#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
ABCA1	19	genome.wustl.edu	37	9	107555517	107555517	+	Silent	SNP	G	G	A	rs371988457		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:107555517G>A	ENST00000374736.3	-	41	5965	c.5571C>T	c.(5569-5571)gcC>gcT	p.A1857A		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1857					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CCCCTTCCACGGCCATGGCGA	0.507																																																	0								G		1,4405	2.1+/-5.4	0,1,2202	147.0	127.0	134.0		5571	-11.9	0.1	9		134	0,8600		0,0,4300	no	coding-synonymous	ABCA1	NM_005502.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1857/2262	107555517	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5571C>T	9.37:g.107555517G>A			Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Silent	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.A1857	ENST00000374736.3	37	c.5571	CCDS6762.1	9																																																																																			ABCA1	-	NULL	ENSG00000165029		0.507	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	-	0.00	91	0	G	NM_005502		107555517	-1	tier1	-	no_errors	ENST00000374736	ensembl	human	known	74_37	silent	82.61	8	38	SNP	0.016	A
ACSBG1	23205	genome.wustl.edu	37	15	78475123	78475123	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr15:78475123C>A	ENST00000258873.4	-	6	873	c.668G>T	c.(667-669)tGg>tTg	p.W223L	ACSBG1_ENST00000560817.1_5'UTR|ACSBG1_ENST00000541759.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	223					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.W223S(1)|p.W223*(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CAACTGTTTCCAGATCTGCAT	0.463																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	large_intestine(1)|liver(1)											101.0	93.0	96.0					15																	78475123		2196	4293	6489	SO:0001583	missense	0			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.668G>T	15.37:g.78475123C>A	ENSP00000258873:p.Trp223Leu		B2RB61|O75126|Q76N27|Q9HC26	Nonsense_Mutation	SNP	NULL	p.G46*	ENST00000258873.4	37	c.136	CCDS10298.1	15	.	.	.	.	.	.	.	.	.	.	C	19.89	3.911126	0.72983	.	.	ENSG00000103740	ENST00000258873	T	0.08102	3.13	5.49	5.49	0.81192	AMP-dependent synthetase/ligase (1);	0.149009	0.48286	D	0.000196	T	0.07908	0.0198	N	0.21194	0.64	0.80722	D	1	P;B	0.35383	0.498;0.006	B;B	0.40329	0.326;0.065	T	0.44772	-0.9306	10	0.25751	T	0.34	-19.4471	11.7867	0.52047	0.0:0.9207:0.0:0.0793	.	219;223	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	L	223	ENSP00000258873:W223L	ENSP00000258873:W223L	W	-	2	0	ACSBG1	76262178	1.000000	0.71417	1.000000	0.80357	0.511000	0.34104	3.540000	0.53611	2.565000	0.86533	0.655000	0.94253	TGG	ACSBG1	-	NULL	ENSG00000103740		0.463	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG1	HGNC	protein_coding	OTTHUMT00000289802.2		0.00	30	0	C	NM_015162		78475123	-1			no_errors	ENST00000560124	ensembl	human	known	74_37	nonsense	6.00	46	3	SNP	1.000	A
ACSS3	79611	genome.wustl.edu	37	12	81537017	81537017	+	Silent	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:81537017G>A	ENST00000548058.1	+	5	1822	c.912G>A	c.(910-912)ggG>ggA	p.G304G	ACSS3_ENST00000261206.3_Silent_p.G303G			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	304						mitochondrion (GO:0005739)	acetate-CoA ligase activity (GO:0003987)|ATP binding (GO:0005524)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GCACAACGGGGTTACCTAAGG	0.408																																																	0													111.0	104.0	106.0					12																	81537017		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS9022.1	12q21.31	2014-08-08			ENSG00000111058	ENSG00000111058		"""Acyl-CoA synthetase family"""	24723	protein-coding gene	gene with protein product		614356				17762044	Standard	NM_024560		Approved	FLJ21963	uc001szl.1	Q9H6R3	OTTHUMG00000170179	ENST00000548058.1:c.912G>A	12.37:g.81537017G>A			Q8NC66	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.G304	ENST00000548058.1	37	c.912	CCDS9022.1	12																																																																																			ACSS3	-	pfam_AMP-dep_Synth/Lig	ENSG00000111058		0.408	ACSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACSS3	HGNC	protein_coding	OTTHUMT00000407794.1	-	0.00	44	0	G	NM_024560		81537017	+1	tier1	-	no_errors	ENST00000548058	ensembl	human	known	74_37	silent	48.57	36	34	SNP	0.001	A
ADAMTS2	9509	genome.wustl.edu	37	5	178555035	178555035	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:178555035C>T	ENST00000251582.7	-	17	2643	c.2542G>A	c.(2542-2544)Gtc>Atc	p.V848I		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	848	Spacer.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCTTCCAGGACGTTGTTGTCG	0.587																																																	0													200.0	163.0	176.0					5																	178555035		2203	4300	6503	SO:0001583	missense	0			AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.2542G>A	5.37:g.178555035C>T	ENSP00000251582:p.Val848Ile			Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS	p.V848I	ENST00000251582.7	37	c.2542	CCDS4444.1	5	.	.	.	.	.	.	.	.	.	.	C	12.20	1.867352	0.32977	.	.	ENSG00000087116	ENST00000251582	T	0.60548	0.18	4.55	4.55	0.56014	.	0.000000	0.50627	D	0.000109	T	0.52386	0.1731	L	0.59436	1.845	0.80722	D	1	P	0.37525	0.598	B	0.30943	0.122	T	0.59974	-0.7353	10	0.49607	T	0.09	.	16.6512	0.85203	0.0:1.0:0.0:0.0	.	848	O95450	ATS2_HUMAN	I	848	ENSP00000251582:V848I	ENSP00000251582:V848I	V	-	1	0	ADAMTS2	178487641	0.019000	0.18553	0.957000	0.39632	0.230000	0.25150	0.576000	0.23744	2.232000	0.73038	0.462000	0.41574	GTC	ADAMTS2	-	superfamily_Thrombospondin_1_rpt	ENSG00000087116		0.587	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS2	HGNC	protein_coding	OTTHUMT00000253507.1	-	0.00	46	0	C	NM_014244		178555035	-1	tier1	-	no_errors	ENST00000251582	ensembl	human	known	74_37	missense	53.19	22	25	SNP	0.987	T
ADAMTS9	56999	genome.wustl.edu	37	3	64524929	64524929	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:64524929C>T	ENST00000498707.1	-	37	5905	c.5563G>A	c.(5563-5565)Gtc>Atc	p.V1855I	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.V1827I	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1855	GON. {ECO:0000255|PROSITE- ProRule:PRU00383}.				glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		GCAAAAGGGACGGGATGTCCT	0.572																																																	0													125.0	109.0	114.0					3																	64524929		2203	4300	6503	SO:0001583	missense	0			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.5563G>A	3.37:g.64524929C>T	ENSP00000418735:p.Val1855Ile		A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V1855I	ENST00000498707.1	37	c.5563	CCDS2903.1	3	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577815	0.86645	.	.	ENSG00000163638	ENST00000295903;ENST00000498707	T;T	0.18657	2.2;2.2	5.62	4.76	0.60689	Peptidase M12B, GON-ADAMTSs (2);	0.000000	0.85682	D	0.000000	T	0.43590	0.1254	M	0.71920	2.185	0.80722	D	1	D;D	0.60575	0.988;0.988	D;D	0.64321	0.924;0.924	T	0.41875	-0.9484	10	0.59425	D	0.04	.	14.5997	0.68432	0.0:0.9298:0.0:0.0702	.	1827;1855	B7ZVX9;Q9P2N4	.;ATS9_HUMAN	I	1827;1855	ENSP00000295903:V1827I;ENSP00000418735:V1855I	ENSP00000295903:V1827I	V	-	1	0	ADAMTS9	64499969	1.000000	0.71417	0.974000	0.42286	0.994000	0.84299	7.076000	0.76806	1.383000	0.46405	0.585000	0.79938	GTC	ADAMTS9	-	pfam_Pept_M12B_GON-ADAMTSs,pfscan_Pept_M12B_GON-ADAMTSs	ENSG00000163638		0.572	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	HGNC	protein_coding	OTTHUMT00000351891.1	-	0.00	67	0	C			64524929	-1	tier1	-	no_errors	ENST00000498707	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
ADCY3	109	genome.wustl.edu	37	2	25141367	25141367	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:25141367C>T	ENST00000260600.5	-	1	1341	c.490G>A	c.(490-492)Gcg>Acg	p.A164T		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	164					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|sensory perception of smell (GO:0007608)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TCACTAGCCGCGTGGGCACGC	0.627																																																	0													76.0	81.0	79.0					2																	25141367		2203	4300	6503	SO:0001583	missense	0			AF033861	CCDS1715.1	2p23.3	2013-02-04			ENSG00000138031	ENSG00000138031	4.6.1.1	"""Adenylate cyclases"""	234	protein-coding gene	gene with protein product		600291				9920776	Standard	NM_004036		Approved	AC3	uc002rfs.4	O60266	OTTHUMG00000094765	ENST00000260600.5:c.490G>A	2.37:g.25141367C>T	ENSP00000260600:p.Ala164Thr		B3KT86|Q53T54|Q9UDB1	Missense_Mutation	SNP	pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.A164T	ENST00000260600.5	37	c.490	CCDS1715.1	2	.	.	.	.	.	.	.	.	.	.	C	2.796	-0.250334	0.05867	.	.	ENSG00000138031	ENST00000260600;ENST00000415879;ENST00000435135	T;T	0.79940	-1.32;-0.9	4.38	3.5	0.40072	.	0.422030	0.23008	N	0.052981	T	0.63022	0.2476	N	0.19112	0.55	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.54111	-0.8342	10	0.06236	T	0.91	.	11.3992	0.49860	0.0:0.9104:0.0:0.0896	.	164;164	B7ZLX9;O60266	.;ADCY3_HUMAN	T	164;139;164	ENSP00000260600:A164T;ENSP00000389799:A164T	ENSP00000260600:A164T	A	-	1	0	ADCY3	24994871	0.960000	0.32886	0.969000	0.41365	0.497000	0.33675	1.955000	0.40372	1.059000	0.40554	0.563000	0.77884	GCG	ADCY3	-	NULL	ENSG00000138031		0.627	ADCY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY3	HGNC	protein_coding	OTTHUMT00000211574.2	-	0.00	46	0	C			25141367	-1	tier1	-	no_errors	ENST00000260600	ensembl	human	known	74_37	missense	9.59	65	7	SNP	0.998	T
