#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
AAK1	22848	genome.wustl.edu	37	2	69709945	69709945	+	Splice_Site	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr2:69709945C>G	ENST00000409085.4	-	18	2742		c.e18-1		AAK1_ENST00000409068.1_Intron|AAK1_ENST00000406297.3_Splice_Site	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1						endocytosis (GO:0006897)|positive regulation of Notch signaling pathway (GO:0045747)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of clathrin-mediated endocytosis (GO:2000369)|regulation of protein localization (GO:0032880)	cell leading edge (GO:0031252)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extrinsic component of plasma membrane (GO:0019897)|terminal bouton (GO:0043195)	AP-2 adaptor complex binding (GO:0035612)|ATP binding (GO:0005524)|Notch binding (GO:0005112)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ATTAGTTTTTCTACGTTGGGC	0.398																																																	0													107.0	109.0	109.0					2																	69709945		1867	4122	5989	SO:0001630	splice_region_variant	22848			AB028971	CCDS1893.2	2p13.3	2012-07-10			ENSG00000115977	ENSG00000115977			19679	protein-coding gene	gene with protein product						11877461, 12471243	Standard	NM_014911		Approved	KIAA1048, DKFZp686K16132	uc002sfp.2	Q2M2I8	OTTHUMG00000129648	ENST00000409085.4:c.2366-1G>C	2.37:g.69709945C>G			Q4ZFZ3|Q53RX6|Q9UPV4	Splice_Site	SNP	-	e17-1	ENST00000409085.4	37	c.2366-1	CCDS1893.2	2	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823912	0.71143	.	.	ENSG00000115977	ENST00000409085;ENST00000406297	.	.	.	5.72	5.72	0.89469	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8713	0.92315	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AAK1	69563449	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	6.941000	0.75922	2.705000	0.92388	0.655000	0.94253	.	AAK1	-	-		0.398	AAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AAK1	HGNC	protein_coding	OTTHUMT00000251847.4	C	NM_014911	Intron	69709945	-1	no_errors	ENST00000409085	ensembl	human	known	70_37	splice_site	SNP	1.000	G
ABCC6P1	653190	genome.wustl.edu	37	16	18586122	18586122	+	RNA	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr16:18586122G>A	ENST00000546162.2	+	0	464					NR_003569.1				ATP-binding cassette, sub-family C, member 6 pseudogene 1 (functional)																		TACCTCCAGCGTGGCTGTCGC	0.527																																																	0																																												653190			BC075833		16p12.3	2014-09-11	2014-05-09		ENSG00000256340	ENSG00000256340		"""-"""	33352	pseudogene	pseudogene			"""ATP-binding cassette, sub-family C, member 6 pseudogene 1"""			18405356, 22873774	Standard	NR_003569		Approved		uc002dfg.3		OTTHUMG00000177192		16.37:g.18586122G>A				RNA	SNP	-	NULL	ENST00000546162.2	37	NULL		16																																																																																			ABCC6P1	-	-		0.527	ABCC6P1-004	KNOWN	basic	processed_transcript	ABCC6P1	HGNC	pseudogene	OTTHUMT00000435772.2	G	NR_003569		18586122	+1	no_errors	ENST00000546162	ensembl	human	known	70_37	rna	SNP	0.003	A
AKAP3	10566	genome.wustl.edu	37	12	4735970	4735970	+	Frame_Shift_Del	DEL	A	A	-	rs527978551|rs370203105|rs71441828|rs67512580|rs2041290	byFrequency	TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:4735970delA	ENST00000545990.2	-	5	2622	c.2098delT	c.(2098-2100)tctfs	p.S700fs	RP11-500M8.7_ENST00000536588.1_Intron|AKAP3_ENST00000228850.1_Frame_Shift_Del_p.S700fs	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	700			S -> F (in dbSNP:rs2041291).|S -> P (in dbSNP:rs2041290).	S -> L (in Ref. 2; AAC35854). {ECO:0000305}.	acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GCATCTCCAGACTTGTCATCT	0.502																																																	0										579,3685		38,503,1591	76.0	65.0	69.0			0.4	0.8	12	dbSNP_94	71	1072,7176		68,936,3120	no	frameshift	AKAP3	NM_006422.2		106,1439,4711	A1A1,A1R,RR		12.9971,13.5788,13.1953			4735970	1651,10861	2203	4300	6503	SO:0001589	frameshift_variant	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.2098delT	12.37:g.4735970delA	ENSP00000440994:p.Ser700fs		O75945|Q86X01|Q9UM61	Frame_Shift_Del	DEL	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.S700fs	ENST00000545990.2	37	c.2098	CCDS8531.1	12																																																																																			AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110		0.502	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	A	NM_006422		4735970	-1	no_errors	ENST00000228850	ensembl	human	known	70_37	frame_shift_del	DEL	0.745	-
ANTXRL	195977	genome.wustl.edu	37	10	47668656	47668656	+	Silent	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr10:47668656G>A	ENST00000447511.2	+	7	865	c.600G>A	c.(598-600)cgG>cgA	p.R200R	ANTXRL_ENST00000537271.1_Silent_p.R200R	NM_001278688.1	NP_001265617.1	A6NF34	ANTRL_HUMAN	anthrax toxin receptor-like	200	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)										AAAAGGCTCGGAAACTGGGGG	0.473																																																	0																																										SO:0001819	synonymous_variant	195977				CCDS60524.1	10q11.22	2014-04-11			ENSG00000198250	ENSG00000274209			27277	protein-coding gene	gene with protein product							Standard	NM_001278688		Approved			A6NF34	OTTHUMG00000188318	ENST00000447511.2:c.600G>A	10.37:g.47668656G>A			H3BPS2	Silent	SNP	pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.R200	ENST00000447511.2	37	c.600		10																																																																																			ANTXRL	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.473	ANTXRL-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	ANTXRL	HGNC	protein_coding	OTTHUMT00000047862.2	G	XM_113625		47668656	+1	no_errors	ENST00000537271	ensembl	human	known	70_37	silent	SNP	0.053	A
ATG4D	84971	genome.wustl.edu	37	19	10655726	10655726	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:10655726C>T	ENST00000309469.4	+	3	586	c.413C>T	c.(412-414)tCg>tTg	p.S138L	ATG4D_ENST00000540862.1_5'UTR	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	138					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGCCTGACCTCGGACTGTGGC	0.632																																																	0													95.0	102.0	99.0					19																	10655726		2203	4300	6503	SO:0001583	missense	84971			AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.413C>T	19.37:g.10655726C>T	ENSP00000311318:p.Ser138Leu		Q969K0	Missense_Mutation	SNP	pfam_Peptidase_C54	p.S138L	ENST00000309469.4	37	c.413	CCDS12241.1	19	.	.	.	.	.	.	.	.	.	.	C	16.87	3.242930	0.58995	.	.	ENSG00000130734	ENST00000309469	T	0.60424	0.19	4.84	4.84	0.62591	.	0.063063	0.64402	D	0.000010	T	0.66548	0.2800	M	0.87456	2.885	0.80722	D	1	B;B;B	0.30439	0.279;0.165;0.279	B;B;B	0.33196	0.159;0.024;0.103	T	0.72704	-0.4213	10	0.87932	D	0	-14.7744	16.6843	0.85301	0.0:1.0:0.0:0.0	.	75;161;138	B4DGM8;B7ZAY9;Q86TL0	.;.;ATG4D_HUMAN	L	138	ENSP00000311318:S138L	ENSP00000311318:S138L	S	+	2	0	ATG4D	10516726	1.000000	0.71417	0.965000	0.40720	0.070000	0.16714	7.364000	0.79526	2.221000	0.72209	0.643000	0.83706	TCG	ATG4D	-	pfam_Peptidase_C54		0.632	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG4D	HGNC	protein_coding	OTTHUMT00000452022.1	C	NM_032885		10655726	+1	no_errors	ENST00000309469	ensembl	human	known	70_37	missense	SNP	1.000	T
ATMIN	23300	genome.wustl.edu	37	16	81077959	81077959	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr16:81077959G>A	ENST00000299575.4	+	4	1880	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000564241.1_Missense_Mutation_p.G463E|ATMIN_ENST00000566488.1_Missense_Mutation_p.G463E	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	619					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						ACAAATCCTGGACCTGACACC	0.438																																																	0													37.0	38.0	37.0					16																	81077959		2202	4300	6502	SO:0001583	missense	23300			BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1856G>A	16.37:g.81077959G>A	ENSP00000299575:p.Gly619Glu		A8K4H8|Q68DC9	Missense_Mutation	SNP	smart_Znf_C2H2-like	p.G619E	ENST00000299575.4	37	c.1856	CCDS32494.1	16	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665563	0.67700	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.37752	1.18	6.17	4.18	0.49190	.	0.144183	0.64402	D	0.000007	T	0.33556	0.0867	M	0.75447	2.3	0.38845	D	0.956154	B	0.32829	0.386	B	0.24269	0.052	T	0.30851	-0.9964	10	0.72032	D	0.01	-12.1197	7.1813	0.25774	0.1789:0.1397:0.6814:0.0	.	619	O43313	ATMIN_HUMAN	E	619;390	ENSP00000299575:G619E	ENSP00000299575:G619E	G	+	2	0	ATMIN	79635460	0.982000	0.34865	0.992000	0.48379	0.995000	0.86356	2.098000	0.41757	0.892000	0.36259	0.655000	0.94253	GGA	ATMIN	-	NULL		0.438	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATMIN	HGNC	protein_coding	OTTHUMT00000432140.1	G	NM_015251		81077959	+1	no_errors	ENST00000299575	ensembl	human	known	70_37	missense	SNP	0.819	A
ATP5I	521	genome.wustl.edu	37	4	668037	668037	+	5'UTR	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr4:668037C>G	ENST00000304312.4	-	0	90				MYL5_ENST00000511290.1_5'Flank|ATP5I_ENST00000506525.1_5'Flank|MYL5_ENST00000505477.1_Intron|MYL5_ENST00000506838.1_5'UTR	NM_007100.3	NP_009031.1	P56385	ATP5I_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E						ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, coupling factor F(o) (GO:0000276)|mitochondrion (GO:0005739)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			lung(1)|skin(1)	2						GTGGCACCATCTTGTCCCTGA	0.677																																																	0													61.0	48.0	52.0					4																	668037		2201	4299	6500	SO:0001623	5_prime_UTR_variant	521			AB028624	CCDS3337.1	4p16.3	2012-10-12	2010-06-11		ENSG00000169020	ENSG00000169020		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	846	protein-coding gene	gene with protein product		601519	"""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit e"", ""ATP synthase, H+ transporting, mitochondrial F0 complex, subunit E"""			8702853	Standard	NM_007100		Approved		uc003gas.3	P56385	OTTHUMG00000086929	ENST00000304312.4:c.-1G>C	4.37:g.668037C>G			Q0D2L9	RNA	SNP	-	NULL	ENST00000304312.4	37	NULL	CCDS3337.1	4																																																																																			ATP5I	-	-		0.677	ATP5I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5I	HGNC	protein_coding	OTTHUMT00000195856.2	C			668037	-1	no_errors	ENST00000505852	ensembl	human	known	70_37	rna	SNP	0.942	G
BRSK1	84446	genome.wustl.edu	37	19	55815948	55815948	+	Silent	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:55815948G>A	ENST00000309383.1	+	14	1654	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P	BRSK1_ENST00000590333.1_Silent_p.P475P|BRSK1_ENST00000588584.1_3'UTR|BRSK1_ENST00000326848.7_Silent_p.P154P	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	459					axonogenesis (GO:0007409)|cellular response to DNA damage stimulus (GO:0006974)|centrosome duplication (GO:0051298)|establishment of cell polarity (GO:0030010)|G2 DNA damage checkpoint (GO:0031572)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|protein phosphorylation (GO:0006468)|response to UV (GO:0009411)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		CACCGGAGCCGGGGGCTGGAG	0.662																																																	0													6.0	7.0	7.0					19																	55815948		2120	4198	6318	SO:0001819	synonymous_variant	84446			AB058714	CCDS12921.1	19q13.4	2008-02-05				ENSG00000160469			18994	protein-coding gene	gene with protein product		609235				14976552	Standard	NM_032430		Approved	KIAA1811	uc002qkg.3	Q8TDC3		ENST00000309383.1:c.1377G>A	19.37:g.55815948G>A			F1DG44|Q5J5B5|Q8NDD0|Q8NDR4|Q8TDC2|Q96AV4|Q96JL4	Silent	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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.P475	ENST00000309383.1	37	c.1425	CCDS12921.1	19																																																																																			BRSK1	-	NULL		0.662	BRSK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRSK1	HGNC	protein_coding	OTTHUMT00000452787.1	G	NM_032430		55815948	+1	no_errors	ENST00000590333	ensembl	human	known	70_37	silent	SNP	0.025	A
BSDC1	55108	genome.wustl.edu	37	1	32841956	32841956	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:32841956C>G	ENST00000455895.2	-	9	1096	c.1063G>C	c.(1063-1065)Gag>Cag	p.E355Q	BSDC1_ENST00000463967.1_5'Flank|BSDC1_ENST00000526031.1_Missense_Mutation_p.E260Q|BSDC1_ENST00000419121.2_Missense_Mutation_p.E299Q|BSDC1_ENST00000413080.1_Missense_Mutation_p.E294Q|BSDC1_ENST00000341071.7_Missense_Mutation_p.E372Q|BSDC1_ENST00000449308.1_Missense_Mutation_p.E355Q|BSDC1_ENST00000446293.2_Missense_Mutation_p.E372Q	NM_001143888.1|NM_018045.6	NP_001137360.1|NP_060515.3	Q9NW68	BSDC1_HUMAN	BSD domain containing 1	355										breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CTCAGAGTCTCTACTCTGGCT	0.597																																																	0													71.0	79.0	76.0					1																	32841956		2203	4300	6503	SO:0001583	missense	55108			BX641056	CCDS363.2, CCDS44101.1, CCDS44102.1, CCDS44103.1, CCDS72752.1	1p35.1	2008-02-05			ENSG00000160058	ENSG00000160058			25501	protein-coding gene	gene with protein product						12477932	Standard	XM_005270985		Approved	FLJ10276, RP4-811H24.7	uc010ohg.2	Q9NW68	OTTHUMG00000007588	ENST00000455895.2:c.1063G>C	1.37:g.32841956C>G	ENSP00000412173:p.Glu355Gln		B4DMS7|B4DTI7|B4DTP7|B4E2X8|Q49AT8|Q68DY6|Q6IAA3|Q6MZK1|Q6UXS1|Q9HAL9	Missense_Mutation	SNP	pfam_BSD,smart_BSD,pfscan_BSD	p.E372Q	ENST00000455895.2	37	c.1114	CCDS363.2	1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.466403	0.84425	.	.	ENSG00000160058	ENST00000455895;ENST00000413080;ENST00000341071;ENST00000526031;ENST00000419121;ENST00000446293;ENST00000449308	.	.	.	4.87	4.87	0.63330	.	0.134780	0.64402	D	0.000002	T	0.75561	0.3866	M	0.61703	1.905	0.58432	D	0.999992	D;D;D;D;D	0.65815	0.995;0.977;0.977;0.992;0.978	D;P;P;D;P	0.64687	0.928;0.88;0.88;0.928;0.762	T	0.75153	-0.3418	9	0.44086	T	0.13	-20.1999	17.8787	0.88833	0.0:1.0:0.0:0.0	.	260;299;372;372;355	Q9NW68-9;Q9NW68-8;Q9NW68-7;Q9NW68-3;Q9NW68	.;.;.;.;BSDC1_HUMAN	Q	355;294;372;260;299;372;355	.	ENSP00000344816:E372Q	E	-	1	0	BSDC1	32614543	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.260000	0.65490	2.637000	0.89404	0.462000	0.41574	GAG	BSDC1	-	NULL		0.597	BSDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSDC1	HGNC	protein_coding	OTTHUMT00000020056.3	C	NM_018045		32841956	-1	no_errors	ENST00000341071	ensembl	human	known	70_37	missense	SNP	1.000	G
C11orf84	144097	genome.wustl.edu	37	11	63585350	63585350	+	Silent	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr11:63585350G>A	ENST00000294244.4	+	2	500	c.201G>A	c.(199-201)ccG>ccA	p.P67P		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	67										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						GTGAGGAGCCGAAGCAGCAGG	0.662																																																	0													55.0	48.0	50.0					11																	63585350		2200	4298	6498	SO:0001819	synonymous_variant	144097			BC007540	CCDS31594.1	11q13.1	2014-02-10			ENSG00000168005	ENSG00000168005			25115	protein-coding gene	gene with protein product						12477932	Standard	NM_138471		Approved		uc001nxt.3	Q9BUA3	OTTHUMG00000167746	ENST00000294244.4:c.201G>A	11.37:g.63585350G>A			Q68CV7|Q6PHS2|Q96IH0	Silent	SNP	NULL	p.P67	ENST00000294244.4	37	c.201	CCDS31594.1	11																																																																																			C11orf84	-	NULL		0.662	C11orf84-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf84	HGNC	protein_coding	OTTHUMT00000396084.1	G	NM_138471		63585350	+1	no_errors	ENST00000294244	ensembl	human	known	70_37	silent	SNP	0.095	A
C18orf61	497259	genome.wustl.edu	37	18	12211918	12211918	+	RNA	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr18:12211918C>T	ENST00000586882.1	+	0	125					NR_049896.1																						GATGATTTCTCAGCCAACAGT	0.363																																																	0																																												497259																															18.37:g.12211918C>T				RNA	SNP	-	NULL	ENST00000586882.1	37	NULL		18																																																																																			RP11-64C12.3	-	-		0.363	RP11-64C12.3-002	KNOWN	basic	processed_transcript	C18orf61	Clone_based_vega_gene	pseudogene	OTTHUMT00000452742.1	C			12211918	+1	no_errors	ENST00000586642	ensembl	human	known	70_37	rna	SNP	0.999	T
C1orf94	84970	genome.wustl.edu	37	1	34677980	34677980	+	Missense_Mutation	SNP	C	C	T	rs150314159		TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:34677980C>T	ENST00000488417.1	+	6	1814	c.1694C>T	c.(1693-1695)cCg>cTg	p.P565L	C1orf94_ENST00000373374.3_Missense_Mutation_p.P375L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	565										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGAGATGGACCGCAGTACCTC	0.567																																																	0								T	LEU/PRO,LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	77.0	67.0	71.0		1694,1124	4.3	0.9	1	dbSNP_134	71	0,8600		0,0,4300	no	missense,missense	C1orf94	NM_001134734.1,NM_032884.3	98,98	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	565/599,375/409	34677980	1,13005	2203	4300	6503	SO:0001583	missense	84970			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.1694C>T	1.37:g.34677980C>T	ENSP00000435634:p.Pro565Leu		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.P565L	ENST00000488417.1	37	c.1694	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	c	11.54	1.668777	0.29604	2.27E-4	0.0	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.27402	1.73;1.67	5.18	4.26	0.50523	.	0.206931	0.34362	N	0.004028	T	0.28830	0.0715	M	0.73962	2.25	0.46336	D	0.998994	P	0.37708	0.606	B	0.32465	0.146	T	0.06661	-1.0814	10	0.18710	T	0.47	-23.1099	10.0534	0.42230	0.0:0.9049:0.0:0.0951	.	565	Q6P1W5	CA094_HUMAN	L	375;565	ENSP00000362472:P375L;ENSP00000435634:P565L	ENSP00000362472:P375L	P	+	2	0	C1orf94	34450567	0.853000	0.29707	0.919000	0.36401	0.221000	0.24807	1.409000	0.34680	1.171000	0.42768	0.651000	0.88453	CCG	C1orf94	-	NULL		0.567	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	C	NM_032884		34677980	+1	no_errors	ENST00000488417	ensembl	human	known	70_37	missense	SNP	0.953	T
CACNA1E	777	genome.wustl.edu	37	1	181727095	181727095	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:181727095G>A	ENST00000367573.2	+	31	4342	c.4342G>A	c.(4342-4344)Gac>Aac	p.D1448N	CACNA1E_ENST00000357570.5_Missense_Mutation_p.D1399N|CACNA1E_ENST00000526775.1_Missense_Mutation_p.D1429N|CACNA1E_ENST00000360108.3_Missense_Mutation_p.D1429N|CACNA1E_ENST00000358338.5_Missense_Mutation_p.D1380N|CACNA1E_ENST00000367570.1_Missense_Mutation_p.D1448N|CACNA1E_ENST00000367567.4_Missense_Mutation_p.D1055N	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1448					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCGTGCATCGACTTCGCCAT	0.532																																																	0													142.0	148.0	146.0					1																	181727095		2133	4235	6368	SO:0001583	missense	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.4342G>A	1.37:g.181727095G>A	ENSP00000356545:p.Asp1448Asn		B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.D1448N	ENST00000367573.2	37	c.4342	CCDS55664.1	1	.	.	.	.	.	.	.	.	.	.	G	35	5.435775	0.96168	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.96554	-3.96;-3.96;-4.05;-3.96;-4.04;-4.05;-4.05	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.98280	0.9430	M	0.85197	2.74	0.80722	D	1	D;P;D	0.89917	0.987;0.899;1.0	D;P;D	0.83275	0.921;0.588;0.996	D	0.99349	1.0914	10	0.87932	D	0	.	18.5085	0.90907	0.0:0.0:1.0:0.0	.	1429;1448;1448	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	N	1448;1429;1399;1380;1055;1429;1448	ENSP00000356542:D1448N;ENSP00000434814:D1429N;ENSP00000350183:D1399N;ENSP00000351101:D1380N;ENSP00000356539:D1055N;ENSP00000353222:D1429N;ENSP00000356545:D1448N	ENSP00000350183:D1399N	D	+	1	0	CACNA1E	179993718	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.731000	0.98807	2.465000	0.83290	0.655000	0.94253	GAC	CACNA1E	-	NULL		0.532	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	G	NM_000721		181727095	+1	no_errors	ENST00000367573	ensembl	human	known	70_37	missense	SNP	1.000	A
CACNA1F	778	genome.wustl.edu	37	X	49087754	49087754	+	Silent	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chrX:49087754G>C	ENST00000376265.2	-	3	352	c.291C>G	c.(289-291)ctC>ctG	p.L97L	CACNA1F_ENST00000323022.5_Silent_p.L97L|CACNA1F_ENST00000376251.1_Silent_p.L32L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	97					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAGCAGGATGAGGATGTCGA	0.602																																																	0													80.0	53.0	62.0					X																	49087754		2150	4190	6340	SO:0001819	synonymous_variant	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.291C>G	X.37:g.49087754G>C			A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.L97	ENST00000376265.2	37	c.291	CCDS35253.1	X																																																																																			CACNA1F	-	NULL		0.602	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	G	NM_005183		49087754	-1	no_errors	ENST00000376265	ensembl	human	known	70_37	silent	SNP	1.000	C
CCDC117	150275	genome.wustl.edu	37	22	29177021	29177021	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr22:29177021G>C	ENST00000249064.4	+	3	501	c.325G>C	c.(325-327)Gag>Cag	p.E109Q	CCDC117_ENST00000421503.2_Intron|CCDC117_ENST00000448492.2_Missense_Mutation_p.E91Q|CCDC117_ENST00000443309.2_5'UTR	NM_001284263.1|NM_001284265.1|NM_173510.2	NP_001271192.1|NP_001271194.1|NP_775781.1	Q8IWD4	CC117_HUMAN	coiled-coil domain containing 117	109										breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1)	7						TCAGGATGTAGAGGGGCATGG	0.418																																																	0													122.0	105.0	111.0					22																	29177021		2203	4300	6503	SO:0001583	missense	150275			AK091133	CCDS13846.1, CCDS63435.1, CCDS63436.1	22q12.1	2006-06-27			ENSG00000159873	ENSG00000159873			26599	protein-coding gene	gene with protein product						12477932	Standard	NM_001284263		Approved	FLJ33814	uc003aeb.3	Q8IWD4	OTTHUMG00000151091	ENST00000249064.4:c.325G>C	22.37:g.29177021G>C	ENSP00000249064:p.Glu109Gln		A8K0F1|B7Z2V1|B7Z860|Q6ICA7|Q8N278	Missense_Mutation	SNP	NULL	p.E109Q	ENST00000249064.4	37	c.325	CCDS13846.1	22	.	.	.	.	.	.	.	.	.	.	G	17.45	3.392957	0.62066	.	.	ENSG00000159873	ENST00000249064;ENST00000444523;ENST00000448492	T;T;T	0.15603	2.41;2.41;2.41	5.49	3.34	0.38264	.	0.475050	0.20120	N	0.098821	T	0.11922	0.0290	L	0.27053	0.805	0.20638	N	0.999879	B;B	0.20261	0.043;0.043	B;B	0.17098	0.017;0.017	T	0.22382	-1.0218	10	0.33940	T	0.23	.	10.2523	0.43377	0.0:0.1472:0.6996:0.1532	.	91;109	B7Z860;Q8IWD4	.;CC117_HUMAN	Q	109;91;91	ENSP00000249064:E109Q;ENSP00000399536:E91Q;ENSP00000389478:E91Q	ENSP00000249064:E109Q	E	+	1	0	CCDC117	27507021	1.000000	0.71417	0.592000	0.28758	0.952000	0.60782	4.282000	0.58971	0.639000	0.30564	0.561000	0.74099	GAG	CCDC117	-	NULL		0.418	CCDC117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC117	HGNC	protein_coding	OTTHUMT00000321258.1	G	NM_173510		29177021	+1	no_errors	ENST00000249064	ensembl	human	known	70_37	missense	SNP	0.514	C
CCDC14	64770	genome.wustl.edu	37	3	123674792	123674792	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr3:123674792C>T	ENST00000488653.2	-	5	484	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K	CCDC14_ENST00000485727.1_5'UTR|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_5'UTR|CCDC14_ENST00000433542.2_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	132					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GATCTGTTTTCTAAATATGCT	0.274																																																	0																																										SO:0001583	missense	64770			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.394G>A	3.37:g.123674792C>T	ENSP00000420180:p.Glu132Lys		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.E132K	ENST00000488653.2	37	c.394		3	.	.	.	.	.	.	.	.	.	.	C	13.63	2.293996	0.40594	.	.	ENSG00000175455	ENST00000488653;ENST00000409697	T;T	0.46063	0.88;0.88	5.09	4.22	0.49857	.	.	.	.	.	T	0.32882	0.0844	.	.	.	0.80722	D	1	B	0.30851	0.297	B	0.27262	0.078	T	0.16394	-1.0404	8	0.48119	T	0.1	.	10.9113	0.47110	0.0:0.9119:0.0:0.0881	.	132	Q49A88	CCD14_HUMAN	K	132;113	ENSP00000420180:E132K;ENSP00000386866:E113K	ENSP00000386866:E113K	E	-	1	0	CCDC14	125157482	0.990000	0.36364	0.991000	0.47740	0.551000	0.35334	1.240000	0.32731	1.517000	0.48917	0.467000	0.42956	GAA	CCDC14	-	NULL		0.274	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		C	NM_022757		123674792	-1	no_errors	ENST00000488653	ensembl	human	known	70_37	missense	SNP	1.000	T
CDH4	1002	genome.wustl.edu	37	20	60498707	60498707	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr20:60498707G>A	ENST00000360469.5	+	10	1661	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	CDH4_ENST00000543233.1_Missense_Mutation_p.V451M	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	525	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCCCGGCACCGTGCTGACCAC	0.632																																																	0													63.0	54.0	57.0					20																	60498707		2203	4300	6503	SO:0001583	missense	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.1573G>A	20.37:g.60498707G>A	ENSP00000353656:p.Val525Met		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.V525M	ENST00000360469.5	37	c.1573	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	G	10.03	1.238671	0.22711	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.52295	0.67;0.67	4.72	4.72	0.59763	Cadherin (3);Cadherin-like (1);	0.256554	0.39834	N	0.001260	T	0.29620	0.0739	N	0.12637	0.245	0.09310	N	1	P	0.42518	0.782	B	0.39617	0.305	T	0.13845	-1.0494	9	.	.	.	.	13.434	0.61073	0.0:0.1577:0.8423:0.0	.	525	P55283	CADH4_HUMAN	M	525;433;451	ENSP00000353656:V525M;ENSP00000443301:V451M	.	V	+	1	0	CDH4	59932102	0.012000	0.17670	0.742000	0.31022	0.778000	0.44026	2.000000	0.40816	2.162000	0.67917	0.543000	0.68304	GTG	CDH4	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.632	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	G	NM_001794		60498707	+1	no_errors	ENST00000360469	ensembl	human	known	70_37	missense	SNP	0.149	A
CELSR3	1951	genome.wustl.edu	37	3	48698441	48698441	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr3:48698441G>T	ENST00000164024.4	-	1	1907	c.1627C>A	c.(1627-1629)Cct>Act	p.P543T	CELSR3_ENST00000544264.1_Missense_Mutation_p.P543T|RP11-148G20.1_ENST00000421275.1_RNA	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	543	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGAACTGAGGAGCATTGTCG	0.657																																																	0													59.0	46.0	50.0					3																	48698441		2203	4300	6503	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.1627C>A	3.37:g.48698441G>T	ENSP00000164024:p.Pro543Thr		O75092	Missense_Mutation	SNP	pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.P543T	ENST00000164024.4	37	c.1627	CCDS2775.1	3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617880	0.87359	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	D;D	0.85258	-1.96;-1.96	5.62	5.62	0.85841	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.96393	0.8823	H	0.99582	4.64	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.98111	1.0420	9	0.87932	D	0	.	19.6472	0.95784	0.0:0.0:1.0:0.0	.	543;613	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	T	543	ENSP00000164024:P543T;ENSP00000445694:P543T	ENSP00000164024:P543T	P	-	1	0	CELSR3	48673445	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	9.802000	0.99131	2.642000	0.89623	0.655000	0.94253	CCT	CELSR3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.657	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR3	HGNC	protein_coding	OTTHUMT00000257523.1	G	NM_001407		48698441	-1	no_errors	ENST00000544264	ensembl	human	known	70_37	missense	SNP	1.000	T
CFHR5	81494	genome.wustl.edu	37	1	196971786	196971786	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:196971786G>A	ENST00000256785.4	+	8	1431	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	CFHR5_ENST00000367414.5_Missense_Mutation_p.R465H			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	441	Sushi 7. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.R441L(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCATTACCACGCTGTGTTGGT	0.328																																																	1	Substitution - Missense(1)	lung(1)											73.0	77.0	76.0					1																	196971786		2203	4300	6503	SO:0001583	missense	81494			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1322G>A	1.37:g.196971786G>A	ENSP00000256785:p.Arg441His		Q2NKK2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.R465H	ENST00000256785.4	37	c.1394	CCDS1387.1	1	.	.	.	.	.	.	.	.	.	.	G	9.867	1.197922	0.22037	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.65178	-0.14;-0.14	3.62	-7.24	0.01475	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.46112	0.1376	L	0.49699	1.58	0.09310	N	1	P	0.37398	0.593	B	0.32533	0.147	T	0.23940	-1.0174	9	0.27785	T	0.31	.	9.4208	0.38550	0.2949:0.0:0.5898:0.1153	.	441	Q9BXR6	FHR5_HUMAN	H	465;441	ENSP00000356384:R465H;ENSP00000256785:R441H	ENSP00000256785:R441H	R	+	2	0	CFHR5	195238409	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.605000	0.00889	-2.581000	0.00462	-3.254000	0.00050	CGC	CFHR5	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.328	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	G	NM_030787		196971786	+1	no_errors	ENST00000367414	ensembl	human	known	70_37	missense	SNP	0.000	A
CGNL1	84952	genome.wustl.edu	37	15	57730626	57730626	+	Silent	SNP	G	G	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr15:57730626G>T	ENST00000281282.5	+	2	507	c.429G>T	c.(427-429)ctG>ctT	p.L143L		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	143	Head.					myosin complex (GO:0016459)|tight junction (GO:0005923)	motor activity (GO:0003774)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CTCACCTGCTGAACTTTCAGA	0.458																																																	0													57.0	57.0	57.0					15																	57730626		2192	4292	6484	SO:0001819	synonymous_variant	84952			AY274808	CCDS10161.1	15q21.3	2011-06-10			ENSG00000128849	ENSG00000128849			25931	protein-coding gene	gene with protein product		607856				11214970	Standard	NM_001252335		Approved	FLJ14957, JACOP, KIAA1749, paracingulin	uc002aeg.3	Q0VF96	OTTHUMG00000166485	ENST00000281282.5:c.429G>T	15.37:g.57730626G>T			Q05BZ4|Q52LR0|Q695C7|Q7Z2L3|Q96JV2|Q96MN6|Q9C0B4	Silent	SNP	pfam_Myosin_tail,prints_Tropomyosin	p.L143	ENST00000281282.5	37	c.429	CCDS10161.1	15																																																																																			CGNL1	-	NULL		0.458	CGNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGNL1	HGNC	protein_coding	OTTHUMT00000255482.2	G	NM_032866		57730626	+1	no_errors	ENST00000281282	ensembl	human	known	70_37	silent	SNP	0.989	T
COL16A1	1307	genome.wustl.edu	37	1	32162848	32162848	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:32162848C>G	ENST00000373672.3	-	7	1227	c.711G>C	c.(709-711)gaG>gaC	p.E237D	COL16A1_ENST00000373668.3_Missense_Mutation_p.E237D|COL16A1_ENST00000271069.6_Missense_Mutation_p.E237D	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	237	Nonhelical region 10 (NC10).				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CACAGCAGCCCTCCTCCAGCA	0.552																																					Colon(143;498 1786 21362 25193 36625)												0													30.0	34.0	33.0					1																	32162848		2069	4205	6274	SO:0001583	missense	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.711G>C	1.37:g.32162848C>G	ENSP00000362776:p.Glu237Asp		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.E237D	ENST00000373672.3	37	c.711	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	C	16.36	3.102769	0.56183	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.74526	-0.85;-0.85;-0.85	5.24	0.636	0.17729	Concanavalin A-like lectin/glucanase (1);	0.000000	0.85682	D	0.000000	T	0.76076	0.3937	L	0.38838	1.175	0.34839	D	0.740472	D;D;D	0.89917	1.0;0.993;0.996	D;D;D	0.83275	0.996;0.967;0.986	T	0.78690	-0.2106	10	0.87932	D	0	.	8.1087	0.30900	0.0:0.4966:0.0:0.5034	.	237;237;237	A6NCT7;Q07092;Q07092-2	.;COGA1_HUMAN;.	D	237	ENSP00000362776:E237D;ENSP00000271069:E237D;ENSP00000362772:E237D	ENSP00000271069:E237D	E	-	3	2	COL16A1	31935435	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	1.172000	0.31908	0.298000	0.22638	0.563000	0.77884	GAG	COL16A1	-	superfamily_ConA-like_lec_gl_sf		0.552	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	C	NM_001856		32162848	-1	no_errors	ENST00000271069	ensembl	human	known	70_37	missense	SNP	0.998	G
