.2	+	4	617	c.312G>T	c.(310-312)tcG>tcT	p.S104S	GAS2_ENST00000433790.1_Silent_p.S104S|GAS2_ENST00000278187.3_Silent_p.S104S	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	104	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						GTGCACCCTCGGGCTCCTTTT	0.418																																																	0													125.0	128.0	127.0					11																	22747882		2203	4300	6503	SO:0001819	synonymous_variant	0			BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.312G>T	11.37:g.22747882G>T			B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Silent	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.S104	ENST00000454584.2	37	c.312	CCDS7858.1	11																																																																																			GAS2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000148935		0.418	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2	HGNC	protein_coding	OTTHUMT00000387717.1	-	0.00	77	0	G	NM_177553		22747882	+1	tier1	-	no_errors	ENST00000278187	ensembl	human	known	74_37	silent	8.62	53	5	SNP	0.961	T
GCLC	2729	genome.wustl.edu	37	6	53373988	53373988	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr6:53373988T>C	ENST00000229416.6	-	7	1297	c.814A>G	c.(814-816)Atc>Gtc	p.I272V	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	272					apoptotic mitochondrial changes (GO:0008637)|cell redox homeostasis (GO:0045454)|cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|L-ascorbic acid metabolic process (GO:0019852)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|regulation of blood vessel size (GO:0050880)|regulation of mitochondrial depolarization (GO:0051900)|response to arsenic-containing substance (GO:0046685)|response to heat (GO:0009408)|response to hormone (GO:0009725)|response to nitrosative stress (GO:0051409)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|glutamate-cysteine ligase complex (GO:0017109)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|coenzyme binding (GO:0050662)|glutamate binding (GO:0016595)|glutamate-cysteine ligase activity (GO:0004357)|magnesium ion binding (GO:0000287)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|Vitamin E(DB00163)	ATTGGACAGATAGTAGCCAAC	0.343																																																	0													91.0	87.0	89.0					6																	53373988		2203	4300	6503	SO:0001583	missense	0			M90656	CCDS4952.1, CCDS75471.1	6p12	2008-02-05				ENSG00000001084	6.3.2.2		4311	protein-coding gene	gene with protein product		606857		GLCLC, GLCL		1350904	Standard	NM_001498		Approved	GCS	uc003pbw.2	P48506		ENST00000229416.6:c.814A>G	6.37:g.53373988T>C	ENSP00000229416:p.Ile272Val		Q14399	Missense_Mutation	SNP	pfam_GCS	p.I272V	ENST00000229416.6	37	c.814	CCDS4952.1	6	.	.	.	.	.	.	.	.	.	.	T	10.88	1.475065	0.26511	.	.	ENSG00000001084	ENST00000229416	T	0.73575	-0.76	5.17	5.17	0.71159	.	0.094022	0.64402	D	0.000001	T	0.41465	0.1160	N	0.11201	0.11	0.80722	D	1	B	0.13145	0.007	B	0.08055	0.003	T	0.37731	-0.9693	10	0.27785	T	0.31	.	15.3066	0.73995	0.0:0.0:0.0:1.0	.	272	P48506	GSH1_HUMAN	V	272	ENSP00000229416:I272V	ENSP00000229416:I272V	I	-	1	0	GCLC	53481947	1.000000	0.71417	0.999000	0.59377	0.965000	0.64279	4.032000	0.57274	2.085000	0.62840	0.455000	0.32223	ATC	GCLC	-	pfam_GCS	ENSG00000001084		0.343	GCLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCLC	HGNC	protein_coding	OTTHUMT00000359710.2	-	0.00	46	0	T			53373988	-1	tier1	-	no_errors	ENST00000229416	ensembl	human	known	74_37	missense	20.59	27	7	SNP	0.997	C
GON4L	54856	genome.wustl.edu	37	1	155733171	155733171	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:155733171G>T	ENST00000368331.1	-	22	4706	c.4658C>A	c.(4657-4659)gCt>gAt	p.A1553D	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000437809.1_Missense_Mutation_p.A1553D|GON4L_ENST00000271883.5_Missense_Mutation_p.A1553D	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1553	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGGCTTCTCAGCAGAGTCTCC	0.498																																																	0													49.0	51.0	50.0					1																	155733171		1977	4174	6151	SO:0001583	missense	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.4658C>A	1.37:g.155733171G>T	ENSP00000357315:p.Ala1553Asp		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.A1553D	ENST00000368331.1	37	c.4658		1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824106	0.71143	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883	T;T;T	0.11063	2.81;2.81;2.81	4.63	2.75	0.32379	.	0.524413	0.18914	N	0.127667	T	0.06462	0.0166	L	0.47716	1.5	0.09310	N	1	P;P;D	0.54601	0.947;0.945;0.967	P;P;P	0.52454	0.544;0.503;0.699	T	0.28235	-1.0050	10	0.24483	T	0.36	.	9.7383	0.40401	0.1721:0.0:0.8279:0.0	.	749;1553;1553	Q1ED43;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	D	1553	ENSP00000396117:A1553D;ENSP00000357315:A1553D;ENSP00000271883:A1553D	ENSP00000271883:A1553D	A	-	2	0	GON4L	153999795	0.141000	0.22595	0.031000	0.17742	0.479000	0.33129	2.695000	0.47043	0.679000	0.31345	0.561000	0.74099	GCT	GON4L	-	NULL	ENSG00000116580		0.498	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		-	0.00	101	0	G	NM_032292		155733171	-1	tier1	-	no_errors	ENST00000368331	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.061	T
GON4L	54856	genome.wustl.edu	37	1	155753864	155753864	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:155753864C>A	ENST00000368331.1	-	14	1853	c.1805G>T	c.(1804-1806)gGa>gTa	p.G602V	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000437809.1_Missense_Mutation_p.G602V|GON4L_ENST00000271883.5_Missense_Mutation_p.G602V|GON4L_ENST00000361040.5_Missense_Mutation_p.G602V	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	602					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTTGGAGAATCCCATCTCATC	0.498																																																	0													147.0	118.0	128.0					1																	155753864		2203	4299	6502	SO:0001583	missense	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1805G>T	1.37:g.155753864C>A	ENSP00000357315:p.Gly602Val		B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.G602V	ENST00000368331.1	37	c.1805		1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236084	0.79800	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040;ENST00000368327	T;T;T;T	0.14266	2.7;2.7;2.7;2.52	4.57	4.57	0.56435	.	0.135280	0.49305	D	0.000149	T	0.26738	0.0654	L	0.59436	1.845	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;1.0;1.0;0.999;0.999	T	0.01468	-1.1347	10	0.59425	D	0.04	.	17.4967	0.87719	0.0:1.0:0.0:0.0	.	382;602;602;602;602	Q6PHZ4;A4PB68;Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;.;.;GON4L_HUMAN;.	V	602;602;602;602;602;81	ENSP00000396117:G602V;ENSP00000357315:G602V;ENSP00000271883:G602V;ENSP00000354322:G602V	ENSP00000271883:G602V	G	-	2	0	GON4L	154020488	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	3.708000	0.54845	2.534000	0.85438	0.591000	0.81541	GGA	GON4L	-	NULL	ENSG00000116580		0.498	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding			0.00	108	0	C	NM_032292		155753864	-1			no_errors	ENST00000368331	ensembl	human	known	74_37	missense	5.63	67	4	SNP	1.000	A
GPR98	84059	genome.wustl.edu	37	5	90281288	90281288	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr5:90281288G>T	ENST00000405460.2	+	85	18197	c.18101G>T	c.(18100-18102)gGa>gTa	p.G6034V	GPR98_ENST00000425867.2_Missense_Mutation_p.G1695V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	6034					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATTTTGAAAGGAATCTATCAT	0.433																																																	0													210.0	195.0	200.0					5																	90281288		1935	4147	6082	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.18101G>T	5.37:g.90281288G>T	ENSP00000384582:p.Gly6034Val		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.G6034V	ENST00000405460.2	37	c.18101	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	11.35	1.613704	0.28712	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.41758	0.99;0.99	5.83	3.06	0.35304	GPCR, family 2-like (1);	0.277663	0.40640	N	0.001053	T	0.45256	0.1333	L	0.34521	1.04	0.80722	D	1	D;D;P	0.52996	0.957;0.957;0.947	P;P;P	0.58721	0.844;0.767;0.758	T	0.15009	-1.0452	9	.	.	.	.	11.3083	0.49349	0.0645:0.239:0.6965:0.0	.	1695;6034;1695	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	V	6034;6034;1695	ENSP00000384582:G6034V;ENSP00000392618:G1695V	.	G	+	2	0	GPR98	90317044	1.000000	0.71417	0.267000	0.24556	0.005000	0.04900	5.066000	0.64351	0.365000	0.24400	-0.182000	0.12963	GGA	GPR98	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like	ENSG00000164199		0.433	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2		0.00	62	0	G	NM_032119		90281288	+1			no_errors	ENST00000405460	ensembl	human	known	74_37	missense	6.25	30	2	SNP	0.997	T
HCAR3	8843	genome.wustl.edu	37	12	123201265	123201265	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:123201265T>C	ENST00000528880.2	-	1	174	c.20A>G	c.(19-21)cAg>cGg	p.Q7R	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	7					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	AAAGTGATCCTGCAGATGGTG	0.517																																																	0													82.0	73.0	76.0					12																	123201265		2203	4300	6503	SO:0001583	missense	0			D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.20A>G	12.37:g.123201265T>C	ENSP00000436714:p.Gln7Arg		A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.Q7R	ENST00000528880.2	37	c.20	CCDS53842.1	12	.	.	.	.	.	.	.	.	.	.	T	2.296	-0.361282	0.05103	.	.	ENSG00000255398	ENST00000528880	T	0.62105	0.05	2.45	-4.89	0.03103	.	.	.	.	.	T	0.38134	0.1029	L	0.36672	1.1	0.09310	N	1	B	0.25105	0.118	B	0.16289	0.015	T	0.27706	-1.0066	9	0.12430	T	0.62	.	2.4865	0.04600	0.3707:0.2801:0.0:0.3493	.	7	E9PI97	.	R	7	ENSP00000436714:Q7R	ENSP00000436714:Q7R	Q	-	2	0	HCAR3	121767218	0.019000	0.18553	0.001000	0.08648	0.029000	0.11900	-0.002000	0.12924	-1.151000	0.02836	-1.194000	0.01681	CAG	HCAR3	-	NULL	ENSG00000255398		0.517	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCAR3	HGNC	protein_coding	OTTHUMT00000387549.2	-	0.00	76	0	T	NM_006018		123201265	-1	tier1	-	no_errors	ENST00000528880	ensembl	human	known	74_37	missense	24.24	25	8	SNP	0.000	C
HELZ2	85441	genome.wustl.edu	37	20	62191586	62191586	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr20:62191586C>T	ENST00000467148.1	-	17	7664	c.7595G>A	c.(7594-7596)aGc>aAc	p.S2532N	HELZ2_ENST00000427522.2_Missense_Mutation_p.S1963N	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2532	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										AAGGGCCTTGCTGATCTCAGA	0.687																																																	0													37.0	27.0	31.0					20																	62191586		2179	4285	6464	SO:0001583	missense	0			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7595G>A	20.37:g.62191586C>T	ENSP00000417401:p.Ser2532Asn		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	superfamily_P-loop_NTPase	p.S2532N	ENST00000467148.1	37	c.7595	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	C	0.286	-0.982923	0.02180	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.92545	-3.06;-3.06	3.94	-0.32	0.12721	.	0.414271	0.26173	N	0.025914	T	0.80491	0.4633	N	0.15975	0.35	0.24240	N	0.995366	B;B	0.11235	0.004;0.003	B;B	0.15052	0.012;0.003	T	0.66775	-0.5838	10	0.27785	T	0.31	-8.201	6.6484	0.22949	0.0:0.3982:0.0:0.6018	.	2532;1963	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	N	1963;2532	ENSP00000393257:S1963N;ENSP00000417401:S2532N	ENSP00000393257:S1963N	S	-	2	0	RP4-697K14.7	61662030	0.128000	0.22383	0.032000	0.17829	0.195000	0.23768	-0.608000	0.05641	0.187000	0.20147	0.491000	0.48974	AGC	HELZ2	-	superfamily_P-loop_NTPase	ENSG00000130589		0.687	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	-	0.00	70	0	C	NM_001037335		62191586	-1	tier1	-	no_errors	ENST00000467148	ensembl	human	known	74_37	missense	12.12	29	4	SNP	0.864	T
HIRIP3	8479	genome.wustl.edu	37	16	30005705	30005705	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr16:30005705T>C	ENST00000279392.3	-	4	1591	c.761A>G	c.(760-762)aAg>aGg	p.K254R	INO80E_ENST00000563197.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000304516.7_5'Flank|INO80E_ENST00000567254.1_5'Flank|HIRIP3_ENST00000566471.1_5'Flank|HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	254					chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)		p.K254R(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CCAAtcccccttttcctcatc	0.517																																																	1	Substitution - Missense(1)	endometrium(1)											179.0	153.0	162.0					16																	30005705		2197	4300	6497	SO:0001583	missense	0			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.761A>G	16.37:g.30005705T>C	ENSP00000279392:p.Lys254Arg		H3BSR3|O75707|O75708	Missense_Mutation	SNP	pfam_Histone_chaperone_domain_CHZ	p.K254R	ENST00000279392.3	37	c.761	CCDS10664.1	16	.	.	.	.	.	.	.	.	.	.	T	6.056	0.378710	0.11466	.	.	ENSG00000149929	ENST00000279392	T	0.32515	1.45	2.21	-1.04	0.10068	.	0.560809	0.14782	N	0.298705	T	0.10078	0.0247	N	0.08118	0	0.09310	N	1	B	0.18461	0.028	B	0.08055	0.003	T	0.29336	-1.0015	10	0.09843	T	0.71	-0.8097	2.7668	0.05322	0.2182:0.1522:0.0:0.6296	.	254	Q9BW71	HIRP3_HUMAN	R	254	ENSP00000279392:K254R	ENSP00000279392:K254R	K	-	2	0	HIRIP3	29913206	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.327000	0.07955	-0.202000	0.10268	-0.456000	0.05471	AAG	HIRIP3	-	NULL	ENSG00000149929		0.517	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRIP3	HGNC	protein_coding	OTTHUMT00000255160.2		0.00	98	0	T	NM_003609		30005705	-1			no_errors	ENST00000279392	ensembl	human	known	74_37	missense	5.00	38	2	SNP	0.000	C
HIST1H4H	8365	genome.wustl.edu	37	6	26285573	26285573	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr6:26285573T>C	ENST00000377727.1	-	1	164	c.155A>G	c.(154-156)tAt>tGt	p.Y52C	HIST1H4H_ENST00000289352.1_Missense_Mutation_p.Y52C	NM_003543.3	NP_003534.1	P62805	H4_HUMAN	histone cluster 1, H4h	52					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			lung(2)|ovary(2)|upper_aerodigestive_tract(3)	7						AGTCTCCTCATAGATAAGGCC	0.542										HNSCC(76;0.23)																																							0													154.0	132.0	139.0					6																	26285573		2203	4300	6503	SO:0001583	missense	0			X60487	CCDS4604.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158406	ENSG00000158406		"""Histones / Replication-dependent"""	4788	protein-coding gene	gene with protein product		602828	"""H4 histone family, member H"", ""histone 1, H4h"""	H4FH		9119399, 12408966	Standard	NM_003543		Approved	H4/h	uc003nhm.2	P62805	OTTHUMG00000014454	ENST00000377727.1:c.155A>G	6.37:g.26285573T>C	ENSP00000366956:p.Tyr52Cys		A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.Y52C	ENST00000377727.1	37	c.155	CCDS4604.1	6	.	.	.	.	.	.	.	.	.	.	.	15.74	2.923423	0.52653	.	.	ENSG00000158406	ENST00000289352;ENST00000377727	T;T	0.68624	-0.34;-0.34	4.4	4.4	0.53042	.	0.000000	0.48767	U	0.000164	T	0.68531	0.3011	.	.	.	0.43394	D	0.995519	.	.	.	.	.	.	T	0.74318	-0.3704	7	0.87932	D	0	.	11.8938	0.52646	0.0:0.0:0.0:1.0	.	.	.	.	C	52	ENSP00000289352:Y52C;ENSP00000366956:Y52C	ENSP00000289352:Y52C	Y	-	2	0	HIST1H4H	26393552	1.000000	0.71417	0.976000	0.42696	0.026000	0.11368	7.920000	0.87521	1.770000	0.52166	0.402000	0.26972	TAT	HIST1H4H	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	ENSG00000158406		0.542	HIST1H4H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4H	HGNC	protein_coding	OTTHUMT00000040119.1	-	0.00	62	0	T	NM_003543		26285573	-1	tier1	-	no_errors	ENST00000289352	ensembl	human	known	74_37	missense	34.62	34	18	SNP	1.000	C
HIST2H3D	653604	genome.wustl.edu	37	1	149785084	149785084	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:149785084C>G	ENST00000331491.1	-	1	152	c.153G>C	c.(151-153)gaG>gaC	p.E51D	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	51					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						AGCGCCGGATCTCCCGCAGAG	0.682																																																	0													20.0	23.0	22.0					1																	149785084		1561	3573	5134	SO:0001583	missense	0			AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.153G>C	1.37:g.149785084C>G	ENSP00000333277:p.Glu51Asp		A2BDF6|A6NFS4|Q6B053	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E51D	ENST00000331491.1	37	c.153	CCDS41388.1	1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625116	0.46840	.	.	ENSG00000183598	ENST00000331491	T	0.57273	0.41	4.1	3.18	0.36537	.	0.000000	0.53938	U	0.000046	T	0.52354	0.1729	.	.	.	0.48395	D	0.999646	.	.	.	.	.	.	T	0.59408	-0.7460	7	0.87932	D	0	.	10.8809	0.46937	0.0:0.905:0.0:0.095	.	.	.	.	D	51	ENSP00000333277:E51D	ENSP00000333277:E51D	E	-	3	2	HIST2H3D	148051708	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.016000	0.40971	1.080000	0.41073	0.436000	0.28706	GAG	HIST2H3D	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000183598		0.682	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST2H3D	HGNC	protein_coding	OTTHUMT00000033452.1	-	0.00	106	0	C	NM_001123375		149785084	-1	tier1	-	no_errors	ENST00000331491	ensembl	human	known	74_37	missense	17.54	47	10	SNP	1.000	G
HMCN2	256158	genome.wustl.edu	37	9	133284204	133284204	+	3'UTR	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr9:133284204G>A	ENST00000487727.2	+	0	3793				HMCN2_ENST00000428715.1_5'Flank			Q8NDA2	HMCN2_HUMAN	hemicentin 2						response to stimulus (GO:0050896)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)										GCTAGACTGTGTGGTGCGTGG	0.597																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK074396		9q34.11	2013-01-29			ENSG00000148357	ENSG00000148357		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21293	protein-coding gene	gene with protein product							Standard	XM_006710218		Approved	DKFZp434P0216, FLJ23816		Q8NDA2	OTTHUMG00000140096	ENST00000487727.2:c.*3790G>A	9.37:g.133284204G>A			Q8N225|Q8TCI8	RNA	SNP	-	NULL	ENST00000487727.2	37	NULL		9																																																																																			HMCN2	-	-	ENSG00000148357		0.597	HMCN2-006	KNOWN	mRNA_start_NF|basic	processed_transcript	HMCN2	HGNC	protein_coding	OTTHUMT00000054659.3	-	0.00	62	0	G	XM_175125		133284204	+1	tier1	-	no_errors	ENST00000487727	ensembl	human	known	74_37	rna	41.67	14	10	SNP	0.998	A
HOXC10	3226	genome.wustl.edu	37	12	54383342	54383343	+	3'UTR	INS	-	-	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:54383342_54383343insA	ENST00000303460.4	+	0	1215_1216				MIR196A2_ENST00000385189.1_RNA|HOXC10_ENST00000511575.1_3'UTR|RP11-834C11.12_ENST00000513209.1_Intron	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10						anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						AATGCGACTGCAAAAAAGGCAA	0.525											OREG0021882	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001624	3_prime_UTR_variant	0				CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.*113->A	12.37:g.54383348_54383348dupA		999	O15219|O15220|Q9BVD5	RNA	INS	-	NULL	ENST00000303460.4	37	NULL	CCDS8868.1	12																																																																																			HOXC10	-	-	ENSG00000180818		0.525	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC10	HGNC	protein_coding	OTTHUMT00000358952.2		0.00	41	0	-			54383343	+1	tier1		no_errors	ENST00000511575	ensembl	human	known	74_37	rna	7.41	25	2	INS	1.000:1.000	A
HSPA6	3310	genome.wustl.edu	37	1	161495860	161495860	+	Missense_Mutation	SNP	G	G	A	rs41299256	byFrequency	TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:161495860G>A	ENST00000309758.4	+	1	1825	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	471			R -> H (in dbSNP:rs41299256). {ECO:0000269|Ref.2}.		ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CCTGCCCCACGTGGAGTCCCC	0.552													G|||	7	0.00139776	0.0008	0.0014	5008	,	,		20013	0.0		0.0	False		,,,				2504	0.0051																0								G	HIS/ARG	0,4406		0,0,2203	74.0	72.0	73.0		1412	1.4	1.0	1	dbSNP_127	73	1,8599		0,1,4299	no	missense	HSPA6	NM_002155.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	471/644	161495860	1,13005	2203	4300	6503	SO:0001583	missense	0				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1412G>A	1.37:g.161495860G>A	ENSP00000310219:p.Arg471His		Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R471H	ENST00000309758.4	37	c.1412	CCDS1231.1	1	.	.	.	.	.	.	.	.	.	.	.	17.25	3.341972	0.61073	0.0	1.16E-4	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01139	5.28	3.3	1.37	0.22104	.	0.184742	0.26166	N	0.025948	T	0.04634	0.0126	H	0.98155	4.16	0.37414	D	0.913372	D	0.76494	0.999	D	0.63597	0.916	T	0.01178	-1.1427	10	0.87932	D	0	.	6.6759	0.23093	0.2488:0.0:0.7512:0.0	rs41299256;rs59667356	471	P17066	HSP76_HUMAN	H	471;447	ENSP00000310219:R471H	ENSP00000310219:R471H	R	+	2	0	HSPA6	159762484	0.968000	0.33430	0.978000	0.43139	0.990000	0.78478	5.523000	0.67099	0.115000	0.18071	0.591000	0.81541	CGT	HSPA6	-	pfam_Hsp_70_fam	ENSG00000173110		0.552	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA6	HGNC	protein_coding	OTTHUMT00000083308.1	-	0.00	57	0	G	NM_002155		161495860	+1	tier1	rs41299256	no_errors	ENST00000309758	ensembl	human	known	74_37	missense	17.14	29	6	SNP	0.989	A
IL5RA	3568	genome.wustl.edu	37	3	3139885	3139885	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:3139885G>A	ENST00000446632.2	-	6	1031	c.457C>T	c.(457-459)Ctt>Ttt	p.L153F	IL5RA_ENST00000445864.2_Intron|IL5RA_ENST00000383846.1_Missense_Mutation_p.L153F|IL5RA_ENST00000418488.2_Missense_Mutation_p.L153F|IL5RA_ENST00000456302.1_Missense_Mutation_p.L153F|IL5RA_ENST00000430514.2_Missense_Mutation_p.L153F|IL5RA_ENST00000438560.1_Missense_Mutation_p.L153F|IL5RA_ENST00000311981.8_Missense_Mutation_p.L153F|IL5RA_ENST00000256452.3_Missense_Mutation_p.L153F	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	153					cell proliferation (GO:0008283)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-5-mediated signaling pathway (GO:0038043)|regulation of interleukin-5 production (GO:0032674)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-5 receptor activity (GO:0004914)	p.L153F(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		GTGCAGTGAAGGGAAACTTGG	0.423																																					GBM(169;430 2801 24955 28528)												1	Substitution - Missense(1)	cervix(1)											212.0	219.0	216.0					3																	3139885		2203	4300	6503	SO:0001583	missense	0			M96652	CCDS2559.1, CCDS2560.1, CCDS46739.1, CCDS58813.1	3p26-p24	2008-01-11			ENSG00000091181	ENSG00000091181		"""Interleukins and interleukin receptors"", ""CD molecules"""	6017	protein-coding gene	gene with protein product		147851		IL5R		1732409	Standard	NM_175727		Approved	CDw125, CD125	uc010hbs.3	Q01344	OTTHUMG00000090245	ENST00000446632.2:c.457C>T	3.37:g.3139885G>A	ENSP00000412209:p.Leu153Phe		B3IU77|B4E2G0|Q14633|Q15469|Q6ISX9	Missense_Mutation	SNP	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	p.L153F	ENST00000446632.2	37	c.457	CCDS2559.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.377834	0.95945	.	.	ENSG00000091181	ENST00000446632;ENST00000438560;ENST00000256452;ENST00000418488;ENST00000383846;ENST00000311981;ENST00000430514;ENST00000456302;ENST00000445701	T;T;T;T;T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05;-0.05	5.72	5.72	0.89469	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Short hematopoietin receptor, family 2, conserved site (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000015	T	0.81725	0.4883	M	0.88105	2.93	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	0.80674	-0.1277	10	0.28530	T	0.3	-27.8828	16.6161	0.84916	0.0:0.0:1.0:0.0	.	153;153;153;153;153	B4E2G0;Q01344-3;Q01344-2;Q01344;E7ERY4	.;.;.;IL5RA_HUMAN;.	F	153	ENSP00000412209:L153F;ENSP00000390753:L153F;ENSP00000256452:L153F;ENSP00000388858:L153F;ENSP00000373358:L153F;ENSP00000309196:L153F;ENSP00000400400:L153F;ENSP00000392059:L153F;ENSP00000398117:L153F	ENSP00000256452:L153F	L	-	1	0	IL5RA	3114885	1.000000	0.71417	0.692000	0.30179	0.782000	0.44232	3.424000	0.52764	2.691000	0.91804	0.655000	0.94253	CTT	IL5RA	-	pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3	ENSG00000091181		0.423	IL5RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL5RA	HGNC	protein_coding	OTTHUMT00000337537.2		0.00	84	0	G			3139885	-1			no_errors	ENST00000256452	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.985	A
HYAL2	8692	genome.wustl.edu	37	3	50357844	50357844	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:50357844G>A	ENST00000447092.1	-	1	2369	c.77C>T	c.(76-78)aCa>aTa	p.T26I	HYAL2_ENST00000395139.3_Missense_Mutation_p.T26I|HYAL2_ENST00000442581.1_Missense_Mutation_p.T26I|TUSC2_ENST00000462137.1_5'UTR|HYAL2_ENST00000357750.4_Missense_Mutation_p.T26I			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	26					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGTGGTGCTGTGGGCTTGAG	0.662																																																	0													40.0	33.0	35.0					3																	50357844		2201	4300	6501	SO:0001583	missense	0			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.77C>T	3.37:g.50357844G>A	ENSP00000401853:p.Thr26Ile		B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.T26I	ENST00000447092.1	37	c.77	CCDS2818.1	3	.	.	.	.	.	.	.	.	.	.	G	35	5.455120	0.96223	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581;ENST00000458018;ENST00000424190;ENST00000426286;ENST00000428028;ENST00000415028	T;T;T;T;T;T;T;T;T	0.58797	2.49;2.49;2.49;2.49;1.89;1.47;1.42;1.38;0.31	5.64	5.64	0.86602	.	0.095414	0.64402	D	0.000001	T	0.75997	0.3926	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;0.992	D;D	0.75020	0.985;0.945	T	0.76870	-0.2799	10	0.66056	D	0.02	-16.1288	18.6399	0.91392	0.0:0.0:1.0:0.0	.	26;26	B3KRZ2;Q12891	.;HYAL2_HUMAN	I	26	ENSP00000401853:T26I;ENSP00000350387:T26I;ENSP00000378571:T26I;ENSP00000406657:T26I;ENSP00000399677:T26I;ENSP00000398714:T26I;ENSP00000409642:T26I;ENSP00000414656:T26I;ENSP00000405855:T26I	ENSP00000350387:T26I	T	-	2	0	HYAL2	50332848	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	9.704000	0.98716	2.822000	0.97130	0.557000	0.71058	ACA	HYAL2	-	pfam_Hyaluronidase,pirsf_Hyaluronidase	ENSG00000068001		0.662	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL2	HGNC	protein_coding	OTTHUMT00000346391.1	-	0.00	24	0	G	NM_003773		50357844	-1	tier1	-	no_errors	ENST00000357750	ensembl	human	known	74_37	missense	64.29	5	9	SNP	1.000	A
INO80D	54891	genome.wustl.edu	37	2	206874404	206874404	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:206874404G>A	ENST00000403263.1	-	9	2061	c.1657C>T	c.(1657-1659)Cgt>Tgt	p.R553C	Vault_ENST00000516676.1_RNA	NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	553					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CGAGGTCCACGCCTTCTCTTC	0.542																																																	0													112.0	118.0	116.0					2																	206874404		1943	4146	6089	SO:0001583	missense	0				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.1657C>T	2.37:g.206874404G>A	ENSP00000384198:p.Arg553Cys		B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Missense_Mutation	SNP	NULL	p.R553C	ENST00000403263.1	37	c.1657	CCDS46500.1	2	.	.	.	.	.	.	.	.	.	.	G	28.6	4.934978	0.92458	.	.	ENSG00000114933	ENST00000403263;ENST00000233270	T	0.39997	1.05	5.8	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.57080	0.2029	L	0.47716	1.5	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.58183	-0.7681	10	0.87932	D	0	.	14.0375	0.64654	0.0:0.0:0.8494:0.1506	.	553	Q53TQ3-2	.	C	553	ENSP00000384198:R553C	ENSP00000233270:R553C	R	-	1	0	INO80D	206582649	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.811000	0.55620	2.750000	0.94351	0.655000	0.94253	CGT	INO80D	-	NULL	ENSG00000114933		0.542	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80D	HGNC	protein_coding	OTTHUMT00000336459.1		0.00	90	0	G	NM_017759		206874404	-1			no_errors	ENST00000403263	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	A