ADNP	23394	genome.wustl.edu	37	20	49509654	49509654	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr20:49509654T>A	ENST00000396029.3	-	5	2164	c.1597A>T	c.(1597-1599)Atg>Ttg	p.M533L	ADNP_ENST00000396032.3_Missense_Mutation_p.M533L|ADNP_ENST00000349014.3_Missense_Mutation_p.M533L|ADNP_ENST00000371602.4_Missense_Mutation_p.M533L	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	533					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						ATGTGAACCATCCGCATGTGT	0.423																																																	0													145.0	137.0	140.0					20																	49509654		2203	4300	6503	SO:0001583	missense	0			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1597A>T	20.37:g.49509654T>A	ENSP00000379346:p.Met533Leu		E1P5Y2|O94881|Q5BKU2|Q9UG34	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.M533L	ENST00000396029.3	37	c.1597	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	T	4.185	0.033031	0.08101	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.86	4.7	0.59300	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.125717	0.85682	D	0.000000	T	0.29850	0.0746	N	0.14661	0.345	0.31719	N	0.63852	B	0.02656	0.0	B	0.01281	0.0	T	0.22906	-1.0203	9	0.24483	T	0.36	-6.2565	12.7758	0.57445	0.0:0.0:0.1366:0.8634	.	533	Q9H2P0	ADNP_HUMAN	L	533	.	ENSP00000342905:M533L	M	-	1	0	ADNP	48943061	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.464000	0.35288	2.244000	0.73946	0.528000	0.53228	ATG	ADNP	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000101126		0.423	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	-	0.00	27	0	T	NM_181442		49509654	-1	tier1	-	no_errors	ENST00000349014	ensembl	human	known	74_37	missense	32.84	43	22	SNP	0.995	A
AHNAK2	113146	genome.wustl.edu	37	14	105406677	105406677	+	Silent	SNP	C	C	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:105406677C>A	ENST00000333244.5	-	7	15230	c.15111G>T	c.(15109-15111)ggG>ggT	p.G5037G	AHNAK2_ENST00000557457.1_Silent_p.G35G	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5037						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCAGGCTGACCCCACTCTTAG	0.547																																																	0													98.0	102.0	101.0					14																	105406677		1989	4176	6165	SO:0001819	synonymous_variant	0			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15111G>T	14.37:g.105406677C>A			Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G5037	ENST00000333244.5	37	c.15111	CCDS45177.1	14																																																																																			AHNAK2	-	NULL	ENSG00000185567		0.547	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK2	HGNC	protein_coding	OTTHUMT00000410300.1		0.00	71	0	C	NM_138420		105406677	-1			no_errors	ENST00000333244	ensembl	human	known	74_37	silent	5.26	71	4	SNP	0.000	A
AIG1	51390	genome.wustl.edu	37	6	143382095	143382095	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr6:143382095G>T	ENST00000275235.4	+	1	58	c.33G>T	c.(31-33)atG>atT	p.M11I	AIG1_ENST00000344492.5_Missense_Mutation_p.M11I|AIG1_ENST00000494282.2_Missense_Mutation_p.M11I|AIG1_ENST00000367596.1_Missense_Mutation_p.M11I|AIG1_ENST00000357847.4_Missense_Mutation_p.M11I|AIG1_ENST00000367598.5_Missense_Mutation_p.M11I			Q9NVV5	AIG1_HUMAN	androgen-induced 1	11						integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		TGCTGCGGATGGCAATCCTGC	0.637																																																	0													131.0	113.0	119.0					6																	143382095		2203	4300	6503	SO:0001583	missense	0			AF153605	CCDS5198.1, CCDS69216.1	6q24.1	2008-02-05			ENSG00000146416	ENSG00000146416			21607	protein-coding gene	gene with protein product		608514				11266118	Standard	NM_001286587		Approved	dJ95L4.1, AIG-1, FLJ10485	uc003qjh.3	Q9NVV5	OTTHUMG00000015721	ENST00000275235.4:c.33G>T	6.37:g.143382095G>T	ENSP00000275235:p.Met11Ile		B4DPX2|C9J569|Q5T2H2|Q6N047|Q7Z378|Q8TB14|Q9Y3A9|Q9Y5B4	Missense_Mutation	SNP	pfam_Far-17a_AIG1	p.M11I	ENST00000275235.4	37	c.33		6	.	.	.	.	.	.	.	.	.	.	g	8.854	0.945400	0.18356	.	.	ENSG00000146416	ENST00000367601;ENST00000419072;ENST00000367598;ENST00000447498;ENST00000357847;ENST00000344492;ENST00000367596;ENST00000275235	T;T;T;T;T	0.39787	1.07;1.06;1.66;1.61;1.63	3.94	2.04	0.26737	.	0.571022	0.17585	N	0.168997	T	0.06416	0.0165	N	0.08118	0	0.19575	N	0.999965	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.0;0.001;0.001;0.001	T	0.42515	-0.9447	10	0.12103	T	0.63	-11.9118	8.6207	0.33859	0.094:0.4338:0.4722:0.0	.	11;11;11;11;7	B4DPX2;Q9NVV5-3;Q9NVV5-2;Q9NVV5-5;E7ENG8	.;.;.;.;.	I	7;7;11;11;11;11;11;11	ENSP00000356573:M7I;ENSP00000405048:M11I;ENSP00000350509:M11I;ENSP00000340090:M11I;ENSP00000275235:M11I	ENSP00000275235:M11I	M	+	3	0	AIG1	143423788	0.999000	0.42202	0.371000	0.25978	0.051000	0.14879	0.500000	0.22562	0.391000	0.25143	0.552000	0.68991	ATG	AIG1	-	NULL	ENSG00000146416		0.637	AIG1-005	KNOWN	basic	protein_coding	AIG1	HGNC	protein_coding	OTTHUMT00000042510.1	-	0.00	23	0	G	NM_016108		143382095	+1	tier1	-	no_errors	ENST00000275235	ensembl	human	known	74_37	missense	45.83	26	22	SNP	0.944	T
ALDH4A1	8659	genome.wustl.edu	37	1	19199390	19199390	+	Silent	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:19199390G>T	ENST00000375341.3	-	15	1898	c.1641C>A	c.(1639-1641)atC>atA	p.I547I	RP13-279N23.2_ENST00000494072.3_Intron|ALDH4A1_ENST00000538309.1_Silent_p.I487I|ALDH4A1_ENST00000290597.5_Silent_p.I547I|ALDH4A1_ENST00000538839.1_Silent_p.I496I	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	547					4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTCTCCTTGATGACCTGCG	0.592																																																	0													123.0	111.0	116.0					1																	19199390		2203	4300	6503	SO:0001819	synonymous_variant	0			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1641C>A	1.37:g.19199390G>T			A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	p.I547	ENST00000375341.3	37	c.1641	CCDS188.1	1																																																																																			ALDH4A1	-	superfamily_Ald_DH/histidinol_DH,tigrfam_1-pyrroline-5-COlate_DH	ENSG00000159423		0.592	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	HGNC	protein_coding	OTTHUMT00000006954.1	-	0.00	44	0	G			19199390	-1	tier1	-	no_errors	ENST00000290597	ensembl	human	known	74_37	silent	8.70	42	4	SNP	1.000	T
ALKBH3	221120	genome.wustl.edu	37	11	43911359	43911359	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:43911359G>T	ENST00000302708.4	+	6	762	c.351G>T	c.(349-351)caG>caT	p.Q117H	ALKBH3_ENST00000532410.1_3'UTR|ALKBH3_ENST00000378840.4_Missense_Mutation_p.Q116H	NM_139178.3	NP_631917.1	Q96Q83	ALKB3_HUMAN	alkB, alkylation repair homolog 3 (E. coli)	117					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA repair (GO:0006281)|oxidative single-stranded DNA demethylation (GO:0035552)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA-N1-methyladenine dioxygenase activity (GO:0043734)|ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)			endometrium(2)|kidney(1)|lung(4)|prostate(1)	8					Vitamin C(DB00126)	CCTGGAAACAGAGGACTGGCA	0.483								Direct reversal of damage																																									0													121.0	112.0	115.0					11																	43911359		2203	4300	6503	SO:0001583	missense	0			AB042029	CCDS7906.1	11p11.2	2013-10-11			ENSG00000166199	ENSG00000166199		"""Alkylation repair homologs"""	30141	protein-coding gene	gene with protein product		610603				22055184	Standard	NM_139178		Approved	DEPC-1	uc001mxs.2	Q96Q83	OTTHUMG00000166417	ENST00000302708.4:c.351G>T	11.37:g.43911359G>T	ENSP00000302232:p.Gln117His		A6NDJ1|Q3SYI0|Q6NX57|Q96BU8	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase	p.Q117H	ENST00000302708.4	37	c.351	CCDS7906.1	11	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777187	0.49786	.	.	ENSG00000166199	ENST00000302708;ENST00000378840;ENST00000529366;ENST00000532129	T;T;T	0.14766	2.48;2.48;2.48	5.85	5.85	0.93711	.	0.121259	0.64402	D	0.000017	T	0.18087	0.0434	L	0.49778	1.585	0.49299	D	0.999777	B	0.29270	0.24	B	0.32762	0.152	T	0.01218	-1.1415	10	0.46703	T	0.11	-15.4532	16.8923	0.86090	0.0:0.0:1.0:0.0	.	117	Q96Q83	ALKB3_HUMAN	H	117;116;116;16	ENSP00000302232:Q117H;ENSP00000368117:Q116H;ENSP00000435848:Q116H	ENSP00000302232:Q117H	Q	+	3	2	ALKBH3	43867935	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.065000	0.57513	2.768000	0.95171	0.655000	0.94253	CAG	ALKBH3	-	NULL	ENSG00000166199		0.483	ALKBH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH3	HGNC	protein_coding	OTTHUMT00000389693.1	-	0.00	41	0	G	NM_139178		43911359	+1	tier1	-	no_errors	ENST00000302708	ensembl	human	known	74_37	missense	7.84	47	4	SNP	1.000	T
