#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ADAM9	8754	genome.wustl.edu	37	8	38948831	38948831	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr8:38948831G>T	ENST00000487273.2	+	20	2342	c.2264G>T	c.(2263-2265)cGa>cTa	p.R755L		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	755				Missing (in Ref. 2; no nucleotide entry). {ECO:0000305}.	activation of MAPKK activity (GO:0000186)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to lipopolysaccharide (GO:0071222)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte activation (GO:0042117)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of protein secretion (GO:0050714)|response to calcium ion (GO:0051592)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to laminar fluid shear stress (GO:0034616)|response to manganese ion (GO:0010042)|response to tumor necrosis factor (GO:0034612)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of external side of plasma membrane (GO:0031233)	collagen binding (GO:0005518)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein kinase C binding (GO:0005080)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			AGTGTTCCTCGACATGTTTCT	0.333																																																	0													106.0	113.0	111.0					8																	38948831		2203	4300	6503	SO:0001583	missense	8754			U41766	CCDS6112.1	8p11.23	2011-03-18	2010-06-24		ENSG00000168615	ENSG00000168615		"""ADAM metallopeptidase domain containing"""	216	protein-coding gene	gene with protein product	"""meltrin gamma"""	602713	"""a disintegrin and metalloproteinase domain 9 (meltrin gamma)"", ""cone rod dystrophy 9"""	CORD9		8647900, 11581183, 19409519	Standard	NR_027638		Approved	MDC9, KIAA0021, MCMP, Mltng	uc003xmr.3	Q13443	OTTHUMG00000159783	ENST00000487273.2:c.2264G>T	8.37:g.38948831G>T	ENSP00000419446:p.Arg755Leu		B7ZLN7|Q10718|Q8NFM6	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.R755L	ENST00000487273.2	37	c.2264	CCDS6112.1	8	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.292789	0.01375	.	.	ENSG00000168615	ENST00000487273	T	0.03831	3.79	4.67	1.14	0.20703	.	0.342731	0.25517	N	0.030126	T	0.04137	0.0115	L	0.46157	1.445	0.09310	N	1	B	0.16396	0.017	B	0.17433	0.018	T	0.40232	-0.9574	10	0.28530	T	0.3	.	3.4739	0.07577	0.2702:0.0:0.5475:0.1823	.	755	Q13443	ADAM9_HUMAN	L	755	ENSP00000419446:R755L	ENSP00000419446:R755L	R	+	2	0	ADAM9	39067988	0.001000	0.12720	0.000000	0.03702	0.040000	0.13550	0.251000	0.18257	0.088000	0.17205	0.436000	0.28706	CGA	ADAM9	-	NULL		0.333	ADAM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM9	HGNC	protein_coding	OTTHUMT00000357291.2	G			38948831	+1	no_errors	ENST00000487273	ensembl	human	known	70_37	missense	SNP	0.000	T
ARCN1	372	genome.wustl.edu	37	11	118461072	118461072	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr11:118461072G>A	ENST00000264028.4	+	6	930	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	ARCN1_ENST00000392859.3_Missense_Mutation_p.E191K|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000359415.4_Missense_Mutation_p.E320K	NM_001655.4	NP_001646.2	P48444	COPD_HUMAN	archain 1	279	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer maturation (GO:0021691)|COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pigmentation (GO:0043473)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	clathrin adaptor complex (GO:0030131)|COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TATGAAGATTGAAGAAAAGAT	0.428																																																	0													94.0	83.0	87.0					11																	118461072		2200	4295	6495	SO:0001583	missense	372			X81197	CCDS8400.1, CCDS44749.1	11q23.3	2010-04-21	2003-01-29		ENSG00000095139	ENSG00000095139			649	protein-coding gene	gene with protein product		600820	"""coatomer protein complex, subunit delta"""	COPD		7782067, 8854871	Standard	NM_001655		Approved		uc001ptq.3	P48444	OTTHUMG00000166340	ENST00000264028.4:c.835G>A	11.37:g.118461072G>A	ENSP00000264028:p.Glu279Lys		B4E1X2|E9PEU4|Q52M80	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pfscan_Clathrin_mu_C	p.E279K	ENST00000264028.4	37	c.835	CCDS8400.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.558637	0.96514	.	.	ENSG00000095139	ENST00000392859;ENST00000359415;ENST00000264028	T;T;T	0.20332	2.08;2.08;2.08	5.86	5.86	0.93980	Clathrin adaptor, mu subunit, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.42517	0.1206	M	0.64676	1.99	0.80722	D	1	D;P;P	0.57257	0.979;0.872;0.91	P;P;P	0.60949	0.881;0.759;0.607	T	0.01238	-1.1409	10	0.27082	T	0.32	-9.2193	20.1581	0.98126	0.0:0.0:1.0:0.0	.	191;320;279	E9PEU4;B0YIW6;P48444	.;.;COPD_HUMAN	K	191;320;279	ENSP00000376599:E191K;ENSP00000352385:E320K;ENSP00000264028:E279K	ENSP00000264028:E279K	E	+	1	0	ARCN1	117966282	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.992000	0.93519	2.937000	0.99478	0.650000	0.86243	GAA	ARCN1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C		0.428	ARCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARCN1	HGNC	protein_coding	OTTHUMT00000389278.1	G			118461072	+1	no_errors	ENST00000264028	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP8B2	57198	genome.wustl.edu	37	1	154320997	154320997	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr1:154320997C>A	ENST00000368489.3	+	27	3376	c.3376C>A	c.(3376-3378)Ccg>Acg	p.P1126T		NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	1112					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAACCTGAAGCCGGATCTCTC	0.617																																																	0													77.0	66.0	69.0					1																	154320997		2203	4300	6503	SO:0001583	missense	57198			AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.3376C>A	1.37:g.154320997C>A	ENSP00000357475:p.Pro1126Thr		B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.P1126T	ENST00000368489.3	37	c.3376	CCDS1066.1	1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824601	0.71143	.	.	ENSG00000143515	ENST00000368489	D	0.94000	-3.33	4.64	4.64	0.57946	.	0.142736	0.46758	D	0.000263	D	0.95338	0.8487	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95471	0.8551	10	0.87932	D	0	.	9.94	0.41574	0.0:0.9059:0.0:0.0941	.	1126	P98198-3	.	T	1126	ENSP00000357475:P1126T	ENSP00000357475:P1126T	P	+	1	0	ATP8B2	152587621	1.000000	0.71417	0.999000	0.59377	0.883000	0.51084	5.321000	0.65846	2.406000	0.81754	0.491000	0.48974	CCG	ATP8B2	-	tigrfam_ATPase_P-typ_Plipid-transl		0.617	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B2	HGNC	protein_coding	OTTHUMT00000087658.2	C	NM_020452		154320997	+1	no_errors	ENST00000368489	ensembl	human	known	70_37	missense	SNP	1.000	A
CCDC13	152206	genome.wustl.edu	37	3	42794151	42794151	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr3:42794151C>G	ENST00000310232.6	-	4	512	c.429G>C	c.(427-429)aaG>aaC	p.K143N	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	143										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						ACAGCCGGTTCTTTTTTGATA	0.522																																																	0													115.0	108.0	110.0					3																	42794151		2203	4300	6503	SO:0001583	missense	152206			AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.429G>C	3.37:g.42794151C>G	ENSP00000309836:p.Lys143Asn			Missense_Mutation	SNP	superfamily_Prefoldin	p.K143N	ENST00000310232.6	37	c.429	CCDS2705.1	3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437430	0.83885	.	.	ENSG00000244607	ENST00000310232	T	0.47869	0.83	5.91	5.91	0.95273	.	0.183542	0.56097	D	0.000025	T	0.66147	0.2760	M	0.83953	2.67	0.58432	D	0.999991	D;D;D	0.67145	0.996;0.989;0.977	P;P;P	0.59948	0.866;0.787;0.787	T	0.67643	-0.5618	10	0.45353	T	0.12	.	12.4051	0.55434	0.0:0.9224:0.0:0.0776	.	143;143;143	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	N	143	ENSP00000309836:K143N	ENSP00000309836:K143N	K	-	3	2	CCDC13	42769155	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.893000	0.56243	2.813000	0.96785	0.655000	0.94253	AAG	CCDC13	-	NULL		0.522	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC13	HGNC	protein_coding	OTTHUMT00000256652.1	C	NM_144719		42794151	-1	no_errors	ENST00000310232	ensembl	human	known	70_37	missense	SNP	1.000	G
CHST8	64377	genome.wustl.edu	37	19	34263497	34263497	+	Silent	SNP	C	C	T			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr19:34263497C>T	ENST00000262622.4	+	4	1562	c.804C>T	c.(802-804)ttC>ttT	p.F268F	CHST8_ENST00000434302.1_Silent_p.F268F|CHST8_ENST00000438847.3_Silent_p.F268F	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	268					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					TGTCCGCCTTCCGCGACAAGT	0.632																																																	0													91.0	87.0	88.0					19																	34263497		2203	4300	6503	SO:0001819	synonymous_variant	64377			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.804C>T	19.37:g.34263497C>T			Q9H3N2	Silent	SNP	pfam_Sulfotransferase	p.F268	ENST00000262622.4	37	c.804	CCDS12433.1	19																																																																																			CHST8	-	pfam_Sulfotransferase		0.632	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHST8	HGNC	protein_coding	OTTHUMT00000451453.1	C	NM_022467		34263497	+1	no_errors	ENST00000262622	ensembl	human	known	70_37	silent	SNP	1.000	T
CROCCP2	84809	genome.wustl.edu	37	1	16956946	16956946	+	lincRNA	SNP	C	C	G	rs28523274	byFrequency	TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr1:16956946C>G	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CCAGGGCTCCCAGGCTCCTCC	0.612																																																	0																																												84809			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956946C>G			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-		0.612	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	C	NR_026752.1		16956946	-1	no_errors	ENST00000362058	ensembl	human	known	70_37	rna	SNP	0.035	G