ISYNA1	51477	genome.wustl.edu	37	19	18546480	18546480	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:18546480T>A	ENST00000338128.8	-	9	1364	c.1147A>T	c.(1147-1149)Atc>Ttc	p.I383F	ISYNA1_ENST00000317018.6_Missense_Mutation_p.I181F|ISYNA1_ENST00000457269.4_Missense_Mutation_p.I329F|ISYNA1_ENST00000578963.1_Missense_Mutation_p.I255F|ISYNA1_ENST00000545187.1_Missense_Mutation_p.I233F	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	383					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						ACATACTTGATGACCACCTGG	0.667																																																	0													57.0	44.0	48.0					19																	18546480		2201	4300	6501	SO:0001583	missense	0				CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.1147A>T	19.37:g.18546480T>A	ENSP00000337746:p.Ile383Phe		B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase	p.I383F	ENST00000338128.8	37	c.1147	CCDS12379.1	19	.	.	.	.	.	.	.	.	.	.	T	23.2	4.390618	0.82902	.	.	ENSG00000105655	ENST00000338128;ENST00000457269;ENST00000545187;ENST00000317018	.	.	.	4.27	3.22	0.36961	Myo-inositol-1-phosphate synthase, GAPDH-like (1);	0.000000	0.85682	D	0.000000	D	0.85362	0.5679	H	0.96943	3.91	0.52501	D	0.999956	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.998;0.999;0.999	D	0.87173	0.2222	9	0.87932	D	0	-40.2223	8.4026	0.32594	0.0:0.104:0.0:0.896	.	181;329;383;233	B7Z3K3;G5E9U0;Q9NPH2;G3V1R9	.;.;INO1_HUMAN;.	F	383;329;233;181	.	ENSP00000315147:I181F	I	-	1	0	ISYNA1	18407480	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.385000	0.66231	1.708000	0.51301	0.459000	0.35465	ATC	ISYNA1	-	pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase	ENSG00000105655		0.667	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ISYNA1	HGNC	protein_coding	OTTHUMT00000444469.2	-	0.00	33	0	T	NM_016368		18546480	-1	tier1	-	no_errors	ENST00000338128	ensembl	human	known	74_37	missense	30.77	9	4	SNP	1.000	A
ITGA10	8515	genome.wustl.edu	37	1	145532437	145532437	+	Intron	DEL	T	T	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:145532437delT	ENST00000369304.3	+	9	1084				ITGA10_ENST00000539363.1_Intron|ITGA10_ENST00000538811.1_Intron|ITGA10_ENST00000481236.1_3'UTR	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCCTCATTCCTTGATCTTATG	0.473																																																	0													97.0	91.0	93.0					1																	145532437		2203	4300	6503	SO:0001627	intron_variant	0			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.910-20T>-	1.37:g.145532437delT			B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	RNA	DEL	-	NULL	ENST00000369304.3	37	NULL	CCDS918.1	1																																																																																			ITGA10	-	-	ENSG00000143127		0.473	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA10	HGNC	protein_coding	OTTHUMT00000038537.2		0.00	26	0	T	NM_003637		145532437	+1	tier1		no_errors	ENST00000481236	ensembl	human	known	74_37	rna	25.00	6	2	DEL	0.000	-
ITPR3	3710	genome.wustl.edu	37	6	33659405	33659405	+	Silent	SNP	G	G	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr6:33659405G>C	ENST00000374316.5	+	54	8299	c.7239G>C	c.(7237-7239)ggG>ggC	p.G2413G	ITPR3_ENST00000605930.1_Silent_p.G2413G			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2413					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	GCCCCCTGGGGATGCCACATG	0.602																																																	0													75.0	63.0	67.0					6																	33659405		2203	4300	6503	SO:0001819	synonymous_variant	0			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.7239G>C	6.37:g.33659405G>C			Q14649|Q5TAQ2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.G2413	ENST00000374316.5	37	c.7239	CCDS4783.1	6																																																																																			ITPR3	-	pfam_Ion_trans_dom	ENSG00000096433		0.602	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR3	HGNC	protein_coding	OTTHUMT00000040204.2		0.00	34	0	G	NM_002224		33659405	+1			no_errors	ENST00000374316	ensembl	human	known	74_37	silent	13.64	19	3	SNP	1.000	C
ITSN1	6453	genome.wustl.edu	37	21	35209308	35209309	+	Intron	INS	-	-	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr21:35209308_35209309insC	ENST00000381318.3	+	29	3949				ITSN1_ENST00000399352.1_3'UTR|ITSN1_ENST00000399326.3_Intron|ITSN1_ENST00000437442.2_Intron|ITSN1_ENST00000381285.4_Intron|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399353.1_3'UTR|ITSN1_ENST00000381291.4_3'UTR|ITSN1_ENST00000379960.5_3'UTR|ITSN1_ENST00000399355.2_3'UTR|ITSN1_ENST00000399367.3_Intron|ITSN1_ENST00000399349.1_3'UTR	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)						apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATGTTGTCCATCCCCCCCTCAG	0.436																																																	0									,	1,4263		0,1,2131					,	2.9	1.0			177	2,8252		0,2,4125	no	intron,utr-3	ITSN1	NM_003024.2,NM_001001132.1	,	0,3,6256	A1A1,A1R,RR		0.0242,0.0235,0.024	,	,		3,12515				SO:0001627	intron_variant	0			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3661+372->C	21.37:g.35209315_35209315dupC			A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	RNA	INS	-	NULL	ENST00000381318.3	37	NULL	CCDS33545.1	21																																																																																			ITSN1	-	-	ENSG00000205726		0.436	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4		0.00	55	0	-	NM_003024		35209309	+1	tier1		no_errors	ENST00000472548	ensembl	human	known	74_37	rna	5.13	37	2	INS	1.000:1.000	C
KCNB2	9312	genome.wustl.edu	37	8	73849090	73849090	+	Silent	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr8:73849090G>A	ENST00000523207.1	+	3	2088	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	500					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.S500S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGGCTCTGTCGGAAACAAGCT	0.557																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											107.0	115.0	112.0					8																	73849090		2203	4300	6503	SO:0001819	synonymous_variant	0			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.1500G>A	8.37:g.73849090G>A			Q7Z7D0|Q9BXD3	Silent	SNP	pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8	p.S500	ENST00000523207.1	37	c.1500	CCDS6209.1	8																																																																																			KCNB2	-	pfam_K_chnl_volt-dep_Kv2	ENSG00000182674		0.557	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNB2	HGNC	protein_coding	OTTHUMT00000378998.1		0.00	43	0	G	NM_004770		73849090	+1			no_errors	ENST00000523207	ensembl	human	known	74_37	silent	5.26	36	2	SNP	0.236	A
KDM4B	23030	genome.wustl.edu	37	19	5119803	5119805	+	In_Frame_Del	DEL	GAG	GAG	-	rs147027017		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:5119803_5119805delGAG	ENST00000159111.4	+	11	1473_1475	c.1255_1257delGAG	c.(1255-1257)gagdel	p.E424del	KDM4B_ENST00000536461.1_In_Frame_Del_p.E458del	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	424					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GGTTGACCCCGAGGAGGAGGAGG	0.709																																																	0										64,3356		3,58,1649						-8.8	0.3		dbSNP_134	10	119,6617		9,101,3258	no	coding	KDM4B	NM_015015.2		12,159,4907	A1A1,A1R,RR		1.7666,1.8713,1.8019				183,9973				SO:0001651	inframe_deletion	0			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.1255_1257delGAG	19.37:g.5119812_5119814delGAG	ENSP00000159111:p.Glu424del		B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	In_Frame_Del	DEL	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.E422in_frame_del	ENST00000159111.4	37	c.1255_1257	CCDS12138.1	19																																																																																			KDM4B	-	NULL	ENSG00000127663		0.709	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1		0.00	30	0	GAG	NM_015015		5119805	+1	tier1		no_errors	ENST00000159111	ensembl	human	known	74_37	in_frame_del	18.18	9	2	DEL	0.988:1.000:1.000	-
KDR	3791	genome.wustl.edu	37	4	55964887	55964887	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr4:55964887T>C	ENST00000263923.4	-	16	2645	c.2350A>G	c.(2350-2352)Atc>Gtc	p.I784V		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	784					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGTAGGATGATGACAAGAAGT	0.428			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													118.0	119.0	119.0					4																	55964887		2203	4300	6503	SO:0001583	missense	0			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2350A>G	4.37:g.55964887T>C	ENSP00000263923:p.Ile784Val		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR2_rcpt	p.I784V	ENST00000263923.4	37	c.2350	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	T	12.07	1.826777	0.32329	.	.	ENSG00000128052	ENST00000263923	T	0.74632	-0.86	5.97	4.8	0.61643	.	0.166180	0.53938	D	0.000052	T	0.48943	0.1528	N	0.03608	-0.345	0.38948	D	0.958298	B	0.16166	0.016	B	0.11329	0.006	T	0.49808	-0.8900	10	0.15499	T	0.54	.	11.5115	0.50496	0.0:0.0696:0.0:0.9304	.	784	P35968	VGFR2_HUMAN	V	784	ENSP00000263923:I784V	ENSP00000263923:I784V	I	-	1	0	KDR	55659644	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	2.853000	0.48317	2.283000	0.76528	0.533000	0.62120	ATC	KDR	-	NULL	ENSG00000128052		0.428	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	-	0.00	50	0	T			55964887	-1	tier1	-	no_errors	ENST00000263923	ensembl	human	known	74_37	missense	48.57	18	17	SNP	1.000	C
KIF26B	55083	genome.wustl.edu	37	1	245850135	245850135	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:245850135G>A	ENST00000407071.2	+	12	4290	c.3850G>A	c.(3850-3852)Gag>Aag	p.E1284K	KIF26B_ENST00000366518.4_Missense_Mutation_p.E903K	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1284					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGGCTGAGCGAGATGAGCGC	0.612																																																	0													35.0	41.0	39.0					1																	245850135		2134	4226	6360	SO:0001583	missense	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3850G>A	1.37:g.245850135G>A	ENSP00000385545:p.Glu1284Lys		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E1284K	ENST00000407071.2	37	c.3850	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519897	0.85495	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.82167	-1.58;-1.58	5.92	5.92	0.95590	.	.	.	.	.	D	0.85771	0.5774	M	0.79475	2.455	0.58432	D	0.999998	D;D	0.52996	0.957;0.957	B;B	0.43155	0.337;0.41	D	0.87696	0.2557	9	0.72032	D	0.01	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	903;1284	B7WPD9;Q2KJY2	.;KI26B_HUMAN	K	1284;903;900	ENSP00000385545:E1284K;ENSP00000355475:E903K	ENSP00000355475:E903K	E	+	1	0	KIF26B	243916758	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.855000	0.99526	2.813000	0.96785	0.561000	0.74099	GAG	KIF26B	-	NULL	ENSG00000162849		0.612	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	-	0.00	31	0	G	XM_371354		245850135	+1	tier1	-	no_errors	ENST00000407071	ensembl	human	known	74_37	missense	28.57	15	6	SNP	1.000	A
KIF3B	9371	genome.wustl.edu	37	20	30919073	30919073	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr20:30919073C>T	ENST00000375712.3	+	9	2362	c.2195C>T	c.(2194-2196)aCc>aTc	p.T732I	KIF3B_ENST00000418717.2_Missense_Mutation_p.T358I	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	732	Globular.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|determination of left/right symmetry (GO:0007368)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic spindle organization (GO:0007052)|plus-end-directed vesicle transport along microtubule (GO:0072383)|spindle assembly involved in mitosis (GO:0090307)	centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intraciliary transport particle (GO:0030990)|kinesin II complex (GO:0016939)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|plus-end kinesin complex (GO:0005873)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|Rho GTPase binding (GO:0017048)			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCCTCAGGAACCCCTGCATCT	0.507																																																	0													97.0	92.0	94.0					20																	30919073		2203	4300	6503	SO:0001583	missense	0			AB002357	CCDS13200.1	20q11.21	2012-08-01			ENSG00000101350	ENSG00000101350		"""Kinesins"""	6320	protein-coding gene	gene with protein product		603754				9205841	Standard	NM_004798		Approved	KIAA0359, FLA8, KLP-11	uc002wxq.3	O15066	OTTHUMG00000032214	ENST00000375712.3:c.2195C>T	20.37:g.30919073C>T	ENSP00000364864:p.Thr732Ile		B2RMP4|B4DSR5|E1P5M5	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T732I	ENST00000375712.3	37	c.2195	CCDS13200.1	20	.	.	.	.	.	.	.	.	.	.	C	8.580	0.882090	0.17467	.	.	ENSG00000101350	ENST00000375712;ENST00000418717	T;T	0.74421	-0.84;0.5	5.2	3.21	0.36854	.	0.367800	0.31577	N	0.007409	T	0.59445	0.2194	L	0.29908	0.895	0.28504	N	0.913856	B;B	0.22414	0.069;0.041	B;B	0.21917	0.037;0.017	T	0.51466	-0.8702	10	0.33141	T	0.24	.	8.5065	0.33190	0.1574:0.7649:0.0:0.0777	.	358;732	B4DSR5;O15066	.;KIF3B_HUMAN	I	732;358	ENSP00000364864:T732I;ENSP00000406287:T358I	ENSP00000364864:T732I	T	+	2	0	KIF3B	30382734	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.318000	0.43779	0.840000	0.34995	0.655000	0.94253	ACC	KIF3B	-	NULL	ENSG00000101350		0.507	KIF3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3B	HGNC	protein_coding	OTTHUMT00000078619.1	-	0.00	45	0	C	NM_004798		30919073	+1	tier1	-	no_errors	ENST00000375712	ensembl	human	known	74_37	missense	11.11	32	4	SNP	0.998	T
KNTC1	9735	genome.wustl.edu	37	12	123087277	123087277	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:123087277G>T	ENST00000333479.7	+	46	4992	c.4815G>T	c.(4813-4815)tgG>tgT	p.W1605C	KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000537348.1_Missense_Mutation_p.W30C|KNTC1_ENST00000436959.3_5'UTR	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1605					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|protein complex assembly (GO:0006461)|regulation of exit from mitosis (GO:0007096)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		AGAACTTCTGGAAAATTCTCT	0.348																																																	0													104.0	93.0	96.0					12																	123087277		1846	4086	5932	SO:0001583	missense	0				CCDS45002.1	12q24.31	2013-01-17			ENSG00000184445	ENSG00000184445			17255	protein-coding gene	gene with protein product	"""rough deal homolog (Drosophila)"""	607363				11146660, 11590237	Standard	NM_014708		Approved	KIAA0166, ROD	uc001ucv.3	P50748	OTTHUMG00000168861	ENST00000333479.7:c.4815G>T	12.37:g.123087277G>T	ENSP00000328236:p.Trp1605Cys		A7E2C4|B3KSG2	Missense_Mutation	SNP	pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH	p.W1605C	ENST00000333479.7	37	c.4815	CCDS45002.1	12	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811410	0.70797	.	.	ENSG00000184445	ENST00000333479;ENST00000537348	T;T	0.35048	1.33;1.33	5.93	5.93	0.95920	RZZ complex, subunit KNTC1/ROD, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58595	0.2133	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.58752	-0.7581	10	0.87932	D	0	-9.2895	15.8897	0.79286	0.0:0.0:0.8641:0.1359	.	1605	P50748	KNTC1_HUMAN	C	1605;30	ENSP00000328236:W1605C;ENSP00000443622:W30C	ENSP00000328236:W1605C	W	+	3	0	KNTC1	121653230	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.751000	0.74893	2.805000	0.96524	0.655000	0.94253	TGG	KNTC1	-	pfam_RZZ-complex_KNTC1/ROD_C	ENSG00000184445		0.348	KNTC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KNTC1	HGNC	protein_coding	OTTHUMT00000396110.2	-	0.00	72	0	G			123087277	+1	tier1	-	no_errors	ENST00000333479	ensembl	human	known	74_37	missense	9.09	50	5	SNP	1.000	T
LCORL	254251	genome.wustl.edu	37	4	17885614	17885614	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr4:17885614delT	ENST00000382226.5	-	7	1646	c.1538delA	c.(1537-1539)aagfs	p.K513fs	LCORL_ENST00000326877.4_Intron|LCORL_ENST00000382224.1_Frame_Shift_Del_p.K429fs|LCORL_ENST00000539056.1_Intron	NM_001166139.1	NP_001159611.1	Q8N3X6	LCORL_HUMAN	ligand dependent nuclear receptor corepressor-like	513					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)			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						CCTGGGCTGCTTACTGTCTTT	0.398																																																	0													129.0	100.0	109.0					4																	17885614		692	1590	2282	SO:0001589	frameshift_variant	0				CCDS3425.1, CCDS54749.1	4p15.32	2006-06-14			ENSG00000178177	ENSG00000178177			30776	protein-coding gene	gene with protein product		611799				12560079	Standard	NM_153686		Approved	MLR1, FLJ30696	uc021xmr.1	Q8N3X6	OTTHUMG00000128538	ENST00000382226.5:c.1538delA	4.37:g.17885614delT	ENSP00000371661:p.Lys513fs		Q96NK1	Frame_Shift_Del	DEL	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	p.K513fs	ENST00000382226.5	37	c.1538	CCDS54749.1	4																																																																																			LCORL	-	NULL	ENSG00000178177		0.398	LCORL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LCORL	HGNC	protein_coding			0.00	62	0	T	NM_153686		17885614	-1	tier1		no_errors	ENST00000382226	ensembl	human	known	74_37	frame_shift_del	9.52	19	2	DEL	1.000	-
LOC63930	63930	genome.wustl.edu	37	20	61665826	61665826	+	lincRNA	SNP	C	C	T	rs539110796		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr20:61665826C>T	ENST00000607802.1	+	0	91				LINC00029_ENST00000370341.3_lincRNA	NR_033370.1																						TCCAGATAAACGCGCGCCCAC	0.622																																																	0																																												0																															20.37:g.61665826C>T				RNA	SNP	-	NULL	ENST00000607802.1	37	NULL		20																																																																																			LINC00029	-	-	ENSG00000125514		0.622	RP11-305P22.9-001	KNOWN	basic	lincRNA	LINC00029	HGNC	lincRNA	OTTHUMT00000470475.1	-	0.00	20	0	C			61665826	-1	tier1	-	no_errors	ENST00000370341	ensembl	human	known	74_37	rna	36.36	7	4	SNP	0.000	T
LOC101927708	101927708	genome.wustl.edu	37	11	3602402	3602402	+	RNA	DEL	A	A	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:3602402delA	ENST00000527970.1	-	0	39																											GGGGAAGAGGAAGGACCCGGC	0.766																																																	0																																												0																															11.37:g.3602402delA				RNA	DEL	-	NULL	ENST00000527970.1	37	NULL		11																																																																																			RP13-726E6.2	-	-	ENSG00000255367		0.766	RP13-726E6.2-002	KNOWN	basic	processed_transcript	LOC101927708	Clone_based_vega_gene	processed_transcript	OTTHUMT00000392273.1		0.00	30	0	A			3602402	-1	tier1		no_errors	ENST00000527970	ensembl	human	known	74_37	rna	40.00	3	2	DEL	0.632	-
LRRN3	54674	genome.wustl.edu	37	7	110763077	110763077	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr7:110763077A>T	ENST00000422987.3	+	2	1080	c.249A>T	c.(247-249)aaA>aaT	p.K83N	IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.K83N|LRRN3_ENST00000308478.5_Missense_Mutation_p.K83N|IMMP2L_ENST00000331762.3_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	83					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ATATTGCAAAAATTGAATACT	0.358																																																	0													80.0	75.0	77.0					7																	110763077		2203	4300	6503	SO:0001583	missense	0			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.249A>T	7.37:g.110763077A>T	ENSP00000412417:p.Lys83Asn		O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.K83N	ENST00000422987.3	37	c.249	CCDS5754.1	7	.	.	.	.	.	.	.	.	.	.	A	11.57	1.677705	0.29783	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.21932	1.98;1.98;1.98;1.98	6.16	-0.688	0.11317	.	0.492146	0.20200	N	0.097108	T	0.14614	0.0353	L	0.53249	1.67	0.33575	D	0.599123	B	0.02656	0.0	B	0.04013	0.001	T	0.09574	-1.0668	10	0.31617	T	0.26	.	2.7568	0.05295	0.5436:0.2275:0.12:0.109	.	83	Q9H3W5	LRRN3_HUMAN	N	83	ENSP00000312001:K83N;ENSP00000397312:K83N;ENSP00000412417:K83N;ENSP00000407927:K83N	ENSP00000312001:K83N	K	+	3	2	LRRN3	110550313	1.000000	0.71417	0.986000	0.45419	0.995000	0.86356	1.170000	0.31883	-0.323000	0.08602	0.528000	0.53228	AAA	LRRN3	-	NULL	ENSG00000173114		0.358	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRN3	HGNC	protein_coding	OTTHUMT00000338171.2	-	0.00	47	0	A	NM_018334		110763077	+1	tier1	-	no_errors	ENST00000308478	ensembl	human	known	74_37	missense	42.11	11	8	SNP	0.999	T
LTBP2	4053	genome.wustl.edu	37	14	74973428	74973428	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr14:74973428T>C	ENST00000261978.4	-	27	4392	c.4006A>G	c.(4006-4008)Atc>Gtc	p.I1336V	LTBP2_ENST00000556690.1_Missense_Mutation_p.I1292V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1336	Cys-rich.|EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GAGGGAGAGATCTCGAAGCCC	0.617																																																	0													78.0	65.0	69.0					14																	74973428		2203	4300	6503	SO:0001583	missense	0				CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4006A>G	14.37:g.74973428T>C	ENSP00000261978:p.Ile1336Val		Q99907|Q9NS51	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.I1336V	ENST00000261978.4	37	c.4006	CCDS9831.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.09|11.09	1.535785|1.535785	0.27475|0.27475	.|.	.|.	ENSG00000119681|ENSG00000119681	ENST00000556206|ENST00000261978;ENST00000556690	.|D;D	.|0.91464	.|-2.85;-2.85	4.54|4.54	2.15|2.15	0.27550|0.27550	.|EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	.|1.087620	.|0.07229	.|N	.|0.862261	T|T	0.79787|0.79787	0.4506|0.4506	N|N	0.10945|0.10945	0.07|0.07	0.09310|0.09310	N|N	0.999995|0.999995	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.65067|0.65067	-0.6258|-0.6258	5|10	.|0.18710	.|T	.|0.47	.|.	7.4744|7.4744	0.27368|0.27368	0.0:0.246:0.0:0.754|0.0:0.246:0.0:0.754	.|.	.|1336	.|Q14767	.|LTBP2_HUMAN	G|V	227|1336;1292	.|ENSP00000261978:I1336V;ENSP00000451477:I1292V	.|ENSP00000261978:I1336V	D|I	-|-	2|1	0|0	LTBP2|LTBP2	74043181|74043181	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.938000|0.938000	0.57974|0.57974	1.359000|1.359000	0.34113|0.34113	0.806000|0.806000	0.34183|0.34183	0.374000|0.374000	0.22700|0.22700	GAT|ATC	LTBP2	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000119681		0.617	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP2	HGNC	protein_coding	OTTHUMT00000413595.1	-	0.00	47	0	T	NM_000428		74973428	-1	tier1	-	no_errors	ENST00000261978	ensembl	human	known	74_37	missense	23.81	16	5	SNP	0.988	C
MAMDC4	158056	genome.wustl.edu	37	9	139752668	139752668	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr9:139752668G>A	ENST00000317446.2	+	21	2664	c.2614G>A	c.(2614-2616)Gca>Aca	p.A872T	MAMDC4_ENST00000485732.1_Intron|MAMDC4_ENST00000445819.1_Missense_Mutation_p.A951T	NM_206920.2	NP_996803.2			MAM domain containing 4											breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CGCAGGCGTGGCACACTCCTA	0.731																																																	0													30.0	33.0	32.0					9																	139752668		2187	4293	6480	SO:0001583	missense	0			AL834531	CCDS7010.1	9q34.3	2013-10-21			ENSG00000177943	ENSG00000177943			24083	protein-coding gene	gene with protein product	"""apical early endosomal glycoprotein precursor"", ""endotubin"""					7829488	Standard	NM_206920		Approved	AEGP, DKFZp434M1411	uc004cjs.3	Q6UXC1	OTTHUMG00000020951	ENST00000317446.2:c.2614G>A	9.37:g.139752668G>A	ENSP00000319388:p.Ala872Thr			Missense_Mutation	SNP	pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt	p.A951T	ENST00000317446.2	37	c.2851	CCDS7010.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.60|10.60	1.395010|1.395010	0.25205|0.25205	.|.	.|.	ENSG00000177943|ENSG00000177943	ENST00000317446;ENST00000445819|ENST00000413647	T;T|.	0.01963|.	4.53;4.53|.	4.89|4.89	1.92|1.92	0.25849|0.25849	Concanavalin A-like lectin/glucanase (1);MAM domain (3);|.	0.341580|.	0.24328|.	N|.	0.039484|.	T|T	0.36524|0.36524	0.0970|0.0970	L|L	0.39898|0.39898	1.24|1.24	0.09310|0.09310	N|N	1|1	P;B|.	0.35124|.	0.485;0.332|.	B;B|.	0.39339|.	0.297;0.137|.	T|T	0.23976|0.23976	-1.0173|-1.0173	10|5	0.18710|.	T|.	0.47|.	-12.0643|-12.0643	8.6107|8.6107	0.33800|0.33800	0.0815:0.2908:0.6276:0.0|0.0815:0.2908:0.6276:0.0	.|.	951;872|.	Q6UXC1;Q6UXC1-2|.	AEGP_HUMAN;.|.	T|D	872;951|936	ENSP00000319388:A872T;ENSP00000411339:A951T|.	ENSP00000319388:A872T|.	A|G	+|+	1|2	0|0	MAMDC4|MAMDC4	138872489|138872489	0.127000|0.127000	0.22367|0.22367	0.001000|0.001000	0.08648|0.08648	0.006000|0.006000	0.05464|0.05464	0.833000|0.833000	0.27504|0.27504	0.105000|0.105000	0.17753|0.17753	-0.315000|-0.315000	0.08773|0.08773	GCA|GGC	MAMDC4	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom	ENSG00000177943		0.731	MAMDC4-005	KNOWN	basic|CCDS	protein_coding	MAMDC4	HGNC	protein_coding	OTTHUMT00000254642.3		0.00	65	0	G	NM_206920		139752668	+1			no_errors	ENST00000445819	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.049	A
MASP1	5648	genome.wustl.edu	37	3	187009140	187009140	+	Intron	DEL	T	T	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:187009140delT	ENST00000337774.5	-	1	395				MASP1_ENST00000169293.6_Intron|MASP1_ENST00000392470.2_Splice_Site|MASP1_ENST00000392472.2_Intron|MASP1_ENST00000296280.6_Intron|MASP1_ENST00000495249.1_Intron	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)						complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GGCAGCACCCTGTGCAGGCAG	0.532																																																	0																																										SO:0001627	intron_variant	0			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.5+275A>-	3.37:g.187009140delT			A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Splice_Site	DEL	-	e1-2	ENST00000337774.5	37	c.1-2	CCDS33907.1	3																																																																																			MASP1	-	-	ENSG00000127241		0.532	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1		0.00	55	0	T	NM_001879		187009140	-1	tier1		no_errors	ENST00000392470	ensembl	human	putative	74_37	splice_site_del	14.29	12	2	DEL	0.948	-
MCEE	84693	genome.wustl.edu	37	2	71336956	71336956	+	3'UTR	SNP	T	T	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:71336956T>C	ENST00000244217.5	-	0	692				MCEE_ENST00000462609.2_5'UTR	NM_032601.3	NP_115990.3	Q96PE7	MCEE_HUMAN	methylmalonyl CoA epimerase						cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|L-methylmalonyl-CoA metabolic process (GO:0046491)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	metal ion binding (GO:0046872)|methylmalonyl-CoA epimerase activity (GO:0004493)			kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						tatatatgtatatatTTTAAT	0.234																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF364547	CCDS1915.1	2p13.3	2011-05-12			ENSG00000124370	ENSG00000124370	5.1.99.1		16732	protein-coding gene	gene with protein product	"""glyoxalase domain containing 2"""	608419				16697227, 16752391, 16843692	Standard	NM_032601		Approved	GLOD2	uc002shs.2	Q96PE7	OTTHUMG00000129709	ENST00000244217.5:c.*144A>G	2.37:g.71336956T>C			Q53TP1|Q8WW63	RNA	SNP	-	NULL	ENST00000244217.5	37	NULL	CCDS1915.1	2																																																																																			MCEE	-	-	ENSG00000124370		0.234	MCEE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCEE	HGNC	protein_coding	OTTHUMT00000251917.3	-	0.00	71	0	T	NM_032601		71336956	-1	tier1	-	no_errors	ENST00000462609	ensembl	human	known	74_37	rna	27.27	32	12	SNP	0.000	C