AMFR	267	genome.wustl.edu	37	16	56397878	56397878	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr16:56397878C>T	ENST00000290649.5	-	13	1949	c.1739G>A	c.(1738-1740)cGc>cAc	p.R580H		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	580					aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CACCAGCATGCGCTGTCTCTC	0.572																																					Pancreas(2;144 323 39528)												0													65.0	54.0	58.0					16																	56397878		2198	4300	6498	SO:0001583	missense	0			L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1739G>A	16.37:g.56397878C>T	ENSP00000290649:p.Arg580His		P26442|Q8IZ70	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING	p.R580H	ENST00000290649.5	37	c.1739	CCDS10758.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.31|16.31	3.086372|3.086372	0.55861|0.55861	.|.	.|.	ENSG00000159461|ENSG00000159461	ENST00000314566|ENST00000290649	.|T	.|0.15834	.|2.39	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	.|0.219986	.|0.49916	.|D	.|0.000131	T|T	0.33147|0.33147	0.0853|0.0853	M|M	0.71581|0.71581	2.175|2.175	0.58432|0.58432	D|D	0.999997|0.999997	.|B;D	.|0.61080	.|0.407;0.989	.|B;P	.|0.51135	.|0.02;0.66	T|T	0.13150|0.13150	-1.0520|-1.0520	6|10	0.62326|0.66056	D|D	0.03|0.02	-24.8058|-24.8058	18.5393|18.5393	0.91022|0.91022	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|580;229	.|Q9UKV5;Q1RN03	.|AMFR2_HUMAN;.	T|H	5|580	.|ENSP00000290649:R580H	ENSP00000313137:A5T|ENSP00000290649:R580H	A|R	-|-	1|2	0|0	AMFR|AMFR	54955379|54955379	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	3.744000|3.744000	0.55112|0.55112	2.676000|2.676000	0.91093|0.91093	0.655000|0.655000	0.94253|0.94253	GCA|CGC	AMFR	-	NULL	ENSG00000159461		0.572	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMFR	HGNC	protein_coding	OTTHUMT00000256978.2		0.00	31	0	C			56397878	-1			no_errors	ENST00000290649	ensembl	human	known	74_37	missense	5.45	52	3	SNP	1.000	T
AMZ2P1	201283	genome.wustl.edu	37	17	62971127	62971127	+	RNA	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:62971127G>T	ENST00000430983.1	-	0	559					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AGACATGTCTGGGCCTGGCCA	0.473																																																	0																																												0			AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62971127G>T				RNA	SNP	-	NULL	ENST00000430983.1	37	NULL		17																																																																																			AMZ2P1	-	-	ENSG00000214174		0.473	AMZ2P1-002	KNOWN	basic	processed_transcript	AMZ2P1	HGNC	pseudogene	OTTHUMT00000255102.1	-	0.00	47	0	G	NM_153032		62971127	-1	tier1	-	no_errors	ENST00000397713	ensembl	human	known	74_37	rna	5.56	68	4	SNP	0.019	T
ARC	23237	genome.wustl.edu	37	8	143694754	143694754	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr8:143694754C>A	ENST00000356613.2	-	1	2079	c.879G>T	c.(877-879)aaG>aaT	p.K293N	ARC_ENST00000581404.1_5'Flank	NM_015193.4	NP_056008.1	O60936	NOL3_HUMAN	activity-regulated cytoskeleton-associated protein	0					apoptotic process (GO:0006915)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of gene expression (GO:0010468)|response to hypoxia (GO:0001666)|response to injury involved in regulation of muscle adaptation (GO:0014876)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|sarcoplasm (GO:0016528)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				GCTCGCCCTGCTTCTGCGGCA	0.637																																																	0													36.0	37.0	37.0					8																	143694754		2203	4300	6503	SO:0001583	missense	0			AF193421	CCDS34950.1	8q24.3	2008-08-01			ENSG00000198576	ENSG00000198576			648	protein-coding gene	gene with protein product		612461				10970730, 17466953	Standard	NM_015193		Approved	KIAA0278, Arg3.1	uc003ywn.2	Q7LC44	OTTHUMG00000134310	ENST00000356613.2:c.879G>T	8.37:g.143694754C>A	ENSP00000349022:p.Lys293Asn		B4DFL0|O60937	Missense_Mutation	SNP	prints_Activity-reg_cytoskelet-assoc	p.K293N	ENST00000356613.2	37	c.879	CCDS34950.1	8	.	.	.	.	.	.	.	.	.	.	C	18.43	3.622369	0.66787	.	.	ENSG00000198576	ENST00000356613	T	0.30714	1.52	4.92	2.73	0.32206	.	0.096585	0.42964	U	0.000624	T	0.27629	0.0679	N	0.19112	0.55	0.36335	D	0.859092	D	0.61697	0.99	P	0.55824	0.785	T	0.21042	-1.0257	10	0.45353	T	0.12	.	6.3926	0.21595	0.0:0.6199:0.0:0.3801	.	293	Q7LC44	ARC_HUMAN	N	293	ENSP00000349022:K293N	ENSP00000349022:K293N	K	-	3	2	ARC	143691756	0.997000	0.39634	1.000000	0.80357	0.929000	0.56500	0.452000	0.21795	1.066000	0.40716	0.462000	0.41574	AAG	ARC	-	NULL	ENSG00000198576		0.637	ARC-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	ARC	HGNC	protein_coding	OTTHUMT00000259274.2	-	0.00	60	0	C			143694754	-1	tier1	-	no_errors	ENST00000356613	ensembl	human	known	74_37	missense	30.56	50	22	SNP	1.000	A
ARHGAP5	394	genome.wustl.edu	37	14	32561313	32561313	+	Nonsense_Mutation	SNP	C	C	T	rs201986816	byFrequency	TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:32561313C>T	ENST00000345122.3	+	2	1753	c.1438C>T	c.(1438-1440)Cga>Tga	p.R480*	ARHGAP5_ENST00000432921.1_Nonsense_Mutation_p.R480*|ARHGAP5_ENST00000556611.1_Nonsense_Mutation_p.R480*|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Nonsense_Mutation_p.R480*|ARHGAP5_ENST00000433497.1_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	480	FF 3.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TAGGCATCAGCGAGAAATAGT	0.383																																					NSCLC(9;77 350 3443 29227 41353)												0													70.0	72.0	71.0					14																	32561313		2203	4298	6501	SO:0001587	stop_gained	0			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.1438C>T	14.37:g.32561313C>T	ENSP00000371897:p.Arg480*		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.R480*	ENST00000345122.3	37	c.1438	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	C	39	7.554307	0.98355	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	.	.	.	6.02	5.11	0.69529	.	0.057780	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	14.0719	0.64865	0.3873:0.6127:0.0:0.0	.	.	.	.	X	480	.	ENSP00000371897:R480X	R	+	1	2	ARHGAP5	31631064	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.567000	0.45956	1.483000	0.48342	0.650000	0.86243	CGA	ARHGAP5	-	superfamily_FF_domain,smart_FF_domain	ENSG00000100852		0.383	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	-	0.00	93	0	C	NM_001030055		32561313	+1	tier1	rs201986816	no_errors	ENST00000345122	ensembl	human	known	74_37	nonsense	14.67	64	11	SNP	1.000	T
ARL8B	55207	genome.wustl.edu	37	3	5164159	5164159	+	Silent	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:5164159G>T	ENST00000256496.3	+	1	255	c.9G>T	c.(7-9)gcG>gcT	p.A3A	ARL8B_ENST00000419534.2_Silent_p.A3A	NM_018184.2	NP_060654.1	Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	3					cell cycle (GO:0007049)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|membrane (GO:0016020)|midbody (GO:0030496)|spindle midzone (GO:0051233)	alpha-tubulin binding (GO:0043014)|beta-tubulin binding (GO:0048487)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		TCATGCTGGCGCTCATCTCCC	0.672																																																	0													28.0	26.0	27.0					3																	5164159		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001564	CCDS2566.1	3p26.1	2014-05-09	2005-11-03	2005-11-03	ENSG00000134108	ENSG00000134108		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25564	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 10C"""	ARL10C		12477932	Standard	NM_018184		Approved	FLJ10702, Gie1	uc003bqg.3	Q9NVJ2	OTTHUMG00000090463	ENST00000256496.3:c.9G>T	3.37:g.5164159G>T			B4DI85	Missense_Mutation	SNP	NULL	p.A61S	ENST00000256496.3	37	c.181	CCDS2566.1	3																																																																																			ARL8B	-	NULL	ENSG00000134108		0.672	ARL8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL8B	HGNC	protein_coding	OTTHUMT00000206910.2	-	0.00	35	0	G	NM_018184		5164159	+1	tier1	-	no_errors	ENST00000455168	ensembl	human	known	74_37	missense	7.58	61	5	SNP	1.000	T
ARPP19	10776	genome.wustl.edu	37	15	52844185	52844185	+	Silent	SNP	C	C	A	rs201676094		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr15:52844185C>A	ENST00000566423.1	-	4	418	c.285G>T	c.(283-285)ccG>ccT	p.P95P	ARPP19_ENST00000568196.1_Silent_p.P79P|ARPP19_ENST00000561650.1_Silent_p.P79P|ARPP19_ENST00000564163.1_Silent_p.P114P|ARPP19_ENST00000563566.1_Silent_p.P79P|ARPP19_ENST00000249822.4_Silent_p.P95P|ARPP19_ENST00000561971.1_Silent_p.P114P|ARPP19_ENST00000565288.1_5'UTR|ARPP19_ENST00000569723.1_Silent_p.P54P|ARPP19_ENST00000563277.1_Silent_p.P79P|ARPP19_ENST00000569281.2_Silent_p.P95P|ARPP19_ENST00000567669.1_Silent_p.P95P			P56211	ARP19_HUMAN	cAMP-regulated phosphoprotein, 19kDa	95					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of glucose import (GO:0046326)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	phosphatase inhibitor activity (GO:0019212)|potassium channel regulator activity (GO:0015459)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						GAAGGTCTTGCGGAGTGGGAA	0.488																																																	0													158.0	147.0	151.0					15																	52844185		2194	4293	6487	SO:0001819	synonymous_variant	0			AF084555	CCDS32242.1	15q11.2	2009-04-20	2009-04-20		ENSG00000128989	ENSG00000128989			16967	protein-coding gene	gene with protein product	"""endosulfine alpha-like"""	605487				11279279, 8687439	Standard	NM_006628		Approved	ARPP-19, ARPP-16, ARPP16, ENSAL	uc002acd.1	P56211		ENST00000566423.1:c.285G>T	15.37:g.52844185C>A			B2R497|Q6IAM2|Q86TA6|Q9UD70	Silent	SNP	pfam_Endosulphine	p.P95	ENST00000566423.1	37	c.285	CCDS32242.1	15																																																																																			ARPP19	-	NULL	ENSG00000128989		0.488	ARPP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP19	HGNC	protein_coding	OTTHUMT00000419834.1	-	0.00	54	0	C	NM_006628		52844185	-1	tier1	-	no_errors	ENST00000249822	ensembl	human	known	74_37	silent	5.80	65	4	SNP	0.994	A