DACH2	117154	genome.wustl.edu	37	X	85769284	85769284	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chrX:85769284C>G	ENST00000373125.4	+	3	530	c.530C>G	c.(529-531)tCa>tGa	p.S177*	DACH2_ENST00000373131.1_Nonsense_Mutation_p.S164*|DACH2_ENST00000510272.1_5'UTR|DACH2_ENST00000508860.1_Nonsense_Mutation_p.S10*	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	177					development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TTCAACAGTTCAAGACCCGGC	0.418																																																	0													32.0	29.0	30.0					X																	85769284		2203	4300	6503	SO:0001587	stop_gained	117154			AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.530C>G	X.37:g.85769284C>G	ENSP00000362217:p.Ser177*		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Nonsense_Mutation	SNP	pfam_Transform_Ski,superfamily_DNA-bd_dom_put	p.S177*	ENST00000373125.4	37	c.530	CCDS14455.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.000999	0.97189	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125;ENST00000508860;ENST00000400297	.	.	.	4.88	4.01	0.46588	.	0.103997	0.42172	D	0.000760	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	12.126	0.53917	0.0:0.9143:0.0:0.0857	.	.	.	.	X	177;164;177;10;10	.	ENSP00000345134:S177X	S	+	2	0	DACH2	85655940	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.223000	0.65283	0.834000	0.34852	0.506000	0.49869	TCA	DACH2	-	NULL		0.418	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DACH2	HGNC	protein_coding	OTTHUMT00000359266.1	C	NM_053281		85769284	+1	no_errors	ENST00000373125	ensembl	human	known	70_37	nonsense	SNP	1.000	G
DAGLA	747	genome.wustl.edu	37	11	61507102	61507102	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr11:61507102G>A	ENST00000257215.5	+	17	1938	c.1822G>A	c.(1822-1824)Gtg>Atg	p.V608M		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	608					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CATCATCCACGTGGTCCACAA	0.672																																																	0													99.0	86.0	91.0					11																	61507102		2202	4299	6501	SO:0001583	missense	747			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.1822G>A	11.37:g.61507102G>A	ENSP00000257215:p.Val608Met		A7E233|Q6WQJ0	Missense_Mutation	SNP	pfam_Lipase_3	p.V608M	ENST00000257215.5	37	c.1822	CCDS31578.1	11	.	.	.	.	.	.	.	.	.	.	G	25.7	4.662631	0.88251	.	.	ENSG00000134780	ENST00000257215	T	0.26810	1.71	4.23	4.23	0.50019	.	0.000000	0.85682	D	0.000000	T	0.48750	0.1517	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.52373	-0.8584	10	0.56958	D	0.05	-25.5336	17.0001	0.86378	0.0:0.0:1.0:0.0	.	608	Q9Y4D2	DGLA_HUMAN	M	608	ENSP00000257215:V608M	ENSP00000257215:V608M	V	+	1	0	DAGLA	61263678	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.791000	0.99081	2.076000	0.62316	0.462000	0.41574	GTG	DAGLA	-	NULL		0.672	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	G	NM_006133		61507102	+1	no_errors	ENST00000257215	ensembl	human	known	70_37	missense	SNP	1.000	A
LINC00937	389634	genome.wustl.edu	37	12	8476956	8476956	+	lincRNA	SNP	G	G	A			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr12:8476956G>A	ENST00000544461.1	-	0	1081				RP11-90D4.3_ENST00000535746.1_lincRNA|RP11-113C12.4_ENST00000537764.1_RNA|AC092745.1_ENST00000408380.1_RNA					long intergenic non-protein coding RNA 937																		tttctcgctcgggcctccaAA	0.537																																																	0																																												0			BC073935		12p13.31	2013-05-30			ENSG00000226091	ENSG00000226091		"""Long non-coding RNAs"""	48629	non-coding RNA	RNA, long non-coding							Standard	NR_024420		Approved				OTTHUMG00000168663		12.37:g.8476956G>A				RNA	SNP	-	NULL	ENST00000544461.1	37	NULL		12																																																																																			AC092745.1	-	-		0.537	LINC00937-001	KNOWN	basic	lincRNA	ENSG00000221307	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000400511.1	G			8476956	+1	no_errors	ENST00000408380	ensembl	human	novel	70_37	rna	SNP	0.279	A
ERV3-1	2086	genome.wustl.edu	37	7	64452777	64452777	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr7:64452777G>C	ENST00000394323.2	-	2	1128	c.628C>G	c.(628-630)Ccc>Gcc	p.P210A	ZNF117_ENST00000282869.6_5'Flank	NM_001007253.3	NP_001007254.2	Q14264	ENR1_HUMAN	endogenous retrovirus group 3, member 1	210						extracellular vesicular exosome (GO:0070062)|viral envelope (GO:0019031)				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						gtccatatgggctgatctggc	0.413																																																	0													185.0	183.0	184.0					7																	64452777		2016	4211	6227	SO:0001583	missense	2086			AK295189	CCDS47595.1	7p12-q11	2014-05-02	2011-05-05	2011-05-05	ENSG00000213462	ENSG00000213462			3454	other	endogenous retrovirus		131170	"""endogenous retroviral sequence 3 (includes zinc finger protein H-plk/HPF9)"", ""endogenous retroviral sequence 3"""	ERV3		2115127, 6495650, 21542922	Standard	NM_001007253		Approved	H-PLK, HERV-R, ERV-R, envR	uc011kdr.2	Q14264	OTTHUMG00000165023	ENST00000394323.2:c.628C>G	7.37:g.64452777G>C	ENSP00000391594:p.Pro210Ala			Missense_Mutation	SNP	NULL	p.P210A	ENST00000394323.2	37	c.628	CCDS47595.1	7	.	.	.	.	.	.	.	.	.	.	.	13.99	2.402047	0.42613	.	.	ENSG00000213462	ENST00000394323	T	0.33438	1.41	0.109	0.109	0.14578	.	.	.	.	.	T	0.26991	0.0661	N	0.08118	0	0.18873	N	0.999982	D	0.71674	0.998	D	0.70716	0.97	T	0.24870	-1.0148	8	0.22706	T	0.39	.	.	.	.	.	210	Q14264	ENR1_HUMAN	A	210	ENSP00000391594:P210A	ENSP00000391594:P210A	P	-	1	0	ERV3-1	64090212	0.855000	0.29742	0.634000	0.29324	0.638000	0.38207	0.230000	0.17852	0.181000	0.19994	0.184000	0.17185	CCC	ERV3-1	-	NULL		0.413	ERV3-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERV3-1	HGNC	protein_coding	OTTHUMT00000381468.1	G	NM_001007253		64452777	-1	no_errors	ENST00000394323	ensembl	human	known	70_37	missense	SNP	0.695	C
SMIM11	54065	genome.wustl.edu	37	21	35774492	35774492	+	3'UTR	DEL	T	T	-	rs534668511	byFrequency	TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr21:35774492delT	ENST00000399299.1	+	0	450				SMIM11_ENST00000481710.1_3'UTR|AP000322.54_ENST00000410005.1_5'Flank			P58511	SIM11_HUMAN	small integral membrane protein 11							integral component of membrane (GO:0016021)											TGGAGGAGGATTTTTTTTTTT	0.373																																																	0																																										SO:0001624	3_prime_UTR_variant	54065			BC015596	CCDS33550.1	21q22.12	2012-12-03	2012-12-03	2012-12-03	ENSG00000205670	ENSG00000205670			1293	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 51"", ""family with sequence similarity 165, member B"""	C21orf51, FAM165B			Standard	NM_058182		Approved		uc002ytu.4	P58511	OTTHUMG00000086193	ENST00000399299.1:c.*98T>-	21.37:g.35774492delT				RNA	DEL	-	NULL	ENST00000399299.1	37	NULL		21																																																																																			FAM165B	-	-		0.373	SMIM11-002	PUTATIVE	basic|exp_conf	protein_coding	FAM165B	HGNC	protein_coding	OTTHUMT00000194076.1	T	NM_058182		35774492	+1	no_errors	ENST00000481710	ensembl	human	known	70_37	rna	DEL	0.002	-
FAT1	2195	genome.wustl.edu	37	4	187540391	187540391	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr4:187540391G>C	ENST00000441802.2	-	10	7558	c.7349C>G	c.(7348-7350)tCa>tGa	p.S2450*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2450	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S2450*(2)|p.S2453*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTGCAGGTTTGAGAGGGTGAT	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												4	Substitution - Nonsense(4)	lung(4)											160.0	166.0	164.0					4																	187540391		2055	4199	6254	SO:0001587	stop_gained	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7349C>G	4.37:g.187540391G>C	ENSP00000406229:p.Ser2450*			Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.S2450*	ENST00000441802.2	37	c.7349	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	47	13.224743	0.99728	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	19.3787	0.94523	0.0:0.0:1.0:0.0	.	.	.	.	X	2450;2452	.	ENSP00000260147:S2452X	S	-	2	0	FAT1	187777385	1.000000	0.71417	0.983000	0.44433	0.038000	0.13279	9.601000	0.98297	2.890000	0.99128	0.650000	0.86243	TCA	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187540391	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	nonsense	SNP	1.000	C
FKBP4	2288	genome.wustl.edu	37	12	2910358	2910358	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr12:2910358G>A	ENST00000001008.4	+	9	1295	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	370	Interaction with tubulin. {ECO:0000250}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			GAATGACTTTGAACTGGCACG	0.592																																																	0													57.0	62.0	60.0					12																	2910358		2203	4300	6503	SO:0001583	missense	2288			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.1108G>A	12.37:g.2910358G>A	ENSP00000001008:p.Glu370Lys		D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.E370K	ENST00000001008.4	37	c.1108	CCDS8512.1	12	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797674	0.90538	.	.	ENSG00000004478	ENST00000001008	T	0.75938	-0.98	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.181068	0.64402	D	0.000017	T	0.66436	0.2789	L	0.28274	0.84	0.80722	D	1	B	0.25007	0.116	B	0.26770	0.073	T	0.62923	-0.6751	10	0.46703	T	0.11	-20.4149	18.5351	0.91008	0.0:0.0:1.0:0.0	.	370	Q02790	FKBP4_HUMAN	K	370	ENSP00000001008:E370K	ENSP00000001008:E370K	E	+	1	0	FKBP4	2780619	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.383000	0.97214	2.619000	0.88677	0.561000	0.74099	GAA	FKBP4	-	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.592	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP4	HGNC	protein_coding	OTTHUMT00000206861.1	G			2910358	+1	no_errors	ENST00000001008	ensembl	human	known	70_37	missense	SNP	1.000	A