MED13L	23389	genome.wustl.edu	37	12	116429734	116429734	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:116429734C>A	ENST00000281928.3	-	17	3231	c.3025G>T	c.(3025-3027)Gat>Tat	p.D1009Y		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1009						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TAGTCTGGATCTGCTAGGCTC	0.532																																																	0													61.0	53.0	56.0					12																	116429734		2203	4300	6503	SO:0001583	missense	0			AB028948	CCDS9177.1	12q24.22	2010-07-29	2007-07-30	2007-07-30	ENSG00000123066	ENSG00000123066			22962	protein-coding gene	gene with protein product		608771	"""thyroid hormone receptor associated protein 2"""	THRAP2			Standard	NM_015335		Approved	KIAA1025, TRAP240L	uc001tvw.3	Q71F56	OTTHUMG00000169404	ENST00000281928.3:c.3025G>T	12.37:g.116429734C>A	ENSP00000281928:p.Asp1009Tyr		A1L469|Q68DN4|Q9H8C0|Q9NSY9|Q9UFD8|Q9UPX5	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.D1009Y	ENST00000281928.3	37	c.3025	CCDS9177.1	12	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910880	0.52439	.	.	ENSG00000123066	ENST00000281928	T	0.75154	-0.91	5.55	4.66	0.58398	.	0.046860	0.85682	D	0.000000	T	0.72740	0.3498	L	0.38175	1.15	0.58432	D	0.999998	P	0.51791	0.948	P	0.49708	0.62	T	0.76553	-0.2917	10	0.72032	D	0.01	.	14.381	0.66911	0.0:0.9297:0.0:0.0703	.	1009	Q71F56	MD13L_HUMAN	Y	1009	ENSP00000281928:D1009Y	ENSP00000281928:D1009Y	D	-	1	0	MED13L	114914117	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.320000	0.79064	1.582000	0.49881	0.585000	0.79938	GAT	MED13L	-	NULL	ENSG00000123066		0.532	MED13L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13L	HGNC	protein_coding	OTTHUMT00000403879.3	-	0.00	37	0	C			116429734	-1	tier1	-	no_errors	ENST00000281928	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	A
MED15	51586	genome.wustl.edu	37	22	20918793	20918795	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr22:20918793_20918795delCAG	ENST00000263205.7	+	6	577_579	c.508_510delCAG	c.(508-510)cagdel	p.Q174del	MED15_ENST00000382974.2_In_Frame_Del_p.Q103del|MED15_ENST00000406969.1_In_Frame_Del_p.Q148del|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000425759.2_In_Frame_Del_p.Q63del|MED15_ENST00000292733.7_In_Frame_Del_p.Q174del|MED15_ENST00000541476.1_In_Frame_Del_p.Q148del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	174	Poly-Gln.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			gcagcagttccagcagcagcagc	0.616											OREG0026319	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0									,	5,56,4109		0,0,5,0,56,2024					,	3.4	1.0			20	7,128,7953		0,0,7,0,128,3909	no	codingComplex,codingComplex	MED15	NM_015889.3,NM_001003891.1	,	0,0,12,0,184,5933	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6691,1.4628,1.599	,	,		12,184,12062				SO:0001651	inframe_deletion	0			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.508_510delCAG	22.37:g.20918802_20918804delCAG	ENSP00000263205:p.Gln174del	744	D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	pfam_Mediator_Med15_met	p.Q173in_frame_del	ENST00000263205.7	37	c.508_510	CCDS33602.1	22																																																																																			MED15	-	pfam_Mediator_Med15_met	ENSG00000099917		0.616	MED15-004	KNOWN	basic|CCDS	protein_coding	MED15	HGNC	protein_coding	OTTHUMT00000320177.2		0.00	59	0	CAG	NM_015889		20918795	+1	tier1		no_errors	ENST00000263205	ensembl	human	known	74_37	in_frame_del	13.04	20	3	DEL	1.000:1.000:0.999	-
MEIS1	4211	genome.wustl.edu	37	2	66739317	66739317	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:66739317C>T	ENST00000272369.9	+	8	1236	c.779C>T	c.(778-780)aCa>aTa	p.T260I	MEIS1_ENST00000560281.2_Missense_Mutation_p.T260I|MEIS1_ENST00000407092.2_Missense_Mutation_p.T260I|MEIS1_ENST00000495021.2_Missense_Mutation_p.T195I|MEIS1_ENST00000444274.2_Intron|MEIS1_ENST00000409517.1_Intron|MEIS1_ENST00000398506.2_Missense_Mutation_p.T258I|MEIS1_ENST00000488550.1_Missense_Mutation_p.T260I	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	260	Asp/Glu-rich (acidic).				angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						TCCCCCAGCACAGGTGACGAT	0.453																																																	0													55.0	58.0	57.0					2																	66739317		2105	4258	6363	SO:0001583	missense	0				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.779C>T	2.37:g.66739317C>T	ENSP00000272369:p.Thr260Ile		A8MV50	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.T260I	ENST00000272369.9	37	c.779	CCDS46309.1	2	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626262	0.87560	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000495021;ENST00000409622;ENST00000402908;ENST00000450027	D;D;D;D;D	0.92149	-2.19;-1.96;-1.96;-2.19;-2.98	5.76	5.76	0.90799	Homeodomain-related (1);	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.73217	2.22	0.80722	D	1	P;D;B;D	0.89917	0.537;1.0;0.402;1.0	B;D;B;D	0.91635	0.32;0.999;0.17;0.999	D	0.94295	0.7532	10	0.38643	T	0.18	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	195;258;260;260	F5GYS8;O00470-2;O00470;F8W8U3	.;.;MEIS1_HUMAN;.	I	260;260;258;195;80;116;72	ENSP00000272369:T260I;ENSP00000384461:T260I;ENSP00000381518:T258I;ENSP00000440571:T195I;ENSP00000395827:T72I	ENSP00000272369:T260I	T	+	2	0	MEIS1	66592821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.776000	0.85560	2.880000	0.98712	0.650000	0.86243	ACA	MEIS1	-	NULL	ENSG00000143995		0.453	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEIS1	HGNC	protein_coding	OTTHUMT00000319725.4		0.00	69	0	C	NM_002398		66739317	+1			no_errors	ENST00000407092	ensembl	human	known	74_37	missense	10.34	26	3	SNP	1.000	T
MGAT5B	146664	genome.wustl.edu	37	17	74928738	74928738	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:74928738G>A	ENST00000569840.2	+	11	1877	c.1303G>A	c.(1303-1305)Gac>Aac	p.D435N	MGAT5B_ENST00000428789.2_Missense_Mutation_p.D446N|MGAT5B_ENST00000301618.4_Missense_Mutation_p.D435N	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	435					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCATACCCCCGACAACTCCTT	0.627																																																	0													98.0	87.0	91.0					17																	74928738		2203	4300	6503	SO:0001583	missense	0			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.1303G>A	17.37:g.74928738G>A	ENSP00000456037:p.Asp435Asn		Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase	p.D446N	ENST00000569840.2	37	c.1336	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	G	22.3	4.275005	0.80580	.	.	ENSG00000167889	ENST00000301618;ENST00000428789	T;T	0.73258	-0.7;-0.73	4.29	4.29	0.51040	.	0.000000	0.85682	D	0.000000	D	0.83271	0.5218	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.85797	0.1371	10	0.72032	D	0.01	-48.8023	13.905	0.63828	0.0:0.0:1.0:0.0	.	446;435	Q3V5L5-2;Q3V5L5-5	.;.	N	435;446	ENSP00000301618:D435N;ENSP00000391227:D446N	ENSP00000301618:D435N	D	+	1	0	MGAT5B	72440333	1.000000	0.71417	0.992000	0.48379	0.559000	0.35586	9.413000	0.97351	1.910000	0.55303	0.462000	0.41574	GAC	MGAT5B	-	NULL	ENSG00000167889		0.627	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	-	0.00	46	0	G	NM_144677		74928738	+1	tier1	-	no_errors	ENST00000428789	ensembl	human	known	74_37	missense	41.38	17	12	SNP	0.999	A
METAP1	23173	genome.wustl.edu	37	4	99918539	99918539	+	Intron	SNP	A	A	G			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr4:99918539A>G	ENST00000296411.6	+	1	248				MIR3684_ENST00000579779.1_RNA|RP11-571L19.7_ENST00000583654.1_RNA	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1						N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		TTACCGAACAATCTAAAGGAC	0.343																																																	0																																										SO:0001627	intron_variant	0			D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.114+1521A>G	4.37:g.99918539A>G			B4E2E6	RNA	SNP	-	NULL	ENST00000296411.6	37	NULL	CCDS47110.1	4																																																																																			MIR3684	-	-	ENSG00000265213		0.343	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3684	HGNC	protein_coding	OTTHUMT00000364237.1	-	0.00	65	0	A	NM_015143		99918539	+1	tier1	-	no_errors	ENST00000579779	ensembl	human	known	74_37	rna	44.44	20	16	SNP	0.154	G
MME	4311	genome.wustl.edu	37	3	154889996	154889996	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:154889996G>T	ENST00000460393.1	+	21	2191	c.2071G>T	c.(2071-2073)Gca>Tca	p.A691S	MME_ENST00000462745.1_Missense_Mutation_p.A691S|MME_ENST00000360490.2_Missense_Mutation_p.A691S|MME_ENST00000492661.1_Missense_Mutation_p.A691S|MME_ENST00000493237.1_Missense_Mutation_p.A691S|MME-AS1_ENST00000484721.1_RNA	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	691					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CTTGAACTTTGCACAGGTATT	0.328																																																	0													92.0	99.0	97.0					3																	154889996		2203	4299	6502	SO:0001583	missense	0				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.2071G>T	3.37:g.154889996G>T	ENSP00000418525:p.Ala691Ser		A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.A691S	ENST00000460393.1	37	c.2071	CCDS3172.1	3	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921885	0.92319	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	D;D;D;D;D	0.92495	-3.05;-3.05;-3.05;-3.05;-3.05	5.43	5.43	0.79202	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.056249	0.64402	D	0.000001	D	0.96969	0.9010	M	0.91090	3.175	0.80722	D	1	D	0.67145	0.996	D	0.71656	0.974	D	0.97620	1.0135	10	0.87932	D	0	-16.9497	19.2626	0.93974	0.0:0.0:1.0:0.0	.	691	P08473	NEP_HUMAN	S	691	ENSP00000420389:A691S;ENSP00000418525:A691S;ENSP00000419653:A691S;ENSP00000417079:A691S;ENSP00000353679:A691S	ENSP00000353679:A691S	A	+	1	0	MME	156372690	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.666000	0.98612	2.544000	0.85801	0.585000	0.79938	GCA	MME	-	pfam_Peptidase_M13_C	ENSG00000196549		0.328	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	HGNC	protein_coding	OTTHUMT00000351076.1	-	0.00	72	0	G	NM_000902		154889996	+1	tier1	-	no_errors	ENST00000360490	ensembl	human	known	74_37	missense	43.75	27	21	SNP	1.000	T
MIR720	0	genome.wustl.edu	37	3	164059164	164059164	+	RNA	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:164059164G>T	ENST00000408828.1	+	0	36																											atctcgctggggcctccaAAA	0.567																																																	0													21.0	22.0	22.0					3																	164059164		1555	3556	5111			0																															3.37:g.164059164G>T				RNA	SNP	-	NULL	ENST00000408828.1	37	NULL		3																																																																																			MIR720	-	-	ENSG00000221755		0.567	MIR720-201	KNOWN	basic	miRNA	MIR720	HGNC	miRNA		-	0.00	123	0	G			164059164	+1	tier1	-	no_errors	ENST00000408828	ensembl	human	known	74_37	rna	23.94	54	17	SNP	0.051	T
MPHOSPH8	54737	genome.wustl.edu	37	13	20207922	20207922	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr13:20207922G>A	ENST00000361479.5	+	1	102	c.34G>A	c.(34-36)Gca>Aca	p.A12T	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.A12T	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	12					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AAGGGTGACCGCAGTCCCTGT	0.622																																																	0													46.0	35.0	39.0					13																	20207922		2201	4299	6500	SO:0001583	missense	0			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.34G>A	13.37:g.20207922G>A	ENSP00000355388:p.Ala12Thr		B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.A12T	ENST00000361479.5	37	c.34	CCDS9287.1	13	.	.	.	.	.	.	.	.	.	.	G	14.30	2.495660	0.44352	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.41758	0.99;1.03	4.76	2.07	0.26955	.	1.511360	0.03820	N	0.267291	T	0.27313	0.0670	N	0.16656	0.425	0.09310	N	1	B;B;B	0.27498	0.016;0.18;0.136	B;B;B	0.15484	0.004;0.013;0.009	T	0.18053	-1.0349	10	0.38643	T	0.18	.	6.3587	0.21417	0.2318:0.133:0.6353:0.0	.	12;12;12	Q99549;Q99549-2;B3KS10	MPP8_HUMAN;.;.	T	12	ENSP00000414663:A12T;ENSP00000355388:A12T	ENSP00000355388:A12T	A	+	1	0	MPHOSPH8	19105922	0.080000	0.21391	0.001000	0.08648	0.020000	0.10135	2.042000	0.41222	0.320000	0.23234	0.561000	0.74099	GCA	MPHOSPH8	-	NULL	ENSG00000196199		0.622	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	HGNC	protein_coding	OTTHUMT00000044028.2	-	0.00	66	0	G	NM_017520		20207922	+1	tier1	-	no_errors	ENST00000414242	ensembl	human	known	74_37	missense	10.53	34	4	SNP	0.001	A
MRGPRX4	117196	genome.wustl.edu	37	11	18195433	18195433	+	Silent	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:18195433G>A	ENST00000314254.3	+	1	1050	c.630G>A	c.(628-630)ccG>ccA	p.P210P	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	210						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GGAAGATGCCGCTGACCAGGC	0.562																																																	0													105.0	97.0	100.0					11																	18195433		2199	4293	6492	SO:0001819	synonymous_variant	0			AY042216	CCDS7831.1	11p15.1	2013-10-10			ENSG00000179817	ENSG00000179817		"""GPCR / Class A : Orphans"""	17617	protein-coding gene	gene with protein product		607230				11551509	Standard	NM_054032		Approved	MRGX4	uc001mnv.1	Q96LA9	OTTHUMG00000166442	ENST00000314254.3:c.630G>A	11.37:g.18195433G>A			Q3KNU3|Q3KNU4|Q502W0|Q8TDD6|Q8TDD7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.P210	ENST00000314254.3	37	c.630	CCDS7831.1	11																																																																																			MRGPRX4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000179817		0.562	MRGPRX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRGPRX4	HGNC	protein_coding	OTTHUMT00000389788.1	-	0.00	84	0	G	NM_054032		18195433	+1	tier1	-	no_errors	ENST00000314254	ensembl	human	known	74_37	silent	5.71	66	4	SNP	0.000	A
MRPS5	64969	genome.wustl.edu	37	2	95753228	95753228	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:95753228delC	ENST00000272418.2	-	12	1375	c.1167delG	c.(1165-1167)gggfs	p.G389fs		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	389					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCCTCAAGGGCCCCCGGGGGG	0.562																																																	0													78.0	72.0	74.0					2																	95753228		2203	4300	6503	SO:0001589	frameshift_variant	0			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.1167delG	2.37:g.95753228delC	ENSP00000272418:p.Gly389fs		Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Frame_Shift_Del	DEL	pfam_Ribosomal_S5_C,pfam_Ribosomal_S5_N,superfamily_Ribosomal_S5_D2-typ_fold,pfscan_Ribosomal_S5_N	p.L391fs	ENST00000272418.2	37	c.1167	CCDS2010.1	2																																																																																			MRPS5	-	NULL	ENSG00000144029		0.562	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS5	HGNC	protein_coding	OTTHUMT00000252772.1		0.00	58	0	C	NM_031902		95753228	-1	tier1		no_errors	ENST00000272418	ensembl	human	known	74_37	frame_shift_del	5.56	34	2	DEL	0.000	-
MT-CO1	4512	genome.wustl.edu	37	M	5814	5814	+	5'Flank	SNP	T	T	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chrM:5814T>C	ENST00000361624.2	+	0	0				MT-CO2_ENST00000361739.1_5'Flank|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TC_ENST00000387405.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CAATATGAAAATCACCTCGGA	0.498																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.5814T>C	Exception_encountered		Q34770	RNA	SNP	-	NULL	ENST00000361624.2	37	NULL		MT																																																																																			MT-TC	-	-	ENSG00000210140		0.498	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-TC	HGNC	protein_coding		-	0.00	170	0	T	YP_003024028		5814	-1	tier1	rs200077222	no_errors	ENST00000387405	ensembl	human	known	74_37	rna	70.39	45	107	SNP	NULL	C
MUC19	283463	genome.wustl.edu	37	12	40917139	40917139	+	3'UTR	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:40917139G>T	ENST00000474954.1	+	0	853				MUC19_ENST00000454784.4_Intron			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						TTAGATTCGGGTCCTCATTTG	0.423																																																	0																																										SO:0001624	3_prime_UTR_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	ENST00000474954.1:c.*850G>T	12.37:g.40917139G>T			Q8NA85	RNA	SNP	-	NULL	ENST00000474954.1	37	NULL		12																																																																																			MUC19	-	-	ENSG00000205592		0.423	MUC19-006	KNOWN	basic	processed_transcript	MUC19	HGNC	protein_coding	OTTHUMT00000134360.1	-	0.00	66	0	G	XM_003403524		40917139	+1	tier1	-	no_errors	ENST00000474954	ensembl	human	known	74_37	rna	25.81	23	8	SNP	0.001	T
NCAPH	23397	genome.wustl.edu	37	2	97008986	97008986	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:97008986delT	ENST00000240423.4	+	5	582	c.539delT	c.(538-540)cttfs	p.L180fs	NCAPH_ENST00000455200.1_Frame_Shift_Del_p.L169fs|NCAPH_ENST00000427946.1_Frame_Shift_Del_p.L44fs	NM_001281710.1|NM_001281711.1|NM_015341.3	NP_001268639.1|NP_001268640.1|NP_056156.2	Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	180					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TACAGAGTCCTTGGGGGGCTG	0.532																																																	0													126.0	104.0	111.0					2																	97008986		2203	4300	6503	SO:0001589	frameshift_variant	0			BC024211	CCDS2021.1, CCDS62960.1	2q11.2	2008-02-05	2006-09-04	2006-09-04	ENSG00000121152	ENSG00000121152			1112	protein-coding gene	gene with protein product		602332	"""barren (Drosophila) homolog"", ""barren homolog (Drosophila)"", ""barren homolog 1 (Drosophila)"""	BRRN1		9417923	Standard	NM_015341		Approved	CAP-H, hCAP-H	uc002svz.1	Q15003	OTTHUMG00000130451	ENST00000240423.4:c.539delT	2.37:g.97008986delT	ENSP00000240423:p.Leu180fs		B4E189|Q8TB87	Frame_Shift_Del	DEL	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	p.L183fs	ENST00000240423.4	37	c.539	CCDS2021.1	2																																																																																			NCAPH	-	pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2	ENSG00000121152		0.532	NCAPH-001	KNOWN	basic|CCDS	protein_coding	NCAPH	HGNC	protein_coding	OTTHUMT00000252842.2		0.00	47	0	T	NM_015341		97008986	+1	tier1		no_errors	ENST00000240423	ensembl	human	known	74_37	frame_shift_del	7.69	24	2	DEL	0.998	-
NOTCH1	4851	genome.wustl.edu	37	9	139413049	139413049	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr9:139413049G>A	ENST00000277541.6	-	6	1168	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	365	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R365C(6)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCACCTGTGCGGCCATGGGGA	0.667			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	6	Substitution - Missense(6)	upper_aerodigestive_tract(4)|lung(2)											22.0	25.0	24.0					9																	139413049		2180	4284	6464	SO:0001583	missense	0			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.1093C>T	9.37:g.139413049G>A	ENSP00000277541:p.Arg365Cys		Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.R365C	ENST00000277541.6	37	c.1093	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487435	0.84854	.	.	ENSG00000148400	ENST00000277541	D	0.82344	-1.6	4.88	4.88	0.63580	EGF-like region, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.87079	0.6088	L	0.38175	1.15	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87734	0.2581	10	0.51188	T	0.08	.	16.5755	0.84635	0.0:0.0:1.0:0.0	.	365	P46531	NOTC1_HUMAN	C	365	ENSP00000277541:R365C	ENSP00000277541:R365C	R	-	1	0	NOTCH1	138532870	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	3.451000	0.52964	2.257000	0.74773	0.561000	0.74099	CGC	NOTCH1	-	smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom	ENSG00000148400		0.667	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	-	0.00	70	0	G	NM_017617		139413049	-1	tier1	-	no_errors	ENST00000277541	ensembl	human	known	74_37	missense	43.48	13	10	SNP	1.000	A
NRD1	4898	genome.wustl.edu	37	1	52302076	52302076	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:52302076C>T	ENST00000354831.7	-	4	988	c.799G>A	c.(799-801)Gcg>Acg	p.A267T	NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000539524.1_Missense_Mutation_p.A135T|NRD1_ENST00000544028.1_Intron|MIR761_ENST00000390787.1_RNA|NRD1_ENST00000352171.7_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TGCTCCTCCGCTTGCCATCCT	0.463																																																	0													36.0	36.0	36.0					1																	52302076		2202	4300	6502	SO:0001583	missense	0			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.799G>A	1.37:g.52302076C>T	ENSP00000346890:p.Ala267Thr		A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16	p.A267T	ENST00000354831.7	37	c.799	CCDS559.1	1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192012	0.38707	.	.	ENSG00000078618	ENST00000354831;ENST00000539524	T;T	0.29655	1.57;1.56	6.08	5.16	0.70880	.	0.706882	0.12930	N	0.427403	T	0.18718	0.0449	N	0.08118	0	0.80722	D	1	B	0.09022	0.002	B	0.12156	0.007	T	0.05209	-1.0899	10	0.34782	T	0.22	0.3237	13.0389	0.58887	0.0:0.8224:0.1776:0.0	.	267	B1AKJ5	.	T	267;135	ENSP00000346890:A267T;ENSP00000444416:A135T	ENSP00000346890:A267T	A	-	1	0	NRD1	52074664	1.000000	0.71417	0.976000	0.42696	0.726000	0.41606	1.126000	0.31344	1.554000	0.49487	0.655000	0.94253	GCG	NRD1	-	superfamily_Metalloenz_LuxS/M16	ENSG00000078618		0.463	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1		0.00	30	0	C	NM_002525		52302076	-1			no_errors	ENST00000354831	ensembl	human	known	74_37	missense	13.64	18	3	SNP	0.988	T
NUCB1	4924	genome.wustl.edu	37	19	49404095	49404097	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	GCT	GCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:49404095_49404097delGCT	ENST00000405315.4	+	2	376_378	c.42_44delGCT	c.(40-45)ccgctg>ccg	p.L21del	NUCB1_ENST00000407032.1_In_Frame_Del_p.L21del|NUCB1_ENST00000263273.5_In_Frame_Del_p.L21del|NUCB1_ENST00000485798.1_Intron|TULP2_ENST00000221399.3_5'Flank	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	21						endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		TTctgttgccgctgctgctgctg	0.65																																																	0																																										SO:0001651	inframe_deletion	0			BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.42_44delGCT	19.37:g.49404104_49404106delGCT	ENSP00000385923:p.Leu21del		B2RD64|Q15838|Q7Z4J7|Q9BUR1	In_Frame_Del	DEL	pfscan_EF_hand_dom	p.L18in_frame_del	ENST00000405315.4	37	c.42_44	CCDS12740.1	19																																																																																			NUCB1	-	NULL	ENSG00000104805		0.650	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUCB1	HGNC	protein_coding	OTTHUMT00000326545.2		0.00	93	0	GCT	NM_006184		49404097	+1	tier1		no_errors	ENST00000263273	ensembl	human	known	74_37	in_frame_del	8.82	31	3	DEL	0.000:0.000:0.000	-
NUP98	4928	genome.wustl.edu	37	11	3733897	3733897	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:3733897G>T	ENST00000324932.7	-	20	3059	c.2639C>A	c.(2638-2640)tCt>tAt	p.S880Y	NUP98_ENST00000397007.4_Missense_Mutation_p.S897Y|NUP98_ENST00000397004.4_Missense_Mutation_p.S880Y|NUP98_ENST00000355260.3_Missense_Mutation_p.S880Y|NUP98_ENST00000359171.4_Missense_Mutation_p.S880Y|RNU6-1143P_ENST00000516125.1_RNA	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	897	Peptidase S59. {ECO:0000255|PROSITE- ProRule:PRU00765}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ACTAGTTTTAGACGGATGCTC	0.463			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																			Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													162.0	151.0	154.0					11																	3733897		2201	4298	6499	SO:0001583	missense	0			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2639C>A	11.37:g.3733897G>T	ENSP00000316032:p.Ser880Tyr		Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	pfam_Nup96,pfam_Peptidase_S59,superfamily_Peptidase_S59	p.S880Y	ENST00000324932.7	37	c.2639	CCDS7746.1	11	.	.	.	.	.	.	.	.	.	.	G	14.18	2.459762	0.43736	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260;ENST00000397004;ENST00000397007	.	.	.	5.48	5.48	0.80851	.	0.376214	0.28214	N	0.016174	T	0.32406	0.0828	L	0.50333	1.59	0.23632	N	0.997246	P;B;P;P	0.48503	0.681;0.415;0.911;0.911	B;B;B;B	0.43123	0.195;0.179;0.409;0.319	T	0.42965	-0.9420	9	0.56958	D	0.05	-3.8629	6.7954	0.23722	0.0914:0.0:0.7311:0.1775	.	897;880;880;880	P52948-3;P52948-4;P52948-2;P52948-5	.;.;.;.	Y	880;880;880;880;897	.	ENSP00000316032:S880Y	S	-	2	0	NUP98	3690473	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.448000	0.44926	2.584000	0.87258	0.563000	0.77884	TCT	NUP98	-	NULL	ENSG00000110713		0.463	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	-	0.00	73	0	G	NM_016320		3733897	-1	tier1	-	no_errors	ENST00000324932	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.949	T
OR2W5	441932	genome.wustl.edu	37	1	247655201	247655201	+	RNA	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:247655201C>T	ENST00000522351.1	+	0	832							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-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)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCATCATCTACGTGTACCTGA	0.532																																																	0													133.0	116.0	122.0					1																	247655201		2203	4300	6503			0					1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655201C>T			B9EH85	RNA	SNP	-	NULL	ENST00000522351.1	37	NULL		1																																																																																			OR2W5	-	-	ENSG00000203664		0.532	OR2W5-002	KNOWN	basic	processed_transcript	OR2W5	HGNC	pseudogene	OTTHUMT00000375789.1	-	0.00	50	0	C	NM_001004698		247655201	+1	tier1	-	no_errors	ENST00000522351	ensembl	human	known	74_37	rna	32.35	23	11	SNP	0.469	T
OR8H3	390152	genome.wustl.edu	37	11	55889986	55889986	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:55889986G>T	ENST00000313472.3	+	1	138	c.138G>T	c.(136-138)atG>atT	p.M46I		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	46						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ATGTGGGGATGCTATTGATAA	0.448																																																	0													301.0	302.0	302.0					11																	55889986		2201	4296	6497	SO:0001583	missense	0			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.138G>T	11.37:g.55889986G>T	ENSP00000323928:p.Met46Ile		Q6IFB7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M46I	ENST00000313472.3	37	c.138	CCDS31519.1	11	.	.	.	.	.	.	.	.	.	.	G	1.982	-0.433823	0.04669	.	.	ENSG00000181761	ENST00000313472	T	0.00330	8.08	3.44	2.42	0.29668	GPCR, rhodopsin-like superfamily (1);	0.091437	0.48767	D	0.000161	T	0.00109	0.0003	N	0.00750	-1.22	0.09310	N	1	B	0.22851	0.076	B	0.27608	0.081	T	0.35599	-0.9782	10	0.48119	T	0.1	.	7.3864	0.26884	0.105:0.2766:0.6184:0.0	.	46	Q8N146	OR8H3_HUMAN	I	46	ENSP00000323928:M46I	ENSP00000323928:M46I	M	+	3	0	OR8H3	55646562	0.048000	0.20356	0.463000	0.27130	0.046000	0.14306	0.027000	0.13621	1.621000	0.50320	0.173000	0.16961	ATG	OR8H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000181761		0.448	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	-	0.00	115	0	G	NM_001005201		55889986	+1	tier1	-	no_errors	ENST00000313472	ensembl	human	known	74_37	missense	23.29	56	17	SNP	0.102	T
OSBP	5007	genome.wustl.edu	37	11	59376070	59376070	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:59376070G>A	ENST00000263847.1	-	3	1188	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	237					lipid transport (GO:0006869)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	oxysterol binding (GO:0008142)			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		CTGAGAGAACGCTGCAGAGCT	0.493																																																	0													144.0	123.0	130.0					11																	59376070		2201	4295	6496	SO:0001583	missense	0			AF185696	CCDS7974.1	11q12-q13	2013-01-10			ENSG00000110048	ENSG00000110048		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8503	protein-coding gene	gene with protein product		167040					Standard	NM_002556		Approved	OSBP1	uc001noc.1	P22059	OTTHUMG00000167422	ENST00000263847.1:c.709C>T	11.37:g.59376070G>A	ENSP00000263847:p.Arg237Cys		Q6P524	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R237C	ENST00000263847.1	37	c.709	CCDS7974.1	11	.	.	.	.	.	.	.	.	.	.	G	25.1	4.604958	0.87157	.	.	ENSG00000110048	ENST00000263847	D	0.92495	-3.05	5.89	4.95	0.65309	.	0.000000	0.85682	D	0.000000	D	0.96626	0.8899	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.97047	0.9761	10	0.87932	D	0	-16.8506	16.1341	0.81471	0.0:0.0:0.8659:0.1341	.	237	P22059	OSBP1_HUMAN	C	237	ENSP00000263847:R237C	ENSP00000263847:R237C	R	-	1	0	OSBP	59132646	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	2.212000	0.42835	2.789000	0.95967	0.655000	0.94253	CGT	OSBP	-	NULL	ENSG00000110048		0.493	OSBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBP	HGNC	protein_coding	OTTHUMT00000394555.1	-	0.00	43	0	G			59376070	-1	tier1	-	no_errors	ENST00000263847	ensembl	human	known	74_37	missense	18.18	27	6	SNP	1.000	A
