#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_EVS_AA	i_EVS_All	i_EVS_EA	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_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AMOTL1	154810	genome.wustl.edu	37	11	94533105	94533105	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr11:94533105T>A	ENST00000433060.2	+	3	890	c.749T>A	c.(748-750)cTg>cAg	p.L250Q	AMOTL1_ENST00000317829.8_Missense_Mutation_p.L200Q|AMOTL1_ENST00000317837.9_Missense_Mutation_p.L250Q	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	250					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GACGAGGCGCTGAAGGAACTG	0.622																																						dbGAP											0													38.0	41.0	40.0					11																	94533105		2066	4210	6276	-	-	-	SO:0001583	missense	0			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.749T>A	11.37:g.94533105T>A	ENSP00000387739:p.Leu250Gln		Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.L250Q	ENST00000433060.2	37	c.749	CCDS44712.1	11	.	.	.	.	.	.	.	.	.	.	T	17.62	3.435073	0.62955	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000317837;ENST00000433060	T;T;T	0.48201	0.82;0.82;0.82	5.13	5.13	0.70059	.	0.106622	0.40728	N	0.001029	T	0.69806	0.3152	M	0.81942	2.565	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.986	T	0.73347	-0.4011	9	.	.	.	-19.1695	14.92	0.70829	0.0:0.0:0.0:1.0	.	200;250	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	Q	200;256;250;250	ENSP00000320968:L200Q;ENSP00000323474:L250Q;ENSP00000387739:L250Q	.	L	+	2	0	AMOTL1	94172753	1.000000	0.71417	0.957000	0.39632	0.900000	0.52787	5.967000	0.70403	1.939000	0.56221	0.454000	0.30748	CTG	AMOTL1	-	NULL	ENSG00000166025		0.622	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	37	0.00	0	T	NM_130847		94533105	94533105	+1	no_errors	ENST00000433060	ensembl	human	known	69_37n	missense	10	58.33	14	SNP	1.000	A
BEX4	56271	genome.wustl.edu	37	X	102471238	102471238	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chrX:102471238G>A	ENST00000372695.5	+	3	392	c.157G>A	c.(157-159)Ggg>Agg	p.G53R	BEX4_ENST00000372691.3_Missense_Mutation_p.G53R	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	53						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						TATCAGGCGGGGGCGAGTTAG	0.522																																						dbGAP											0													64.0	60.0	61.0					X																	102471238		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL035494	CCDS35355.1	Xq22.1-q22.3	2014-03-21	2008-11-04	2007-08-24	ENSG00000102409	ENSG00000102409			25475	protein-coding gene	gene with protein product		300692	"""brain expressed X-linked-like 1"", ""BEX family member 4"""	BEXL1		15958283, 16221301	Standard	NM_001080425		Approved	FLJ10097	uc004ejw.4	Q9NWD9	OTTHUMG00000022091	ENST00000372695.5:c.157G>A	X.37:g.102471238G>A	ENSP00000361780:p.Gly53Arg			Missense_Mutation	SNP	pfam_TF_A-like/BEX-like,pirsf_BEX	p.G53R	ENST00000372695.5	37	c.157	CCDS35355.1	X	.	.	.	.	.	.	.	.	.	.	G	15.91	2.972229	0.53614	.	.	ENSG00000102409	ENST00000372695;ENST00000372691	T;T	0.44881	0.91;0.91	3.85	-0.197	0.13228	.	0.179461	0.27289	N	0.020049	T	0.33556	0.0867	M	0.66939	2.045	0.09310	N	1	B	0.20887	0.049	B	0.20577	0.03	T	0.22521	-1.0214	10	0.42905	T	0.14	.	3.9645	0.09424	0.2483:0.3846:0.3671:0.0	.	53	Q9NWD9	BEX4_HUMAN	R	53	ENSP00000361780:G53R;ENSP00000361776:G53R	ENSP00000361776:G53R	G	+	1	0	BEX4	102357894	0.000000	0.05858	0.000000	0.03702	0.749000	0.42624	0.084000	0.14891	-0.168000	0.10853	0.600000	0.82982	GGG	BEX4	-	pfam_TF_A-like/BEX-like,pirsf_BEX	ENSG00000102409		0.522	BEX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEX4	HGNC	protein_coding	OTTHUMT00000057694.1	48	0.00	0	G	XM_043653		102471238	102471238	+1	no_errors	ENST00000372691	ensembl	human	known	69_37n	missense	48	39.24	31	SNP	0.000	A
ATP6AP1	537	genome.wustl.edu	37	X	153657488	153657488	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chrX:153657488C>A	ENST00000369762.2	+	2	317	c.256C>A	c.(256-258)Ccc>Acc	p.P86T		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	86					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAGCTGGGTCCCAGGAATGT	0.657																																						dbGAP											0													92.0	84.0	87.0					X																	153657488		2203	4300	6503	-	-	-	SO:0001583	missense	0			D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.256C>A	X.37:g.153657488C>A	ENSP00000358777:p.Pro86Thr		A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	pfam_BIG/ATPase_V1_suS1	p.P86T	ENST00000369762.2	37	c.256	CCDS35451.1	X	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346612	0.82022	.	.	ENSG00000071553	ENST00000369762;ENST00000422890;ENST00000449556	.	.	.	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.76140	0.3946	M	0.75777	2.31	0.47341	D	0.999396	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.995	T	0.74466	-0.3656	9	0.27082	T	0.32	-30.8752	12.8454	0.57827	0.0:1.0:0.0:0.0	.	46;86	B3KR70;Q15904	.;VAS1_HUMAN	T	86	.	ENSP00000358777:P86T	P	+	1	0	ATP6AP1	153310682	1.000000	0.71417	0.964000	0.40570	0.945000	0.59286	5.847000	0.69451	2.087000	0.62958	0.529000	0.55759	CCC	ATP6AP1	-	pfam_BIG/ATPase_V1_suS1	ENSG00000071553		0.657	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP1	HGNC	protein_coding	OTTHUMT00000081639.4	25	0.00	0	C	NM_001183		153657488	153657488	+1	no_errors	ENST00000369762	ensembl	human	known	69_37n	missense	37	38.33	23	SNP	0.983	A
CIDEB	27141	genome.wustl.edu	37	14	24775709	24775710	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr14:24775709_24775710insT	ENST00000336557.5	-	6	1508_1509	c.206_207insA	c.(205-207)ctgfs	p.L69fs	CIDEB_ENST00000554411.1_Frame_Shift_Ins_p.L69fs|NOP9_ENST00000267425.3_3'UTR|CIDEB_ENST00000258807.5_Frame_Shift_Ins_p.L69fs|LTB4R2_ENST00000528054.1_5'Flank			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	69	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		GCACTCCATTCAGCAGTAGGGT	0.55																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.206_207insA	14.37:g.24775709_24775710insT	ENSP00000337731:p.Leu69fs		D3DS73|Q546V8|Q9NNW9	Frame_Shift_Ins	INS	pfam_CAD,smart_CAD,pfscan_CAD	p.N70fs	ENST00000336557.5	37	c.207_206	CCDS32056.1	14																																																																																			CIDEB	-	pfam_CAD,smart_CAD,pfscan_CAD	ENSG00000136305		0.550	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIDEB	HGNC	protein_coding	OTTHUMT00000414120.1	84	0.00	0	-			24775709	24775710	-1	no_errors	ENST00000258807	ensembl	human	known	69_37n	frame_shift_ins	126	18.71	29	INS	0.974:1.000	T
CIDEB	27141	genome.wustl.edu	37	14	24775714	24775715	+	Missense_Mutation	DNP	GT	GT	CC			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	G|T	G|T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr14:24775714_24775715GT>CC	ENST00000336557.5	-	6	1503_1504	c.201_202AC>GG	c.(199-204)ctACtg>ctGGtg	p.L68V	CIDEB_ENST00000554411.1_Missense_Mutation_p.L68V|NOP9_ENST00000267425.3_3'UTR|CIDEB_ENST00000258807.5_Missense_Mutation_p.L68V|LTB4R2_ENST00000528054.1_5'Flank			Q9UHD4	CIDEB_HUMAN	cell death-inducing DFFA-like effector b	68	CIDE-N. {ECO:0000255|PROSITE- ProRule:PRU00447}.				apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|regulation of apoptotic process (GO:0042981)	cytosol (GO:0005829)|lipid particle (GO:0005811)	identical protein binding (GO:0042802)			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0181)		CCATTCAGCAGTAGGGTCTCCA	0.545																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF190901	CCDS32056.1	14q12	2012-09-20			ENSG00000136305	ENSG00000136305			1977	protein-coding gene	gene with protein product		604441				10619428, 10837461	Standard	XM_005267540		Approved		uc001woo.3	Q9UHD4	OTTHUMG00000171555	ENST00000336557.5:c.201_202delinsCC	14.37:g.24775714_24775715delinsCC	ENSP00000337731:p.Leu68Val		D3DS73|Q546V8|Q9NNW9	Missense_Mutation|Silent	SNP	pfam_CAD,smart_CAD,pfscan_CAD	p.L68V|p.L67	ENST00000336557.5	37	c.202|c.201	CCDS32056.1	14																																																																																			CIDEB	-	pfam_CAD,smart_CAD,pfscan_CAD	ENSG00000136305		0.545	CIDEB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CIDEB	HGNC	protein_coding	OTTHUMT00000414120.1	89|87	0.00	0	G|T			24775714|24775715	24775714|24775715	-1	no_errors	ENST00000258807	ensembl	human	known	69_37n	missense|silent	121|120	18.24|16.67	27|24	SNP	1.000	C