COL4A6	1288	genome.wustl.edu	37	X	107414135	107414135	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chrX:107414135C>T	ENST00000372216.4	-	34	3393	c.3293G>A	c.(3292-3294)aGa>aAa	p.R1098K	COL4A6_ENST00000545689.1_Missense_Mutation_p.R1097K|COL4A6_ENST00000538570.1_Missense_Mutation_p.R1097K|COL4A6_ENST00000394872.2_Missense_Mutation_p.R1098K|COL4A6_ENST00000334504.7_Missense_Mutation_p.R1097K	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1098	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TAGTCCATCTCTTCCTTTTGT	0.423									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)												0													177.0	146.0	156.0					X																	107414135		2203	4300	6503	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.3293G>A	X.37:g.107414135C>T	ENSP00000361290:p.Arg1098Lys		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.R1098K	ENST00000372216.4	37	c.3293	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	C	7.290	0.610785	0.14066	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23	5.21	1.61	0.23674	.	0.552796	0.15409	N	0.263886	T	0.81153	0.4763	N	0.17345	0.48	0.09310	N	1	B;B;B;B	0.16802	0.015;0.0;0.019;0.019	B;B;B;B	0.19666	0.019;0.001;0.026;0.014	T	0.64499	-0.6393	10	0.07482	T	0.82	.	0.383	0.00398	0.194:0.2754:0.1951:0.3356	.	1097;1097;1098;1097	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	K	1098;1097;1098;1097;1097;1097	ENSP00000361290:R1098K;ENSP00000334733:R1097K;ENSP00000378340:R1098K;ENSP00000443707:R1097K;ENSP00000445236:R1097K	ENSP00000334733:R1097K	R	-	2	0	COL4A6	107300791	0.000000	0.05858	0.148000	0.22405	0.023000	0.10783	0.025000	0.13577	0.330000	0.23485	-0.503000	0.04515	AGA	COL4A6	-	pfam_Collagen		0.423	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	C			107414135	-1	no_errors	ENST00000372216	ensembl	human	known	70_37	missense	SNP	0.000	T
PRR32	100130613	genome.wustl.edu	37	X	125954662	125954662	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chrX:125954662C>T	ENST00000371125.3	+	2	121	c.41C>T	c.(40-42)tCa>tTa	p.S14L		NM_001122716.1	NP_001116188.1	B1ATL7	PRR32_HUMAN		14																	CACGCCCCTTCACCCTTGGTA	0.473																																																	0													33.0	27.0	29.0					X																	125954662		692	1591	2283	SO:0001583	missense	100130613																														ENST00000371125.3:c.41C>T	X.37:g.125954662C>T	ENSP00000360166:p.Ser14Leu			Missense_Mutation	SNP	NULL	p.S14L	ENST00000371125.3	37	c.41	CCDS48163.1	X	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834940	0.50951	.	.	ENSG00000183631	ENST00000371125	T	0.48201	0.82	3.7	2.83	0.33086	.	.	.	.	.	T	0.48677	0.1513	L	0.32530	0.975	0.09310	N	1	D	0.54964	0.969	P	0.58454	0.839	T	0.28964	-1.0027	9	0.87932	D	0	.	5.9942	0.19485	0.0:0.8567:0.0:0.1433	.	14	B1ATL7	CX064_HUMAN	L	14	ENSP00000360166:S14L	ENSP00000360166:S14L	S	+	2	0	CXorf64	125782343	0.034000	0.19679	0.041000	0.18516	0.004000	0.04260	0.871000	0.28023	0.911000	0.36747	0.600000	0.82982	TCA	CXorf64	-	NULL		0.473	CXorf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf64	HGNC	protein_coding	OTTHUMT00000058188.1	C			125954662	+1	no_errors	ENST00000371125	ensembl	human	known	70_37	missense	SNP	0.040	T
DCLK1	9201	genome.wustl.edu	37	13	36700236	36700236	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr13:36700236G>T	ENST00000360631.3	-	2	250	c.39C>A	c.(37-39)gaC>gaA	p.D13E	DCLK1_ENST00000379892.4_Missense_Mutation_p.D13E|DCLK1_ENST00000255448.4_Missense_Mutation_p.D13E			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	13					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TATCCCGCTCGTCGAAGTGCT	0.597																																																	0													59.0	60.0	60.0					13																	36700236		2203	4300	6503	SO:0001583	missense	9201			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.39C>A	13.37:g.36700236G>T	ENSP00000353846:p.Asp13Glu		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.D13E	ENST00000360631.3	37	c.39		13	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759162	0.31137	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	T;T;T	0.67523	-0.27;-0.26;1.92	5.67	-2.9	0.05648	.	0.000000	0.85682	D	0.000000	T	0.48943	0.1528	L	0.37750	1.13	0.44323	D	0.997203	B	0.21821	0.061	B	0.30316	0.114	T	0.40942	-0.9536	10	0.06625	T	0.88	.	12.0014	0.53232	0.5966:0.0:0.4034:0.0	.	13	O15075-2	.	E	13	ENSP00000255448:D13E;ENSP00000353846:D13E;ENSP00000369222:D13E	ENSP00000255448:D13E	D	-	3	2	DCLK1	35598236	0.954000	0.32549	0.967000	0.41034	0.998000	0.95712	0.127000	0.15790	-0.466000	0.06943	0.655000	0.94253	GAC	DCLK1	-	NULL		0.597	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	G	NM_004734		36700236	-1	no_errors	ENST00000360631	ensembl	human	known	70_37	missense	SNP	0.998	T
DCP1A	55802	genome.wustl.edu	37	3	53321594	53321594	+	5'UTR	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr3:53321594C>T	ENST00000480258.1	-	0	1851				DCP1A_ENST00000606822.1_3'UTR|RN7SL821P_ENST00000579907.1_RNA|DCP1A_ENST00000607628.1_3'UTR|DCP1A_ENST00000294241.6_3'UTR			Q9NPI6	DCP1A_HUMAN	decapping mRNA 1A						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		TTATTCTGCTCCAGTCATAGG	0.428																																																	0													146.0	143.0	144.0					3																	53321594		1909	4130	6039	SO:0001623	5_prime_UTR_variant	55802			AJ275986	CCDS74946.1	3p21.1	2013-05-02	2013-05-02		ENSG00000162290	ENSG00000272886			18714	protein-coding gene	gene with protein product		607010	"""DCP1 decapping enzyme homolog A (S. cerevisiae)"""				Standard	XM_005278360		Approved	HSA275986, SMIF, SMAD4IP1	uc021wzi.1	Q9NPI6	OTTHUMG00000158193	ENST00000480258.1:c.-4147G>A	3.37:g.53321594C>T			B4DHN9|U3KQM8	RNA	SNP	-	NULL	ENST00000480258.1	37	NULL		3																																																																																			DCP1A	-	-		0.428	DCP1A-001	KNOWN	basic	processed_transcript	DCP1A	HGNC	protein_coding	OTTHUMT00000350374.2	C	NM_018403		53321594	-1	no_errors	ENST00000294241	ensembl	human	known	70_37	rna	SNP	0.650	T
DEPDC1B	55789	genome.wustl.edu	37	5	59940689	59940689	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr5:59940689G>A	ENST00000265036.5	-	5	659	c.592C>T	c.(592-594)Ctt>Ttt	p.L198F	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.L171F|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.L198F	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	198					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TCCAGGCCAAGAATTTTCTGT	0.289																																																	0													53.0	53.0	53.0					5																	59940689		2203	4298	6501	SO:0001583	missense	55789			AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.592C>T	5.37:g.59940689G>A	ENSP00000265036:p.Leu198Phe		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom	p.L198F	ENST00000265036.5	37	c.592	CCDS3977.1	5	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188191	0.78789	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.46063	1.61;1.33;0.88	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.64216	0.2578	M	0.79693	2.465	0.58432	D	0.999994	D;B	0.76494	0.999;0.405	D;B	0.77004	0.989;0.221	T	0.65869	-0.6063	9	.	.	.	-23.4802	11.2854	0.49218	0.109:0.0:0.891:0.0	.	198;198	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	F	198;198;171	ENSP00000265036:L198F;ENSP00000389101:L198F;ENSP00000438320:L171F	.	L	-	1	0	DEPDC1B	59976446	1.000000	0.71417	0.999000	0.59377	0.977000	0.68977	5.150000	0.64869	2.812000	0.96745	0.557000	0.71058	CTT	DEPDC1B	-	NULL		0.289	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC1B	HGNC	protein_coding	OTTHUMT00000214207.1	G	NM_018369		59940689	-1	no_errors	ENST00000265036	ensembl	human	known	70_37	missense	SNP	0.998	A
DHX37	57647	genome.wustl.edu	37	12	125432666	125432666	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:125432666C>T	ENST00000308736.2	-	26	3450	c.3352G>A	c.(3352-3354)Gaa>Aaa	p.E1118K	DHX37_ENST00000544745.1_Missense_Mutation_p.E905K	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1118							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGCAAGGCTTCATGGCAGTCA	0.612																																																	0													77.0	68.0	71.0					12																	125432666		2203	4300	6503	SO:0001583	missense	57647			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.3352G>A	12.37:g.125432666C>T	ENSP00000311135:p.Glu1118Lys		Q9BUI7|Q9P211	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1118K	ENST00000308736.2	37	c.3352	CCDS9261.1	12	.	.	.	.	.	.	.	.	.	.	C	5.333	0.246686	0.10130	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.03035	4.16;4.07	5.67	4.77	0.60923	.	0.487974	0.25593	N	0.029608	T	0.03739	0.0106	L	0.39245	1.2	0.09310	N	1	B;B	0.14438	0.002;0.01	B;B	0.12837	0.008;0.005	T	0.42616	-0.9441	10	0.13853	T	0.58	-11.8201	11.0963	0.48145	0.0:0.8579:0.0:0.1421	.	905;1118	F5H3Y4;Q8IY37	.;DHX37_HUMAN	K	1118;905	ENSP00000311135:E1118K;ENSP00000439009:E905K	ENSP00000311135:E1118K	E	-	1	0	DHX37	123998619	0.690000	0.27699	0.035000	0.18076	0.046000	0.14306	2.460000	0.45031	2.686000	0.91538	0.561000	0.74099	GAA	DHX37	-	NULL		0.612	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX37	HGNC	protein_coding		C	NM_032656		125432666	-1	no_errors	ENST00000308736	ensembl	human	known	70_37	missense	SNP	0.056	T
DISP1	84976	genome.wustl.edu	37	1	223176653	223176653	+	Silent	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:223176653G>A	ENST00000284476.6	+	8	2078	c.1914G>A	c.(1912-1914)ggG>ggA	p.G638G		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	638	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTTATGCGGGGACAGCTATAT	0.433																																																	0													114.0	105.0	108.0					1																	223176653		2203	4300	6503	SO:0001819	synonymous_variant	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1914G>A	1.37:g.223176653G>A			Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Silent	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.G638	ENST00000284476.6	37	c.1914	CCDS1536.1	1																																																																																			DISP1	-	pfam_Patched,pfam_MMPL-typ,pfscan_SSD		0.433	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	G	NM_032890		223176653	+1	no_errors	ENST00000284476	ensembl	human	known	70_37	silent	SNP	0.865	A
DNM1P46	196968	genome.wustl.edu	37	15	100340186	100340186	+	RNA	SNP	C	C	A	rs200975818	byFrequency	TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr15:100340186C>A	ENST00000341853.1	-	0	740					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CTCGTTCCCACGCGAGTCTCG	0.627																																																	0													16.0	17.0	17.0					15																	100340186		1378	3412	4790			196968			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340186C>A			Q3ZCN3	RNA	SNP	-	NULL	ENST00000341853.1	37	NULL		15																																																																																			DNM1P46	-	-		0.627	DNM1P46-002	KNOWN	basic	processed_transcript	DNM1P46	HGNC	pseudogene	OTTHUMT00000313543.1	C	NR_003260		100340186	-1	no_errors	ENST00000341853	ensembl	human	known	70_37	rna	SNP	0.981	A
EFCAB1	79645	genome.wustl.edu	37	8	49642371	49642371	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr8:49642371G>A	ENST00000262103.3	-	4	459	c.379C>T	c.(379-381)Cac>Tac	p.H127Y	EFCAB1_ENST00000433756.1_Missense_Mutation_p.H75Y|EFCAB1_ENST00000523092.1_Missense_Mutation_p.H75Y|EFCAB1_ENST00000521002.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	127	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TTCAACATGTGAAACATTTCC	0.333																																																	0													103.0	97.0	99.0					8																	49642371		2202	4300	6502	SO:0001583	missense	79645				CCDS6145.1, CCDS47853.1	8q11.21	2013-01-10			ENSG00000034239	ENSG00000034239		"""EF-hand domain containing"""	25678	protein-coding gene	gene with protein product						12477932	Standard	NM_024593		Approved	FLJ11767	uc003xqo.2	Q9HAE3	OTTHUMG00000164203	ENST00000262103.3:c.379C>T	8.37:g.49642371G>A	ENSP00000262103:p.His127Tyr		B4DSB4|E7EVN7	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2	p.H127Y	ENST00000262103.3	37	c.379	CCDS6145.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.974|5.974	0.363692|0.363692	0.11296|0.11296	.|.	.|.	ENSG00000034239|ENSG00000034239	ENST00000433756;ENST00000262103;ENST00000450553;ENST00000523092|ENST00000522254	T;T;T|.	0.71461|.	-0.57;-0.57;-0.57|.	5.46|5.46	5.46|5.46	0.80206|0.80206	EF-hand-like domain (1);|.	0.226096|.	0.53938|.	D|.	0.000058|.	T|T	0.61123|0.61123	0.2322|0.2322	L|L	0.41027|0.41027	1.25|1.25	0.46774|0.46774	D|D	0.999198|0.999198	B;B|.	0.26935|.	0.023;0.164|.	B;B|.	0.31614|.	0.036;0.133|.	T|T	0.54682|0.54682	-0.8257|-0.8257	10|5	0.40728|.	T|.	0.16|.	.|.	16.8609|16.8609	0.86018|0.86018	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	75;127|.	Q9HAE3-2;Q9HAE3|.	.;EFCB1_HUMAN|.	Y|L	75;127;127;75|44	ENSP00000400873:H75Y;ENSP00000262103:H127Y;ENSP00000430765:H75Y|.	ENSP00000262103:H127Y|.	H|S	-|-	1|2	0|0	EFCAB1|EFCAB1	49804924|49804924	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.295000|6.295000	0.72744|0.72744	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	CAC|TCA	EFCAB1	-	pfam_EF-hand,smart_EF_hand_Ca-bd,prints_Recoverin,pfscan_EF_HAND_2		0.333	EFCAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB1	HGNC	protein_coding	OTTHUMT00000377778.1	G	NM_024593		49642371	-1	no_errors	ENST00000262103	ensembl	human	known	70_37	missense	SNP	1.000	A
EHD2	30846	genome.wustl.edu	37	19	48229265	48229265	+	Nonsense_Mutation	SNP	C	C	A	rs576144192		TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:48229265C>A	ENST00000263277.3	+	4	950	c.699C>A	c.(697-699)taC>taA	p.Y233*	EHD2_ENST00000538399.1_Nonsense_Mutation_p.Y97*|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	233	Dynamin-type G.				blood coagulation (GO:0007596)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein localization to plasma membrane (GO:0072659)	caveola (GO:0005901)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TGCGCGTCTACGGCGCGCTCA	0.672																																																	0													37.0	30.0	32.0					19																	48229265		2203	4300	6503	SO:0001587	stop_gained	30846			AF181263	CCDS12704.1	19q13.3	2014-08-12			ENSG00000024422	ENSG00000024422		"""EF-hand domain containing"""	3243	protein-coding gene	gene with protein product		605890		PAST2		10673336	Standard	NM_014601		Approved		uc002phj.4	Q9NZN4	OTTHUMG00000183266	ENST00000263277.3:c.699C>A	19.37:g.48229265C>A	ENSP00000263277:p.Tyr233*		B2RDH9|B4DNU6|Q96CB6	Nonsense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.Y233*	ENST00000263277.3	37	c.699	CCDS12704.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.346329	0.95807	.	.	ENSG00000024422	ENST00000263277;ENST00000539439;ENST00000540364;ENST00000538399	.	.	.	3.66	-1.85	0.07784	.	0.151768	0.45361	D	0.000374	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7645	8.0388	0.30508	0.0:0.5013:0.0:0.4987	.	.	.	.	X	233;233;223;97	.	ENSP00000263277:Y233X	Y	+	3	2	EHD2	52921077	0.807000	0.29009	0.991000	0.47740	0.993000	0.82548	0.011000	0.13264	-0.456000	0.07043	0.456000	0.33151	TAC	EHD2	-	NULL		0.672	EHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD2	HGNC	protein_coding	OTTHUMT00000465851.1	C			48229265	+1	no_errors	ENST00000263277	ensembl	human	known	70_37	nonsense	SNP	1.000	A
EHMT2	10919	genome.wustl.edu	37	6	31864229	31864229	+	Silent	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr6:31864229C>T	ENST00000375537.4	-	4	399	c.393G>A	c.(391-393)aaG>aaA	p.K131K	C2_ENST00000469372.1_5'Flank|EHMT2_ENST00000395728.3_Silent_p.K188K|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Silent_p.K131K|EHMT2_ENST00000375528.4_Silent_p.K188K	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	131					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCATTGACATCTTGGCCCGGC	0.552																																																	0													95.0	111.0	105.0					6																	31864229		1509	2709	4218	SO:0001819	synonymous_variant	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.393G>A	6.37:g.31864229C>T			B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.K188	ENST00000375537.4	37	c.564	CCDS4725.1	6																																																																																			EHMT2	-	NULL		0.552	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	C	NM_006709		31864229	-1	no_errors	ENST00000395728	ensembl	human	known	70_37	silent	SNP	1.000	T
ELL	8178	genome.wustl.edu	37	19	18572462	18572462	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:18572462C>G	ENST00000262809.4	-	5	741	c.670G>C	c.(670-672)Gag>Cag	p.E224Q	ELL_ENST00000596124.3_Missense_Mutation_p.E91Q	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	224					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		AGCAGCAGCTCAGCCTTGCGG	0.682			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0													60.0	51.0	54.0					19																	18572462		2203	4300	6503	SO:0001583	missense	8178			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.670G>C	19.37:g.18572462C>G	ENSP00000262809:p.Glu224Gln	726		Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.E224Q	ENST00000262809.4	37	c.670	CCDS12380.1	19	.	.	.	.	.	.	.	.	.	.	C	19.25	3.791828	0.70452	.	.	ENSG00000105656	ENST00000262809	T	0.67345	-0.26	4.37	4.37	0.52481	.	0.000000	0.85682	D	0.000000	D	0.84179	0.5415	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.87896	0.2687	10	0.87932	D	0	-18.6962	16.0946	0.81112	0.0:1.0:0.0:0.0	.	168;224	Q59HG4;P55199	.;ELL_HUMAN	Q	224	ENSP00000262809:E224Q	ENSP00000262809:E224Q	E	-	1	0	ELL	18433462	1.000000	0.71417	0.932000	0.37286	0.155000	0.21991	7.370000	0.79589	2.272000	0.75746	0.555000	0.69702	GAG	ELL	-	pfam_RNA_pol_II_elong_fac_ELL		0.682	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL	HGNC	protein_coding	OTTHUMT00000466362.1	C	NM_006532		18572462	-1	no_errors	ENST00000262809	ensembl	human	known	70_37	missense	SNP	1.000	G
EMC3	55831	genome.wustl.edu	37	3	10050047	10050047	+	lincRNA	SNP	G	G	A	rs376614286		TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr3:10050047G>A	ENST00000383808.2	-	0	691																											AGGCACCAGGGCAAAAACCCA	0.577																																																	0								G		0,3760		0,0,1880	45.0	48.0	47.0			0.2	0.1	3		47	1,8215		0,1,4107	no	intron	LOC401052	NM_001008737.1		0,1,5987	AA,AG,GG		0.0122,0.0,0.0084			10050047	1,11975	1880	4108	5988			0																															3.37:g.10050047G>A				RNA	SNP	-	NULL	ENST00000383808.2	37	NULL		3																																																																																			AC022007.5	-	-		0.577	AC022007.5-001	KNOWN	basic	lincRNA	ENSG00000206567	Clone_based_vega_gene	lincRNA	OTTHUMT00000339469.1	G			10050047	-1	no_errors	ENST00000426698	ensembl	human	known	70_37	rna	SNP	0.143	A
FMNL1	752	genome.wustl.edu	37	17	43315909	43315909	+	Intron	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr17:43315909G>A	ENST00000331495.3	+	10	1230				CTD-2020K17.3_ENST00000393507.2_RNA|FMNL1_ENST00000592006.1_Intron|FMNL1_ENST00000587489.1_5'Flank|FMNL1_ENST00000328118.3_Intron|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1						actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GGGCCTCAGTGAGAGCCATTC	0.522																																					GBM(164;1247 1997 8702 11086 51972)												0													71.0	66.0	68.0					17																	43315909		2203	4300	6503	SO:0001627	intron_variant	0			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.895-22G>A	17.37:g.43315909G>A			D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	RNA	SNP	-	NULL	ENST00000331495.3	37	NULL	CCDS11497.1	17																																																																																			CTD-2020K17.3	-	-		0.522	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000233175	Clone_based_vega_gene	protein_coding	OTTHUMT00000450198.1	G	NM_005892		43315909	-1	no_errors	ENST00000587534	ensembl	human	known	70_37	rna	SNP	0.001	A
CMA1	1215	genome.wustl.edu	37	14	24977403	24977403	+	Silent	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr14:24977403C>T	ENST00000250378.3	-	1	68	c.39G>A	c.(37-39)ttG>ttA	p.L13L	CMA1_ENST00000206446.4_De_novo_Start_InFrame|RP11-80A15.1_ENST00000555109.1_Nonsense_Mutation_p.Q69*	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	13					angiotensin maturation (GO:0002003)|cellular protein metabolic process (GO:0044267)|cellular response to glucose stimulus (GO:0071333)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|interleukin-1 beta biosynthetic process (GO:0050720)|midbrain development (GO:0030901)|peptide metabolic process (GO:0006518)|positive regulation of angiogenesis (GO:0045766)|regulation of inflammatory response (GO:0050727)	extracellular region (GO:0005576)|intracellular (GO:0005622)	peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CTCTGGAGCACAAGAGAAAGA	0.473																																																	0													66.0	66.0	66.0					14																	24977403		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9630.1	14q12	2012-08-30			ENSG00000092009	ENSG00000092009	3.4.21.39		2097	protein-coding gene	gene with protein product		118938				8468056	Standard	NM_001836		Approved		uc001wpp.1	P23946	OTTHUMG00000140181	ENST00000250378.3:c.39G>A	14.37:g.24977403C>T			B5BUM8|Q16018|Q3SY36|Q3SY37|Q9UDH5	Nonsense_Mutation	SNP	NULL	p.Q69*	ENST00000250378.3	37	c.205	CCDS9630.1	14	.	.	.	.	.	.	.	.	.	.	C	10.71	1.426284	0.25726	.	.	ENSG00000258744	ENST00000555109	.	.	.	5.31	-9.04	0.00734	.	.	.	.	.	.	.	.	.	.	.	0.26158	N	0.98004	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.1974	0.06637	0.0993:0.2248:0.1951:0.4808	.	.	.	.	X	69	.	.	Q	+	1	0	RP11-80A15.1	24047243	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.219000	0.00553	-2.364000	0.00607	-0.773000	0.03387	CAA	RP11-80A15.1	-	NULL		0.473	CMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258744	Clone_based_vega_gene	protein_coding	OTTHUMT00000276535.2	C			24977403	+1	no_errors	ENST00000555109	ensembl	human	putative	70_37	nonsense	SNP	0.000	T
ERBB2IP	55914	genome.wustl.edu	37	5	65339981	65339981	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr5:65339981G>A	ENST00000284037.5	+	17	1834	c.1445G>A	c.(1444-1446)aGa>aAa	p.R482K	ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.R482K|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.R482K|ERBB2IP_ENST00000508515.1_Missense_Mutation_p.R482K|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.R482K|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.R482K|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.R482K|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.R482K|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.R482K	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	482					basal protein localization (GO:0045175)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell growth (GO:0016049)|epidermal growth factor receptor signaling pathway (GO:0007173)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|signal transduction (GO:0007165)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|hemidesmosome (GO:0030056)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ErbB-2 class receptor binding (GO:0005176)|integrin binding (GO:0005178)|structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		AATTTAAAAAGATATCCAACA	0.303																																																	0													64.0	69.0	67.0					5																	65339981		2203	4298	6501	SO:0001583	missense	55914				CCDS3990.1, CCDS34172.1, CCDS58951.1, CCDS58952.1, CCDS58953.1, CCDS58954.1	5p14.3-q12.3	2008-07-18	2001-11-29		ENSG00000112851	ENSG00000112851			15842	protein-coding gene	gene with protein product	"""densin-180-like protein"", ""ERBB2-interacting protein"""	606944	"""erbb2-interacting protein"""			10574462, 10878805	Standard	NM_001253697		Approved	ERBIN, LAP2	uc011cqx.2	Q96RT1	OTTHUMG00000097808	ENST00000284037.5:c.1445G>A	5.37:g.65339981G>A	ENSP00000284037:p.Arg482Lys		A0AVR1|B4E3F1|B7ZLV9|E7EQW9|E9PCR8|Q1RMD0|Q86W38|Q9NR18|Q9NW48|Q9ULJ5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.R482K	ENST00000284037.5	37	c.1445	CCDS58953.1	5	.	.	.	.	.	.	.	.	.	.	G	27.7	4.858255	0.91433	.	.	ENSG00000112851	ENST00000284037;ENST00000380943;ENST00000380939;ENST00000380936;ENST00000380935;ENST00000380938;ENST00000511297;ENST00000506030;ENST00000508515	T;T;T;T;T;T;T;T;T	0.12361	2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69;2.69	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.996;0.994;0.994;0.999;0.992	D;D;D;D;D;D;D	0.85130	0.995;0.997;0.986;0.977;0.97;0.997;0.986	T	0.04347	-1.0958	10	0.62326	D	0.03	.	17.8843	0.88849	0.0:0.0:1.0:0.0	.	482;482;482;482;482;482;482	Q96RT1-4;E9PCR8;B7ZLV9;E7EQW9;Q96RT1;Q96RT1-7;Q96RT1-2	.;.;.;.;LAP2_HUMAN;.;.	K	482	ENSP00000284037:R482K;ENSP00000370330:R482K;ENSP00000370326:R482K;ENSP00000370323:R482K;ENSP00000370322:R482K;ENSP00000370325:R482K;ENSP00000422766:R482K;ENSP00000426632:R482K;ENSP00000422015:R482K	ENSP00000284037:R482K	R	+	2	0	ERBB2IP	65375737	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.420000	0.97426	2.289000	0.77006	0.563000	0.77884	AGA	ERBB2IP	-	NULL		0.303	ERBB2IP-002	KNOWN	basic|CCDS	protein_coding	ERBB2IP	HGNC	protein_coding	OTTHUMT00000215070.1	G	NM_018695		65339981	+1	no_errors	ENST00000284037	ensembl	human	known	70_37	missense	SNP	1.000	A
ESPL1	9700	genome.wustl.edu	37	12	53687103	53687103	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:53687103G>C	ENST00000257934.4	+	31	6299	c.6208G>C	c.(6208-6210)Gac>Cac	p.D2070H	PFDN5_ENST00000551018.1_5'Flank|ESPL1_ENST00000552462.1_Missense_Mutation_p.D2070H|PFDN5_ENST00000334478.4_5'Flank|PFDN5_ENST00000550846.1_5'Flank|PFDN5_ENST00000351500.3_5'Flank	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2070					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CCGCGACATTGACCGCTACAC	0.532																																					Colon(53;1069 1201 2587 5382)												0													60.0	60.0	60.0					12																	53687103		2203	4300	6503	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.6208G>C	12.37:g.53687103G>C	ENSP00000257934:p.Asp2070His			Missense_Mutation	SNP	pfam_Peptidase_C50	p.D2070H	ENST00000257934.4	37	c.6208	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224755	0.79576	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.68025	-0.3;-0.3	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	D	0.84615	0.5511	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.87507	0.2437	10	0.87932	D	0	.	17.2395	0.87009	0.0:0.0:1.0:0.0	.	2070	Q14674	ESPL1_HUMAN	H	2070;1745;2070	ENSP00000257934:D2070H;ENSP00000449831:D2070H	ENSP00000257934:D2070H	D	+	1	0	ESPL1	51973370	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	9.207000	0.95064	2.692000	0.91855	0.563000	0.77884	GAC	ESPL1	-	NULL		0.532	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	HGNC	protein_coding	OTTHUMT00000406899.2	G	NM_012291		53687103	+1	no_errors	ENST00000257934	ensembl	human	known	70_37	missense	SNP	1.000	C
EXOSC10	5394	genome.wustl.edu	37	1	11126779	11126779	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:11126779C>G	ENST00000376936.4	-	25	2703	c.2654G>C	c.(2653-2655)aGa>aCa	p.R885T	EXOSC10_ENST00000304457.7_Missense_Mutation_p.R860T|EXOSC10_ENST00000544779.1_3'UTR|RP4-635E18.7_ENST00000452378.1_RNA	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	885					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCAGGACTATCTCTGTGGCCA	0.443																																					Colon(179;105 1987 14326 27364 29542)												0													89.0	90.0	90.0					1																	11126779		2203	4300	6503	SO:0001583	missense	5394			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.2654G>C	1.37:g.11126779C>G	ENSP00000366135:p.Arg885Thr		B1AKQ0|B1AKQ1|Q15158	Missense_Mutation	SNP	pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C	p.R885T	ENST00000376936.4	37	c.2654	CCDS30584.1	1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.642754	0.87859	.	.	ENSG00000171824	ENST00000376936;ENST00000304457	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.68183	0.2973	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.987;0.997	T	0.71293	-0.4636	9	0.87932	D	0	.	16.0161	0.80441	0.0:1.0:0.0:0.0	.	860;885	Q01780-2;Q01780	.;EXOSX_HUMAN	T	885;860	.	ENSP00000307307:R860T	R	-	2	0	EXOSC10	11049366	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	5.751000	0.68720	2.453000	0.82957	0.655000	0.94253	AGA	EXOSC10	-	NULL		0.443	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	HGNC	protein_coding	OTTHUMT00000006078.1	C	NM_001001998		11126779	-1	no_errors	ENST00000376936	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM179B	23116	genome.wustl.edu	37	14	45465012	45465012	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr14:45465012G>A	ENST00000361577.3	+	2	2324	c.2110G>A	c.(2110-2112)Gat>Aat	p.D704N	FAM179B_ENST00000382233.2_Missense_Mutation_p.D704N|KLHL28_ENST00000553817.1_Intron|FAM179B_ENST00000361462.2_Missense_Mutation_p.D704N	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	704										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GCCAGTCAATGATGATTTATG	0.318																																																	0													92.0	90.0	91.0					14																	45465012		2203	4300	6503	SO:0001583	missense	23116			AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.2110G>A	14.37:g.45465012G>A	ENSP00000355045:p.Asp704Asn		Q68D66|Q6PG27	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D704N	ENST00000361577.3	37	c.2110	CCDS9681.1	14	.	.	.	.	.	.	.	.	.	.	G	25.8	4.672511	0.88348	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233;ENST00000555874	T;T;T;T	0.04015	3.73;3.73;3.73;3.73	5.42	5.42	0.78866	Armadillo-type fold (1);	0.000000	0.56097	D	0.000028	T	0.12561	0.0305	L	0.27053	0.805	0.40482	D	0.98045	D;D;D;D	0.76494	0.991;0.999;0.996;0.991	P;D;D;P	0.72338	0.895;0.977;0.922;0.895	T	0.03453	-1.1035	10	0.72032	D	0.01	-17.1076	15.924	0.79597	0.0:0.0:1.0:0.0	.	704;704;704;704	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	N	704;704;704;704;23	ENSP00000355045:D704N;ENSP00000354917:D704N;ENSP00000371668:D704N;ENSP00000451141:D23N	ENSP00000354917:D704N	D	+	1	0	FAM179B	44534762	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.462000	0.66707	2.554000	0.86153	0.585000	0.79938	GAT	FAM179B	-	superfamily_ARM-type_fold		0.318	FAM179B-001	KNOWN	basic|CCDS	protein_coding	FAM179B	HGNC	protein_coding	OTTHUMT00000276791.1	G	XM_113781		45465012	+1	no_errors	ENST00000361577	ensembl	human	known	70_37	missense	SNP	1.000	A
FREM2	341640	genome.wustl.edu	37	13	39264032	39264032	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr13:39264032G>C	ENST00000280481.7	+	1	2767	c.2551G>C	c.(2551-2553)Gag>Cag	p.E851Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	851					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GAGTGAGACAGAGTTGCACGT	0.502																																																	0													115.0	107.0	110.0					13																	39264032		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.2551G>C	13.37:g.39264032G>C	ENSP00000280481:p.Glu851Gln		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.E851Q	ENST00000280481.7	37	c.2551	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	9.158	1.018040	0.19355	.	.	ENSG00000150893	ENST00000280481	T	0.29142	1.58	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	M	0.84082	2.675	0.80722	D	1	P	0.36660	0.564	B	0.38327	0.271	T	0.35001	-0.9806	10	0.20046	T	0.44	.	20.0609	0.97674	0.0:0.0:1.0:0.0	.	851	Q5SZK8	FREM2_HUMAN	Q	851	ENSP00000280481:E851Q	ENSP00000280481:E851Q	E	+	1	0	FREM2	38162032	1.000000	0.71417	0.957000	0.39632	0.476000	0.33039	9.864000	0.99589	2.755000	0.94549	0.655000	0.94253	GAG	FREM2	-	NULL		0.502	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	G	NM_207361		39264032	+1	no_errors	ENST00000280481	ensembl	human	known	70_37	missense	SNP	1.000	C
GAB3	139716	genome.wustl.edu	37	X	153940975	153940975	+	Splice_Site	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chrX:153940975G>C	ENST00000369575.3	-	4	626	c.595C>G	c.(595-597)Cta>Gta	p.L199V	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Splice_Site_p.L200V	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	199					macrophage differentiation (GO:0030225)					NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTGGTGGGTAGACTGGGGAAG	0.507																																																	0													43.0	39.0	40.0					X																	153940975		2203	4299	6502	SO:0001630	splice_region_variant	139716			AY057989	CCDS14760.1, CCDS48198.1, CCDS65357.1	Xq28	2013-01-10			ENSG00000160219	ENSG00000160219		"""Pleckstrin homology (PH) domain containing"""	17515	protein-coding gene	gene with protein product	"""DOS/Gab family member 3"", ""Gab3 scaffolding protein"""	300482				11739737	Standard	XM_005274648		Approved		uc004fmk.1	Q8WWW8	OTTHUMG00000024245	ENST00000369575.3:c.594-1C>G	X.37:g.153940975G>C			A6NHF8|E9PB44	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L200V	ENST00000369575.3	37	c.598	CCDS14760.1	X	.	.	.	.	.	.	.	.	.	.	G	5.948	0.358979	0.11239	.	.	ENSG00000160219	ENST00000369575;ENST00000369568;ENST00000424127	T;T;T	0.19532	2.14;2.14;2.14	5.53	1.24	0.21308	.	0.812380	0.10805	N	0.632275	T	0.18593	0.0446	M	0.73962	2.25	0.09310	N	0.999999	B;P;P	0.39282	0.267;0.666;0.666	B;B;B	0.33339	0.058;0.162;0.162	T	0.22173	-1.0224	10	0.07175	T	0.84	-16.2909	9.0138	0.36157	0.0875:0.375:0.5375:0.0	.	200;200;199	A6NHF8;E9PB44;Q8WWW8	.;.;GAB3_HUMAN	V	199;200;200	ENSP00000358588:L199V;ENSP00000358581:L200V;ENSP00000399588:L200V	ENSP00000358581:L200V	L	-	1	2	GAB3	153594169	0.999000	0.42202	0.994000	0.49952	0.477000	0.33069	1.839000	0.39220	0.464000	0.27142	0.506000	0.49869	CTA	GAB3	-	NULL		0.507	GAB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GAB3	HGNC	protein_coding	OTTHUMT00000061192.2	G	NM_001081573	Missense_Mutation	153940975	-1	no_errors	ENST00000424127	ensembl	human	known	70_37	missense	SNP	0.099	C