ASCC1	51008	genome.wustl.edu	37	10	73862091	73862091	+	Splice_Site	SNP	C	C	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:73862091C>A	ENST00000342444.4	-	12	1340		c.e12+1		ASCC1_ENST00000394919.1_Intron|ASCC1_ENST00000317168.6_Intron|ASCC1_ENST00000317126.4_Intron|ASCC1_ENST00000545550.1_Intron	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|transcription factor complex (GO:0005667)	catalytic activity (GO:0003824)|RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						CTGTATCTTACCCACTAGCTC	0.458																																																	0																																										SO:0001630	splice_region_variant	0			AY013290	CCDS31219.1, CCDS55713.1	10q22.1	2012-09-20			ENSG00000138303	ENSG00000138303			24268	protein-coding gene	gene with protein product		614215				10810093, 12077347	Standard	NM_001198799		Approved	CGI-18, ASC1p50, Em:AC022392.3	uc001jst.2	Q8N9N2	OTTHUMG00000018434	ENST00000342444.4:c.1200+1G>T	10.37:g.73862091C>A			Q5SW06|Q5SW07|Q96EI8|Q9Y307	Splice_Site	SNP	-	e11+1	ENST00000342444.4	37	c.1203+1	CCDS55713.1	10	.	.	.	.	.	.	.	.	.	.	C	2.586	-0.296394	0.05532	.	.	ENSG00000138303	ENST00000530394	.	.	.	0.685	-0.326	0.12698	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	-1	.	.	.	-	.	.	ASCC1	73532097	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.891000	0.04135	-0.163000	0.10946	-0.158000	0.13435	.	ASCC1	-	-	ENSG00000138303		0.458	ASCC1-004	KNOWN	basic|CCDS	protein_coding	ASCC1	HGNC	protein_coding	OTTHUMT00000048573.2	-	0.00	74	0	C	NM_015947	Intron	73862091	-1	tier1	-	no_errors	ENST00000342444	ensembl	human	known	74_37	splice_site	26.97	65	24	SNP	0.000	A
ATP8B1	5205	genome.wustl.edu	37	18	55371829	55371829	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr18:55371829C>A	ENST00000283684.4	-	3	350	c.351G>T	c.(349-351)aaG>aaT	p.K117N	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000536015.1_Missense_Mutation_p.K117N|ATP8B1_ENST00000589147.1_5'UTR			O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	117					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|drug transmembrane transport (GO:0006855)|inner ear receptor cell development (GO:0060119)|ion transmembrane transport (GO:0034220)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid translocation (GO:0045332)|regulation of microvillus assembly (GO:0032534)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|vestibulocochlear nerve formation (GO:0021650)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|cardiolipin binding (GO:1901612)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGGCTGCTCTCTTAAACTGCT	0.313																																																	0													128.0	133.0	131.0					18																	55371829		2202	4300	6502	SO:0001583	missense	0			AF038007	CCDS11965.1	18q21	2010-04-28	2010-04-28		ENSG00000081923	ENSG00000081923		"""ATPases / P-type"""	3706	protein-coding gene	gene with protein product		602397	"""ATPase, Class I, type 8B, member 1"", ""ATPase, class I, type 8B, member 1"""	FIC1, BRIC, PFIC1		9500542, 7655458	Standard	NM_005603		Approved	ATPIC, PFIC	uc002lgw.3	O43520	OTTHUMG00000132739	ENST00000283684.4:c.351G>T	18.37:g.55371829C>A	ENSP00000283684:p.Lys117Asn		Q9BTP8	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.K117N	ENST00000283684.4	37	c.351	CCDS11965.1	18	.	.	.	.	.	.	.	.	.	.	C	17.83	3.484846	0.63962	.	.	ENSG00000081923	ENST00000283684;ENST00000536015	T;T	0.76578	-1.03;-1.03	6.04	4.21	0.49690	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.094140	0.64402	D	0.000001	T	0.80581	0.4650	L	0.50847	1.595	0.47862	D	0.999538	D	0.76494	0.999	D	0.80764	0.994	T	0.80476	-0.1366	10	0.72032	D	0.01	.	2.5073	0.04648	0.1469:0.529:0.1422:0.1819	.	117	O43520	AT8B1_HUMAN	N	117	ENSP00000283684:K117N;ENSP00000445359:K117N	ENSP00000283684:K117N	K	-	3	2	ATP8B1	53522827	0.997000	0.39634	1.000000	0.80357	0.980000	0.70556	0.546000	0.23284	1.574000	0.49760	0.643000	0.83706	AAG	ATP8B1	-	tigrfam_ATPase_P-typ_Plipid-transp	ENSG00000081923		0.313	ATP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B1	HGNC	protein_coding	OTTHUMT00000256097.1	-	0.00	60	0	C	NM_005603		55371829	-1	tier1	-	no_errors	ENST00000283684	ensembl	human	known	74_37	missense	8.51	43	4	SNP	1.000	A
BCHE	590	genome.wustl.edu	37	3	165503943	165503943	+	Silent	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:165503943C>T	ENST00000264381.3	-	3	1840	c.1674G>A	c.(1672-1674)ttG>ttA	p.L558L	BCHE_ENST00000540653.1_Silent_p.L20L	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	558					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	CTGTCATTTCCAAGACTTTTG	0.358																																																	0													112.0	100.0	104.0					3																	165503943		2203	4299	6502	SO:0001819	synonymous_variant	0			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1674G>A	3.37:g.165503943C>T			A8K7P8	Silent	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.L558	ENST00000264381.3	37	c.1674	CCDS3198.1	3																																																																																			BCHE	-	NULL	ENSG00000114200		0.358	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	-	0.00	56	0	C			165503943	-1	tier1	-	no_errors	ENST00000264381	ensembl	human	known	74_37	silent	23.70	103	32	SNP	1.000	T
BRINP1	1620	genome.wustl.edu	37	9	121930291	121930291	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:121930291C>A	ENST00000265922.3	-	8	1818	c.1357G>T	c.(1357-1359)Ggc>Tgc	p.G453C	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	453					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											AGCTTGTAGCCCTTGTTGCAG	0.612																																																	0													65.0	62.0	63.0					9																	121930291		2203	4300	6503	SO:0001583	missense	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1357G>T	9.37:g.121930291C>A	ENSP00000265922:p.Gly453Cys		Q6IPV6|Q6P1A0|Q8WU22	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.G453C	ENST00000265922.3	37	c.1357	CCDS6822.1	9	.	.	.	.	.	.	.	.	.	.	C	20.6	4.009548	0.75046	.	.	ENSG00000078725	ENST00000373969;ENST00000265922	T	0.72835	-0.69	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.83394	0.5245	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84502	0.0617	10	0.87932	D	0	-26.61	19.5083	0.95130	0.0:1.0:0.0:0.0	.	453	O60477	DBC1_HUMAN	C	453	ENSP00000265922:G453C	ENSP00000265922:G453C	G	-	1	0	DBC1	120970112	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.743000	0.85020	2.600000	0.87896	0.655000	0.94253	GGC	BRINP1	-	NULL	ENSG00000078725		0.612	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRINP1	HGNC	protein_coding	OTTHUMT00000055440.2	-	0.00	18	0	C	NM_014618		121930291	-1	tier1	-	no_errors	ENST00000265922	ensembl	human	known	74_37	missense	57.69	11	15	SNP	1.000	A
BRSK2	9024	genome.wustl.edu	37	11	1459589	1459589	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:1459589G>T	ENST00000528841.1	+	3	624	c.240G>T	c.(238-240)aaG>aaT	p.K80N	BRSK2_ENST00000308230.5_Missense_Mutation_p.K80N|BRSK2_ENST00000526678.1_Missense_Mutation_p.K80N|BRSK2_ENST00000308219.9_Missense_Mutation_p.K80N|BRSK2_ENST00000382179.1_Missense_Mutation_p.K126N|BRSK2_ENST00000531197.1_Missense_Mutation_p.K80N|BRSK2_ENST00000528710.1_Missense_Mutation_p.K20N			Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axonogenesis (GO:0007409)|establishment of cell polarity (GO:0030010)|exocytosis (GO:0006887)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitotic nuclear division (GO:0007067)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		ACGTCCTAAAGCTGCACGACG	0.572																																																	0													116.0	126.0	123.0					11																	1459589		2187	4291	6478	SO:0001583	missense	0			AF020089	CCDS41590.1, CCDS58106.1, CCDS58107.1, CCDS58108.1, CCDS60696.1	11p15.5	2008-02-05	2003-09-11	2005-01-27	ENSG00000174672	ENSG00000174672			11405	protein-coding gene	gene with protein product	"""serine/threonine kinase 29"""	609236	"""chromsosome 11 open reading frame 7"""	C11orf7, STK29		9852686, 9929968	Standard	NM_001256629		Approved	PEN11B	uc001ltm.4	Q8IWQ3	OTTHUMG00000167089	ENST00000528841.1:c.240G>T	11.37:g.1459589G>T	ENSP00000432000:p.Lys80Asn		B3KVE9|E9PLM7|O60843|O95099|Q5J5B4|Q6ZMQ4|Q8TB60	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.K126N	ENST00000528841.1	37	c.378	CCDS58107.1	11	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593888	0.66219	.	.	ENSG00000174672	ENST00000308219;ENST00000531197;ENST00000308230;ENST00000528841;ENST00000526678;ENST00000528596;ENST00000524702;ENST00000528710;ENST00000382179	T;T;T;T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75	2.57	2.57	0.30868	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.061993	0.64402	U	0.000006	T	0.45696	0.1355	M	0.67625	2.065	0.80722	D	1	D;D;P;P;P	0.89917	0.962;1.0;0.908;0.578;0.523	P;D;B;B;B	0.85130	0.582;0.997;0.335;0.332;0.223	T	0.43956	-0.9359	10	0.45353	T	0.12	.	12.2615	0.54652	0.0:0.0:1.0:0.0	.	80;126;80;80;80	Q8IWQ3-4;Q8IWQ3-5;Q8IWQ3-3;Q8IWQ3;Q8IWQ3-2	.;.;.;BRSK2_HUMAN;.	N	80;80;80;80;80;20;20;20;126	ENSP00000310697:K80N;ENSP00000431152:K80N;ENSP00000310805:K80N;ENSP00000432000:K80N;ENSP00000433370:K80N;ENSP00000434075:K20N;ENSP00000432672:K20N;ENSP00000433235:K20N;ENSP00000371614:K126N	ENSP00000310697:K80N	K	+	3	2	BRSK2	1416165	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.435000	0.66532	1.455000	0.47813	0.313000	0.20887	AAG	BRSK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	ENSG00000174672		0.572	BRSK2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRSK2	HGNC	protein_coding	OTTHUMT00000393033.1	-	0.00	39	0	G	NM_003957		1459589	+1	tier1	-	no_errors	ENST00000382179	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