COL6A5	256076	genome.wustl.edu	37	3	130159404	130159407	+	Frame_Shift_Del	DEL	CTAT	CTAT	-	rs537759936		TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	CTAT	CTAT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr3:130159404_130159407delCTAT	ENST00000432398.2	+	35	6716_6719	c.6222_6225delCTAT	c.(6220-6225)ccctatfs	p.PY2074fs	COL6A5_ENST00000265379.6_Frame_Shift_Del_p.PY2074fs	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2074	Nonhelical region.|VWFA 9. {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 region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAGAAACACCCTATCTAAGAAAAC	0.407																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6222_6225delCTAT	3.37:g.130159404_130159407delCTAT	ENSP00000390895:p.Pro2074fs		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Frame_Shift_Del	DEL	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.Y2075fs	ENST00000432398.2	37	c.6222_6225		3																																																																																			COL6A5	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000172752		0.407	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		78	0.00	0	CTAT	NM_153264		130159404	130159407	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	frame_shift_del	83	35.16	45	DEL	0.000:0.000:0.004:0.000	-
ETV5	2119	genome.wustl.edu	37	3	185783693	185783693	+	Missense_Mutation	SNP	A	A	T	rs139774137		TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr3:185783693A>T	ENST00000306376.5	-	8	1065	c.819T>A	c.(817-819)caT>caA	p.H273Q	ETV5_ENST00000480706.1_5'Flank|ETV5_ENST00000434744.1_Missense_Mutation_p.H273Q|ETV5_ENST00000537818.1_Missense_Mutation_p.H315Q	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	273					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|locomotory behavior (GO:0007626)|male germ-line stem cell asymmetric division (GO:0048133)|neuromuscular synaptic transmission (GO:0007274)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in mammary gland duct morphogenesis (GO:0060762)|regulation of synapse organization (GO:0050807)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			CCGGGACCCCATGTTCATAGA	0.577			T	"""TMPRSS2, SCL45A3"""	Prostate																																	dbGAP		Dom	yes		3	3q28	2119	ets variant gene 5		E	0													72.0	81.0	78.0					3																	185783693		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007333	CCDS33906.1	3q28	2008-09-12	2008-09-12		ENSG00000244405	ENSG00000244405			3494	protein-coding gene	gene with protein product	"""ets-related molecule"""	601600	"""ets variant gene 5 (ets-related molecule)"""			8152800	Standard	NM_004454		Approved	ERM	uc003fpz.3	P41161	OTTHUMG00000156639	ENST00000306376.5:c.819T>A	3.37:g.185783693A>T	ENSP00000306894:p.His273Gln		A6NH46|B7Z7D7|Q6IBN5	Missense_Mutation	SNP	pfam_ETS_PEA3_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.H315Q	ENST00000306376.5	37	c.945	CCDS33906.1	3	.	.	.	.	.	.	.	.	.	.	A	3.212	-0.161367	0.06502	.	.	ENSG00000244405	ENST00000306376;ENST00000434744;ENST00000537818	T;T;T	0.19938	2.11;2.11;2.11	6.17	-9.56	0.00566	PEA3-type ETS-domain transcription factor, N-terminal (1);	0.168310	0.56097	D	0.000040	T	0.08802	0.0218	N	0.10782	0.045	0.25125	N	0.990615	B;B	0.26775	0.001;0.159	B;B	0.27887	0.007;0.084	T	0.09271	-1.0682	10	0.08837	T	0.75	.	20.9203	0.99941	0.297:0.0:0.703:0.0	.	273;315	P41161;B7Z7D7	ETV5_HUMAN;.	Q	273;273;315	ENSP00000306894:H273Q;ENSP00000413755:H273Q;ENSP00000441737:H315Q	ENSP00000306894:H273Q	H	-	3	2	ETV5	187266387	0.000000	0.05858	0.510000	0.27712	0.614000	0.37383	-2.326000	0.01114	-1.871000	0.01138	-1.000000	0.02509	CAT	ETV5	-	pfam_ETS_PEA3_N	ENSG00000244405		0.577	ETV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV5	HGNC	protein_coding	OTTHUMT00000344947.1	38	0.00	0	A	NM_004454		185783693	185783693	-1	no_errors	ENST00000537818	ensembl	human	known	69_37n	missense	47	31.43	22	SNP	0.076	T
FAN1	22909	genome.wustl.edu	37	15	31206233	31206233	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr15:31206233T>A	ENST00000362065.4	+	5	2041	c.1750T>A	c.(1750-1752)Ttt>Att	p.F584I		NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	584					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)			autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CCGAATGGAGTTTCCTAGTTA	0.448								Direct reversal of damage																														dbGAP											0													134.0	126.0	129.0					15																	31206233		2202	4300	6502	-	-	-	SO:0001583	missense	0				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.1750T>A	15.37:g.31206233T>A	ENSP00000354497:p.Phe584Ile		A8K4M2|Q86WU8	Missense_Mutation	SNP	pfam_VRR_NUC,smart_Znf_Rad18_put	p.F584I	ENST00000362065.4	37	c.1750	CCDS32186.1	15	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299796	0.81136	.	.	ENSG00000198690	ENST00000362065	T	0.41065	1.01	5.79	5.79	0.91817	.	0.047002	0.85682	D	0.000000	T	0.67924	0.2945	M	0.84846	2.72	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.974;0.981	T	0.73808	-0.3866	10	0.87932	D	0	-26.1276	14.6886	0.69068	0.0:0.0:0.0:1.0	.	584;584	Q9Y2M0;D9MXF4	FAN1_HUMAN;.	I	584	ENSP00000354497:F584I	ENSP00000354497:F584I	F	+	1	0	FAN1	28993525	1.000000	0.71417	0.641000	0.29422	0.365000	0.29674	7.698000	0.84413	2.211000	0.71520	0.460000	0.39030	TTT	FAN1	-	NULL	ENSG00000198690		0.448	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	42	0.00	0	T	NM_014967		31206233	31206233	+1	no_errors	ENST00000362065	ensembl	human	known	69_37n	missense	124	33.69	63	SNP	1.000	A
FOXD4L3	286380	genome.wustl.edu	37	9	70918829	70918829	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr9:70918829A>T	ENST00000342833.2	+	1	1554	c.962A>T	c.(961-963)gAt>gTt	p.D321V		NM_199135.4	NP_954586.4	Q6VB84	FX4L3_HUMAN	forkhead box D4-like 3	321						nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			ovary(1)	1				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		CGGGAGGCGGATGCATCTCTT	0.657																																						dbGAP											0													20.0	26.0	24.0					9																	70918829		1496	3164	4660	-	-	-	SO:0001583	missense	0			AY344642	CCDS43833.1	9q13	2008-05-13				ENSG00000187559			18523	protein-coding gene	gene with protein product		611086				12421752	Standard	NM_199135		Approved	OTTHUMG00000019959, FOXD6	uc004agm.1	Q6VB84	OTTHUMG00000019959	ENST00000342833.2:c.962A>T	9.37:g.70918829A>T	ENSP00000341961:p.Asp321Val		Q5JTX9	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.D321V	ENST00000342833.2	37	c.962	CCDS43833.1	9	.	.	.	.	.	.	.	.	.	.	.	9.694	1.152636	0.21371	.	.	ENSG00000187559	ENST00000342833	D	0.96651	-4.08	4.04	-1.94	0.07571	.	2.616440	0.02876	U	0.132332	D	0.90133	0.6917	N	0.14661	0.345	0.22479	N	0.999061	B	0.14438	0.01	B	0.10450	0.005	T	0.80812	-0.1215	10	0.72032	D	0.01	.	1.9553	0.03375	0.281:0.1484:0.4236:0.1469	.	321	Q6VB84	FX4L3_HUMAN	V	321	ENSP00000341961:D321V	ENSP00000341961:D321V	D	+	2	0	FOXD4L3	70108649	0.000000	0.05858	0.175000	0.22980	0.251000	0.25915	-0.127000	0.10547	-0.257000	0.09459	0.374000	0.22700	GAT	FOXD4L3	-	NULL	ENSG00000187559		0.657	FOXD4L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L3	HGNC	protein_coding	OTTHUMT00000052539.2	38	0.00	0	A	NM_199358		70918829	70918829	+1	no_errors	ENST00000342833	ensembl	human	known	69_37n	missense	23	30.30	10	SNP	0.110	T