GGACT	87769	genome.wustl.edu	37	13	101184684	101184684	+	Silent	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr13:101184684C>T	ENST00000376250.2	-	3	556	c.162G>A	c.(160-162)ctG>ctA	p.L54L	GGACT_ENST00000455100.1_Silent_p.L54L			Q9BVM4	GGACT_HUMAN	gamma-glutamylamine cyclotransferase	54					cellular modified amino acid catabolic process (GO:0042219)	extracellular vesicular exosome (GO:0070062)	gamma-glutamylcyclotransferase activity (GO:0003839)										CGGGCAGGTGCAGCAGCCACG	0.711																																																	0													8.0	14.0	12.0					13																	101184684		683	1577	2260	SO:0001819	synonymous_variant	87769				CCDS45066.1	13q32.3	2012-09-27	2012-09-27	2012-09-27	ENSG00000134864	ENSG00000134864	2.3.2.4		25100	protein-coding gene	gene with protein product		613378	"""AIG2-like domain 1"""	A2LD1		20110353	Standard	NM_001195087		Approved		uc001voq.2	Q9BVM4	OTTHUMG00000017291	ENST00000376250.2:c.162G>A	13.37:g.101184684C>T			B3KTN1|Q9BT41	Silent	SNP	pfam_AIG2-like	p.L54	ENST00000376250.2	37	c.162	CCDS45066.1	13																																																																																			GGACT	-	pfam_AIG2-like		0.711	GGACT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGACT	HGNC	protein_coding	OTTHUMT00000045655.2	C	NM_033110		101184684	-1	no_errors	ENST00000376250	ensembl	human	known	70_37	silent	SNP	0.837	T
GRHL3	57822	genome.wustl.edu	37	1	24668628	24668628	+	Silent	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:24668628G>C	ENST00000350501.5	+	9	1198	c.1071G>C	c.(1069-1071)ctG>ctC	p.L357L	GRHL3_ENST00000236255.4_Silent_p.L362L|GRHL3_ENST00000361548.4_Silent_p.L357L|GRHL3_ENST00000342072.4_Silent_p.L264L|GRHL3_ENST00000356046.2_Silent_p.L311L	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	357					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TAAACTGTCTGAGCACAGACT	0.587																																																	0													112.0	114.0	113.0					1																	24668628		2203	4300	6503	SO:0001819	synonymous_variant	57822			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1071G>C	1.37:g.24668628G>C			A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Silent	SNP	pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.L357	ENST00000350501.5	37	c.1071	CCDS252.2	1																																																																																			GRHL3	-	pfam_CP2		0.587	GRHL3-002	KNOWN	basic|CCDS	protein_coding	GRHL3	HGNC	protein_coding	OTTHUMT00000009047.2	G	NM_021180		24668628	+1	no_errors	ENST00000350501	ensembl	human	known	70_37	silent	SNP	1.000	C
HERC2P3	283755	genome.wustl.edu	37	15	20588705	20588705	+	RNA	SNP	C	C	A	rs4931826	byFrequency	TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr15:20588705C>A	ENST00000428453.1	-	0	4045							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)	p.R1119I(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TCTGGACATTCTTTCCTGAAA	0.299																																																	1	Substitution - Missense(1)	stomach(1)						C		1378,2984		24,1330,827	112.0	81.0	92.0			-2.3	0.0	15	dbSNP_111	92	2012,6468		5,2002,2233	no	intergenic				29,3332,3060	AA,AC,CC		23.7264,31.591,26.3978			20588705	3390,9452	2181	4240	6421			283755			AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20588705C>A				RNA	SNP	-	NULL	ENST00000428453.1	37	NULL		15																																																																																			HERC2P3	-	-		0.299	HERC2P3-014	KNOWN	basic	processed_transcript	HERC2P3	HGNC	pseudogene	OTTHUMT00000347772.2	C	NG_008269		20588705	-1	no_errors	ENST00000426501	ensembl	human	known	70_37	rna	SNP	0.000	A
HIF3A	64344	genome.wustl.edu	37	19	46815449	46815449	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:46815449G>C	ENST00000377670.4	+	7	833	c.802G>C	c.(802-804)Gac>Cac	p.D268H	HIF3A_ENST00000339613.2_Missense_Mutation_p.D212H|HIF3A_ENST00000472815.1_Missense_Mutation_p.D199H|HIF3A_ENST00000244303.6_Missense_Mutation_p.D199H|HIF3A_ENST00000525854.1_3'UTR|HIF3A_ENST00000420102.2_Missense_Mutation_p.D217H|HIF3A_ENST00000600383.1_Missense_Mutation_p.D199H|HIF3A_ENST00000300862.3_Missense_Mutation_p.D266H	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	268	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		TAGTCCCGATGACCTGATCGG	0.597																																																	0													155.0	141.0	145.0					19																	46815449		2203	4300	6503	SO:0001583	missense	64344			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.802G>C	19.37:g.46815449G>C	ENSP00000366898:p.Asp268His		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS	p.D268H	ENST00000377670.4	37	c.802	CCDS12681.2	19	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	24.0|24.0|24.0	4.482035|4.482035|4.482035	0.84747|0.84747|0.84747	.|.|.	.|.|.	ENSG00000124440|ENSG00000124440|ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000457865;ENST00000414707;ENST00000244303;ENST00000339613;ENST00000291300;ENST00000300862;ENST00000420102|ENST00000457771|ENST00000472815	T;T;T;T;T|.|.	0.22945|.|.	1.93;1.93;1.93;1.93;1.93|.|.	4.3|4.3|4.3	4.3|4.3|4.3	0.51218|0.51218|0.51218	PAS fold-3 (1);PAS (3);|.|.	0.000000|.|.	0.42294|.|.	D|.|.	0.000734|.|.	T|T|.	0.78799|0.78799|.	0.4340|0.4340|.	M|M|M	0.86502|0.86502|0.86502	2.82|2.82|2.82	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0|.|.	D;D;D;D;D;D;D;D|.|.	0.91635|.|.	0.982;0.988;0.999;0.988;0.997;0.999;0.993;0.993|.|.	T|T|.	0.82086|0.82086|.	-0.0631|-0.0631|.	10|6|.	0.87932|0.56958|.	D|D|.	0|0.05|.	.|.|.	14.6642|14.6642|14.6642	0.68896|0.68896|0.68896	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	217;199;266;217;212;268;268;268|.|.	F5H884;B4DNA2;Q9Y2N7-2;B4DSD9;A8MPQ1;Q9Y2N7;B0M185;E7EWV6|.|.	.;.;.;.;.;HIF3A_HUMAN;.;.|.|.	H|I|S	268;268;268;176;268;199;212;212;266;217|198|240	ENSP00000366898:D268H;ENSP00000244303:D199H;ENSP00000341877:D212H;ENSP00000300862:D266H;ENSP00000407771:D217H|.|.	ENSP00000244302:D268H|ENSP00000408008:M198I|.	D|M|X	+|+|+	1|3|2	0|0|2	HIF3A|HIF3A|HIF3A	51507289|51507289|51507289	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.956000|0.956000|0.956000	0.61745|0.61745|0.61745	6.797000|6.797000|6.797000	0.75150|0.75150|0.75150	2.390000|2.390000|2.390000	0.81377|0.81377|0.81377	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	GAC|ATG|TGA	HIF3A	-	pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS,tigrfam_PAS		0.597	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIF3A	HGNC	protein_coding	OTTHUMT00000280556.3	G			46815449	+1	no_errors	ENST00000377670	ensembl	human	known	70_37	missense	SNP	1.000	C
HOXD10	3236	genome.wustl.edu	37	2	176982109	176982109	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr2:176982109G>A	ENST00000249501.4	+	1	803	c.548G>A	c.(547-549)cGt>cAt	p.R183H	HOXD10_ENST00000490088.2_Intron	NM_002148.3	NP_002139.2	P28358	HXD10_HUMAN	homeobox D10	183					adult locomotory behavior (GO:0008344)|anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|neuromuscular process (GO:0050905)|peripheral nervous system neuron development (GO:0048935)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CTCAACCCTCGTGGCGCGGCC	0.587																																																	0													34.0	42.0	39.0					2																	176982109		2201	4298	6499	SO:0001583	missense	3236				CCDS2266.1	2q31.1	2014-09-17	2005-12-22		ENSG00000128710	ENSG00000128710		"""Homeoboxes / ANTP class : HOXL subclass"""	5133	protein-coding gene	gene with protein product		142984	"""homeo box D10"""	HOX4, HOX4D		1973146, 1358459	Standard	NM_002148		Approved		uc002ukj.3	P28358	OTTHUMG00000132511	ENST00000249501.4:c.548G>A	2.37:g.176982109G>A	ENSP00000249501:p.Arg183His		Q6NT10	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.R183H	ENST00000249501.4	37	c.548	CCDS2266.1	2	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177602	0.78564	.	.	ENSG00000128710	ENST00000249501	D	0.94376	-3.41	5.99	5.99	0.97316	.	0.089867	0.64402	N	0.000001	D	0.91603	0.7347	L	0.50333	1.59	0.52099	D	0.999947	B	0.26002	0.139	B	0.16289	0.015	D	0.87507	0.2437	10	0.49607	T	0.09	.	20.4756	0.99175	0.0:0.0:1.0:0.0	.	183	P28358	HXD10_HUMAN	H	183	ENSP00000249501:R183H	ENSP00000249501:R183H	R	+	2	0	HOXD10	176690355	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.269000	0.78482	2.847000	0.97988	0.655000	0.94253	CGT	HOXD10	-	NULL		0.587	HOXD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD10	HGNC	protein_coding	OTTHUMT00000255692.2	G			176982109	+1	no_errors	ENST00000249501	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNQ2	3785	genome.wustl.edu	37	20	62045509	62045509	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr20:62045509C>G	ENST00000359125.2	-	14	1737	c.1563G>C	c.(1561-1563)aaG>aaC	p.K521N	KCNQ2_ENST00000357249.2_Missense_Mutation_p.K503N|KCNQ2_ENST00000359689.1_Missense_Mutation_p.K521N|KCNQ2_ENST00000360480.3_Missense_Mutation_p.K493N|KCNQ2_ENST00000344462.4_Missense_Mutation_p.K490N|KCNQ2_ENST00000354587.3_Missense_Mutation_p.K493N|KCNQ2_ENST00000370224.1_Missense_Mutation_p.K493N	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	521					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	AGGGGCAGCTCTTGTCATCCA	0.677																																																	0													54.0	59.0	57.0					20																	62045509		2203	4300	6503	SO:0001583	missense	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1563G>C	20.37:g.62045509C>G	ENSP00000352035:p.Lys521Asn		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.K493N	ENST00000359125.2	37	c.1479	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278619	0.59758	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222	D;D;D;D;D;D;D;D;D;D	0.99685	-6.4;-6.4;-6.4;-6.4;-6.4;-6.4;-6.4;-6.4;-6.4;-6.4	5.37	3.08	0.35506	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.170042	0.50627	N	0.000119	D	0.99456	0.9807	M	0.71206	2.165	0.46149	D	0.99889	D;D;P;D	0.60575	0.985;0.973;0.953;0.988	P;P;P;P	0.62491	0.798;0.798;0.725;0.903	D	0.98358	1.0547	10	0.87932	D	0	-24.1706	11.3933	0.49827	0.0:0.7744:0.0:0.2256	.	493;503;490;521	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	N	503;521;491;493;521;490;493;481;493;493	ENSP00000349789:K503N;ENSP00000352035:K521N;ENSP00000359246:K491N;ENSP00000346601:K493N;ENSP00000352718:K521N;ENSP00000399612:K490N;ENSP00000353668:K493N;ENSP00000339611:K481N;ENSP00000359244:K493N;ENSP00000359242:K493N	ENSP00000339611:K481N	K	-	3	2	KCNQ2	61515953	1.000000	0.71417	1.000000	0.80357	0.349000	0.29174	2.816000	0.48026	1.267000	0.44247	0.563000	0.77884	AAG	KCNQ2	-	pfam_K_chnl_volt-dep_KCNQ_C		0.677	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	C	NM_172109		62045509	-1	no_errors	ENST00000354587	ensembl	human	known	70_37	missense	SNP	1.000	G
KCNQ2	3785	genome.wustl.edu	37	20	62045529	62045529	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr20:62045529C>G	ENST00000359125.2	-	14	1717	c.1543G>C	c.(1543-1545)Gag>Cag	p.E515Q	KCNQ2_ENST00000357249.2_Missense_Mutation_p.E497Q|KCNQ2_ENST00000359689.1_Missense_Mutation_p.E515Q|KCNQ2_ENST00000360480.3_Missense_Mutation_p.E487Q|KCNQ2_ENST00000344462.4_Missense_Mutation_p.E484Q|KCNQ2_ENST00000354587.3_Missense_Mutation_p.E487Q|KCNQ2_ENST00000370224.1_Missense_Mutation_p.E487Q	NM_172107.2	NP_742105.1	O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	515					axon guidance (GO:0007411)|nervous system development (GO:0007399)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ankyrin binding (GO:0030506)|delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	ACAATGTCCTCTCCGGGGAGG	0.662																																																	0													44.0	49.0	47.0					20																	62045529		2202	4299	6501	SO:0001583	missense	3785			AF033348	CCDS13518.1, CCDS13519.1, CCDS13520.1, CCDS13521.1, CCDS46629.1	20q13.33	2012-07-05			ENSG00000075043	ENSG00000075043		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6296	protein-coding gene	gene with protein product		602235		EBN, EBN1		9425895, 16382104	Standard	NM_172107		Approved	Kv7.2, ENB1, BFNC, KCNA11, HNSPC	uc002yex.3	O43526	OTTHUMG00000033049	ENST00000359125.2:c.1543G>C	20.37:g.62045529C>G	ENSP00000352035:p.Glu515Gln		O43796|O75580|O95845|Q4VXP4|Q4VXR6|Q5VYT8|Q96J59|Q99454	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl	p.E487Q	ENST00000359125.2	37	c.1459	CCDS13520.1	20	.	.	.	.	.	.	.	.	.	.	C	19.12	3.765498	0.69878	.	.	ENSG00000075043	ENST00000357249;ENST00000359125;ENST00000370226;ENST00000354587;ENST00000359689;ENST00000430658;ENST00000360480;ENST00000344462;ENST00000370224;ENST00000370222	D;D;D;D;D;D;D;D;D;D	0.99722	-6.53;-6.53;-6.53;-6.53;-6.53;-6.53;-6.53;-6.53;-6.53;-6.53	5.37	5.37	0.77165	Potassium channel, voltage dependent, KCNQ, C-terminal (1);	0.245869	0.38837	N	0.001550	D	0.99648	0.9870	M	0.73962	2.25	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.994;0.999	D	0.98218	1.0476	10	0.52906	T	0.07	-1.463	19.1082	0.93305	0.0:1.0:0.0:0.0	.	487;497;484;515	O43526-3;O43526-2;O43526-4;O43526	.;.;.;KCNQ2_HUMAN	Q	497;515;485;487;515;484;487;475;487;487	ENSP00000349789:E497Q;ENSP00000352035:E515Q;ENSP00000359246:E485Q;ENSP00000346601:E487Q;ENSP00000352718:E515Q;ENSP00000399612:E484Q;ENSP00000353668:E487Q;ENSP00000339611:E475Q;ENSP00000359244:E487Q;ENSP00000359242:E487Q	ENSP00000339611:E475Q	E	-	1	0	KCNQ2	61515973	1.000000	0.71417	0.991000	0.47740	0.122000	0.20287	7.063000	0.76714	2.519000	0.84933	0.563000	0.77884	GAG	KCNQ2	-	pfam_K_chnl_volt-dep_KCNQ_C		0.662	KCNQ2-003	KNOWN	basic|CCDS	protein_coding	KCNQ2	HGNC	protein_coding	OTTHUMT00000080353.1	C	NM_172109		62045529	-1	no_errors	ENST00000354587	ensembl	human	known	70_37	missense	SNP	1.000	G
MAP10	54627	genome.wustl.edu	37	1	232943181	232943181	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:232943181G>T	ENST00000418460.1	+	1	2539	c.2412G>T	c.(2410-2412)aaG>aaT	p.K804N		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	662	Ser-rich.				cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										TTGTAGATAAGGAAATAGATA	0.358																																																	0													72.0	74.0	74.0					1																	232943181		1844	4091	5935	SO:0001583	missense	54627			AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.2412G>T	1.37:g.232943181G>T	ENSP00000403208:p.Lys804Asn		A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Missense_Mutation	SNP	NULL	p.K804N	ENST00000418460.1	37	c.2412	CCDS44334.1	1	.	.	.	.	.	.	.	.	.	.	G	3.629	-0.075880	0.07184	.	.	ENSG00000212916	ENST00000418460	.	.	.	6.01	-1.3	0.09259	.	0.582768	0.13990	U	0.348842	T	0.16854	0.0405	L	0.35414	1.06	0.09310	N	1	P	0.38335	0.627	B	0.29077	0.098	T	0.21211	-1.0252	9	0.16420	T	0.52	-7.7409	5.2499	0.15517	0.4469:0.0:0.3399:0.2132	.	662	Q9P2G4	K1383_HUMAN	N	804	.	ENSP00000403208:K804N	K	+	3	2	KIAA1383	231009804	0.004000	0.15560	0.026000	0.17262	0.014000	0.08584	-0.118000	0.10692	0.077000	0.16863	-0.382000	0.06688	AAG	KIAA1383	-	NULL		0.358	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1383	HGNC	protein_coding	OTTHUMT00000092317.3	G	NM_019090		232943181	+1	no_errors	ENST00000418460	ensembl	human	known	70_37	missense	SNP	0.000	T
KIF18B	146909	genome.wustl.edu	37	17	43006267	43006268	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr17:43006267_43006268insT	ENST00000593135.1	-	12	1739_1740	c.1642_1643insA	c.(1642-1644)attfs	p.I548fs	KIF18B_ENST00000590129.1_Frame_Shift_Ins_p.I569fs|KIF18B_ENST00000587309.1_Frame_Shift_Ins_p.I560fs|KIF18B_ENST00000438933.2_Frame_Shift_Ins_p.I560fs|KIF18B_ENST00000339151.4_Frame_Shift_Ins_p.I560fs	NM_001265577.1	NP_001252506.1	Q86Y91	KI18B_HUMAN	kinesin family member 18B	569					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|regulation of cell division (GO:0051302)	astral microtubule (GO:0000235)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule plus-end (GO:0035371)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CCCAGGCTCAATTTTTTCCTCT	0.589																																																	0																																										SO:0001589	frameshift_variant	146909				CCDS45709.1, CCDS58555.1, CCDS45709.2	17q21.31	2014-09-04			ENSG00000186185			"""Kinesins"""	27102	protein-coding gene	gene with protein product		614570				16084724	Standard	NM_001264573		Approved		uc010wjh.3	Q86Y91	OTTHUMG00000179867	ENST00000593135.1:c.1643dupA	17.37:g.43006273_43006273dupT	ENSP00000465992:p.Ile548fs		A6NJI2|B7ZM49|B9EGM8|D5L6I1	Frame_Shift_Ins	INS	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I560fs	ENST00000593135.1	37	c.1679_1678	CCDS45709.2	17																																																																																			KIF18B	-	NULL		0.589	KIF18B-001	PUTATIVE	basic|appris_candidate|exp_conf|CCDS	protein_coding	KIF18B	HGNC	protein_coding	OTTHUMT00000448724.1	-	NM_001080443		43006268	-1	no_errors	ENST00000339151	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	T
KNDC1	85442	genome.wustl.edu	37	10	135020478	135020478	+	Intron	SNP	G	G	A	rs376056528		TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr10:135020478G>A	ENST00000304613.3	+	19	3600				KNDC1_ENST00000368572.2_Intron|KNDC1_ENST00000368571.2_Silent_p.P1135P			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1						cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TCCGGGCCCCGCTCTGCCCCG	0.547																																																	0										0,4406		0,0,2203	42.0	46.0	45.0			-3.6	0.0	10		45	1,8599	1.2+/-3.3	0,1,4299	no	intron	KNDC1	NM_152643.6		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			135020478	1,13005	2203	4300	6503	SO:0001627	intron_variant	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3579+21G>A	10.37:g.135020478G>A			B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	superfamily_Kinase-like_dom,smart_KIND	p.P1135	ENST00000304613.3	37	c.3405	CCDS7674.1	10																																																																																			KNDC1	-	NULL		0.547	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	G	NM_152643		135020478	+1	no_errors	ENST00000368571	ensembl	human	putative	70_37	silent	SNP	0.000	A
KRT10	3858	genome.wustl.edu	37	17	38976838	38976838	+	Silent	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr17:38976838C>T	ENST00000269576.5	-	3	801	c.792G>A	c.(790-792)ctG>ctA	p.L264L	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	264	Coil 1B.|Gly-rich.|Rod.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				CAGCCTTGGTCAGGGTCAGCT	0.517																																																	0													122.0	119.0	120.0					17																	38976838		2203	4300	6503	SO:0001819	synonymous_variant	3858			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.792G>A	17.37:g.38976838C>T			Q14664|Q8N175	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.L264	ENST00000269576.5	37	c.792	CCDS11377.1	17																																																																																			KRT10	-	pfam_F,superfamily_Prefoldin,prints_Keratin_I		0.517	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	HGNC	protein_coding	OTTHUMT00000257875.1	C	NM_000421		38976838	-1	no_errors	ENST00000269576	ensembl	human	known	70_37	silent	SNP	0.212	T
LAMB1	3912	genome.wustl.edu	37	7	107591608	107591608	+	Intron	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr7:107591608C>G	ENST00000222399.6	-	24	3622				LAMB1_ENST00000393561.1_Intron	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						ACAGAAGGCTCTTGTAGAACC	0.413																																																	0																																										SO:0001627	intron_variant	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.3391+62G>C	7.37:g.107591608C>G			Q14D91	RNA	SNP	-	NULL	ENST00000222399.6	37	NULL	CCDS5750.1	7																																																																																			LAMB1	-	-		0.413	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	C	NM_002291		107591608	-1	no_errors	ENST00000479448	ensembl	human	putative	70_37	rna	SNP	0.001	G
LAS1L	81887	genome.wustl.edu	37	X	64738311	64738311	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chrX:64738311C>T	ENST00000374811.3	-	12	1523	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.E478K|LAS1L_ENST00000374804.5_Missense_Mutation_p.E436K	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	495					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TCCTGCTCCTCGTCTGGCAGG	0.552																																																	0													36.0	33.0	34.0					X																	64738311		2203	4300	6503	SO:0001583	missense	81887			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1483G>A	X.37:g.64738311C>T	ENSP00000363944:p.Glu495Lys		A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	Missense_Mutation	SNP	pfam_Las1	p.E495K	ENST00000374811.3	37	c.1483	CCDS14381.1	X	.	.	.	.	.	.	.	.	.	.	C	12.58	1.980920	0.34942	.	.	ENSG00000001497	ENST00000374807;ENST00000374811;ENST00000374804	.	.	.	4.62	3.74	0.42951	.	0.989889	0.08211	N	0.980664	T	0.34774	0.0909	L	0.54323	1.7	0.18873	N	0.999986	P;P;P;P	0.49635	0.792;0.926;0.913;0.681	B;B;B;B	0.42282	0.116;0.382;0.163;0.116	T	0.25082	-1.0142	9	0.52906	T	0.07	.	6.8874	0.24209	0.0:0.8715:0.0:0.1285	.	436;478;495;8	Q9Y4W2-3;Q9Y4W2-2;Q9Y4W2;B3KNR6	.;.;LAS1L_HUMAN;.	K	478;495;436	.	ENSP00000363937:E436K	E	-	1	0	LAS1L	64655036	0.532000	0.26346	0.047000	0.18901	0.337000	0.28794	3.143000	0.50608	1.875000	0.54330	0.468000	0.43344	GAG	LAS1L	-	NULL		0.552	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1	C	NM_031206		64738311	-1	no_errors	ENST00000374811	ensembl	human	known	70_37	missense	SNP	0.002	T
LDLRAD4	753	genome.wustl.edu	37	18	13387562	13387562	+	5'UTR	SNP	G	G	A	rs558352822	byFrequency	TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr18:13387562G>A	ENST00000359446.5	+	0	309				LDLRAD4_ENST00000399848.3_5'UTR|LDLRAD4_ENST00000361205.4_5'UTR	NM_001276251.1	NP_001263180.1	O15165	LRAD4_HUMAN	low density lipoprotein receptor class A domain containing 4						negative regulation of cell migration (GO:0030336)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	early endosome membrane (GO:0031901)|endosome (GO:0005768)|integral component of membrane (GO:0016021)	R-SMAD binding (GO:0070412)										CCGCCCGCCCGCGCGAGAGCC	0.741																																																	0																																										SO:0001623	5_prime_UTR_variant	753			AF009424, AF009428	CCDS32793.1, CCDS32794.1, CCDS32795.1, CCDS42415.1, CCDS62392.1, CCDS62393.1	18p11.21	2014-04-29	2012-10-24	2012-10-24	ENSG00000168675	ENSG00000168675			1224	protein-coding gene	gene with protein product	"""clone 22"""	606571	"""chromosome 18 open reading frame 1"""	C18orf1		9479497, 9129712, 24627487	Standard	NM_181482		Approved		uc002ksb.3	O15165	OTTHUMG00000181925	ENST00000359446.5:c.-160G>A	18.37:g.13387562G>A			B3KNT9|E9PAY9|K7EN38|O15166|O15167|O15168|Q5U646|Q6NXP3	RNA	SNP	-	NULL	ENST00000359446.5	37	NULL	CCDS32793.1	18																																																																																			LDLRAD4	-	-		0.741	LDLRAD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLRAD4	HGNC	protein_coding	OTTHUMT00000458326.1	G	NM_181481		13387562	+1	no_errors	ENST00000590371	ensembl	human	putative	70_37	rna	SNP	0.007	A
LETMD1	25875	genome.wustl.edu	37	12	51442167	51442167	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:51442167C>G	ENST00000262055.4	+	1	67	c.28C>G	c.(28-30)Cgg>Ggg	p.R10G	LETMD1_ENST00000552739.1_Missense_Mutation_p.R10G|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000547008.1_Missense_Mutation_p.R10G|LETMD1_ENST00000380123.2_Missense_Mutation_p.R10G|LETMD1_ENST00000550929.1_Intron|LETMD1_ENST00000418425.2_Missense_Mutation_p.R10G	NM_015416.4	NP_056231.3	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	10	Required and sufficient for mitochondrial import.					integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GTGCTGGGCTCGGTCGGCTGT	0.622											OREG0021818	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													90.0	98.0	95.0					12																	51442167		2203	4300	6503	SO:0001583	missense	25875			AF195651	CCDS8806.1, CCDS58231.1, CCDS73469.1	12q13.13	2006-04-12				ENSG00000050426			24241	protein-coding gene	gene with protein product	"""cervical cancer 1 protooncogene"""					12879013, 12061725	Standard	NM_015416		Approved	HCCR1	uc009zlw.3	Q6P1Q0	OTTHUMG00000169538	ENST00000262055.4:c.28C>G	12.37:g.51442167C>G	ENSP00000262055:p.Arg10Gly	977	A6NER7|B3KXK7|Q6X2E4|Q6X2E5|Q7L2G9|Q7L690|Q8WXW6|Q96PK7|Q9BY59|Q9Y3X3	Missense_Mutation	SNP	pfam_LETM1	p.R10G	ENST00000262055.4	37	c.28	CCDS8806.1	12	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902903	0.33628	.	.	ENSG00000050426	ENST00000262055;ENST00000550442;ENST00000549340;ENST00000548209;ENST00000548251;ENST00000380123;ENST00000548401;ENST00000418425;ENST00000448283;ENST00000547008;ENST00000552739	T;T;T;T;T;T;T;T;T	0.53857	0.74;0.71;0.6;0.65;0.65;0.67;0.71;0.74;0.66	4.69	4.69	0.59074	.	0.087637	0.45126	D	0.000391	T	0.57388	0.2050	N	0.24115	0.695	0.34714	D	0.728049	D;P;D;D;P;P;D	0.76494	0.999;0.924;0.958;0.986;0.872;0.924;0.983	D;P;P;P;P;P;P	0.70935	0.971;0.738;0.532;0.872;0.518;0.656;0.627	T	0.67118	-0.5751	10	0.66056	D	0.02	-9.2232	13.4282	0.61039	0.0:1.0:0.0:0.0	.	10;10;10;10;10;10;10	B7Z9A7;F8VVQ3;B3KXK7;F8W6J0;F8W1Z2;F8VP71;Q6P1Q0	.;.;.;.;.;.;LTMD1_HUMAN	G	10	ENSP00000262055:R10G;ENSP00000448110:R10G;ENSP00000449896:R10G;ENSP00000450275:R10G;ENSP00000447166:R10G;ENSP00000369466:R10G;ENSP00000450082:R10G;ENSP00000389903:R10G;ENSP00000447419:R10G	ENSP00000262055:R10G	R	+	1	2	LETMD1	49728434	0.997000	0.39634	0.930000	0.37139	0.035000	0.12851	1.802000	0.38853	2.885000	0.99019	0.655000	0.94253	CGG	LETMD1	-	NULL		0.622	LETMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETMD1	HGNC	protein_coding	OTTHUMT00000404710.1	C	NM_015416		51442167	+1	no_errors	ENST00000262055	ensembl	human	known	70_37	missense	SNP	0.939	G
LIMK1	3984	genome.wustl.edu	37	7	73530278	73530278	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr7:73530278G>C	ENST00000336180.2	+	13	1608	c.1557G>C	c.(1555-1557)gaG>gaC	p.E519D	LIMK1_ENST00000418310.1_Missense_Mutation_p.E549D|LIMK1_ENST00000538333.3_Missense_Mutation_p.E485D	NM_002314.3	NP_002305.1	P53667	LIMK1_HUMAN	LIM domain kinase 1	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|nervous system development (GO:0007399)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of axon extension (GO:0045773)|positive regulation of stress fiber assembly (GO:0051496)|protein phosphorylation (GO:0006468)|Rho protein signal transduction (GO:0007266)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)	ATP binding (GO:0005524)|heat shock protein binding (GO:0031072)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)			Dabrafenib(DB08912)	TGGCACCTGAGATGATCAACG	0.632																																																	0													96.0	81.0	86.0					7																	73530278		2203	4300	6503	SO:0001583	missense	3984			D26309	CCDS5563.1, CCDS56491.1	7q11.23	2005-01-21			ENSG00000106683	ENSG00000106683			6613	protein-coding gene	gene with protein product		601329				8673124, 8812460	Standard	NM_002314		Approved	LIMK	uc003uaa.2	P53667	OTTHUMG00000023448	ENST00000336180.2:c.1557G>C	7.37:g.73530278G>C	ENSP00000336740:p.Glu519Asp		B7Z6I8|D3DXF4|D3DXF5|O15283|Q15820|Q15821|Q75MU3|Q9Y5Q1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E519D	ENST00000336180.2	37	c.1557	CCDS5563.1	7	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821213	0.71028	.	.	ENSG00000106683	ENST00000418310;ENST00000419043;ENST00000336180;ENST00000538333	D;D;D	0.83591	-1.74;-1.74;-1.74	5.25	5.25	0.73442	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.94003	0.8079	H	0.95884	3.735	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.95715	0.8761	10	0.87932	D	0	-39.9348	16.385	0.83501	0.0:0.0:1.0:0.0	.	485;519	B7Z6I8;P53667	.;LIMK1_HUMAN	D	549;519;519;485	ENSP00000409717:E549D;ENSP00000336740:E519D;ENSP00000444452:E485D	ENSP00000336740:E519D	E	+	3	2	LIMK1	73168214	1.000000	0.71417	1.000000	0.80357	0.508000	0.34012	4.404000	0.59735	2.463000	0.83235	0.543000	0.68304	GAG	LIMK1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.632	LIMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK1	HGNC	protein_coding	OTTHUMT00000252335.2	G	NM_002314		73530278	+1	no_errors	ENST00000336180	ensembl	human	known	70_37	missense	SNP	1.000	C
LIPJ	142910	genome.wustl.edu	37	10	90353745	90353745	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr10:90353745C>G	ENST00000371939.3	+	5	487	c.173C>G	c.(172-174)tCt>tGt	p.S58C		NM_001010939.2	NP_001010939.2	Q5W064	LIPJ_HUMAN	lipase, family member J	58					lipid catabolic process (GO:0016042)		hydrolase activity, acting on ester bonds (GO:0016788)			large_intestine(4)|lung(4)|ovary(1)	9		all_cancers(4;2.79e-10)|Prostate(4;1.68e-15)|all_epithelial(4;1.43e-09)|Colorectal(252;0.0381)|Breast(4;0.141)|Melanoma(5;0.2)|all_hematologic(4;0.222)		Colorectal(12;1.02e-05)|COAD - Colon adenocarcinoma(12;1.54e-05)		TTGCTTACATCTGCCAGCAGC	0.383																																																	0													91.0	88.0	89.0					10																	90353745		2203	4299	6502	SO:0001583	missense	142910			BC031219	CCDS31240.1	10q23.31	2008-02-04	2008-02-04	2007-02-27	ENSG00000204022	ENSG00000204022			21773	protein-coding gene	gene with protein product		613921	"""lipase-like, ab-hydrolase domain containing 1"", ""lipase, family member J"""	LIPL1			Standard	NM_001010939		Approved	bA425M17.2	uc001kff.3	Q5W064	OTTHUMG00000018691	ENST00000371939.3:c.173C>G	10.37:g.90353745C>G	ENSP00000361007:p.Ser58Cys		A8MT98|Q0P671	Missense_Mutation	SNP	pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1	p.S58C	ENST00000371939.3	37	c.173	CCDS31240.1	10	.	.	.	.	.	.	.	.	.	.	C	15.36	2.811799	0.50527	.	.	ENSG00000204022	ENST00000371939	T	0.74737	-0.87	4.2	4.2	0.49525	Partial AB-hydrolase lipase domain (1);	0.346678	0.21173	N	0.078960	D	0.83617	0.5293	M	0.78916	2.43	0.29643	N	0.844531	D	0.89917	1.0	D	0.71870	0.975	T	0.79127	-0.1931	10	0.56958	D	0.05	-26.2553	9.7255	0.40328	0.3241:0.6758:0.0:0.0	.	58	Q5W064	LIPJ_HUMAN	C	58	ENSP00000361007:S58C	ENSP00000361007:S58C	S	+	2	0	LIPJ	90343725	0.981000	0.34729	0.996000	0.52242	0.908000	0.53690	2.958000	0.49145	2.327000	0.79052	0.543000	0.68304	TCT	LIPJ	-	pfam_AB_hydrolase_lipase		0.383	LIPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPJ	HGNC	protein_coding	OTTHUMT00000049248.2	C	XM_084377		90353745	+1	no_errors	ENST00000371939	ensembl	human	known	70_37	missense	SNP	1.000	G
LPAR4	2846	genome.wustl.edu	37	X	78010489	78010489	+	Silent	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chrX:78010489C>G	ENST00000435339.3	+	2	509	c.123C>G	c.(121-123)ctC>ctG	p.L41L		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	41					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						AGTATAATCTCAATGGTGCTG	0.408																																																	0													336.0	278.0	297.0					X																	78010489		2203	4300	6503	SO:0001819	synonymous_variant	2846			U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.123C>G	X.37:g.78010489C>G			B2RAC7|O15132|Q502U9|Q6NSP5	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_P2Y5_purnocptor,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_7TM	p.L41	ENST00000435339.3	37	c.123	CCDS14441.1	X																																																																																			LPAR4	-	prints_GPCR_Rhodpsn,prints_P2Y5_purnocptor		0.408	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR4	HGNC	protein_coding	OTTHUMT00000057322.2	C	NM_005296		78010489	+1	no_errors	ENST00000373301	ensembl	human	known	70_37	silent	SNP	1.000	G
LPXN	9404	genome.wustl.edu	37	11	58295017	58295017	+	Silent	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr11:58295017G>A	ENST00000395074.2	-	9	1159	c.1071C>T	c.(1069-1071)ttC>ttT	p.F357F	LPXN_ENST00000528954.1_Silent_p.F362F|LPXN_ENST00000528489.1_Silent_p.F337F	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	357	LIM zinc-binding 4. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GTGTCAGGCAGAAAGCACACA	0.522																																																	0													107.0	90.0	96.0					11																	58295017		2201	4295	6496	SO:0001819	synonymous_variant	9404			AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.1071C>T	11.37:g.58295017G>A			B2R8B4|B4DV71|Q53FW6|Q6FI07	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM	p.F362	ENST00000395074.2	37	c.1086	CCDS7969.1	11																																																																																			LPXN	-	pfam_Znf_LIM,smart_Znf_LIM,pirsf_Leupaxin,pfscan_Znf_LIM		0.522	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPXN	HGNC	protein_coding	OTTHUMT00000394709.1	G	NM_004811		58295017	-1	no_errors	ENST00000528954	ensembl	human	known	70_37	silent	SNP	1.000	A