OR6T1	219874	genome.wustl.edu	37	11	123813686	123813686	+	Missense_Mutation	SNP	G	G	A	rs559546518		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:123813686G>A	ENST00000321252.2	-	1	894	c.860C>T	c.(859-861)cCa>cTa	p.P287L		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	287						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(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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)		GAAGATGAATGGGTTCAAGAG	0.517																																																	0													265.0	229.0	242.0					11																	123813686		2202	4299	6501	SO:0001583	missense	0			AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.860C>T	11.37:g.123813686G>A	ENSP00000325203:p.Pro287Leu		Q6IFE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P287L	ENST00000321252.2	37	c.860	CCDS31700.1	11	.	.	.	.	.	.	.	.	.	.	G	17.26	3.345307	0.61073	.	.	ENSG00000181499	ENST00000321252	T	0.63417	-0.04	3.7	2.79	0.32731	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.72993	0.3530	L	0.61036	1.89	0.35565	D	0.805017	D	0.89917	1.0	D	0.97110	1.0	T	0.77699	-0.2490	9	0.87932	D	0	-53.1545	8.7059	0.34354	0.1159:0.0:0.8841:0.0	.	287	Q8NGN1	OR6T1_HUMAN	L	287	ENSP00000325203:P287L	ENSP00000325203:P287L	P	-	2	0	OR6T1	123318896	0.984000	0.35163	0.411000	0.26484	0.950000	0.60333	1.822000	0.39052	0.743000	0.32719	0.563000	0.77884	CCA	OR6T1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	ENSG00000181499		0.517	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6T1	HGNC	protein_coding	OTTHUMT00000387264.1		0.00	63	0	G	NM_001005187		123813686	-1			no_errors	ENST00000321252	ensembl	human	known	74_37	missense	10.00	18	2	SNP	0.974	A
PAX8	7849	genome.wustl.edu	37	2	114004339	114004339	+	Silent	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:114004339G>T	ENST00000429538.3	-	3	377	c.183C>A	c.(181-183)atC>atA	p.I61I	AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000263334.5_Silent_p.I61I|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000397647.3_Silent_p.I61I|PAX8_ENST00000348715.5_Silent_p.I61I|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000263335.7_Silent_p.I61I|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000436293.2_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	61	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				anatomical structure morphogenesis (GO:0009653)|branching involved in ureteric bud morphogenesis (GO:0001658)|cellular response to gonadotropin stimulus (GO:0071371)|central nervous system development (GO:0007417)|inner ear morphogenesis (GO:0042472)|kidney development (GO:0001822)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|mesonephros development (GO:0001823)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric distal convoluted tubule development (GO:0072221)|metanephric epithelium development (GO:0072207)|metanephric nephron tubule formation (GO:0072289)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process involved in metanephric collecting duct development (GO:1900215)|negative regulation of apoptotic process involved in metanephric nephron tubule development (GO:1900218)|negative regulation of mesenchymal cell apoptotic process involved in metanephric nephron morphogenesis (GO:0072305)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|otic vesicle development (GO:0071599)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of metanephric DCT cell differentiation (GO:2000594)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric field specification (GO:0039003)|pronephros development (GO:0048793)|regulation of apoptotic process (GO:0042981)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)|regulation of thyroid-stimulating hormone secretion (GO:2000612)|thyroid gland development (GO:0030878)|thyroid-stimulating hormone signaling pathway (GO:0038194)|transcription, DNA-templated (GO:0006351)|urogenital system development (GO:0001655)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid-stimulating hormone receptor activity (GO:0004996)|transcription regulatory region DNA binding (GO:0044212)		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						ACCTGCCAAGGATCTTGCTGA	0.622			T	PPARG	follicular thyroid		Thyroid dysgenesis																														Ovarian(188;7 2067 9084 29802 29892)			Dom	yes		2	2q12-q14	7849	paired box gene 8	yes	E	0													66.0	72.0	70.0					2																	114004339		2153	4282	6435	SO:0001819	synonymous_variant	0			X69699	CCDS42735.1, CCDS42736.1, CCDS46398.1, CCDS46399.1	2q13	2011-06-20	2007-07-12		ENSG00000125618	ENSG00000125618		"""Paired boxes"", ""Homeoboxes / PRD class"""	8622	protein-coding gene	gene with protein product		167415	"""paired box gene 8"""			8431641, 7981748	Standard	NM_003466		Approved		uc010yxt.2	Q06710	OTTHUMG00000128529	ENST00000429538.3:c.183C>A	2.37:g.114004339G>T			Q09155|Q16337|Q16338|Q16339|Q4ZG35|Q96J49	Silent	SNP	pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.I61	ENST00000429538.3	37	c.183	CCDS46398.1	2																																																																																			PAX8	-	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	ENSG00000125618		0.622	PAX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX8	HGNC	protein_coding	OTTHUMT00000250353.5	-	0.00	28	0	G			114004339	-1	tier1	-	no_errors	ENST00000429538	ensembl	human	known	74_37	silent	12.12	29	4	SNP	1.000	T
OSBPL6	114880	genome.wustl.edu	37	2	179257143	179257143	+	Silent	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:179257143C>T	ENST00000190611.4	+	23	2827	c.2451C>T	c.(2449-2451)tcC>tcT	p.S817S	OSBPL6_ENST00000359685.3_Silent_p.S781S|OSBPL6_ENST00000315022.2_Silent_p.S821S|OSBPL6_ENST00000409631.1_Silent_p.S781S|OSBPL6_ENST00000409045.3_Silent_p.S786S|OSBPL6_ENST00000392505.2_Silent_p.S842S	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	817					lipid transport (GO:0006869)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TTCCAGGTTCCATGCCAACAA	0.443																																																	0													137.0	125.0	129.0					2																	179257143		2203	4300	6503	SO:0001819	synonymous_variant	0			AF392448	CCDS2277.1, CCDS2278.1, CCDS56150.1, CCDS56151.1, CCDS56152.1	2q32.1	2008-05-27			ENSG00000079156	ENSG00000079156		"""Oxysterol binding proteins"""	16388	protein-coding gene	gene with protein product	"""OSBP-related protein 6"""	606734				11483621	Standard	NM_001201480		Approved	ORP6	uc002uly.3	Q9BZF3	OTTHUMG00000132579	ENST00000190611.4:c.2451C>T	2.37:g.179257143C>T			B4DTW1|C4AMC0|C4AME4|D3DPF6|D3DPF7|Q4ZG68|Q53T68|Q59H61|Q7Z4Q1|Q86V84|Q8N9T0|Q96SR1	Silent	SNP	pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S821	ENST00000190611.4	37	c.2463	CCDS2277.1	2																																																																																			OSBPL6	-	pfam_Oxysterol-bd	ENSG00000079156		0.443	OSBPL6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OSBPL6	HGNC	protein_coding	OTTHUMT00000334393.2		0.00	86	0	C	NM_032523		179257143	+1			no_errors	ENST00000315022	ensembl	human	known	74_37	silent	10.53	34	4	SNP	1.000	T
PCDHA7	56141	genome.wustl.edu	37	5	140215472	140215472	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr5:140215472C>A	ENST00000525929.1	+	1	1504	c.1504C>A	c.(1504-1506)Cgc>Agc	p.R502S	PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R502S|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	502	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGGCGAGCGCGCGCTGTC	0.682																																					NSCLC(160;258 2013 5070 22440 28951)												0													63.0	67.0	65.0					5																	140215472		2203	4297	6500	SO:0001583	missense	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.1504C>A	5.37:g.140215472C>A	ENSP00000436426:p.Arg502Ser		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.R502S	ENST00000525929.1	37	c.1504	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	12.90	2.076164	0.36662	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.01613	4.73;4.73	4.01	3.11	0.35812	Cadherin (4);Cadherin-like (1);	0.000000	0.31797	U	0.007047	T	0.03053	0.0090	N	0.10760	0.04	0.22156	N	0.999323	P;D	0.64830	0.766;0.994	P;D	0.72982	0.591;0.979	T	0.48234	-0.9053	10	0.49607	T	0.09	.	11.0894	0.48106	0.3367:0.6633:0.0:0.0	.	502;502	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	S	502	ENSP00000436426:R502S;ENSP00000367365:R502S	ENSP00000367365:R502S	R	+	1	0	PCDHA7	140195656	0.000000	0.05858	0.991000	0.47740	0.317000	0.28152	-0.386000	0.07370	0.764000	0.33197	0.306000	0.20318	CGC	PCDHA7	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000204963		0.682	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2	-	0.00	168	0	C	NM_018910		140215472	+1	tier1	-	no_errors	ENST00000525929	ensembl	human	known	74_37	missense	37.68	43	26	SNP	0.859	A
PDGFRA	5156	genome.wustl.edu	37	4	55161318	55161318	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr4:55161318T>C	ENST00000257290.5	+	23	3480	c.3149T>C	c.(3148-3150)aTt>aCt	p.I1050T	FIP1L1_ENST00000507166.1_Missense_Mutation_p.I810T	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1050	Ser-rich.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.I1050T(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GAGAGTGCCATTGAGACGGGT	0.517			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	1	Substitution - Missense(1)	central_nervous_system(1)											128.0	114.0	119.0					4																	55161318		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.3149T>C	4.37:g.55161318T>C	ENSP00000257290:p.Ile1050Thr		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.I1050T	ENST00000257290.5	37	c.3149	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	T	22.4	4.278433	0.80692	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	T;T	0.77750	-1.12;-0.94	5.75	5.75	0.90469	.	0.000000	0.32416	U	0.006125	D	0.84772	0.5546	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	D	0.84279	0.0493	10	0.41790	T	0.15	.	16.044	0.80704	0.0:0.0:0.0:1.0	.	1050	P16234	PGFRA_HUMAN	T	810;1050	ENSP00000423325:I810T;ENSP00000257290:I1050T	ENSP00000423325:I810T	I	+	2	0	FIP1L1;PDGFRA	54856075	1.000000	0.71417	0.989000	0.46669	0.934000	0.57294	7.698000	0.84413	2.198000	0.70561	0.379000	0.24179	ATT	PDGFRA	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt	ENSG00000134853		0.517	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	HGNC	protein_coding	OTTHUMT00000250598.2		0.00	82	0	T	NM_006206		55161318	+1			no_errors	ENST00000257290	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.603	C
PEAK1	79834	genome.wustl.edu	37	15	77472942	77472942	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr15:77472942C>T	ENST00000560626.2	-	4	1802	c.1327G>A	c.(1327-1329)Gtt>Att	p.V443I	PEAK1_ENST00000558305.1_Missense_Mutation_p.V443I|PEAK1_ENST00000312493.4_Missense_Mutation_p.V443I			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	443					cell migration (GO:0016477)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										TGCCCAGCAACATCTGTAGAG	0.463																																																	0													205.0	193.0	197.0					15																	77472942		1965	4162	6127	SO:0001583	missense	0				CCDS42062.1	15q24.3	2013-09-27			ENSG00000173517	ENSG00000173517			29431	protein-coding gene	gene with protein product		614248				16879967, 20534451	Standard	NM_024776		Approved	KIAA2002, sgk269		Q9H792	OTTHUMG00000172618	ENST00000560626.2:c.1327G>A	15.37:g.77472942C>T	ENSP00000452796:p.Val443Ile		Q6ZS78|Q8NAZ4|Q8NCM3|Q8TEG7	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,pfscan_Prot_kinase_dom	p.V443I	ENST00000560626.2	37	c.1327	CCDS42062.1	15	.	.	.	.	.	.	.	.	.	.	C	0.233	-1.019325	0.02078	.	.	ENSG00000173517	ENST00000312493	T	0.42900	0.96	5.5	-1.12	0.09808	.	0.789044	0.09167	N	0.839432	T	0.17023	0.0409	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30031	-0.9992	10	0.12766	T	0.61	-0.7765	6.8677	0.24102	0.0:0.4606:0.151:0.3884	.	443	Q9H792	PEAK1_HUMAN	I	443	ENSP00000309230:V443I	ENSP00000309230:V443I	V	-	1	0	AC087465.1	75259997	0.782000	0.28689	0.014000	0.15608	0.864000	0.49448	1.221000	0.32503	0.074000	0.16767	-0.378000	0.06908	GTT	PEAK1	-	NULL	ENSG00000173517		0.463	PEAK1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PEAK1	HGNC	protein_coding	OTTHUMT00000419483.3	-	0.00	71	0	C			77472942	-1	tier1	-	no_errors	ENST00000312493	ensembl	human	known	74_37	missense	40.91	26	18	SNP	0.000	T
PITPNM2	57605	genome.wustl.edu	37	12	123498531	123498531	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:123498531C>A	ENST00000542749.1	-	2	200	c.137G>T	c.(136-138)cGg>cTg	p.R46L	PITPNM2_ENST00000280562.5_Missense_Mutation_p.R46L|PITPNM2_ENST00000392428.1_Missense_Mutation_p.R46L|PITPNM2_ENST00000546049.1_Missense_Mutation_p.R46L|RN7SL133P_ENST00000585256.1_RNA|PITPNM2_ENST00000320201.4_Missense_Mutation_p.R46L|PITPNM2_ENST00000451868.2_5'UTR			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	46					metabolic process (GO:0008152)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		TGTGTACGGCCGGTTCTCCAG	0.592																																																	0													133.0	113.0	120.0					12																	123498531		2203	4300	6503	SO:0001583	missense	0			AF334585	CCDS9242.1, CCDS73543.1	12q24.31	2008-02-05				ENSG00000090975			21044	protein-coding gene	gene with protein product		608920				10022914	Standard	XM_005253582		Approved	RDGBA2, RDGB2, NIR3	uc001uej.1	Q9BZ72		ENST00000542749.1:c.137G>T	12.37:g.123498531C>A	ENSP00000437611:p.Arg46Leu		Q9P271	Missense_Mutation	SNP	pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer	p.R46L	ENST00000542749.1	37	c.137	CCDS9242.1	12	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230848	0.79688	.	.	ENSG00000090975	ENST00000280562;ENST00000320201;ENST00000392428;ENST00000542749	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	4.42	3.53	0.40419	START-like domain (1);	0.217461	0.35739	N	0.003017	T	0.56062	0.1960	L	0.60455	1.87	0.24148	N	0.995702	P;P;P	0.51147	0.942;0.757;0.941	P;P;P	0.61328	0.887;0.482;0.737	T	0.50575	-0.8812	10	0.72032	D	0.01	-25.8396	12.6112	0.56552	0.0:0.9182:0.0:0.0818	.	46;46;46	A5D8U3;Q9BZ72-2;Q9BZ72	.;.;PITM2_HUMAN	L	46	ENSP00000280562:R46L;ENSP00000322218:R46L;ENSP00000376223:R46L;ENSP00000437611:R46L	ENSP00000280562:R46L	R	-	2	0	PITPNM2	122064484	1.000000	0.71417	0.997000	0.53966	0.952000	0.60782	3.671000	0.54576	0.982000	0.38575	-0.140000	0.14226	CGG	PITPNM2	-	pfam_PI_transfer	ENSG00000090975		0.592	PITPNM2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PITPNM2	HGNC	protein_coding	OTTHUMT00000401342.1	-	0.00	19	0	C	NM_020845		123498531	-1	tier1	-	no_errors	ENST00000320201	ensembl	human	known	74_37	missense	21.05	15	4	SNP	1.000	A
PITPNM3	83394	genome.wustl.edu	37	17	6380423	6380423	+	Silent	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:6380423C>T	ENST00000262483.8	-	9	1098	c.1011G>A	c.(1009-1011)ccG>ccA	p.P337P	PITPNM3_ENST00000421306.3_Silent_p.P301P	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3	337					phosphatidylinositol metabolic process (GO:0046488)|phospholipid transport (GO:0015914)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)|receptor tyrosine kinase binding (GO:0030971)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TCCGCGGCAACGGCCTCTTGG	0.592																																																	0													128.0	98.0	108.0					17																	6380423		2203	4300	6503	SO:0001819	synonymous_variant	0			AF334586	CCDS11076.1, CCDS54080.1	17p13	2013-07-18	2013-07-18	2013-07-18	ENSG00000091622	ENSG00000091622		"""GPCR / Class A : Chemokine receptors : Atypical"""	21043	protein-coding gene	gene with protein product	"""atypical chemokine receptor 6"""	608921	"""cone rod dystrophy 5"""	CORD5		10022914	Standard	NM_031220		Approved	NIR1, RDGBA3, ACKR6	uc002gdd.4	Q9BZ71	OTTHUMG00000102039	ENST00000262483.8:c.1011G>A	17.37:g.6380423C>T			A1A5D0|F8WEW5|Q59GH9|Q9NPQ4	Silent	SNP	pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD	p.P337	ENST00000262483.8	37	c.1011	CCDS11076.1	17																																																																																			PITPNM3	-	NULL	ENSG00000091622		0.592	PITPNM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PITPNM3	HGNC	protein_coding	OTTHUMT00000219824.2	-	0.00	46	0	C	NM_031220		6380423	-1	tier1	-	no_errors	ENST00000262483	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.934	T
PKD2L2	27039	genome.wustl.edu	37	5	137230250	137230250	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr5:137230250C>T	ENST00000508883.1	+	4	502	c.476C>T	c.(475-477)aCt>aTt	p.T159I	PKD2L2_ENST00000290431.5_Missense_Mutation_p.T159I|PKD2L2_ENST00000508638.1_Missense_Mutation_p.T159I|PKD2L2_ENST00000502810.1_Missense_Mutation_p.T159I|PKD2L2_ENST00000350250.4_Missense_Mutation_p.T125I			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	159					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGCAAATATACTTCTGCAAAT	0.343																																																	0													80.0	78.0	78.0					5																	137230250		1832	4081	5913	SO:0001583	missense	0			AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.476C>T	5.37:g.137230250C>T	ENSP00000424725:p.Thr159Ile		A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2	p.T159I	ENST00000508883.1	37	c.476		5	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116306	0.37339	.	.	ENSG00000078795	ENST00000503015;ENST00000350250;ENST00000508638;ENST00000502810;ENST00000508883;ENST00000290431;ENST00000511176	T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	5.62	4.7	0.59300	Polycystin cation channel, PKD1/PKD2 (1);	0.178234	0.38381	N	0.001703	T	0.77598	0.4154	L	0.52573	1.65	0.09310	N	1	D;D;D	0.71674	0.965;0.998;0.985	P;D;P	0.68039	0.82;0.955;0.827	T	0.69011	-0.5258	10	0.87932	D	0	-12.9354	11.2334	0.48925	0.1163:0.6472:0.2364:0.0	.	159;159;159	Q9NZM6;E9PC91;Q9NZM6-5	PK2L2_HUMAN;.;.	I	69;125;159;159;159;159;69	ENSP00000424885:T69I;ENSP00000344177:T125I;ENSP00000423382:T159I;ENSP00000425513:T159I;ENSP00000424725:T159I;ENSP00000290431:T159I;ENSP00000423926:T69I	ENSP00000290431:T159I	T	+	2	0	PKD2L2	137258149	0.000000	0.05858	0.278000	0.24718	0.412000	0.31113	1.054000	0.30455	2.634000	0.89283	0.591000	0.81541	ACT	PKD2L2	-	pfam_PKD1_2_channel	ENSG00000078795		0.343	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	PKD2L2	HGNC	protein_coding	OTTHUMT00000372521.1	-	0.00	85	0	C	NM_014386		137230250	+1	tier1	-	no_errors	ENST00000508883	ensembl	human	known	74_37	missense	30.30	23	10	SNP	0.002	T
PLCE1	51196	genome.wustl.edu	37	10	95892039	95892039	+	Missense_Mutation	SNP	G	G	T	rs201727715		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr10:95892039G>T	ENST00000371380.3	+	2	1550	c.1315G>T	c.(1315-1317)Ggt>Tgt	p.G439C	PLCE1_ENST00000260766.3_Missense_Mutation_p.G439C|PLCE1_ENST00000371385.3_Missense_Mutation_p.G131C|PLCE1_ENST00000371375.1_Missense_Mutation_p.G131C			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	439					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)	p.G439C(2)|p.G131C(2)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GATAAGCGTTGGTCCATGCTT	0.488																																																	4	Substitution - Missense(4)	lung(4)											150.0	154.0	153.0					10																	95892039		2094	4210	6304	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.1315G>T	10.37:g.95892039G>T	ENSP00000360431:p.Gly439Cys		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.G439C	ENST00000371380.3	37	c.1315	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516519	0.27123	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.41	3.5	0.40072	Ras guanine nucleotide exchange factor, domain (1);	0.639221	0.14348	N	0.325298	T	0.34745	0.0908	N	0.24115	0.695	0.26949	N	0.966064	D;D;D	0.67145	0.993;0.996;0.993	P;P;P	0.59288	0.628;0.855;0.72	T	0.11036	-1.0604	10	0.87932	D	0	.	10.1651	0.42875	0.1627:0.0:0.8373:0.0	.	439;131;439	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	C	439;439;131;131	ENSP00000260766:G439C;ENSP00000360431:G439C;ENSP00000360438:G131C;ENSP00000360426:G131C	ENSP00000260766:G439C	G	+	1	0	PLCE1	95882029	0.090000	0.21635	0.540000	0.28089	0.002000	0.02628	0.464000	0.21988	1.198000	0.43158	0.563000	0.77884	GGT	PLCE1	-	superfamily_Ras_GEF_dom	ENSG00000138193		0.488	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	-	0.00	49	0	G	NM_016341		95892039	+1	tier1	-	no_errors	ENST00000260766	ensembl	human	known	74_37	missense	33.33	16	8	SNP	0.655	T
PLEKHA5	54477	genome.wustl.edu	37	12	19408050	19408050	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:19408050A>G	ENST00000299275.6	+	5	389	c.383A>G	c.(382-384)tAt>tGt	p.Y128C	PLEKHA5_ENST00000539256.1_5'UTR|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.Y128C|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.Y20C|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.Y128C|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.Y20C|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.Y128C|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.Y128C|PLEKHA5_ENST00000309364.4_Missense_Mutation_p.Y128C|PLEKHA5_ENST00000538714.1_Missense_Mutation_p.Y128C	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	128					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GCTTCTAACTATAACGTGACT	0.343																																					Pancreas(196;329 2193 11246 14234 19524)												0													121.0	115.0	117.0					12																	19408050		2203	4300	6503	SO:0001583	missense	0			AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.383A>G	12.37:g.19408050A>G	ENSP00000299275:p.Tyr128Cys		A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom	p.Y128C	ENST00000299275.6	37	c.383	CCDS8682.1	12	.	.	.	.	.	.	.	.	.	.	A	19.88	3.909182	0.72868	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000359180;ENST00000542828;ENST00000309364;ENST00000412219;ENST00000429027;ENST00000299275;ENST00000538714;ENST00000538305;ENST00000424268;ENST00000543806;ENST00000536974	T;T;T;T;T;T;T;T;T;T;T	0.30981	2.63;2.63;2.63;2.63;2.63;2.63;2.63;1.51;2.86;2.88;2.88	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.45498	0.1345	L	0.40543	1.245	0.45150	D	0.998163	D;D;D;D;D;D	0.89917	0.989;1.0;1.0;0.999;1.0;1.0	D;D;D;D;D;D	0.97110	0.973;1.0;0.999;0.982;0.999;1.0	T	0.36212	-0.9757	10	0.49607	T	0.09	-13.8494	13.1934	0.59723	1.0:0.0:0.0:0.0	.	128;20;20;128;128;128	Q9HAU0-4;F5H0I0;E7EME8;B4DHK5;Q9HAU0;Q9HAU0-2	.;.;.;.;PKHA5_HUMAN;.	C	128;128;128;128;128;128;128;128;128;20;20;20;20	ENSP00000325155:Y128C;ENSP00000347560:Y128C;ENSP00000352104:Y128C;ENSP00000311239:Y128C;ENSP00000404296:Y128C;ENSP00000299275:Y128C;ENSP00000439673:Y128C;ENSP00000446308:Y20C;ENSP00000400411:Y20C;ENSP00000439837:Y20C;ENSP00000440371:Y20C	ENSP00000299275:Y128C	Y	+	2	0	PLEKHA5	19299317	1.000000	0.71417	0.885000	0.34714	0.940000	0.58332	7.955000	0.87856	2.041000	0.60428	0.377000	0.23210	TAT	PLEKHA5	-	NULL	ENSG00000052126		0.343	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHA5	HGNC	protein_coding	OTTHUMT00000397013.1	-	0.00	64	0	A	NM_019012		19408050	+1	tier1	-	no_errors	ENST00000317589	ensembl	human	known	74_37	missense	25.93	20	7	SNP	1.000	G
PLEKHB2	55041	genome.wustl.edu	37	2	131904275	131904275	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:131904275G>T	ENST00000403716.1	+	8	1158	c.598G>T	c.(598-600)Gac>Tac	p.D200Y	PLEKHB2_ENST00000234115.6_Missense_Mutation_p.D199Y|PLEKHB2_ENST00000409158.1_Missense_Mutation_p.D208Y|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.D200Y|PLEKHB2_ENST00000438882.2_Silent_p.A163A|PLEKHB2_ENST00000439822.2_Silent_p.A155A|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.D152Y|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.D200Y|PLEKHB2_ENST00000303908.3_Intron	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	200						endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		CAACGACAGCGACCTGGCACT	0.517																																																	0													164.0	170.0	168.0					2																	131904275		2203	4300	6503	SO:0001583	missense	0				CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.598G>T	2.37:g.131904275G>T	ENSP00000385892:p.Asp200Tyr		B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D200Y	ENST00000403716.1	37	c.598	CCDS46413.1	2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538722	0.85917	.	.	ENSG00000115762	ENST00000409158;ENST00000403716;ENST00000234115;ENST00000538982;ENST00000409612;ENST00000409279	.	.	.	5.59	5.59	0.84812	.	.	.	.	.	T	0.79464	0.4450	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	T	0.80699	-0.1266	8	0.62326	D	0.03	.	17.1543	0.86785	0.0:0.0:1.0:0.0	.	199;199;200;208	Q53FF1;Q96CS7-3;Q96CS7;B8ZZN1	.;.;PKHB2_HUMAN;.	Y	208;200;199;152;200;200	.	ENSP00000234115:D199Y	D	+	1	0	PLEKHB2	131620745	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	7.690000	0.84178	2.654000	0.90174	0.644000	0.83932	GAC	PLEKHB2	-	NULL	ENSG00000115762		0.517	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHB2	HGNC	protein_coding	OTTHUMT00000331304.2	-	0.00	58	0	G	NM_017958		131904275	+1	tier1	-	no_errors	ENST00000403716	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	T
PMM2	5373	genome.wustl.edu	37	16	8895707	8895707	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr16:8895707delA	ENST00000268261.4	+	2	184	c.118delA	c.(118-120)aaafs	p.K40fs	PMM2_ENST00000569958.1_Frame_Shift_Del_p.K40fs|PMM2_ENST00000537352.1_5'UTR|PMM2_ENST00000566983.1_Frame_Shift_Del_p.K13fs|PMM2_ENST00000539622.1_5'UTR	NM_000303.2	NP_000294.1	O15305	PMM2_HUMAN	phosphomannomutase 2	40					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|mannose biosynthetic process (GO:0019307)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	phosphomannomutase activity (GO:0004615)			breast(3)|cervix(1)|endometrium(2)|large_intestine(1)|ovary(1)|skin(1)	9						GCAGAAGATCAAAATCGGAGT	0.363																																					Esophageal Squamous(154;1308 1842 2827 29799 42829)												0													61.0	61.0	61.0					16																	8895707		2197	4300	6497	SO:0001589	frameshift_variant	0			BC008310	CCDS10536.1	16p13	2012-09-06			ENSG00000140650	ENSG00000140650	5.3.1.8		9115	protein-coding gene	gene with protein product	"""phosphomannose isomerase 1"""	601785		CDG1		9140401	Standard	NM_000303		Approved	CDGS, CDG1a, PMI, PMI1	uc002czf.4	O15305	OTTHUMG00000129697	ENST00000268261.4:c.118delA	16.37:g.8895707delA	ENSP00000268261:p.Lys40fs		A8K672|B7Z6R0|D3DUF3	Frame_Shift_Del	DEL	pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB	p.I41fs	ENST00000268261.4	37	c.118	CCDS10536.1	16																																																																																			PMM2	-	pfam_PMM,pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIB	ENSG00000140650		0.363	PMM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMM2	HGNC	protein_coding	OTTHUMT00000251904.1		0.00	75	0	A	NM_000303		8895707	+1	tier1		no_errors	ENST00000268261	ensembl	human	known	74_37	frame_shift_del	6.45	29	2	DEL	1.000	-