GOLGA6L2	283685	genome.wustl.edu	37	15	23685826	23685828	+	In_Frame_Del	DEL	TCT	TCT	-	rs372813065		TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	TCT	TCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr15:23685826_23685828delTCT	ENST00000567107.1	-	8	1846_1848	c.1794_1796delAGA	c.(1792-1797)gaagat>gat	p.E598del	GOLGA6L2_ENST00000345070.5_Intron|GOLGA6L2_ENST00000312015.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	0										breast(1)|endometrium(7)	8						tgctgccacatcttcttctgctc	0.581																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.1794_1796delAGA	15.37:g.23685832_23685834delTCT	ENSP00000454407:p.Glu598del		A1L301	In_Frame_Del	DEL	NULL	p.E598in_frame_del	ENST00000567107.1	37	c.1796_1794		15																																																																																			GOLGA6L2	-	NULL	ENSG00000174450		0.581	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	11	0.00	0	TCT	NM_182561		23685826	23685828	-1	no_errors	ENST00000567107	ensembl	human	putative	69_37n	in_frame_del	24	33.33	12	DEL	0.000:0.000:0.000	-
HNRNPUL2	221092	genome.wustl.edu	37	11	62487502	62487502	+	Silent	SNP	C	C	T			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr11:62487502C>T	ENST00000301785.5	-	10	1965	c.1773G>A	c.(1771-1773)gaG>gaA	p.E591E	HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.E591E	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	591						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CACCTTTCATCTCCAGCATTA	0.418																																						dbGAP											0													182.0	183.0	183.0					11																	62487502		1963	4140	6103	-	-	-	SO:0001819	synonymous_variant	0				CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1773G>A	11.37:g.62487502C>T			Q8N3B3	Silent	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,pfam_Chromatin_KTI12,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.E591	ENST00000301785.5	37	c.1773	CCDS41659.1	11																																																																																			HNRNPUL2	-	pfam_Chromatin_KTI12	ENSG00000214753		0.418	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL2	HGNC	protein_coding	OTTHUMT00000396208.2	147	0.00	0	C	XM_495877		62487502	62487502	-1	no_errors	ENST00000301785	ensembl	human	known	69_37n	silent	129	75.33	397	SNP	1.000	T
IBTK	25998	genome.wustl.edu	37	6	82924534	82924534	+	Silent	SNP	A	A	G			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr6:82924534A>G	ENST00000306270.7	-	12	2163	c.1614T>C	c.(1612-1614)atT>atC	p.I538I	IBTK_ENST00000503631.1_Intron|IBTK_ENST00000510291.1_Silent_p.I538I	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	538					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		ACACAGCTGGAATTTCATAAA	0.353																																						dbGAP											0													69.0	71.0	70.0					6																	82924534		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.1614T>C	6.37:g.82924534A>G			Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Silent	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.I538	ENST00000306270.7	37	c.1614	CCDS34490.1	6																																																																																			IBTK	-	superfamily_BTB/POZ_fold	ENSG00000005700		0.353	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2	31	0.00	0	A	NM_015525		82924534	82924534	-1	no_errors	ENST00000306270	ensembl	human	known	69_37n	silent	34	39.29	22	SNP	1.000	G
ITGA4	3676	genome.wustl.edu	37	2	182339788	182339788	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr2:182339788A>G	ENST00000397033.2	+	3	851	c.421A>G	c.(421-423)Atc>Gtc	p.I141V	ITGA4_ENST00000339307.4_Missense_Mutation_p.I141V|ITGA4_ENST00000478440.1_3'UTR	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	141					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	AAATGGATCCATCGTGGTAGG	0.448																																						dbGAP											0													89.0	89.0	89.0					2																	182339788		1922	4142	6064	-	-	-	SO:0001583	missense	0				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.421A>G	2.37:g.182339788A>G	ENSP00000380227:p.Ile141Val		D3DPG4|Q7Z4L6	Missense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.I141V	ENST00000397033.2	37	c.421	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	A	6.663	0.490851	0.12702	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	T;T;T	0.71222	0.45;-0.55;-0.55	5.43	0.203	0.15195	.	0.222720	0.43747	N	0.000522	T	0.41236	0.1150	N	0.13371	0.34	0.19300	N	0.999976	B;B	0.24043	0.011;0.096	B;B	0.21360	0.034;0.018	T	0.12941	-1.0528	10	0.12430	T	0.62	.	2.189	0.03894	0.5674:0.1193:0.1985:0.1148	.	141;141	E7EP60;P13612	.;ITA4_HUMAN	V	141	ENSP00000340149:I141V;ENSP00000380227:I141V;ENSP00000233573:I141V	ENSP00000233573:I141V	I	+	1	0	ITGA4	182048033	0.831000	0.29352	0.066000	0.19879	0.948000	0.59901	1.752000	0.38349	-0.121000	0.11787	0.533000	0.62120	ATC	ITGA4	-	NULL	ENSG00000115232		0.448	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	73	0.00	0	A			182339788	182339788	+1	no_errors	ENST00000397033	ensembl	human	known	69_37n	missense	76	33.91	39	SNP	0.138	G
KDM2A	22992	genome.wustl.edu	37	11	66995613	66995613	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr11:66995613C>T	ENST00000529006.2	+	11	1509	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Nonsense_Mutation_p.Q355*	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	355					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TAAGGAATTTCAGAAAGAGTC	0.453																																						dbGAP											0													159.0	152.0	154.0					11																	66995613		1884	4117	6001	-	-	-	SO:0001587	stop_gained	0			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.1063C>T	11.37:g.66995613C>T	ENSP00000432786:p.Gln355*		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Nonsense_Mutation	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.Q355*	ENST00000529006.2	37	c.1063	CCDS44657.1	11	.	.	.	.	.	.	.	.	.	.	C	46	12.581688	0.99680	.	.	ENSG00000173120	ENST00000398645;ENST00000529006	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-17.9909	19.5254	0.95203	0.0:1.0:0.0:0.0	.	.	.	.	X	355	.	ENSP00000381640:Q355X	Q	+	1	0	KDM2A	66752189	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.736000	0.68597	2.857000	0.98124	0.650000	0.86243	CAG	KDM2A	-	NULL	ENSG00000173120		0.453	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	58	0.00	0	C	NM_012308		66995613	66995613	+1	no_errors	ENST00000529006	ensembl	human	known	69_37n	nonsense	134	66.33	266	SNP	1.000	T