LRRC43	254050	genome.wustl.edu	37	12	122685138	122685140	+	In_Frame_Del	DEL	AAA	AAA	-	rs151331994|rs79635862	byFrequency	TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	AAA	AAA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:122685138_122685140delAAA	ENST00000339777.4	+	9	1579_1581	c.1551_1553delAAA	c.(1549-1554)ggaaag>ggg	p.K518del	B3GNT4_ENST00000324189.4_5'Flank|LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_In_Frame_Del_p.K333del	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	518	Lys-rich.									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)		CCaagaaaggaaagggggagaaa	0.591																																																	0									,	22,3716		0,22,1847					,	3.2	0.0		dbSNP_134	110	185,7741		0,185,3778	no	coding,coding	LRRC43	NM_152759.4,NM_001098519.1	,	0,207,5625	A1A1,A1R,RR		2.3341,0.5886,1.7747	,	,		207,11457				SO:0001651	inframe_deletion	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.1551_1553delAAA	12.37:g.122685138_122685140delAAA	ENSP00000344233:p.Lys518del		Q6ZVT9	In_Frame_Del	DEL	NULL	p.K518in_frame_del	ENST00000339777.4	37	c.1551_1553	CCDS45001.1	12																																																																																			LRRC43	-	NULL		0.591	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1	AAA	NM_152759		122685140	+1	no_errors	ENST00000339777	ensembl	human	known	70_37	in_frame_del	DEL	0.115:0.128:0.123	-
LRRK2	120892	genome.wustl.edu	37	12	40699758	40699758	+	Missense_Mutation	SNP	G	G	C	rs573327331		TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:40699758G>C	ENST00000298910.7	+	28	4007	c.3949G>C	c.(3949-3951)Gac>Cac	p.D1317H		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1317					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.D1317Y(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TAAAGCCAAAGACATCATAAG	0.289																																																	2	Substitution - Missense(2)	large_intestine(2)											47.0	45.0	46.0					12																	40699758		2203	4299	6502	SO:0001583	missense	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3949G>C	12.37:g.40699758G>C	ENSP00000298910:p.Asp1317His		A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.D1317H	ENST00000298910.7	37	c.3949	CCDS31774.1	12	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596278	0.86953	.	.	ENSG00000188906	ENST00000298910	T	0.74209	-0.82	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.81226	0.4778	L	0.29908	0.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	T	0.82721	-0.0317	10	0.87932	D	0	.	19.9738	0.97296	0.0:0.0:1.0:0.0	.	1317;1317	Q17RV3;Q5S007	.;LRRK2_HUMAN	H	1317	ENSP00000298910:D1317H	ENSP00000298910:D1317H	D	+	1	0	LRRK2	38986025	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.352000	0.97076	2.732000	0.93576	0.655000	0.94253	GAC	LRRK2	-	NULL		0.289	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	G	XM_058513		40699758	+1	no_errors	ENST00000298910	ensembl	human	known	70_37	missense	SNP	1.000	C
LTBP4	8425	genome.wustl.edu	37	19	41120238	41120238	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:41120238G>C	ENST00000308370.7	+	22	2899	c.2899G>C	c.(2899-2901)Gag>Cag	p.E967Q	LTBP4_ENST00000396819.3_Missense_Mutation_p.E900Q|LTBP4_ENST00000204005.9_Missense_Mutation_p.E930Q|LTBP4_ENST00000243562.9_Missense_Mutation_p.E65Q|LTBP4_ENST00000545697.1_Missense_Mutation_p.E420Q|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	967	Cys-rich.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.E967Q(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGAATGTCGCGAGCGAGGCCC	0.652																																																	1	Substitution - Missense(1)	lung(1)											37.0	41.0	40.0					19																	41120238		1985	4159	6144	SO:0001583	missense	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.2899G>C	19.37:g.41120238G>C	ENSP00000311905:p.Glu967Gln		O00508|O75412|O75413	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E967Q	ENST00000308370.7	37	c.2899		19	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080015	0.76528	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000243562	D;D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97;-2.97	4.42	4.42	0.53409	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);	0.000000	0.40385	N	0.001101	D	0.90827	0.7119	N	0.12887	0.27	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;0.998;0.999;0.999	P;D;D;D;D	0.91635	0.87;0.998;0.998;0.999;0.999	D	0.88356	0.2984	10	0.16896	T	0.51	.	15.924	0.79597	0.0:0.0:1.0:0.0	.	65;187;900;967;930	Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;LTBP4_HUMAN;.	Q	930;420;967;900;65	ENSP00000204005:E930Q;ENSP00000441054:E420Q;ENSP00000311905:E967Q;ENSP00000380031:E900Q;ENSP00000243562:E65Q	ENSP00000204005:E930Q	E	+	1	0	LTBP4	45812078	0.997000	0.39634	0.986000	0.45419	0.970000	0.65996	4.524000	0.60552	2.280000	0.76307	0.455000	0.32223	GAG	LTBP4	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom		0.652	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		G	NM_003573		41120238	+1	no_errors	ENST00000308370	ensembl	human	known	70_37	missense	SNP	0.443	C
MAD1L1	8379	genome.wustl.edu	37	7	1855475	1855475	+	3'UTR	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr7:1855475G>C	ENST00000406869.1	-	0	2945				MAD1L1_ENST00000399654.2_3'UTR|MAD1L1_ENST00000265854.7_3'UTR|MAD1L1_ENST00000402746.1_3'UTR			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)						mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|regulation of metaphase plate congression (GO:0090235)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|spindle (GO:0005819)				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		AACCCAGGCTGGTGGCCGACG	0.647																																																	0																																										SO:0001624	3_prime_UTR_variant	8379			U33822	CCDS43539.1	7p22	2013-01-17	2001-11-28		ENSG00000002822	ENSG00000002822			6762	protein-coding gene	gene with protein product		602686	"""MAD1 (mitotic arrest deficient, yeast, homolog)-like 1"""			10049595, 9546394	Standard	XM_005249876		Approved	HsMAD1, TXBP181, MAD1, PIG9, TP53I9	uc003slg.1	Q9Y6D9	OTTHUMG00000151493	ENST00000406869.1:c.*231C>G	7.37:g.1855475G>C			B3KR41|Q13312|Q75MI0|Q86UM4|Q9UNH0	RNA	SNP	-	NULL	ENST00000406869.1	37	NULL	CCDS43539.1	7																																																																																			MAD1L1	-	-		0.647	MAD1L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAD1L1	HGNC	protein_coding	OTTHUMT00000322871.1	G	NM_003550		1855475	-1	no_errors	ENST00000468372	ensembl	human	known	70_37	rna	SNP	0.000	C
MAP9	79884	genome.wustl.edu	37	4	156276946	156276946	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr4:156276946T>G	ENST00000311277.4	-	9	1475	c.1212A>C	c.(1210-1212)aaA>aaC	p.K404N	MAP9_ENST00000515654.1_Missense_Mutation_p.K380N|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000609486.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000593387.2_RNA|AC097467.2_ENST00000601977.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000597939.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000610249.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000608092.1_RNA|AC097467.2_ENST00000608463.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000596165.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	404					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GGTCCAAGACTTTTAAAGTCC	0.348																																																	0													84.0	86.0	85.0					4																	156276946		2203	4300	6503	SO:0001583	missense	79884			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.1212A>C	4.37:g.156276946T>G	ENSP00000310593:p.Lys404Asn		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	NULL	p.K404N	ENST00000311277.4	37	c.1212	CCDS35493.1	4	.	.	.	.	.	.	.	.	.	.	T	20.4	3.987866	0.74589	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024	T;T;T	0.49432	1.34;3.08;0.78	5.28	2.61	0.31194	.	0.143592	0.43579	D	0.000550	T	0.54549	0.1865	L	0.60455	1.87	0.80722	D	1	D;D;D	0.57257	0.961;0.979;0.961	P;P;P	0.61658	0.849;0.892;0.849	T	0.55016	-0.8206	10	0.72032	D	0.01	-16.0856	4.8383	0.13476	0.0:0.3183:0.0:0.6817	.	379;404;404	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	N	404;380;403	ENSP00000310593:K404N;ENSP00000427402:K380N;ENSP00000394048:K403N	ENSP00000310593:K404N	K	-	3	2	MAP9	156496396	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.527000	0.45615	0.962000	0.38057	0.472000	0.43445	AAA	MAP9	-	NULL		0.348	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	HGNC	protein_coding	OTTHUMT00000257771.3	T	NM_001039580		156276946	-1	no_errors	ENST00000311277	ensembl	human	known	70_37	missense	SNP	1.000	G
MDGA2	161357	genome.wustl.edu	37	14	47343356	47343356	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr14:47343356G>C	ENST00000399232.2	-	13	2642	c.2278C>G	c.(2278-2280)Caa>Gaa	p.Q760E	MDGA2_ENST00000439988.3_Missense_Mutation_p.Q829E|MDGA2_ENST00000357362.3_Missense_Mutation_p.Q531E|MDGA2_ENST00000426342.1_Missense_Mutation_p.Q531E|MDGA2_ENST00000399222.3_5'UTR	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	760	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GTATCATCTTGAGTGAACAAA	0.303																																																	0													127.0	117.0	120.0					14																	47343356		1819	4081	5900	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2278C>G	14.37:g.47343356G>C	ENSP00000382178:p.Gln760Glu		F6W3S7|J3KPX6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like	p.Q829E	ENST00000399232.2	37	c.2485		14	.	.	.	.	.	.	.	.	.	.	G	24.8	4.576384	0.86645	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.02421	4.3;4.3;4.3;4.3	5.68	5.68	0.88126	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.000000	0.47455	U	0.000238	T	0.24314	0.0589	M	0.93241	3.395	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.91635	0.989;0.999	T	0.08289	-1.0729	10	0.72032	D	0.01	.	18.3577	0.90364	0.0:0.0:1.0:0.0	.	531;760	F6W3S7;Q7Z553	.;MDGA2_HUMAN	E	760;531;829;531	ENSP00000400011:Q760E;ENSP00000405456:Q531E;ENSP00000382178:Q829E;ENSP00000349925:Q531E	ENSP00000349925:Q531E	Q	-	1	0	MDGA2	46413106	1.000000	0.71417	0.977000	0.42913	0.983000	0.72400	9.476000	0.97823	2.668000	0.90789	0.563000	0.77884	CAA	MDGA2	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom		0.303	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	HGNC	protein_coding	OTTHUMT00000073352.5	G	NM_182830		47343356	-1	no_errors	ENST00000399232	ensembl	human	known	70_37	missense	SNP	1.000	C
MGMT	4255	genome.wustl.edu	37	10	131565154	131565154	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr10:131565154G>C	ENST00000306010.7	+	5	642	c.610G>C	c.(610-612)Ggc>Cgc	p.G204R	RP11-109A6.3_ENST00000428273.1_lincRNA	NM_002412.3	NP_002403.2	P16455	MGMT_HUMAN	O-6-methylguanine-DNA methyltransferase	173					cellular response to ionizing radiation (GO:0071479)|cellular response to organic cyclic compound (GO:0071407)|cellular response to oxidative stress (GO:0034599)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA ligation (GO:0006266)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell death (GO:0060548)|positive regulation of DNA repair (GO:0045739)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to toxic substance (GO:0009636)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methylated-DNA-[protein]-cysteine S-methyltransferase activity (GO:0003908)|methyltransferase activity (GO:0008168)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)	L-Cysteine(DB00151)	GGCCCATGAAGGCCACCGGTT	0.682								Direct reversal of damage																																									0													30.0	32.0	32.0					10																	131565154		2203	4300	6503	SO:0001583	missense	4255			M29971	CCDS7660.2	10q26	2005-10-06			ENSG00000170430	ENSG00000170430			7059	protein-coding gene	gene with protein product		156569					Standard	NM_002412		Approved		uc001lkh.2	P16455	OTTHUMG00000019261	ENST00000306010.7:c.610G>C	10.37:g.131565154G>C	ENSP00000302111:p.Gly204Arg		Q5VY78	Missense_Mutation	SNP	pfam_MethylDNA_cys_MeTrfase_DNA-bd,pfam_MethylG_MeTrfase,superfamily_MethylDNA_cys_MeTrfase_DNA-bd,tigrfam_MethylDNA_cys_MeTrfase_DNA-bd	p.G204R	ENST00000306010.7	37	c.610	CCDS7660.2	10	.	.	.	.	.	.	.	.	.	.	G	18.21	3.574183	0.65878	.	.	ENSG00000170430	ENST00000306010	T	0.22336	1.96	4.97	2.58	0.30949	.	0.380286	0.26612	N	0.023415	T	0.16385	0.0394	N	0.17345	0.48	0.35205	D	0.774615	D	0.65815	0.995	P	0.55112	0.769	T	0.13629	-1.0502	10	0.44086	T	0.13	.	2.4005	0.04400	0.2984:0.303:0.3986:0.0	.	204	B4DEE8	.	R	204	ENSP00000302111:G204R	ENSP00000302111:G204R	G	+	1	0	MGMT	131455144	1.000000	0.71417	0.120000	0.21714	0.014000	0.08584	4.048000	0.57390	2.318000	0.78349	0.563000	0.77884	GGC	MGMT	-	pfam_MethylDNA_cys_MeTrfase_DNA-bd,superfamily_MethylDNA_cys_MeTrfase_DNA-bd		0.682	MGMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGMT	HGNC	protein_coding	OTTHUMT00000051009.3	G	NM_002412		131565154	+1	no_errors	ENST00000306010	ensembl	human	known	70_37	missense	SNP	0.933	C
MIB1	57534	genome.wustl.edu	37	18	19418375	19418375	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr18:19418375G>A	ENST00000261537.6	+	13	2143	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	627					blood vessel development (GO:0001568)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|negative regulation of neuron differentiation (GO:0045665)|neural tube formation (GO:0001841)|Notch signaling pathway (GO:0007219)|positive regulation of endocytosis (GO:0045807)|somitogenesis (GO:0001756)	centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GATTGTGGATGAGAAGAAAGA	0.343																																																	0													115.0	108.0	110.0					18																	19418375		2203	4300	6503	SO:0001583	missense	57534			AB037744	CCDS11871.1	18q11.2	2014-09-17	2012-02-23		ENSG00000101752	ENSG00000101752		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	21086	protein-coding gene	gene with protein product		608677	"""mindbomb homolog 1 (Drosophila)"""				Standard	NM_020774		Approved	DIP-1, MIB, KIAA1323, ZZANK2, ZZZ6	uc002ktq.3	Q86YT6	OTTHUMG00000131753	ENST00000261537.6:c.1879G>A	18.37:g.19418375G>A	ENSP00000261537:p.Glu627Lys		B0YJ38|Q2TB37|Q68D01|Q6YI51|Q8NBY0|Q8TCB5|Q8TCL7|Q9P2M3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt	p.E627K	ENST00000261537.6	37	c.1879	CCDS11871.1	18	.	.	.	.	.	.	.	.	.	.	G	33	5.261416	0.95368	.	.	ENSG00000101752	ENST00000261537	T	0.64991	-0.13	5.78	5.78	0.91487	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.58380	0.2118	N	0.04335	-0.225	0.80722	D	1	P	0.44776	0.843	P	0.61722	0.893	T	0.54569	-0.8274	10	0.08837	T	0.75	-23.1684	19.9918	0.97368	0.0:0.0:1.0:0.0	.	627	Q86YT6	MIB1_HUMAN	K	627	ENSP00000261537:E627K	ENSP00000261537:E627K	E	+	1	0	MIB1	17672373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.728000	0.93425	0.585000	0.79938	GAG	MIB1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.343	MIB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIB1	HGNC	protein_coding	OTTHUMT00000254675.1	G	NM_020774		19418375	+1	no_errors	ENST00000261537	ensembl	human	known	70_37	missense	SNP	1.000	A
MLLT4	4301	genome.wustl.edu	37	6	168370499	168370499	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr6:168370499G>A	ENST00000447894.2	+	33	5359	c.5359G>A	c.(5359-5361)Gaa>Aaa	p.E1787K	MLLT4_ENST00000366806.2_Missense_Mutation_p.E1787K|MLLT4_ENST00000351017.4_Missense_Mutation_p.E1794K|MLLT4_ENST00000400822.3_Missense_Mutation_p.E1797K|MLLT4_ENST00000392112.1_Missense_Mutation_p.E1706K			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1787					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TGGGGCCCCTGAAAACTTGAC	0.413			T	MLL	AL																																			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	0													62.0	62.0	62.0					6																	168370499		1828	4076	5904	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.5359G>A	6.37:g.168370499G>A	ENSP00000404595:p.Glu1787Lys		O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc	p.E1787K	ENST00000447894.2	37	c.5359		6	.	.	.	.	.	.	.	.	.	.	G	27.3	4.821023	0.90873	.	.	ENSG00000130396	ENST00000351017;ENST00000366806;ENST00000392112;ENST00000400822;ENST00000447894	T;T;T;T;T	0.20332	2.53;2.62;2.08;2.54;2.53	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.41488	0.1161	M	0.72118	2.19	0.46927	D	0.999258	D	0.76494	0.999	D	0.83275	0.996	T	0.34179	-0.9839	10	0.72032	D	0.01	-18.1275	19.2237	0.93808	0.0:0.0:1.0:0.0	.	1797	P55196-5	.	K	1794;1787;1706;1797;1787	ENSP00000252692:E1794K;ENSP00000355771:E1787K;ENSP00000375960:E1706K;ENSP00000383623:E1797K;ENSP00000404595:E1787K	ENSP00000252692:E1794K	E	+	1	0	MLLT4	168113348	1.000000	0.71417	0.836000	0.33094	0.468000	0.32798	9.217000	0.95160	2.598000	0.87819	0.655000	0.94253	GAA	MLLT4	-	NULL		0.413	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	MLLT4	HGNC	protein_coding	OTTHUMT00000372077.1	G	NM_005936		168370499	+1	no_errors	ENST00000366806	ensembl	human	known	70_37	missense	SNP	1.000	A
MRPL9	65005	genome.wustl.edu	37	1	151735518	151735518	+	Silent	SNP	C	C	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:151735518C>A	ENST00000368830.3	-	2	342	c.258G>T	c.(256-258)acG>acT	p.T86T	RP11-98D18.2_ENST00000420382.1_RNA|OAZ3_ENST00000479764.1_5'Flank|OAZ3_ENST00000321531.5_De_novo_Start_InFrame|OAZ3_ENST00000315067.8_De_novo_Start_InFrame|MRPL9_ENST00000368829.3_Silent_p.T86T|OAZ3_ENST00000453029.2_5'Flank|RP11-98D18.3_ENST00000512280.1_RNA|MRPL9_ENST00000467306.1_5'UTR	NM_031420.2	NP_113608.1	Q9BYD2	RM09_HUMAN	mitochondrial ribosomal protein L9	86					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCGATGCTTCGTGTCCTCCA	0.657																																																	0													73.0	75.0	74.0					1																	151735518		2203	4300	6503	SO:0001819	synonymous_variant	65005			AK026363	CCDS1003.1, CCDS72916.1	1q21	2012-09-13			ENSG00000143436	ENSG00000143436		"""Mitochondrial ribosomal proteins / large subunits"""	14277	protein-coding gene	gene with protein product		611824					Standard	XM_005245455		Approved		uc001eyv.3	Q9BYD2	OTTHUMG00000013063	ENST00000368830.3:c.258G>T	1.37:g.151735518C>A			B2RD99|Q5SZR2|Q9BSW8	Silent	SNP	pfam_Ribosomal_L9_N,superfamily_Ribosomal_L9/RNase_H1_N	p.T86	ENST00000368830.3	37	c.258	CCDS1003.1	1																																																																																			MRPL9	-	NULL		0.657	MRPL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL9	HGNC	protein_coding	OTTHUMT00000036653.2	C	NM_031420		151735518	-1	no_errors	ENST00000368830	ensembl	human	known	70_37	silent	SNP	0.673	A
MYO1H	283446	genome.wustl.edu	37	12	109877536	109877536	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:109877536C>T	ENST00000431443.2	+	23	2377	c.2377C>T	c.(2377-2379)Cac>Tac	p.H793Y	MYO1H_ENST00000310903.5_Missense_Mutation_p.H783Y	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	793						myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TCTCCGGTATCACCTTCCAAA	0.458																																																	0													83.0	79.0	81.0					12																	109877536		1950	4154	6104	SO:0001583	missense	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.2377C>T	12.37:g.109877536C>T	ENSP00000444076:p.His793Tyr		F5H3C6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.H793Y	ENST00000431443.2	37	c.2377		12	.	.	.	.	.	.	.	.	.	.	C	16.41	3.114399	0.56505	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	D;D	0.87571	-2.25;-2.27	5.43	5.43	0.79202	.	.	.	.	.	D	0.90130	0.6916	M	0.67953	2.075	0.36804	D	0.885521	D	0.58268	0.982	P	0.52909	0.713	D	0.92035	0.5636	9	0.48119	T	0.1	.	16.7533	0.85492	0.0:1.0:0.0:0.0	.	783	F5H3C6	.	Y	783;793	ENSP00000439182:H783Y;ENSP00000444076:H793Y	ENSP00000439182:H783Y	H	+	1	0	MYO1H	108361919	1.000000	0.71417	0.162000	0.22713	0.475000	0.33008	5.339000	0.65953	2.543000	0.85770	0.655000	0.94253	CAC	MYO1H	-	NULL		0.458	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		C	NM_173597		109877536	+1	no_errors	ENST00000431443	ensembl	human	known	70_37	missense	SNP	0.892	T
MYO3A	53904	genome.wustl.edu	37	10	26417425	26417425	+	Silent	SNP	A	A	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr10:26417425A>G	ENST00000265944.5	+	20	2386	c.2220A>G	c.(2218-2220)caA>caG	p.Q740Q	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	740	Myosin motor.				ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAATGAACAAATTCAGTATT	0.333																																																	0													75.0	71.0	73.0					10																	26417425		2203	4300	6503	SO:0001819	synonymous_variant	53904			AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.2220A>G	10.37:g.26417425A>G			Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom	p.Q740	ENST00000265944.5	37	c.2220	CCDS7148.1	10																																																																																			MYO3A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.333	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO3A	HGNC	protein_coding	OTTHUMT00000047259.1	A	NM_017433		26417425	+1	no_errors	ENST00000265944	ensembl	human	known	70_37	silent	SNP	1.000	G
MYO6	4646	genome.wustl.edu	37	6	76550344	76550344	+	Missense_Mutation	SNP	G	G	A	rs140235734		TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr6:76550344G>A	ENST00000369977.3	+	8	735	c.596G>A	c.(595-597)cGc>cAc	p.R199H	MYO6_ENST00000369975.1_Missense_Mutation_p.R199H|MYO6_ENST00000369985.4_Missense_Mutation_p.R199H|MYO6_ENST00000369981.3_Missense_Mutation_p.R199H	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	199	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AAGACTGTTCGCAACAATAAT	0.338																																																	0								G	HIS/ARG	0,4406		0,0,2203	83.0	85.0	85.0		596	5.0	1.0	6	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYO6	NM_004999.3	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	199/1286	76550344	1,13005	2203	4300	6503	SO:0001583	missense	4646			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.596G>A	6.37:g.76550344G>A	ENSP00000358994:p.Arg199His		A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.R199H	ENST00000369977.3	37	c.596	CCDS34487.1	6	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034908	0.93575	0.0	1.16E-4	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	D;D;D;D	0.89050	-2.46;-2.46;-2.46;-2.46	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.95576	0.8562	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.97	D	0.96602	0.9445	10	0.87932	D	0	.	18.2315	0.89936	0.0:0.0:1.0:0.0	.	199;199	Q9UM54-2;Q9UM54-1	.;.	H	199	ENSP00000358998:R199H;ENSP00000359002:R199H;ENSP00000358994:R199H;ENSP00000358992:R199H	ENSP00000358992:R199H	R	+	2	0	MYO6	76607064	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.476000	0.97823	2.318000	0.78349	0.650000	0.86243	CGC	MYO6	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.338	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO6	HGNC	protein_coding	OTTHUMT00000041279.2	G	NM_004999		76550344	+1	no_errors	ENST00000369981	ensembl	human	known	70_37	missense	SNP	1.000	A
NCAN	1463	genome.wustl.edu	37	19	19337411	19337411	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:19337411G>A	ENST00000252575.6	+	7	1288	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	NCAN_ENST00000538881.1_5'Flank	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	397					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|regulation of synapse structural plasticity (GO:0051823)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)		Hyaluronan(DB08818)	CCTGGAGGAGGAAGAGGTGGT	0.577																																																	0													46.0	46.0	46.0					19																	19337411		2202	4300	6502	SO:0001583	missense	1463			AF026547	CCDS12397.1	19p12	2014-01-30	2007-02-15	2007-02-15	ENSG00000130287	ENSG00000130287		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"", ""Endogenous ligands"""	2465	protein-coding gene	gene with protein product	"""neurocan proteoglycan"""	600826	"""chondroitin sulfate proteoglycan 3"""	CSPG3		1326557, 21353194	Standard	NM_004386		Approved		uc002nlz.3	O14594		ENST00000252575.6:c.1189G>A	19.37:g.19337411G>A	ENSP00000252575:p.Glu397Lys		Q9UPK6	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link,prints_AntifreezeII	p.E397K	ENST00000252575.6	37	c.1189	CCDS12397.1	19	.	.	.	.	.	.	.	.	.	.	G	10.61	1.399290	0.25291	.	.	ENSG00000130287	ENST00000539499;ENST00000252575	D	0.84589	-1.87	5.42	1.98	0.26296	.	0.626334	0.13248	N	0.402285	T	0.68072	0.2961	N	0.14661	0.345	0.09310	N	0.999999	B	0.20052	0.041	B	0.21917	0.037	T	0.51244	-0.8730	10	0.06625	T	0.88	-11.5139	7.5287	0.27671	0.0898:0.3186:0.5916:0.0	.	397	O14594	NCAN_HUMAN	K	411;397	ENSP00000252575:E397K	ENSP00000252575:E397K	E	+	1	0	NCAN	19198411	0.007000	0.16637	0.002000	0.10522	0.030000	0.12068	0.600000	0.24104	0.228000	0.21019	0.555000	0.69702	GAA	NCAN	-	NULL		0.577	NCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAN	HGNC	protein_coding	OTTHUMT00000460111.2	G	NM_004386		19337411	+1	no_errors	ENST00000252575	ensembl	human	known	70_37	missense	SNP	0.030	A
NCAPH2	29781	genome.wustl.edu	37	22	50956041	50956041	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr22:50956041G>A	ENST00000420993.2	+	4	424	c.302G>A	c.(301-303)aGg>aAg	p.R101K	NCAPH2_ENST00000395701.3_Missense_Mutation_p.R101K|NCAPH2_ENST00000299821.11_Missense_Mutation_p.R101K|NCAPH2_ENST00000395698.3_Missense_Mutation_p.R101K	NM_001185011.1|NM_152299.3	NP_001171940.1|NP_689512.2	Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	101					chromosome condensation (GO:0030261)|mitotic cell cycle (GO:0000278)	chromosome (GO:0005694)|membrane (GO:0016020)|nucleoplasm (GO:0005654)				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CAGGAGGACAGGGCCAATGGG	0.647																																																	0													62.0	72.0	69.0					22																	50956041		2203	4300	6503	SO:0001583	missense	29781			BC001937	CCDS14094.2, CCDS43038.1, CCDS54546.1	22q13.33	2008-02-04			ENSG00000025770	ENSG00000025770			25071	protein-coding gene	gene with protein product	"""kleisin beta"", ""CAP-H2 subunit of the condensin II complex"""	611230				10493829	Standard	NM_014551		Approved	384D8-2, hCAP-H2, CAP-H2	uc003blx.4	Q6IBW4	OTTHUMG00000150205	ENST00000420993.2:c.302G>A	22.37:g.50956041G>A	ENSP00000410088:p.Arg101Lys		B7WPH1|O43788|Q13391|Q96C14|Q96GJ0|Q9BQ71|Q9BUT3|Q9BVD1	Missense_Mutation	SNP	pfam_Condensin_II_H2-like	p.R101K	ENST00000420993.2	37	c.302	CCDS14094.2	22	.	.	.	.	.	.	.	.	.	.	G	13.23	2.175357	0.38413	.	.	ENSG00000025770	ENST00000420993;ENST00000395698;ENST00000395701;ENST00000523045;ENST00000299821	.	.	.	4.64	0.0504	0.14293	.	0.675264	0.14903	N	0.291700	T	0.19927	0.0479	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.27625	0.152;0.152;0.183;0.131	B;B;B;B	0.36959	0.153;0.153;0.237;0.062	T	0.34254	-0.9836	9	0.17832	T	0.49	-23.5301	4.5914	0.12307	0.2755:0.1615:0.563:0.0	.	101;101;101;101	Q6IBW4-4;Q6IBW4-2;Q6IBW4;Q6IBW4-5	.;.;CNDH2_HUMAN;.	K	101;101;101;67;101	.	ENSP00000299821:R101K	R	+	2	0	NCAPH2	49302907	0.006000	0.16342	0.000000	0.03702	0.575000	0.36095	0.489000	0.22387	-0.054000	0.13266	0.561000	0.74099	AGG	NCAPH2	-	pfam_Condensin_II_H2-like		0.647	NCAPH2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCAPH2	HGNC	protein_coding	OTTHUMT00000317012.1	G	NM_152299		50956041	+1	no_errors	ENST00000299821	ensembl	human	known	70_37	missense	SNP	0.000	A
NHS	4810	genome.wustl.edu	37	X	17744187	17744187	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chrX:17744187C>T	ENST00000380060.3	+	6	2236	c.1898C>T	c.(1897-1899)tCt>tTt	p.S633F	NHS_ENST00000398097.3_Missense_Mutation_p.S477F	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	654					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCTGCAGCTTCTCCTCCACTC	0.547																																																	0													123.0	107.0	112.0					X																	17744187		2203	4300	6503	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.1898C>T	X.37:g.17744187C>T	ENSP00000369400:p.Ser633Phe		B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	NULL	p.S633F	ENST00000380060.3	37	c.1898	CCDS14181.1	X	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501551	0.64298	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.55930	0.49;0.52	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.74512	0.3726	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.998	T	0.76683	-0.2869	10	0.87932	D	0	-14.0116	19.2516	0.93926	0.0:1.0:0.0:0.0	.	654;475;477;633	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	F	633;477;475	ENSP00000369400:S633F;ENSP00000381170:S477F	ENSP00000369397:S475F	S	+	2	0	NHS	17654108	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	7.487000	0.81328	2.498000	0.84270	0.600000	0.82982	TCT	NHS	-	NULL		0.547	NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHS	HGNC	protein_coding	OTTHUMT00000059120.1	C	NM_198270		17744187	+1	no_errors	ENST00000380060	ensembl	human	known	70_37	missense	SNP	1.000	T
OBSL1	23363	genome.wustl.edu	37	2	220428191	220428191	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr2:220428191C>G	ENST00000404537.1	-	7	2622	c.2566G>C	c.(2566-2568)Gag>Cag	p.E856Q	OBSL1_ENST00000373873.4_Missense_Mutation_p.E856Q|OBSL1_ENST00000373876.1_Missense_Mutation_p.E856Q|OBSL1_ENST00000603926.1_Missense_Mutation_p.E856Q|OBSL1_ENST00000265318.4_Missense_Mutation_p.E856Q|OBSL1_ENST00000289656.3_Missense_Mutation_p.E443Q	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	856	Ig-like 6.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CCCTCATTCTCCAGCACCACG	0.647																																																	0													61.0	70.0	67.0					2																	220428191		2148	4233	6381	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.2566G>C	2.37:g.220428191C>G	ENSP00000385636:p.Glu856Gln		A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E856Q	ENST00000404537.1	37	c.2566	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	18.56	3.649811	0.67358	.	.	ENSG00000124006	ENST00000265318;ENST00000404537;ENST00000373876;ENST00000373873;ENST00000289656	T;T;T;T;T	0.67345	-0.26;-0.26;-0.26;-0.26;-0.26	4.69	4.69	0.59074	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76292	0.3967	L	0.53729	1.69	0.42403	D	0.992572	D;D;D;P	0.69078	0.997;0.997;0.981;0.925	D;D;P;P	0.71414	0.973;0.973;0.832;0.561	T	0.71262	-0.4645	9	0.15499	T	0.54	.	17.8265	0.88667	0.0:1.0:0.0:0.0	.	857;856;443;856	A4KVA4;O75147;A8MSZ8;O75147-2	.;OBSL1_HUMAN;.;.	Q	856;856;856;856;443	ENSP00000265318:E856Q;ENSP00000385636:E856Q;ENSP00000362983:E856Q;ENSP00000362980:E856Q;ENSP00000289656:E443Q	ENSP00000265318:E856Q	E	-	1	0	OBSL1	220136435	0.970000	0.33590	0.979000	0.43373	0.816000	0.46133	1.281000	0.33214	2.433000	0.82419	0.561000	0.74099	GAG	OBSL1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.647	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	C			220428191	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	missense	SNP	1.000	G
OGFOD2	79676	genome.wustl.edu	37	12	123459828	123459828	+	Silent	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:123459828C>T	ENST00000228922.7	+	1	62	c.30C>T	c.(28-30)ttC>ttT	p.F10F	ABCB9_ENST00000542678.1_Intron|OGFOD2_ENST00000538628.1_Intron|OGFOD2_ENST00000542117.1_Intron|OGFOD2_ENST00000545612.1_Intron|OGFOD2_ENST00000545317.1_Intron|ABCB9_ENST00000442028.2_5'Flank|OGFOD2_ENST00000536150.1_Intron|RP11-197N18.2_ENST00000540866.2_RNA|OGFOD2_ENST00000454694.2_Intron|OGFOD2_ENST00000397389.2_Intron|OGFOD2_ENST00000538755.1_Intron|ABCB9_ENST00000392439.3_5'Flank			Q6N063	OGFD2_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 2	10							iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)			breast(1)|endometrium(2)|lung(4)|pancreas(1)	8	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)	Vitamin C(DB00126)	CGCGGCACTTCTGCCGCTGCG	0.687																																																	0																																										SO:0001819	synonymous_variant	79676			AK094820	CCDS41855.1	12q24.31	2010-11-23			ENSG00000111325	ENSG00000111325			25823	protein-coding gene	gene with protein product						12477932	Standard	NM_024623		Approved	FLJ13491, FLJ37501	uc001udz.1	Q6N063		ENST00000228922.7:c.30C>T	12.37:g.123459828C>T			B3KT24|Q4KN13|Q6N023|Q9H8K6	Silent	SNP	smart_Pro_4_hyd_alph	p.F10	ENST00000228922.7	37	c.30		12																																																																																			OGFOD2	-	NULL		0.687	OGFOD2-006	KNOWN	basic|appris_principal	protein_coding	OGFOD2	HGNC	protein_coding	OTTHUMT00000400984.1	C	NM_024623		123459828	+1	no_errors	ENST00000228922	ensembl	human	known	70_37	silent	SNP	1.000	T