POU3F3	5455	genome.wustl.edu	37	2	105472850	105472852	+	In_Frame_Del	DEL	CGG	CGG	-	rs550439793|rs577550493	byFrequency	TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	CGG	CGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:105472850_105472852delCGG	ENST00000361360.2	+	1	882_884	c.882_884delCGG	c.(880-885)cacggc>cac	p.G300del	RP11-13J10.1_ENST00000598623.1_RNA	NM_006236.1	NP_006227.1	P20264	PO3F3_HUMAN	POU class 3 homeobox 3	300	Gly-rich.				central nervous system development (GO:0007417)|cerebral cortex radially oriented cell migration (GO:0021799)|forebrain ventricular zone progenitor cell division (GO:0021869)|metanephric ascending thin limb development (GO:0072218)|metanephric DCT cell differentiation (GO:0072240)|metanephric loop of Henle development (GO:0072236)|metanephric macula densa development (GO:0072227)|metanephric thick ascending limb development (GO:0072233)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						CCCCGCACCAcggcggcggcggc	0.749																																																	0										18,2126		3,12,1057						2.0	1.0			4	52,4812		3,46,2383	no	coding	POU3F3	NM_006236.1		6,58,3440	A1A1,A1R,RR		1.0691,0.8396,0.9989				70,6938				SO:0001651	inframe_deletion	0				CCDS33265.1	2q12.1	2011-06-20	2007-07-13		ENSG00000198914	ENSG00000198914		"""Homeoboxes / POU class"""	9216	protein-coding gene	gene with protein product		602480	"""POU domain class 3, transcription factor 3"""				Standard	NM_006236		Approved	BRN1, OTF8	uc010ywg.2	P20264	OTTHUMG00000153067	ENST00000361360.2:c.882_884delCGG	2.37:g.105472859_105472861delCGG	ENSP00000355001:p.Gly300del		P78379|Q4ZG25	In_Frame_Del	DEL	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.G298in_frame_del	ENST00000361360.2	37	c.882_884	CCDS33265.1	2																																																																																			POU3F3	-	pirsf_Transcription_factor_POU	ENSG00000198914		0.749	POU3F3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	POU3F3	HGNC	protein_coding	OTTHUMT00000329335.2		0.00	36	0	CGG			105472852	+1	tier1		no_errors	ENST00000361360	ensembl	human	known	74_37	in_frame_del	18.18	9	2	DEL	1.000:1.000:1.000	-
PPP1R1A	5502	genome.wustl.edu	37	12	54974789	54974789	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:54974789T>C	ENST00000257905.8	-	6	619	c.449A>G	c.(448-450)gAa>gGa	p.E150G	PPP1R1A_ENST00000547431.1_Missense_Mutation_p.N77D	NM_006741.3	NP_006732	Q13522	PPR1A_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1A	150	Interaction with PPP1R15A.				glycogen metabolic process (GO:0005977)|negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein serine/threonine phosphatase inhibitor activity (GO:0004865)			lung(2)	2						TGTGCTGGGTTCCTTACTGCC	0.542																																																	0													223.0	211.0	214.0					12																	54974789		1891	4119	6010	SO:0001583	missense	0			U48707	CCDS44912.1	12q13.2	2012-04-17			ENSG00000135447	ENSG00000135447	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9286	protein-coding gene	gene with protein product		613246				8611507	Standard	NM_006741		Approved		uc001sgg.2	Q13522	OTTHUMG00000169934	ENST00000257905.8:c.449A>G	12.37:g.54974789T>C	ENSP00000257905:p.Glu150Gly		Q6IB01|Q8TBJ2|Q8WWV2	Missense_Mutation	SNP	pfam_PPI_1DARPP-32	p.E150G	ENST00000257905.8	37	c.449	CCDS44912.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.25|13.25	2.182216|2.182216	0.38511|0.38511	.|.	.|.	ENSG00000135447|ENSG00000135447	ENST00000257905|ENST00000379690;ENST00000553113	T|.	0.32023|.	1.47|.	4.95|4.95	4.95|4.95	0.65309|0.65309	.|.	0.929407|.	0.08849|.	N|.	0.884806|.	T|T	0.43211|0.43211	0.1237|0.1237	L|L	0.40543|0.40543	1.245|1.245	0.19945|0.19945	N|N	0.999946|0.999946	P|.	0.35468|.	0.503|.	B|.	0.40506|.	0.331|.	T|T	0.37596|0.37596	-0.9699|-0.9699	10|6	0.39692|0.56958	T|D	0.17|0.05	.|.	11.3181|11.3181	0.49405|0.49405	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	150|.	Q13522|.	PPR1A_HUMAN|.	G|D	150|77;69	ENSP00000257905:E150G|.	ENSP00000257905:E150G|ENSP00000369012:N77D	E|N	-|-	2|1	0|0	PPP1R1A|PPP1R1A	53261056|53261056	0.511000|0.511000	0.26179|0.26179	0.073000|0.073000	0.20177|0.20177	0.385000|0.385000	0.30292|0.30292	2.151000|2.151000	0.42263|0.42263	1.990000|1.990000	0.58119|0.58119	0.533000|0.533000	0.62120|0.62120	GAA|AAC	PPP1R1A	-	pfam_PPI_1DARPP-32	ENSG00000135447		0.542	PPP1R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R1A	HGNC	protein_coding	OTTHUMT00000406604.1	-	0.00	127	0	T	NM_006741		54974789	-1	tier1	-	no_errors	ENST00000257905	ensembl	human	known	74_37	missense	21.74	36	10	SNP	0.551	C
PPP1R3A	5506	genome.wustl.edu	37	7	113519505	113519505	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr7:113519505G>T	ENST00000284601.3	-	4	1710	c.1642C>A	c.(1642-1644)Cct>Act	p.P548T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	548					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTATTTTAGGGTTACCCATC	0.408																																																	0													103.0	95.0	98.0					7																	113519505		2203	4300	6503	SO:0001583	missense	0			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1642C>A	7.37:g.113519505G>T	ENSP00000284601:p.Pro548Thr		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.P548T	ENST00000284601.3	37	c.1642	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	G	13.62	2.292020	0.40594	.	.	ENSG00000154415	ENST00000284601	T	0.17213	2.29	6.02	-10.0	0.00425	.	1.389210	0.04459	N	0.374025	T	0.08403	0.0209	L	0.40543	1.245	0.09310	N	1	P	0.39282	0.666	B	0.33339	0.162	T	0.15867	-1.0422	10	0.15952	T	0.53	-0.526	4.4499	0.11616	0.5167:0.1645:0.2366:0.0822	.	548	Q16821	PPR3A_HUMAN	T	548	ENSP00000284601:P548T	ENSP00000284601:P548T	P	-	1	0	PPP1R3A	113306741	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-1.382000	0.02546	-1.751000	0.01326	-0.140000	0.14226	CCT	PPP1R3A	-	NULL	ENSG00000154415		0.408	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	-	0.00	64	0	G	NM_002711		113519505	-1	tier1	-	no_errors	ENST00000284601	ensembl	human	known	74_37	missense	16.67	25	5	SNP	0.000	T
ARL6IP6	151188	genome.wustl.edu	37	2	153572602	153572602	+	5'Flank	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:153572602C>T	ENST00000326446.5	+	0	0				PRPF40A_ENST00000410080.1_Missense_Mutation_p.M41I|PRPF40A_ENST00000486100.1_5'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation factor-like 6 interacting protein 6							integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						CCATAGGGTGCATTCCCATTG	0.463																																																	0													107.0	102.0	103.0					2																	153572602		1905	4131	6036	SO:0001631	upstream_gene_variant	0			AK023109	CCDS2197.1	2q23	2014-05-12	2014-05-12		ENSG00000177917	ENSG00000177917			24048	protein-coding gene	gene with protein product							Standard	NM_152522		Approved	MGC33864	uc002tyn.3	Q8N6S5	OTTHUMG00000131901		2.37:g.153572602C>T	Exception_encountered		B2RDS6|Q7Z4G7	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom,prints_Antifreeze_1	p.M41I	ENST00000326446.5	37	c.123	CCDS2197.1	2	.	.	.	.	.	.	.	.	.	.	C	16.55	3.156007	0.57259	.	.	ENSG00000196504	ENST00000410080;ENST00000356402;ENST00000359961;ENST00000545856;ENST00000493468;ENST00000448428	T	0.33865	1.39	5.06	4.12	0.48240	.	0.123259	0.85682	D	0.000000	T	0.19846	0.0477	N	0.12182	0.205	0.44469	D	0.9974	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.001;0.003;0.0	T	0.06391	-1.0829	10	0.19147	T	0.46	-10.2861	12.2533	0.54610	0.1697:0.8303:0.0:0.0	.	68;68;41	O75400;O75400-3;E9PFS0	PR40A_HUMAN;.;.	I	41;68;41;68;61;47	ENSP00000386458:M41I	ENSP00000348770:M68I	M	-	3	0	PRPF40A	153280848	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.383000	0.59600	2.340000	0.79590	0.462000	0.41574	ATG	PRPF40A	-	NULL	ENSG00000196504		0.463	ARL6IP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF40A	HGNC	protein_coding	OTTHUMT00000254852.3	-	0.00	30	0	C	NM_152522		153572602	-1	tier1	-	no_errors	ENST00000410080	ensembl	human	known	74_37	missense	14.81	23	4	SNP	1.000	T
PRPS2	5634	genome.wustl.edu	37	X	12837706	12837706	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chrX:12837706G>C	ENST00000380668.5	+	5	739	c.611G>C	c.(610-612)cGg>cCg	p.R204P	PRPS2_ENST00000398491.2_Missense_Mutation_p.R207P	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	204					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GAAGTGGACCGGATGGTCCTG	0.527																																																	0													258.0	227.0	237.0					X																	12837706		2203	4300	6503	SO:0001583	missense	0			Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.611G>C	X.37:g.12837706G>C	ENSP00000370043:p.Arg204Pro		Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase	p.R207P	ENST00000380668.5	37	c.620	CCDS14150.1	X	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525273	0.64747	.	.	ENSG00000101911	ENST00000380668;ENST00000398491	T;T	0.57907	0.37;0.37	4.86	4.86	0.63082	Phosphoribosyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.50514	0.1620	L	0.49778	1.585	0.80722	D	1	B;B	0.30763	0.204;0.294	B;B	0.32211	0.142;0.088	T	0.51395	-0.8711	10	0.41790	T	0.15	-11.9925	17.4192	0.87510	0.0:0.0:1.0:0.0	.	204;207	P11908;P11908-2	PRPS2_HUMAN;.	P	204;207	ENSP00000370043:R204P;ENSP00000381504:R207P	ENSP00000370043:R204P	R	+	2	0	PRPS2	12747627	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.273000	0.95719	2.125000	0.65367	0.513000	0.50165	CGG	PRPS2	-	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase	ENSG00000101911		0.527	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRPS2	HGNC	protein_coding	OTTHUMT00000055772.2		0.00	22	0	G	NM_002765		12837706	+1			no_errors	ENST00000398491	ensembl	human	known	74_37	missense	20.00	8	2	SNP	1.000	C
PRSS22	64063	genome.wustl.edu	37	16	2906218	2906218	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr16:2906218C>T	ENST00000161006.3	-	3	211	c.146G>A	c.(145-147)cGg>cAg	p.R49Q	PRSS22_ENST00000574768.1_5'UTR|PRSS22_ENST00000571228.1_Missense_Mutation_p.R49Q|LA16c-325D7.1_ENST00000577140.1_RNA	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	49						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GCCCACAACCCGGTTCAGCTG	0.602																																																	0													60.0	59.0	59.0					16																	2906218		2198	4300	6498	SO:0001583	missense	0			AF321182	CCDS10481.1	16p13.3	2010-05-07			ENSG00000005001	ENSG00000005001		"""Serine peptidases / Serine peptidases"""	14368	protein-coding gene	gene with protein product	"""brain-specific serine protease 4"""	609343				11602603, 15701722	Standard	XM_005255473		Approved	hBSSP-4, BSSP-4, SP001LA	uc002cry.1	Q9GZN4	OTTHUMG00000128961	ENST00000161006.3:c.146G>A	16.37:g.2906218C>T	ENSP00000161006:p.Arg49Gln		O43342|Q6UXE0	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1	p.R49Q	ENST00000161006.3	37	c.146	CCDS10481.1	16	.	.	.	.	.	.	.	.	.	.	c	17.27	3.347500	0.61183	.	.	ENSG00000005001	ENST00000161006	D	0.84873	-1.91	4.86	4.86	0.63082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.000000	0.48286	D	0.000184	D	0.88328	0.6407	L	0.36672	1.1	0.20196	N	0.999922	D	0.69078	0.997	D	0.70227	0.968	T	0.82248	-0.0551	10	0.72032	D	0.01	.	15.5428	0.76070	0.0:1.0:0.0:0.0	.	49	Q9GZN4	BSSP4_HUMAN	Q	49	ENSP00000161006:R49Q	ENSP00000161006:R49Q	R	-	2	0	PRSS22	2846219	0.967000	0.33354	0.707000	0.30419	0.825000	0.46686	4.034000	0.57289	2.261000	0.74972	0.456000	0.33151	CGG	PRSS22	-	superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1	ENSG00000005001		0.602	PRSS22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS22	HGNC	protein_coding	OTTHUMT00000250943.1	-	0.00	61	0	C	NM_022119		2906218	-1	tier1	-	no_errors	ENST00000161006	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.704	T
PSG2	5670	genome.wustl.edu	37	19	43585989	43585990	+	Intron	INS	-	-	T	rs58620361	byFrequency	TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:43585989_43585990insT	ENST00000406487.1	-	2	163				PSG2_ENST00000491995.1_5'UTR	NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2						cell migration (GO:0016477)|female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				CACCCTTGGTGTTTTTTTTTTT	0.441																																																	0																																										SO:0001627	intron_variant	0				CCDS12616.1	19q13.1-q13.2	2013-01-29			ENSG00000242221	ENSG00000242221		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9519	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta-1-glycoprotein 7"", ""carcinoembryonic antigen SG8"""	176391		PSBG2		2377620	Standard	NM_031246		Approved	PSGGB, PSG1, CEA	uc002ovr.3	P11465	OTTHUMG00000151547	ENST00000406487.1:c.65-591->A	19.37:g.43586000_43586000dupT			Q8TCD9|Q9UEA4|Q9UQ78	RNA	INS	-	NULL	ENST00000406487.1	37	NULL	CCDS12616.1	19																																																																																			PSG2	-	-	ENSG00000242221		0.441	PSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG2	HGNC	protein_coding	OTTHUMT00000323083.1		0.00	24	0	-	NM_031246		43585990	-1	tier1		no_errors	ENST00000491995	ensembl	human	known	74_37	rna	50.00	2	2	INS	0.001:0.004	T
PTPRJ	5795	genome.wustl.edu	37	11	48149405	48149405	+	Silent	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:48149405C>T	ENST00000418331.2	+	7	1519	c.1167C>T	c.(1165-1167)agC>agT	p.S389S	PTPRJ_ENST00000440289.2_Silent_p.S389S	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	389	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGAAAGTCAGCGATAACGAGT	0.493																																																	0													162.0	136.0	145.0					11																	48149405		2201	4298	6499	SO:0001819	synonymous_variant	0			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.1167C>T	11.37:g.48149405C>T			Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,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.S389	ENST00000418331.2	37	c.1167	CCDS7945.1	11																																																																																			PTPRJ	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000149177		0.493	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1		0.00	51	0	C			48149405	+1			no_errors	ENST00000418331	ensembl	human	known	74_37	silent	10.00	18	2	SNP	0.000	T
PYGB	5834	genome.wustl.edu	37	20	25228820	25228820	+	Silent	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr20:25228820G>T	ENST00000216962.4	+	1	116	c.6G>T	c.(4-6)gcG>gcT	p.A2A		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	2				AK -> GE (in Ref. 1 and 2). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GCGCGATGGCGAAGCCGCTGA	0.692																																																	0													21.0	21.0	21.0					20																	25228820		2202	4297	6499	SO:0001819	synonymous_variant	0				CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.6G>T	20.37:g.25228820G>T			Q96AK1|Q9NPX8	Silent	SNP	pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas	p.A2	ENST00000216962.4	37	c.6	CCDS13171.1	20																																																																																			PYGB	-	NULL	ENSG00000100994		0.692	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYGB	HGNC	protein_coding	OTTHUMT00000078415.2	-	0.00	62	0	G	NM_002862		25228820	+1	tier1	-	no_errors	ENST00000216962	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.289	T
QRICH1	54870	genome.wustl.edu	37	3	49094314	49094316	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:49094314_49094316delTGC	ENST00000395443.2	-	3	1789_1791	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_ENST00000357496.2_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000424300.1_In_Frame_Del_p.439_440QQ>Q|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	439	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562																																																	0																																										SO:0001651	inframe_deletion	0				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1317_1319delGCA	3.37:g.49094323_49094325delTGC	ENSP00000378830:p.Gln440del		Q4G0F7|Q7L621|Q8TEA5	In_Frame_Del	DEL	pfam_DUF3504,superfamily_DEATH-like_dom	p.Q440in_frame_del	ENST00000395443.2	37	c.1319_1317	CCDS2787.1	3																																																																																			QRICH1	-	NULL	ENSG00000198218		0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRICH1	HGNC	protein_coding	OTTHUMT00000345669.1		0.00	43	0	TGC	NM_017730		49094316	-1	tier1		no_errors	ENST00000357496	ensembl	human	known	74_37	in_frame_del	11.76	15	2	DEL	1.000:1.000:1.000	-
RBM26	64062	genome.wustl.edu	37	13	79928659	79928659	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr13:79928659T>A	ENST00000438737.2	-	13	2341	c.1901A>T	c.(1900-1902)cAg>cTg	p.Q634L	RBM26_ENST00000267229.7_Missense_Mutation_p.Q631L|RBM26_ENST00000438724.1_Missense_Mutation_p.Q634L			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	634					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TTTGACTGACTGCTTCACAAC	0.453																																																	0													71.0	69.0	70.0					13																	79928659		2203	4300	6503	SO:0001583	missense	0			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.1901A>T	13.37:g.79928659T>A	ENSP00000387531:p.Gln634Leu		B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Missense_Mutation	SNP	pfam_PWI_dom,superfamily_PWI_dom,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.Q634L	ENST00000438737.2	37	c.1901		13	.	.	.	.	.	.	.	.	.	.	T	17.80	3.478697	0.63849	.	.	ENSG00000139746	ENST00000267229;ENST00000438737;ENST00000327303;ENST00000438724	D;D	0.93712	-3.27;-3.27	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.95582	0.8564	L	0.57536	1.79	0.80722	D	1	D;D;D;D	0.62365	0.99;0.991;0.985;0.991	D;P;P;P	0.69824	0.966;0.895;0.787;0.895	D	0.95069	0.8202	9	.	.	.	-9.7352	16.1251	0.81386	0.0:0.0:0.0:1.0	.	15;634;634;631	B4DZH7;Q5T8P6-2;Q5T8P6;Q5T8P6-3	.;.;RBM26_HUMAN;.	L	631;635;634;634	ENSP00000267229:Q631L;ENSP00000390222:Q634L	.	Q	-	2	0	RBM26	78826660	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.310000	0.78947	2.267000	0.75376	0.477000	0.44152	CAG	RBM26	-	NULL	ENSG00000139746		0.453	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	RBM26	HGNC	protein_coding	OTTHUMT00000045373.4		0.00	34	0	T	NM_022118		79928659	-1			no_errors	ENST00000438724	ensembl	human	known	74_37	missense	28.57	10	4	SNP	1.000	A
RELL1	768211	genome.wustl.edu	37	4	37650945	37650945	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr4:37650945G>A	ENST00000454158.2	-	2	354	c.266C>T	c.(265-267)aCa>aTa	p.T89I	RELL1_ENST00000314117.4_Missense_Mutation_p.T89I	NM_001085400.1	NP_001078869.1	Q8IUW5	RELL1_HUMAN	RELT-like 1	89						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						TGCTTCTGTTGTACAACGATA	0.418																																																	0													171.0	175.0	174.0					4																	37650945		1902	4120	6022	SO:0001583	missense	0			AK025431	CCDS43221.1	4p14	2011-10-11				ENSG00000181826			27379	protein-coding gene	gene with protein product		611212				16389068	Standard	NM_001085399		Approved		uc003gsz.2	Q8IUW5		ENST00000454158.2:c.266C>T	4.37:g.37650945G>A	ENSP00000398778:p.Thr89Ile		Q8NBK1	Missense_Mutation	SNP	pfam_TNF_rcpt_RELT	p.T89I	ENST00000454158.2	37	c.266	CCDS43221.1	4	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702282	0.68501	.	.	ENSG00000181826	ENST00000314117;ENST00000454158;ENST00000512114	T;T;T	0.36699	1.27;1.27;1.24	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.61211	0.2329	M	0.68952	2.095	0.50632	D	0.99988	D	0.89917	1.0	D	0.91635	0.999	T	0.63453	-0.6634	10	0.87932	D	0	-16.1688	18.9955	0.92810	0.0:0.0:1.0:0.0	.	89	Q8IUW5	RELL1_HUMAN	I	89;89;110	ENSP00000313385:T89I;ENSP00000398778:T89I;ENSP00000424031:T110I	ENSP00000313385:T89I	T	-	2	0	RELL1	37327340	1.000000	0.71417	0.963000	0.40424	0.702000	0.40608	4.934000	0.63491	2.577000	0.86979	0.655000	0.94253	ACA	RELL1	-	pfam_TNF_rcpt_RELT	ENSG00000181826		0.418	RELL1-002	KNOWN	alternative_3_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	RELL1	HGNC	protein_coding	OTTHUMT00000360485.1		0.00	72	0	G	NM_001085400		37650945	-1			no_errors	ENST00000314117	ensembl	human	known	74_37	missense	9.52	19	2	SNP	0.994	A
RFX7	64864	genome.wustl.edu	37	15	56386135	56386135	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr15:56386135G>A	ENST00000559447.2	-	9	3771	c.3500C>T	c.(3499-3501)gCa>gTa	p.A1167V	RFX7_ENST00000317318.6_Missense_Mutation_p.A1264V|RFX7_ENST00000422057.1_Missense_Mutation_p.A1167V|RFX7_ENST00000423270.1_Missense_Mutation_p.A1264V			Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1167					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACCTCTCACTGCATCATCATT	0.418																																																	0													94.0	86.0	88.0					15																	56386135		1880	4106	5986	SO:0001583	missense	0					15q21.3	2008-08-04	2008-08-04	2008-08-04		ENSG00000181827			25777	protein-coding gene	gene with protein product		612660	"""regulatory factor X domain containing 2"""	RFXDC2			Standard	NM_022841		Approved	FLJ12994	uc010bfn.3	Q2KHR2		ENST00000559447.2:c.3500C>T	15.37:g.56386135G>A	ENSP00000453281:p.Ala1167Val		Q6ZRR1|Q6ZTY6|Q8N3J0|Q9H7A9|Q9H956	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.A1264V	ENST00000559447.2	37	c.3791		15	.	.	.	.	.	.	.	.	.	.	G	14.91	2.675981	0.47886	.	.	ENSG00000181827	ENST00000422057;ENST00000317318;ENST00000423270	T;T;T	0.58652	0.33;0.32;0.33	6.17	6.17	0.99709	.	0.117196	0.56097	D	0.000022	T	0.50752	0.1634	L	0.27053	0.805	0.43390	D	0.995507	B;B	0.31383	0.058;0.321	B;B	0.31812	0.033;0.136	T	0.51204	-0.8735	10	0.87932	D	0	-11.2236	19.8676	0.96824	0.0:0.0:1.0:0.0	.	1167;1167	Q2KHR2;C9JU50	RFX7_HUMAN;.	V	1167;1264;1264	ENSP00000387504:A1167V;ENSP00000313299:A1264V;ENSP00000397644:A1264V	ENSP00000313299:A1264V	A	-	2	0	RFX7	54173427	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	5.196000	0.65136	2.941000	0.99782	0.655000	0.94253	GCA	RFX7	-	NULL	ENSG00000181827		0.418	RFX7-001	KNOWN	non_canonical_U12|basic	protein_coding	RFX7	HGNC	protein_coding	OTTHUMT00000418841.3	-	0.00	45	0	G	NM_022841		56386135	-1	tier1	-	no_errors	ENST00000423270	ensembl	human	known	74_37	missense	20.00	12	3	SNP	1.000	A
RICTOR	253260	genome.wustl.edu	37	5	38942960	38942960	+	Nonsense_Mutation	SNP	A	A	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr5:38942960A>C	ENST00000357387.3	-	37	5057	c.5027T>G	c.(5026-5028)tTa>tGa	p.L1676*	RICTOR_ENST00000296782.5_Nonsense_Mutation_p.L1700*	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					ATCTTGAAATAATTCTTGTAT	0.333																																																	0													75.0	77.0	77.0					5																	38942960		2203	4300	6503	SO:0001587	stop_gained	0				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.5027T>G	5.37:g.38942960A>C	ENSP00000349959:p.Leu1676*			Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.L1700*	ENST00000357387.3	37	c.5099	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	A	45	11.855323	0.99610	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	.	.	.	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.3632	16.5205	0.84312	1.0:0.0:0.0:0.0	.	.	.	.	X	1676;1700	.	ENSP00000296782:L1700X	L	-	2	0	RICTOR	38978717	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.796000	0.91877	2.299000	0.77371	0.533000	0.62120	TTA	RICTOR	-	NULL	ENSG00000164327		0.333	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	-	0.00	82	0	A	NM_152756		38942960	-1	tier1	-	no_errors	ENST00000296782	ensembl	human	known	74_37	nonsense	14.29	54	9	SNP	1.000	C
ROCK1P1	727758	genome.wustl.edu	37	18	121145	121147	+	RNA	DEL	TTG	TTG	-	rs201987631|rs60788647|rs199838600		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	TTG	TTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr18:121145_121147delTTG	ENST00000608049.1	+	0	1383_1385					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		AACTGAAGTTTTGTTTTTTTTTT	0.355																																																	0																																												0					18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.121145_121147delTTG				RNA	DEL	-	NULL	ENST00000608049.1	37	NULL		18																																																																																			ROCK1P1	-	-	ENSG00000263006		0.355	ROCK1P1-003	KNOWN	basic	processed_transcript	ROCK1P1	HGNC	pseudogene	OTTHUMT00000472417.1		0.00	21	0	TTG			121147	+1	tier1		no_errors	ENST00000608049	ensembl	human	known	74_37	rna	21.05	15	4	DEL	0.605:0.625:0.630	-
S100A8	6279	genome.wustl.edu	37	1	153362902	153362902	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:153362902A>G	ENST00000368733.3	-	2	279	c.110T>C	c.(109-111)tTg>tCg	p.L37S	S100A8_ENST00000368732.1_Missense_Mutation_p.L37S|S100A8_ENST00000477801.1_5'UTR	NM_002964.4	NP_002955.2	P05109	S10A8_HUMAN	S100 calcium binding protein A8	37	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|acute inflammatory response (GO:0002526)|autophagy (GO:0006914)|chemokine production (GO:0032602)|chronic inflammatory response (GO:0002544)|cytokine production (GO:0001816)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|neutrophil aggregation (GO:0070488)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell growth (GO:0030307)|positive regulation of inflammatory response (GO:0050729)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|regulation of cytoskeleton organization (GO:0051493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to zinc ion (GO:0010043)|sequestering of zinc ion (GO:0032119)|wound healing (GO:0042060)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonic acid binding (GO:0050544)|calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|RAGE receptor binding (GO:0050786)|Toll-like receptor 4 binding (GO:0035662)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGTCTCTAGCAATTTCTTCAG	0.572																																																	0													148.0	149.0	149.0					1																	153362902		2203	4300	6503	SO:0001583	missense	0			BC005928	CCDS1038.1	1q12-q22	2013-01-10	2006-09-11		ENSG00000143546	ENSG00000143546		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10498	protein-coding gene	gene with protein product		123885	"""S100 calcium-binding protein A8 (calgranulin A)"", ""S100 calcium binding protein A8 (calgranulin A)"""	CAGA, CFAG			Standard	NM_002964		Approved	P8, MRP8, 60B8AG, CGLA	uc001fbs.3	P05109	OTTHUMG00000013124	ENST00000368733.3:c.110T>C	1.37:g.153362902A>G	ENSP00000357722:p.Leu37Ser		A8K5L3|D3DV37|Q5SY70|Q9UC84|Q9UC92|Q9UCJ0|Q9UCM6	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.L37S	ENST00000368733.3	37	c.110	CCDS1038.1	1	.	.	.	.	.	.	.	.	.	.	.	15.91	2.971957	0.53614	.	.	ENSG00000143546	ENST00000368733;ENST00000368732	T;T	0.36340	1.26;1.26	4.17	4.17	0.49024	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.071699	0.64402	D	0.000020	T	0.44244	0.1284	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.25606	-1.0127	9	0.87932	D	0	.	9.9034	0.41362	1.0:0.0:0.0:0.0	.	37	P05109	S10A8_HUMAN	S	37	ENSP00000357722:L37S;ENSP00000357721:L37S	ENSP00000357721:L37S	L	-	2	0	S100A8	151629526	0.025000	0.19082	0.021000	0.16686	0.076000	0.17211	3.950000	0.56676	2.121000	0.65114	0.528000	0.53228	TTG	S100A8	-	pfam_S100_Ca-bd_sub	ENSG00000143546		0.572	S100A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100A8	HGNC	protein_coding	OTTHUMT00000036791.1	-	0.00	51	0	A	NM_002964		153362902	-1	tier1	-	no_errors	ENST00000368732	ensembl	human	known	74_37	missense	21.74	18	5	SNP	0.023	G
RYR2	6262	genome.wustl.edu	37	1	237811850	237811850	+	Silent	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:237811850C>T	ENST00000366574.2	+	49	7766	c.7449C>T	c.(7447-7449)ttC>ttT	p.F2483F	RYR2_ENST00000542537.1_Silent_p.F2467F|RYR2_ENST00000360064.6_Silent_p.F2481F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2483	4 X approximate repeats.				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)			TTCAAGACTTCCTCCTCCATC	0.512																																																	0													109.0	99.0	102.0					1																	237811850		1932	4137	6069	SO:0001819	synonymous_variant	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.7449C>T	1.37:g.237811850C>T			Q15411|Q546N8|Q5T3P2	Silent	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.F2481	ENST00000366574.2	37	c.7443	CCDS55691.1	1																																																																																			RYR2	-	NULL	ENSG00000198626		0.512	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2		0.00	87	0	C	NM_001035		237811850	+1			no_errors	ENST00000360064	ensembl	human	known	74_37	silent	10.00	27	3	SNP	1.000	T