FREM1	158326	genome.wustl.edu	37	9	14805125	14805125	+	Missense_Mutation	SNP	G	G	T	rs373880710		TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr9:14805125G>T	ENST00000380880.3	-	19	4083	c.3300C>A	c.(3298-3300)aaC>aaA	p.N1100K	FREM1_ENST00000380881.4_Missense_Mutation_p.N1101K|FREM1_ENST00000422223.2_Missense_Mutation_p.N1100K			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1100					cell communication (GO:0007154)|cell-matrix adhesion (GO:0007160)|craniofacial suture morphogenesis (GO:0097094)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGTGAAAAGCGTTCATGTCTT	0.413																																																	0													144.0	136.0	139.0					9																	14805125		1919	4136	6055	SO:0001583	missense	158326			AK058190	CCDS47952.1, CCDS55293.1	9p22.3	2010-06-04	2004-12-15	2004-12-15	ENSG00000164946	ENSG00000164946			23399	protein-coding gene	gene with protein product		608944	"""chromosome 9 open reading frame 154"""	C9orf154		12838346, 15345741	Standard	NM_144966		Approved	FLJ25461, C9orf145, C9orf143, DKFZp686M16108, TILRR	uc003zlm.3	Q5H8C1	OTTHUMG00000019575	ENST00000380880.3:c.3300C>A	9.37:g.14805125G>T	ENSP00000370262:p.Asn1100Lys		B7ZBX4|Q5VV00|Q5VV01|Q6MZI4|Q8NEG9|Q96LI3	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin	p.N1101K	ENST00000380880.3	37	c.3303	CCDS47952.1	9	.	.	.	.	.	.	.	.	.	.	G	1.689	-0.504545	0.04261	.	.	ENSG00000164946	ENST00000380881;ENST00000422223;ENST00000380880	T;T;T	0.26660	1.72;1.72;1.72	5.42	1.51	0.23008	.	0.343327	0.32028	N	0.006687	T	0.04679	0.0127	N	0.00427	-1.505	0.25761	N	0.98495	B	0.02656	0.0	B	0.01281	0.0	T	0.40887	-0.9539	10	0.02654	T	1	-7.8446	5.9448	0.19213	0.0:0.4962:0.1321:0.3717	.	1100	Q5H8C1	FREM1_HUMAN	K	1101;1100;1100	ENSP00000370263:N1101K;ENSP00000412940:N1100K;ENSP00000370262:N1100K	ENSP00000370257:N1103K	N	-	3	2	FREM1	14795125	0.998000	0.40836	0.996000	0.52242	0.983000	0.72400	0.655000	0.24933	0.014000	0.14944	-0.171000	0.13296	AAC	FREM1	-	NULL		0.413	FREM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FREM1	HGNC	protein_coding	OTTHUMT00000339474.2	G	NM_144966		14805125	-1	no_errors	ENST00000380881	ensembl	human	known	70_37	missense	SNP	0.976	T
HERC2P2	400322	genome.wustl.edu	37	15	23283144	23283144	+	RNA	SNP	A	A	G	rs74489054		TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr15:23283144A>G	ENST00000560464.1	-	0	5106									hect domain and RLD 2 pseudogene 2																		CGGACACCCTAATGCTTCTCC	0.552																																																	0																																												400322			AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23283144A>G				RNA	SNP	-	NULL	ENST00000560464.1	37	NULL		15																																																																																			HERC2P2	-	-		0.552	HERC2P2-001	KNOWN	basic	processed_transcript	HERC2P2	HGNC	pseudogene	OTTHUMT00000415936.1	A			23283144	-1	no_errors	ENST00000560464	ensembl	human	known	70_37	rna	SNP	0.299	G
CSF1R	1436	genome.wustl.edu	37	5	149429857	149429857	+	IGR	SNP	C	C	T			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr5:149429857C>T	ENST00000286301.3	-	0	3989				HMGXB3_ENST00000503427.1_Missense_Mutation_p.R1050C|HMGXB3_ENST00000502717.1_Missense_Mutation_p.R1082C	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor						cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGAGAGTGCCCGTGACCATGT	0.602																																																	0													78.0	72.0	74.0					5																	149429857		692	1591	2283	SO:0001628	intergenic_variant	22993			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050		5.37:g.149429857C>T			B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R1082C	ENST00000286301.3	37	c.3244	CCDS4302.1	5	.	.	.	.	.	.	.	.	.	.	C	37	5.997352	0.97184	.	.	ENSG00000113716	ENST00000503427;ENST00000502717	.	.	.	5.77	5.77	0.91146	.	0.173070	0.52532	D	0.000073	T	0.76877	0.4049	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	P	0.60173	0.87	T	0.78206	-0.2294	9	0.87932	D	0	-3.9705	19.9927	0.97374	0.0:1.0:0.0:0.0	.	1328	Q12766	HMGX3_HUMAN	C	1050;1082	.	ENSP00000421917:R1082C	R	+	1	0	HMGXB3	149410050	1.000000	0.71417	0.911000	0.35937	0.994000	0.84299	7.487000	0.81328	2.745000	0.94114	0.655000	0.94253	CGT	HMGXB3	-	NULL		0.602	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGXB3	HGNC	protein_coding	OTTHUMT00000252329.2	C	NM_005211		149429857	+1	no_errors	ENST00000502717	ensembl	human	known	70_37	missense	SNP	1.000	T
IP6K2	51447	genome.wustl.edu	37	3	48725981	48725981	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr3:48725981C>T	ENST00000328631.5	-	6	1229	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	NCKIPSD_ENST00000341520.4_5'Flank|NCKIPSD_ENST00000416649.2_5'Flank|NCKIPSD_ENST00000294129.2_5'Flank	NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	336					cytokine-mediated signaling pathway (GO:0019221)|inositol phosphate metabolic process (GO:0043647)|negative regulation of cell growth (GO:0030308)|phosphate ion transport (GO:0006817)|phosphatidylinositol phosphorylation (GO:0046854)|positive regulation of apoptotic process (GO:0043065)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						TCCTTGCCATCATAAATGACC	0.557																																																	0													87.0	80.0	82.0					3																	48725981		2203	4300	6503	SO:0001583	missense	51447			AF177145	CCDS2777.1, CCDS33752.1, CCDS54579.1, CCDS54580.1, CCDS54581.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000068745	ENSG00000068745			17313	protein-coding gene	gene with protein product		606992	"""inositol hexaphosphate kinase 2"""	IHPK2		10574768	Standard	NM_016291		Approved		uc003cup.3	Q9UHH9	OTTHUMG00000133543	ENST00000328631.5:c.1006G>A	3.37:g.48725981C>T	ENSP00000331103:p.Asp336Asn		A8K3B1|B4E3G6|G8JLL6|Q6P0N8|Q9BSZ6|Q9BUW3|Q9H4P7|Q9NT63|Q9UFU6	Missense_Mutation	SNP	pfam_IPK	p.D336N	ENST00000328631.5	37	c.1006	CCDS2777.1	3	.	.	.	.	.	.	.	.	.	.	C	27.1	4.801030	0.90538	.	.	ENSG00000068745	ENST00000328631	T	0.26223	1.75	5.61	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.60117	0.2244	M	0.92649	3.33	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.71283	-0.4639	10	0.66056	D	0.02	-0.9318	14.6975	0.69132	0.0:0.9303:0.0:0.0697	.	336	Q9UHH9	IP6K2_HUMAN	N	336	ENSP00000331103:D336N	ENSP00000331103:D336N	D	-	1	0	IP6K2	48700985	1.000000	0.71417	0.955000	0.39395	0.980000	0.70556	7.818000	0.86416	1.367000	0.46095	0.655000	0.94253	GAT	IP6K2	-	pfam_IPK		0.557	IP6K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K2	HGNC	protein_coding	OTTHUMT00000257521.2	C	NM_016291		48725981	-1	no_errors	ENST00000328631	ensembl	human	known	70_37	missense	SNP	1.000	T
KDM1A	23028	genome.wustl.edu	37	1	23381588	23381588	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr1:23381588C>A	ENST00000356634.3	+	5	906	c.757C>A	c.(757-759)Cac>Aac	p.H253N	KDM1A_ENST00000542151.1_Missense_Mutation_p.H273N|KDM1A_ENST00000400181.4_Missense_Mutation_p.H273N|RP1-184J9.2_ENST00000427154.1_RNA|MIR4419A_ENST00000583845.1_RNA	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	253	SWIRM. {ECO:0000255|PROSITE- ProRule:PRU00247}.				blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCACCGAGTTCACAGTTATTT	0.373																																																	0													215.0	212.0	213.0					1																	23381588		2203	4300	6503	SO:0001583	missense	23028			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.757C>A	1.37:g.23381588C>A	ENSP00000349049:p.His253Asn		A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM	p.H273N	ENST00000356634.3	37	c.817	CCDS30627.1	1	.	.	.	.	.	.	.	.	.	.	C	26.0	4.699555	0.88830	.	.	ENSG00000004487	ENST00000356634;ENST00000400181;ENST00000542151	T;T;T	0.35973	1.3;1.28;1.28	5.31	5.31	0.75309	Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);SWIRM (2);	0.000000	0.85682	D	0.000000	T	0.64360	0.2591	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.68239	-0.5461	10	0.72032	D	0.01	-24.0898	18.3338	0.90280	0.0:1.0:0.0:0.0	.	273;253	O60341-2;O60341	.;KDM1A_HUMAN	N	253;273;273	ENSP00000349049:H253N;ENSP00000383042:H273N;ENSP00000439072:H273N	ENSP00000349049:H253N	H	+	1	0	KDM1A	23254175	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.954000	0.70298	2.650000	0.89964	0.655000	0.94253	CAC	KDM1A	-	pfam_SWIRM,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM		0.373	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KDM1A	HGNC	protein_coding	OTTHUMT00000008880.3	C	NM_015013		23381588	+1	no_errors	ENST00000542151	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRC43	254050	genome.wustl.edu	37	12	122687969	122687969	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr12:122687969C>G	ENST00000339777.4	+	12	1979	c.1951C>G	c.(1951-1953)Ctg>Gtg	p.L651V	LRRC43_ENST00000425921.1_Missense_Mutation_p.L466V|B3GNT4_ENST00000324189.4_5'Flank|B3GNT4_ENST00000535274.1_5'Flank|B3GNT4_ENST00000546192.1_5'Flank	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	651										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GGAGGAGGCTCTGCGCATGTT	0.662																																																	0													49.0	56.0	53.0					12																	122687969		2032	4177	6209	SO:0001583	missense	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1951C>G	12.37:g.122687969C>G	ENSP00000344233:p.Leu651Val		Q6ZVT9	Missense_Mutation	SNP	NULL	p.L651V	ENST00000339777.4	37	c.1951	CCDS45001.1	12	.	.	.	.	.	.	.	.	.	.	C	12.05	1.820581	0.32145	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.56444	0.46;0.89	4.08	-1.25	0.09405	.	0.774754	0.11203	N	0.588579	T	0.39009	0.1062	L	0.54323	1.7	0.09310	N	1	B	0.32101	0.356	B	0.28305	0.088	T	0.34004	-0.9846	10	0.56958	D	0.05	-16.3728	2.8508	0.05556	0.3311:0.2847:0.0:0.3842	.	651	Q8N309	LRC43_HUMAN	V	651;522;466	ENSP00000344233:L651V;ENSP00000416628:L466V	ENSP00000289014:L522V	L	+	1	2	LRRC43	121253922	.	.	0.130000	0.21974	0.081000	0.17604	.	.	-0.020000	0.14032	0.462000	0.41574	CTG	LRRC43	-	NULL		0.662	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1	C	NM_152759		122687969	+1	no_errors	ENST00000339777	ensembl	human	known	70_37	missense	SNP	0.002	G