NCAM1	4684	genome.wustl.edu	37	11	113140924	113140924	+	Missense_Mutation	SNP	A	A	C	rs201796555		TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr11:113140924A>C	ENST00000316851.7	+	16	2116	c.2116A>C	c.(2116-2118)Acc>Ccc	p.T706P	NCAM1-AS1_ENST00000533638.1_RNA|NCAM1_ENST00000397957.4_3'UTR|NCAM1-AS1_ENST00000526229.1_RNA	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	716	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CGGCAGCCCCACCTCAGGCCT	0.607																																						dbGAP											0													107.0	125.0	119.0					11																	113140924		2115	4249	6364	-	-	-	SO:0001583	missense	0				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000316851.7:c.2116A>C	11.37:g.113140924A>C	ENSP00000318472:p.Thr706Pro		A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Splice_Site	SNP	-	NULL	ENST00000316851.7	37	c.NULL		11	.	.	.	.	.	.	.	.	.	.	A	15.96	2.987289	0.53934	.	.	ENSG00000149294	ENST00000531044;ENST00000316851;ENST00000433634	T	0.66460	-0.21	5.53	4.41	0.53225	.	0.151029	0.40222	U	0.001149	T	0.49423	0.1556	.	.	.	0.41592	D	0.988809	B;P;B	0.41265	0.337;0.744;0.003	B;B;B	0.32864	0.046;0.154;0.001	T	0.42982	-0.9419	9	0.25751	T	0.34	-9.2405	10.0048	0.41951	0.8594:0.0:0.1406:0.0	.	588;706;716	E9PLH7;P13591-1;P13591	.;.;NCAM1_HUMAN	P	588;706;171	ENSP00000318472:T706P	ENSP00000318472:T706P	T	+	1	0	NCAM1	112646134	0.998000	0.40836	0.984000	0.44739	0.963000	0.63663	2.354000	0.44098	0.924000	0.37069	0.460000	0.39030	ACC	RP11-839D17.2	-	-	ENSG00000227487		0.607	NCAM1-201	KNOWN	basic	protein_coding	LOC100288346	Clone_based_vega_gene	protein_coding		60	0.00	0	A	NM_000615		113140924	113140924	-1	no_errors	ENST00000533638	ensembl	human	putative	69_37n	splice_site	43	26.67	16	SNP	0.954	C
LRP1	4035	genome.wustl.edu	37	12	57589072	57589072	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr12:57589072C>T	ENST00000243077.3	+	52	8793	c.8327C>T	c.(8326-8328)cCc>cTc	p.P2776L	MIR1228_ENST00000408438.1_RNA	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2776	LDL-receptor class A 17. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACGTGCGGCCCCTCCTCCTTC	0.622																																						dbGAP											0													125.0	131.0	129.0					12																	57589072		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.8327C>T	12.37:g.57589072C>T	ENSP00000243077:p.Pro2776Leu		Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.P2776L	ENST00000243077.3	37	c.8327	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764735	0.69878	.	.	ENSG00000123384	ENST00000243077	D	0.95918	-3.85	4.82	4.82	0.62117	.	0.000000	0.64402	D	0.000001	D	0.93897	0.8047	L	0.57130	1.785	0.80722	D	1	B	0.21381	0.055	B	0.23852	0.049	D	0.91559	0.5263	10	0.37606	T	0.19	.	16.8286	0.85938	0.0:1.0:0.0:0.0	.	2776	Q07954	LRP1_HUMAN	L	2776	ENSP00000243077:P2776L	ENSP00000243077:P2776L	P	+	2	0	LRP1	55875339	0.370000	0.25047	1.000000	0.80357	0.972000	0.66771	3.875000	0.56108	2.493000	0.84123	0.462000	0.41574	CCC	LRP1	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt	ENSG00000123384		0.622	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	20	0.00	0	C	NM_002332		57589072	57589072	+1	no_errors	ENST00000243077	ensembl	human	known	69_37n	missense	37	43.08	28	SNP	1.000	T
MAP2K4	6416	genome.wustl.edu	37	17	12016616	12016616	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr17:12016616G>T	ENST00000353533.5	+	7	815	c.752G>T	c.(751-753)aGt>aTt	p.S251I	MAP2K4_ENST00000581941.1_3'UTR|MAP2K4_ENST00000415385.3_Missense_Mutation_p.S262I	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		S -> N (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.S251N(1)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TTCGGCATCAGTGGACAGCTT	0.413			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	12	Whole gene deletion(10)|Substitution - Missense(1)|Unknown(1)	breast(4)|ovary(4)|biliary_tract(1)|large_intestine(1)|skin(1)|pancreas(1)											105.0	102.0	103.0					17																	12016616		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.752G>T	17.37:g.12016616G>T	ENSP00000262445:p.Ser251Ile		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_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_cat_dom	p.S262I	ENST00000353533.5	37	c.785	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663716	0.88251	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.70631	-0.5;-0.5	4.41	4.41	0.53225	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.86184	0.5872	M	0.88377	2.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.89279	0.3610	10	0.87932	D	0	.	15.9715	0.80025	0.0:0.0:1.0:0.0	.	123;262;251	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	I	251;262;228;123	ENSP00000262445:S251I;ENSP00000410402:S262I	ENSP00000262445:S251I	S	+	2	0	MAP2K4	11957341	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.657000	0.98554	2.297000	0.77311	0.591000	0.81541	AGT	MAP2K4	-	pfam_Prot_kinase_cat_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_cat_dom	ENSG00000065559		0.413	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	67	0.00	0	G			12016616	12016616	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	missense	18	62.50	30	SNP	1.000	T
MYO6	4646	genome.wustl.edu	37	6	76538265	76538265	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr6:76538265A>T	ENST00000369977.3	+	4	335	c.196A>T	c.(196-198)Atg>Ttg	p.M66L	MYO6_ENST00000369975.1_Missense_Mutation_p.M66L|MYO6_ENST00000369985.4_Missense_Mutation_p.M66L|MYO6_ENST00000369981.3_Missense_Mutation_p.M66L	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	66	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AGGTTCACTAATGTATTTAAA	0.279																																						dbGAP											0													85.0	94.0	91.0					6																	76538265		2201	4294	6495	-	-	-	SO:0001583	missense	0			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.196A>T	6.37:g.76538265A>T	ENSP00000358994:p.Met66Leu		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.M66L	ENST00000369977.3	37	c.196	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	A	24.5	4.534742	0.85812	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.89972	0.6870	L	0.58583	1.82	0.80722	D	1	D;P	0.64830	0.994;0.47	D;P	0.75484	0.986;0.592	D	0.89392	0.3689	10	0.38643	T	0.18	.	15.6234	0.76829	1.0:0.0:0.0:0.0	.	66;66	Q9UM54-2;Q9UM54-1	.;.	L	66	ENSP00000358998:M66L;ENSP00000359002:M66L;ENSP00000358994:M66L;ENSP00000358992:M66L	ENSP00000358992:M66L	M	+	1	0	MYO6	76594985	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.700000	0.91322	2.097000	0.63578	0.460000	0.39030	ATG	MYO6	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000196586		0.279	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	197	0.00	0	A	NM_004999		76538265	76538265	+1	no_errors	ENST00000369981	ensembl	human	known	69_37n	missense	114	34.10	59	SNP	1.000	T
MCM9	254394	genome.wustl.edu	37	6	119245057	119245057	+	Silent	SNP	G	G	A			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr6:119245057G>A	ENST00000316316.6	-	3	826	c.540C>T	c.(538-540)tcC>tcT	p.S180S	MCM9_ENST00000316068.3_Silent_p.S180S	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	180					cellular response to DNA damage stimulus (GO:0006974)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|female gamete generation (GO:0007292)	MCM8-MCM9 complex (GO:0097362)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		TGAATTTAGAGGAATCACAGC	0.443																																						dbGAP											0													122.0	114.0	117.0					6																	119245057		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC031658	CCDS5121.1, CCDS56447.1	6q22.31	2009-11-16	2007-04-04	2007-04-04	ENSG00000111877	ENSG00000111877			21484	protein-coding gene	gene with protein product		610098	"""minichromosome maintenance deficient domain containing 1"", ""chromosome 6 open reading frame 61"""	MCMDC1, C6orf61		16226853, 15850810, 16495042	Standard	NM_153255		Approved	MGC35304, dJ329L24.3, FLJ20170	uc021zeh.1	Q9NXL9	OTTHUMG00000015468	ENST00000316316.6:c.540C>T	6.37:g.119245057G>A			B4DR30|B9DI77|Q2KHJ0|Q8N5S5|Q9HCV5	Silent	SNP	pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase	p.S180	ENST00000316316.6	37	c.540	CCDS56447.1	6																																																																																			MCM9	-	superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase	ENSG00000111877		0.443	MCM9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM9	HGNC	protein_coding	OTTHUMT00000042005.4	44	0.00	0	G	NM_153255		119245057	119245057	-1	no_errors	ENST00000316316	ensembl	human	known	69_37n	silent	73	37.07	43	SNP	0.625	A