SCN7A	6332	genome.wustl.edu	37	2	167327160	167327160	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:167327160G>T	ENST00000409855.1	-	6	755	c.629C>A	c.(628-630)aCt>aAt	p.T210N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	210					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)	p.T210S(2)		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)	AATTCTCAAAGTTCTTGCAGT	0.299																																																	2	Substitution - Missense(2)	lung(2)											38.0	38.0	38.0					2																	167327160		1802	4061	5863	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.629C>A	2.37:g.167327160G>T	ENSP00000386796:p.Thr210Asn			Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu	p.T210N	ENST00000409855.1	37	c.629	CCDS46442.1	2	.	.	.	.	.	.	.	.	.	.	G	16.65	3.181244	0.57800	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	D;D;D	0.98617	-5.03;-5.03;-5.03	4.62	-2.23	0.06930	Ion transport (1);	0.478571	0.19535	N	0.111945	D	0.93119	0.7809	N	0.17474	0.49	0.22412	N	0.99913	B	0.10296	0.003	B	0.16289	0.015	D	0.86533	0.1823	10	0.48119	T	0.1	.	1.1164	0.01715	0.2834:0.3621:0.1665:0.188	.	210	Q01118	SCN7A_HUMAN	N	210	ENSP00000386796:T210N;ENSP00000413699:T210N;ENSP00000403846:T210N	ENSP00000259060:T210N	T	-	2	0	SCN7A	167035406	1.000000	0.71417	0.837000	0.33122	0.910000	0.53928	2.437000	0.44828	-0.304000	0.08843	0.563000	0.77884	ACT	SCN7A	-	pfam_Ion_trans_dom	ENSG00000136546		0.299	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN7A	HGNC	protein_coding	OTTHUMT00000333745.1		0.00	83	0	G			167327160	-1			no_errors	ENST00000409855	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.535	T
SGK494	124923	genome.wustl.edu	37	17	26938412	26938412	+	Splice_Site	DEL	T	T	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:26938412delT	ENST00000301037.5	-	10	898	c.899delA	c.(898-900)aag>ag	p.K300fs	SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.6_ENST00000579019.2_RNA|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000414744.1_RNA|SGK494_ENST00000469832.3_5'Flank|RP11-192H23.4_ENST00000534850.1_3'UTR	NM_001174103.1	NP_001167574.1	Q96LW2	SG494_HUMAN		0							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TTCTCTCACCTTTCCAGTCGC	0.483																																																	0																																										SO:0001630	splice_region_variant	0																														ENST00000301037.5:c.900+1A>-	17.37:g.26938412delT			B4DFP4|Q49A48	Frame_Shift_Del	DEL	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K300fs	ENST00000301037.5	37	c.899		17																																																																																			SGK494	-	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	ENSG00000167524		0.483	SGK494-017	KNOWN	basic|appris_principal	protein_coding	SGK494	Clone_based_vega_gene	protein_coding	OTTHUMT00000451486.1		0.00	51	0	T		Frame_Shift_Del	26938412	-1	tier1		no_errors	ENST00000301037	ensembl	human	known	74_37	frame_shift_del	11.76	15	2	DEL	1.000	-
SGOL2	151246	genome.wustl.edu	37	2	201437233	201437233	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:201437233A>T	ENST00000357799.4	+	7	2262	c.2164A>T	c.(2164-2166)Ata>Tta	p.I722L		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	722					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GAAGACAGAAATAATTTCTGA	0.333																																																	0													50.0	45.0	47.0					2																	201437233		1815	4065	5880	SO:0001583	missense	0			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.2164A>T	2.37:g.201437233A>T	ENSP00000350447:p.Ile722Leu		Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	NULL	p.I722L	ENST00000357799.4	37	c.2164	CCDS42796.1	2	.	.	.	.	.	.	.	.	.	.	A	13.41	2.228771	0.39399	.	.	ENSG00000163535	ENST00000357799	T	0.11821	2.74	5.0	2.65	0.31530	.	0.537641	0.17185	N	0.183738	T	0.11067	0.0270	L	0.41961	1.31	0.80722	D	1	P;P;P	0.43287	0.802;0.802;0.802	B;B;B	0.38428	0.273;0.273;0.273	T	0.09997	-1.0649	10	0.44086	T	0.13	-1.8496	7.5527	0.27806	0.8257:0.0:0.1743:0.0	.	722;722;722	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	L	722	ENSP00000350447:I722L	ENSP00000350447:I722L	I	+	1	0	SGOL2	201145478	0.901000	0.30685	0.997000	0.53966	0.983000	0.72400	0.191000	0.17076	0.494000	0.27859	0.477000	0.44152	ATA	SGOL2	-	NULL	ENSG00000163535		0.333	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	HGNC	protein_coding	OTTHUMT00000335834.1	-	0.00	45	0	A	NM_152524		201437233	+1	tier1	-	no_errors	ENST00000357799	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.957	T
SI	6476	genome.wustl.edu	37	3	164700808	164700808	+	Silent	SNP	T	T	C	rs547324596		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:164700808T>C	ENST00000264382.3	-	46	5291	c.5229A>G	c.(5227-5229)gtA>gtG	p.V1743V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1743	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	AATTAAATTGTACAGATAAAT	0.323										HNSCC(35;0.089)																																							0													37.0	43.0	41.0					3																	164700808		2197	4299	6496	SO:0001819	synonymous_variant	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.5229A>G	3.37:g.164700808T>C			A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.V1743	ENST00000264382.3	37	c.5229	CCDS3196.1	3																																																																																			SI	-	NULL	ENSG00000090402		0.323	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0.00	64	0	T	NM_001041		164700808	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	silent	22.22	28	8	SNP	0.514	C
SI	6476	genome.wustl.edu	37	3	164709998	164709998	+	Silent	SNP	G	G	A	rs370336977		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:164709998G>A	ENST00000264382.3	-	43	5012	c.4950C>T	c.(4948-4950)taC>taT	p.Y1650Y		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1650	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CATTGGGGACGTAGGCATTTA	0.353										HNSCC(35;0.089)																																							0													138.0	145.0	142.0					3																	164709998		2203	4300	6503	SO:0001819	synonymous_variant	0			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4950C>T	3.37:g.164709998G>A			A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil	p.Y1650	ENST00000264382.3	37	c.4950	CCDS3196.1	3																																																																																			SI	-	pfam_Glyco_hydro_31	ENSG00000090402		0.353	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	-	0.00	68	0	G	NM_001041		164709998	-1	tier1	-	no_errors	ENST00000264382	ensembl	human	known	74_37	silent	27.59	21	8	SNP	0.141	A
SLC12A5	57468	genome.wustl.edu	37	20	44673759	44673759	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr20:44673759delG	ENST00000454036.2	+	12	1667	c.1618delG	c.(1618-1620)ggcfs	p.G540fs	SLC12A5_ENST00000243964.3_Frame_Shift_Del_p.G517fs	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	540					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTCGAGGGATGGCATTGTGCC	0.632																																																	0													65.0	64.0	64.0					20																	44673759		2203	4300	6503	SO:0001589	frameshift_variant	0			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1618delG	20.37:g.44673759delG	ENSP00000387694:p.Gly540fs		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Frame_Shift_Del	DEL	pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.G540fs	ENST00000454036.2	37	c.1618	CCDS46610.1	20																																																																																			SLC12A5	-	pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS	ENSG00000124140		0.632	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	HGNC	protein_coding	OTTHUMT00000471538.1		0.00	40	0	G			44673759	+1	tier1		no_errors	ENST00000454036	ensembl	human	known	74_37	frame_shift_del	14.29	12	2	DEL	1.000	-
SLC6A12	6539	genome.wustl.edu	37	12	306657	306657	+	Missense_Mutation	SNP	C	C	T	rs373249721		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:306657C>T	ENST00000428720.1	-	10	1704	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	SLC6A12_ENST00000424061.2_Missense_Mutation_p.A321T|SLC6A12_ENST00000359674.4_Missense_Mutation_p.A321T|SLC6A12_ENST00000538272.1_5'Flank|SLC6A12_ENST00000397296.2_Missense_Mutation_p.A321T|SLC6A12_ENST00000536824.1_Missense_Mutation_p.A321T	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	321					amino acid transport (GO:0006865)|cellular hyperosmotic response (GO:0071474)|cellular water homeostasis (GO:0009992)|ion transport (GO:0006811)|neurotransmitter secretion (GO:0007269)|response to organic substance (GO:0010033)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter:sodium symporter activity (GO:0005328)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AAGCAGAGGGCGATGCAGTCC	0.557																																																	0								C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	1,4405	2.1+/-5.4	0,1,2202	67.0	55.0	59.0		961,961,961,961	4.4	1.0	12		59	0,8600		0,0,4300	no	missense,missense,missense,missense	SLC6A12	NM_001122847.2,NM_001122848.2,NM_001206931.1,NM_003044.4	58,58,58,58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	321/615,321/615,321/615,321/615	306657	1,13005	2203	4300	6503	SO:0001583	missense	0			L42300	CCDS8501.1	12p13	2013-07-19	2013-07-19		ENSG00000111181	ENSG00000111181		"""Solute carriers"""	11045	protein-coding gene	gene with protein product	"""betaine/GABA transporter-1"""	603080	"""solute carrier family 6 (neurotransmitter transporter, betaine/GABA), member 12"""			7589472	Standard	NM_003044		Approved	BGT-1	uc009zdh.2	P48065	OTTHUMG00000090309	ENST00000428720.1:c.961G>A	12.37:g.306657C>T	ENSP00000388184:p.Ala321Thr		A0AV52|B2R992|D3DUN8	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_betaine	p.A321T	ENST00000428720.1	37	c.961	CCDS8501.1	12	.	.	.	.	.	.	.	.	.	.	C	15.28	2.787231	0.49997	2.27E-4	0.0	ENSG00000111181	ENST00000359674;ENST00000397296;ENST00000428720;ENST00000424061;ENST00000536824	T;T;T;T;T	0.74526	-0.85;-0.85;-0.85;-0.85;-0.85	4.44	4.44	0.53790	.	0.287190	0.31177	N	0.008114	T	0.71187	0.3310	L	0.35723	1.085	0.37765	D	0.926465	P	0.49783	0.928	P	0.52627	0.704	T	0.74115	-0.3769	10	0.48119	T	0.1	.	8.5343	0.33353	0.0:0.8576:0.0:0.1424	.	321	P48065	S6A12_HUMAN	T	321	ENSP00000352702:A321T;ENSP00000380464:A321T;ENSP00000388184:A321T;ENSP00000399136:A321T;ENSP00000444268:A321T	ENSP00000352702:A321T	A	-	1	0	SLC6A12	176918	0.990000	0.36364	1.000000	0.80357	0.976000	0.68499	1.129000	0.31381	2.299000	0.77371	0.655000	0.94253	GCC	SLC6A12	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	ENSG00000111181		0.557	SLC6A12-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A12	HGNC	protein_coding	OTTHUMT00000206671.2	-	0.00	46	0	C	NM_003044		306657	-1	tier1	-	no_errors	ENST00000359674	ensembl	human	known	74_37	missense	15.62	27	5	SNP	0.936	T
SLC7A6OS	84138	genome.wustl.edu	37	16	68331203	68331203	+	IGR	DEL	A	A	-	rs370195278		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr16:68331203delA	ENST00000263997.6	-	0	4189				SLC7A6_ENST00000219343.6_Frame_Shift_Del_p.E507fs|SLC7A6_ENST00000566454.1_Frame_Shift_Del_p.E507fs	NM_032178.2	NP_115554.2	Q96CW6	S7A6O_HUMAN	solute carrier family 7, member 6 opposite strand						hematopoietic progenitor cell differentiation (GO:0002244)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106)		GTAGCCGAAGAAAAAAAGGAT	0.478																																																	0													88.0	84.0	86.0					16																	68331203		2198	4300	6498	SO:0001628	intergenic_variant	0				CCDS10865.1	16q22.1	2010-03-11			ENSG00000103061	ENSG00000103061			25807	protein-coding gene	gene with protein product							Standard	NM_032178		Approved	FLJ13291	uc002evw.2	Q96CW6	OTTHUMG00000137558		16.37:g.68331203delA			Q8TCZ3|Q9H8R8	Frame_Shift_Del	DEL	pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1	p.K509fs	ENST00000263997.6	37	c.1520	CCDS10865.1	16																																																																																			SLC7A6	-	NULL	ENSG00000103064		0.478	SLC7A6OS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A6	HGNC	protein_coding	OTTHUMT00000268894.3		0.00	62	0	A	NM_032178		68331203	+1	tier1		no_errors	ENST00000219343	ensembl	human	known	74_37	frame_shift_del	9.09	30	3	DEL	0.821	-
SMTN	6525	genome.wustl.edu	37	22	31489516	31489516	+	Intron	SNP	C	C	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr22:31489516C>A	ENST00000347557.2	+	11	1850				SMTN_ENST00000333137.7_Intron|SMTN_ENST00000358743.1_Intron|SMTN_ENST00000404574.1_Missense_Mutation_p.A28E	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin						muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GAGCTGCGGGCGGTGGCTGAA	0.716																																																	0													4.0	4.0	4.0					22																	31489516		823	1887	2710	SO:0001627	intron_variant	0			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1632+1683C>A	22.37:g.31489516C>A			O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	pfam_CH-domain,pfam_Smoothelin,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.A28E	ENST00000347557.2	37	c.83	CCDS13886.1	22	.	.	.	.	.	.	.	.	.	.	C	13.83	2.352743	0.41700	.	.	ENSG00000183963	ENST00000404574	D	0.95171	-3.63	4.78	3.64	0.41730	.	.	.	.	.	D	0.88955	0.6578	.	.	.	0.09310	N	0.999999	B	0.20671	0.047	B	0.20577	0.03	T	0.78947	-0.2003	8	0.40728	T	0.16	.	6.7535	0.23499	0.2231:0.5459:0.2309:0.0	.	28	B5MCI0	.	E	28	ENSP00000383919:A28E	ENSP00000383919:A28E	A	+	2	0	SMTN	29819516	0.001000	0.12720	0.630000	0.29268	0.712000	0.41017	-0.302000	0.08221	2.387000	0.81309	0.462000	0.41574	GCG	SMTN	-	NULL	ENSG00000183963		0.716	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	HGNC	protein_coding	OTTHUMT00000321766.1	-	0.00	41	0	C	NM_134270		31489516	+1	tier1	-	no_errors	ENST00000404574	ensembl	human	putative	74_37	missense	22.58	24	7	SNP	0.003	A
SNCG	6623	genome.wustl.edu	37	10	88722801	88722801	+	3'UTR	SNP	C	C	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr10:88722801C>A	ENST00000372017.3	+	0	485				ADIRF-AS1_ENST00000440490.1_RNA|ADIRF-AS1_ENST00000609111.1_RNA|SNCG_ENST00000483064.1_3'UTR|SNCG_ENST00000348795.4_3'UTR|ADIRF-AS1_ENST00000418273.2_RNA	NM_003087.2	NP_003078.2	O76070	SYUG_HUMAN	synuclein, gamma (breast cancer-specific protein 1)						adult locomotory behavior (GO:0008344)|aggressive behavior (GO:0002118)|cellular response to hydrostatic pressure (GO:0071464)|protein secretion (GO:0009306)|regulation of dopamine secretion (GO:0014059)|regulation of neurotransmitter secretion (GO:0046928)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)				endometrium(1)|skin(1)	2						GACACCATCCCCTCCTAGCAC	0.647																																																	0													96.0	99.0	98.0					10																	88722801		692	1591	2283	SO:0001624	3_prime_UTR_variant	0			AF044311	CCDS7380.1	10q23.2-q23.3	2006-06-28			ENSG00000173267	ENSG00000173267			11141	protein-coding gene	gene with protein product	"""synoretin"""	602998				9044857, 9700196	Standard	NM_003087		Approved	BCSG1, SR, persyn	uc001keb.2	O76070	OTTHUMG00000018656	ENST00000372017.3:c.*59C>A	10.37:g.88722801C>A			O15104|Q96P61	RNA	SNP	-	NULL	ENST00000372017.3	37	NULL	CCDS7380.1	10																																																																																			SNCG	-	-	ENSG00000173267		0.647	SNCG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNCG	HGNC	protein_coding	OTTHUMT00000049167.1	-	0.00	41	0	C			88722801	+1	tier1	-	no_errors	ENST00000483064	ensembl	human	known	74_37	rna	33.33	12	6	SNP	0.000	A
SNHG1	23642	genome.wustl.edu	37	11	62620423	62620423	+	RNA	DEL	C	C	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:62620423delC	ENST00000384756.1	-	0	84				SNHG1_ENST00000384706.1_RNA|SNHG1_ENST00000364799.1_RNA|SNHG1_ENST00000383926.1_RNA|SNHG1_ENST00000363981.1_RNA|SNHG1_ENST00000365607.1_RNA|SNHG1_ENST00000384693.1_RNA|SNHG1_ENST00000384147.1_RNA|SNHG1_ENST00000516331.1_RNA	NR_000008.2				small nucleolar RNA host gene 1 (non-protein coding)																		TTCCTCTTCTCCCCCAGCCAG	0.423																																																	0													122.0	108.0	113.0					11																	62620423		874	1990	2864			0			L36588		11q12.3	2013-07-02	2008-08-14		ENSG00000255717	ENSG00000255717		"""Long non-coding RNAs"", ""-"""	32688	non-coding RNA	RNA, long non-coding	"""U22 snoRNA host gene"", ""non-protein coding RNA 57"", ""long intergenic non-protein coding RNA 57"""	603222				8559254, 23801869	Standard	NR_003098		Approved	UHG, NCRNA00057, LINC00057	uc001nvt.3		OTTHUMG00000167743		11.37:g.62620423delC				RNA	DEL	-	NULL	ENST00000384756.1	37	NULL		11																																																																																			SNHG1	-	-	ENSG00000255717		0.423	SNHG1-208	KNOWN	basic	snoRNA	SNHG1	HGNC	processed_transcript			0.00	43	0	C	NR_003098		62620423	-1	tier1		no_errors	ENST00000384756	ensembl	human	known	74_37	rna	5.41	35	2	DEL	0.992	-
SOX11	6664	genome.wustl.edu	37	2	5833526	5833528	+	In_Frame_Del	DEL	GAC	GAC	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	GAC	GAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:5833526_5833528delGAC	ENST00000322002.3	+	1	728_730	c.673_675delGAC	c.(673-675)gacdel	p.D233del	AC108025.2_ENST00000453678.1_RNA|AC010729.1_ENST00000455579.2_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000420221.1_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	233	Poly-Asp.				cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		TCTGGATGAGgacgacgacgacg	0.7																																																	0										5,289,3358		0,0,5,14,261,1546						-1.6	1.0			10	5,655,6658		0,0,5,23,609,3022	no	codingComplex	SOX11	NM_003108.3		0,0,10,37,870,4568	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0189,8.0504,8.6964				10,944,10016				SO:0001651	inframe_deletion	0				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.673_675delGAC	2.37:g.5833535_5833537delGAC	ENSP00000322568:p.Asp233del		Q4ZFV8	In_Frame_Del	DEL	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.D228in_frame_del	ENST00000322002.3	37	c.673_675	CCDS1654.1	2																																																																																			SOX11	-	pirsf_SOX-12/11/4a	ENSG00000176887		0.700	SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX11	HGNC	protein_coding	OTTHUMT00000206698.1		0.00	26	0	GAC	NM_003108		5833528	+1	tier1		no_errors	ENST00000322002	ensembl	human	known	74_37	in_frame_del	28.57	10	4	DEL	1.000:1.000:0.999	-
SOX12	6666	genome.wustl.edu	37	20	307342	307343	+	Frame_Shift_Ins	INS	-	-	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr20:307342_307343insC	ENST00000342665.2	+	1	1104_1105	c.774_775insC	c.(775-777)cccfs	p.P259fs	RP5-1103G7.4_ENST00000442637.1_RNA|RP5-1103G7.4_ENST00000414676.1_RNA|SOX12_ENST00000544632.1_Frame_Shift_Ins_p.P259fs	NM_006943.2	NP_008874.2	O15370	SOX12_HUMAN	SRY (sex determining region Y)-box 12	259					cell fate commitment (GO:0045165)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spinal cord development (GO:0021510)	nucleus (GO:0005634)|protein-DNA complex (GO:0032993)	DNA binding (GO:0003677)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		all_cancers(10;0.000331)|Lung NSC(37;0.0496)|all_lung(30;0.0831)|all_epithelial(17;0.0868)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			TGTCCAGGCTGCCCCCTGGCCC	0.703																																																	0																																										SO:0001589	frameshift_variant	0			U35612	CCDS12995.1	20p13	2008-07-28	2002-07-22	2002-07-26	ENSG00000177732	ENSG00000177732		"""SRY (sex determining region Y)-boxes"""	11198	protein-coding gene	gene with protein product		601947	"""SRY (sex determining region Y)-box 22"""	SOX22		9215677	Standard	NM_006943		Approved		uc002wdh.4	O15370	OTTHUMG00000031623	ENST00000342665.2:c.779dupC	20.37:g.307347_307347dupC	ENSP00000347646:p.Pro259fs		Q5D038|Q9NUD4	Frame_Shift_Ins	INS	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom	p.G260fs	ENST00000342665.2	37	c.774_775	CCDS12995.1	20																																																																																			SOX12	-	pirsf_SOX-12/11/4a	ENSG00000177732		0.703	SOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX12	HGNC	protein_coding	OTTHUMT00000077435.2		0.00	30	0	-	NM_006943		307343	+1	tier1		no_errors	ENST00000342665	ensembl	human	known	74_37	frame_shift_ins	25.00	6	2	INS	0.997:1.000	C
SPTY2D1-AS1	100506540	genome.wustl.edu	37	11	18621528	18621528	+	RNA	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:18621528C>T	ENST00000541939.1	-	0	0				SPTY2D1-AS1_ENST00000511927.2_RNA|SPTY2D1-AS1_ENST00000501599.2_RNA																							TACATGGGCACGTTTCCAGAG	0.433																																																	0																																												0																															11.37:g.18621528C>T				RNA	SNP	-	NULL	ENST00000541939.1	37	NULL		11																																																																																			SPTY2D1-AS1	-	-	ENSG00000247595		0.433	RP11-504G3.4-003	PUTATIVE	basic|exp_conf	processed_transcript	SPTY2D1-AS1	HGNC	pseudogene	OTTHUMT00000395934.1	-	0.00	84	0	C			18621528	+1	tier1	-	no_errors	ENST00000501599	ensembl	human	known	74_37	rna	42.25	40	30	SNP	0.963	T
STX10	8677	genome.wustl.edu	37	19	13255457	13255457	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:13255457C>A	ENST00000587230.1	-	7	671	c.607G>T	c.(607-609)Gac>Tac	p.D203Y	STX10_ENST00000343587.5_Missense_Mutation_p.D154Y|STX10_ENST00000242770.5_Missense_Mutation_p.W201C|STX10_ENST00000589083.1_Missense_Mutation_p.D203Y	NM_001271609.1	NP_001258538.1	O60499	STX10_HUMAN	syntaxin 10	203	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.				Golgi vesicle transport (GO:0048193)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to Golgi (GO:0042147)|vesicle fusion (GO:0006906)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)	6			OV - Ovarian serous cystadenocarcinoma(19;3.41e-21)			TGGGTGTGGTCCATCTCTTGG	0.632																																																	0													91.0	79.0	83.0					19																	13255457		2203	4300	6503	SO:0001583	missense	0			AF035531	CCDS32922.1, CCDS62569.1, CCDS62570.1, CCDS62571.1	19p13.13	2008-07-22				ENSG00000104915			11428	protein-coding gene	gene with protein product		603765				9446797	Standard	NM_003765		Approved	hsyn10, SYN10	uc021upq.2	O60499		ENST00000587230.1:c.607G>T	19.37:g.13255457C>A	ENSP00000466298:p.Asp203Tyr		A6NC41|Q6IAP4|Q96AE8	Missense_Mutation	SNP	pfam_Syntaxin-6_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.D203Y	ENST00000587230.1	37	c.607	CCDS32922.1	19	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577861	0.65878	.	.	ENSG00000104915	ENST00000343587;ENST00000242770;ENST00000440593	.	.	.	4.3	4.3	0.51218	Target SNARE coiled-coil domain (3);	0.222293	0.33110	N	0.005277	D	0.84763	0.5544	M	0.92923	3.36	0.58432	D	0.999997	D;D	0.89917	0.997;1.0	D;D	0.72982	0.935;0.979	D	0.88727	0.3234	9	0.87932	D	0	.	14.2836	0.66228	0.0:1.0:0.0:0.0	.	154;203	O60499-2;O60499	.;STX10_HUMAN	Y	154;203;203	.	ENSP00000242770:D203Y	D	-	1	0	STX10	13116457	1.000000	0.71417	0.988000	0.46212	0.861000	0.49209	4.186000	0.58337	2.208000	0.71279	0.462000	0.41574	GAC	STX10	-	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom	ENSG00000104915		0.632	STX10-002	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	STX10	HGNC	protein_coding	OTTHUMT00000452918.1	-	0.00	25	0	C	NM_003765		13255457	-1	tier1	-	no_errors	ENST00000587230	ensembl	human	known	74_37	missense	27.78	13	5	SNP	1.000	A
SYTL3	94120	genome.wustl.edu	37	6	159086477	159086477	+	Missense_Mutation	SNP	C	C	T	rs144600059		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr6:159086477C>T	ENST00000297239.9	+	4	355	c.161C>T	c.(160-162)aCg>aTg	p.T54M	SYTL3_ENST00000367081.3_5'UTR|SYTL3_ENST00000360448.3_Missense_Mutation_p.T54M			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	54	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)	membrane (GO:0016020)	calcium-dependent phospholipid binding (GO:0005544)	p.T54M(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		GCGAAGAACACGGACTGGGAG	0.597																																																	1	Substitution - Missense(1)	pancreas(1)						C	MET/THR,MET/THR,MET/THR,MET/THR	0,4406		0,0,2203	35.0	32.0	33.0		161,161,161,161	0.7	0.0	6	dbSNP_134	33	2,8596	1.2+/-3.3	0,2,4297	no	missense,missense,missense,missense	SYTL3	NM_001009991.3,NM_001242384.1,NM_001242394.1,NM_001242395.1	81,81,81,81	0,2,6500	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	54/543,54/611,54/611,54/543	159086477	2,13002	2203	4299	6502	SO:0001583	missense	0			AK055750	CCDS34563.1, CCDS56458.1	6q25.3	2008-07-04			ENSG00000164674	ENSG00000164674			15587	protein-coding gene	gene with protein product						11773082	Standard	NM_001242384		Approved	SLP3, exophilin-6	uc003qrp.3	Q4VX76	OTTHUMG00000015916	ENST00000297239.9:c.161C>T	6.37:g.159086477C>T	ENSP00000297239:p.Thr54Met		Q496J4|Q496J6|Q5U3B9	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ	p.T54M	ENST00000297239.9	37	c.161	CCDS56458.1	6	.	.	.	.	.	.	.	.	.	.	C	7.289	0.610730	0.14066	0.0	2.33E-4	ENSG00000164674	ENST00000360448;ENST00000543689;ENST00000297239	T;T	0.77229	-1.08;-1.08	5.8	0.657	0.17850	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	1.423770	0.03936	N	0.286136	T	0.64046	0.2563	L	0.51422	1.61	0.09310	N	0.999993	D;D	0.60575	0.965;0.988	B;P	0.48815	0.28;0.591	T	0.53767	-0.8392	10	0.56958	D	0.05	-17.9869	7.3602	0.26742	0.0:0.5576:0.1093:0.333	.	54;54	Q4VX76;Q4VX76-2	SYTL3_HUMAN;.	M	54	ENSP00000353631:T54M;ENSP00000297239:T54M	ENSP00000297239:T54M	T	+	2	0	SYTL3	159006465	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.057000	0.14279	-0.177000	0.10690	0.561000	0.74099	ACG	SYTL3	-	superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ	ENSG00000164674		0.597	SYTL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYTL3	HGNC	protein_coding	OTTHUMT00000042876.1		0.00	38	0	C			159086477	+1			no_errors	ENST00000297239	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.000	T
TECTA	7007	genome.wustl.edu	37	11	121016684	121016684	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:121016684delT	ENST00000392793.1	+	12	4235	c.3964delT	c.(3964-3966)ttcfs	p.F1323fs	TECTA_ENST00000264037.2_Frame_Shift_Del_p.F1323fs|TECTA_ENST00000478058.1_3'UTR			O75443	TECTA_HUMAN	tectorin alpha	1323					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)		TAACCCCACCTTCTTCTATAA	0.562																																																	0													113.0	105.0	108.0					11																	121016684		2203	4299	6502	SO:0001589	frameshift_variant	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.3964delT	11.37:g.121016684delT	ENSP00000376543:p.Phe1323fs			Frame_Shift_Del	DEL	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.F1322fs	ENST00000392793.1	37	c.3964	CCDS8434.1	11																																																																																			TECTA	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich	ENSG00000109927		0.562	TECTA-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TECTA	HGNC	protein_coding	OTTHUMT00000313850.1		0.00	48	0	T	NM_005422		121016684	+1	tier1		no_errors	ENST00000264037	ensembl	human	known	74_37	frame_shift_del	15.38	11	2	DEL	0.990	-
TERT	7015	genome.wustl.edu	37	5	1279450	1279450	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr5:1279450G>A	ENST00000310581.5	-	5	2143	c.2086C>T	c.(2086-2088)Cgt>Tgt	p.R696C	TERT_ENST00000508104.2_Missense_Mutation_p.R696C|TERT_ENST00000334602.6_Missense_Mutation_p.R696C|TERT_ENST00000296820.5_Missense_Mutation_p.R696C	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	696	Reverse transcriptase. {ECO:0000255|PROSITE-ProRule:PRU00405}.				DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	GCCCGCACACGCAGCACGAAG	0.711									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																																								0													8.0	10.0	9.0					5																	1279450		2158	4259	6417	SO:0001583	missense	0	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.2086C>T	5.37:g.1279450G>A	ENSP00000309572:p.Arg696Cys		O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	pfam_Telomerase_RBD,pfam_RVT,smart_Telomerase_RBD,pfscan_RVT,prints_Telomerase_RT	p.R696C	ENST00000310581.5	37	c.2086	CCDS3861.2	5	.	.	.	.	.	.	.	.	.	.	G	10.05	1.245464	0.22796	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.98178	-4.77;-4.19;-4.77;-4.19	4.67	3.7	0.42460	Reverse transcriptase (1);	0.860550	0.10438	N	0.674708	D	0.98516	0.9505	M	0.77820	2.39	0.39218	D	0.963447	D;D;D	0.76494	0.998;0.999;0.997	P;D;P	0.65874	0.738;0.939;0.551	D	0.97830	1.0262	10	0.56958	D	0.05	-15.7503	8.4436	0.32828	0.0:0.0:0.7015:0.2985	.	696;696;696	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	C	696	ENSP00000309572:R696C;ENSP00000296820:R696C;ENSP00000334346:R696C;ENSP00000426042:R696C	ENSP00000296820:R696C	R	-	1	0	TERT	1332450	0.900000	0.30661	0.317000	0.25265	0.074000	0.17049	2.306000	0.43673	2.149000	0.67028	0.313000	0.20887	CGT	TERT	-	pfscan_RVT	ENSG00000164362		0.711	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TERT	HGNC	protein_coding	OTTHUMT00000206729.2	-	0.00	57	0	G			1279450	-1	tier1	-	no_errors	ENST00000310581	ensembl	human	known	74_37	missense	22.86	27	8	SNP	0.732	A