CCDC7	79741	genome.wustl.edu	37	10	32912718	32912718	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:32912718G>T	ENST00000375028.3	+	2	128	c.58G>T	c.(58-60)Ggt>Tgt	p.G20C	C10orf68_ENST00000375030.2_Intron|C10orf68_ENST00000375025.4_Intron			Q9H943	CJ068_HUMAN		0										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						cgtgcaggaaggtgaagtggg	0.512																																																	0																																										SO:0001583	missense	0																														ENST00000375028.3:c.58G>T	10.37:g.32912718G>T	ENSP00000364168:p.Gly20Cys		B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	NULL	p.G20C	ENST00000375028.3	37	c.58		10	.	.	.	.	.	.	.	.	.	.	.	2.798	-0.249817	0.05867	.	.	ENSG00000150076	ENST00000375028	T	0.30981	1.51	0.225	0.225	0.15325	.	.	.	.	.	T	0.47710	0.1460	.	.	.	0.19775	N	0.99996	D	0.89917	1.0	D	0.78314	0.991	T	0.25641	-1.0126	7	0.56958	D	0.05	.	.	.	.	.	20	A2A3B4	.	C	20	ENSP00000364168:G20C	ENSP00000364168:G20C	G	+	1	0	C10orf68	32952724	0.276000	0.24211	0.249000	0.24280	0.257000	0.26127	0.364000	0.20325	0.300000	0.22699	0.305000	0.20034	GGT	C10orf68	-	NULL	ENSG00000150076		0.512	C10orf68-002	PUTATIVE	basic|appris_candidate	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000314000.2	-	0.00	30	0	G			32912718	+1	tier1	-	no_errors	ENST00000375028	ensembl	human	putative	74_37	missense	8.33	44	4	SNP	0.330	T
CCDC7	79741	genome.wustl.edu	37	10	33134220	33134220	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:33134220G>T	ENST00000375028.3	+	13	1213	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	C10orf68_ENST00000375030.2_Intron|C10orf68_ENST00000375025.4_Missense_Mutation_p.K441N			Q9H943	CJ068_HUMAN		377										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						GTATAATAAAGGGATCAATCA	0.294																																																	0																																										SO:0001583	missense	0																														ENST00000375028.3:c.1143G>T	10.37:g.33134220G>T	ENSP00000364168:p.Lys381Asn		B0QZ71|Q08AN7|Q8N7T7	Missense_Mutation	SNP	NULL	p.K441N	ENST00000375028.3	37	c.1323		10	.	.	.	.	.	.	.	.	.	.	.	11.53	1.665114	0.29604	.	.	ENSG00000150076	ENST00000375028;ENST00000375025;ENST00000375037	T;T	0.27402	1.68;1.67	1.82	-0.235	0.13071	.	.	.	.	.	T	0.42787	0.1218	.	.	.	0.09310	N	1	D;D	0.65815	0.995;0.995	D;D	0.63703	0.917;0.917	T	0.23440	-1.0188	8	0.62326	D	0.03	.	4.3287	0.11053	0.3853:0.0:0.6147:0.0	.	358;381	B4DX58;A2A3B4	.;.	N	381;441;353	ENSP00000364168:K381N;ENSP00000364165:K441N	ENSP00000364165:K441N	K	+	3	2	C10orf68	33174226	0.000000	0.05858	0.002000	0.10522	0.235000	0.25334	-2.011000	0.01452	-0.059000	0.13154	0.462000	0.41574	AAG	C10orf68	-	NULL	ENSG00000150076		0.294	C10orf68-002	PUTATIVE	basic|appris_candidate	protein_coding	C10orf68	HGNC	protein_coding	OTTHUMT00000314000.2	-	0.00	89	0	G			33134220	+1	tier1	-	no_errors	ENST00000375025	ensembl	human	known	74_37	missense	11.54	23	3	SNP	0.002	T
C10orf76	79591	genome.wustl.edu	37	10	103716479	103716479	+	Splice_Site	SNP	A	A	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:103716479A>G	ENST00000370033.4	-	22	1699	c.1580T>C	c.(1579-1581)aTt>aCt	p.I527T		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	527						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		TAGGTTCACAATCTAAAAAAG	0.398																																																	0													58.0	56.0	57.0					10																	103716479		1837	4077	5914	SO:0001630	splice_region_variant	0			AK023176	CCDS41563.1	10q24.32	2008-10-21			ENSG00000120029	ENSG00000120029			25788	protein-coding gene	gene with protein product						14702039	Standard	NM_024541		Approved	FLJ13114	uc009xwy.1	Q5T2E6	OTTHUMG00000018943	ENST00000370033.4:c.1579-1T>C	10.37:g.103716479A>G			Q2TB87|Q9H8Z9	Missense_Mutation	SNP	pfam_DUF1741,superfamily_ARM-type_fold	p.I527T	ENST00000370033.4	37	c.1580	CCDS41563.1	10	.	.	.	.	.	.	.	.	.	.	A	17.79	3.475033	0.63737	.	.	ENSG00000120029	ENST00000370033;ENST00000431271	T	0.69561	-0.41	5.96	5.96	0.96718	Domain of unknown function DUF1741 (1);	0.164390	0.53938	D	0.000052	T	0.55273	0.1910	N	0.20685	0.6	0.80722	D	1	B	0.12013	0.005	B	0.21151	0.033	T	0.51980	-0.8636	10	0.52906	T	0.07	-12.7772	16.1181	0.81324	1.0:0.0:0.0:0.0	.	527	Q5T2E6	CJ076_HUMAN	T	527;102	ENSP00000359050:I527T	ENSP00000359050:I527T	I	-	2	0	C10orf76	103706469	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	8.932000	0.92897	2.284000	0.76573	0.528000	0.53228	ATT	C10orf76	-	pfam_DUF1741,superfamily_ARM-type_fold	ENSG00000120029		0.398	C10orf76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf76	HGNC	protein_coding	OTTHUMT00000050007.1	-	0.00	26	0	A	NM_024541	Missense_Mutation	103716479	-1	tier1	-	no_errors	ENST00000370033	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	G
PLET1	349633	genome.wustl.edu	37	11	112123114	112123114	+	Silent	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:112123114G>A	ENST00000338832.2	-	3	675	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_001145024.1	NP_001138496.1	Q6UQ28	PLET1_HUMAN		135					cell differentiation (GO:0030154)|negative regulation of cell-matrix adhesion (GO:0001953)|positive regulation of cell migration (GO:0030335)|wound healing, spreading of epidermal cells (GO:0035313)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)				endometrium(2)	2						GCAGCGCTCTGATCTGGACAG	0.468																																																	0													136.0	120.0	125.0					11																	112123114		692	1591	2283	SO:0001819	synonymous_variant	0																														ENST00000338832.2:c.405C>T	11.37:g.112123114G>A			Q6UQ24|Q6UQ25|Q6UQ27	Silent	SNP	NULL	p.I135	ENST00000338832.2	37	c.405		11																																																																																			C11orf34	-	NULL	ENSG00000188771		0.468	C11orf34-201	KNOWN	basic|appris_principal	protein_coding	C11orf34	HGNC	protein_coding		-	0.00	39	0	G			112123114	-1	tier1	-	no_errors	ENST00000338832	ensembl	human	known	74_37	silent	66.67	10	20	SNP	0.000	A
C16orf70	80262	genome.wustl.edu	37	16	67174430	67174430	+	Missense_Mutation	SNP	C	C	A	rs535720215		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr16:67174430C>A	ENST00000219139.3	+	10	1000	c.812C>A	c.(811-813)cCt>cAt	p.P271H	C16orf70_ENST00000569600.1_Missense_Mutation_p.P271H	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	271										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ATTCATTCTCCTTCCCCTCAT	0.348																																																	0													128.0	124.0	125.0					16																	67174430		2198	4300	6498	SO:0001583	missense	0			AK022138	CCDS10828.1	16q22.1	2011-01-25	2006-04-12	2006-04-12	ENSG00000125149	ENSG00000125149			29564	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 6"""	C16orf6, LIN10		12477932	Standard	NM_025187		Approved	lin-10, FLJ12076	uc002erd.3	Q9BSU1	OTTHUMG00000137510	ENST00000219139.3:c.812C>A	16.37:g.67174430C>A	ENSP00000219139:p.Pro271His		Q9HA86	Missense_Mutation	SNP	pfam_UPF0183	p.P271H	ENST00000219139.3	37	c.812	CCDS10828.1	16	.	.	.	.	.	.	.	.	.	.	C	15.07	2.724172	0.48728	.	.	ENSG00000125149	ENST00000219139	.	.	.	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.79028	0.4377	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.74876	-0.3515	9	0.29301	T	0.29	0.0031	18.757	0.91836	0.0:1.0:0.0:0.0	.	271	Q9BSU1	CP070_HUMAN	H	271	.	ENSP00000219139:P271H	P	+	2	0	C16orf70	65731931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.642000	0.83385	2.771000	0.95319	0.563000	0.77884	CCT	C16orf70	-	pfam_UPF0183	ENSG00000125149		0.348	C16orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf70	HGNC	protein_coding	OTTHUMT00000268829.2		0.00	48	0	C	NM_025187		67174430	+1			no_errors	ENST00000219139	ensembl	human	known	74_37	missense	6.67	56	4	SNP	1.000	A
C1QB	713	genome.wustl.edu	37	1	22987445	22987445	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:22987445delA	ENST00000314933.6	+	3	460	c.328delA	c.(328-330)aaafs	p.K110fs	C1QB_ENST00000509305.1_Frame_Shift_Del_p.K108fs	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	110	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAGGCCCCAAAGGTGAATC	0.632																																																	0													62.0	65.0	64.0					1																	22987445		2203	4300	6503	SO:0001589	frameshift_variant	0			X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.328delA	1.37:g.22987445delA	ENSP00000313967:p.Lys110fs		Q5T959|Q96H17	Frame_Shift_Del	DEL	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G111fs	ENST00000314933.6	37	c.328	CCDS228.1	1																																																																																			C1QB	-	pfam_Collagen	ENSG00000173369		0.632	C1QB-201	KNOWN	basic|CCDS	protein_coding	C1QB	HGNC	protein_coding			0.00	35	0	A	NM_000491		22987445	+1	tier1		no_errors	ENST00000314933	ensembl	human	known	74_37	frame_shift_del	5.26	36	2	DEL	0.954	-