MYOF	26509	genome.wustl.edu	37	10	95085598	95085598	+	Silent	SNP	C	C	T			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr10:95085598C>T	ENST00000359263.4	-	46	5255	c.5256G>A	c.(5254-5256)caG>caA	p.Q1752Q	MYOF_ENST00000371501.4_Silent_p.Q1752Q|MYOF_ENST00000371502.4_Silent_p.Q1771Q|MYOF_ENST00000485212.1_5'UTR|MYOF_ENST00000358334.5_Silent_p.Q1739Q	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	1752					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAATGTTGGGCTGGAAGGTGC	0.542																																						dbGAP											0													159.0	165.0	163.0					10																	95085598		1964	4146	6110	-	-	-	SO:0001819	synonymous_variant	0			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.5256G>A	10.37:g.95085598C>T			B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Missense_Mutation	SNP	pfam_Ferlin_B-domain,pfam_C2_Ca-dep,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peroxin/Ferlin,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S1146N	ENST00000359263.4	37	c.3437	CCDS41551.1	10																																																																																			MYOF	-	NULL	ENSG00000138119		0.542	MYOF-005	KNOWN	basic|CCDS	protein_coding	MYOF	HGNC	protein_coding	OTTHUMT00000049423.2	100	0.00	0	C	NM_013451		95085598	95085598	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000463743	ensembl	human	known	69_37n	missense	61	47.86	56	SNP	1.000	T
OBP2B	29989	genome.wustl.edu	37	9	136083528	136083528	+	Missense_Mutation	SNP	T	T	A	rs3192921	byFrequency	TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr9:136083528T>A	ENST00000372034.3	-	3	310	c.269A>T	c.(268-270)tAc>tTc	p.Y90F	OBP2B_ENST00000372032.2_Silent_p.I45I|OBP2B_ENST00000461961.1_5'UTR	NM_014581.2	NP_055396.1	Q9NPH6	OBP2B_HUMAN	odorant binding protein 2B	90					chemosensory behavior (GO:0007635)|sensory perception of smell (GO:0007608)|transport (GO:0006810)	extracellular region (GO:0005576)	odorant binding (GO:0005549)			central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		ACAGGCGCTGTATTTGCCAGG	0.642																																						dbGAP											0													60.0	58.0	59.0					9																	136083528		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ251026	CCDS6961.1	9q34	2014-01-22			ENSG00000171102	ENSG00000171102		"""Lipocalins"""	23381	protein-coding gene	gene with protein product		604606					Standard	NM_001288987		Approved	hOBPIIb, LCN14	uc004ccz.3	Q9NPH6	OTTHUMG00000020860	ENST00000372034.3:c.269A>T	9.37:g.136083528T>A	ENSP00000361104:p.Tyr90Phe		Q5VSP6|Q9NY51|Q9NY52	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland,prints_PstgldnD_synth	p.Y90F	ENST00000372034.3	37	c.269	CCDS6961.1	9	.	.	.	.	.	.	.	.	.	.	A	0.025	-1.376984	0.01214	.	.	ENSG00000171102	ENST00000372034	T	0.06849	3.25	1.91	0.679	0.17975	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.188123	0.26062	N	0.026576	T	0.04543	0.0124	N	0.24115	0.695	0.19945	N	0.999945	B	0.33000	0.393	B	0.37731	0.257	T	0.39881	-0.9592	10	0.02654	T	1	-47.8449	5.6514	0.17618	0.2549:0.0:0.0:0.7451	rs3192921;rs17417803	90	Q9NPH6	OBP2B_HUMAN	F	90	ENSP00000361104:Y90F	ENSP00000361104:Y90F	Y	-	2	0	OBP2B	135073349	0.001000	0.12720	0.123000	0.21794	0.003000	0.03518	-0.353000	0.07691	-0.219000	0.10003	-1.992000	0.00449	TAC	OBP2B	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland	ENSG00000171102		0.642	OBP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBP2B	HGNC	protein_coding	OTTHUMT00000054851.1	35	0.00	0	T	NM_014581		136083528	136083528	-1	no_errors	ENST00000372034	ensembl	human	known	69_37n	missense	32	13.51	5	SNP	0.224	A
OR52B4	143496	genome.wustl.edu	37	11	4389301	4389301	+	Silent	SNP	G	G	A			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr11:4389301G>A	ENST00000408920.2	-	1	315	c.225C>T	c.(223-225)ctC>ctT	p.L75L		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	75					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCACGTGGAGAGGACAATGT	0.527																																						dbGAP											0													86.0	92.0	90.0					11																	4389301		2161	4266	6427	-	-	-	SO:0001819	synonymous_variant	0			AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.225C>T	11.37:g.4389301G>A			A6NP68|Q6IFK6	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.L75	ENST00000408920.2	37	c.225	CCDS41609.1	11																																																																																			OR52B4	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000221996		0.527	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52B4	HGNC	protein_coding	OTTHUMT00000334449.3	182	0.00	0	G	NM_001005161		4389301	4389301	-1	no_errors	ENST00000408920	ensembl	human	known	69_37n	silent	82	39.26	53	SNP	0.000	A
POM121	9883	genome.wustl.edu	37	7	72413443	72413443	+	Missense_Mutation	SNP	G	G	A	rs62463429	byFrequency	TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr7:72413443G>A	ENST00000434423.2	+	11	2911	c.2911G>A	c.(2911-2913)Gca>Aca	p.A971T	POM121_ENST00000446813.1_Missense_Mutation_p.A706T|POM121_ENST00000358357.3_Missense_Mutation_p.A706T|POM121_ENST00000257622.4_Missense_Mutation_p.A706T|POM121_ENST00000395270.1_Missense_Mutation_p.A706T			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	971	Pore side. {ECO:0000255}.			A -> T (in Ref. 3; BAB14097). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CCCCCAGCCCGCATTTGGGGC	0.642																																						dbGAP											0													13.0	19.0	17.0					7																	72413443		2073	4153	6226	-	-	-	SO:0001583	missense	0			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.2911G>A	7.37:g.72413443G>A	ENSP00000405562:p.Ala971Thr		A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Missense_Mutation	SNP	NULL	p.A971T	ENST00000434423.2	37	c.2911		7	806	0.36904761904761907	111	0.22560975609756098	135	0.3729281767955801	269	0.47027972027972026	291	0.3839050131926121	G	0.019	-1.453214	0.01071	.	.	ENSG00000196313	ENST00000446813;ENST00000257622;ENST00000395270;ENST00000358357;ENST00000434423	T;T;T;T;T	0.06849	3.25;3.27;3.25;3.27;3.54	2.33	-4.66	0.03329	.	1.040150	0.07705	N	0.941009	T	0.00012	0.0000	N	0.17838	0.53	0.80722	P	0.0	B;B	0.23650	0.089;0.008	B;B	0.16722	0.016;0.004	T	0.45396	-0.9264	9	0.25106	T	0.35	.	10.3771	0.44088	0.524:0.0:0.476:0.0	rs62463429	706;971	A8MXF9;Q96HA1	.;P121A_HUMAN	T	706;706;706;706;971	ENSP00000393020:A706T;ENSP00000257622:A706T;ENSP00000378687:A706T;ENSP00000351124:A706T;ENSP00000405562:A971T	ENSP00000257622:A706T	A	+	1	0	POM121	72051379	0.000000	0.05858	0.055000	0.19348	0.038000	0.13279	-1.922000	0.01568	-1.455000	0.01923	-1.195000	0.01675	GCA	POM121	-	NULL	ENSG00000196313		0.642	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	17	0.00	0	G			72413443	72413443	+1	no_errors	ENST00000434423	ensembl	human	known	69_37n	missense	42	27.59	16	SNP	0.007	A