TFCP2	7024	genome.wustl.edu	37	12	51512514	51512514	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:51512514C>T	ENST00000257915.5	-	2	622	c.164G>A	c.(163-165)aGt>aAt	p.S55N	TFCP2_ENST00000548115.1_Missense_Mutation_p.S55N|TFCP2_ENST00000307660.4_Missense_Mutation_p.S55N|TFCP2_ENST00000549867.1_Missense_Mutation_p.S55N	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	55					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S55N(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						AGGAGGCAAACTCGACTCTTC	0.393																																																	1	Substitution - Missense(1)	lung(1)											181.0	173.0	176.0					12																	51512514		2203	4300	6503	SO:0001583	missense	0			U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.164G>A	12.37:g.51512514C>T	ENSP00000257915:p.Ser55Asn		A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	pfam_CP2,superfamily_SAM/pointed	p.S55N	ENST00000257915.5	37	c.164	CCDS8808.1	12	.	.	.	.	.	.	.	.	.	.	C	14.09	2.431046	0.43122	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115	T;T;T;T	0.46819	2.2;0.86;2.19;0.86	5.66	1.49	0.22878	CP2 transcription factor (1);	0.091976	0.85682	D	0.000000	T	0.34279	0.0892	L	0.50333	1.59	0.33061	D	0.534063	B;B;B;B	0.20887	0.0;0.049;0.0;0.0	B;B;B;B	0.18263	0.001;0.021;0.005;0.003	T	0.26573	-1.0099	10	0.40728	T	0.16	-11.6969	3.3937	0.07298	0.1299:0.4746:0.2522:0.1434	.	55;55;55;55	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	N	55	ENSP00000257915:S55N;ENSP00000304411:S55N;ENSP00000449742:S55N;ENSP00000447991:S55N	ENSP00000257915:S55N	S	-	2	0	TFCP2	49798781	0.025000	0.19082	1.000000	0.80357	0.988000	0.76386	0.341000	0.19909	0.408000	0.25621	0.591000	0.81541	AGT	TFCP2	-	NULL	ENSG00000135457		0.393	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFCP2	HGNC	protein_coding	OTTHUMT00000405119.1		0.00	84	0	C	NM_005653		51512514	-1			no_errors	ENST00000257915	ensembl	human	known	74_37	missense	5.56	34	2	SNP	0.997	T
TMEM131	23505	genome.wustl.edu	37	2	98418927	98418928	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:98418927_98418928insA	ENST00000186436.5	-	24	2842_2843	c.2614_2615insT	c.(2614-2616)tccfs	p.S872fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	872						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TGAAGGGTTGGAATATAAAGCC	0.312																																																	0																																										SO:0001589	frameshift_variant	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.2615dupT	2.37:g.98418929_98418929dupA	ENSP00000186436:p.Ser872fs			Frame_Shift_Ins	INS	pfam_DUF3651_TMEM131	p.S872fs	ENST00000186436.5	37	c.2615_2614	CCDS46368.1	2																																																																																			TMEM131	-	NULL	ENSG00000075568		0.312	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2		0.00	76	0	-	XM_371542		98418928	-1	tier1		no_errors	ENST00000186436	ensembl	human	known	74_37	frame_shift_ins	32.56	29	14	INS	1.000:1.000	A
TMPRSS6	164656	genome.wustl.edu	37	22	37470670	37470670	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr22:37470670C>T	ENST00000346753.3	-	12	1564	c.1448G>A	c.(1447-1449)gGc>gAc	p.G483D	TMPRSS6_ENST00000381792.2_Missense_Mutation_p.G474D|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.G474D|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.G474D	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	483	LDL-receptor class A 1. {ECO:0000255|PROSITE-ProRule:PRU00124}.				angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTCATCCAGGCCGTTGGGGCA	0.602																																																	0													104.0	92.0	96.0					22																	37470670		2203	4300	6503	SO:0001583	missense	0			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1448G>A	22.37:g.37470670C>T	ENSP00000334962:p.Gly483Asp		B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Missense_Mutation	SNP	pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1	p.G474D	ENST00000346753.3	37	c.1421	CCDS13941.1	22	.	.	.	.	.	.	.	.	.	.	C	18.15	3.560618	0.65538	.	.	ENSG00000187045	ENST00000381792;ENST00000346753;ENST00000406725;ENST00000406856	T;T;T;T	0.61627	0.09;0.09;0.09;0.09	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.68650	0.3024	M	0.85777	2.775	0.53005	D	0.999968	D;P	0.55172	0.97;0.949	P;P	0.51657	0.676;0.476	T	0.69778	-0.5053	10	0.30078	T	0.28	.	12.2138	0.54394	0.0:0.9213:0.0:0.0787	.	474;483	Q8IU80-5;Q8IU80	.;TMPS6_HUMAN	D	474;483;474;474	ENSP00000371211:G474D;ENSP00000334962:G483D;ENSP00000385453:G474D;ENSP00000384964:G474D	ENSP00000334962:G483D	G	-	2	0	TMPRSS6	35800616	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	4.164000	0.58190	2.443000	0.82685	0.462000	0.41574	GGC	TMPRSS6	-	pirsf_Pept_S1A_matriptase-2,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000187045		0.602	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	HGNC	protein_coding	OTTHUMT00000318822.1	-	0.00	33	0	C	NM_153609		37470670	-1	tier1	-	no_errors	ENST00000381792	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T
TNXB	7148	genome.wustl.edu	37	6	32014070	32014071	+	Missense_Mutation	DNP	GG	GG	CT			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr6:32014070_32014071GG>CT	ENST00000375244.3	-	31	10688_10689	c.10487_10488CC>AG	c.(10486-10488)gCC>gAG	p.A3496E	TNXB_ENST00000451343.1_5'Flank|TNXB_ENST00000375247.2_Missense_Mutation_p.A3494E			P22105	TENX_HUMAN	tenascin XB	3541	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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						GCTGGTCTGCGGCCACAGGCAC	0.644																																																	0																																										SO:0001583	missense	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	ENST00000375244.3:c.10487_10488delinsCT	6.37:g.32014070_32014071delinsCT	ENSP00000364393:p.Ala3496Glu		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Silent|Missense_Mutation	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.A3494|p.A3494D	ENST00000375244.3	37	c.10482|c.10481		6																																																																																			TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000168477		0.644	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	-	0.00	84	0	G	NM_019105		32014070|32014071	-1	tier1	-	no_errors	ENST00000375247	ensembl	human	known	74_37	silent|missense	33.33	28	14	SNP	0.071|0.245	C|T
TP53	7157	genome.wustl.edu	37	17	7577084	7577084	+	Missense_Mutation	SNP	T	T	A	rs121912667		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:7577084T>A	ENST00000269305.4	-	8	1043	c.854A>T	c.(853-855)gAg>gTg	p.E285V	TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.E285V|TP53_ENST00000359597.4_Missense_Mutation_p.E285V|TP53_ENST00000445888.2_Missense_Mutation_p.E285V|TP53_ENST00000420246.2_Missense_Mutation_p.E285V	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	285	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:1694291}.|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E285V(15)|p.0?(8)|p.E285G(5)|p.?(2)|p.E285A(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)	ATTCTCTTCCTCTGTGCGCCG	0.562		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"""	46	Substitution - Missense(22)|Deletion - Frameshift(8)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	liver(7)|upper_aerodigestive_tract(5)|lung(5)|soft_tissue(4)|central_nervous_system(4)|bone(4)|large_intestine(3)|stomach(3)|breast(3)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|biliary_tract(1)|salivary_gland(1)|skin(1)|ovary(1)	GRCh37	CM083790	TP53	M	rs121912667						92.0	79.0	83.0					17																	7577084		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.854A>T	17.37:g.7577084T>A	ENSP00000269305:p.Glu285Val		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E285V	ENST00000269305.4	37	c.854	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	23.0	4.367808	0.82463	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99825	-6.97;-6.97;-6.97;-6.97;-6.97;-6.97	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99792	0.9912	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.76494	0.999;0.994;0.999;0.999	D;D;D;D	0.85130	0.994;0.976;0.994;0.997	D	0.96880	0.9645	10	0.87932	D	0	-38.0538	12.6799	0.56916	0.0:0.0:0.0:1.0	.	285;285;285;285	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	285;285;285;285;285;274;153	ENSP00000352610:E285V;ENSP00000269305:E285V;ENSP00000398846:E285V;ENSP00000391127:E285V;ENSP00000391478:E285V;ENSP00000425104:E153V	ENSP00000269305:E285V	E	-	2	0	TP53	7517809	1.000000	0.71417	0.939000	0.37840	0.649000	0.38597	7.802000	0.85969	2.085000	0.62840	0.379000	0.24179	GAG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	52	0	T	NM_000546		7577084	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578290	7578290	+	Splice_Site	SNP	C	C	G			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:7578290C>G	ENST00000269305.4	-	6	749		c.e6-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	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						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.?(40)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)	GGGGCCAGACCTAAGAGCAAT	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	54	Unknown(40)|Whole gene deletion(8)|Deletion - Frameshift(3)|Deletion - In frame(2)|Insertion - Frameshift(1)	upper_aerodigestive_tract(11)|lung(9)|large_intestine(6)|central_nervous_system(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|bone(4)|liver(3)|oesophagus(2)|breast(2)|stomach(1)|genital_tract(1)|eye(1)	GRCh37	CD043957|CS011574|CS083991	TP53	D|S							82.0	74.0	76.0					17																	7578290		2203	4300	6503	SO:0001630	splice_region_variant	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.560-1G>C	17.37:g.7578290C>G			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	Splice_Site	SNP	-	e5-1	ENST00000269305.4	37	c.560-1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	8.588	0.883886	0.17467	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	4.67	4.67	0.58626	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.89	0.79291	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519015	1.000000	0.71417	0.995000	0.50966	0.031000	0.12232	3.449000	0.52950	2.539000	0.85634	0.655000	0.94253	.	TP53	-	-	ENSG00000141510		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	53	0	C	NM_000546	Intron	7578290	-1	tier1	-	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	19.23	21	5	SNP	1.000	G
TPCN1	53373	genome.wustl.edu	37	12	113704096	113704098	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:113704096_113704098delCTG	ENST00000335509.6	+	4	663_665	c.349_351delCTG	c.(349-351)ctgdel	p.L122del	TPCN1_ENST00000550785.1_In_Frame_Del_p.L194del|TPCN1_ENST00000392569.4_In_Frame_Del_p.L54del|TPCN1_ENST00000541517.1_In_Frame_Del_p.L194del	NM_017901.4	NP_060371.2	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	122					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|voltage-gated calcium channel activity (GO:0005245)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGCCACGGCCCTGCTGCTGCTGC	0.64																																																	0																																										SO:0001651	inframe_deletion	0			AB032995	CCDS31908.1, CCDS44985.1	12q24.21	2011-07-05			ENSG00000186815	ENSG00000186815		"""Voltage-gated ion channels / Two-pore channels"""	18182	protein-coding gene	gene with protein product		609666				10574461, 10753632, 16382101	Standard	XM_005253905		Approved	KIAA1169, FLJ20612, TPC1	uc001tux.3	Q9ULQ1	OTTHUMG00000169625	ENST00000335509.6:c.349_351delCTG	12.37:g.113704105_113704107delCTG	ENSP00000335300:p.Leu122del		A7E258|Q86XS9|Q8NC20	In_Frame_Del	DEL	pfam_Ion_trans_dom	p.L192in_frame_del	ENST00000335509.6	37	c.565_567	CCDS31908.1	12																																																																																			TPCN1	-	NULL	ENSG00000186815		0.640	TPCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN1	HGNC	protein_coding	OTTHUMT00000405156.3		0.00	48	0	CTG	NM_017901		113704098	+1	tier1		no_errors	ENST00000541517	ensembl	human	known	74_37	in_frame_del	10.71	25	3	DEL	1.000:1.000:1.000	-
TRIM25	7706	genome.wustl.edu	37	17	54978858	54978858	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:54978858T>A	ENST00000316881.4	-	4	1058	c.1009A>T	c.(1009-1011)Atc>Ttc	p.I337F	TRIM25_ENST00000537230.1_Missense_Mutation_p.I337F	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	337	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					CTCTGGTGGATGCCTTTTATC	0.547																																																	0													437.0	387.0	404.0					17																	54978858		2203	4300	6503	SO:0001583	missense	0			D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.1009A>T	17.37:g.54978858T>A	ENSP00000323889:p.Ile337Phe			Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.I337F	ENST00000316881.4	37	c.1009	CCDS11591.1	17	.	.	.	.	.	.	.	.	.	.	T	14.10	2.435372	0.43224	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.69175	-0.38;-0.38	5.53	-1.86	0.07760	.	0.696409	0.13578	N	0.377528	T	0.51856	0.1699	L	0.53249	1.67	0.09310	N	1	B	0.33919	0.432	B	0.31751	0.135	T	0.37776	-0.9691	10	0.23891	T	0.37	.	5.9479	0.19229	0.1204:0.4403:0.0:0.4392	.	337	Q14258	TRI25_HUMAN	F	337	ENSP00000323889:I337F;ENSP00000445961:I337F	ENSP00000323889:I337F	I	-	1	0	TRIM25	52333857	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.259000	0.02861	-0.112000	0.11979	-0.375000	0.07067	ATC	TRIM25	-	NULL	ENSG00000121060		0.547	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM25	HGNC	protein_coding	OTTHUMT00000440609.1	-	0.00	60	0	T	NM_005082		54978858	-1	tier1	-	no_errors	ENST00000316881	ensembl	human	known	74_37	missense	30.77	27	12	SNP	0.000	A
TRIM55	84675	genome.wustl.edu	37	8	67066571	67066571	+	Splice_Site	SNP	T	T	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr8:67066571T>C	ENST00000315962.4	+	9	1897		c.e9+2		TRIM55_ENST00000350034.4_Intron|TRIM55_ENST00000353317.5_Intron|TRIM55_ENST00000276573.7_Splice_Site	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55						signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			ACTTCTCAGGTTAGTGATGAT	0.542																																																	0													86.0	79.0	82.0					8																	67066571		2203	4300	6503	SO:0001630	splice_region_variant	0			AJ291712	CCDS6184.1, CCDS6185.1, CCDS6186.1, CCDS6187.1	8q13.1	2013-01-09	2011-01-25	2004-11-17	ENSG00000147573	ENSG00000147573		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	14215	protein-coding gene	gene with protein product		606469	"""ring finger protein 29"", ""tripartite motif-containing 55"""	RNF29		11243782	Standard	NM_033058		Approved	MURF-2	uc003xvv.3	Q9BYV6	OTTHUMG00000164473	ENST00000315962.4:c.1524+2T>C	8.37:g.67066571T>C			B3KRC0|B3KRJ3|Q53XX3|Q8IUD9|Q8IUE4|Q96DV2|Q96DV3|Q9BYV5	Splice_Site	SNP	-	e9+2	ENST00000315962.4	37	c.1524+2	CCDS6184.1	8	.	.	.	.	.	.	.	.	.	.	T	21.3	4.135153	0.77662	.	.	ENSG00000147573	ENST00000315962;ENST00000276573	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.3603	0.83259	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRIM55	67229125	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	5.494000	0.66905	2.260000	0.74910	0.529000	0.55759	.	TRIM55	-	-	ENSG00000147573		0.542	TRIM55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM55	HGNC	protein_coding	OTTHUMT00000378921.1	-	0.00	25	0	T	NM_184085	Intron	67066571	+1	tier1	-	no_errors	ENST00000315962	ensembl	human	known	74_37	splice_site	23.08	10	3	SNP	1.000	C
CFAP46	54777	genome.wustl.edu	37	10	134690433	134690433	+	Silent	SNP	T	T	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr10:134690433T>C	ENST00000368586.5	-	31	4345	c.4245A>G	c.(4243-4245)gaA>gaG	p.E1415E	TTC40_ENST00000368582.2_Silent_p.E1415E	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGGGTAAGTCTTCCAGTTGTT	0.512																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000368586.5:c.4245A>G	10.37:g.134690433T>C				Silent	SNP	NULL	p.E1415	ENST00000368586.5	37	c.4245	CCDS58101.1	10																																																																																			TTC40	-	NULL	ENSG00000171811		0.512	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	-	0.00	59	0	T			134690433	-1	tier1	-	no_errors	ENST00000368582	ensembl	human	known	74_37	silent	28.57	15	6	SNP	0.006	C
TTN	7273	genome.wustl.edu	37	2	179585761	179585761	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:179585761G>T	ENST00000591111.1	-	77	22258	c.22034C>A	c.(22033-22035)tCt>tAt	p.S7345Y	RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6418Y|TTN_ENST00000589042.1_Missense_Mutation_p.S7662Y|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12908	Ig-like 55.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.S6418Y(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATGCCACAGAATTAATGAA	0.438																																																	1	Substitution - Missense(1)	large_intestine(1)											117.0	115.0	116.0					2																	179585761		1965	4171	6136	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22034C>A	2.37:g.179585761G>T	ENSP00000465570:p.Ser7345Tyr		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.S6418Y	ENST00000591111.1	37	c.19253		2	.	.	.	.	.	.	.	.	.	.	G	10.72	1.430485	0.25726	.	.	ENSG00000155657	ENST00000342992	T	0.68181	-0.31	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.80449	0.4625	L	0.54908	1.71	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.79729	-0.1681	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	7345	Q8WZ42	TITIN_HUMAN	Y	6418	ENSP00000343764:S6418Y	ENSP00000343764:S6418Y	S	-	2	0	TTN	179294006	1.000000	0.71417	0.626000	0.29213	0.795000	0.44927	4.353000	0.59411	2.937000	0.99478	0.650000	0.86243	TCT	TTN	-	pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000155657		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	28	0	G	NM_133378		179585761	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	missense	11.11	16	2	SNP	0.996	T
TTR	7276	genome.wustl.edu	37	18	29175162	29175162	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr18:29175162G>C	ENST00000237014.3	+	3	457	c.280G>C	c.(280-282)Gac>Cac	p.D94H		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	94			D -> H.		extracellular matrix organization (GO:0030198)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	hormone binding (GO:0042562)|identical protein binding (GO:0042802)	p.D94Y(1)		cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	AGTGGAAATAGACACCAAATC	0.453																																																	1	Substitution - Missense(1)	large_intestine(1)											127.0	105.0	112.0					18																	29175162		2203	4300	6503	SO:0001583	missense	0			M10605	CCDS11899.1	18q12.1	2014-09-17	2008-07-31		ENSG00000118271	ENSG00000118271			12405	protein-coding gene	gene with protein product		176300	"""prealbumin, amyloidosis type I"", ""carpal tunnel syndrome 1"""	PALB, CTS1		8309582	Standard	NM_000371		Approved	HsT2651, CTS	uc002kwx.4	P02766	OTTHUMG00000131984	ENST00000237014.3:c.280G>C	18.37:g.29175162G>C	ENSP00000237014:p.Asp94His		Q549C7|Q6IB96|Q9UBZ6|Q9UCM9	Missense_Mutation	SNP	pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase	p.D94H	ENST00000237014.3	37	c.280	CCDS11899.1	18	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980718	0.53827	.	.	ENSG00000118271	ENST00000237014;ENST00000432547;ENST00000541025	D	0.96168	-3.93	5.54	4.67	0.58626	Transthyretin/hydroxyisourate hydrolase, superfamily (4);	0.047372	0.85682	D	0.000000	D	0.97331	0.9127	M	0.77406	2.37	0.58432	D	0.999996	D	0.89917	1.0	D	0.71414	0.973	D	0.97931	1.0320	10	0.87932	D	0	-37.8382	14.5695	0.68202	0.0712:0.0:0.9288:0.0	.	94	P02766	TTHY_HUMAN	H	94	ENSP00000237014:D94H	ENSP00000237014:D94H	D	+	1	0	TTR	27429160	1.000000	0.71417	0.997000	0.53966	0.373000	0.29922	5.788000	0.69020	1.481000	0.48307	-0.137000	0.14449	GAC	TTR	-	pfam_Transthyretin/HIU_hydrolase_SF,superfamily_Transthyretin/HIU_hydrolase_SF,smart_Transthyretin/HIU_hydrolase_SF,prints_Transthyretin/HIU_hydrolase	ENSG00000118271		0.453	TTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTR	HGNC	protein_coding	OTTHUMT00000254948.1		0.00	87	0	G	NM_000371		29175162	+1			no_errors	ENST00000237014	ensembl	human	known	74_37	missense	5.26	36	2	SNP	1.000	C
TUB	7275	genome.wustl.edu	37	11	8118318	8118318	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:8118318C>T	ENST00000299506.2	+	6	801	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	TUB_ENST00000534099.1_Missense_Mutation_p.R224C|TUB_ENST00000305253.4_Missense_Mutation_p.R273C	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	218					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		TAGTAACACCCGCCCCAGCTC	0.552																																																	0													82.0	76.0	78.0					11																	8118318		2201	4296	6497	SO:0001583	missense	0			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.652C>T	11.37:g.8118318C>T	ENSP00000299506:p.Arg218Cys		D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.R273C	ENST00000299506.2	37	c.817	CCDS7787.1	11	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848505	0.71603	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.86769	-2.14;-2.17;-2.14	4.78	4.78	0.61160	Tubby, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92410	0.7591	M	0.62088	1.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.991;0.991;0.994	D	0.92940	0.6371	10	0.59425	D	0.04	-8.7122	18.1483	0.89665	0.0:1.0:0.0:0.0	.	224;218;273	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	C	224;273;218	ENSP00000434400:R224C;ENSP00000305426:R273C;ENSP00000299506:R218C	ENSP00000299506:R218C	R	+	1	0	TUB	8074894	0.995000	0.38212	1.000000	0.80357	0.989000	0.77384	2.758000	0.47565	2.349000	0.79799	0.491000	0.48974	CGC	TUB	-	prints_Tubby_N	ENSG00000166402		0.552	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	HGNC	protein_coding	OTTHUMT00000385823.1	-	0.00	37	0	C	NM_003320		8118318	+1	tier1	-	no_errors	ENST00000305253	ensembl	human	known	74_37	missense	26.67	11	4	SNP	1.000	T
UBA3	9039	genome.wustl.edu	37	3	69105806	69105806	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:69105806T>A	ENST00000361055.4	-	14	1094	c.1040A>T	c.(1039-1041)gAt>gTt	p.D347V	UBA3_ENST00000415609.2_Missense_Mutation_p.D306V|CTD-2013N24.2_ENST00000595925.1_RNA|UBA3_ENST00000540295.1_Missense_Mutation_p.D170V|UBA3_ENST00000349511.4_Missense_Mutation_p.D333V	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	347					cellular protein modification process (GO:0006464)|endomitotic cell cycle (GO:0007113)|protein neddylation (GO:0045116)|proteolysis (GO:0006508)|regulation of cell cycle (GO:0051726)	cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|NEDD8 activating enzyme activity (GO:0019781)|protein heterodimerization activity (GO:0046982)			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		CCCATCTACATCATTAAACAC	0.264																																																	0													111.0	112.0	111.0					3																	69105806		2201	4294	6495	SO:0001583	missense	0			AB012190	CCDS2909.1, CCDS2910.1	3p14.1	2013-09-26	2007-11-30	2007-11-30	ENSG00000144744	ENSG00000144744		"""Ubiquitin-like modifier activating enzymes"""	12470	protein-coding gene	gene with protein product	"""NEDD8-activating enzyme E1 catalytic subunit"", ""NEDD8-activating enzyme E1 subunit 2"""	603172	"""ubiquitin-activating enzyme E1C (homologous to yeast UBA3)"", ""ubiquitin-activating enzyme E1C (UBA3 homolog, yeast)"""	UBE1C		9694792	Standard	NM_003968		Approved	hUba3, NAE2	uc003dno.3	Q8TBC4	OTTHUMG00000154325	ENST00000361055.4:c.1040A>T	3.37:g.69105806T>A	ENSP00000354340:p.Asp347Val		A6NLB5|A8K027|O76088|Q9NTU3	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_E2_binding,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB	p.D347V	ENST00000361055.4	37	c.1040	CCDS2909.1	3	.	.	.	.	.	.	.	.	.	.	T	18.36	3.606303	0.66445	.	.	ENSG00000144744	ENST00000415609;ENST00000361055;ENST00000349511;ENST00000540295	T;T;T;T	0.36520	1.25;1.25;1.25;1.25	5.92	5.92	0.95590	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.64789	0.2630	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.70026	-0.4985	10	0.87932	D	0	-18.0573	16.4116	0.83717	0.0:0.0:0.0:1.0	.	333;347	Q8TBC4-2;Q8TBC4	.;UBA3_HUMAN	V	306;347;333;170	ENSP00000400294:D306V;ENSP00000354340:D347V;ENSP00000340041:D333V;ENSP00000440085:D170V	ENSP00000340041:D333V	D	-	2	0	UBA3	69188496	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	7.964000	0.87933	2.276000	0.75962	0.529000	0.55759	GAT	UBA3	-	superfamily_Molybdenum_cofac_synth_MoeB	ENSG00000144744		0.264	UBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA3	HGNC	protein_coding	OTTHUMT00000334839.1	-	0.00	45	0	T	NM_198195		69105806	-1	tier1	-	no_errors	ENST00000361055	ensembl	human	known	74_37	missense	36.36	14	8	SNP	1.000	A
UBN2	254048	genome.wustl.edu	37	7	138969300	138969300	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr7:138969300G>T	ENST00000473989.3	+	15	3649	c.3649G>T	c.(3649-3651)Gtg>Ttg	p.V1217L	UBN2_ENST00000288561.8_Missense_Mutation_p.V1134L	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2	1217	Ser-rich.					extracellular space (GO:0005615)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AGGGTCTTCAGTGGTAACAGC	0.438																																																	0													48.0	51.0	50.0					7																	138969300		1997	4159	6156	SO:0001583	missense	0			AK098644	CCDS43655.1, CCDS43655.2	7q34	2008-12-08			ENSG00000157741	ENSG00000157741			21931	protein-coding gene	gene with protein product		613841				19029251	Standard	NM_173569		Approved	FLJ25778, KIAA2030	uc011kqr.2	Q6ZU65	OTTHUMG00000157623	ENST00000473989.3:c.3649G>T	7.37:g.138969300G>T	ENSP00000418648:p.Val1217Leu		A4D1S2|Q2YDY4|Q6P1K0|Q86XN9|Q8N7D1	Missense_Mutation	SNP	NULL	p.V1217L	ENST00000473989.3	37	c.3649	CCDS43655.2	7	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891698	0.72524	.	.	ENSG00000157741	ENST00000473989;ENST00000288561	T;T	0.32272	1.46;1.5	5.57	5.57	0.84162	.	0.079972	0.52532	D	0.000077	T	0.48750	0.1517	L	0.52573	1.65	0.43982	D	0.996678	P	0.44690	0.841	P	0.58820	0.846	T	0.07790	-1.0754	10	0.27082	T	0.32	-4.0345	19.9133	0.97031	0.0:0.0:1.0:0.0	.	1217	Q6ZU65	UBN2_HUMAN	L	1217;1134	ENSP00000418648:V1217L;ENSP00000288561:V1134L	ENSP00000288561:V1134L	V	+	1	0	UBN2	138619840	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	6.722000	0.74735	2.777000	0.95525	0.557000	0.71058	GTG	UBN2	-	NULL	ENSG00000157741		0.438	UBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBN2	HGNC	protein_coding	OTTHUMT00000349272.3	-	0.00	31	0	G	NM_173569		138969300	+1	tier1	-	no_errors	ENST00000473989	ensembl	human	known	74_37	missense	11.11	32	4	SNP	1.000	T