OR1J2	26740	genome.wustl.edu	37	9	125273111	125273111	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr9:125273111G>C	ENST00000335302.5	+	1	31	c.31G>C	c.(31-33)Gag>Cag	p.E11Q		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						CAGCGTGTCCGAGTTCCTCCT	0.532																																																	0													156.0	145.0	149.0					9																	125273111		2203	4300	6503	SO:0001583	missense	26740				CCDS35121.1	9q33.2	2013-09-20			ENSG00000197233	ENSG00000197233		"""GPCR / Class A : Olfactory receptors"""	8209	protein-coding gene	gene with protein product				OR1J3, OR1J5			Standard	XM_005251920		Approved	OST044	uc011lyv.2	Q8NGS2	OTTHUMG00000020604	ENST00000335302.5:c.31G>C	9.37:g.125273111G>C	ENSP00000335575:p.Glu11Gln		A3KFL9|Q6IF14|Q96R90|Q9NZP1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E11Q	ENST00000335302.5	37	c.31	CCDS35121.1	9	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695812	0.30052	.	.	ENSG00000197233	ENST00000335302;ENST00000444856	T	0.01126	5.3	4.69	0.701	0.18104	.	0.822266	0.09750	U	0.760709	T	0.02193	0.0068	M	0.65975	2.015	0.09310	N	1	B	0.32731	0.382	B	0.35931	0.214	T	0.38542	-0.9656	10	0.62326	D	0.03	.	9.0489	0.36363	0.0805:0.4278:0.4918:0.0	.	11	Q8NGS2	OR1J2_HUMAN	Q	11	ENSP00000335575:E11Q	ENSP00000335575:E11Q	E	+	1	0	OR1J2	124312932	0.000000	0.05858	0.026000	0.17262	0.918000	0.54935	0.059000	0.14322	0.046000	0.15833	-0.132000	0.14878	GAG	OR1J2	-	NULL		0.532	OR1J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J2	HGNC	protein_coding	OTTHUMT00000053932.1	G			125273111	+1	no_errors	ENST00000335302	ensembl	human	known	70_37	missense	SNP	0.038	C
OR4N5	390437	genome.wustl.edu	37	14	20612227	20612227	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr14:20612227G>C	ENST00000333629.1	+	1	333	c.333G>C	c.(331-333)gaG>gaC	p.E111D	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	111						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GAGCGGGAGAGATGTTCCTCC	0.478																																																	0													136.0	135.0	136.0					14																	20612227		2203	4300	6503	SO:0001583	missense	390437				CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.333G>C	14.37:g.20612227G>C	ENSP00000332110:p.Glu111Asp		Q6IF11	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E111D	ENST00000333629.1	37	c.333	CCDS32031.1	14	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806542	0.31961	.	.	ENSG00000184394	ENST00000333629	T	0.00354	7.92	4.0	0.0501	0.14292	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44285	D	0.000464	T	0.00384	0.0012	L	0.37466	1.105	0.09310	N	1	D	0.71674	0.998	D	0.77557	0.99	T	0.55805	-0.8083	10	0.39692	T	0.17	.	7.8459	0.29424	0.399:0.0:0.601:0.0	.	111	Q8IXE1	OR4N5_HUMAN	D	111	ENSP00000332110:E111D	ENSP00000332110:E111D	E	+	3	2	OR4N5	19682067	0.000000	0.05858	0.953000	0.39169	0.862000	0.49288	-0.208000	0.09371	0.116000	0.18110	-0.136000	0.14681	GAG	OR4N5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.478	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4N5	HGNC	protein_coding	OTTHUMT00000410347.1	G			20612227	+1	no_errors	ENST00000333629	ensembl	human	known	70_37	missense	SNP	0.000	C
OR5M10	390167	genome.wustl.edu	37	11	56344838	56344838	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr11:56344838C>G	ENST00000526812.2	-	1	425	c.360G>C	c.(358-360)ttG>ttC	p.L120F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						CATAGCGATCCAATGCCATTG	0.463																																																	0													172.0	155.0	161.0					11																	56344838		2007	4190	6197	SO:0001583	missense	390167			BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.360G>C	11.37:g.56344838C>G	ENSP00000436004:p.Leu120Phe		B9EIL9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L120F	ENST00000526812.2	37	c.360	CCDS53630.1	11	.	.	.	.	.	.	.	.	.	.	C	7.185	0.590444	0.13812	.	.	ENSG00000254834	ENST00000526812	T	0.00293	8.26	4.04	-1.27	0.09347	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00073	0.0002	N	0.00462	-1.47	0.24000	N	0.996215	P	0.37548	0.599	B	0.32677	0.15	T	0.45687	-0.9244	9	0.45353	T	0.12	.	13.7061	0.62639	0.7948:0.2052:0.0:0.0	.	120	Q6IEU7	OR5MA_HUMAN	F	120	ENSP00000436004:L120F	ENSP00000436004:L120F	L	-	3	2	OR5M10	56101414	0.000000	0.05858	0.034000	0.17996	0.003000	0.03518	-0.764000	0.04735	-0.006000	0.14370	-0.210000	0.12710	TTG	OR5M10	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.463	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M10	HGNC	protein_coding	OTTHUMT00000391609.1	C	NM_001004741		56344838	-1	no_errors	ENST00000526812	ensembl	human	known	70_37	missense	SNP	0.101	G
PCDH1	5097	genome.wustl.edu	37	5	141243774	141243774	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr5:141243774C>T	ENST00000394536.3	-	3	2261	c.2122G>A	c.(2122-2124)Gag>Aag	p.E708K	PCDH1_ENST00000287008.3_Missense_Mutation_p.E708K|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000456271.1_Missense_Mutation_p.E696K|PCDH1_ENST00000536585.1_Missense_Mutation_p.E686K|PCDH1_ENST00000511044.1_5'UTR	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	708	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell-cell signaling (GO:0007267)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TTGTCATTCTCGTCCAGCACA	0.567																																					Ovarian(132;1609 1739 4190 14731 45037)												0													145.0	129.0	134.0					5																	141243774		2203	4300	6503	SO:0001583	missense	5097			AK075233	CCDS4267.1, CCDS43375.1	5q31.3	2010-01-26	2007-02-12		ENSG00000156453	ENSG00000156453		"""Cadherins / Protocadherins : Non-clustered"""	8655	protein-coding gene	gene with protein product		603626	"""protocadherin 1 (cadherin-like 1)"""			8508762	Standard	NM_032420		Approved	pc42	uc003llp.3	Q08174	OTTHUMG00000129661	ENST00000394536.3:c.2122G>A	5.37:g.141243774C>T	ENSP00000378043:p.Glu708Lys		Q8IUP2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E708K	ENST00000394536.3	37	c.2122	CCDS43375.1	5	.	.	.	.	.	.	.	.	.	.	c	14.82	2.650506	0.47362	.	.	ENSG00000156453	ENST00000287008;ENST00000394536;ENST00000456271;ENST00000357517;ENST00000536585	T;T;T;T;T	0.60920	0.15;4.67;4.67;4.67;4.67	5.25	5.25	0.73442	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.50627	D	0.000112	T	0.66934	0.2840	L	0.33093	0.98	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.97;0.986	T	0.68284	-0.5449	10	0.52906	T	0.07	.	16.3548	0.83232	0.0:1.0:0.0:0.0	.	708;708	Q08174;Q08174-2	PCDH1_HUMAN;.	K	708;708;696;719;686	ENSP00000287008:E708K;ENSP00000378043:E708K;ENSP00000403497:E696K;ENSP00000350122:E719K;ENSP00000438825:E686K	ENSP00000287008:E708K	E	-	1	0	PCDH1	141223958	1.000000	0.71417	0.998000	0.56505	0.491000	0.33493	6.056000	0.71111	2.463000	0.83235	0.450000	0.29827	GAG	PCDH1	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.567	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1	C	NM_032420		141243774	-1	no_errors	ENST00000287008	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDH15	65217	genome.wustl.edu	37	10	56089395	56089395	+	Silent	SNP	A	A	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr10:56089395A>G	ENST00000320301.6	-	7	1060	c.666T>C	c.(664-666)taT>taC	p.Y222Y	PCDH15_ENST00000395446.1_Silent_p.Y222Y|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Silent_p.Y222Y|PCDH15_ENST00000361849.3_Silent_p.Y222Y|PCDH15_ENST00000395432.2_Intron|PCDH15_ENST00000373965.2_Silent_p.Y222Y|PCDH15_ENST00000414778.1_Silent_p.Y227Y|PCDH15_ENST00000373955.1_Silent_p.Y222Y|PCDH15_ENST00000395440.1_Silent_p.Y222Y|PCDH15_ENST00000437009.1_Silent_p.Y222Y|PCDH15_ENST00000395433.1_Silent_p.Y200Y|PCDH15_ENST00000395430.1_Silent_p.Y222Y|PCDH15_ENST00000395438.1_Silent_p.Y222Y|PCDH15_ENST00000373957.3_Silent_p.Y200Y|PCDH15_ENST00000395442.1_Silent_p.Y222Y	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	222	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCTTATCTTCATAGTTGAGCC	0.323										HNSCC(58;0.16)																																							0													163.0	159.0	160.0					10																	56089395		2203	4300	6503	SO:0001819	synonymous_variant	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.666T>C	10.37:g.56089395A>G			A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y222	ENST00000320301.6	37	c.666	CCDS7248.1	10																																																																																			PCDH15	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.323	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	A	NM_033056		56089395	-1	no_errors	ENST00000320301	ensembl	human	known	70_37	silent	SNP	1.000	G
PCDH20	64881	genome.wustl.edu	37	13	61987728	61987728	+	Silent	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr13:61987728G>A	ENST00000409186.1	-	5	2609	c.504C>T	c.(502-504)atC>atT	p.I168I	PCDH20_ENST00000409204.4_Silent_p.I168I			Q8N6Y1	PCD20_HUMAN	protocadherin 20	168	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GAGAGGAGGAGATGGAAACGC	0.562																																																	0													84.0	66.0	72.0					13																	61987728		2203	4300	6503	SO:0001819	synonymous_variant	64881			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.504C>T	13.37:g.61987728G>A			A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I168	ENST00000409186.1	37	c.504	CCDS9442.2	13																																																																																			PCDH20	-	pfscan_Cadherin		0.562	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PCDH20	HGNC	protein_coding	OTTHUMT00000333054.2	G	NM_022843		61987728	-1	no_errors	ENST00000409186	ensembl	human	known	70_37	silent	SNP	0.979	A
PCDHA3	56145	genome.wustl.edu	37	5	140182427	140182427	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr5:140182427G>A	ENST00000522353.2	+	1	1645	c.1645G>A	c.(1645-1647)Gtg>Atg	p.V549M	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.V549M	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	549	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCAGCAACGTGACGCTGCA	0.677																																																	0																																										SO:0001583	missense	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1645G>A	5.37:g.140182427G>A	ENSP00000429808:p.Val549Met		O75286	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V549M	ENST00000522353.2	37	c.1645	CCDS54915.1	5	.	.	.	.	.	.	.	.	.	.	g	18.24	3.579180	0.65878	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.53640	0.61;0.61	4.68	4.68	0.58851	Cadherin (5);Cadherin-like (1);	0.000000	0.37623	U	0.002010	T	0.66489	0.2794	M	0.80183	2.485	0.28107	N	0.931144	D;D	0.63880	0.993;0.977	P;P	0.61328	0.887;0.532	T	0.64931	-0.6291	10	0.87932	D	0	.	13.7316	0.62792	0.0:0.1545:0.8455:0.0	.	549;549	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	M	549	ENSP00000429808:V549M;ENSP00000434086:V549M	ENSP00000429808:V549M	V	+	1	0	PCDHA3	140162611	0.982000	0.34865	1.000000	0.80357	0.717000	0.41224	5.163000	0.64948	2.340000	0.79590	0.306000	0.20318	GTG	PCDHA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.677	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	G	NM_018906		140182427	+1	no_errors	ENST00000522353	ensembl	human	known	70_37	missense	SNP	1.000	A
PCGF3	10336	genome.wustl.edu	37	4	758843	758843	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr4:758843G>T	ENST00000362003.5	+	10	1067	c.672G>T	c.(670-672)tgG>tgT	p.W224C	RP11-440L14.1_ENST00000507446.1_RNA|PCGF3_ENST00000470161.2_Missense_Mutation_p.W224C|RP11-440L14.1_ENST00000503571.1_RNA|PCGF3_ENST00000521023.2_Missense_Mutation_p.W190C|PCGF3_ENST00000505655.2_Missense_Mutation_p.W224C|AC139887.4_ENST00000454037.1_RNA	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						TCACTAGGTGGAGATTCAAGG	0.458																																																	0													102.0	106.0	105.0					4																	758843		2023	4176	6199	SO:0001583	missense	10336			AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	10066	protein-coding gene	gene with protein product			"""ring finger protein 3"""	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.672G>T	4.37:g.758843G>T	ENSP00000354724:p.Trp224Cys		D3DVN1|O15262	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.W224C	ENST00000362003.5	37	c.672	CCDS3339.2	4	.	.	.	.	.	.	.	.	.	.	G	21.6	4.177756	0.78564	.	.	ENSG00000185619	ENST00000362003;ENST00000470161;ENST00000521023;ENST00000505655	T;T;T	0.55234	0.53;0.53;0.53	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.73892	0.3645	M	0.81802	2.56	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.97;1.0;0.999	T	0.77846	-0.2436	10	0.66056	D	0.02	-20.1203	15.9106	0.79470	0.0:0.0:1.0:0.0	.	190;190;224	B3KWT8;B3KQ06;Q3KNV8	.;.;PCGF3_HUMAN	C	224;224;190;224	ENSP00000354724:W224C;ENSP00000420489:W224C;ENSP00000423393:W224C	ENSP00000354724:W224C	W	+	3	0	PCGF3	748843	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.128000	0.94424	2.348000	0.79779	0.561000	0.74099	TGG	PCGF3	-	NULL		0.458	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF3	HGNC	protein_coding	OTTHUMT00000239197.2	G	NM_006315		758843	+1	no_errors	ENST00000362003	ensembl	human	known	70_37	missense	SNP	1.000	T
PCNX	22990	genome.wustl.edu	37	14	71489920	71489920	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr14:71489920G>T	ENST00000304743.2	+	13	3600	c.3154G>T	c.(3154-3156)Gtt>Ttt	p.V1052F	PCNX_ENST00000238570.5_Missense_Mutation_p.V1052F|PCNX_ENST00000439984.3_Missense_Mutation_p.V941F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1052						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTTTTAGAGTGTTCAACCAGA	0.303																																																	0													187.0	176.0	180.0					14																	71489920		2203	4299	6502	SO:0001583	missense	22990			AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3154G>T	14.37:g.71489920G>T	ENSP00000304192:p.Val1052Phe		B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	pfam_Pecanex	p.V1052F	ENST00000304743.2	37	c.3154	CCDS9806.1	14	.	.	.	.	.	.	.	.	.	.	G	27.6	4.847873	0.91277	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.75938	-0.98;-0.98;-0.98	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	D	0.88614	0.6484	M	0.87758	2.905	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.991	D	0.89861	0.4016	10	0.87932	D	0	.	19.7347	0.96198	0.0:0.0:1.0:0.0	.	941;1052	B2RTR6;Q96RV3	.;PCX1_HUMAN	F	1052;1052;941	ENSP00000304192:V1052F;ENSP00000238570:V1052F;ENSP00000396617:V941F	ENSP00000238570:V1052F	V	+	1	0	PCNX	70559673	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.386000	0.97228	2.746000	0.94184	0.655000	0.94253	GTT	PCNX	-	NULL		0.303	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNX	HGNC	protein_coding	OTTHUMT00000412479.1	G	NM_014982		71489920	+1	no_errors	ENST00000304743	ensembl	human	known	70_37	missense	SNP	1.000	T
PDE1B	5153	genome.wustl.edu	37	12	54960780	54960780	+	Silent	SNP	T	T	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:54960780T>C	ENST00000243052.3	+	3	572	c.136T>C	c.(136-138)Ttg>Ctg	p.L46L	PDE1B_ENST00000550620.1_Silent_p.L26L|PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Silent_p.L5L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	46	Calmodulin-binding. {ECO:0000255}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	GGTGAAGCAGTTGGAGAATGG	0.488																																																	0													96.0	93.0	94.0					12																	54960780		2203	4300	6503	SO:0001819	synonymous_variant	5153			U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.136T>C	12.37:g.54960780T>C			Q92825|Q96KP3	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase	p.L46	ENST00000243052.3	37	c.136	CCDS8882.1	12																																																																																			PDE1B	-	NULL		0.488	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE1B	HGNC	protein_coding	OTTHUMT00000406203.1	T			54960780	+1	no_errors	ENST00000243052	ensembl	human	known	70_37	silent	SNP	1.000	C
PDE6B	5158	genome.wustl.edu	37	4	657639	657639	+	Silent	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr4:657639G>A	ENST00000496514.1	+	16	2022	c.2001G>A	c.(1999-2001)acG>acA	p.T667T	RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Silent_p.T667T|PDE6B_ENST00000429163.2_Silent_p.T388T			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	667					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	TCATCGCCACGGACCTGGCCC	0.692																																					GBM(71;463 1194 9848 25922 46834)												0													48.0	47.0	47.0					4																	657639		2202	4300	6502	SO:0001819	synonymous_variant	5158			BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2001G>A	4.37:g.657639G>A			B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.T667	ENST00000496514.1	37	c.2001	CCDS33932.1	4																																																																																			PDE6B	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom		0.692	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE6B	HGNC	protein_coding	OTTHUMT00000358109.1	G	NM_000283		657639	+1	no_errors	ENST00000496514	ensembl	human	known	70_37	silent	SNP	0.014	A
PDXK	8566	genome.wustl.edu	37	21	45176059	45176059	+	3'UTR	SNP	C	C	T	rs533310449		TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr21:45176059C>T	ENST00000291565.4	+	0	1237				PDXK_ENST00000467908.1_3'UTR|PDXK_ENST00000468090.1_3'UTR	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase						cell proliferation (GO:0008283)|pyridoxal 5'-phosphate salvage (GO:0009443)|pyridoxal phosphate biosynthetic process (GO:0042823)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|lithium ion binding (GO:0031403)|magnesium ion binding (GO:0000287)|potassium ion binding (GO:0030955)|protein homodimerization activity (GO:0042803)|pyridoxal kinase activity (GO:0008478)|pyridoxal phosphate binding (GO:0030170)|sodium ion binding (GO:0031402)|zinc ion binding (GO:0008270)			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	TTTTTTCTTTCATGAGTGTCC	0.463																																																	0																																										SO:0001624	3_prime_UTR_variant	8566			U89606	CCDS13699.1	21q22.3	2007-05-10			ENSG00000160209	ENSG00000160209	2.7.1.35		8819	protein-coding gene	gene with protein product		179020	"""chromosome 21 open reading frame 97"", ""chromosome 21 open reading frame 124"""	C21orf97, C21orf124		9099727	Standard	NM_003681		Approved	PNK, PKH, FLJ21324, PRED79, FLJ31940, MGC15873	uc002zdm.4	O00764	OTTHUMG00000086870	ENST00000291565.4:c.*115C>T	21.37:g.45176059C>T			Q7Z2Y0|Q9BS02	RNA	SNP	-	NULL	ENST00000291565.4	37	NULL	CCDS13699.1	21																																																																																			PDXK	-	-		0.463	PDXK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDXK	HGNC	protein_coding	OTTHUMT00000195636.1	C	NM_003681		45176059	+1	no_errors	ENST00000343528	ensembl	human	known	70_37	rna	SNP	0.250	T
PHYHIP	9796	genome.wustl.edu	37	8	22085783	22085783	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr8:22085783C>T	ENST00000321613.3	-	3	544	c.88G>A	c.(88-90)Gac>Aac	p.D30N	PHYHIP_ENST00000454243.2_Missense_Mutation_p.D30N	NM_001099335.1	NP_001092805.1	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	30	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		CTCTCCAGGTCACTGTCCTCC	0.537																																																	0													104.0	107.0	106.0					8																	22085783		2089	4224	6313	SO:0001583	missense	9796			D87463	CCDS43723.1	8p21.2	2010-02-17	2006-01-09		ENSG00000168490	ENSG00000168490			16865	protein-coding gene	gene with protein product		608511	"""phytanoyl-CoA hydroxylase interacting protein"", ""DYRK1A interacting protein 3"""	DYRK1AP3		9039502, 10686344	Standard	NM_014759		Approved	KIAA0273, PAHX-AP	uc003xbj.4	Q92561	OTTHUMG00000163776	ENST00000321613.3:c.88G>A	8.37:g.22085783C>T	ENSP00000320017:p.Asp30Asn		D3DSR1|Q8N4I9	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.D30N	ENST00000321613.3	37	c.88	CCDS43723.1	8	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575736	0.65878	.	.	ENSG00000168490	ENST00000321613;ENST00000454243;ENST00000456132	T;T	0.47869	0.83;0.83	5.67	5.67	0.87782	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.36608	0.0973	N	0.19112	0.55	0.43613	D	0.995982	B	0.16166	0.016	B	0.15484	0.013	T	0.07927	-1.0747	10	0.31617	T	0.26	-45.7986	18.5258	0.90971	0.0:1.0:0.0:0.0	.	30	Q92561	PHYIP_HUMAN	N	30	ENSP00000320017:D30N;ENSP00000415491:D30N	ENSP00000320017:D30N	D	-	1	0	PHYHIP	22141728	0.940000	0.31905	1.000000	0.80357	0.998000	0.95712	1.658000	0.37376	2.675000	0.91044	0.511000	0.50034	GAC	PHYHIP	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.537	PHYHIP-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PHYHIP	HGNC	protein_coding	OTTHUMT00000375388.1	C	NM_014759		22085783	-1	no_errors	ENST00000454243	ensembl	human	known	70_37	missense	SNP	1.000	T
PIP5K1A	8394	genome.wustl.edu	37	1	151220422	151220422	+	IGR	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:151220422G>C	ENST00000368888.4	+	0	2134				PIP5K1A_ENST00000368890.4_3'UTR|PIP5K1A_ENST00000414290.2_Nonstop_Mutation_p.*199S|PIP5K1A_ENST00000441902.2_3'UTR|PIP5K1A_ENST00000409426.1_3'UTR	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha						actin cytoskeleton reorganization (GO:0031532)|activation of Rac GTPase activity (GO:0032863)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|fibroblast migration (GO:0010761)|focal adhesion assembly (GO:0048041)|glycerophospholipid metabolic process (GO:0006650)|keratinocyte differentiation (GO:0030216)|phagocytosis (GO:0006909)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|protein targeting to plasma membrane (GO:0072661)|ruffle assembly (GO:0097178)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|kinase binding (GO:0019900)			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCAATGCTGAATTTTCTTC	0.468																																					Pancreas(80;36 1443 2325 16095 21302)												0													42.0	34.0	37.0					1																	151220422		692	1591	2283	SO:0001628	intergenic_variant	8394			U78575	CCDS990.1, CCDS44219.1, CCDS44220.1, CCDS44221.1	1q21.3	2010-04-08			ENSG00000143398	ENSG00000143398			8994	protein-coding gene	gene with protein product		603275				8955136, 10828584	Standard	NM_003557		Approved		uc001exj.3	Q99755	OTTHUMG00000012351		1.37:g.151220422G>C			A8K4Q0|B4DIN0|Q99754|Q99756	Nonstop_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.*199S	ENST00000368888.4	37	c.596	CCDS44219.1	1	.	.	.	.	.	.	.	.	.	.	G	8.484	0.860377	0.17178	.	.	ENSG00000143398	ENST00000414290	.	.	.	4.92	4.92	0.64577	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5027	0.61467	0.0:0.0:1.0:0.0	.	.	.	.	S	199	.	.	X	+	2	2	PIP5K1A	149487046	1.000000	0.71417	0.992000	0.48379	0.048000	0.14542	1.786000	0.38694	2.559000	0.86315	0.467000	0.42956	TGA	PIP5K1A	-	NULL		0.468	PIP5K1A-003	KNOWN	basic|CCDS	protein_coding	PIP5K1A	HGNC	protein_coding	OTTHUMT00000034425.2	G	NM_003557		151220422	+1	no_errors	ENST00000414290	ensembl	human	known	70_37	nonstop	SNP	0.998	C
POLR3G	10622	genome.wustl.edu	37	5	89781433	89781433	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr5:89781433G>C	ENST00000399107.1	+	2	249	c.49G>C	c.(49-51)Gag>Cag	p.E17Q	POLR3G_ENST00000514483.1_Missense_Mutation_p.E17Q|POLR3G_ENST00000504930.1_Missense_Mutation_p.E17Q	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	17					cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		CTTTAATATTGAGGCTGTTGG	0.398																																																	0													129.0	116.0	120.0					5																	89781433		1859	4096	5955	SO:0001583	missense	10622			U93868	CCDS43337.1	5q14.3	2014-06-05			ENSG00000113356	ENSG00000113356		"""RNA polymerase subunits"""	30075	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006467		Approved	RPC32, RPC7	uc003kjq.3	O15318	OTTHUMG00000162809	ENST00000399107.1:c.49G>C	5.37:g.89781433G>C	ENSP00000382058:p.Glu17Gln		A8MTH0	Missense_Mutation	SNP	pfam_RNA_pol_III_Rpc31	p.E17Q	ENST00000399107.1	37	c.49	CCDS43337.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.220664	0.79464	.	.	ENSG00000113356	ENST00000512239;ENST00000505345;ENST00000503373;ENST00000503973;ENST00000399107;ENST00000504930;ENST00000514483	.	.	.	5.41	5.41	0.78517	.	0.093898	0.64402	D	0.000001	T	0.74816	0.3766	M	0.83012	2.62	0.46981	D	0.999279	D	0.52996	0.957	P	0.54431	0.752	T	0.77099	-0.2713	9	0.49607	T	0.09	-34.1046	13.8199	0.63313	0.0:0.1535:0.8465:0.0	.	17	O15318	RPC7_HUMAN	Q	17	.	ENSP00000382058:E17Q	E	+	1	0	POLR3G	89817189	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.748000	0.62148	2.697000	0.92050	0.563000	0.77884	GAG	POLR3G	-	pfam_RNA_pol_III_Rpc31		0.398	POLR3G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3G	HGNC	protein_coding	OTTHUMT00000370462.1	G	NM_006467		89781433	+1	no_errors	ENST00000399107	ensembl	human	known	70_37	missense	SNP	1.000	C
POPDC3	64208	genome.wustl.edu	37	6	105607617	105607618	+	Missense_Mutation	DNP	GA	GA	AT			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr6:105607617_105607618GA>AT	ENST00000254765.3	-	3	840_841	c.562_563TC>AT	c.(562-564)TCa>ATa	p.S188I	BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|BVES-AS1_ENST00000369120.2_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	188					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GGGTCTCAGTGAATCCCACTCA	0.406																																																	0																																										SO:0001583	missense	64208			BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.562_563delinsAT	6.37:g.105607617_105607618delinsAT	ENSP00000254765:p.Ser188Ile		B2RA98|Q5T3Y8|Q8TBW6	Missense_Mutation	SNP	pfam_Popeye_prot,superfamily_cNMP-bd-like	p.S188L|p.S188T	ENST00000254765.3	37	c.563|c.562	CCDS5052.1	6																																																																																			POPDC3	-	pfam_Popeye_prot,superfamily_cNMP-bd-like		0.406	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POPDC3	HGNC	protein_coding	OTTHUMT00000041651.1	G|A	NM_022361		105607617|105607618	-1	no_errors	ENST00000254765	ensembl	human	known	70_37	missense	SNP	1.000	A|T
PPY2P	23614	genome.wustl.edu	37	17	26575172	26575172	+	lincRNA	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr17:26575172C>G	ENST00000579045.1	-	0	0				PPY2_ENST00000583761.1_RNA																							ACAGAGAGCTCAGCCCGCTGG	0.652																																																	0																																												23614																															17.37:g.26575172C>G				RNA	SNP	-	NULL	ENST00000579045.1	37	NULL		17																																																																																			PPY2	-	-		0.652	CTD-2008P7.8-001	KNOWN	basic	lincRNA	PPY2	HGNC	lincRNA	OTTHUMT00000446190.1	C			26575172	+1	no_errors	ENST00000583761	ensembl	human	known	70_37	rna	SNP	0.277	G
PRDM15	63977	genome.wustl.edu	37	21	43231133	43231133	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr21:43231133C>G	ENST00000269844.3	-	27	3660	c.3550G>C	c.(3550-3552)Gag>Cag	p.E1184Q	PRDM15_ENST00000538201.1_Missense_Mutation_p.E838Q|PRDM15_ENST00000470586.1_5'Flank|PRDM15_ENST00000422911.1_Missense_Mutation_p.E875Q|PRDM15_ENST00000398548.1_Missense_Mutation_p.E855Q|PRDM15_ENST00000447207.2_Missense_Mutation_p.E818Q	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1184					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTGTGGGTCTCCATGGTGTTC	0.562																																																	0													114.0	95.0	102.0					21																	43231133		2203	4300	6503	SO:0001583	missense	63977			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3550G>C	21.37:g.43231133C>G	ENSP00000269844:p.Glu1184Gln		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.E1184Q	ENST00000269844.3	37	c.3550	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	c	21.6	4.180238	0.78677	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	4.74	4.74	0.60224	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.58293	0.2112	N	0.12569	0.235	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.997;0.999	D;D;D	0.81914	0.994;0.986;0.995	T	0.57171	-0.7857	9	0.19590	T	0.45	-39.7501	16.725	0.85419	0.0:1.0:0.0:0.0	.	1184;875;855	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	Q	875;855;838;818;1184	ENSP00000408592:E875Q;ENSP00000381556:E855Q;ENSP00000444044:E838Q;ENSP00000390245:E818Q;ENSP00000269844:E1184Q	ENSP00000269844:E1184Q	E	-	1	0	PRDM15	42104202	1.000000	0.71417	1.000000	0.80357	0.533000	0.34776	7.540000	0.82074	2.162000	0.67917	0.651000	0.88453	GAG	PRDM15	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.562	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		C	NM_022115		43231133	-1	no_errors	ENST00000269844	ensembl	human	known	70_37	missense	SNP	1.000	G
PRDM15	63977	genome.wustl.edu	37	21	43231143	43231143	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr21:43231143C>A	ENST00000269844.3	-	27	3650	c.3540G>T	c.(3538-3540)agG>agT	p.R1180S	PRDM15_ENST00000538201.1_Missense_Mutation_p.R834S|PRDM15_ENST00000470586.1_5'Flank|PRDM15_ENST00000422911.1_Missense_Mutation_p.R871S|PRDM15_ENST00000398548.1_Missense_Mutation_p.R851S|PRDM15_ENST00000447207.2_Missense_Mutation_p.R814S	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1180					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCATGGTGTTCCTCTCGCTGA	0.547																																																	0													124.0	102.0	109.0					21																	43231143		2203	4300	6503	SO:0001583	missense	63977			AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3540G>T	21.37:g.43231143C>A	ENSP00000269844:p.Arg1180Ser		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.R1180S	ENST00000269844.3	37	c.3540	CCDS13676.1	21	.	.	.	.	.	.	.	.	.	.	c	15.01	2.706875	0.48412	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.59906	0.23;0.23;0.23;0.23;0.23	4.89	-1.52	0.08637	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.46190	0.1380	N	0.24115	0.695	0.37616	D	0.921135	D;P;P	0.56521	0.976;0.799;0.9	P;B;P	0.54815	0.761;0.214;0.498	T	0.50676	-0.8800	9	0.06891	T	0.86	-25.5339	10.0295	0.42092	0.0:0.3986:0.0:0.6014	.	1180;871;851	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	S	871;851;834;814;1180	ENSP00000408592:R871S;ENSP00000381556:R851S;ENSP00000444044:R834S;ENSP00000390245:R814S;ENSP00000269844:R1180S	ENSP00000269844:R1180S	R	-	3	2	PRDM15	42104212	0.992000	0.36948	0.966000	0.40874	0.654000	0.38779	0.287000	0.18920	-0.528000	0.06366	-0.141000	0.14075	AGG	PRDM15	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.547	PRDM15-201	KNOWN	basic|CCDS	protein_coding	PRDM15	HGNC	protein_coding		C	NM_022115		43231143	-1	no_errors	ENST00000269844	ensembl	human	known	70_37	missense	SNP	0.997	A
PRKAR2A	5576	genome.wustl.edu	37	3	48884906	48884906	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr3:48884906C>T	ENST00000265563.8	-	1	373	c.124G>A	c.(124-126)Gag>Aag	p.E42K	PRKAR2A-AS1_ENST00000412171.2_RNA|PRKAR2A-AS1_ENST00000435419.1_RNA|PRKAR2A_ENST00000454963.1_Missense_Mutation_p.E42K|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.E42K|PRKAR2A-AS1_ENST00000431705.1_RNA|PRKAR2A-AS1_ENST00000416209.2_RNA	NM_004157.2	NP_004148.1	P13861	KAP2_HUMAN	protein kinase, cAMP-dependent, regulatory, type II, alpha	42	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)|ubiquitin protein ligase binding (GO:0031625)		SLC26A6/PRKAR2A(2)	breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261)		GCGCGGGCCTCGCGCAGGCGG	0.731																																																	0													7.0	12.0	10.0					3																	48884906		2081	4079	6160	SO:0001583	missense	5576				CCDS2778.1	3p21.3-p21.2	2009-07-10			ENSG00000114302	ENSG00000114302	2.7.11.1		9391	protein-coding gene	gene with protein product		176910		PRKAR2		9676433	Standard	NM_004157		Approved		uc003cux.1	P13861	OTTHUMG00000133540	ENST00000265563.8:c.124G>A	3.37:g.48884906C>T	ENSP00000265563:p.Glu42Lys		Q16823|Q9BUB1	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.E42K	ENST00000265563.8	37	c.124	CCDS2778.1	3	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988195	0.74589	.	.	ENSG00000114302	ENST00000265563;ENST00000454963;ENST00000296446;ENST00000419216	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	3.86	3.86	0.44501	cAMP-dependent protein kinase, regulatory subunit, type I/II alpha/beta (3);	0.110108	0.38058	N	0.001824	T	0.66025	0.2748	L	0.38175	1.15	0.44611	D	0.997588	P;P	0.41345	0.746;0.746	B;B	0.36567	0.228;0.228	T	0.64706	-0.6344	10	0.16896	T	0.51	0.1594	15.1594	0.72771	0.0:1.0:0.0:0.0	.	42;42	Q9BUB1;P13861	.;KAP2_HUMAN	K	42	ENSP00000265563:E42K;ENSP00000394041:E42K;ENSP00000296446:E42K;ENSP00000411432:E42K	ENSP00000265563:E42K	E	-	1	0	PRKAR2A	48859910	1.000000	0.71417	1.000000	0.80357	0.775000	0.43874	3.785000	0.55424	1.866000	0.54105	0.460000	0.39030	GAG	PRKAR2A	-	pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,pirsf_cAMP_dep_PK_reg_su		0.731	PRKAR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAR2A	HGNC	protein_coding	OTTHUMT00000257518.1	C			48884906	-1	no_errors	ENST00000265563	ensembl	human	known	70_37	missense	SNP	1.000	T