PPARGC1A	10891	genome.wustl.edu	37	4	23816043	23816043	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr4:23816043A>T	ENST00000264867.2	-	8	1182	c.1063T>A	c.(1063-1065)Tat>Aat	p.Y355N	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	355	Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|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 stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.Y355H(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGTTGTGCATACAACTCGGAT	0.537																																					Esophageal Squamous(29;694 744 13796 34866 44181)	dbGAP											1	Substitution - Missense(1)	endometrium(1)											127.0	130.0	129.0					4																	23816043		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1063T>A	4.37:g.23816043A>T	ENSP00000264867:p.Tyr355Asn		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Y355N	ENST00000264867.2	37	c.1063	CCDS3429.1	4	.	.	.	.	.	.	.	.	.	.	A	21.7	4.184057	0.78677	.	.	ENSG00000109819	ENST00000264867	T	0.33654	1.4	6.16	6.16	0.99307	.	0.216261	0.50627	D	0.000118	T	0.63977	0.2557	M	0.81802	2.56	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.68116	-0.5494	10	0.87932	D	0	-4.9948	16.8061	0.85666	1.0:0.0:0.0:0.0	.	355	Q9UBK2	PRGC1_HUMAN	N	355	ENSP00000264867:Y355N	ENSP00000264867:Y355N	Y	-	1	0	PPARGC1A	23425141	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	8.690000	0.91272	2.367000	0.80283	0.528000	0.53228	TAT	PPARGC1A	-	NULL	ENSG00000109819		0.537	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	HGNC	protein_coding	OTTHUMT00000214976.1	90	0.00	0	A	NM_013261		23816043	23816043	-1	no_errors	ENST00000264867	ensembl	human	known	69_37n	missense	80	39.55	53	SNP	1.000	T
PRDX5	25824	genome.wustl.edu	37	11	64087239	64087239	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr11:64087239G>A	ENST00000265462.4	+	2	333	c.205G>A	c.(205-207)Gaa>Aaa	p.E69K	PRDX5_ENST00000352435.4_Missense_Mutation_p.E69K|TRMT112_ENST00000544844.1_5'Flank|TRMT112_ENST00000535750.1_5'Flank|TRMT112_ENST00000539854.1_5'Flank|TRMT112_ENST00000308774.2_5'Flank|PRDX5_ENST00000347941.4_Intron|TRMT112_ENST00000535126.1_5'Flank	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	69	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|inflammatory response (GO:0006954)|NADPH oxidation (GO:0070995)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|positive regulation of collagen biosynthetic process (GO:0032967)|reactive nitrogen species metabolic process (GO:2001057)|regulation of apoptosis involved in tissue homeostasis (GO:0060785)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	antioxidant activity (GO:0016209)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|peroxynitrite reductase activity (GO:0072541)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase III regulatory region DNA binding (GO:0001016)			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	GGAGGTGTTTGAAGGGGAGCC	0.587																																						dbGAP											0													154.0	143.0	147.0					11																	64087239		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF197952	CCDS8069.1, CCDS8070.1, CCDS8071.1	11q13	2008-07-21			ENSG00000126432	ENSG00000126432			9355	protein-coding gene	gene with protein product	"""antioxidant enzyme B166"", ""thioredoxin peroxidase PMP20"", ""peroxisomal antioxidant enzyme"", ""TPx type VI"", ""liver tissue 2D-page spot 71B"", ""Alu co-repressor 1"""	606583				10514471, 10521424	Standard	NM_012094		Approved	ACR1, AOEB166, MGC142285, PRXV, PMP20, B166, PRDX6, PLP, SBBI10, MGC117264, MGC142283	uc001nzu.3	P30044	OTTHUMG00000168805	ENST00000265462.4:c.205G>A	11.37:g.64087239G>A	ENSP00000265462:p.Glu69Lys		A6NC19|A6NG06|B7ZLJ4|B7ZVW3|Q14CK0|Q6IAF2|Q9UBU5|Q9UJU4|Q9UKX4	Missense_Mutation	SNP	pfam_Redoxin,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold	p.E69K	ENST00000265462.4	37	c.205	CCDS8069.1	11	.	.	.	.	.	.	.	.	.	.	G	26.3	4.723055	0.89298	.	.	ENSG00000126432	ENST00000265462;ENST00000352435	T;T	0.54675	0.73;0.56	4.35	4.35	0.52113	Redoxin (1);Thioredoxin-like fold (3);	0.000000	0.85682	D	0.000000	T	0.68906	0.3052	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.993;0.994	T	0.73206	-0.4056	10	0.87932	D	0	-16.9266	14.8197	0.70062	0.0:0.0:1.0:0.0	.	69;69	A6NG06;P30044	.;PRDX5_HUMAN	K	69	ENSP00000265462:E69K;ENSP00000335334:E69K	ENSP00000265462:E69K	E	+	1	0	PRDX5	63843815	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	8.626000	0.90969	2.163000	0.67991	0.456000	0.33151	GAA	PRDX5	-	pfam_Redoxin,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold	ENSG00000126432		0.587	PRDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX5	HGNC	protein_coding	OTTHUMT00000401148.1	23	0.00	0	G	NM_181651		64087239	64087239	+1	no_errors	ENST00000265462	ensembl	human	known	69_37n	missense	46	71.52	118	SNP	1.000	A
RET	5979	genome.wustl.edu	37	10	43613868	43613868	+	Missense_Mutation	SNP	G	G	A	rs75686697		TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr10:43613868G>A	ENST00000355710.3	+	13	2564	c.2332G>A	c.(2332-2334)Gtc>Atc	p.V778I	RET_ENST00000340058.5_Missense_Mutation_p.V778I	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	778	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> I (in a patient with renal agenesis; unknown pathological significance; constitutively phosphorylated; dbSNP:rs75686697). {ECO:0000269|PubMed:18252215}.		activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGAGTTCAACGTCCTGAAGCA	0.587		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	dbGAP	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	ret proto-oncogene	yes	"""E, O"""	0			GRCh37	CM022982	RET	M	rs75686697						62.0	55.0	58.0					10																	43613868		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.2332G>A	10.37:g.43613868G>A	ENSP00000347942:p.Val778Ile		A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin	p.V778I	ENST00000355710.3	37	c.2332	CCDS7200.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.127547	0.94473	.	.	ENSG00000165731	ENST00000355710;ENST00000340058	D;D	0.87809	-2.3;-2.3	5.58	5.58	0.84498	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76234	0.3959	N	0.04387	-0.21	0.24229	A	0.00459149	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.004;0.002	T	0.74665	-0.3589	9	0.72032	D	0.01	.	16.6946	0.85332	0.0:0.8703:0.1297:0.0	.	524;778;778	B4DGX8;P07949;P07949-2	.;RET_HUMAN;.	I	778	ENSP00000347942:V778I;ENSP00000344798:V778I	ENSP00000344798:V778I	V	+	1	0	RET	42933874	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	1.564000	0.36375	1.384000	0.46424	-0.120000	0.15030	GTC	RET	-	pirsf_Tyr_kinase_Ret_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000165731		0.587	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RET	HGNC	protein_coding	OTTHUMT00000047694.2	21	0.00	0	G	NM_020975		43613868	43613868	+1	no_errors	ENST00000355710	ensembl	human	known	69_37n	missense	32	38.46	20	SNP	1.000	A