MAPK1	5594	genome.wustl.edu	37	22	22127164	22127164	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr22:22127164C>T	ENST00000215832.6	-	7	1152	c.964G>A	c.(964-966)Gag>Aag	p.E322K	MAPK1_ENST00000398822.3_Missense_Mutation_p.E322K|MAPK1_ENST00000544786.1_Missense_Mutation_p.E278K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	322					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 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)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E322K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GCTCTTACCTCGTCACTCGGG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											165.0	132.0	143.0					22																	22127164		2203	4300	6503	SO:0001583	missense	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.964G>A	22.37:g.22127164C>T	ENSP00000215832:p.Glu322Lys		A8CZ64	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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.E322K	ENST00000215832.6	37	c.964	CCDS13795.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.567659	0.96540	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.46063	0.88;0.88;0.88	4.9	4.9	0.64082	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.79275	0.4418	H	0.98388	4.22	0.80722	D	1	D;D	0.89917	0.999;1.0	P;D	0.83275	0.905;0.996	D	0.87609	0.2502	10	0.87932	D	0	-8.3311	18.6384	0.91386	0.0:1.0:0.0:0.0	.	278;322	A8CZ64;P28482	.;MK01_HUMAN	K	322;310;322;278	ENSP00000215832:E322K;ENSP00000381803:E322K;ENSP00000440842:E278K	ENSP00000215832:E322K	E	-	1	0	MAPK1	20457164	1.000000	0.71417	0.999000	0.59377	0.862000	0.49288	7.564000	0.82326	2.706000	0.92434	0.655000	0.94253	GAG	MAPK1	-	superfamily_Kinase-like_dom,prints_MAPK_ERK1/2		0.478	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	HGNC	protein_coding	OTTHUMT00000075396.2	C			22127164	-1	no_errors	ENST00000215832	ensembl	human	known	70_37	missense	SNP	1.000	T
MLLT10	8028	genome.wustl.edu	37	10	21959589	21959589	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr10:21959589G>C	ENST00000307729.7	+	10	1185	c.1007G>C	c.(1006-1008)aGa>aCa	p.R336T	MLLT10_ENST00000377072.3_Missense_Mutation_p.R336T|MLLT10_ENST00000446906.2_Missense_Mutation_p.R336T|MLLT10_ENST00000377059.3_Missense_Mutation_p.R336T			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	336	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GGTGGTGGAAGAAATCCAGGA	0.413			T	"""MLL, PICALM, CDK6"""	AL																																			Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	0													94.0	92.0	93.0					10																	21959589		2203	4300	6503	SO:0001583	missense	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1007G>C	10.37:g.21959589G>C	ENSP00000307411:p.Arg336Thr		B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.R336T	ENST00000307729.7	37	c.1007	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	G	15.96	2.987539	0.53934	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059;ENST00000438473;ENST00000538639	T;T;T;T	0.15603	2.43;2.42;2.41;2.42	5.71	5.71	0.89125	.	0.534882	0.20641	N	0.088406	T	0.32675	0.0837	L	0.41236	1.265	0.46823	D	0.999217	D;P;P;P	0.71674	0.998;0.799;0.948;0.799	D;B;P;B	0.66351	0.943;0.343;0.614;0.343	T	0.01062	-1.1464	10	0.19147	T	0.46	.	19.8404	0.96679	0.0:0.0:1.0:0.0	.	182;336;336;336	F5H541;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	T	336;336;336;182;336;76;75	ENSP00000366272:R336T;ENSP00000401406:R336T;ENSP00000307411:R336T;ENSP00000366258:R336T	ENSP00000307411:R336T	R	+	2	0	MLLT10	21999595	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.163000	0.64948	2.689000	0.91719	0.655000	0.94253	AGA	MLLT10	-	NULL		0.413	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	HGNC	protein_coding	OTTHUMT00000047136.1	G			21959589	+1	no_errors	ENST00000307729	ensembl	human	known	70_37	missense	SNP	1.000	C
MT-ND4L	4539	genome.wustl.edu	37	M	10663	10663	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chrM:10663T>C	ENST00000361335.1	+	1	194	c.194T>C	c.(193-195)gTc>gCc	p.V65A	MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-ND5_ENST00000361567.2_5'Flank|MT-TG_ENST00000387429.1_RNA			P03901	NU4LM_HUMAN	mitochondrially encoded NADH dehydrogenase 4L	65			V -> A (in LHON; possible rare primary mutation). {ECO:0000269|PubMed:8680405}.		cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(2)|kidney(2)	5						TGCCATACTAGTCTTTGCCGC	0.463																																																	0																																										SO:0001583	missense	4539					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000212907	ENSG00000212907	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7460	protein-coding gene	gene with protein product	"""complex I ND4L subunit"", ""NADH-ubiquinone oxidoreductase chain 4L"""	516004	"""NADH dehydrogenase 4L"""	MTND4L			Standard			Approved	ND4L, NAD4L		P03901		ENST00000361335.1:c.194T>C	M.37:g.10663T>C	ENSP00000354728:p.Val65Ala			Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_chain4L/K	p.V65A	ENST00000361335.1	37	c.194		MT																																																																																			MT-ND4L	-	pfam_NADH_UbQ_OxRdtase_chain4L/K		0.463	MT-ND4L-201	KNOWN	basic|appris_principal	protein_coding	MT-ND4L	HGNC	protein_coding		T	YP_003024034		10663	+1	no_errors	ENST00000361335	ensembl	human	known	70_37	missense	SNP	NULL	C
NOD2	64127	genome.wustl.edu	37	16	50744657	50744657	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr16:50744657G>C	ENST00000300589.2	+	4	940	c.835G>C	c.(835-837)Gag>Cag	p.E279Q	RP11-327F22.6_ENST00000602304.1_RNA|NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	279					activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|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)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CCTGGGCCTGGAGGAGCTCTT	0.642																																																	0													37.0	38.0	37.0					16																	50744657		2198	4300	6498	SO:0001583	missense	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.835G>C	16.37:g.50744657G>C	ENSP00000300589:p.Glu279Gln		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.E279Q	ENST00000300589.2	37	c.835	CCDS10746.1	16	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814598	0.50527	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.71461	-0.57	5.63	3.49	0.39957	.	0.543226	0.17897	N	0.158339	T	0.73521	0.3597	L	0.49350	1.555	0.30250	N	0.79421	P;P;P	0.52170	0.722;0.951;0.722	B;P;B	0.54100	0.189;0.742;0.189	T	0.71842	-0.4470	10	0.56958	D	0.05	.	12.5706	0.56334	0.0:0.2463:0.7537:0.0	.	63;252;279	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	Q	252;279	ENSP00000300589:E279Q	ENSP00000300589:E279Q	E	+	1	0	NOD2	49302158	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	2.076000	0.41548	2.655000	0.90218	0.462000	0.41574	GAG	NOD2	-	NULL		0.642	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2	G	NM_022162		50744657	+1	no_errors	ENST00000300589	ensembl	human	known	70_37	missense	SNP	0.997	C
NR2F2	7026	genome.wustl.edu	37	15	96877515	96877515	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr15:96877515G>A	ENST00000394166.3	+	2	2042	c.653G>A	c.(652-654)aGg>aAg	p.R218K	NR2F2_ENST00000394171.2_Missense_Mutation_p.R65K|NR2F2_ENST00000453270.2_Missense_Mutation_p.R65K|NR2F2_ENST00000421109.2_Missense_Mutation_p.R85K|MIR1469_ENST00000410719.1_RNA	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	218	Interaction with ZFPM2. {ECO:0000250}.|Ligand-binding. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CTGGCCGCGAGGATGCTCTTC	0.632																																																	0													155.0	146.0	149.0					15																	96877515		2197	4298	6495	SO:0001583	missense	7026			M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.653G>A	15.37:g.96877515G>A	ENSP00000377721:p.Arg218Lys		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4	p.R218K	ENST00000394166.3	37	c.653	CCDS10375.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.438571	0.96168	.	.	ENSG00000185551	ENST00000421109;ENST00000394166;ENST00000394171;ENST00000453270	D;D;D;D	0.96992	-4.2;-4.2;-4.2;-4.2	4.96	4.96	0.65561	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.95990	0.8694	L	0.31065	0.9	0.80722	D	1	D;P	0.67145	0.996;0.924	D;P	0.85130	0.997;0.649	D	0.93121	0.6525	10	0.06757	T	0.87	.	18.1811	0.89779	0.0:0.0:1.0:0.0	.	218;85	P24468;Q3KQR7	COT2_HUMAN;.	K	85;218;65;65	ENSP00000401674:R85K;ENSP00000377721:R218K;ENSP00000377726:R65K;ENSP00000389853:R65K	ENSP00000377721:R218K	R	+	2	0	NR2F2	94678519	1.000000	0.71417	0.990000	0.47175	0.969000	0.65631	9.869000	0.99810	2.306000	0.77630	0.561000	0.74099	AGG	NR2F2	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF,prints_Str_hrmn_rcpt		0.632	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2F2	HGNC	protein_coding	OTTHUMT00000313534.1	G			96877515	+1	no_errors	ENST00000394166	ensembl	human	known	70_37	missense	SNP	1.000	A