C1QTNF1	114897	genome.wustl.edu	37	17	77043896	77043896	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:77043896G>A	ENST00000339142.2	+	5	1127	c.572G>A	c.(571-573)gGc>gAc	p.G191D	C1QTNF1_ENST00000580474.1_Missense_Mutation_p.G191D|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.G191D|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.G191D|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.G191D|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.G191D|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.G109D|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.G109D|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.G201D|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.G191D	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	191	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase B signaling (GO:0051897)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|regulation of glucose metabolic process (GO:0010906)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	collagen binding (GO:0005518)	p.G191D(1)|p.G109D(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			TACGTGCCCGGCCTCTACTTC	0.537																																																	2	Substitution - Missense(2)	large_intestine(2)											170.0	153.0	159.0					17																	77043896		2203	4300	6503	SO:0001583	missense	0			AF329840	CCDS11761.1, CCDS11762.1	17q25	2012-07-02			ENSG00000173918	ENSG00000173918			14324	protein-coding gene	gene with protein product	"""G protein coupled receptor interacting protein"""	610365				12409230	Standard	NM_198593		Approved	CTRP1, ZSIG37, GIP, FLJ90694	uc002jwp.4	Q9BXJ1	OTTHUMG00000177533	ENST00000339142.2:c.572G>A	17.37:g.77043896G>A	ENSP00000340864:p.Gly191Asp		Q6ZMH6|Q96NF2|Q9GZR4	Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.G201D	ENST00000339142.2	37	c.602	CCDS11761.1	17	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785463	0.90282	.	.	ENSG00000173918	ENST00000339142;ENST00000311661;ENST00000354124;ENST00000392444;ENST00000392445	D;D;D	0.96856	-4.15;-4.15;-4.15	4.57	4.57	0.56435	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.64402	D	0.000001	D	0.98868	0.9617	H	0.97540	4.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99716	1.1008	10	0.87932	D	0	.	17.3389	0.87291	0.0:0.0:1.0:0.0	.	201;201;191	A8K7L9;Q6ZMH6;Q9BXJ1	.;.;C1QT1_HUMAN	D	191;109;201;191;201	ENSP00000340864:G191D;ENSP00000311265:G109D;ENSP00000343230:G201D	ENSP00000311265:G109D	G	+	2	0	C1QTNF1	74555491	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.778000	0.99011	2.077000	0.62373	0.561000	0.74099	GGC	C1QTNF1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	ENSG00000173918		0.537	C1QTNF1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1QTNF1	HGNC	protein_coding	OTTHUMT00000437388.2	-	0.00	43	0	G	NM_030968		77043896	+1	tier1	-	no_errors	ENST00000354124	ensembl	human	known	74_37	missense	5.61	101	6	SNP	1.000	A
C3orf38	285237	genome.wustl.edu	37	3	88199286	88199286	+	Silent	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:88199286C>T	ENST00000318887.3	+	1	394	c.84C>T	c.(82-84)gcC>gcT	p.A28A	CGGBP1_ENST00000462901.1_5'Flank|C3orf38_ENST00000486971.1_Silent_p.A28A	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	28					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGATCATGGCCCTATGCGACA	0.632																																																	0													108.0	81.0	90.0					3																	88199286		2203	4300	6503	SO:0001819	synonymous_variant	0			AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.84C>T	3.37:g.88199286C>T			B2R8X6|Q8TC85	Silent	SNP	NULL	p.A28	ENST00000318887.3	37	c.84	CCDS2921.2	3																																																																																			C3orf38	-	NULL	ENSG00000179021		0.632	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf38	HGNC	protein_coding	OTTHUMT00000341513.1	-	0.00	72	0	C	NM_173824		88199286	+1	tier1	-	no_errors	ENST00000318887	ensembl	human	known	74_37	silent	72.50	11	29	SNP	1.000	T
C7orf43	55262	genome.wustl.edu	37	7	99754275	99754275	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:99754275C>T	ENST00000316937.3	-	7	1243	c.1058G>A	c.(1057-1059)aGc>aAc	p.S353N	C7orf43_ENST00000457641.1_Missense_Mutation_p.S84N|C7orf43_ENST00000394035.2_5'Flank|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000498638.1_5'UTR|C7orf43_ENST00000419841.1_Missense_Mutation_p.S121N	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	353										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTGTAGATGCTCTGAGTGAA	0.572																																																	0													87.0	77.0	80.0					7																	99754275		2203	4300	6503	SO:0001583	missense	0				CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.1058G>A	7.37:g.99754275C>T	ENSP00000324741:p.Ser353Asn		A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Missense_Mutation	SNP	NULL	p.S353N	ENST00000316937.3	37	c.1058	CCDS5687.1	7	.	.	.	.	.	.	.	.	.	.	C	14.37	2.515420	0.44763	.	.	ENSG00000146826	ENST00000457641;ENST00000316937;ENST00000419841	T;T;T	0.46819	0.87;0.86;0.86	5.71	5.71	0.89125	.	0.055626	0.64402	D	0.000001	T	0.28797	0.0714	N	0.14661	0.345	0.34714	D	0.728099	P;P	0.46512	0.718;0.879	B;B	0.39660	0.201;0.306	T	0.30966	-0.9960	10	0.02654	T	1	-16.0112	17.3306	0.87262	0.0:1.0:0.0:0.0	.	121;353	E9PFF9;Q8WVR3	.;CG043_HUMAN	N	84;353;121	ENSP00000396432:S84N;ENSP00000324741:S353N;ENSP00000406326:S121N	ENSP00000324741:S353N	S	-	2	0	C7orf43	99592211	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.943000	0.63554	2.702000	0.92279	0.561000	0.74099	AGC	C7orf43	-	NULL	ENSG00000146826		0.572	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf43	HGNC	protein_coding	OTTHUMT00000337395.2	-	0.00	33	0	C	NM_018275		99754275	-1	tier1	-	no_errors	ENST00000316937	ensembl	human	known	74_37	missense	28.81	42	17	SNP	1.000	T
C8orf48	157773	genome.wustl.edu	37	8	13425019	13425019	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr8:13425019G>T	ENST00000297324.4	+	1	668	c.519G>T	c.(517-519)ttG>ttT	p.L173F	RP11-145O15.3_ENST00000529018.1_RNA	NM_001007090.2	NP_001007091	Q96LL4	CH048_HUMAN	chromosome 8 open reading frame 48	173										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	5						ATGAACTTTTGAACAGAATCT	0.418																																																	0													156.0	141.0	146.0					8																	13425019		692	1591	2283	SO:0001583	missense	0			AK058131	CCDS47809.1	8p22	2012-04-13			ENSG00000164743	ENSG00000164743			26345	protein-coding gene	gene with protein product						12477932	Standard	NM_001007090		Approved	FLJ25402	uc003wwp.3	Q96LL4	OTTHUMG00000165482	ENST00000297324.4:c.519G>T	8.37:g.13425019G>T	ENSP00000297324:p.Leu173Phe		Q96LJ9	Missense_Mutation	SNP	NULL	p.L173F	ENST00000297324.4	37	c.519	CCDS47809.1	8	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220117	0.39201	.	.	ENSG00000164743	ENST00000297324	T	0.35973	1.28	5.22	-2.69	0.06022	.	1.143010	0.06912	N	0.807868	T	0.21307	0.0513	N	0.25647	0.755	0.09310	N	0.999998	B	0.14438	0.01	B	0.17433	0.018	T	0.31081	-0.9956	10	0.54805	T	0.06	0.1301	1.9385	0.03342	0.2556:0.388:0.2246:0.1318	.	173	Q96LL4	CH048_HUMAN	F	173	ENSP00000297324:L173F	ENSP00000297324:L173F	L	+	3	2	C8orf48	13469390	0.591000	0.26824	0.032000	0.17829	0.585000	0.36419	0.014000	0.13333	-0.371000	0.08004	-0.150000	0.13652	TTG	C8orf48	-	NULL	ENSG00000164743		0.418	C8orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf48	HGNC	protein_coding	OTTHUMT00000384400.1		0.00	60	0	G	NM_001007090		13425019	+1			no_errors	ENST00000297324	ensembl	human	known	74_37	missense	7.50	37	3	SNP	0.018	T
CAND2	23066	genome.wustl.edu	37	3	12849824	12849824	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:12849824G>T	ENST00000456430.2	+	4	524	c.483G>T	c.(481-483)atG>atT	p.M161I	CAND2_ENST00000295989.5_Intron|CAND2_ENST00000466558.1_3'UTR	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	161					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TCTCTGACATGCTGAGCAGGT	0.582																																					GBM(43;676 868 1633 6395 37496)												0													50.0	45.0	47.0					3																	12849824		692	1591	2283	SO:0001583	missense	0				CCDS43053.1, CCDS54554.1	3p25.2	2008-02-05			ENSG00000144712	ENSG00000144712			30689	protein-coding gene	gene with protein product	"""TBP interacting protein"""	610403				9734811, 10441524	Standard	NM_012298		Approved	TIP120B, KIAA0667, Tp120b	uc003bxk.2	O75155	OTTHUMG00000155397	ENST00000456430.2:c.483G>T	3.37:g.12849824G>T	ENSP00000387641:p.Met161Ile		B9EGM9|E9KL24	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.M161I	ENST00000456430.2	37	c.483	CCDS54554.1	3	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983878	0.53827	.	.	ENSG00000144712	ENST00000456430	T	0.60548	0.18	5.74	4.86	0.63082	Armadillo-like helical (1);Armadillo-type fold (1);	.	.	.	.	T	0.38532	0.1044	N	0.12961	0.28	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.17137	-1.0379	9	0.25106	T	0.35	-14.6911	11.7841	0.52032	0.084:0.0:0.916:0.0	.	161	O75155	CAND2_HUMAN	I	161	ENSP00000387641:M161I	ENSP00000387641:M161I	M	+	3	0	CAND2	12824824	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.529000	0.67135	2.726000	0.93360	0.655000	0.94253	ATG	CAND2	-	superfamily_ARM-type_fold	ENSG00000144712		0.582	CAND2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND2	HGNC	protein_coding	OTTHUMT00000339856.4	-	0.00	35	0	G	XM_371617		12849824	+1	tier1	-	no_errors	ENST00000456430	ensembl	human	known	74_37	missense	16.67	25	5	SNP	1.000	T