RXRA	6256	genome.wustl.edu	37	9	137309085	137309085	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr9:137309085C>T	ENST00000481739.1	+	5	744	c.692C>T	c.(691-693)cCg>cTg	p.P231L	RXRA_ENST00000540193.1_Missense_Mutation_p.P134L|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	231	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)	p.P231L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	GAGGACATGCCGGTGGAGAGG	0.652																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											148.0	112.0	124.0					9																	137309085		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.692C>T	9.37:g.137309085C>T	ENSP00000419692:p.Pro231Leu		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_DUF3345,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoic_acid_rcpt	p.P231L	ENST00000481739.1	37	c.692	CCDS35172.1	9	.	.	.	.	.	.	.	.	.	.	C	33	5.217091	0.95104	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	T;T	0.39406	1.08;1.08	4.45	4.45	0.53987	Nuclear hormone receptor, ligand-binding (2);	0.000000	0.85682	D	0.000000	T	0.72162	0.3426	H	0.94886	3.595	0.80722	D	1	D;D	0.76494	0.996;0.999	P;P	0.62560	0.796;0.904	T	0.82808	-0.0274	10	0.87932	D	0	.	17.4351	0.87549	0.0:1.0:0.0:0.0	.	134;231	B3KY83;P19793	.;RXRA_HUMAN	L	231;134	ENSP00000419692:P231L;ENSP00000442123:P134L	ENSP00000419692:P231L	P	+	2	0	RXRA	136448906	1.000000	0.71417	0.983000	0.44433	0.865000	0.49528	7.377000	0.79668	2.157000	0.67596	0.462000	0.41574	CCG	RXRA	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000186350		0.652	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRA	HGNC	protein_coding	OTTHUMT00000054949.1	22	0.00	0	C	NM_002957		137309085	137309085	+1	no_errors	ENST00000481739	ensembl	human	known	69_37n	missense	36	42.86	27	SNP	1.000	T
S100P	6286	genome.wustl.edu	37	4	6695772	6695774	+	In_Frame_Del	DEL	AGA	AGA	-	rs4712		TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	AGA	AGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr4:6695772_6695774delAGA	ENST00000296370.3	+	1	977_979	c.113_115delAGA	c.(112-117)gagaag>gag	p.K39del	S100P_ENST00000513778.1_Intron|AC093323.1_ENST00000596858.1_5'Flank	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN	S100 calcium binding protein P	39	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				endothelial cell migration (GO:0043542)|response to organic substance (GO:0010033)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|magnesium ion binding (GO:0000287)			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicic acid(DB01003)	GTGCTGATGGAGAAGGAGCTACC	0.631																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			X65614	CCDS3391.1	4p16	2013-01-10	2001-11-28		ENSG00000163993	ENSG00000163993		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10504	protein-coding gene	gene with protein product		600614	"""S100 calcium-binding protein P"""			8341667, 7759097	Standard	NM_005980		Approved		uc003gjl.3	P25815	OTTHUMG00000090491	ENST00000296370.3:c.113_115delAGA	4.37:g.6695772_6695774delAGA	ENSP00000296370:p.Lys39del		Q5J7W2	In_Frame_Del	DEL	pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K39in_frame_del	ENST00000296370.3	37	c.113_115	CCDS3391.1	4																																																																																			S100P	-	pfam_S100_Ca-bd_sub	ENSG00000163993		0.631	S100P-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S100P	HGNC	protein_coding	OTTHUMT00000206979.1	18	0.00	0	AGA	NM_005980		6695772	6695774	+1	no_errors	ENST00000296370	ensembl	human	known	69_37n	in_frame_del	23	28.12	9	DEL	0.995:0.995:0.994	-
SERPINA12	145264	genome.wustl.edu	37	14	94964133	94964133	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr14:94964133A>G	ENST00000341228.2	-	3	1397	c.602T>C	c.(601-603)gTg>gCg	p.V201A	SERPINA12_ENST00000556881.1_Missense_Mutation_p.V201A	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	201					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		AAGAAGCATCACAGTGCCGGG	0.403																																						dbGAP											0													83.0	79.0	81.0					14																	94964133		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.602T>C	14.37:g.94964133A>G	ENSP00000342109:p.Val201Ala			Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.V201A	ENST00000341228.2	37	c.602	CCDS9926.1	14	.	.	.	.	.	.	.	.	.	.	A	10.84	1.465081	0.26335	.	.	ENSG00000165953	ENST00000556881;ENST00000341228	D;D	0.84223	-1.82;-1.82	5.49	4.37	0.52481	Serpin domain (3);	0.908945	0.09218	N	0.832264	T	0.74696	0.3750	L	0.31578	0.945	0.09310	N	1	B	0.30104	0.268	B	0.29353	0.101	T	0.61491	-0.7052	10	0.19590	T	0.45	.	5.6626	0.17676	0.7253:0.0:0.1092:0.1655	.	201	Q8IW75	SPA12_HUMAN	A	201	ENSP00000451738:V201A;ENSP00000342109:V201A	ENSP00000342109:V201A	V	-	2	0	SERPINA12	94033886	0.003000	0.15002	0.157000	0.22605	0.804000	0.45430	0.893000	0.28336	2.084000	0.62774	0.533000	0.62120	GTG	SERPINA12	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000165953		0.403	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA12	HGNC	protein_coding	OTTHUMT00000413097.1	75	0.00	0	A	NM_173850		94964133	94964133	-1	no_errors	ENST00000341228	ensembl	human	known	69_37n	missense	60	37.50	36	SNP	0.000	G
SH3BGRL	6451	genome.wustl.edu	37	X	80552725	80552725	+	Silent	SNP	G	G	A			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chrX:80552725G>A	ENST00000373212.5	+	4	602	c.344G>A	c.(343-345)tGa>tAa	p.*115*	SH3BGRL_ENST00000481106.1_3'UTR	NM_003022.2	NP_003013.1	O75368	SH3L1_HUMAN	SH3 domain binding glutamate-rich protein like	0					positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|lung(2)|ovary(1)	4		all_lung(315;5.94e-05)				CAGCAAGCATGAACCTTAAGC	0.353																																						dbGAP											0													110.0	95.0	100.0					X																	80552725		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF042081	CCDS14449.1	Xq13.3	2014-02-19	2014-02-19		ENSG00000131171	ENSG00000131171			10823	protein-coding gene	gene with protein product		300190	"""SH3 domain binding glutamic acid-rich protein like"""			9642120	Standard	NM_003022		Approved	MGC117402	uc004eef.3	O75368	OTTHUMG00000021910	ENST00000373212.5:c.344G>A	X.37:g.80552725G>A			Q3SYL1|Q5JT50|Q6FIE8|Q9H0N8	Silent	SNP	pfam_Glut_rich_SH3-bd,superfamily_Thioredoxin-like_fold	p.*115	ENST00000373212.5	37	c.344	CCDS14449.1	X																																																																																			SH3BGRL	-	NULL	ENSG00000131171		0.353	SH3BGRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3BGRL	HGNC	protein_coding	OTTHUMT00000057350.1	163	0.00	0	G	NM_003022		80552725	80552725	+1	no_errors	ENST00000373212	ensembl	human	known	69_37n	silent	75	42.31	55	SNP	0.982	A
SLC22A16	85413	genome.wustl.edu	37	6	110763635	110763635	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr6:110763635C>A	ENST00000368919.3	-	4	1061	c.995G>T	c.(994-996)gGt>gTt	p.G332V	RN7SL617P_ENST00000485298.2_RNA|SLC22A16_ENST00000439654.1_Missense_Mutation_p.G332V|SLC22A16_ENST00000330550.4_Missense_Mutation_p.G298V|SLC22A16_ENST00000456137.2_3'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	332					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	ACTAACAGGACCTTGTAGGTC	0.418																																						dbGAP											0													112.0	108.0	109.0					6																	110763635		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.995G>T	6.37:g.110763635C>A	ENSP00000357915:p.Gly332Val		O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.G332V	ENST00000368919.3	37	c.995	CCDS5084.1	6	.	.	.	.	.	.	.	.	.	.	C	11.69	1.712777	0.30413	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000330550;ENST00000439654;ENST00000434949;ENST00000437378	T;T;T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	4.78	-1.89	0.07689	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.441200	0.03646	N	0.240294	T	0.25269	0.0614	N	0.03324	-0.35	0.09310	N	1	P;P	0.43231	0.801;0.589	B;B	0.40636	0.335;0.226	T	0.10042	-1.0647	10	0.32370	T	0.25	.	7.4444	0.27203	0.0:0.3866:0.113:0.5003	.	332;298	Q86VW1;Q86VW1-2	S22AG_HUMAN;.	V	332;249;298;332;162;289	ENSP00000357915:G332V;ENSP00000395642:G249V;ENSP00000328583:G298V;ENSP00000408799:G332V;ENSP00000409306:G162V;ENSP00000416310:G289V	ENSP00000328583:G298V	G	-	2	0	SLC22A16	110870328	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.956000	0.03865	-0.704000	0.05042	-0.302000	0.09304	GGT	SLC22A16	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000004809		0.418	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A16	HGNC	protein_coding	OTTHUMT00000043428.1	123	0.00	0	C	NM_033125		110763635	110763635	-1	no_errors	ENST00000368919	ensembl	human	known	69_37n	missense	55	42.11	40	SNP	0.000	A