PACRGL	133015	genome.wustl.edu	37	4	20715122	20715122	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr4:20715122G>C	ENST00000503585.1	+	7	960	c.569G>C	c.(568-570)gGt>gCt	p.G190A	PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000502374.1_Missense_Mutation_p.G137A|PACRGL_ENST00000360916.5_Missense_Mutation_p.G190A|PACRGL_ENST00000513459.1_Missense_Mutation_p.G137A|PACRGL_ENST00000538990.1_Missense_Mutation_p.G92A|PACRGL_ENST00000507634.1_Missense_Mutation_p.G190A|PACRGL_ENST00000444671.2_Missense_Mutation_p.G92A|PACRGL_ENST00000295290.8_Missense_Mutation_p.G190A	NM_001258345.1	NP_001245274.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	190										endometrium(2)|lung(7)|prostate(1)	10						GTCGTTGTTGGTCCTTCTCTA	0.418																																																	0													257.0	205.0	223.0					4																	20715122		2203	4300	6503	SO:0001583	missense	133015			AK098692	CCDS3427.1, CCDS47034.1, CCDS58895.1, CCDS58896.1	4p15.31	2008-10-02	2008-10-02	2008-10-02	ENSG00000163138	ENSG00000163138			28442	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 28"""	C4orf28		12477932	Standard	NM_145048		Approved	MGC29898	uc010iek.3	Q8N7B6	OTTHUMG00000128550	ENST00000503585.1:c.569G>C	4.37:g.20715122G>C	ENSP00000423881:p.Gly190Ala		B2RDB9|B4DFF8|B4DMN7|Q8TBA8	Missense_Mutation	SNP	pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold	p.G190A	ENST00000503585.1	37	c.569	CCDS58895.1	4	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406528	0.83230	.	.	ENSG00000163138	ENST00000510051;ENST00000503585;ENST00000360916;ENST00000295290;ENST00000444671;ENST00000513861;ENST00000502374;ENST00000538990;ENST00000513590;ENST00000514292;ENST00000507634;ENST00000513459;ENST00000511089	T;T;T;T;T;T;T;T;T;T	0.70986	3.21;-0.53;3.21;3.21;1.29;3.21;3.21;3.21;3.21;3.21	5.64	5.64	0.86602	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86590	0.5969	M	0.85462	2.755	0.41357	D	0.9874	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0;0.999	D;D;D;D;D;D	0.97110	0.997;0.996;0.993;0.999;1.0;0.988	D	0.87771	0.2605	10	0.62326	D	0.03	-16.4867	19.6973	0.96031	0.0:0.0:1.0:0.0	.	137;190;238;92;137;190	B4DFF8;Q8N7B6;D6R9N9;B4DMN7;D6RGK2;Q8N7B6-2	.;PACRL_HUMAN;.;.;.;.	A	238;190;190;190;92;137;137;92;190;92;190;137;137	ENSP00000423499:G238A;ENSP00000423881:G190A;ENSP00000354171:G190A;ENSP00000295290:G190A;ENSP00000422394:G137A;ENSP00000425461:G137A;ENSP00000422425:G190A;ENSP00000425938:G190A;ENSP00000426286:G137A;ENSP00000421687:G137A	ENSP00000295290:G190A	G	+	2	0	PACRGL	20324220	1.000000	0.71417	0.937000	0.37676	0.832000	0.47134	7.083000	0.76859	2.674000	0.91012	0.655000	0.94253	GGT	PACRGL	-	pfam_Parkin_co-regulated_protein,superfamily_ARM-type_fold		0.418	PACRGL-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PACRGL	HGNC	protein_coding	OTTHUMT00000360321.2	G	NM_145048		20715122	+1	no_errors	ENST00000503585	ensembl	human	known	70_37	missense	SNP	0.998	C
PACS2	23241	genome.wustl.edu	37	14	105848350	105848350	+	Silent	SNP	C	C	T			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr14:105848350C>T	ENST00000325438.8	+	13	1872	c.1368C>T	c.(1366-1368)aaC>aaT	p.N456N	PACS2_ENST00000547217.1_Silent_p.N426N|PACS2_ENST00000447393.1_Silent_p.N456N|PACS2_ENST00000551743.1_5'Flank|PACS2_ENST00000458164.2_Silent_p.N456N|PACS2_ENST00000430725.2_Silent_p.N381N			Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	456					apoptotic process (GO:0006915)|autophagic vacuole assembly (GO:0000045)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to plasma membrane (GO:0072661)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GCCTGGACAACGAGCGCTGCC	0.716																																																	0													19.0	18.0	18.0					14																	105848350		2061	4089	6150	SO:0001819	synonymous_variant	23241			AB011174	CCDS32168.1, CCDS45178.1, CCDS45178.2, CCDS58339.1	14q32	2005-02-15	2005-02-15	2005-02-15		ENSG00000179364			23794	protein-coding gene	gene with protein product		610423	"""phosphofurin acidic cluster sorting protein 1-like"""	PACS1L		15692567	Standard	NM_001100913		Approved	KIAA0602	uc001yqu.3	Q86VP3	OTTHUMG00000170450	ENST00000325438.8:c.1368C>T	14.37:g.105848350C>T			A2VDJ9|G8JLK3|O60342|Q6P191|Q96FL7	Silent	SNP	pfam_Phosphofurin_acidic_CS-1	p.N456	ENST00000325438.8	37	c.1368	CCDS32168.1	14																																																																																			PACS2	-	NULL		0.716	PACS2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PACS2	HGNC	protein_coding	OTTHUMT00000409209.1	C	XM_377355		105848350	+1	no_errors	ENST00000458164	ensembl	human	known	70_37	silent	SNP	0.922	T
PRR23C	389152	genome.wustl.edu	37	3	138763254	138763254	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr3:138763254C>T	ENST00000413199.1	-	1	480	c.209G>A	c.(208-210)cGt>cAt	p.R70H	PRR23C_ENST00000502927.2_Missense_Mutation_p.R70H|MRPS22_ENST00000495075.1_Intron	NM_001134657.1	NP_001128129.1	Q6ZRP0	PR23C_HUMAN	proline rich 23C	70										breast(2)|lung(7)|skin(2)	11						CAGGGGCACACGCAGGGCACA	0.706																																																	0													15.0	20.0	19.0					3																	138763254		691	1590	2281	SO:0001583	missense	389152				CCDS46924.1	3q22.3	2014-06-03				ENSG00000233701			37173	protein-coding gene	gene with protein product							Standard	NM_001134657		Approved	FLJ46210	uc011bmt.1	Q6ZRP0		ENST00000413199.1:c.209G>A	3.37:g.138763254C>T	ENSP00000396648:p.Arg70His			Missense_Mutation	SNP	pfam_UPF0572	p.R70H	ENST00000413199.1	37	c.209	CCDS46924.1	3	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841783	0.32513	.	.	ENSG00000233701	ENST00000413199;ENST00000502927	.	.	.	3.16	0.28	0.15682	.	1.768580	0.03219	N	0.177240	T	0.32496	0.0831	L	0.47716	1.5	0.09310	N	1	D	0.54207	0.965	P	0.46585	0.521	T	0.18178	-1.0345	9	0.15499	T	0.54	.	2.5952	0.04852	0.2279:0.1345:0.0:0.6376	.	70	Q6ZRP0	PR23C_HUMAN	H	70	.	ENSP00000396648:R70H	R	-	2	0	PRR23C	140245944	0.196000	0.23350	0.017000	0.16124	0.003000	0.03518	0.826000	0.27407	0.119000	0.18210	-0.680000	0.03767	CGT	PRR23C	-	pfam_UPF0572		0.706	PRR23C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR23C	HGNC	protein_coding	OTTHUMT00000361502.1	C	NM_001134657		138763254	-1	no_errors	ENST00000413199	ensembl	human	known	70_37	missense	SNP	0.017	T
RASGRP4	115727	genome.wustl.edu	37	19	38905607	38905607	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr19:38905607C>T	ENST00000587738.1	-	9	1181	c.1111G>A	c.(1111-1113)Gac>Aac	p.D371N	RASGRP4_ENST00000454404.2_Missense_Mutation_p.D337N|RASGRP4_ENST00000293062.9_Missense_Mutation_p.D274N|RASGRP4_ENST00000586305.1_Missense_Mutation_p.D357N|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000433821.2_Intron|RASGRP4_ENST00000587753.1_Intron			Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	371	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				activation of phospholipase C activity (GO:0007202)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|myeloid cell differentiation (GO:0030099)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|response to extracellular stimulus (GO:0009991)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|GTP-dependent protein binding (GO:0030742)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGCGGCCGTCAGGCAACCTG	0.667																																																	0													24.0	30.0	28.0					19																	38905607		2061	4200	6261	SO:0001583	missense	115727			AY048119	CCDS46068.1, CCDS54262.1, CCDS54263.1, CCDS54264.1	19q13.1	2013-01-10						"""EF-hand domain containing"""	18958	protein-coding gene	gene with protein product		607320				11956218	Standard	NM_170604		Approved		uc021uub.1	Q8TDF6		ENST00000587738.1:c.1111G>A	19.37:g.38905607C>T	ENSP00000465772:p.Asp371Asn		A6H8M4|C0LTP2|C0LTP3|C0LTP4|C0LTP5|C0LTP7|C9J416|C9JHZ1|Q8N858|Q96QN5|Q96QN6|Q96QN7	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.D371N	ENST00000587738.1	37	c.1111	CCDS46068.1	19	.	.	.	.	.	.	.	.	.	.	C	24.9	4.586051	0.86748	.	.	ENSG00000171777	ENST00000293062;ENST00000405332;ENST00000454404	T	0.30981	1.51	4.81	4.81	0.61882	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.112700	0.64402	D	0.000014	T	0.33469	0.0864	N	0.16567	0.415	0.47819	D	0.999528	B;P;P;D	0.64830	0.236;0.606;0.918;0.994	B;B;P;D	0.66716	0.345;0.284;0.749;0.946	T	0.05468	-1.0883	10	0.39692	T	0.17	-18.0089	8.896	0.35465	0.0:0.9014:0.0:0.0986	.	274;337;357;371	C0LTP7;C0LTP4;Q8TDF6-2;Q8TDF6	.;.;.;GRP4_HUMAN	N	274;371;371	ENSP00000293062:D274N	ENSP00000293062:D274N	D	-	1	0	RASGRP4	43597447	0.994000	0.37717	0.988000	0.46212	0.994000	0.84299	5.497000	0.66924	2.483000	0.83821	0.561000	0.74099	GAC	RASGRP4	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.667	RASGRP4-013	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	RASGRP4	HGNC	protein_coding	OTTHUMT00000460540.1	C	NM_170604		38905607	-1	no_errors	ENST00000587738	ensembl	human	known	70_37	missense	SNP	0.983	T
RYR2	6262	genome.wustl.edu	37	1	237532889	237532889	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr1:237532889G>A	ENST00000366574.2	+	6	682	c.365G>A	c.(364-366)cGc>cAc	p.R122H	RYR2_ENST00000360064.6_Missense_Mutation_p.R120H|RYR2_ENST00000542537.1_Missense_Mutation_p.R106H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	122	MIR 1. {ECO:0000255|PROSITE- ProRule:PRU00131}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R120H(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATATTGCTGCGCCATTCCTAT	0.463																																																	1	Substitution - Missense(1)	central_nervous_system(1)											151.0	125.0	133.0					1																	237532889		1967	4162	6129	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.365G>A	1.37:g.237532889G>A	ENSP00000355533:p.Arg122His		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R120H	ENST00000366574.2	37	c.359	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.316181	0.95655	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.93659	-3.26;-3.26;-3.26	5.55	5.55	0.83447	Inositol 1,4,5-trisphosphate/ryanodine receptor (1);MIR motif (2);	0.000000	0.64402	D	0.000004	D	0.96738	0.8935	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	D	0.96962	0.9702	10	0.87932	D	0	.	18.6233	0.91328	0.0:0.0:1.0:0.0	.	122	Q92736	RYR2_HUMAN	H	122;120;106	ENSP00000355533:R122H;ENSP00000353174:R120H;ENSP00000443798:R106H	ENSP00000353174:R120H	R	+	2	0	RYR2	235599512	1.000000	0.71417	0.952000	0.39060	0.919000	0.55068	9.386000	0.97228	2.755000	0.94549	0.655000	0.94253	CGC	RYR2	-	pfam_Ins145_P3_rcpt,superfamily_MIR_motif,smart_MIR_motif,prints_Ryan_recept,pfscan_MIR_motif		0.463	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237532889	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	A