CAPNS1	826	genome.wustl.edu	37	19	36632054	36632054	+	Silent	SNP	C	C	T	rs17879825		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:36632054C>T	ENST00000246533.3	+	2	739	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CAPNS1_ENST00000587718.1_Silent_p.G47G|CAPNS1_ENST00000589146.1_Intron|CAPNS1_ENST00000590874.1_Silent_p.G47G|CAPNS1_ENST00000588815.1_Silent_p.G47G|CAPNS1_ENST00000588780.1_Silent_p.G47G|AD001527.7_ENST00000604228.1_RNA	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	47	Gly-rich (hydrophobic).|Poly-Gly.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			gcggcggcggcggtggtggag	0.761																																					Esophageal Squamous(129;1541 1691 5780 18353 34150)												0																																										SO:0001819	synonymous_variant	0			X04106	CCDS12489.1	19q13.1	2013-01-10		2001-08-10	ENSG00000126247	ENSG00000126247	3.4.22.52	"""EF-hand domain containing"""	1481	protein-coding gene	gene with protein product		114170		CAPN4		3024120, 3016651	Standard	NM_001003962		Approved	CANP, CANPS, 30K, CDPS	uc002odj.3	P04632		ENST00000246533.3:c.141C>T	19.37:g.36632054C>T			A8K0P1|Q8WTX3|Q96EW0	Silent	SNP	pfscan_EF_hand_dom	p.G47	ENST00000246533.3	37	c.141	CCDS12489.1	19																																																																																			CAPNS1	-	NULL	ENSG00000126247		0.761	CAPNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPNS1	HGNC	protein_coding	OTTHUMT00000457411.2		0.00	45	0	C			36632054	+1			no_errors	ENST00000588780	ensembl	human	known	74_37	silent	7.21	102	8	SNP	0.020	T
CARD10	29775	genome.wustl.edu	37	22	37892551	37892551	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr22:37892551G>T	ENST00000403299.1	-	14	2180	c.1964C>A	c.(1963-1965)gCt>gAt	p.A655D	CARD10_ENST00000406271.3_Missense_Mutation_p.A369D|CARD10_ENST00000251973.5_Missense_Mutation_p.A655D			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	655					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CTCCAGACCAGCAGCTTCCAC	0.617																																																	0													45.0	40.0	42.0					22																	37892551		2203	4300	6503	SO:0001583	missense	0			AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.1964C>A	22.37:g.37892551G>T	ENSP00000384570:p.Ala655Asp		Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.A655D	ENST00000403299.1	37	c.1964	CCDS13948.1	22	.	.	.	.	.	.	.	.	.	.	G	0.553	-0.848722	0.02651	.	.	ENSG00000100065	ENST00000403299;ENST00000406271;ENST00000251973;ENST00000437756;ENST00000433485	T;T;T;T	0.40756	1.02;2.72;1.02;1.5	4.89	2.73	0.32206	.	0.730148	0.13700	N	0.368894	T	0.24736	0.0600	N	0.22421	0.69	0.09310	N	1	B;B	0.32071	0.201;0.355	B;B	0.26770	0.036;0.073	T	0.11567	-1.0582	10	0.21540	T	0.41	-2.1614	9.0836	0.36567	0.0:0.2996:0.5461:0.1543	.	655;369	Q9BWT7;Q8NC81	CAR10_HUMAN;.	D	655;369;655;296;127	ENSP00000384570:A655D;ENSP00000385799:A369D;ENSP00000251973:A655D;ENSP00000416239:A296D	ENSP00000251973:A655D	A	-	2	0	CARD10	36222497	0.865000	0.29922	0.568000	0.28447	0.240000	0.25518	3.266000	0.51569	0.692000	0.31613	-0.175000	0.13238	GCT	CARD10	-	NULL	ENSG00000100065		0.617	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	HGNC	protein_coding	OTTHUMT00000318997.1	-	0.00	52	0	G	NM_014550		37892551	-1	tier1	-	no_errors	ENST00000251973	ensembl	human	known	74_37	missense	9.09	40	4	SNP	0.154	T
CASC10	399726	genome.wustl.edu	37	10	21784563	21784563	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:21784563C>T	ENST00000377113.5	-	2	824	c.377G>A	c.(376-378)gGa>gAa	p.G126E	MIR1915_ENST00000410139.1_RNA	NM_001010911.2	NP_001010911.1	Q5T4H9	CSC10_HUMAN	cancer susceptibility candidate 10	126																	AGCTGCGCATCCGCGGAAGAA	0.567											OREG0020066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													77.0	92.0	87.0					10																	21784563		2203	4300	6503	SO:0001583	missense	0			BC040880	CCDS31163.1	10p12.31	2013-07-17	2013-07-17	2013-07-17	ENSG00000204682	ENSG00000204682			31448	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 114"""	C10orf114		21804547	Standard	NM_001010911		Approved	bA418C1.3	uc001iqn.4	Q5T4H9	OTTHUMG00000017795	ENST00000377113.5:c.377G>A	10.37:g.21784563C>T	ENSP00000366317:p.Gly126Glu	751	A1L4M3	Missense_Mutation	SNP	NULL	p.G126E	ENST00000377113.5	37	c.377	CCDS31163.1	10	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273480	0.40194	.	.	ENSG00000204682	ENST00000377113	T	0.58652	0.32	3.99	3.08	0.35506	.	.	.	.	.	T	0.54111	0.1838	N	0.08118	0	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.41520	-0.9504	9	0.87932	D	0	-2.1216	7.55	0.27790	0.0:0.8805:0.0:0.1195	.	126	Q5T4H9	CJ114_HUMAN	E	126	ENSP00000366317:G126E	ENSP00000366317:G126E	G	-	2	0	C10orf114	21824569	0.199000	0.23386	0.017000	0.16124	0.017000	0.09413	1.206000	0.32321	1.030000	0.39839	0.305000	0.20034	GGA	CASC10	-	NULL	ENSG00000204682		0.567	CASC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC10	HGNC	protein_coding	OTTHUMT00000047130.2	-	0.00	54	0	C	NM_001010911		21784563	-1	tier1	-	no_errors	ENST00000377113	ensembl	human	known	74_37	missense	19.64	45	11	SNP	0.057	T
PDIA3	2923	genome.wustl.edu	37	15	44036467	44036467	+	5'Flank	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr15:44036467C>T	ENST00000300289.5	+	0	0				CATSPER2P1_ENST00000381680.2_RNA|PDIA3_ENST00000538521.1_5'Flank	NM_005313.4	NP_005304.3	P30101	PDIA3_HUMAN	protein disulfide isomerase family A, member 3						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein N-linked glycosylation via asparagine (GO:0018279)|protein retention in ER lumen (GO:0006621)|proteolysis (GO:0006508)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|phospholipase C activity (GO:0004629)|poly(A) RNA binding (GO:0044822)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		CTGATTTATGCAGCTGAAATA	0.373																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS10101.1	15q15	2009-11-20	2005-06-29	2005-03-03	ENSG00000167004	ENSG00000167004	5.3.4.1	"""Protein disulfide isomerases"""	4606	protein-coding gene	gene with protein product		602046	"""glucose regulated protein, 58kDa"", ""protein disulfide isomerase-associated 3"""	GRP58		8974399	Standard	NM_005313		Approved	P58, ERp61, ERp57, ERp60, GRP57, PI-PLC, HsT17083	uc001zsu.3	P30101	OTTHUMG00000044444		15.37:g.44036467C>T	Exception_encountered		Q13453|Q14255|Q8IYF8|Q9UMU7	RNA	SNP	-	NULL	ENST00000300289.5	37	NULL	CCDS10101.1	15																																																																																			CATSPER2P1	-	-	ENSG00000205771		0.373	PDIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER2P1	HGNC	protein_coding	OTTHUMT00000103532.3	-	0.00	63	0	C	NM_005313		44036467	-1	tier1	-	no_errors	ENST00000429276	ensembl	human	known	74_37	rna	8.00	46	4	SNP	0.000	T
CCDC22	28952	genome.wustl.edu	37	X	49106138	49106138	+	Silent	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:49106138C>T	ENST00000376227.3	+	16	1892	c.1722C>T	c.(1720-1722)atC>atT	p.I574I		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	574										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						TCCAGACCATCGAGGACACAG	0.662																																																	0													47.0	38.0	41.0					X																	49106138		2203	4299	6502	SO:0001819	synonymous_variant	0			BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.1722C>T	X.37:g.49106138C>T			A8K7G1	Silent	SNP	pfam_DUF812	p.I574	ENST00000376227.3	37	c.1722	CCDS14322.1	X																																																																																			CCDC22	-	pfam_DUF812	ENSG00000101997		0.662	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC22	HGNC	protein_coding	OTTHUMT00000060822.1	-	0.00	110	0	C	NM_014008		49106138	+1	tier1	-	no_errors	ENST00000376227	ensembl	human	known	74_37	silent	6.98	80	6	SNP	0.600	T