SLC9A4	389015	genome.wustl.edu	37	2	103095467	103095467	+	Silent	SNP	C	C	T	rs575529823		TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr2:103095467C>T	ENST00000295269.4	+	2	883	c.426C>T	c.(424-426)ggC>ggT	p.G142G		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	142					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTCTGGAGGGCGGCTACTTCA	0.597																																						dbGAP											0													67.0	62.0	64.0					2																	103095467		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.426C>T	2.37:g.103095467C>T			Q69YK0	Silent	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.G142	ENST00000295269.4	37	c.426	CCDS33264.1	2																																																																																			SLC9A4	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger	ENSG00000180251		0.597	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1	85	0.00	0	C	NM_001011552.3		103095467	103095467	+1	no_errors	ENST00000295269	ensembl	human	known	69_37n	silent	44	32.31	21	SNP	0.002	T
SPATA21	374955	genome.wustl.edu	37	1	16730302	16730302	+	Silent	SNP	G	G	C			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr1:16730302G>C	ENST00000335496.1	-	10	1403	c.921C>G	c.(919-921)ccC>ccG	p.P307P	SPATA21_ENST00000540400.1_Silent_p.P284P|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	307							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GTAGAGTGTGGGGGTTGTGGG	0.562																																						dbGAP											0													92.0	93.0	93.0					1																	16730302		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.921C>G	1.37:g.16730302G>C			B9EK40|F5GXP5	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.P307	ENST00000335496.1	37	c.921	CCDS172.1	1																																																																																			SPATA21	-	NULL	ENSG00000187144		0.562	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA21	HGNC	protein_coding	OTTHUMT00000006677.2	46	0.00	0	G	NM_198546		16730302	16730302	-1	no_errors	ENST00000335496	ensembl	human	known	69_37n	silent	58	30.12	25	SNP	0.995	C
USP8	9101	genome.wustl.edu	37	15	50769138	50769138	+	Silent	SNP	T	T	C			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr15:50769138T>C	ENST00000396444.3	+	9	1280	c.942T>C	c.(940-942)aaT>aaC	p.N314N	USP8_ENST00000307179.4_Silent_p.N314N|USP8_ENST00000433963.1_Silent_p.N314N|USP8_ENST00000425032.3_Silent_p.N237N	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	314					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		ATACAACAAATGCTAAGGTCA	0.398																																						dbGAP											0													109.0	95.0	100.0					15																	50769138		2196	4294	6490	-	-	-	SO:0001819	synonymous_variant	0			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.942T>C	15.37:g.50769138T>C			B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.N314	ENST00000396444.3	37	c.942	CCDS10137.1	15																																																																																			USP8	-	superfamily_Rhodanese-like_dom	ENSG00000138592		0.398	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	67	0.00	0	T	NM_005154		50769138	50769138	+1	no_errors	ENST00000307179	ensembl	human	known	69_37n	silent	95	27.48	36	SNP	1.000	C
VCX3B	425054	genome.wustl.edu	37	X	8433833	8433833	+	Silent	SNP	C	C	T	rs201223234		TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chrX:8433833C>T	ENST00000381032.1	+	3	457	c.150C>T	c.(148-150)cgC>cgT	p.R50R	VCX3B_ENST00000381029.4_Silent_p.R50R|VCX3B_ENST00000444481.1_Silent_p.R50R|VCX3B_ENST00000440654.2_Silent_p.R50R|VCX3B_ENST00000453306.1_Silent_p.R50R	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	50						nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GAGGGAGACGCGGGAAGAAAG	0.642																																						dbGAP											0													1.0	1.0	1.0					X																	8433833		135	573	708	-	-	-	SO:0001819	synonymous_variant	0				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.150C>T	X.37:g.8433833C>T			C9JS46|Q4KN12	Silent	SNP	NULL	p.R50	ENST00000381032.1	37	c.150	CCDS48077.2	X																																																																																			VCX3B	-	NULL	ENSG00000205642		0.642	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	VCX3B	HGNC	protein_coding	OTTHUMT00000055691.1	8	0.00	0	C			8433833	8433833	+1	no_errors	ENST00000444481	ensembl	human	known	69_37n	silent	102	32.89	50	SNP	0.000	T
YBX1	4904	genome.wustl.edu	37	1	43166508	43166508	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A1G4-01A-11D-A13L-09	TCGA-A2-A1G4-10A-01W-A14R-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	420a4771-6376-4b52-a2e3-e62aaf4d4ed6	e8a9a187-4df7-41af-b0aa-389e4319b9ab	g.chr1:43166508A>G	ENST00000321358.7	+	7	936	c.797A>G	c.(796-798)aAt>aGt	p.N266S		NM_004559.3	NP_004550.2	P67809	YBOX1_HUMAN	Y box binding protein 1	266					CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|intracellular membrane-bounded organelle (GO:0043231)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|U12-type spliceosomal complex (GO:0005689)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			large_intestine(2)|lung(4)|ovary(4)|prostate(4)|upper_aerodigestive_tract(2)	16	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GATAAAGAAAATCAAGGAGAT	0.493																																						dbGAP											0													30.0	28.0	29.0					1																	43166508		2203	4296	6499	-	-	-	SO:0001583	missense	0			BC013838	CCDS470.1	1p34	2008-02-05	2005-08-11	2005-08-11	ENSG00000065978	ENSG00000065978			8014	protein-coding gene	gene with protein product		154030	"""nuclease sensitive element binding protein 1"""	NSEP1		1891370, 3174636	Standard	NM_004559		Approved	YB-1, YB1, DBPB, NSEP-1, MDR-NF1, BP-8, CSDB, CSDA2	uc001chs.3	P67809	OTTHUMG00000007523	ENST00000321358.7:c.797A>G	1.37:g.43166508A>G	ENSP00000361626:p.Asn266Ser		P16990|P16991|Q14972|Q15325|Q5FVF0	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd	p.N266S	ENST00000321358.7	37	c.797	CCDS470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.6|23.6	4.431008|4.431008	0.83776|0.83776	.|.	.|.	ENSG00000065978|ENSG00000065978	ENST00000436427|ENST00000321358;ENST00000318612	.|T	.|0.33438	.|1.41	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	.|0.083525	.|0.85682	.|D	.|0.000000	T|T	0.48077|0.48077	0.1480|0.1480	M|M	0.70787|0.70787	2.145|2.145	0.58432|0.58432	D|D	0.999998|0.999998	.|D	.|0.61697	.|0.99	.|P	.|0.57620	.|0.824	T|T	0.45542|0.45542	-0.9254|-0.9254	5|10	.|0.39692	.|T	.|0.17	-6.4245|-6.4245	13.3434|13.3434	0.60557|0.60557	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|266	.|P67809	.|YBOX1_HUMAN	V|S	316|266;256	.|ENSP00000361626:N266S	.|ENSP00000361621:N256S	I|N	+|+	1|2	0|0	YBX1|YBX1	42939095|42939095	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	8.559000|8.559000	0.90708|0.90708	2.023000|2.023000	0.59567|0.59567	0.451000|0.451000	0.29950|0.29950	ATC|AAT	YBX1	-	NULL	ENSG00000065978		0.493	YBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YBX1	HGNC	protein_coding	OTTHUMT00000019786.2	39	0.00	0	A	NM_004559		43166508	43166508	+1	no_errors	ENST00000321358	ensembl	human	known	69_37n	missense	39	40.00	26	SNP	1.000	G