RYR2	6262	genome.wustl.edu	37	1	237758810	237758810	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr1:237758810C>A	ENST00000366574.2	+	34	4766	c.4449C>A	c.(4447-4449)agC>agA	p.S1483R	RYR2_ENST00000360064.6_Missense_Mutation_p.S1481R|RYR2_ENST00000542537.1_Missense_Mutation_p.S1467R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1483	4 X approximate repeats.|B30.2/SPRY 3. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAAACGCAGCAACTGCTATA	0.448																																																	0													80.0	83.0	82.0					1																	237758810		2020	4176	6196	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4449C>A	1.37:g.237758810C>A	ENSP00000355533:p.Ser1483Arg		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.S1481R	ENST00000366574.2	37	c.4443	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.414680	0.25465	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.60424	0.19;0.19;0.19	5.0	5.0	0.66597	SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.063755	0.64402	D	0.000018	T	0.56001	0.1956	L	0.39633	1.23	0.80722	D	1	P	0.52692	0.955	P	0.51701	0.677	T	0.48833	-0.9000	10	0.24483	T	0.36	-16.0796	11.8831	0.52586	0.0:0.9205:0.0:0.0795	.	1483	Q92736	RYR2_HUMAN	R	1483;1481;1467	ENSP00000355533:S1483R;ENSP00000353174:S1481R;ENSP00000443798:S1467R	ENSP00000353174:S1481R	S	+	3	2	RYR2	235825433	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.148000	0.31614	2.598000	0.87819	0.655000	0.94253	AGC	RYR2	-	pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.448	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237758810	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	A
SASH1	23328	genome.wustl.edu	37	6	148664255	148664255	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr6:148664255G>C	ENST00000367467.3	+	1	527	c.52G>C	c.(52-54)Gag>Cag	p.E18Q	SASH1_ENST00000367469.1_Intron	NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	18	Pro-rich.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		gcccgagcccgagccggagcc	0.766																																																	0													7.0	10.0	9.0					6																	148664255		2095	4195	6290	SO:0001583	missense	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.52G>C	6.37:g.148664255G>C	ENSP00000356437:p.Glu18Gln		Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.E18Q	ENST00000367467.3	37	c.52	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	G	16.71	3.198951	0.58126	.	.	ENSG00000111961	ENST00000367467	T	0.20069	2.1	3.55	1.67	0.24075	.	2.462120	0.01851	N	0.035905	T	0.03783	0.0107	N	0.08118	0	0.09310	N	1	B	0.26775	0.159	B	0.23852	0.049	T	0.25433	-1.0132	10	0.39692	T	0.17	-5.1947	5.4254	0.16423	0.2561:0.0:0.7439:0.0	.	18	O94885	SASH1_HUMAN	Q	18	ENSP00000356437:E18Q	ENSP00000356437:E18Q	E	+	1	0	SASH1	148705948	0.532000	0.26346	0.803000	0.32268	0.441000	0.31987	0.731000	0.26058	1.528000	0.49103	0.305000	0.20034	GAG	SASH1	-	NULL		0.766	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	G	NM_015278		148664255	+1	no_errors	ENST00000367467	ensembl	human	known	70_37	missense	SNP	0.001	C
SLC6A11	6538	genome.wustl.edu	37	3	10858057	10858057	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr3:10858057C>T	ENST00000254488.2	+	1	173	c.107C>T	c.(106-108)gCg>gTg	p.A36V	SLC6A11_ENST00000454147.1_Missense_Mutation_p.A36V	NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	36					brain development (GO:0007420)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	gamma-aminobutyric acid:sodium symporter activity (GO:0005332)|neurotransmitter binding (GO:0042165)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)	Clobazam(DB00349)	gcggcgcccgcgcgccacccg	0.736																																																	0													9.0	7.0	8.0					3																	10858057		2123	4115	6238	SO:0001583	missense	6538			S75989	CCDS2602.1	3p25.3	2013-07-19	2013-07-19		ENSG00000132164	ENSG00000132164		"""Solute carriers"""	11044	protein-coding gene	gene with protein product	"""GABA transporter 3"""	607952	"""solute carrier family 6 (neurotransmitter transporter, GABA), member 11"""			7874447	Standard	NM_014229		Approved	GAT3	uc003bvz.3	P48066	OTTHUMG00000129718	ENST00000254488.2:c.107C>T	3.37:g.10858057C>T	ENSP00000254488:p.Ala36Val		B2R6U6|Q8IYC9	Missense_Mutation	SNP	pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3	p.A36V	ENST00000254488.2	37	c.107	CCDS2602.1	3	.	.	.	.	.	.	.	.	.	.	C	5.871	0.344919	0.11126	.	.	ENSG00000132164	ENST00000254488;ENST00000454147	T;T	0.74106	-0.81;-0.4	2.23	0.344	0.16006	.	1.112630	0.07194	U	0.856267	T	0.49270	0.1547	N	0.08118	0	0.20196	N	0.99992	B	0.10296	0.003	B	0.06405	0.002	T	0.28170	-1.0052	10	0.23891	T	0.37	.	2.9602	0.05890	0.0:0.454:0.2389:0.3071	.	36	P48066	S6A11_HUMAN	V	36	ENSP00000254488:A36V;ENSP00000404120:A36V	ENSP00000254488:A36V	A	+	2	0	SLC6A11	10833057	0.940000	0.31905	0.179000	0.23059	0.237000	0.25408	0.000000	0.12993	0.069000	0.16605	0.205000	0.17691	GCG	SLC6A11	-	NULL		0.736	SLC6A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A11	HGNC	protein_coding	OTTHUMT00000251927.1	C	NM_014229		10858057	+1	no_errors	ENST00000254488	ensembl	human	known	70_37	missense	SNP	0.663	T
SMEK1	55671	genome.wustl.edu	37	14	91943285	91943285	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr14:91943285C>T	ENST00000554943.1	-	5	1076	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	SMEK1_ENST00000555462.1_Missense_Mutation_p.E82K|SMEK1_ENST00000337238.4_Missense_Mutation_p.E321K|SMEK1_ENST00000554684.1_Missense_Mutation_p.E321K|SMEK1_ENST00000428424.2_Missense_Mutation_p.E82K			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	321					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TCTGTTGCTTCATCTGTTAGT	0.358																																																	0													129.0	119.0	123.0					14																	91943285		2200	4297	6497	SO:0001583	missense	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.961G>A	14.37:g.91943285C>T	ENSP00000450883:p.Glu321Lys		Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.E321K	ENST00000554943.1	37	c.961		14	.	.	.	.	.	.	.	.	.	.	C	31	5.084165	0.94100	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390;ENST00000555029;ENST00000417249	T;T;T;T;T;T;T	0.32023	1.58;1.58;1.47;1.58;1.47;1.58;1.47	5.63	5.63	0.86233	Armadillo-like helical (1);Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45316	0.1336	L	0.41236	1.265	0.80722	D	1	D;P;P;P	0.56035	0.974;0.587;0.78;0.57	D;B;P;B	0.67725	0.953;0.225;0.604;0.193	T	0.06338	-1.0832	10	0.10636	T	0.68	-20.6559	20.0401	0.97581	0.0:1.0:0.0:0.0	.	82;321;321;321	Q6IN85-4;G3V5Z3;Q6IN85;Q6IN85-2	.;.;P4R3A_HUMAN;.	K	321;321;82;321;82;321;82;111	ENSP00000450864:E321K;ENSP00000337125:E321K;ENSP00000392704:E82K;ENSP00000450883:E321K;ENSP00000450891:E82K;ENSP00000452596:E321K;ENSP00000452257:E82K	ENSP00000337125:E321K	E	-	1	0	SMEK1	91013038	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.692000	0.84203	2.805000	0.96524	0.655000	0.94253	GAA	SMEK1	-	pfam_DUF625,superfamily_ARM-type_fold		0.358	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1	C	NM_032560		91943285	-1	no_errors	ENST00000554943	ensembl	human	known	70_37	missense	SNP	1.000	T
SNORD113-4	767564	genome.wustl.edu	37	14	101402840	101402840	+	RNA	SNP	G	G	A			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr14:101402840G>A	ENST00000364802.1	+	0	13				SNORD113-5_ENST00000607261.1_RNA|SNORD112_ENST00000516335.1_RNA	NR_003232.1				small nucleolar RNA, C/D box 113-4																		GACCAATGATGAGTACCATGG	0.323																																																	0													110.0	107.0	108.0					14																	101402840		876	1991	2867			767564					14q32.31	2013-09-05			ENSG00000201672	ENSG00000201672		"""ncRNAs / Small nucleolar RNAs : C/D box containing"""	32983	non-coding RNA	RNA, small nucleolar						12045206	Standard	NR_003232		Approved	14q(I-4)	uc001yil.3				14.37:g.101402840G>A				RNA	SNP	-	NULL	ENST00000364802.1	37	NULL		14																																																																																			SNORD113-4	-	-		0.323	SNORD113-4-201	KNOWN	basic	snoRNA	SNORD113-4	HGNC	snoRNA		G	NR_003232.1		101402840	+1	no_errors	ENST00000364802	ensembl	human	known	70_37	rna	SNP	1.000	A
TCFL5	10732	genome.wustl.edu	37	20	61473404	61473404	+	Silent	SNP	G	G	A			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr20:61473404G>A	ENST00000335351.3	-	6	1518	c.1426C>T	c.(1426-1428)Ctg>Ttg	p.L476L		NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	476					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)	male germ cell nucleus (GO:0001673)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					GGTCTGGTCAGCTTTAGCCTT	0.498																																																	0													111.0	92.0	98.0					20																	61473404		2203	4300	6503	SO:0001819	synonymous_variant	10732			AB012124	CCDS13506.1	20q13.33	2013-09-19			ENSG00000101190	ENSG00000101190		"""Basic helix-loop-helix proteins"""	11646	protein-coding gene	gene with protein product	"""HPV-16 E2 binding protein 1"""	604745				9763657	Standard	XM_005260185		Approved	Figlb, E2BP-1, CHA, bHLHe82	uc002ydp.3	Q9UL49	OTTHUMG00000032939	ENST00000335351.3:c.1426C>T	20.37:g.61473404G>A			O94771|Q9BYW0	Silent	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.L476	ENST00000335351.3	37	c.1426	CCDS13506.1	20																																																																																			TCFL5	-	NULL		0.498	TCFL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCFL5	HGNC	protein_coding	OTTHUMT00000080079.2	G	NM_006602		61473404	-1	no_errors	ENST00000335351	ensembl	human	known	70_37	silent	SNP	0.955	A
TFE3	7030	genome.wustl.edu	37	X	48889098	48889098	+	Intron	SNP	A	A	T			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chrX:48889098A>T	ENST00000315869.7	-	9	1396				TFE3_ENST00000487451.1_Intron	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3						humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GAAATGCCACATGAGGAGTTT	0.567			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																			Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0													14.0	13.0	13.0					X																	48889098		2180	4272	6452	SO:0001627	intron_variant	7030			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.1137-39T>A	X.37:g.48889098A>T			A8MZL6|Q5JU74|Q92757|Q92758|Q99964	RNA	SNP	-	NULL	ENST00000315869.7	37	NULL	CCDS14315.3	X																																																																																			TFE3	-	-		0.567	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFE3	HGNC	protein_coding	OTTHUMT00000058872.2	A	NM_006521		48889098	-1	no_errors	ENST00000495940	ensembl	human	known	70_37	rna	SNP	0.000	T