PRPF38A	84950	genome.wustl.edu	37	1	52878201	52878201	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:52878201G>C	ENST00000257181.9	+	5	700	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	PRPF38A_ENST00000474048.1_3'UTR|snoU13_ENST00000458879.1_RNA	NM_032864.3	NP_116253.2	Q8NAV1	PR38A_HUMAN	pre-mRNA processing factor 38A	172					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			cervix(2)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|stomach(1)	9						CTATGTATTAGAGGAAGCTGA	0.478																																																	0													79.0	81.0	80.0					1																	52878201		2203	4300	6503	SO:0001583	missense	84950			AK092038	CCDS567.1	1p32.3	2013-10-03	2013-10-03		ENSG00000134748	ENSG00000134748			25930	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing A"""			12477932	Standard	NM_032864		Approved	FLJ14936, Prp38	uc001ctw.4	Q8NAV1	OTTHUMG00000008199	ENST00000257181.9:c.514G>C	1.37:g.52878201G>C	ENSP00000257181:p.Glu172Gln		Q96JW1|Q9BVZ8	Missense_Mutation	SNP	pfam_PRP38	p.E172Q	ENST00000257181.9	37	c.514	CCDS567.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.125441	0.94429	.	.	ENSG00000134748	ENST00000257181	.	.	.	5.73	5.73	0.89815	.	0.043220	0.85682	D	0.000000	D	0.86125	0.5858	M	0.92880	3.355	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	D	0.85837	0.1395	9	0.33940	T	0.23	-22.0549	19.9161	0.97063	0.0:0.0:1.0:0.0	.	172	Q8NAV1	PR38A_HUMAN	Q	172	.	ENSP00000257181:E172Q	E	+	1	0	PRPF38A	52650789	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	9.059000	0.93902	2.710000	0.92621	0.650000	0.86243	GAG	PRPF38A	-	pfam_PRP38		0.478	PRPF38A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF38A	HGNC	protein_coding	OTTHUMT00000022459.2	G	NM_032864		52878201	+1	no_errors	ENST00000257181	ensembl	human	known	70_37	missense	SNP	1.000	C
PSMG1	8624	genome.wustl.edu	37	21	40550497	40550497	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr21:40550497G>C	ENST00000331573.3	-	5	998	c.533C>G	c.(532-534)tCa>tGa	p.S178*	PSMG1_ENST00000380900.2_Nonsense_Mutation_p.S157*	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	178					cerebellar granule cell precursor proliferation (GO:0021930)|proteasome assembly (GO:0043248)|proteasome core complex assembly (GO:0080129)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)				autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				GGTGGATTCTGAGGTTTTATA	0.393																																																	0													110.0	112.0	111.0					21																	40550497		2203	4300	6503	SO:0001587	stop_gained	8624			AJ006291	CCDS13660.1, CCDS13661.1	21q22.3	2007-10-23	2007-10-23	2007-10-23	ENSG00000183527	ENSG00000183527			3043	protein-coding gene	gene with protein product		605296	"""Down syndrome critical region gene 2"""	DSCR2		10872820, 17189198	Standard	NM_003720		Approved	c21-LRP, LRPC21, PAC1	uc002yxi.4	O95456	OTTHUMG00000066034	ENST00000331573.3:c.533C>G	21.37:g.40550497G>C	ENSP00000329915:p.Ser178*		B5BUN2|Q6FHA3|Q6FHD3|Q6S713	Nonsense_Mutation	SNP	pirsf_Proteasome_assmbl_chp_1	p.S178*	ENST00000331573.3	37	c.533	CCDS13660.1	21	.	.	.	.	.	.	.	.	.	.	G	26.8	4.772327	0.90108	.	.	ENSG00000183527	ENST00000331573;ENST00000380900	.	.	.	5.5	3.66	0.41972	.	0.857206	0.10579	N	0.658107	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	0.4864	8.5988	0.33732	0.0691:0.1073:0.7022:0.1214	.	.	.	.	X	178;157	.	ENSP00000329915:S178X	S	-	2	0	PSMG1	39472367	1.000000	0.71417	0.240000	0.24138	0.724000	0.41520	3.282000	0.51693	0.283000	0.22279	-1.119000	0.02030	TCA	PSMG1	-	pirsf_Proteasome_assmbl_chp_1		0.393	PSMG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMG1	HGNC	protein_coding	OTTHUMT00000141404.2	G	NM_003720		40550497	-1	no_errors	ENST00000331573	ensembl	human	known	70_37	nonsense	SNP	0.945	C
PTEN	5728	genome.wustl.edu	37	10	89653925	89653925	+	Intron	SNP	C	C	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr10:89653925C>A	ENST00000371953.3	+	2	1521					NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(4)|p.Y27fs*1(2)|p.V54fs*29(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTTGTGTTTTCATTTAGAAAA	0.294		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	44	Whole gene deletion(37)|Unknown(4)|Deletion - Frameshift(3)	prostate(14)|central_nervous_system(9)|skin(6)|haematopoietic_and_lymphoid_tissue(4)|lung(4)|ovary(3)|breast(2)|soft_tissue(1)|urinary_tract(1)											47.0	40.0	42.0					10																	89653925		692	1584	2276	SO:0001627	intron_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.164+59C>A	10.37:g.89653925C>A			B2R904|F2YHV0|O00633|O02679|Q6ICT7	RNA	SNP	-	NULL	ENST00000371953.3	37	NULL	CCDS31238.1	10																																																																																			PTEN	-	-		0.294	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	C	NM_000314		89653925	+1	no_errors	ENST00000462694	ensembl	human	known	70_37	rna	SNP	0.244	A
PTPRM	5797	genome.wustl.edu	37	18	8296421	8296421	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr18:8296421G>C	ENST00000332175.8	+	18	3808	c.2771G>C	c.(2770-2772)aGa>aCa	p.R924T	PTPRM_ENST00000400053.4_Missense_Mutation_p.R862T|PTPRM_ENST00000444013.1_Missense_Mutation_p.R711T|PTPRM_ENST00000400060.4_Missense_Mutation_p.R938T|PTPRM_ENST00000580170.1_Missense_Mutation_p.R937T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	924	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GATGAGAACAGAATGAAGAAC	0.418																																																	0													220.0	187.0	198.0					18																	8296421		2203	4300	6503	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2771G>C	18.37:g.8296421G>C	ENSP00000331418:p.Arg924Thr		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R938T	ENST00000332175.8	37	c.2813	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	31	5.059461	0.93846	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.30714	1.52;1.52;1.52;1.52	5.72	5.72	0.89469	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	L	0.58669	1.825	0.80722	D	1	P;D;D	0.58620	0.901;0.983;0.983	P;D;D	0.75020	0.81;0.985;0.985	T	0.51028	-0.8757	10	0.62326	D	0.03	.	20.244	0.98389	0.0:0.0:1.0:0.0	.	711;937;924	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	T	924;938;862;711	ENSP00000331418:R924T;ENSP00000382933:R938T;ENSP00000382927:R862T;ENSP00000387608:R711T	ENSP00000331418:R924T	R	+	2	0	PTPRM	8286421	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.865000	0.98341	0.655000	0.94253	AGA	PTPRM	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.418	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	G			8296421	+1	no_errors	ENST00000400060	ensembl	human	known	70_37	missense	SNP	1.000	C
PVRL4	81607	genome.wustl.edu	37	1	161043069	161043069	+	Silent	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:161043069C>G	ENST00000368012.3	-	8	1556	c.1254G>C	c.(1252-1254)ctG>ctC	p.L418L	PVRL4_ENST00000486694.1_Intron|PVRL4_ENST00000453926.2_Intron	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	418					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCTCGGCTCTCAGCCCTACAC	0.657																																					NSCLC(76;1160 1387 14476 16172 29359)												0													69.0	65.0	66.0					1																	161043069		2203	4300	6503	SO:0001819	synonymous_variant	81607			AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1254G>C	1.37:g.161043069C>G			B4DQW3|Q96K15	Silent	SNP	pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L418	ENST00000368012.3	37	c.1254	CCDS1216.1	1																																																																																			PVRL4	-	NULL		0.657	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL4	HGNC	protein_coding	OTTHUMT00000077074.1	C	NM_030916		161043069	-1	no_errors	ENST00000368012	ensembl	human	known	70_37	silent	SNP	1.000	G
PYROXD2	84795	genome.wustl.edu	37	10	100150489	100150489	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr10:100150489G>T	ENST00000370575.4	-	12	1206	c.1158C>A	c.(1156-1158)agC>agA	p.S386R	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	386							oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						CCGCCAGGAAGCTGGGCAGCC	0.627																																																	0													27.0	23.0	24.0					10																	100150489		2202	4298	6500	SO:0001583	missense	84795			AK074429	CCDS7474.1	10q24.2	2009-04-22	2009-04-22	2009-04-22	ENSG00000119943	ENSG00000119943			23517	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 33"""	C10orf33			Standard	NM_032709		Approved	FLJ23849	uc001kpc.3	Q8N2H3	OTTHUMG00000018877	ENST00000370575.4:c.1158C>A	10.37:g.100150489G>T	ENSP00000359607:p.Ser386Arg		D3DR61|Q5TAA9|Q9BRQ1	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase	p.S386R	ENST00000370575.4	37	c.1158	CCDS7474.1	10	.	.	.	.	.	.	.	.	.	.	G	9.524	1.109175	0.20714	.	.	ENSG00000119943	ENST00000370575	T	0.57752	0.38	4.97	4.97	0.65823	.	0.462724	0.26616	N	0.023395	T	0.33059	0.0850	N	0.16098	0.37	0.37865	D	0.929852	B	0.02656	0.0	B	0.04013	0.001	T	0.23904	-1.0175	10	0.15066	T	0.55	-18.3955	12.3453	0.55118	0.0829:0.0:0.9171:0.0	.	386	Q8N2H3	PYRD2_HUMAN	R	386	ENSP00000359607:S386R	ENSP00000359607:S386R	S	-	3	2	PYROXD2	100140479	1.000000	0.71417	1.000000	0.80357	0.493000	0.33554	2.675000	0.46875	2.314000	0.78098	0.563000	0.77884	AGC	PYROXD2	-	NULL		0.627	PYROXD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PYROXD2	HGNC	protein_coding	OTTHUMT00000049782.2	G	NM_032709		100150489	-1	no_errors	ENST00000370575	ensembl	human	known	70_37	missense	SNP	1.000	T
RBMS1	5937	genome.wustl.edu	37	2	161130979	161130982	+	3'UTR	DEL	TTTC	TTTC	-	rs201326280|rs200119683	byFrequency	TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	TTTC	TTTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr2:161130979_161130982delTTTC	ENST00000348849.3	-	0	1952_1955				ITGB6_ENST00000485635.1_5'Flank|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409075.1_3'UTR|RBMS1_ENST00000409289.2_3'UTR	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1						DNA replication (GO:0006260)|RNA processing (GO:0006396)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)		PLA2R1/RBMS1(2)								tctttttttttttctttttctttt	0.284														613	0.122404	0.0045	0.0576	5008	,	,		17165	0.2748		0.1352	False		,,,				2504	0.1575																0																																										SO:0001624	3_prime_UTR_variant	5937			D28482	CCDS2213.1	2q24.2	2013-02-12			ENSG00000153250	ENSG00000153250		"""RNA binding motif (RRM) containing"""	9907	protein-coding gene	gene with protein product	"""suppressor of cdc 2 (cdc13) with RNA binding motif 2"", ""c-myc gene single strand binding protein 2"""	602310	"""chromosome 2 open reading frame 12"""	C2orf12		8041632, 8134115, 7838710	Standard	NM_016836		Approved	SCR2, MSSP-1, MSSP-2, MSSP-3, YC1, HCC-4, DKFZp564H0764	uc002ubo.3	P29558	OTTHUMG00000132031	ENST00000348849.3:c.*304GAAA>-	2.37:g.161130979_161130982delTTTC			Q14869|Q15433|Q53P46|Q53QX8|Q53RG6|Q8WV20	RNA	DEL	-	NULL	ENST00000348849.3	37	NULL	CCDS2213.1	2																																																																																			RBMS1	-	-		0.284	RBMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMS1	HGNC	protein_coding	OTTHUMT00000255043.4	TTTC	NM_016836		161130982	-1	no_errors	ENST00000474820	ensembl	human	known	70_37	rna	DEL	0.121:0.138:0.129:0.057	-
RBP3	5949	genome.wustl.edu	37	10	48388081	48388081	+	Silent	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr10:48388081G>A	ENST00000224600.4	-	1	2910	c.2797C>T	c.(2797-2799)Ctg>Ttg	p.L933L	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	933	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TTGGCACGCAGAGCCACTATG	0.632																																																	0													54.0	52.0	52.0					10																	48388081		2203	4300	6503	SO:0001819	synonymous_variant	5949			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2797C>T	10.37:g.48388081G>A			Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.L933	ENST00000224600.4	37	c.2797	CCDS7218.1	10																																																																																			RBP3	-	NULL		0.632	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	G	NM_002900		48388081	-1	no_errors	ENST00000224600	ensembl	human	known	70_37	silent	SNP	0.997	A
RECQL	5965	genome.wustl.edu	37	12	21624448	21624448	+	Silent	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:21624448C>T	ENST00000444129.2	-	13	2049	c.1581G>A	c.(1579-1581)ctG>ctA	p.L527L	RECQL_ENST00000421138.2_Silent_p.L527L	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ helicase-like	527					DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)	membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						CTGCTACTCTCAGTTTTGCTG	0.423								Other identified genes with known or suspected DNA repair function																																									0													141.0	127.0	132.0					12																	21624448		2203	4300	6503	SO:0001819	synonymous_variant	5965			D37984	CCDS31756.1	12p12.1	2014-03-07	2014-03-07	2014-03-07	ENSG00000004700	ENSG00000004700			9948	protein-coding gene	gene with protein product	"""DNA helicase Q1-like"""	600537	"""RecQ protein-like (DNA helicase Q1-like)"""			7527136, 7961977	Standard	NM_002907		Approved	RecQ1, RecQL1	uc001rex.3	P46063	OTTHUMG00000169131	ENST00000444129.2:c.1581G>A	12.37:g.21624448C>T			A8K6G2	Silent	SNP	pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ	p.L527	ENST00000444129.2	37	c.1581	CCDS31756.1	12																																																																																			RECQL	-	pfam_RQC_domain,tigrfam_DNA_helicase_ATP-dep_RecQ		0.423	RECQL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RECQL	HGNC	protein_coding	OTTHUMT00000402371.1	C	NM_002907		21624448	-1	no_errors	ENST00000421138	ensembl	human	known	70_37	silent	SNP	0.040	T
RNF146	81847	genome.wustl.edu	37	6	127608557	127608557	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr6:127608557G>C	ENST00000368314.1	+	3	1223	c.799G>C	c.(799-801)Gaa>Caa	p.E267Q	RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000608991.1_Missense_Mutation_p.E266Q|ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000309649.3_Missense_Mutation_p.E266Q|RNF146_ENST00000610153.1_Missense_Mutation_p.E267Q	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	267					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GGGAGAAGGAGAAGAAGATCA	0.463																																																	0													169.0	157.0	161.0					6																	127608557		2203	4300	6503	SO:0001583	missense	81847			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.799G>C	6.37:g.127608557G>C	ENSP00000357297:p.Glu267Gln		E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING	p.E267Q	ENST00000368314.1	37	c.799	CCDS56449.1	6	.	.	.	.	.	.	.	.	.	.	G	18.19	3.569569	0.65765	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.30448	1.53;1.54;1.54	5.09	5.09	0.68999	.	0.052246	0.64402	D	0.000001	T	0.30510	0.0767	L	0.53249	1.67	0.53688	D	0.999976	P	0.47409	0.895	P	0.47044	0.535	T	0.09574	-1.0668	10	0.72032	D	0.01	-17.4935	18.69	0.91580	0.0:0.0:1.0:0.0	.	267	Q9NTX7	RN146_HUMAN	Q	267;266;266	ENSP00000357297:E267Q;ENSP00000349253:E266Q;ENSP00000309365:E266Q	ENSP00000309365:E266Q	E	+	1	0	RNF146	127650250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.683000	0.74533	2.666000	0.90696	0.655000	0.94253	GAA	RNF146	-	NULL		0.463	RNF146-001	KNOWN	basic|CCDS	protein_coding	RNF146	HGNC	protein_coding	OTTHUMT00000042112.1	G	NM_030963		127608557	+1	no_errors	ENST00000368314	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF220	55182	genome.wustl.edu	37	1	45115222	45115222	+	Intron	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:45115222G>C	ENST00000355387.2	+	13	1895				RNF220_ENST00000361799.2_Intron|RNF220_ENST00000372247.2_Intron|TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000443020.2_Intron|RNF220_ENST00000480686.1_Intron|TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron			Q5VTB9	RN220_HUMAN	ring finger protein 220						protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						ggcaggcagggatgcctaggg	0.493																																																	0																																										SO:0001627	intron_variant	55182			AK056424	CCDS510.1	1p34.1	2008-06-13	2008-06-13	2008-06-13	ENSG00000187147	ENSG00000187147		"""RING-type (C3HC4) zinc fingers"""	25552	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 164"""	C1orf164		11042152	Standard	NM_018150		Approved	FLJ10597	uc001clv.1	Q5VTB9	OTTHUMG00000007697	ENST00000355387.2:c.1446-111G>C	1.37:g.45115222G>C			B3KPJ3|B4DLZ9|E9PCS1|Q4KMX2|Q9NVP6	RNA	SNP	-	NULL	ENST00000355387.2	37	NULL	CCDS510.1	1																																																																																			RNF220	-	-		0.493	RNF220-001	KNOWN	basic|CCDS	protein_coding	RNF220	HGNC	protein_coding	OTTHUMT00000020683.4	G	NM_018150		45115222	+1	no_errors	ENST00000474956	ensembl	human	known	70_37	rna	SNP	0.001	C
RTL1	388015	genome.wustl.edu	37	14	101347453	101347453	+	Missense_Mutation	SNP	C	C	T	rs375169836		TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr14:101347453C>T	ENST00000534062.1	-	1	3731	c.3673G>A	c.(3673-3675)Gtt>Att	p.V1225I	MIR127_ENST00000384876.1_RNA|MIR431_ENST00000385266.1_RNA|MIR433_ENST00000384837.1_RNA	NM_001134888.2	NP_001128360.1	A6NKG5	RTL1_HUMAN	retrotransposon-like 1	1225					multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)		p.V1225I(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						TCATCACCAACGACGTGCAGC	0.612													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17662	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	skin(1)						C	ILE/VAL	1,3133		0,1,1566	18.0	18.0	18.0		3673	1.5	0.6	14		18	0,7160		0,0,3580	no	missense	RTL1	NM_001134888.2	29	0,1,5146	TT,TC,CC		0.0,0.0319,0.0097	possibly-damaging	1225/1359	101347453	1,10293	1567	3580	5147	SO:0001583	missense	388015				CCDS53910.1	14q32.2	2012-04-18			ENSG00000254656	ENSG00000254656			14665	protein-coding gene	gene with protein product		611896				16155747, 15854907, 12796779	Standard	NM_001134888		Approved	PEG11, MART1, Mar1	uc010txj.1	A6NKG5	OTTHUMG00000167573	ENST00000534062.1:c.3673G>A	14.37:g.101347453C>T	ENSP00000435342:p.Val1225Ile		E9PKS8	Missense_Mutation	SNP	pfam_Retrotrans_gag,superfamily_Peptidase_aspartic	p.V1225I	ENST00000534062.1	37	c.3673	CCDS53910.1	14	.	.	.	.	.	.	.	.	.	.	C	13.31	2.199505	0.38806	3.19E-4	0.0	ENSG00000254656	ENST00000534062	T	0.21932	1.98	3.33	1.49	0.22878	.	0.773939	0.10190	N	0.704726	T	0.13500	0.0327	L	0.27053	0.805	0.09310	N	1	B	0.21147	0.052	B	0.09377	0.004	T	0.26018	-1.0115	10	0.59425	D	0.04	.	5.5406	0.17036	0.0:0.7412:0.0:0.2588	.	1225	E9PKS8	.	I	1225	ENSP00000435342:V1225I	ENSP00000435342:V1225I	V	-	1	0	RTL1	100417206	0.823000	0.29233	0.565000	0.28409	0.988000	0.76386	0.357000	0.20199	0.416000	0.25844	0.655000	0.94253	GTT	RTL1	-	NULL		0.612	RTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTL1	HGNC	protein_coding	OTTHUMT00000395127.1	C	NM_001134888		101347453	-1	no_errors	ENST00000534062	ensembl	human	known	70_37	missense	SNP	0.211	T
SALL4	57167	genome.wustl.edu	37	20	50406888	50406888	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr20:50406888G>A	ENST00000217086.4	-	2	2245	c.2134C>T	c.(2134-2136)Ctt>Ttt	p.L712F	SALL4_ENST00000395997.3_Intron|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'Flank	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	712					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L712F(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGCTGGGAAGAGGCGTGGGG	0.587																																																	1	Substitution - Missense(1)	ovary(1)											40.0	38.0	39.0					20																	50406888		2203	4300	6503	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.2134C>T	20.37:g.50406888G>A	ENSP00000217086:p.Leu712Phe		A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L712F	ENST00000217086.4	37	c.2134	CCDS13438.1	20	.	.	.	.	.	.	.	.	.	.	G	0.070	-1.204892	0.01568	.	.	ENSG00000101115	ENST00000217086	T	0.09350	2.99	5.47	1.95	0.26073	.	0.382752	0.19354	N	0.116306	T	0.07143	0.0181	L	0.41415	1.275	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41088	-0.9528	10	0.11485	T	0.65	-10.0869	5.4989	0.16817	0.147:0.3991:0.4538:0.0	.	712	Q9UJQ4	SALL4_HUMAN	F	712	ENSP00000217086:L712F	ENSP00000217086:L712F	L	-	1	0	SALL4	49840295	0.005000	0.15991	0.014000	0.15608	0.002000	0.02628	1.647000	0.37260	0.621000	0.30232	-0.304000	0.09214	CTT	SALL4	-	NULL		0.587	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	HGNC	protein_coding	OTTHUMT00000079738.3	G			50406888	-1	no_errors	ENST00000217086	ensembl	human	known	70_37	missense	SNP	0.000	A
SEC16A	9919	genome.wustl.edu	37	9	139370924	139370924	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr9:139370924C>G	ENST00000371706.3	-	1	643	c.610G>C	c.(610-612)Gaa>Caa	p.E204Q	SEC16A_ENST00000431893.2_Missense_Mutation_p.E204Q|SEC16A_ENST00000313050.7_Missense_Mutation_p.E382Q|SEC16A_ENST00000290037.6_Missense_Mutation_p.E204Q			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	204					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCCTCATTTTCTGTCTCTCCC	0.592																																																	0													20.0	23.0	22.0					9																	139370924		1905	4124	6029	SO:0001583	missense	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.610G>C	9.37:g.139370924C>G	ENSP00000360771:p.Glu204Gln		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.E382Q	ENST00000371706.3	37	c.1144		9	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943636	0.92593	.	.	ENSG00000148396	ENST00000313050;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;T;T;T	0.38240	1.15;1.18;1.18;1.19	5.21	4.29	0.51040	.	0.060128	0.64402	D	0.000006	T	0.56031	0.1958	M	0.71581	2.175	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.995	D;D;D;P	0.68943	0.914;0.961;0.961;0.886	T	0.58891	-0.7556	10	0.66056	D	0.02	-26.437	12.6224	0.56610	0.0:0.9198:0.0:0.0802	.	382;204;204;9	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	Q	382;204;204;204;9	ENSP00000325827:E382Q;ENSP00000360771:E204Q;ENSP00000290037:E204Q;ENSP00000387583:E204Q	ENSP00000290037:E204Q	E	-	1	0	SEC16A	138490745	1.000000	0.71417	0.935000	0.37517	0.997000	0.91878	5.512000	0.67030	2.589000	0.87451	0.655000	0.94253	GAA	SEC16A	-	NULL		0.592	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	C	XM_088459		139370924	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	missense	SNP	1.000	G
SEC16A	9919	genome.wustl.edu	37	9	139371510	139371510	+	Silent	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr9:139371510C>T	ENST00000371706.3	-	1	57	c.24G>A	c.(22-24)ctG>ctA	p.L8L	SEC16A_ENST00000431893.2_Silent_p.L8L|SEC16A_ENST00000313050.7_Silent_p.L186L|SEC16A_ENST00000290037.6_Silent_p.L8L			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	8					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTTGCCTGCTCAGGGGTCGGT	0.607																																																	0													84.0	93.0	90.0					9																	139371510		2059	4183	6242	SO:0001819	synonymous_variant	9919			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.24G>A	9.37:g.139371510C>T			A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Silent	SNP	NULL	p.L186	ENST00000371706.3	37	c.558		9																																																																																			SEC16A	-	NULL		0.607	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1	C	XM_088459		139371510	-1	no_errors	ENST00000313050	ensembl	human	known	70_37	silent	SNP	0.001	T
SH3TC1	54436	genome.wustl.edu	37	4	8239286	8239286	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr4:8239286C>G	ENST00000245105.3	+	17	3709	c.3642C>G	c.(3640-3642)ttC>ttG	p.F1214L	SH3TC1_ENST00000539824.1_Missense_Mutation_p.F1138L	NM_018986.3	NP_061859	Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1214										NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGAGCACTTCTACCTCAAGG	0.637																																					NSCLC(145;2298 2623 35616 37297)												0													54.0	44.0	48.0					4																	8239286		2203	4300	6503	SO:0001583	missense	54436			AK074093	CCDS3399.1	4p16.1	2013-01-11			ENSG00000125089	ENSG00000125089		"""Tetratricopeptide (TTC) repeat domain containing"""	26009	protein-coding gene	gene with protein product							Standard	NM_018986		Approved	FLJ20356	uc003gkv.4	Q8TE82	OTTHUMG00000160934	ENST00000245105.3:c.3642C>G	4.37:g.8239286C>G	ENSP00000245105:p.Phe1214Leu		Q4W5G5	Missense_Mutation	SNP	superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.F1214L	ENST00000245105.3	37	c.3642	CCDS3399.1	4	.	.	.	.	.	.	.	.	.	.	C	15.70	2.910201	0.52439	.	.	ENSG00000125089	ENST00000245105;ENST00000539824;ENST00000535265	T;T	0.75260	-0.92;-0.73	4.32	2.37	0.29283	Tetratricopeptide-like helical (1);	0.074136	0.56097	D	0.000026	T	0.76350	0.3975	M	0.63428	1.95	0.37100	D	0.899865	P	0.44877	0.845	P	0.52881	0.712	T	0.75396	-0.3332	10	0.22109	T	0.4	-30.2639	10.7854	0.46403	0.0:0.7558:0.0:0.2442	.	1214	Q8TE82	S3TC1_HUMAN	L	1214;1138;1043	ENSP00000245105:F1214L;ENSP00000441045:F1138L	ENSP00000245105:F1214L	F	+	3	2	SH3TC1	8290186	0.999000	0.42202	1.000000	0.80357	0.897000	0.52465	0.640000	0.24705	1.040000	0.40099	0.555000	0.69702	TTC	SH3TC1	-	smart_TPR_repeat		0.637	SH3TC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SH3TC1	HGNC	protein_coding	OTTHUMT00000206991.2	C	NM_018986		8239286	+1	no_errors	ENST00000245105	ensembl	human	known	70_37	missense	SNP	1.000	G
SHMT1	6470	genome.wustl.edu	37	17	18250855	18250855	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr17:18250855C>A	ENST00000316694.3	-	5	608	c.474G>T	c.(472-474)aaG>aaT	p.K158N	SHMT1_ENST00000354098.3_Missense_Mutation_p.K158N|SHMT1_ENST00000352886.6_Missense_Mutation_p.K158N|SHMT1_ENST00000539052.1_Missense_Mutation_p.K20N	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	158					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|folic acid metabolic process (GO:0046655)|glycine biosynthetic process from serine (GO:0019264)|L-serine catabolic process (GO:0006565)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase biosynthetic process (GO:0009113)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	amino acid binding (GO:0016597)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|protein homodimerization activity (GO:0042803)|pyridoxal phosphate binding (GO:0030170)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Tetrahydrofolic acid(DB00116)	CAGAGATTTTCTTCTTGTCTG	0.512																																																	0													138.0	138.0	138.0					17																	18250855		2203	4300	6503	SO:0001583	missense	6470				CCDS11196.1, CCDS11197.1, CCDS62112.1	17p11.2	2010-04-23			ENSG00000176974	ENSG00000176974	2.1.2.1		10850	protein-coding gene	gene with protein product	"""cytoplasmic serine hydroxymethyltransferase"", ""14 kDa protein"""	182144				8505317	Standard	NM_004169		Approved	CSHMT, SHMT, MGC15229, MGC24556	uc002gta.3	P34896	OTTHUMG00000059094	ENST00000316694.3:c.474G>T	17.37:g.18250855C>A	ENSP00000318868:p.Lys158Asn		B4DPM9|D3DXD0|Q96HY0|Q9UMD1|Q9UMD2	Nonsense_Mutation	SNP	pfam_Ser_HO-MeTrfase,superfamily_PyrdxlP-dep_Trfase_major_dom,pfscan_Josephin	p.E120*	ENST00000316694.3	37	c.358	CCDS11196.1	17	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345991	0.82022	.	.	ENSG00000176974	ENST00000316694;ENST00000352886;ENST00000539052;ENST00000354098;ENST00000395685	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	5.28	4.31	0.51392	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.044381	0.85682	D	0.000000	T	0.74764	0.3759	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.76494	0.999;0.997;0.986;0.994	D;D;P;D	0.78314	0.991;0.991;0.81;0.984	T	0.82076	-0.0636	10	0.87932	D	0	-29.5096	14.2929	0.66292	0.0:0.9277:0.0:0.0723	.	158;158;158;158	B4DZB5;A8MYA6;P34896-2;P34896	.;.;.;GLYC_HUMAN	N	158;158;20;158;158	ENSP00000318868:K158N;ENSP00000345881:K158N;ENSP00000440089:K20N;ENSP00000318805:K158N	ENSP00000318868:K158N	K	-	3	2	SHMT1	18191580	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.873000	0.56093	1.352000	0.45808	0.462000	0.41574	AAG	SHMT1	-	pfscan_Josephin		0.512	SHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHMT1	HGNC	protein_coding	OTTHUMT00000130831.2	C	NM_004169		18250855	-1	no_errors	ENST00000580002	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SI	6476	genome.wustl.edu	37	3	164741481	164741481	+	Silent	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr3:164741481G>A	ENST00000264382.3	-	26	3038	c.2976C>T	c.(2974-2976)tcC>tcT	p.S992S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	992	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TTATACCCATGGATGAATAGC	0.413										HNSCC(35;0.089)																																							0													129.0	122.0	124.0					3																	164741481		2203	4300	6503	SO:0001819	synonymous_variant	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.2976C>T	3.37:g.164741481G>A			A2RUC3|Q1JQ80|Q1RMC2	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.S992	ENST00000264382.3	37	c.2976	CCDS3196.1	3																																																																																			SI	-	superfamily_Glyco_hydro-type_carb-bd		0.413	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	G	NM_001041		164741481	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	silent	SNP	0.015	A
SLC23A3	151295	genome.wustl.edu	37	2	220029972	220029972	+	Silent	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr2:220029972G>C	ENST00000409878.3	-	8	1118	c.1086C>G	c.(1084-1086)ggC>ggG	p.G362G	SLC23A3_ENST00000455516.2_Silent_p.G370G|SLC23A3_ENST00000295738.7_Intron|SLC23A3_ENST00000396775.3_Intron	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	362					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCAGCACACTGCCCAGCCCCT	0.657																																																	0													16.0	24.0	22.0					2																	220029972		689	1590	2279	SO:0001819	synonymous_variant	151295			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.1086C>G	2.37:g.220029972G>C			B7Z512|Q2PYN6|Q96NA6	Silent	SNP	pfam_Xant/urac/vitC	p.G370	ENST00000409878.3	37	c.1110	CCDS46518.1	2																																																																																			SLC23A3	-	pfam_Xant/urac/vitC		0.657	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC23A3	HGNC	protein_coding	OTTHUMT00000336331.2	G	NM_144712		220029972	-1	no_errors	ENST00000455516	ensembl	human	known	70_37	silent	SNP	1.000	C
SLC23A3	151295	genome.wustl.edu	37	2	220030095	220030095	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr2:220030095G>C	ENST00000409878.3	-	8	995	c.963C>G	c.(961-963)atC>atG	p.I321M	SLC23A3_ENST00000455516.2_Missense_Mutation_p.I329M|SLC23A3_ENST00000295738.7_Intron|SLC23A3_ENST00000396775.3_Intron	NM_001144889.1	NP_001138361.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	321					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGCCATGGAGATGCCTGCAG	0.622																																																	0													22.0	32.0	29.0					2																	220030095		692	1591	2283	SO:0001583	missense	151295			BC030243	CCDS42819.1, CCDS46517.1, CCDS46518.1	2q35	2013-07-18	2013-07-18		ENSG00000213901	ENSG00000213901		"""Solute carriers"""	20601	protein-coding gene	gene with protein product							Standard	NM_144712		Approved	SVCT3, FLJ31168, Yspl1	uc010zkr.2	Q6PIS1	OTTHUMG00000154616	ENST00000409878.3:c.963C>G	2.37:g.220030095G>C	ENSP00000386473:p.Ile321Met		B7Z512|Q2PYN6|Q96NA6	Missense_Mutation	SNP	pfam_Xant/urac/vitC	p.I329M	ENST00000409878.3	37	c.987	CCDS46518.1	2	.	.	.	.	.	.	.	.	.	.	G	15.86	2.956851	0.53293	.	.	ENSG00000213901	ENST00000409878;ENST00000455516	T;T	0.18338	2.22;2.22	5.31	0.979	0.19745	.	.	.	.	.	T	0.27663	0.0680	L	0.43152	1.355	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.64410	0.925;0.925	T	0.00847	-1.1542	8	.	.	.	.	11.5928	0.50955	0.3143:0.0:0.6857:0.0	.	321;329	Q6PIS1;B7Z512	S23A3_HUMAN;.	M	321;329	ENSP00000386473:I321M;ENSP00000406546:I329M	.	I	-	3	3	SLC23A3	219738339	0.973000	0.33851	1.000000	0.80357	0.998000	0.95712	-0.058000	0.11750	0.247000	0.21414	0.655000	0.94253	ATC	SLC23A3	-	pfam_Xant/urac/vitC		0.622	SLC23A3-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SLC23A3	HGNC	protein_coding	OTTHUMT00000336331.2	G	NM_144712		220030095	-1	no_errors	ENST00000455516	ensembl	human	known	70_37	missense	SNP	0.993	C
SLC35G2	80723	genome.wustl.edu	37	3	136573486	136573486	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr3:136573486delA	ENST00000446465.2	+	2	812	c.184delA	c.(184-186)aaafs	p.K64fs	RP11-85F14.5_ENST00000461864.1_RNA|SLC35G2_ENST00000393079.3_Frame_Shift_Del_p.K64fs|RP11-85F14.5_ENST00000474250.1_RNA|RP11-85F14.5_ENST00000470236.1_RNA	NM_025246.2	NP_079522.2			solute carrier family 35, member G2																		GAGTGAAATGAAAAAAAAAGG	0.413																																																	0													88.0	99.0	95.0					3																	136573486		2203	4300	6503	SO:0001589	frameshift_variant	80723			BC022557	CCDS3091.1	3q22.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000168917	ENSG00000168917		"""Solute carriers"""	28480	protein-coding gene	gene with protein product			"""transmembrane protein 22"""	TMEM22		11230166	Standard	NM_001097600		Approved	MGC3295, DKFZp564K2464	uc003erf.4	Q8TBE7	OTTHUMG00000159787	ENST00000446465.2:c.184delA	3.37:g.136573486delA	ENSP00000400839:p.Lys64fs			Frame_Shift_Del	DEL	pfam_DMT	p.66fs	ENST00000446465.2	37	c.184	CCDS3091.1	3																																																																																			SLC35G2	-	NULL		0.413	SLC35G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G2	HGNC	protein_coding	OTTHUMT00000357317.1	A	NM_025246		136573486	+1	no_errors	ENST00000393079	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