UNC13A	23025	genome.wustl.edu	37	19	17759280	17759280	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:17759280G>T	ENST00000519716.2	-	16	1775	c.1776C>A	c.(1774-1776)caC>caA	p.H592Q	UNC13A_ENST00000551649.1_Missense_Mutation_p.H592Q|UNC13A_ENST00000552293.1_Missense_Mutation_p.H592Q|UNC13A_ENST00000550896.1_Missense_Mutation_p.H590Q|UNC13A_ENST00000252773.7_Missense_Mutation_p.H592Q|UNC13A_ENST00000428389.2_Missense_Mutation_p.H680Q	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	592					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						GGCACTTCTCGTGGCACTTGA	0.701																																																	0													54.0	57.0	56.0					19																	17759280		2201	4298	6499	SO:0001583	missense	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.1776C>A	19.37:g.17759280G>T	ENSP00000429562:p.His592Gln		E5RHY9	Missense_Mutation	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.H680Q	ENST00000519716.2	37	c.2040	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	g	19.48	3.835587	0.71373	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;D;D;D	0.99557	-6.16;-6.16;-6.16;-6.16;-6.16;-6.16	4.03	1.79	0.24919	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	U	0.000000	D	0.99658	0.9873	H	0.98664	4.295	0.42059	D	0.991158	D	0.76494	0.999	D	0.70487	0.969	D	0.98288	1.0512	10	0.87932	D	0	-31.4707	3.7192	0.08449	0.2134:0.0:0.5919:0.1947	.	592	Q9UPW8	UN13A_HUMAN	Q	592;680;592;592;592;590	ENSP00000429562:H592Q;ENSP00000400409:H680Q;ENSP00000252773:H592Q;ENSP00000447236:H592Q;ENSP00000447572:H592Q;ENSP00000446831:H590Q	ENSP00000252773:H592Q	H	-	3	2	UNC13A	17620280	0.997000	0.39634	1.000000	0.80357	0.960000	0.62799	0.322000	0.19576	0.268000	0.21939	0.486000	0.48141	CAC	UNC13A	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000130477		0.701	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	-	0.00	54	0	G	XM_038604		17759280	-1	tier1	-	no_errors	ENST00000428389	ensembl	human	known	74_37	missense	18.52	22	5	SNP	1.000	T
UNC5B	219699	genome.wustl.edu	37	10	73056419	73056419	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr10:73056419delA	ENST00000335350.6	+	15	2826	c.2410delA	c.(2410-2412)acafs	p.T804fs	UNC5B_ENST00000373192.4_Frame_Shift_Del_p.T793fs	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	804	UPA domain. {ECO:0000250}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of apoptotic process (GO:0043065)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CTTGGCCTCCACAGAGCTCAC	0.607																																																	0													77.0	68.0	71.0					10																	73056419		2203	4300	6503	SO:0001589	frameshift_variant	0			AB096256	CCDS7309.1, CCDS58083.1	10q22.2	2013-01-11	2001-11-28		ENSG00000107731	ENSG00000107731		"""Immunoglobulin superfamily / I-set domain containing"""	12568	protein-coding gene	gene with protein product		607870	"""unc5 (C.elegans homolog) b"""				Standard	NM_170744		Approved	UNC5H2, p53RDL1	uc001jro.3	Q8IZJ1	OTTHUMG00000018422	ENST00000335350.6:c.2410delA	10.37:g.73056419delA	ENSP00000334329:p.Thr804fs		Q5T3R9|Q5T3S0|Q86SN3|Q8N1Y2|Q9H9F3	Frame_Shift_Del	DEL	pfam_ZU5,pfam_Ig_I-set,pfam_Death_domain,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom	p.T804fs	ENST00000335350.6	37	c.2410	CCDS7309.1	10																																																																																			UNC5B	-	NULL	ENSG00000107731		0.607	UNC5B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5B	HGNC	protein_coding	OTTHUMT00000048541.1		0.00	48	0	A	NM_170744		73056419	+1	tier1		no_errors	ENST00000335350	ensembl	human	known	74_37	frame_shift_del	10.53	17	2	DEL	1.000	-
USP43	124739	genome.wustl.edu	37	17	9631606	9631606	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr17:9631606C>T	ENST00000285199.7	+	15	2767	c.2671C>T	c.(2671-2673)Ccc>Tcc	p.P891S	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.P886S	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	891					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AGCCGGGGTGCCCTGTCCCTC	0.582																																																	0													25.0	28.0	27.0					17																	9631606		1990	4146	6136	SO:0001583	missense	0			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2671C>T	17.37:g.9631606C>T	ENSP00000285199:p.Pro891Ser		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67	p.P891S	ENST00000285199.7	37	c.2671	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	C	10.17	1.275629	0.23307	.	.	ENSG00000154914	ENST00000285199	T	0.09630	2.96	5.1	0.556	0.17253	.	24.164500	0.00166	N	0.000000	T	0.09818	0.0241	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.14438	0.001;0.0;0.003;0.01	B;B;B;B	0.10450	0.001;0.002;0.002;0.005	T	0.29366	-1.0014	10	0.17832	T	0.49	-14.8222	1.6126	0.02697	0.1779:0.4845:0.1538:0.1838	.	886;580;891;403	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	S	891	ENSP00000285199:P891S	ENSP00000285199:P891S	P	+	1	0	USP43	9572331	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-1.173000	0.03108	0.326000	0.23384	-0.150000	0.13652	CCC	USP43	-	NULL	ENSG00000154914		0.582	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3		0.00	30	0	C	NM_153210		9631606	+1			no_errors	ENST00000285199	ensembl	human	known	74_37	missense	13.64	19	3	SNP	0.000	T
VGLL3	389136	genome.wustl.edu	37	3	87027857	87027859	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	CTC	CTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr3:87027857_87027859delCTC	ENST00000398399.2	-	2	583_585	c.220_222delGAG	c.(220-222)gagdel	p.E74del	VGLL3_ENST00000383698.3_In_Frame_Del_p.E74del	NM_016206.2	NP_057290.2			vestigial-like family member 3											NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		GCTGGtctttctcctcctcctcc	0.502																																																	0										1,38,3879		0,0,1,6,26,1926						5.1	1.0			64	3,85,7944		0,0,3,22,41,3950	no	codingComplex	VGLL3	NM_016206.2		0,0,4,28,67,5876	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0956,0.9954,1.0628				4,123,11823				SO:0001651	inframe_deletion	0			AF099505	CCDS43110.1	3p12.1	2014-03-03	2014-03-03		ENSG00000206538	ENSG00000206538			24327	protein-coding gene	gene with protein product		609980	"""vestigial like 3 (Drosophila)"""			12376544	Standard	NM_016206		Approved	VGL-3	uc003dqn.3	A8MV65	OTTHUMG00000158984	ENST00000398399.2:c.220_222delGAG	3.37:g.87027866_87027868delCTC	ENSP00000381436:p.Glu74del			In_Frame_Del	DEL	pfam_Vg_Tdu,smart_TDU_repeat	p.E74in_frame_del	ENST00000398399.2	37	c.222_220	CCDS43110.1	3																																																																																			VGLL3	-	NULL	ENSG00000206538		0.502	VGLL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VGLL3	HGNC	protein_coding	OTTHUMT00000352805.1		0.00	47	0	CTC	NM_016206		87027859	-1	tier1		no_errors	ENST00000398399	ensembl	human	known	74_37	in_frame_del	15.79	16	3	DEL	1.000:1.000:1.000	-
VPS54	51542	genome.wustl.edu	37	2	64189243	64189243	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr2:64189243G>T	ENST00000272322.4	-	7	1113	c.959C>A	c.(958-960)gCa>gAa	p.A320E	VPS54_ENST00000409558.4_Missense_Mutation_p.A308E|VPS54_ENST00000354504.3_Missense_Mutation_p.A203E			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	320					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TTGTGTTGTTGCTATTAAGTC	0.378																																																	0													126.0	124.0	125.0					2																	64189243		2203	4300	6503	SO:0001583	missense	0			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.959C>A	2.37:g.64189243G>T	ENSP00000272322:p.Ala320Glu		Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	pfam_Vps54,pfam_Vacuolar_sorting-assoc_54	p.A320E	ENST00000272322.4	37	c.959	CCDS33208.1	2	.	.	.	.	.	.	.	.	.	.	G	21.2	4.111885	0.77210	.	.	ENSG00000143952	ENST00000354504;ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T;T	0.27256	1.7;1.68;1.69	5.65	5.65	0.86999	Vacuolar protein sorting-associated protein 54 (1);	0.100539	0.64402	D	0.000003	T	0.21186	0.0510	L	0.31926	0.97	0.80722	D	1	B;P;P	0.36483	0.02;0.555;0.499	B;B;B	0.37451	0.03;0.25;0.161	T	0.02358	-1.1171	10	0.02654	T	1	.	19.7279	0.96172	0.0:0.0:1.0:0.0	.	203;320;308	Q9P1Q0-3;Q9P1Q0;Q9P1Q0-4	.;VPS54_HUMAN;.	E	203;320;308;308;320	ENSP00000346499:A203E;ENSP00000272322:A320E;ENSP00000386980:A308E	ENSP00000272322:A320E	A	-	2	0	VPS54	64042747	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.659000	0.90383	0.561000	0.74099	GCA	VPS54	-	pfam_Vacuolar_sorting-assoc_54	ENSG00000143952		0.378	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS54	HGNC	protein_coding	OTTHUMT00000327062.2		0.00	102	0	G	NM_016516		64189243	-1			no_errors	ENST00000272322	ensembl	human	known	74_37	missense	5.08	55	3	SNP	1.000	T
WAC	51322	genome.wustl.edu	37	10	28899729	28899729	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr10:28899729G>T	ENST00000354911.4	+	9	1428	c.1267G>T	c.(1267-1269)Gct>Tct	p.A423S	WAC_ENST00000375664.4_Missense_Mutation_p.A378S|WAC_ENST00000347934.4_Missense_Mutation_p.A320S|WAC_ENST00000428935.1_Missense_Mutation_p.A378S|WAC_ENST00000375646.1_Missense_Mutation_p.A271S	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	423					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.A423T(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GATTTCTCAAGCTGCTCAGCT	0.378																																																	1	Substitution - Missense(1)	large_intestine(1)											172.0	166.0	168.0					10																	28899729		2203	4300	6503	SO:0001583	missense	0			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.1267G>T	10.37:g.28899729G>T	ENSP00000346986:p.Ala423Ser		A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.A423S	ENST00000354911.4	37	c.1267	CCDS7159.1	10	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437394	0.83885	.	.	ENSG00000095787	ENST00000375664;ENST00000375646;ENST00000347934;ENST00000354911;ENST00000428935	T;T;T;T;T	0.39997	1.6;1.77;1.68;1.6;1.05	5.45	4.55	0.56014	.	0.097976	0.64402	D	0.000001	T	0.49643	0.1569	L	0.27053	0.805	0.48696	D	0.999697	B;D;B;D	0.71674	0.419;0.998;0.295;0.996	B;D;B;D	0.76071	0.202;0.915;0.1;0.987	T	0.43605	-0.9381	10	0.30078	T	0.28	-18.7691	14.5228	0.67863	0.0707:0.0:0.9293:0.0	.	378;320;423;378	Q9BTA9-2;Q9BTA9-5;Q9BTA9;Q9BTA9-3	.;.;WAC_HUMAN;.	S	378;271;320;423;378	ENSP00000364816:A378S;ENSP00000364797:A271S;ENSP00000311106:A320S;ENSP00000346986:A423S;ENSP00000399706:A378S	ENSP00000311106:A320S	A	+	1	0	WAC	28939735	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.604000	0.82830	1.439000	0.47511	-0.262000	0.10625	GCT	WAC	-	NULL	ENSG00000095787		0.378	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1		0.00	76	0	G	NM_100264		28899729	+1			no_errors	ENST00000354911	ensembl	human	known	74_37	missense	6.06	31	2	SNP	1.000	T
WNK1	65125	genome.wustl.edu	37	12	970189	970189	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr12:970189G>T	ENST00000315939.6	+	7	2274	c.1631G>T	c.(1630-1632)gGg>gTg	p.G544V	WNK1_ENST00000340908.4_Missense_Mutation_p.G137V|WNK1_ENST00000537687.1_Missense_Mutation_p.G544V|WNK1_ENST00000535572.1_Missense_Mutation_p.G544V|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000530271.2_Missense_Mutation_p.G544V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	544					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)			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)			GTAGAGTCTGGGTATGTCTGT	0.433																																					Colon(19;451 567 6672 12618 28860)												0													151.0	168.0	162.0					12																	970189		2203	4300	6503	SO:0001583	missense	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.1631G>T	12.37:g.970189G>T	ENSP00000313059:p.Gly544Val		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	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.G544V	ENST00000315939.6	37	c.1631	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574000	0.86542	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000530271;ENST00000340908	T;T;T;T;T	0.73047	-0.63;-0.71;-0.58;-0.64;-0.03	5.57	5.57	0.84162	.	0.000000	0.64402	D	0.000005	D	0.86606	0.5973	M	0.84948	2.725	0.80722	D	1	D;D	0.69078	0.995;0.997	D;D	0.87578	0.997;0.998	D	0.88178	0.2869	10	0.87932	D	0	-10.7453	19.5385	0.95264	0.0:0.0:1.0:0.0	.	544;544	F5GWT4;Q9H4A3	.;WNK1_HUMAN	V	544;544;544;544;137	ENSP00000441972:G544V;ENSP00000313059:G544V;ENSP00000444465:G544V;ENSP00000433548:G544V;ENSP00000341292:G137V	ENSP00000313059:G544V	G	+	2	0	WNK1	840450	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.869000	0.99810	2.622000	0.88805	0.591000	0.81541	GGG	WNK1	-	NULL	ENSG00000060237		0.433	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	-	0.00	66	0	G	NM_018979		970189	+1	tier1	-	no_errors	ENST00000530271	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
XRRA1	143570	genome.wustl.edu	37	11	74656099	74656099	+	5'UTR	DEL	T	T	-			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr11:74656099delT	ENST00000340360.6	-	0	291				AP001992.1_ENST00000578538.1_RNA|XRRA1_ENST00000321448.8_Intron|XRRA1_ENST00000533598.1_5'UTR|XRRA1_ENST00000527087.1_5'UTR	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CTTAACTTCCTTTTTTTTTTG	0.368																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.-41A>-	11.37:g.74656099delT				RNA	DEL	-	NULL	ENST00000340360.6	37	NULL	CCDS44680.1	11																																																																																			XRRA1	-	-	ENSG00000166435		0.368	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1		0.00	52	0	T	NM_182969		74656099	-1	tier1		no_errors	ENST00000524430	ensembl	human	known	74_37	rna	14.29	30	5	DEL	0.998	-
ZFHX4	79776	genome.wustl.edu	37	8	77775449	77775451	+	In_Frame_Del	DEL	CCT	CCT	-	rs199874527		TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr8:77775449_77775451delCCT	ENST00000521891.2	+	11	9947_9949	c.9499_9501delCCT	c.(9499-9501)cctdel	p.P3173del	ZFHX4_ENST00000518282.1_In_Frame_Del_p.P3147del|ZFHX4_ENST00000050961.6_In_Frame_Del_p.P3124del|ZFHX4_ENST00000455469.2_In_Frame_Del_p.P3128del	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3124					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)	p.P3151H(1)		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)			acctccaccacctcctcctcctc	0.522										HNSCC(33;0.089)																																							1	Substitution - Missense(1)	large_intestine(1)								40,3796		5,30,1883						2.2	1.0			54	74,7900		1,72,3914	no	coding	ZFHX4	NM_024721.4		6,102,5797	A1A1,A1R,RR		0.928,1.0428,0.9653				114,11696				SO:0001651	inframe_deletion	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.9499_9501delCCT	8.37:g.77775458_77775460delCCT	ENSP00000430497:p.Pro3173del		G3V138|Q18PS0|Q6ZN20	In_Frame_Del	DEL	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.P3170in_frame_del	ENST00000521891.2	37	c.9499_9501	CCDS47878.2	8																																																																																			ZFHX4	-	NULL	ENSG00000091656		0.522	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2		0.00	50	0	CCT	NM_024721		77775451	+1	tier1		no_errors	ENST00000521891	ensembl	human	known	74_37	in_frame_del	11.11	24	3	DEL	1.000:0.995:0.658	-
ZMYND19	116225	genome.wustl.edu	37	9	140482240	140482240	+	Silent	SNP	A	A	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr9:140482240A>T	ENST00000298585.2	-	3	373	c.147T>A	c.(145-147)gcT>gcA	p.A49A	ZMYND19_ENST00000471957.1_5'UTR	NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	49						cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|synapse (GO:0045202)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CAAATATCTTAGCACCATTTC	0.498																																																	0													194.0	211.0	205.0					9																	140482240		2203	4300	6503	SO:0001819	synonymous_variant	0			BC012948	CCDS7048.1	9q34.3	2008-02-05			ENSG00000165724	ENSG00000165724		"""Zinc fingers, MYND-type"""	21146	protein-coding gene	gene with protein product		611424					Standard	NM_138462		Approved	MIZIP	uc004cno.1	Q96E35	OTTHUMG00000020992	ENST00000298585.2:c.147T>A	9.37:g.140482240A>T			Q5T366	Silent	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.A49	ENST00000298585.2	37	c.147	CCDS7048.1	9																																																																																			ZMYND19	-	NULL	ENSG00000165724		0.498	ZMYND19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND19	HGNC	protein_coding	OTTHUMT00000055356.1	-	0.00	93	0	A	NM_138462		140482240	-1	tier1	-	no_errors	ENST00000298585	ensembl	human	known	74_37	silent	30.91	38	17	SNP	1.000	T
ZNF136	7695	genome.wustl.edu	37	19	12298428	12298428	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:12298428G>T	ENST00000343979.4	+	4	1375	c.1235G>T	c.(1234-1236)aGa>aTa	p.R412I	ZNF136_ENST00000398616.2_Missense_Mutation_p.R346I	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	412					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						ATACATGAAAGAACTCACACT	0.368																																																	0													66.0	62.0	63.0					19																	12298428		2203	4300	6503	SO:0001583	missense	0			U09367	CCDS32916.1	19p13.2	2013-01-08	2006-06-13		ENSG00000196646	ENSG00000196646		"""Zinc fingers, C2H2-type"", ""-"""	12920	protein-coding gene	gene with protein product		604078	"""zinc finger protein 136 (clone pHZ-20)"""			7557990	Standard	NM_003437		Approved	pHZ-20	uc002mti.3	P52737	OTTHUMG00000156429	ENST00000343979.4:c.1235G>T	19.37:g.12298428G>T	ENSP00000344162:p.Arg412Ile			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.R412I	ENST00000343979.4	37	c.1235	CCDS32916.1	19	.	.	.	.	.	.	.	.	.	.	G	21.3	4.130146	0.77549	.	.	ENSG00000196646	ENST00000343979;ENST00000398616	T;T	0.24908	1.83;1.83	1.25	0.182	0.15077	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46034	0.1372	M	0.82193	2.58	0.33320	D	0.567197	D	0.76494	0.999	D	0.66847	0.947	T	0.55921	-0.8064	8	.	.	.	.	6.8511	0.24014	0.1737:0.0:0.8263:0.0	.	412	P52737	ZN136_HUMAN	I	412;346	ENSP00000344162:R412I;ENSP00000381617:R346I	.	R	+	2	0	ZNF136	12159428	0.000000	0.05858	0.606000	0.28943	0.993000	0.82548	-0.504000	0.06375	0.089000	0.17243	0.655000	0.94253	AGA	ZNF136	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196646		0.368	ZNF136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF136	HGNC	protein_coding	OTTHUMT00000344151.2		0.00	65	0	G	NM_003437		12298428	+1			no_errors	ENST00000343979	ensembl	human	known	74_37	missense	7.14	39	3	SNP	0.999	T
ZNF254	9534	genome.wustl.edu	37	19	24310230	24310230	+	Silent	SNP	C	C	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:24310230C>A	ENST00000357002.4	+	4	1543	c.1428C>A	c.(1426-1428)acC>acA	p.T476T	ZNF254_ENST00000342944.6_Silent_p.T391T	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	476					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GGTCCTCAACCCTAACTAGAC	0.393																																																	0													61.0	61.0	61.0					19																	24310230		2203	4299	6502	SO:0001819	synonymous_variant	0			AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1428C>A	19.37:g.24310230C>A			A4QPC0|Q86XL7	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.T476	ENST00000357002.4	37	c.1428	CCDS32983.1	19																																																																																			ZNF254	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000213096		0.393	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF254	HGNC	protein_coding	OTTHUMT00000466453.1		0.00	68	0	C	NM_004876		24310230	+1			no_errors	ENST00000357002	ensembl	human	known	74_37	silent	17.86	46	10	SNP	0.001	A
ZNF3	7551	genome.wustl.edu	37	7	99672873	99672873	+	Silent	SNP	G	G	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr7:99672873G>A	ENST00000424697.1	-	5	462	c.156C>T	c.(154-156)acC>acT	p.T52T	ZNF3_ENST00000413658.2_Silent_p.T52T|ZNF3_ENST00000303915.6_Silent_p.T52T|ZNF3_ENST00000299667.4_Silent_p.T52T	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CATCCTCAAAGGTTACCAGCT	0.488																																																	0													112.0	110.0	111.0					7																	99672873		2188	4291	6479	SO:0001819	synonymous_variant	0			AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.156C>T	7.37:g.99672873G>A			D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	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.T52	ENST00000424697.1	37	c.156	CCDS43619.1	7																																																																																			ZNF3	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000166526		0.488	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF3	HGNC	protein_coding	OTTHUMT00000336247.3	-	0.00	45	0	G	NM_017715		99672873	-1	tier1	-	no_errors	ENST00000299667	ensembl	human	known	74_37	silent	31.25	11	5	SNP	0.910	A
ZNF443	10224	genome.wustl.edu	37	19	12541473	12541473	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:12541473C>A	ENST00000301547.5	-	4	1710	c.1513G>T	c.(1513-1515)Gag>Tag	p.E505*	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	505					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TCCTTACACTCATATGGCTTC	0.393																																																	0													78.0	79.0	79.0					19																	12541473		2202	4300	6502	SO:0001587	stop_gained	0			AB011414	CCDS32918.1	19p13.13	2013-01-08			ENSG00000180855	ENSG00000180855		"""Zinc fingers, C2H2-type"", ""-"""	20878	protein-coding gene	gene with protein product		606697				9731181	Standard	NM_005815		Approved	ZK1	uc002mtu.3	Q9Y2A4	OTTHUMG00000156404	ENST00000301547.5:c.1513G>T	19.37:g.12541473C>A	ENSP00000301547:p.Glu505*			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.E505*	ENST00000301547.5	37	c.1513	CCDS32918.1	19	.	.	.	.	.	.	.	.	.	.	C	16.60	3.168400	0.57584	.	.	ENSG00000180855	ENST00000301547;ENST00000411622	.	.	.	1.33	-2.65	0.06095	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	1.437	0.02345	0.1614:0.3304:0.3233:0.185	.	.	.	.	X	505	.	ENSP00000301547:E505X	E	-	1	0	ZNF443	12402473	0.000000	0.05858	0.001000	0.08648	0.031000	0.12232	-5.363000	0.00128	-1.521000	0.01771	-0.514000	0.04452	GAG	ZNF443	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180855		0.393	ZNF443-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF443	HGNC	protein_coding	OTTHUMT00000344084.1	-	0.00	59	0	C	NM_005815		12541473	-1	tier1	-	no_errors	ENST00000301547	ensembl	human	known	74_37	nonsense	16.67	20	4	SNP	0.007	A
ZNF600	162966	genome.wustl.edu	37	19	53269156	53269156	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr19:53269156G>T	ENST00000338230.3	-	3	2120	c.1853C>A	c.(1852-1854)gCt>gAt	p.A618D		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	618					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(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TTGATTAAAAGCCTTCCCACA	0.388																																					Esophageal Squamous(196;1235 2112 2375 33339 34207)												0													121.0	120.0	120.0					19																	53269156		2203	4300	6503	SO:0001583	missense	0			U52096	CCDS12856.1	19q13.42	2013-01-08				ENSG00000189190		"""Zinc fingers, C2H2-type"""	30951	protein-coding gene	gene with protein product						12576331	Standard	NM_198457		Approved	KR-ZNF1, DKFZp686F06123	uc002qab.4	Q6ZNG1		ENST00000338230.3:c.1853C>A	19.37:g.53269156G>T	ENSP00000344791:p.Ala618Asp		Q6MZR0	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A618D	ENST00000338230.3	37	c.1853	CCDS12856.1	19	.	.	.	.	.	.	.	.	.	.	.	7.073	0.568727	0.13560	.	.	ENSG00000189190	ENST00000338230	T	0.36340	1.26	1.58	-3.15	0.05233	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.33933	0.0880	L	0.60904	1.88	0.09310	N	1	B	0.33044	0.395	B	0.39152	0.292	T	0.31833	-0.9929	9	0.66056	D	0.02	.	6.3235	0.21231	0.3306:0.1502:0.5192:0.0	.	618	Q6ZNG1	ZN600_HUMAN	D	618	ENSP00000344791:A618D	ENSP00000344791:A618D	A	-	2	0	ZNF600	57960968	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.180000	0.03088	-2.131000	0.00815	-2.149000	0.00334	GCT	ZNF600	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000189190		0.388	ZNF600-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF600	HGNC	protein_coding	OTTHUMT00000463093.1	-	0.00	128	0	G	NM_198457		53269156	-1	tier1	-	no_errors	ENST00000338230	ensembl	human	known	74_37	missense	6.25	60	4	SNP	0.000	T
ZNF644	84146	genome.wustl.edu	37	1	91406514	91406514	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:91406514T>C	ENST00000370440.1	-	3	614	c.397A>G	c.(397-399)Aaa>Gaa	p.K133E	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.K133E|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	133					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(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACACTGCCTTTATTCATATTG	0.423																																																	0													81.0	78.0	79.0					1																	91406514		2203	4300	6503	SO:0001583	missense	0			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.397A>G	1.37:g.91406514T>C	ENSP00000359469:p.Lys133Glu		A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K133E	ENST00000370440.1	37	c.397	CCDS731.1	1	.	.	.	.	.	.	.	.	.	.	T	11.37	1.619808	0.28801	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000541557	T;T	0.00608	6.25;6.25	5.91	4.79	0.61399	.	0.129731	0.53938	N	0.000051	T	0.00178	0.0005	N	0.11560	0.145	0.40406	D	0.979701	B	0.11235	0.004	B	0.09377	0.004	T	0.57642	-0.7776	10	0.30078	T	0.28	-11.5737	11.1952	0.48709	0.0:0.0724:0.0:0.9276	.	133	Q9H582	ZN644_HUMAN	E	133	ENSP00000359469:K133E;ENSP00000337008:K133E	ENSP00000337008:K133E	K	-	1	0	ZNF644	91179102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.584000	0.67490	1.076000	0.40961	0.533000	0.62120	AAA	ZNF644	-	NULL	ENSG00000122482		0.423	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF644	HGNC	protein_coding	OTTHUMT00000027846.2	-	0.00	31	0	T	NM_032186		91406514	-1	tier1	-	no_errors	ENST00000337393	ensembl	human	known	74_37	missense	55.56	4	5	SNP	1.000	C
ZNF703	80139	genome.wustl.edu	37	8	37555934	37555936	+	In_Frame_Del	DEL	CGC	CGC	-	rs568050040	byFrequency	TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	CGC	CGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr8:37555934_37555936delCGC	ENST00000331569.4	+	2	1744_1746	c.1515_1517delCGC	c.(1513-1518)agcgcc>agc	p.A514del		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	514	Poly-Ala.				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)			GCCTGGGCAGcgccgccgccgcc	0.768																																																	0																																										SO:0001651	inframe_deletion	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.1515_1517delCGC	8.37:g.37555943_37555945delCGC	ENSP00000332325:p.Ala514del		Q5XG76	In_Frame_Del	DEL	pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.A509in_frame_del	ENST00000331569.4	37	c.1515_1517	CCDS6094.1	8																																																																																			ZNF703	-	NULL	ENSG00000183779		0.768	ZNF703-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF703	HGNC	protein_coding	OTTHUMT00000376683.2		0.00	25	0	CGC	NM_025069		37555936	+1	tier1		no_errors	ENST00000331569	ensembl	human	known	74_37	in_frame_del	30.00	7	3	DEL	0.974:0.996:0.997	-
ZZZ3	26009	genome.wustl.edu	37	1	78030077	78030077	+	IGR	SNP	A	A	C			TCGA-LN-A9FR-01A-11D-A387-09	TCGA-LN-A9FR-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	f234ab6a-0cad-432f-948a-6728266f3b1c	4974181f-23a7-4b20-8aef-ece89709a24e	g.chr1:78030077A>C	ENST00000370801.3	-	0	4328				ZZZ3_ENST00000476275.1_5'Flank	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3						chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ACAGAAAGAAAACTCTTAAAT	0.294																																																	0																																										SO:0001628	intergenic_variant	0			AL080063	CCDS677.1	1p31.1	2012-08-13			ENSG00000036549	ENSG00000036549		"""Zinc fingers, ZZ-type"""	24523	protein-coding gene	gene with protein product	"""ATAC component 1 homolog (Drosophila)"""					16428443, 21304275	Standard	NM_015534		Approved	DKFZP564I052, ATAC1	uc001dhq.3	Q8IYH5	OTTHUMG00000009652		1.37:g.78030077A>C			B7WPC6|Q6N004|Q6N070|Q8IYP0|Q8IYR1|Q8TEK4|Q9Y4U0	RNA	SNP	-	NULL	ENST00000370801.3	37	NULL	CCDS677.1	1																																																																																			ZZZ3	-	-	ENSG00000036549		0.294	ZZZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZZ3	HGNC	protein_coding	OTTHUMT00000026615.1	-	0.00	12	0	A	NM_015534		78030077	-1	tier1	-	no_errors	ENST00000481346	ensembl	human	known	74_37	rna	58.33	5	7	SNP	0.193	C