TNXB	7148	genome.wustl.edu	37	6	32029988	32029988	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr6:32029988A>C	ENST00000375244.3	-	20	7315	c.7114T>G	c.(7114-7116)Tac>Gac	p.Y2372D	TNXB_ENST00000375247.2_Missense_Mutation_p.Y2372D			P22105	TENX_HUMAN	tenascin XB	2434	Fibronectin type-III 16. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGGAAGCCGTACAGGTTCATC	0.637																																																	0													40.0	46.0	44.0					6																	32029988		1312	2566	3878	SO:0001583	missense	7148			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.7114T>G	6.37:g.32029988A>C	ENSP00000364393:p.Tyr2372Asp		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.Y2372D	ENST00000375244.3	37	c.7114		6	.	.	.	.	.	.	.	.	.	.	A	14.60	2.582764	0.46006	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57273	0.41;0.41	4.52	4.52	0.55395	.	0.000000	0.52532	D	0.000074	T	0.68081	0.2962	M	0.92026	3.265	0.28995	N	0.887801	D	0.89917	1.0	D	0.91635	0.999	T	0.67051	-0.5768	10	0.51188	T	0.08	.	11.37	0.49694	1.0:0.0:0.0:0.0	.	2372	P22105-3	.	D	2372	ENSP00000364393:Y2372D;ENSP00000364396:Y2372D	ENSP00000364393:Y2372D	Y	-	1	0	TNXB	32137966	0.676000	0.27567	0.993000	0.49108	0.219000	0.24729	5.098000	0.64548	1.656000	0.50722	0.533000	0.62120	TAC	TNXB	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.637	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	TNXB	HGNC	protein_coding	OTTHUMT00000268927.2	A	NM_019105		32029988	-1	no_errors	ENST00000375247	ensembl	human	known	70_37	missense	SNP	0.995	C
TTN	7273	genome.wustl.edu	37	2	179579022	179579022	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr2:179579022G>A	ENST00000591111.1	-	89	25752	c.25528C>T	c.(25528-25530)Ctc>Ttc	p.L8510F	TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L8827F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.L7583F|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12674					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TACTAACCGAGAACGGATAGC	0.388																																																	0													130.0	126.0	128.0					2																	179579022		1918	4129	6047	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25528C>T	2.37:g.179579022G>A	ENSP00000465570:p.Leu8510Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L7583F	ENST00000591111.1	37	c.22747		2	.	.	.	.	.	.	.	.	.	.	G	7.304	0.613560	0.14066	.	.	ENSG00000155657	ENST00000342992	T	0.47177	0.85	5.96	5.08	0.68730	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67429	0.2892	M	0.86805	2.84	0.80722	D	1	D	0.71674	0.998	P	0.60173	0.87	T	0.72603	-0.4243	9	0.87932	D	0	.	11.5778	0.50873	0.136:0.0:0.8639:0.0	.	8510	Q8WZ42	TITIN_HUMAN	F	7583	ENSP00000343764:L7583F	ENSP00000343764:L7583F	L	-	1	0	TTN	179287267	1.000000	0.71417	0.471000	0.27229	0.027000	0.11550	2.853000	0.48317	2.832000	0.97577	0.655000	0.94253	CTC	TTN	-	superfamily_RNaseH-like_dom,smart_Ig_sub		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179579022	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.956	A
UQCRFS1	7386	genome.wustl.edu	37	19	29699033	29699033	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr19:29699033T>C	ENST00000304863.4	-	2	669	c.247A>G	c.(247-249)Atc>Gtc	p.I83V		NM_006003.2	NP_005994.2	P47985	UCRI_HUMAN	ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1	83					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)	p.I83V(4)		endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Breast(6;0.0545)|Esophageal squamous(110;0.239)		Lung(7;0.092)			GGCACCTTGATGTCTGTGTGG	0.423																																																	4	Substitution - Missense(4)	endometrium(2)|kidney(2)											53.0	59.0	57.0					19																	29699033		2203	4299	6502	SO:0001583	missense	7386			BC010035	CCDS12415.1	19q12	2011-07-04			ENSG00000169021	ENSG00000169021	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12587	protein-coding gene	gene with protein product	"""cytochrome b-c1 complex subunit 5"""	191327				8088805	Standard	NM_006003		Approved	RIS1, RIP1, UQCR5, RISP	uc002nsd.2	P47985		ENST00000304863.4:c.247A>G	19.37:g.29699033T>C	ENSP00000306397:p.Ile83Val		A8K519|Q6NVX5|Q9UPH2	Missense_Mutation	SNP	pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Ubiquinol_cyt_Rdtase_TM,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su	p.I83V	ENST00000304863.4	37	c.247	CCDS12415.1	19	.	.	.	.	.	.	.	.	.	.	t	0.014	-1.596233	0.00857	.	.	ENSG00000169021	ENST00000304863	T	0.42131	0.98	5.42	-4.98	0.03019	Ubiquinol cytochrome reductase, transmembrane domain (3);	0.618499	0.17385	N	0.176150	T	0.22360	0.0539	N	0.16862	0.45	0.20764	N	0.999851	B	0.02656	0.0	B	0.14578	0.011	T	0.23976	-1.0173	10	0.08837	T	0.75	.	17.2071	0.86921	0.0:0.6778:0.0:0.3222	.	83	P47985	UCRI_HUMAN	V	83	ENSP00000306397:I83V	ENSP00000306397:I83V	I	-	1	0	UQCRFS1	34390873	0.987000	0.35691	0.084000	0.20598	0.009000	0.06853	0.184000	0.16939	-1.243000	0.02519	-3.117000	0.00062	ATC	UQCRFS1	-	pfam_Ubiquinol_cyt_Rdtase_TM,superfamily_Ubiquinol_cyt_Rdtase_TM		0.423	UQCRFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRFS1	HGNC	protein_coding	OTTHUMT00000458563.1	T	NM_006003		29699033	-1	no_errors	ENST00000304863	ensembl	human	known	70_37	missense	SNP	0.746	C
VCP	7415	genome.wustl.edu	37	9	35064274	35064274	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr9:35064274T>A	ENST00000358901.6	-	6	1480	c.585A>T	c.(583-585)gaA>gaT	p.E195D		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	195					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|aggresome assembly (GO:0070842)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|establishment of protein localization (GO:0045184)|positive regulation of Lys63-specific deubiquitinase activity (GO:1903007)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein K63-linked deubiquitination (GO:1903006)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein N-linked glycosylation via asparagine (GO:0018279)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|retrograde protein transport, ER to cytosol (GO:0030970)|translesion synthesis (GO:0019985)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Hrd1p ubiquitin ligase complex (GO:0000836)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|site of double-strand break (GO:0035861)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|deubiquitinase activator activity (GO:0035800)|lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|protein domain specific binding (GO:0019904)|protein phosphatase binding (GO:0019903)|ubiquitin-specific protease binding (GO:1990381)			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCAAGGACTCTTCCTCATCCT	0.448																																																	0													129.0	114.0	119.0					9																	35064274		2203	4300	6503	SO:0001583	missense	7415			AC004472	CCDS6573.1	9p13.3	2014-09-17	2011-01-25		ENSG00000165280	ENSG00000165280		"""ATPases / AAA-type"""	12666	protein-coding gene	gene with protein product		601023	"""valosin-containing protein"""			8595912, 7553851	Standard	NM_007126		Approved	IBMPFD, p97	uc003zvy.2	P55072	OTTHUMG00000019855	ENST00000358901.6:c.585A>T	9.37:g.35064274T>A	ENSP00000351777:p.Glu195Asp		B2R5T8|Q0V924|Q2TAI5|Q969G7|Q9UCD5	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase,tigrfam_ATPase_AAA_CDC48	p.E195D	ENST00000358901.6	37	c.585	CCDS6573.1	9	.	.	.	.	.	.	.	.	.	.	T	16.33	3.094238	0.56075	.	.	ENSG00000165280	ENST00000358901;ENST00000448530	D;D	0.96265	-3.96;-3.96	6.17	2.59	0.31030	.	0.000000	0.85682	D	0.000000	D	0.91482	0.7311	L	0.28556	0.865	0.58432	D	0.999999	B	0.12630	0.006	B	0.14578	0.011	D	0.86103	0.1557	10	0.66056	D	0.02	-26.901	7.6256	0.28210	0.0:0.44:0.0:0.56	.	195	P55072	TERA_HUMAN	D	195;150	ENSP00000351777:E195D;ENSP00000392088:E150D	ENSP00000351777:E195D	E	-	3	2	VCP	35054274	0.995000	0.38212	1.000000	0.80357	0.995000	0.86356	0.326000	0.19646	0.576000	0.29452	0.533000	0.62120	GAA	VCP	-	tigrfam_ATPase_AAA_CDC48		0.448	VCP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCP	HGNC	protein_coding	OTTHUMT00000052290.1	T	NM_007126		35064274	-1	no_errors	ENST00000358901	ensembl	human	known	70_37	missense	SNP	1.000	A
ZBTB17	7709	genome.wustl.edu	37	1	16268666	16268666	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr1:16268666C>T	ENST00000375743.4	-	16	2442	c.2210G>A	c.(2209-2211)cGa>cAa	p.R737Q	ZBTB17_ENST00000537142.1_Missense_Mutation_p.R655Q|ZBTB17_ENST00000375733.2_Missense_Mutation_p.R744Q	NM_003443.2	NP_003434.2	Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	737	Interaction with HCFC1.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|ectoderm development (GO:0007398)|endoplasmic reticulum unfolded protein response (GO:0030968)|gastrulation with mouth forming second (GO:0001702)|negative regulation of cell cycle (GO:0045786)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGTGGATTCGCACATGCTG	0.607																																																	0													83.0	74.0	77.0					1																	16268666		2203	4300	6503	SO:0001583	missense	7709			U20647	CCDS165.1, CCDS55576.1, CCDS72712.1	1p36.13	2013-01-08	2004-07-16	2004-07-16	ENSG00000116809	ENSG00000116809		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12936	protein-coding gene	gene with protein product		604084	"""zinc finger protein 151 (pHZ-67)"", ""zinc finger protein 60"""	ZNF151, ZNF60			Standard	NM_003443		Approved	MIZ1, pHZ-67	uc001axl.4	Q13105	OTTHUMG00000009377	ENST00000375743.4:c.2210G>A	1.37:g.16268666C>T	ENSP00000364895:p.Arg737Gln		A0AV07|B4DXB4|B7ZLQ9|F5H411|Q15932|Q5JYB2|Q9NUC9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R744Q	ENST00000375743.4	37	c.2231	CCDS165.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739250	0.89573	.	.	ENSG00000116809	ENST00000375743;ENST00000375733;ENST00000444654;ENST00000537142	T;T;T	0.15952	2.4;2.38;2.48	5.19	5.19	0.71726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.35307	0.0927	L	0.61036	1.89	0.80722	D	1	D;D;D	0.71674	0.987;0.993;0.998	P;P;P	0.60949	0.56;0.756;0.881	T	0.06409	-1.0828	10	0.72032	D	0.01	.	13.9936	0.64382	0.0:0.9246:0.0:0.0754	.	744;655;737	Q13105-2;F5H411;Q13105	.;.;ZBT17_HUMAN	Q	737;744;656;655	ENSP00000364895:R737Q;ENSP00000364885:R744Q;ENSP00000438529:R655Q	ENSP00000364885:R744Q	R	-	2	0	ZBTB17	16141253	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	4.564000	0.60830	2.393000	0.81446	0.563000	0.77884	CGA	ZBTB17	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.607	ZBTB17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB17	HGNC	protein_coding	OTTHUMT00000025998.1	C	NM_003443		16268666	-1	no_errors	ENST00000375733	ensembl	human	known	70_37	missense	SNP	1.000	T