SNHG14	104472715	genome.wustl.edu	37	15	25442572	25442572	+	RNA	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr15:25442572G>A	ENST00000424208.1	+	0	1548				SNORD115-14_ENST00000363090.1_RNA|SNORD115-15_ENST00000364809.1_RNA|SNHG14_ENST00000424333.1_RNA|SNORD115-16_ENST00000363887.1_RNA|SNHG14_ENST00000456576.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		CACTGGCCCCGGGAAAATGTC	0.597																																																	0																																												0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25442572G>A				RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNHG14	-	-		0.597	SNHG14-002	KNOWN	basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126729.2	G			25442572	+1	no_errors	ENST00000424208	ensembl	human	known	70_37	rna	SNP	0.000	A
SNX27	81609	genome.wustl.edu	37	1	151641005	151641005	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:151641005C>T	ENST00000458013.2	+	7	1163	c.1043C>T	c.(1042-1044)tCa>tTa	p.S348L	SNX27_ENST00000368838.1_Missense_Mutation_p.S255L|SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000368843.3_Missense_Mutation_p.S348L			Q96L92	SNX27_HUMAN	sorting nexin family member 27	348	FERM-like region F1.|Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|establishment of natural killer cell polarity (GO:0001770)|intracellular protein transport (GO:0006886)|retrograde transport, endosome to plasma membrane (GO:1990126)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|immunological synapse (GO:0001772)|nucleus (GO:0005634)	phosphatidylinositol-3-phosphate binding (GO:0032266)			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AATTATACATCAGCTGTGCCA	0.378																																					Colon(46;291 966 40145 41237 41888)												0													116.0	115.0	115.0					1																	151641005		2203	4300	6503	SO:0001583	missense	81609			AB007957	CCDS1001.1	1q21.3	2008-03-11			ENSG00000143376	ENSG00000143376		"""Sorting nexins"""	20073	protein-coding gene	gene with protein product		611541				12461558	Standard	XM_005245509		Approved	MY014, KIAA0488, MGC20471	uc001eyn.1	Q96L92	OTTHUMG00000013052	ENST00000458013.2:c.1043C>T	1.37:g.151641005C>T	ENSP00000400333:p.Ser348Leu		Q32Q36|Q4AEJ5|Q5VWB0|Q5VWB1|Q5VWB2|Q6IPP6|Q86UB1|Q96D79|Q9H3K8	Missense_Mutation	SNP	pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc	p.S348L	ENST00000458013.2	37	c.1043		1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188166	0.78789	.	.	ENSG00000143376	ENST00000458013;ENST00000368843;ENST00000368838	T;T;T	0.18016	2.24;2.24;2.24	5.1	5.1	0.69264	Ras-association (2);	0.000000	0.85682	D	0.000000	T	0.09598	0.0236	L	0.41961	1.31	0.80722	D	1	P;P	0.41008	0.619;0.735	B;B	0.40506	0.331;0.209	T	0.13575	-1.0504	10	0.19147	T	0.46	.	17.2485	0.87035	0.0:1.0:0.0:0.0	.	348;348	Q96L92;Q96L92-3	SNX27_HUMAN;.	L	348;348;255	ENSP00000400333:S348L;ENSP00000357836:S348L;ENSP00000357831:S255L	ENSP00000357831:S255L	S	+	2	0	SNX27	149907629	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.044000	0.76578	2.656000	0.90262	0.305000	0.20034	TCA	SNX27	-	pfam_Ras-assoc,pfscan_Ras-assoc		0.378	SNX27-003	NOVEL	basic	protein_coding	SNX27	HGNC	protein_coding	OTTHUMT00000036624.3	C	NM_030918		151641005	+1	no_errors	ENST00000368843	ensembl	human	known	70_37	missense	SNP	1.000	T
SOCS3	9021	genome.wustl.edu	37	17	76354877	76354878	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr17:76354877_76354878insC	ENST00000330871.2	-	2	714_715	c.299_300insG	c.(298-300)ggcfs	p.G100fs	RP11-806H10.4_ENST00000592569.1_lincRNA	NM_003955.3	NP_003946.3	O14543	SOCS3_HUMAN	suppressor of cytokine signaling 3	100	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				branching involved in labyrinthine layer morphogenesis (GO:0060670)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein kinase activity (GO:0006469)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|spongiotrophoblast differentiation (GO:0060708)|trophoblast giant cell differentiation (GO:0060707)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)	protein kinase inhibitor activity (GO:0004860)			kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)	6			BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554)			GAGAGAAGCTGCCCCCCTCACA	0.649																																																	0																																										SO:0001589	frameshift_variant	9021			AB004904	CCDS11756.1	17q25.3	2014-09-17						"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19391	protein-coding gene	gene with protein product		604176				9266833, 9344848	Standard	NM_003955		Approved	SSI-3, CIS3, SOCS-3, Cish3	uc002jvl.2	O14543		ENST00000330871.2:c.300dupG	17.37:g.76354883_76354883dupC	ENSP00000330341:p.Gly100fs		O14509	Frame_Shift_Ins	INS	pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.S101fs	ENST00000330871.2	37	c.300_299	CCDS11756.1	17																																																																																			SOCS3	-	pfam_SH2,smart_SH2,pfscan_SH2		0.649	SOCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS3	HGNC	protein_coding	OTTHUMT00000437300.1	-			76354878	-1	no_errors	ENST00000330871	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C
SPATA16	83893	genome.wustl.edu	37	3	172634172	172634172	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr3:172634172G>C	ENST00000351008.3	-	9	1621	c.1438C>G	c.(1438-1440)Caa>Gaa	p.Q480E		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	480					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)				breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			GCCATTGCTTGATTAATCACC	0.478																																																	0													234.0	217.0	223.0					3																	172634172		2203	4300	6503	SO:0001583	missense	83893			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1438C>G	3.37:g.172634172G>C	ENSP00000341765:p.Gln480Glu		Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Missense_Mutation	SNP	NULL	p.Q480E	ENST00000351008.3	37	c.1438	CCDS3221.1	3	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858978	0.51376	.	.	ENSG00000144962	ENST00000351008	T	0.20881	2.04	6.17	6.17	0.99709	.	0.083454	0.52532	D	0.000069	T	0.35307	0.0927	L	0.32530	0.975	0.38023	D	0.9349	D	0.58620	0.983	P	0.57720	0.826	T	0.04103	-1.0977	10	0.72032	D	0.01	-6.913	20.8794	0.99867	0.0:0.0:1.0:0.0	.	480	Q9BXB7	SPT16_HUMAN	E	480	ENSP00000341765:Q480E	ENSP00000341765:Q480E	Q	-	1	0	SPATA16	174116866	1.000000	0.71417	1.000000	0.80357	0.577000	0.36160	7.057000	0.76669	2.941000	0.99782	0.655000	0.94253	CAA	SPATA16	-	NULL		0.478	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA16	HGNC	protein_coding	OTTHUMT00000346322.1	G	NM_031955		172634172	-1	no_errors	ENST00000351008	ensembl	human	known	70_37	missense	SNP	1.000	C
SPATA31A6	389730	genome.wustl.edu	37	9	43627712	43627712	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr9:43627712C>G	ENST00000332857.6	-	4	1003	c.975G>C	c.(973-975)caG>caC	p.Q325H	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	325					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											CCACGACATTCTGGCCATCAG	0.463																																																	0													1.0	1.0	1.0					9																	43627712		20	79	99	SO:0001583	missense	389730				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.975G>C	9.37:g.43627712C>G	ENSP00000329825:p.Gln325His			Missense_Mutation	SNP	NULL	p.Q325H	ENST00000332857.6	37	c.975	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	C	11.26	1.586628	0.28268	.	.	ENSG00000185775	ENST00000332857	T	0.04234	3.67	1.91	0.992	0.19819	.	0.803069	0.10381	N	0.681510	T	0.15176	0.0366	M	0.69523	2.12	0.09310	N	1	D	0.89917	1.0	D	0.87578	0.998	T	0.15521	-1.0434	10	0.42905	T	0.14	-1.6603	4.2476	0.10679	0.0:0.7911:0.0:0.2089	.	325	Q5VVP1	F75A6_HUMAN	H	325	ENSP00000329825:Q325H	ENSP00000329825:Q325H	Q	-	3	2	FAM75A6	43567708	0.169000	0.23002	0.022000	0.16811	0.008000	0.06430	0.646000	0.24797	0.370000	0.24538	0.449000	0.29647	CAG	SPATA31A6	-	NULL		0.463	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	HGNC	protein_coding	OTTHUMT00000036987.1	C	NM_001145196		43627712	-1	no_errors	ENST00000332857	ensembl	human	known	70_37	missense	SNP	0.028	G
SPG11	80208	genome.wustl.edu	37	15	44864782	44864783	+	Intron	DNP	GA	GA	CT			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr15:44864782_44864783GA>CT	ENST00000261866.7	-	33	6360				SPG11_ENST00000427534.2_Intron|SPG11_ENST00000535302.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)						cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TAGGCATCCAGAGCAGGAACAG	0.411																																																	0																																										SO:0001627	intron_variant	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.6344_6344delinsCT	15.37:g.44864782_44864783delinsCT			A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	RNA	SNP	-	NULL	ENST00000261866.7	37	NULL	CCDS10112.1	15																																																																																			SPG11	-	-		0.411	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	G|A			44864782|44864783	-1	no_errors	ENST00000559347	ensembl	human	known	70_37	rna	SNP	0.793|0.813	C|T
STAC2	342667	genome.wustl.edu	37	17	37371404	37371404	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr17:37371404G>T	ENST00000333461.5	-	5	1035	c.666C>A	c.(664-666)ttC>ttA	p.F222L		NM_198993.3	NP_945344.1	Q6ZMT1	STAC2_HUMAN	SH3 and cysteine rich domain 2	222					intracellular signal transduction (GO:0035556)		metal ion binding (GO:0046872)			NS(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(2)	17						AGGTGCTGCTGAAACTGGAGC	0.607																																																	0													118.0	111.0	114.0					17																	37371404		2203	4300	6503	SO:0001583	missense	342667			AJ608762	CCDS11335.1	17q21.2	2012-11-19			ENSG00000141750	ENSG00000141750			23990	protein-coding gene	gene with protein product							Standard	NM_198993		Approved	24b2	uc002hrs.3	Q6ZMT1	OTTHUMG00000179039	ENST00000333461.5:c.666C>A	17.37:g.37371404G>T	ENSP00000327509:p.Phe222Leu		Q32MA3	Missense_Mutation	SNP	pfam_SH3_2,pfam_SH3_domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_SH3_domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_SH3_domain,prints_p67phox	p.F222L	ENST00000333461.5	37	c.666	CCDS11335.1	17	.	.	.	.	.	.	.	.	.	.	g	10.21	1.288553	0.23478	.	.	ENSG00000141750	ENST00000333461	T	0.79653	-1.29	4.94	4.94	0.65067	.	0.124327	0.53938	N	0.000042	T	0.71517	0.3349	L	0.43152	1.355	0.38981	D	0.958949	B	0.06786	0.001	B	0.04013	0.001	T	0.66889	-0.5809	10	0.23302	T	0.38	-2.3169	10.5854	0.45280	0.0909:0.0:0.9091:0.0	.	222	Q6ZMT1	STAC2_HUMAN	L	222	ENSP00000327509:F222L	ENSP00000327509:F222L	F	-	3	2	STAC2	34624930	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.362000	0.52314	2.279000	0.76181	0.511000	0.50034	TTC	STAC2	-	NULL		0.607	STAC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAC2	HGNC	protein_coding	OTTHUMT00000444533.2	G	NM_198993		37371404	-1	no_errors	ENST00000333461	ensembl	human	known	70_37	missense	SNP	1.000	T
STYXL1	51657	genome.wustl.edu	37	7	75633094	75633094	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr7:75633094G>T	ENST00000248600.1	-	7	1021	c.679C>A	c.(679-681)Cac>Aac	p.H227N	STYXL1_ENST00000431581.1_Missense_Mutation_p.H227N|STYXL1_ENST00000359697.3_Missense_Mutation_p.H227N|STYXL1_ENST00000451157.1_Missense_Mutation_p.H227N|STYXL1_ENST00000340062.5_Missense_Mutation_p.H131N|STYXL1_ENST00000360591.3_3'UTR	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	227	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						TGACACATGTGGCGTAAGAAG	0.547																																																	0													137.0	103.0	114.0					7																	75633094		2203	4300	6503	SO:0001583	missense	51657			AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.679C>A	7.37:g.75633094G>T	ENSP00000248600:p.His227Asn		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat	p.H227N	ENST00000248600.1	37	c.679	CCDS5580.1	7	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457408	0.26161	.	.	ENSG00000127952	ENST00000248600;ENST00000359697;ENST00000340062;ENST00000404050;ENST00000431581;ENST00000454618;ENST00000451157	T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51	3.74	3.74	0.42951	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.424608	0.23787	N	0.044571	T	0.32971	0.0847	L	0.42245	1.32	0.80722	D	1	P;P;P;P;P;B	0.47762	0.799;0.737;0.9;0.763;0.473;0.147	B;B;P;B;B;B	0.48400	0.234;0.422;0.576;0.229;0.158;0.281	T	0.07966	-1.0745	10	0.59425	D	0.04	-21.8648	11.3505	0.49585	0.0:0.0:1.0:0.0	.	227;227;227;131;227;131	Q9Y6J8-3;C9J4H0;Q9Y6J8-2;Q9Y6J8-4;Q9Y6J8;Q7Z3H6	.;.;.;.;STYL1_HUMAN;.	N	227;227;131;227;227;182;227	ENSP00000248600:H227N;ENSP00000352726:H227N;ENSP00000343383:H131N;ENSP00000392221:H227N;ENSP00000406073:H182N;ENSP00000411812:H227N	ENSP00000248600:H227N	H	-	1	0	STYXL1	75471030	0.511000	0.26179	0.969000	0.41365	0.288000	0.27193	1.494000	0.35616	2.397000	0.81536	0.563000	0.77884	CAC	STYXL1	-	pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Dual-sp_phosphatase_subgr_cat		0.547	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	STYXL1	HGNC	protein_coding	OTTHUMT00000344825.1	G	NM_016086		75633094	-1	no_errors	ENST00000248600	ensembl	human	known	70_37	missense	SNP	0.969	T
SVIL	6840	genome.wustl.edu	37	10	29822309	29822309	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr10:29822309C>G	ENST00000355867.4	-	8	1739	c.987G>C	c.(985-987)caG>caC	p.Q329H	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000375398.2_Missense_Mutation_p.Q329H	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	329					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGTGTCTCCTCTGAGTTACGG	0.483																																																	0													84.0	73.0	77.0					10																	29822309		2203	4300	6503	SO:0001583	missense	6840			AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.987G>C	10.37:g.29822309C>G	ENSP00000348128:p.Gln329His		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece	p.Q329H	ENST00000355867.4	37	c.987	CCDS7164.1	10	.	.	.	.	.	.	.	.	.	.	C	11.95	1.792971	0.31685	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.49720	0.77;0.77	5.85	3.96	0.45880	.	0.366667	0.28653	N	0.014589	T	0.41834	0.1176	M	0.67953	2.075	0.80722	D	1	B	0.11235	0.004	B	0.10450	0.005	T	0.24297	-1.0164	9	.	.	.	-21.1368	6.5726	0.22547	0.0:0.6627:0.1321:0.2052	.	329	O95425	SVIL_HUMAN	H	329	ENSP00000364547:Q329H;ENSP00000348128:Q329H	.	Q	-	3	2	SVIL	29862315	1.000000	0.71417	1.000000	0.80357	0.660000	0.38997	0.550000	0.23345	0.775000	0.33450	0.655000	0.94253	CAG	SVIL	-	NULL		0.483	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SVIL	HGNC	protein_coding	OTTHUMT00000047395.1	C			29822309	-1	no_errors	ENST00000355867	ensembl	human	known	70_37	missense	SNP	1.000	G
SYDE1	85360	genome.wustl.edu	37	19	15224540	15224540	+	Silent	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:15224540C>T	ENST00000342784.2	+	8	2005	c.1974C>T	c.(1972-1974)tgC>tgT	p.C658C	SYDE1_ENST00000600440.1_Silent_p.C591C|SYDE1_ENST00000600252.1_Silent_p.C315C	NM_033025.4	NP_149014.3	Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	658					activation of Rho GTPase activity (GO:0032862)|positive regulation of synaptic transmission (GO:0050806)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptonemal complex assembly (GO:0007130)	cerebellar mossy fiber (GO:0044300)|cytosol (GO:0005829)|synaptic membrane (GO:0097060)	Rho GTPase activator activity (GO:0005100)			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GGAGCGTTTGCGGGCGGGACT	0.706																																																	0													51.0	61.0	58.0					19																	15224540		2203	4299	6502	SO:0001819	synonymous_variant	85360			BC029926	CCDS12324.1, CCDS74299.1	19p13.12	2008-02-05				ENSG00000105137			25824	protein-coding gene	gene with protein product						12477932	Standard	XM_005260126		Approved	7h3, FLJ13511	uc002nah.1	Q6ZW31		ENST00000342784.2:c.1974C>T	19.37:g.15224540C>T			Q7L2I8|Q8N6J2|Q9H8K4	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.C658	ENST00000342784.2	37	c.1974	CCDS12324.1	19																																																																																			SYDE1	-	NULL		0.706	SYDE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE1	HGNC	protein_coding	OTTHUMT00000465666.1	C	NM_033025		15224540	+1	no_errors	ENST00000342784	ensembl	human	known	70_37	silent	SNP	1.000	T
SYTL2	54843	genome.wustl.edu	37	11	85438776	85438776	+	Intron	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr11:85438776G>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.P99L|SYTL2_ENST00000525423.1_5'UTR|SYTL2_ENST00000354566.3_5'Flank|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TATTCCTCGGGGATGTTGGAG	0.378																																																	0																																										SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+162C>T	11.37:g.85438776G>A			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.P99L	ENST00000528231.1	37	c.296	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	0.193	-1.051687	0.01981	.	.	ENSG00000137501	ENST00000359152	T	0.27890	1.64	5.87	-2.84	0.05751	.	0.451871	0.19056	N	0.123912	T	0.17831	0.0428	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.19778	-1.0295	6	.	.	.	4.3551	4.6944	0.12797	0.4453:0.0:0.3202:0.2345	.	.	.	.	L	99	ENSP00000352065:P99L	.	P	-	2	0	SYTL2	85116424	0.001000	0.12720	0.001000	0.08648	0.042000	0.13812	0.577000	0.23758	-0.365000	0.08076	-0.137000	0.14449	CCC	SYTL2	-	NULL		0.378	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85438776	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	missense	SNP	0.000	A
HYI	81888	genome.wustl.edu	37	1	43914344	43914344	+	IGR	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:43914344G>A	ENST00000372425.4	-	0	1115				SZT2_ENST00000562955.1_Missense_Mutation_p.R3287H|SZT2-AS1_ENST00000396885.2_RNA|SZT2_ENST00000372442.1_Missense_Mutation_p.R2445H			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)								hydroxypyruvate isomerase activity (GO:0008903)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCCTAAGCCGCTTCCCCCAG	0.542																																																	0													183.0	191.0	188.0					1																	43914344		2203	4300	6503	SO:0001628	intergenic_variant	23334				CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"""hydroxypyruvate isomerase homolog (E. coli)"""			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502		1.37:g.43914344G>A			D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Missense_Mutation	SNP	NULL	p.R3287H	ENST00000372425.4	37	c.9860	CCDS53309.1	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.051030	0.75960	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.43	5.43	0.79202	.	0.048762	0.85682	D	0.000000	T	0.75708	0.3886	L	0.46157	1.445	0.38008	D	0.934432	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	T	0.78773	-0.2073	9	0.72032	D	0.01	.	19.5857	0.95489	0.0:0.0:1.0:0.0	.	3344;3287	Q5T011;Q5T011-5	SZT2_HUMAN;.	H	2445	.	ENSP00000361519:R2445H	R	+	2	0	SZT2	43686931	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.592000	0.98245	2.696000	0.92011	0.591000	0.81541	CGC	SZT2	-	NULL		0.542	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SZT2	HGNC	protein_coding		G	NM_031207		43914344	+1	no_errors	ENST00000562955	ensembl	human	known	70_37	missense	SNP	1.000	A
T	6862	genome.wustl.edu	37	6	166580885	166580885	+	Silent	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr6:166580885G>C	ENST00000296946.2	-	2	663	c.195C>G	c.(193-195)acC>acG	p.T65T	T_ENST00000366871.3_Silent_p.T65T	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	65					anterior/posterior axis specification, embryo (GO:0008595)|BMP signaling pathway (GO:0030509)|bone morphogenesis (GO:0060349)|canonical Wnt signaling pathway (GO:0060070)|determination of heart left/right asymmetry (GO:0061371)|embryonic skeletal system development (GO:0048706)|heart morphogenesis (GO:0003007)|mesoderm development (GO:0007498)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate morphogenesis (GO:0001839)|neural tube closure (GO:0001843)|notochord formation (GO:0014028)|penetration of zona pellucida (GO:0007341)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|signal transduction (GO:0007165)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		TGCCGTTCTTGGTCACGATCA	0.692									Chordoma, Familial Clustering of																																								0													47.0	38.0	41.0					6																	166580885		2203	4300	6503	SO:0001819	synonymous_variant	6862	Familial Cancer Database		AJ001699	CCDS5290.1, CCDS59045.1	6q27	2011-06-13	2001-11-28		ENSG00000164458	ENSG00000164458		"""T-boxes"""	11515	protein-coding gene	gene with protein product		601397	"""T brachyury (mouse) homolog"""			8963900	Standard	NM_003181		Approved		uc003quu.2	O15178	OTTHUMG00000015991	ENST00000296946.2:c.195C>G	6.37:g.166580885G>C			E7ERD6|Q4KMP4	Silent	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_Brachyury,prints_TF_T-box	p.T65	ENST00000296946.2	37	c.195	CCDS5290.1	6																																																																																			T	-	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box		0.692	T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	T	HGNC	protein_coding	OTTHUMT00000043037.2	G	NM_003181		166580885	-1	no_errors	ENST00000296946	ensembl	human	known	70_37	silent	SNP	1.000	C
TAF1	6872	genome.wustl.edu	37	X	70683738	70683738	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chrX:70683738G>A	ENST00000373790.4	+	38	5512	c.5461G>A	c.(5461-5463)Ggt>Agt	p.G1821S	TAF1_ENST00000276072.3_Missense_Mutation_p.G1842S|TAF1_ENST00000461764.1_Intron|TAF1_ENST00000449580.1_Missense_Mutation_p.G1855S|TAF1_ENST00000423759.1_Missense_Mutation_p.G1844S	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1821	Asp/Glu-rich (acidic tail).|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAGCAGCATCGGTGGGTATGA	0.542																																																	0													94.0	65.0	75.0					X																	70683738		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.5461G>A	X.37:g.70683738G>A	ENSP00000362895:p.Gly1821Ser		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.G1855S	ENST00000373790.4	37	c.5563	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	g	21.1	4.102254	0.76983	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.09630	2.96;2.97;3.01;2.96	4.74	4.74	0.60224	.	0.050938	0.85682	D	0.000000	T	0.10594	0.0259	N	0.22421	0.69	0.49687	D	0.999816	D;D;D	0.60160	0.976;0.977;0.987	B;B;P	0.45681	0.302;0.296;0.49	T	0.25676	-1.0125	10	0.27082	T	0.32	.	16.9803	0.86325	0.0:0.0:1.0:0.0	.	1855;1821;1842	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	S	1821;1855;1844;1842	ENSP00000362895:G1821S;ENSP00000389000:G1855S;ENSP00000406549:G1844S;ENSP00000276072:G1842S	ENSP00000276072:G1842S	G	+	1	0	TAF1	70600463	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.857000	0.75455	2.187000	0.69744	0.287000	0.19450	GGT	TAF1	-	pirsf_TAF1_animal		0.542	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	G	NM_004606		70683738	+1	no_errors	ENST00000449580	ensembl	human	known	70_37	missense	SNP	1.000	A
TANK	10010	genome.wustl.edu	37	2	162087928	162087928	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr2:162087928C>G	ENST00000392749.2	+	7	1206	c.967C>G	c.(967-969)Ctg>Gtg	p.L323V	TANK_ENST00000406287.1_Intron|TANK_ENST00000405852.1_Missense_Mutation_p.L323V|TANK_ENST00000259075.2_Missense_Mutation_p.L323V|AC009299.2_ENST00000421122.2_RNA|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000402568.1_Intron	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	323					I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	metal ion binding (GO:0046872)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CAGGACAACTCTGGATAGAGC	0.428																																																	0													88.0	86.0	87.0					2																	162087928		2203	4300	6503	SO:0001583	missense	10010			U59863	CCDS2215.1, CCDS46436.1	2q24-q31	2008-02-05			ENSG00000136560	ENSG00000136560			11562	protein-coding gene	gene with protein product		603893		TRAF2		8710854, 8855313	Standard	NM_004180		Approved	I-TRAF	uc002ubr.2	Q92844	OTTHUMG00000132037	ENST00000392749.2:c.967C>G	2.37:g.162087928C>G	ENSP00000376505:p.Leu323Val		D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	NULL	p.L323V	ENST00000392749.2	37	c.967	CCDS2215.1	2	.	.	.	.	.	.	.	.	.	.	C	2.373	-0.343826	0.05208	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000405852;ENST00000437623;ENST00000439442	T;T;T;T;T	0.31769	1.92;1.92;1.48;1.48;1.87	5.21	3.32	0.38043	.	0.766138	0.11815	N	0.526825	T	0.25419	0.0618	L	0.40543	1.245	0.45005	D	0.998028	B	0.02656	0.0	B	0.04013	0.001	T	0.02829	-1.1105	10	0.23302	T	0.38	0.8514	11.3151	0.49388	0.0:0.5538:0.3774:0.0688	.	323	Q92844	TANK_HUMAN	V	323;323;323;214;78	ENSP00000259075:L323V;ENSP00000376505:L323V;ENSP00000385487:L323V;ENSP00000412556:L214V;ENSP00000387439:L78V	ENSP00000259075:L323V	L	+	1	2	TANK	161796174	0.867000	0.29959	0.972000	0.41901	0.971000	0.66376	1.641000	0.37197	0.619000	0.30197	0.591000	0.81541	CTG	TANK	-	NULL		0.428	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TANK	HGNC	protein_coding	OTTHUMT00000324232.1	C	NM_133484		162087928	+1	no_errors	ENST00000259075	ensembl	human	known	70_37	missense	SNP	0.721	G
TAS2R38	5726	genome.wustl.edu	37	7	141672740	141672740	+	Silent	SNP	G	G	T	rs575623439		TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr7:141672740G>T	ENST00000547270.1	-	1	833	c.750C>A	c.(748-750)gtC>gtA	p.V250V		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	250					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGAAAAAGGAGACAAGAGACT	0.502																																																	0													58.0	58.0	58.0					7																	141672740		2203	4300	6503	SO:0001819	synonymous_variant	5726			AF494231	CCDS34765.1	7q34	2012-10-03	2003-05-29	2003-05-30	ENSG00000257138	ENSG00000257138		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	9584	protein-coding gene	gene with protein product		607751	"""phenylthiocarbamide tasting"""	PTC		12624758, 12584440	Standard	NM_176817		Approved	T2R61	uc003vwx.1	P59533	OTTHUMG00000158374	ENST00000547270.1:c.750C>A	7.37:g.141672740G>T			A4D1U6|P59552|Q2M3E8|Q645W3|Q86UK3	Silent	SNP	pfam_TAS2_rcpt	p.V250	ENST00000547270.1	37	c.750	CCDS34765.1	7																																																																																			TAS2R38	-	pfam_TAS2_rcpt		0.502	TAS2R38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R38	HGNC	protein_coding	OTTHUMT00000350810.2	G	NM_176817		141672740	-1	no_errors	ENST00000547270	ensembl	human	known	70_37	silent	SNP	0.217	T
TBC1D23	55773	genome.wustl.edu	37	3	100039736	100039736	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr3:100039736delA	ENST00000394144.4	+	18	1946	c.1939delA	c.(1939-1941)aaafs	p.K649fs	TBC1D23_ENST00000344949.5_Frame_Shift_Del_p.K634fs|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Frame_Shift_Del_p.K512fs	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	649					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.?(2)|p.H650fs*3(1)|p.H635fs*3(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AATTACATCCAAAAAAAAACA	0.353																																																	4	Unknown(2)|Insertion - Frameshift(2)	large_intestine(2)|skin(2)											72.0	73.0	73.0					3																	100039736		2203	4300	6503	SO:0001589	frameshift_variant	55773			AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1939delA	3.37:g.100039736delA	ENSP00000377700:p.Lys649fs		B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Frame_Shift_Del	DEL	pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom	p.K649fs	ENST00000394144.4	37	c.1939	CCDS56265.1	3																																																																																			TBC1D23	-	NULL		0.353	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	TBC1D23	HGNC	protein_coding	OTTHUMT00000353150.1	A	NM_018309		100039736	+1	no_errors	ENST00000394144	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
TEX14	56155	genome.wustl.edu	37	17	56650643	56650643	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr17:56650643G>C	ENST00000240361.8	-	24	3633	c.3548C>G	c.(3547-3549)tCt>tGt	p.S1183C	TEX14_ENST00000389934.3_Missense_Mutation_p.S1177C|TEX14_ENST00000349033.5_Missense_Mutation_p.S1137C			Q8IWB6	TEX14_HUMAN	testis expressed 14	1183					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GGAGATACTAGACAGGTCTTG	0.398																																																	0													230.0	224.0	226.0					17																	56650643		2203	4300	6503	SO:0001583	missense	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.3548C>G	17.37:g.56650643G>C	ENSP00000240361:p.Ser1183Cys		A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.S1183C	ENST00000240361.8	37	c.3548	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875957	0.72180	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.27402	1.67;1.67;1.67	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000003	T	0.45736	0.1357	L	0.36672	1.1	0.34703	D	0.726909	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.71184	0.938;0.969;0.972	T	0.56848	-0.7911	10	0.87932	D	0	-14.9578	15.2584	0.73603	0.0:0.0:1.0:0.0	.	1183;1137;1177	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	C	1183;1177;1137	ENSP00000240361:S1183C;ENSP00000374584:S1177C;ENSP00000268910:S1137C	ENSP00000240361:S1183C	S	-	2	0	TEX14	54005642	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.535000	0.67173	2.673000	0.90976	0.555000	0.69702	TCT	TEX14	-	NULL		0.398	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	HGNC	protein_coding	OTTHUMT00000445446.1	G			56650643	-1	no_errors	ENST00000240361	ensembl	human	known	70_37	missense	SNP	1.000	C
TGM2	7052	genome.wustl.edu	37	20	36789841	36789841	+	Silent	SNP	G	G	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr20:36789841G>T	ENST00000361475.2	-	2	344	c.171C>A	c.(169-171)ctC>ctA	p.L57L	TGM2_ENST00000536701.1_Silent_p.L57L|TGM2_ENST00000536724.1_Intron	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	57					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CACTGAAGGTGAGACTGTCTA	0.637																																																	0													74.0	55.0	61.0					20																	36789841		2203	4300	6503	SO:0001819	synonymous_variant	7052			M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.171C>A	20.37:g.36789841G>T			E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.L57	ENST00000361475.2	37	c.171	CCDS13302.1	20																																																																																			TGM2	-	pfam_Transglutaminase_N,superfamily_Ig_E-set		0.637	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM2	HGNC	protein_coding	OTTHUMT00000079151.2	G	NM_198951		36789841	-1	no_errors	ENST00000361475	ensembl	human	known	70_37	silent	SNP	0.906	T
THADA	63892	genome.wustl.edu	37	2	43571336	43571336	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr2:43571336C>T	ENST00000405006.4	-	30	4619	c.4268G>A	c.(4267-4269)gGa>gAa	p.G1423E	THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Missense_Mutation_p.G1423E|THADA_ENST00000415080.2_Missense_Mutation_p.G1104E|THADA_ENST00000485353.1_5'UTR	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1423										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TGAATTCGTTCCGTGTTTGGA	0.398																																																	0													82.0	75.0	77.0					2																	43571336		1918	4133	6051	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.4268G>A	2.37:g.43571336C>T	ENSP00000385995:p.Gly1423Glu		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.G1423E	ENST00000405006.4	37	c.4268	CCDS46268.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.434|9.434	1.086352|1.086352	0.20390|0.20390	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|T;T;T	.|0.10668	.|3.02;2.85;3.02	4.8|4.8	3.92|3.92	0.45320|0.45320	.|.	.|0.650983	.|0.15484	.|N	.|0.259956	T|T	0.04363|0.04363	0.0120|0.0120	N|N	0.14661|0.14661	0.345|0.345	0.19300|0.19300	N|N	0.999979|0.999979	.|B;B;B	.|0.22604	.|0.072;0.002;0.001	.|B;B;B	.|0.18871	.|0.023;0.005;0.004	T|T	0.43360|0.43360	-0.9396|-0.9396	5|10	.|0.02654	.|T	.|1	-14.185|-14.185	3.3021|3.3021	0.06987|0.06987	0.3142:0.4499:0.1519:0.0839|0.3142:0.4499:0.1519:0.0839	.|.	.|1350;1104;1423	.|B6ZDQ0;C9JJB1;Q6YHU6	.|.;.;THADA_HUMAN	K|E	663|1423;1350;1104;1423	.|ENSP00000386088:G1423E;ENSP00000416048:G1104E;ENSP00000385995:G1423E	.|ENSP00000349464:G1350E	E|G	-|-	1|2	0|0	THADA|THADA	43424840|43424840	0.955000|0.955000	0.32602|0.32602	0.960000|0.960000	0.40013|0.40013	0.903000|0.903000	0.53119|0.53119	0.331000|0.331000	0.19733|0.19733	1.231000|1.231000	0.43661|0.43661	0.585000|0.585000	0.79938|0.79938	GAA|GGA	THADA	-	NULL		0.398	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	C	NM_022065		43571336	-1	no_errors	ENST00000405006	ensembl	human	known	70_37	missense	SNP	0.932	T