ZDHHC8P1	150244	genome.wustl.edu	37	22	23733547	23733547	+	RNA	DEL	T	T	-	rs386820063|rs11326923|rs555973282|rs55990269	byFrequency	TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr22:23733547delT	ENST00000255890.4	-	0	1627									zinc finger, DHHC-type containing 8 pseudogene 1																		CCGTGAGGCCttttttttttt	0.547													|||unknown(NO_COVERAGE)	1747	0.348842	0.2564	0.3919	5008	,	,		16577	0.381		0.3986	False		,,,				2504	0.3589																0																																												150244					22q11.23	2010-02-25	2010-02-25	2010-02-25	ENSG00000133519	ENSG00000133519			26461	pseudogene	pseudogene			"""zinc finger, DHHC-type containing 8 pseudogene"""	ZDHHC8P			Standard	NR_003950		Approved	FLJ31568	uc002zwz.5		OTTHUMG00000150650		22.37:g.23733547delT				RNA	DEL	-	NULL	ENST00000255890.4	37	NULL		22																																																																																			ZDHHC8P1	-	-		0.547	ZDHHC8P1-001	KNOWN	basic	processed_transcript	ZDHHC8P1	HGNC	pseudogene	OTTHUMT00000319397.1	T	NR_003950		23733547	-1	no_errors	ENST00000255890	ensembl	human	known	70_37	rna	DEL	0.003	-
ZEB1	6935	genome.wustl.edu	37	10	31799694	31799694	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr10:31799694G>A	ENST00000320985.10	+	5	685	c.575G>A	c.(574-576)cGt>cAt	p.R192H	ZEB1_ENST00000361642.5_Missense_Mutation_p.R193H|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.R125H|ZEB1_ENST00000446923.2_Missense_Mutation_p.R176H|ZEB1_ENST00000560721.2_Missense_Mutation_p.R172H			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	192					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATTAAATATCGTCATGAAAAG	0.378																																					Ovarian(40;423 959 14296 36701 49589)												0													92.0	84.0	87.0					10																	31799694		2203	4300	6503	SO:0001583	missense	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.575G>A	10.37:g.31799694G>A	ENSP00000319248:p.Arg192His		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.R193H	ENST00000320985.10	37	c.578	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.415913	0.96092	.	.	ENSG00000148516	ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000424869;ENST00000543514;ENST00000446923	T;T;T;T;T	0.13901	2.56;2.61;2.55;2.58;2.61	5.83	5.83	0.93111	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000005	T	0.39886	0.1095	M	0.66939	2.045	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;0.999;0.997;0.997;0.997;0.999;0.997;0.997	T	0.06338	-1.0832	10	0.87932	D	0	-12.1654	20.1174	0.97942	0.0:0.0:1.0:0.0	.	125;192;176;192;192;172;193;192	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	H	192;193;192;125;192;172;51;193;83;176	ENSP00000354487:R193H;ENSP00000444891:R125H;ENSP00000319248:R192H;ENSP00000415961:R193H;ENSP00000391612:R176H	ENSP00000319248:R192H	R	+	2	0	ZEB1	31839700	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.420000	0.97426	2.771000	0.95319	0.591000	0.81541	CGT	ZEB1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	G	NM_030751		31799694	+1	no_errors	ENST00000361642	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF292	23036	genome.wustl.edu	37	6	87965710	87965710	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr6:87965710G>A	ENST00000369577.3	+	8	2406	c.2363G>A	c.(2362-2364)aGa>aAa	p.R788K	ZNF292_ENST00000339907.4_Missense_Mutation_p.R783K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	788						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AAATGTGGAAGAATTTTTTCG	0.348																																																	0													45.0	43.0	43.0					6																	87965710		1830	4090	5920	SO:0001583	missense	23036			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.2363G>A	6.37:g.87965710G>A	ENSP00000358590:p.Arg788Lys		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R788K	ENST00000369577.3	37	c.2363	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	G	6.983	0.551409	0.13374	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.35789	1.29;1.29	5.76	5.76	0.90799	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.086815	0.85682	D	0.000000	T	0.08492	0.0211	N	0.11255	0.115	0.34755	D	0.732144	B	0.31599	0.33	B	0.25884	0.064	T	0.08106	-1.0738	10	0.02654	T	1	.	19.9813	0.97326	0.0:0.0:1.0:0.0	.	788	O60281	ZN292_HUMAN	K	788;783	ENSP00000358590:R788K;ENSP00000342847:R783K	ENSP00000342847:R783K	R	+	2	0	ZNF292	88022429	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.392000	0.66272	2.726000	0.93360	0.655000	0.94253	AGA	ZNF292	-	smart_Znf_C2H2-like		0.348	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2	G	NM_015021		87965710	+1	no_errors	ENST00000369577	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF302	55900	genome.wustl.edu	37	19	35176129	35176129	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr19:35176129C>G	ENST00000446502.2	+	6	1527	c.1319C>G	c.(1318-1320)cCg>cGg	p.P440R	ZNF302_ENST00000423823.2_Missense_Mutation_p.P396R|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000505242.1_Missense_Mutation_p.P396R|ZNF302_ENST00000457781.2_Missense_Mutation_p.P396R			Q9NR11	ZN302_HUMAN	zinc finger protein 302	475					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAAGAAAAACCGTTTGAAGTT	0.338																																																	0													50.0	52.0	51.0					19																	35176129		2202	4300	6502	SO:0001583	missense	55900			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.1319C>G	19.37:g.35176129C>G	ENSP00000396379:p.Pro440Arg		Q658J3|Q9BZD8|Q9P0J4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P396R	ENST00000446502.2	37	c.1187		19	.	.	.	.	.	.	.	.	.	.	C	3.694	-0.063022	0.07273	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	T;T;T;T	0.05925	3.45;3.45;3.45;3.37	0.832	0.832	0.18867	.	.	.	.	.	T	0.22003	0.0530	M	0.81112	2.525	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	T	0.02736	-1.1117	9	0.87932	D	0	.	7.4953	0.27485	0.0:1.0:0.0:0.0	.	440;396	E7EVR1;Q9NR11-2	.;.	R	396;396;396;440	ENSP00000391067:P396R;ENSP00000421028:P396R;ENSP00000405219:P396R;ENSP00000396379:P440R	ENSP00000405219:P396R	P	+	2	0	ZNF302	39867969	0.987000	0.35691	0.471000	0.27229	0.008000	0.06430	3.708000	0.54845	0.737000	0.32582	0.313000	0.20887	CCG	ZNF302	-	pfscan_Znf_C2H2		0.338	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	ZNF302	HGNC	protein_coding	OTTHUMT00000372731.1	C			35176129	+1	no_errors	ENST00000423823	ensembl	human	known	70_37	missense	SNP	0.074	G
ZNF473	25888	genome.wustl.edu	37	19	50550227	50550227	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr19:50550227C>T	ENST00000595661.1	+	6	3022	c.2527C>T	c.(2527-2529)Cag>Tag	p.Q843*	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000270617.3_Nonsense_Mutation_p.Q843*|ZNF473_ENST00000391821.2_Nonsense_Mutation_p.Q843*|ZNF473_ENST00000445728.3_Nonsense_Mutation_p.Q831*			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	843					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GACACTTTATCAGTGTCAACG	0.532											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													63.0	66.0	65.0					19																	50550227		2203	4300	6503	SO:0001587	stop_gained	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2527C>T	19.37:g.50550227C>T	ENSP00000472808:p.Gln843*	970	A8K8T7|Q9ULS9|Q9Y4Q7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q843*	ENST00000595661.1	37	c.2527	CCDS33077.1	19	.	.	.	.	.	.	.	.	.	.	C	35	5.581002	0.96565	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	.	.	.	4.01	2.97	0.34412	.	0.000000	0.41001	D	0.000971	.	.	.	.	.	.	0.46279	D	0.998969	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-6.9382	5.217	0.15348	0.2014:0.6935:0.0:0.1051	.	.	.	.	X	843;843;831	.	ENSP00000270617:Q843X	Q	+	1	0	ZNF473	55242039	0.000000	0.05858	0.025000	0.17156	0.142000	0.21351	-2.662000	0.00850	1.267000	0.44247	0.655000	0.94253	CAG	ZNF473	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.532	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF473	HGNC	protein_coding	OTTHUMT00000464833.1	C	XM_046390		50550227	+1	no_errors	ENST00000270617	ensembl	human	known	70_37	nonsense	SNP	0.002	T
ZNF543	125919	genome.wustl.edu	37	19	57839193	57839193	+	Silent	SNP	C	C	G			TCGA-EA-A1QS-01A-61D-A22X-09	TCGA-EA-A1QS-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	b0b813af-27fe-4fe6-843b-18f877023df1	ef78763c-3449-4525-867e-197c045f98a6	g.chr19:57839193C>G	ENST00000321545.4	+	4	708	c.363C>G	c.(361-363)tcC>tcG	p.S121S		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TAGGGCAATCCAAGGATCAGG	0.512																																																	0													62.0	65.0	64.0					19																	57839193		2203	4300	6503	SO:0001819	synonymous_variant	125919			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.363C>G	19.37:g.57839193C>G			Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S121	ENST00000321545.4	37	c.363	CCDS33130.1	19																																																																																			ZNF543	-	NULL		0.512	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF543	HGNC	protein_coding	OTTHUMT00000465780.1	C	XM_064865		57839193	+1	no_errors	ENST00000321545	ensembl	human	known	70_37	silent	SNP	0.000	G