TIMM8A	1678	genome.wustl.edu	37	X	100603704	100603704	+	5'UTR	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chrX:100603704C>T	ENST00000372902.3	-	0	480				TIMM8A_ENST00000480575.1_5'UTR	NM_004085.3	NP_004076.1	O60220	TIM8A_HUMAN	translocase of inner mitochondrial membrane 8 homolog A (yeast)						cellular protein metabolic process (GO:0044267)|chaperone-mediated protein transport (GO:0072321)|nervous system development (GO:0007399)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)			endometrium(1)|lung(1)	2						CTTCACGTGTCTCCGCGACGG	0.677																																																	0													32.0	25.0	27.0					X																	100603704		1327	2309	3636	SO:0001623	5_prime_UTR_variant	1678			U66035	CCDS14481.1	Xq22	2008-02-05	2001-11-28		ENSG00000126953	ENSG00000126953			11817	protein-coding gene	gene with protein product		300356	"""translocase of inner mitochondrial membrane 8 (yeast) homolog A"""	DFN1		10552927, 8841189	Standard	NM_004085		Approved	DDP, MTS	uc004ehd.2	O60220	OTTHUMG00000022028	ENST00000372902.3:c.-52G>A	X.37:g.100603704C>T			B2R5A6|Q6IRW6	RNA	SNP	-	NULL	ENST00000372902.3	37	NULL	CCDS14481.1	X																																																																																			TIMM8A	-	-		0.677	TIMM8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM8A	HGNC	protein_coding	OTTHUMT00000057554.1	C	NM_004085		100603704	-1	no_errors	ENST00000480575	ensembl	human	known	70_37	rna	SNP	0.978	T
TP63	8626	genome.wustl.edu	37	3	189612142	189612142	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr3:189612142G>T	ENST00000264731.3	+	14	1983	c.1894G>T	c.(1894-1896)Gag>Tag	p.E632*	TP63_ENST00000456148.1_Nonsense_Mutation_p.E534*|TP63_ENST00000449992.1_Nonsense_Mutation_p.E453*|TP63_ENST00000382063.4_Nonsense_Mutation_p.E547*|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000440651.2_Nonsense_Mutation_p.E628*|TP63_ENST00000354600.5_Nonsense_Mutation_p.E538*	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	632	Transactivation inhibition.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GGGCTCCAGTGAGACCCGGGG	0.572										HNSCC(45;0.13)																																							0													119.0	113.0	115.0					3																	189612142		2203	4300	6503	SO:0001587	stop_gained	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1894G>T	3.37:g.189612142G>T	ENSP00000264731:p.Glu632*		O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Nonsense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.E632*	ENST00000264731.3	37	c.1894	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	G	37	6.575697	0.97676	.	.	ENSG00000073282	ENST00000264731;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000449992;ENST00000456148	.	.	.	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-21.1227	19.2671	0.93993	0.0:0.0:1.0:0.0	.	.	.	.	X	632;628;547;538;453;534	.	.	E	+	1	0	TP63	191094836	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	9.176000	0.94839	2.788000	0.95919	0.650000	0.86243	GAG	TP63	-	NULL		0.572	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	G	NM_003722		189612142	+1	no_errors	ENST00000264731	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TPRX1	284355	genome.wustl.edu	37	19	48305209	48305209	+	Silent	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:48305209G>A	ENST00000322175.3	-	2	1214	c.1059C>T	c.(1057-1059)ttC>ttT	p.F353F	TPRX1_ENST00000535759.1_Silent_p.F450F|TPRX1_ENST00000543508.1_Silent_p.F343F	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	353						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		GCAGCTCTGTGAAGTGAGGGA	0.572																																					Esophageal Squamous(123;175 2281 3051 32395)												0													99.0	101.0	100.0					19																	48305209		2203	4300	6503	SO:0001819	synonymous_variant	284355				CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.1059C>T	19.37:g.48305209G>A			A5D8Y3|B2RPL5	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.F450	ENST00000322175.3	37	c.1350	CCDS33066.1	19																																																																																			TPRX1	-	NULL		0.572	TPRX1-001	KNOWN	basic|CCDS	protein_coding	TPRX1	HGNC	protein_coding	OTTHUMT00000409868.1	G	NM_198479		48305209	-1	no_errors	ENST00000535759	ensembl	human	known	70_37	silent	SNP	0.002	A
TRAF2	7186	genome.wustl.edu	37	9	139818343	139818343	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr9:139818343G>A	ENST00000247668.2	+	10	1230	c.1178G>A	c.(1177-1179)cGt>cAt	p.R393H	TRAF2_ENST00000536468.1_Missense_Mutation_p.R393H|TRAF2_ENST00000359662.3_Missense_Mutation_p.R445H	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	393	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		ATGTGTCTGCGTATCTACCTG	0.627																																																	0													103.0	82.0	89.0					9																	139818343		2203	4300	6503	SO:0001583	missense	7186			U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1178G>A	9.37:g.139818343G>A	ENSP00000247668:p.Arg393His		A8K107|B4DPJ7|Q7Z337|Q96NT2	Missense_Mutation	SNP	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.R445H	ENST00000247668.2	37	c.1334	CCDS7013.1	9	.	.	.	.	.	.	.	.	.	.	G	34	5.362446	0.95877	.	.	ENSG00000127191	ENST00000536468;ENST00000432785;ENST00000247668;ENST00000359662;ENST00000371645	T;T;T	0.50001	0.76;0.76;0.76	4.69	4.69	0.59074	TRAF-type (1);TRAF-like (1);MATH (3);	0.113624	0.64402	D	0.000015	T	0.76111	0.3942	M	0.93197	3.39	0.80722	D	1	D;D;D	0.89917	0.997;0.997;1.0	P;P;D	0.67231	0.83;0.83;0.95	D	0.83835	0.0254	10	0.87932	D	0	-36.5572	17.7887	0.88546	0.0:0.0:1.0:0.0	.	382;368;393	Q12933-3;Q12933-4;Q12933	.;.;TRAF2_HUMAN	H	393;392;393;445;314	ENSP00000446414:R393H;ENSP00000247668:R393H;ENSP00000352685:R445H	ENSP00000247668:R393H	R	+	2	0	TRAF2	138938164	1.000000	0.71417	0.997000	0.53966	0.947000	0.59692	9.554000	0.98121	2.453000	0.82957	0.561000	0.74099	CGT	TRAF2	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH		0.627	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF2	HGNC	protein_coding	OTTHUMT00000055166.1	G	NM_021138		139818343	+1	no_errors	ENST00000359662	ensembl	human	known	70_37	missense	SNP	1.000	A
TRAPPC4	51399	genome.wustl.edu	37	11	118895677	118895677	+	IGR	SNP	G	G	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr11:118895677G>T	ENST00000533632.1	+	0	1759				SLC37A4_ENST00000330775.7_Missense_Mutation_p.F432L|SLC37A4_ENST00000357590.5_Missense_Mutation_p.F433L|SLC37A4_ENST00000538950.1_Missense_Mutation_p.F338L|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.R231I|SLC37A4_ENST00000545985.1_Missense_Mutation_p.F411L|SLC37A4_ENST00000525102.1_5'UTR	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4						dendrite development (GO:0016358)|ER to Golgi vesicle-mediated transport (GO:0006888)|extracellular matrix organization (GO:0030198)	cis-Golgi network (GO:0005801)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi stack (GO:0005795)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)|TRAPP complex (GO:0030008)				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GTAGGAGGAAGAAGGCAGCCG	0.592																																																	0													45.0	52.0	50.0					11																	118895677		2017	4175	6192	SO:0001628	intergenic_variant	51399			AF078862	CCDS8407.1	11q23.3	2011-10-10				ENSG00000196655		"""Trafficking protein particle complex"""	19943	protein-coding gene	gene with protein product		610971				10810093	Standard	NM_016146		Approved	TRS23, SBDN, PTD009	uc010ryo.2	Q9Y296			11.37:g.118895677G>T			A8K3A5|B4DME1	Missense_Mutation	SNP	pfam_Sybindin,pfam_Sedlin,superfamily_Longin-like_dom	p.R231I	ENST00000533632.1	37	c.692	CCDS8407.1	11	.	.	.	.	.	.	.	.	.	.	G	14.44	2.536110	0.45176	.	.	ENSG00000196655	ENST00000533058	T	0.51817	0.69	5.27	5.27	0.74061	.	.	.	.	.	T	0.51160	0.1658	L	0.41079	1.255	0.39313	D	0.9651	.	.	.	.	.	.	T	0.54642	-0.8263	7	0.87932	D	0	-24.2247	12.4044	0.55430	0.076:0.0:0.924:0.0	.	.	.	.	I	231	ENSP00000432920:R231I	ENSP00000432920:R231I	R	+	2	0	TRAPPC4	118400887	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.955000	0.70306	2.758000	0.94735	0.561000	0.74099	AGA	TRAPPC4	-	NULL		0.592	TRAPPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAPPC4	HGNC	protein_coding	OTTHUMT00000389332.1	G	NM_016146		118895677	+1	no_errors	ENST00000533058	ensembl	human	putative	70_37	missense	SNP	1.000	T
TRPM4	54795	genome.wustl.edu	37	19	49713652	49713652	+	Silent	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:49713652C>T	ENST00000252826.5	+	21	3444	c.3318C>T	c.(3316-3318)ctC>ctT	p.L1106L	TRPM4_ENST00000355712.5_Silent_p.L752L|TRPM4_ENST00000427978.2_Silent_p.L961L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1106	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCCCGGCCCTCGAGCATTTCC	0.622																																																	0													19.0	23.0	22.0					19																	49713652		2200	4293	6493	SO:0001819	synonymous_variant	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3318C>T	19.37:g.49713652C>T			A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	pfam_Ion_trans_dom	p.L1106	ENST00000252826.5	37	c.3318	CCDS33073.1	19																																																																																			TRPM4	-	NULL		0.622	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	C	NM_017636		49713652	+1	no_errors	ENST00000252826	ensembl	human	known	70_37	silent	SNP	0.000	T
TSC2	7249	genome.wustl.edu	37	16	2111884	2111884	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr16:2111884C>A	ENST00000219476.3	+	12	1762	c.1132C>A	c.(1132-1134)Ccg>Acg	p.P378T	TSC2_ENST00000439673.2_Missense_Mutation_p.P341T|TSC2_ENST00000353929.4_Missense_Mutation_p.P378T|TSC2_ENST00000382538.6_Missense_Mutation_p.P329T|TSC2_ENST00000401874.2_Missense_Mutation_p.P378T|TSC2_ENST00000350773.4_Missense_Mutation_p.P378T|TSC2_ENST00000568454.1_Missense_Mutation_p.P389T	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	378	Required for interaction with TSC1.		P -> L (in dbSNP:rs45517154).		acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CTTGGACAGCCCGGAGCTCAG	0.587			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													110.0	94.0	100.0					16																	2111884		2198	4300	6498	SO:0001583	missense	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1132C>A	16.37:g.2111884C>A	ENSP00000219476:p.Pro378Thr		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.P378T	ENST00000219476.3	37	c.1132	CCDS10458.1	16	.	.	.	.	.	.	.	.	.	.	.	10.80	1.452758	0.26074	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28;-1.28	5.29	4.34	0.51931	Armadillo-like helical (1);Armadillo-type fold (1);Tuberin, N-terminal (1);	0.243810	0.42682	D	0.000670	T	0.74152	0.3679	L	0.29908	0.895	0.38359	D	0.944564	B;B;B;B;B;B	0.21225	0.036;0.002;0.014;0.029;0.029;0.053	B;B;B;B;B;B	0.32928	0.155;0.025;0.039;0.138;0.075;0.082	T	0.72697	-0.4215	10	0.46703	T	0.11	-19.2659	13.633	0.62206	0.0:0.9251:0.0:0.0749	.	329;341;378;378;378;378	B4DIL8;P49815-6;P49815-4;P49815-3;P49815-5;P49815	.;.;.;.;.;TSC2_HUMAN	T	378;378;378;341;329;378	ENSP00000219476:P378T;ENSP00000384468:P378T;ENSP00000248099:P378T;ENSP00000399232:P341T;ENSP00000371978:P329T;ENSP00000344383:P378T	ENSP00000219476:P378T	P	+	1	0	TSC2	2051885	1.000000	0.71417	0.992000	0.48379	0.062000	0.15995	3.621000	0.54210	1.229000	0.43630	0.561000	0.74099	CCG	TSC2	-	pfam_Tuberin_N,superfamily_ARM-type_fold		0.587	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	C	NM_000548		2111884	+1	no_errors	ENST00000219476	ensembl	human	known	70_37	missense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179399219	179399219	+	Silent	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr2:179399219C>T	ENST00000591111.1	-	308	97424	c.97200G>A	c.(97198-97200)gaG>gaA	p.E32400E	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.E25168E|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.E25101E|TTN_ENST00000460472.2_Silent_p.E24976E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Silent_p.E34041E|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342992.6_Silent_p.E31473E|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589434.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			CAATGCTAATCTCTTTGAATG	0.428																																																	0													129.0	129.0	129.0					2																	179399219		1929	4124	6053	SO:0001819	synonymous_variant	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.97200G>A	2.37:g.179399219C>T			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	Silent	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.E31473	ENST00000591111.1	37	c.94419		2																																																																																			TTN	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179399219	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.887	T
UHRF1BP1	54887	genome.wustl.edu	37	6	34831951	34831951	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr6:34831951A>T	ENST00000192788.5	+	15	3559	c.3388A>T	c.(3388-3390)Agc>Tgc	p.S1130C	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S1130C	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1130							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGGCAGTGATAGCTTTGTGAT	0.507																																																	0													137.0	140.0	139.0					6																	34831951		2075	4219	6294	SO:0001583	missense	54887			AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3388A>T	6.37:g.34831951A>T	ENSP00000192788:p.Ser1130Cys		Q9NXE0	Missense_Mutation	SNP	NULL	p.S1130C	ENST00000192788.5	37	c.3388	CCDS43455.1	6	.	.	.	.	.	.	.	.	.	.	A	18.61	3.660620	0.67586	.	.	ENSG00000065060	ENST00000192788;ENST00000452449	T;T	0.09817	2.94;2.94	6.04	1.18	0.20946	.	0.484691	0.26180	N	0.025880	T	0.04952	0.0133	L	0.50333	1.59	0.20638	N	0.999875	D	0.53151	0.958	P	0.45712	0.491	T	0.22382	-1.0218	10	0.72032	D	0.01	-1.5168	8.2786	0.31887	0.4581:0.0:0.5419:0.0	.	1130	Q6BDS2	URFB1_HUMAN	C	1130	ENSP00000192788:S1130C;ENSP00000400628:S1130C	ENSP00000192788:S1130C	S	+	1	0	UHRF1BP1	34939929	0.985000	0.35326	0.537000	0.28052	0.994000	0.84299	2.038000	0.41184	0.188000	0.20168	0.459000	0.35465	AGC	UHRF1BP1	-	NULL		0.507	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1	HGNC	protein_coding	OTTHUMT00000040260.1	A	NM_017754		34831951	+1	no_errors	ENST00000192788	ensembl	human	known	70_37	missense	SNP	0.307	T
UMODL1	89766	genome.wustl.edu	37	21	43531075	43531075	+	Silent	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr21:43531075C>T	ENST00000408910.2	+	11	1743	c.1743C>T	c.(1741-1743)ctC>ctT	p.L581L	C21orf128_ENST00000329015.2_5'Flank|UMODL1_ENST00000400427.1_Silent_p.L509L|UMODL1_ENST00000400424.2_Silent_p.L509L|UMODL1_ENST00000408989.2_Silent_p.L581L	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	581					adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAGCAGCCCTCGGCCTAGAGA	0.657																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0													30.0	38.0	35.0					21																	43531075		2042	4186	6228	SO:0001819	synonymous_variant	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1743C>T	21.37:g.43531075C>T			C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	pfam_ZP_dom,pfam_SEA,pfam_EGF-like_Ca-bd,pfam_EMI_domain,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_EGF-like_Ca-bd,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom	p.L581	ENST00000408910.2	37	c.1743	CCDS42936.1	21																																																																																			UMODL1	-	NULL		0.657	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UMODL1	HGNC	protein_coding	OTTHUMT00000195292.2	C			43531075	+1	no_errors	ENST00000408989	ensembl	human	known	70_37	silent	SNP	0.000	T
UNC13C	440279	genome.wustl.edu	37	15	54817750	54817750	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr15:54817750G>C	ENST00000260323.11	+	24	5461	c.5461G>C	c.(5461-5463)Gat>Cat	p.D1821H	UNC13C_ENST00000545554.1_Missense_Mutation_p.D1821H|UNC13C_ENST00000537900.1_Missense_Mutation_p.D1819H	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1821					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TCTGCAGCTAGATTCTGAAGC	0.393																																																	0													80.0	77.0	78.0					15																	54817750		1863	4113	5976	SO:0001583	missense	440279			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.5461G>C	15.37:g.54817750G>C	ENSP00000260323:p.Asp1821His		Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.D1821H	ENST00000260323.11	37	c.5461	CCDS45264.1	15	.	.	.	.	.	.	.	.	.	.	G	23.7	4.442965	0.83993	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.20738	2.05;2.05;2.05	5.89	5.89	0.94794	.	0.099961	0.64402	D	0.000003	T	0.47451	0.1446	M	0.76838	2.35	0.58432	D	0.999992	D	0.71674	0.998	P	0.60789	0.879	T	0.41197	-0.9522	10	0.59425	D	0.04	.	19.2409	0.93883	0.0:0.0:1.0:0.0	.	1821	Q8NB66	UN13C_HUMAN	H	1821;1821;1819	ENSP00000260323:D1821H;ENSP00000438156:D1821H;ENSP00000442569:D1819H	ENSP00000260323:D1821H	D	+	1	0	UNC13C	52605042	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.202000	0.89737	2.788000	0.95919	0.557000	0.71058	GAT	UNC13C	-	NULL		0.393	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	G	NM_173166		54817750	+1	no_errors	ENST00000260323	ensembl	human	known	70_37	missense	SNP	1.000	C
VPS72	6944	genome.wustl.edu	37	1	151150622	151150622	+	Splice_Site	SNP	C	C	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:151150622C>T	ENST00000354473.4	-	5	599		c.e5-1		TMOD4_ENST00000416280.2_5'Flank|VPS72_ENST00000496809.1_Splice_Site|TMOD4_ENST00000601585.1_5'Flank			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)						chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCATATGTCTCTTTAGGGTCA	0.468																																					Pancreas(109;1131 2287 3209 24201)												0													56.0	54.0	55.0					1																	151150622		2203	4300	6503	SO:0001630	splice_region_variant	6944			D43642	CCDS989.1, CCDS59201.1	1q21	2008-02-05	2006-12-19	2005-09-08	ENSG00000163159	ENSG00000163159			11644	protein-coding gene	gene with protein product		600607	"""transcription factor-like 1"", ""vacuolar protein sorting 72 (yeast)"""	TCFL1		7702631	Standard	NM_001271087		Approved	YL-1, YL1, Swc2	uc001exe.2	Q15906	OTTHUMG00000012345	ENST00000354473.4:c.563-1G>A	1.37:g.151150622C>T			A6NLK9|A6PW55|Q53GJ2|Q5U0R4	Splice_Site	SNP	-	e5-1	ENST00000354473.4	37	c.563-1	CCDS59201.1	1	.	.	.	.	.	.	.	.	.	.	c	25.1	4.599192	0.87055	.	.	ENSG00000163159	ENST00000368892;ENST00000354473	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.2195	0.73299	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS72	149417246	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.188000	0.77739	2.616000	0.88540	0.655000	0.94253	.	VPS72	-	-		0.468	VPS72-002	NOVEL	mRNA_start_NF|basic|exp_conf|CCDS	protein_coding	VPS72	HGNC	protein_coding	OTTHUMT00000034394.3	C	NM_005997	Intron	151150622	-1	no_errors	ENST00000368892	ensembl	human	known	70_37	splice_site	SNP	1.000	T
WDR66	144406	genome.wustl.edu	37	12	122359395	122359397	+	In_Frame_Del	DEL	GGG	GGG	-	rs142042908|rs200386901|rs386767074|rs58098972|rs58415126|rs71082910|rs377641095|rs142971083		TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	GGG	GGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:122359395_122359397delGGG	ENST00000288912.4	+	2	1038_1040	c.184_186delGGG	c.(184-186)gggdel	p.G62del	WDR66_ENST00000397454.2_In_Frame_Del_p.G62del	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	62	Glu-rich.			G -> GEEEEK (in Ref. 2; AAH28421/ AAH36233). {ECO:0000305}.			calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		cgaggaggaaggggaggaggagg	0.458																																					Esophageal Squamous(85;849 1794 49757 52143)												0																																										SO:0001651	inframe_deletion	144406			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.184_186delGGG	12.37:g.122359395_122359397delGGG	ENSP00000288912:p.Gly62del		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	In_Frame_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.G62in_frame_del	ENST00000288912.4	37	c.184_186	CCDS41853.1	12																																																																																			WDR66	-	NULL		0.458	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	GGG	NM_144668		122359397	+1	no_errors	ENST00000288912	ensembl	human	known	70_37	in_frame_del	DEL	0.000:0.000:0.000	-
WIPF2	147179	genome.wustl.edu	37	17	38421118	38421118	+	Silent	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr17:38421118C>G	ENST00000323571.4	+	5	930	c.690C>G	c.(688-690)gtC>gtG	p.V230V	WIPF2_ENST00000585043.1_Silent_p.V230V|WIPF2_ENST00000583130.1_Silent_p.V230V|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Intron	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	230					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						CACCCCCAGTCAAACCACCTC	0.617										HNSCC(43;0.11)																																							0													151.0	134.0	140.0					17																	38421118		2203	4300	6503	SO:0001819	synonymous_variant	147179			BC025965	CCDS11364.1	17q21.2	2006-10-12			ENSG00000171475	ENSG00000171475			30923	protein-coding gene	gene with protein product		609692				12213210, 11829459	Standard	XM_005257083		Approved	WICH, WIRE	uc002hug.1	Q8TF74	OTTHUMG00000133331	ENST00000323571.4:c.690C>G	17.37:g.38421118C>G			A8K0L3|Q658J8|Q71RE1|Q8TE44	Silent	SNP	smart_WH2_dom,pfscan_WH2_dom	p.V230	ENST00000323571.4	37	c.690	CCDS11364.1	17																																																																																			WIPF2	-	NULL		0.617	WIPF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WIPF2	HGNC	protein_coding	OTTHUMT00000257157.2	C	NM_133264		38421118	+1	no_errors	ENST00000323571	ensembl	human	known	70_37	silent	SNP	0.065	G
XKR3	150165	genome.wustl.edu	37	22	17265193	17265193	+	Silent	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr22:17265193C>G	ENST00000331428.5	-	4	798	c.696G>C	c.(694-696)ccG>ccC	p.P232P		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	232			P -> L (in dbSNP:rs9605146). {ECO:0000269|PubMed:14702039}.			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGAATTCTATCGGCGGTAGCT	0.433																																																	0													35.0	34.0	34.0					22																	17265193		1517	3540	5057	SO:0001819	synonymous_variant	150165			AY989815	CCDS42975.1	22q11.1	2007-01-16	2006-01-12		ENSG00000172967	ENSG00000172967			28778	protein-coding gene	gene with protein product		611674	"""X Kell blood group precursor-related family, member 3"""			16431037	Standard	NM_175878		Approved	MGC57211, XTES	uc002zlv.3	Q5GH77	OTTHUMG00000143726	ENST00000331428.5:c.696G>C	22.37:g.17265193C>G			B2RPN1|Q52PG8|Q8N7E1	Silent	SNP	pfam_Transport_prot_XK	p.P232	ENST00000331428.5	37	c.696	CCDS42975.1	22																																																																																			XKR3	-	pfam_Transport_prot_XK		0.433	XKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR3	HGNC	protein_coding	OTTHUMT00000289789.1	C	NM_175878		17265193	-1	no_errors	ENST00000331428	ensembl	human	known	70_37	silent	SNP	0.006	G
XKR9	389668	genome.wustl.edu	37	8	71593475	71593475	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr8:71593475C>A	ENST00000408926.3	+	3	716	c.182C>A	c.(181-183)tCt>tAt	p.S61Y	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Missense_Mutation_p.S61Y	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	61						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTTAGTTATTCTTGGTTCAAG	0.378																																																	0													246.0	245.0	245.0					8																	71593475		2203	4300	6503	SO:0001583	missense	389668			AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.182C>A	8.37:g.71593475C>A	ENSP00000386141:p.Ser61Tyr		B2RNS9|B9EH74	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.S61Y	ENST00000408926.3	37	c.182	CCDS34905.1	8	.	.	.	.	.	.	.	.	.	.	C	9.475	1.096648	0.20552	.	.	ENSG00000221947	ENST00000408926;ENST00000520030;ENST00000519350	T;T;T	0.63580	-0.05;-0.05;-0.05	5.31	4.41	0.53225	.	0.415783	0.25654	N	0.029193	T	0.55210	0.1906	L	0.51422	1.61	0.28174	N	0.928462	D	0.55800	0.973	P	0.50825	0.651	T	0.53436	-0.8439	10	0.02654	T	1	-18.6022	7.4416	0.27187	0.1689:0.7414:0.0:0.0897	.	61	Q5GH70	XKR9_HUMAN	Y	61	ENSP00000386141:S61Y;ENSP00000431088:S61Y;ENSP00000428904:S61Y	ENSP00000386141:S61Y	S	+	2	0	XKR9	71756029	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	1.465000	0.35299	2.627000	0.88993	0.585000	0.79938	TCT	XKR9	-	pfam_Transport_prot_XK		0.378	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR9	HGNC	protein_coding	OTTHUMT00000378752.1	C	NM_001011720		71593475	+1	no_errors	ENST00000408926	ensembl	human	known	70_37	missense	SNP	1.000	A
YARS2	51067	genome.wustl.edu	37	12	32906904	32906904	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr12:32906904G>C	ENST00000324868.8	-	2	922	c.895C>G	c.(895-897)Cca>Gca	p.P299A		NM_001040436.2	NP_001035526.1	Q9Y2Z4	SYYM_HUMAN	tyrosyl-tRNA synthetase 2, mitochondrial	299					gene expression (GO:0010467)|mitochondrial tyrosyl-tRNA aminoacylation (GO:0070184)|translation (GO:0006412)|tRNA aminoacylation (GO:0043039)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|tRNA binding (GO:0000049)|tyrosine binding (GO:0072545)|tyrosine-tRNA ligase activity (GO:0004831)			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	AATTCAAATGGAGATGTCTTA	0.418																																																	0													150.0	138.0	142.0					12																	32906904		2203	4300	6503	SO:0001583	missense	51067			AF132939	CCDS31770.1	12p11.21	2014-03-19	2007-02-23		ENSG00000139131	ENSG00000139131	6.1.1.1	"""Aminoacyl tRNA synthetases / Class I"""	24249	protein-coding gene	gene with protein product	"""tyrosine tRNA ligase 2, mitochondrial"""	610957				15779907, 15840810	Standard	NM_001040436		Approved	FLJ13995, CGI-04, mt-TyrRS	uc001rli.3	Q9Y2Z4	OTTHUMG00000169454	ENST00000324868.8:c.895C>G	12.37:g.32906904G>C	ENSP00000320658:p.Pro299Ala		D3DUW8|Q9H817	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase	p.P299A	ENST00000324868.8	37	c.895	CCDS31770.1	12	.	.	.	.	.	.	.	.	.	.	G	23.7	4.444912	0.83993	.	.	ENSG00000139131	ENST00000324868	T	0.52057	0.68	5.33	5.33	0.75918	.	0.063690	0.64402	D	0.000005	T	0.54464	0.1860	M	0.64997	1.995	0.80722	D	1	D	0.55385	0.971	P	0.47251	0.542	T	0.60485	-0.7254	10	0.72032	D	0.01	-24.4349	17.637	0.88125	0.0:0.0:1.0:0.0	.	299	Q9Y2Z4	SYYM_HUMAN	A	299	ENSP00000320658:P299A	ENSP00000320658:P299A	P	-	1	0	YARS2	32798171	1.000000	0.71417	0.986000	0.45419	0.960000	0.62799	6.375000	0.73137	2.673000	0.90976	0.650000	0.86243	CCA	YARS2	-	pfam_aa-tRNA-synth_Ic,tigrfam_Tyr-tRNA-ligase		0.418	YARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YARS2	HGNC	protein_coding	OTTHUMT00000404153.1	G	NM_015936		32906904	-1	no_errors	ENST00000324868	ensembl	human	known	70_37	missense	SNP	1.000	C
ZC3H11A	9877	genome.wustl.edu	37	1	203771246	203771246	+	5'UTR	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr1:203771246C>G	ENST00000545588.1	+	0	2784				ZC3H11A_ENST00000367212.3_Intron|ZC3H11A_ENST00000367214.1_Intron|ZC3H11A_ENST00000466470.1_3'UTR|ZC3H11A_ENST00000332127.4_Intron	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A						poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTCTGCCTTCTACAGCTTGC	0.363																																																	0																																										SO:0001623	5_prime_UTR_variant	9877				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.-1044C>G	1.37:g.203771246C>G			Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	RNA	SNP	-	NULL	ENST00000545588.1	37	NULL	CCDS30978.1	1																																																																																			ZC3H11A	-	-		0.363	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	C	NM_014827		203771246	+1	no_errors	ENST00000461980	ensembl	human	known	70_37	rna	SNP	1.000	G
ZNF134	7693	genome.wustl.edu	37	19	58132365	58132365	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:58132365G>T	ENST00000396161.5	+	3	1188	c.878G>T	c.(877-879)tGt>tTt	p.C293F		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	293					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)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGCAGTGATTGTGGGAAAGTC	0.398																																																	0													107.0	110.0	109.0					19																	58132365		2200	4299	6499	SO:0001583	missense	7693			U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.878G>T	19.37:g.58132365G>T	ENSP00000379464:p.Cys293Phe		Q9Y4B2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.C293F	ENST00000396161.5	37	c.878	CCDS42638.1	19	.	.	.	.	.	.	.	.	.	.	G	18.70	3.680254	0.68042	.	.	ENSG00000213762	ENST00000418193;ENST00000541849;ENST00000396161	D	0.85861	-2.04	4.45	3.38	0.38709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.94341	0.8181	H	0.97732	4.065	0.41191	D	0.986302	D	0.89917	1.0	D	0.69654	0.965	D	0.95409	0.8496	9	0.87932	D	0	.	12.0686	0.53603	0.0884:0.0:0.9116:0.0	.	293	P52741	ZN134_HUMAN	F	360;213;293	ENSP00000379464:C293F	ENSP00000379464:C293F	C	+	2	0	ZNF134	62824177	1.000000	0.71417	0.976000	0.42696	0.988000	0.76386	6.992000	0.76238	1.186000	0.42985	0.561000	0.74099	TGT	ZNF134	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF134	HGNC	protein_coding	OTTHUMT00000466808.1	G	NM_003435		58132365	+1	no_errors	ENST00000396161	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF34	80778	genome.wustl.edu	37	8	145998848	145998848	+	Silent	SNP	G	G	A			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr8:145998848G>A	ENST00000343459.4	-	6	1551	c.1486C>T	c.(1486-1488)Ctg>Ttg	p.L496L	ZNF34_ENST00000429371.2_Silent_p.L475L			Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CCGTGGTGCAGCCTCTGGTGG	0.557																																																	0													122.0	120.0	120.0					8																	145998848		2203	4300	6503	SO:0001819	synonymous_variant	80778			BC028136	CCDS47945.1, CCDS69562.1	8q24	2013-01-08	2006-05-11					"""Zinc fingers, C2H2-type"", ""-"""	13098	protein-coding gene	gene with protein product		194526	"""zinc finger protein 34 (KOX 32)"""			8104631, 2014798	Standard	XM_005272349		Approved	KOX32	uc003zdy.4	Q8IZ26		ENST00000343459.4:c.1486C>T	8.37:g.145998848G>A			D3DWN1|Q9BSZ0	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.L496	ENST00000343459.4	37	c.1486	CCDS47945.1	8																																																																																			ZNF34	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.557	ZNF34-006	KNOWN	basic|CCDS	protein_coding	ZNF34	HGNC	protein_coding	OTTHUMT00000382936.1	G	NM_030580		145998848	-1	no_errors	ENST00000343459	ensembl	human	known	70_37	silent	SNP	0.000	A
ZNF534	147658	genome.wustl.edu	37	19	52941496	52941496	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr19:52941496G>C	ENST00000332323.6	+	4	883	c.822G>C	c.(820-822)caG>caC	p.Q274H	ZNF534_ENST00000433050.1_Missense_Mutation_p.Q261H|ZNF534_ENST00000301085.4_Intron|ZNF534_ENST00000432303.2_Intron	NM_001143939.1	NP_001137411.1	Q76KX8	ZN534_HUMAN	zinc finger protein 534	274					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)			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						CACAACATCAGAAAATTCATA	0.383																																																	0													53.0	48.0	50.0					19																	52941496		1568	3582	5150	SO:0001583	missense	147658			AK058073	CCDS46165.1, CCDS46166.1	19q13.41	2013-01-08	2004-02-06	2004-02-11	ENSG00000198633	ENSG00000198633		"""Zinc fingers, C2H2-type"", ""-"""	26337	protein-coding gene	gene with protein product			"""KRAB domain only 3"""	KRBO3			Standard	NM_001143938		Approved	FLJ25344	uc002pzk.3	Q76KX8	OTTHUMG00000156493	ENST00000332323.6:c.822G>C	19.37:g.52941496G>C	ENSP00000327538:p.Gln274His		Q76KX9	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.Q274H	ENST00000332323.6	37	c.822	CCDS46165.1	19	.	.	.	.	.	.	.	.	.	.	G	6.382	0.438523	0.12104	.	.	ENSG00000198633	ENST00000332323;ENST00000433050;ENST00000391790	T;T	0.01034	5.42;5.42	1.98	0.8	0.18672	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01976	0.0062	L	0.60845	1.875	0.45791	D	0.998673	D;B	0.56521	0.976;0.0	P;B	0.51229	0.663;0.001	T	0.62426	-0.6857	9	0.54805	T	0.06	.	8.9485	0.35773	0.0:0.2327:0.7673:0.0	.	261;274	Q76KX8-2;Q76KX8	.;ZN534_HUMAN	H	274;261;273	ENSP00000327538:Q274H;ENSP00000391358:Q261H	ENSP00000327538:Q274H	Q	+	3	2	ZNF534	57633308	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.024000	0.13555	0.121000	0.18284	0.585000	0.79938	CAG	ZNF534	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF534-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF534	HGNC	protein_coding	OTTHUMT00000460877.1	G	NM_182512		52941496	+1	no_errors	ENST00000332323	ensembl	human	known	70_37	missense	SNP	0.413	C
ZNF733P	643955	genome.wustl.edu	37	7	62752248	62752248	+	RNA	SNP	C	C	G			TCGA-EA-A43B-01A-81D-A243-09	TCGA-EA-A43B-10A-01D-A243-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	4d669929-58fc-40ed-a627-87bb4daa1425	cbc3126b-456f-4b3a-8364-7c42eb48d5a4	g.chr7:62752248C>G	ENST00000331425.6	-	0	1187					NR_003952.1				zinc finger protein 733, pseudogene																		TGTAGGGTCTCTCTCCAGTAT	0.438																																																	0																																												643955					7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752248C>G				RNA	SNP	-	NULL	ENST00000331425.6	37	NULL		7																																																																																			ZNF733P	-	-		0.438	ZNF733P-002	KNOWN	basic	processed_transcript	ZNF733P	HGNC	pseudogene	OTTHUMT00000343679.1	C			62752248	-1	no_errors	ENST00000331425	ensembl	human	known	70_37	rna	SNP	1.000	G