CCDC36	339834	genome.wustl.edu	37	3	49278678	49278678	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:49278678C>A	ENST00000438782.1	+	4	487	c.251C>A	c.(250-252)aCa>aAa	p.T84K	CCDC36_ENST00000296449.5_Missense_Mutation_p.T84K|CCDC36_ENST00000452691.2_Missense_Mutation_p.T84K|CCDC36_ENST00000451634.2_Missense_Mutation_p.T74K|CCDC36_ENST00000366429.2_Missense_Mutation_p.T84K			Q8IYA8	CCD36_HUMAN	coiled-coil domain containing 36	84										endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3)	14				BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262)		AGCATTTTCACAAAGTACCAG	0.358																																																	0													61.0	64.0	63.0					3																	49278678		2203	4300	6503	SO:0001583	missense	0			AK058049	CCDS33755.2	3p21.31	2009-08-06			ENSG00000173421	ENSG00000173421			27945	protein-coding gene	gene with protein product	"""cancer/testis antigen 74"""						Standard	NM_178173		Approved	FLJ25320, CT74	uc011bck.1	Q8IYA8	OTTHUMG00000155920	ENST00000438782.1:c.251C>A	3.37:g.49278678C>A	ENSP00000391788:p.Thr84Lys		C9JJL0|Q05DG9|Q96LP7	Missense_Mutation	SNP	NULL	p.T84K	ENST00000438782.1	37	c.251	CCDS33755.2	3	.	.	.	.	.	.	.	.	.	.	C	15.60	2.880935	0.51801	.	.	ENSG00000173421	ENST00000296449;ENST00000438782;ENST00000452691;ENST00000366429;ENST00000309062;ENST00000451634	T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36	4.75	2.92	0.33932	.	0.570526	0.16538	N	0.210061	T	0.14614	0.0353	L	0.27053	0.805	0.23016	N	0.998428	B;P	0.39250	0.13;0.665	B;B	0.44224	0.069;0.444	T	0.10359	-1.0633	10	0.52906	T	0.07	-0.6399	7.3527	0.26700	0.0:0.7252:0.0:0.2748	.	84;84	Q8IYA8-3;Q8IYA8	.;CCD36_HUMAN	K	84;84;84;84;91;74	ENSP00000296449:T84K;ENSP00000391788:T84K;ENSP00000407837:T84K;ENSP00000403700:T84K;ENSP00000397641:T74K	ENSP00000296449:T84K	T	+	2	0	CCDC36	49253682	0.999000	0.42202	0.987000	0.45799	0.941000	0.58515	1.308000	0.33528	0.698000	0.31739	0.467000	0.42956	ACA	CCDC36	-	NULL	ENSG00000173421		0.358	CCDC36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC36	HGNC	protein_coding	OTTHUMT00000342332.1		0.00	85	0	C	NM_178173		49278678	+1			no_errors	ENST00000296449	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.963	A
CCNK	8812	genome.wustl.edu	37	14	99969323	99969323	+	Splice_Site	SNP	T	T	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:99969323T>A	ENST00000389879.5	+	8	1134		c.e8+2		CCNK_ENST00000555049.1_Splice_Site	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K						cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				CGAGCCGTGGTGAGTGGGCTA	0.617																																																	0													71.0	91.0	84.0					14																	99969323		2047	4203	6250	SO:0001630	splice_region_variant	0			AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.1011+2T>A	14.37:g.99969323T>A			Q59FT6|Q86U16|Q96B63|Q9NNY9	Splice_Site	SNP	-	e7+2	ENST00000389879.5	37	c.1011+2	CCDS45160.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	11.89|11.89	1.773997|1.773997	0.31411|0.31411	.|.	.|.	ENSG00000090061|ENSG00000090061	ENST00000380246;ENST00000389879;ENST00000555049|ENST00000437596	.|.	.|.	.|.	5.23|5.23	5.23|5.23	0.72850|0.72850	.|.	.|.	.|.	.|.	.|.	.|T	.|0.42810	.|0.1219	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.34304	.|-0.9834	.|5	.|0.02654	.|T	.|1	.|-7.748	15.4233|15.4233	0.75031|0.75031	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|E	-1|338	.|.	.|ENSP00000395705:V338E	.|V	+|+	.|2	.|0	CCNK|CCNK	99039076|99039076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.077000|0.077000	0.17291|0.17291	6.405000|6.405000	0.73272|0.73272	2.092000|2.092000	0.63282|0.63282	0.460000|0.460000	0.39030|0.39030	.|GTG	CCNK	-	-	ENSG00000090061		0.617	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNK	HGNC	protein_coding	OTTHUMT00000413721.1	-	0.00	60	0	T		Intron	99969323	+1	tier1	-	no_errors	ENST00000389879	ensembl	human	known	74_37	splice_site	20.90	53	14	SNP	1.000	A
CD72	971	genome.wustl.edu	37	9	35610262	35610262	+	3'UTR	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:35610262G>T	ENST00000396757.1	-	0	1302				MIR4667_ENST00000578933.1_RNA|CD72_ENST00000259633.4_3'UTR|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCTCAGGTTAGGAAGGAGGGG	0.557																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.*58C>A	9.37:g.35610262G>T				RNA	SNP	-	NULL	ENST00000396757.1	37	NULL	CCDS6581.1	9																																																																																			CD72	-	-	ENSG00000137101		0.557	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD72	HGNC	protein_coding	OTTHUMT00000052336.1	-	0.00	97	0	G	NM_001782		35610262	-1	tier1	-	no_errors	ENST00000490239	ensembl	human	known	74_37	rna	5.00	76	4	SNP	0.000	T
CDH2	1000	genome.wustl.edu	37	18	25572711	25572711	+	Missense_Mutation	SNP	C	C	A	rs200263846		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr18:25572711C>A	ENST00000269141.3	-	9	1675	c.1252G>T	c.(1252-1254)Gca>Tca	p.A418S	CDH2_ENST00000399380.3_Missense_Mutation_p.A387S	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	418	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTGTACACTGCGTTCCAGGCT	0.502																																																	0													229.0	176.0	194.0					18																	25572711		2203	4300	6503	SO:0001583	missense	0			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.1252G>T	18.37:g.25572711C>A	ENSP00000269141:p.Ala418Ser		A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin	p.A418S	ENST00000269141.3	37	c.1252	CCDS11891.1	18	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254867	0.80135	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	T;T	0.55052	0.54;0.54	5.39	5.39	0.77823	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.75539	0.3863	M	0.82056	2.57	0.80722	D	1	D;D	0.71674	0.998;0.984	D;D	0.76071	0.987;0.952	T	0.78502	-0.2179	10	0.87932	D	0	.	19.5228	0.95192	0.0:1.0:0.0:0.0	.	387;418	A8MWK3;P19022	.;CADH2_HUMAN	S	418;387	ENSP00000269141:A418S;ENSP00000382312:A387S	ENSP00000269141:A418S	A	-	1	0	CDH2	23826709	1.000000	0.71417	0.551000	0.28230	0.257000	0.26127	6.052000	0.71080	2.674000	0.91012	0.655000	0.94253	GCA	CDH2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000170558		0.502	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	HGNC	protein_coding	OTTHUMT00000133246.3	-	0.00	44	0	C	NM_001792		25572711	-1	tier1	-	no_errors	ENST00000269141	ensembl	human	known	74_37	missense	54.35	21	25	SNP	1.000	A
CDKN2A	1029	genome.wustl.edu	37	9	21971208	21971208	+	Splice_Site	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:21971208C>T	ENST00000304494.5	-	2	421		c.e2-1		CDKN2A_ENST00000579755.1_Splice_Site|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000578845.2_5'UTR|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000579122.1_Splice_Site|CDKN2A_ENST00000497750.1_Splice_Site|CDKN2A_ENST00000498628.2_Splice_Site|CDKN2A_ENST00000494262.1_Splice_Site|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000446177.1_Splice_Site|CDKN2A_ENST00000498124.1_Splice_Site|CDKN2A_ENST00000479692.2_Splice_Site	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(38)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCATCATGACCTGCCAGAGAG	0.667		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1355	Whole gene deletion(1316)|Unknown(38)|Deletion - In frame(1)	haematopoietic_and_lymphoid_tissue(277)|skin(175)|central_nervous_system(162)|lung(146)|urinary_tract(91)|bone(74)|upper_aerodigestive_tract(60)|soft_tissue(57)|pleura(51)|oesophagus(49)|ovary(34)|kidney(30)|pancreas(30)|breast(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	GRCh37	CS014428|CS067079	CDKN2A	S							8.0	9.0	8.0					9																	21971208		2072	4134	6206	SO:0001630	splice_region_variant	0			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.151-1G>A	9.37:g.21971208C>T			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Splice_Site	SNP	-	e2-1	ENST00000304494.5	37	c.317-1	CCDS6510.1	9	.	.	.	.	.	.	.	.	.	.	C	17.45	3.392055	0.62066	.	.	ENSG00000147889	ENST00000361570;ENST00000304494;ENST00000530628;ENST00000446177	.	.	.	5.89	5.89	0.94794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0183	0.92902	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDKN2A	21961208	1.000000	0.71417	1.000000	0.80357	0.733000	0.41908	6.822000	0.75277	2.781000	0.95711	0.555000	0.69702	.	CDKN2A	-	-	ENSG00000147889		0.667	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKN2A	HGNC	protein_coding	OTTHUMT00000051915.1	-	0.00	8	0	C	NM_000077	Intron	21971208	-1	tier1	-	no_errors	ENST00000361570	ensembl	human	known	74_37	splice_site	73.33	4	11	SNP	1.000	T
CENPN	55839	genome.wustl.edu	37	16	81047747	81047747	+	Missense_Mutation	SNP	C	C	T	rs199499043		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr16:81047747C>T	ENST00000305850.5	+	3	968	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	CENPN_ENST00000393335.3_Missense_Mutation_p.R60C|CENPN_ENST00000299572.5_Missense_Mutation_p.R60C|CENPN_ENST00000428963.2_Missense_Mutation_p.R60C|CMC2_ENST00000565914.1_Intron|RP11-303E16.3_ENST00000562315.1_RNA|CENPN_ENST00000439957.3_Missense_Mutation_p.R60C|CENPN_ENST00000569461.1_3'UTR	NM_001100624.2|NM_001270474.1	NP_001094094.2|NP_001257403.1	Q96H22	CENPN_HUMAN	centromere protein N	60					CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|large_intestine(5)|lung(4)	10						TTAGGAAAAGCGTGCAAGTAT	0.323																																																	0													148.0	140.0	143.0					16																	81047747		2203	4300	6503	SO:0001583	missense	0			AK026313	CCDS10931.1, CCDS42199.1, CCDS42200.1, CCDS58482.1, CCDS58483.1	16q23.2	2013-11-05	2006-06-15	2006-06-15	ENSG00000166451	ENSG00000166451			30873	protein-coding gene	gene with protein product		611509	"""chromosome 16 open reading frame 60"""	C16orf60		16622419	Standard	NM_001100625		Approved	FLJ13607, FLJ22660, BM039	uc002ffy.4	Q96H22	OTTHUMG00000137628	ENST00000305850.5:c.178C>T	16.37:g.81047747C>T	ENSP00000305608:p.Arg60Cys		A8MZE6|B3KN53|B4DJD1|B4DPY7|C9JJM5|D3DUK8|E7ES30|E7ETS3|Q9NZ83	Missense_Mutation	SNP	pfam_Chl4/mis15/CENP-N	p.R60C	ENST00000305850.5	37	c.178	CCDS42200.1	16	.	.	.	.	.	.	.	.	.	.	C	3.511	-0.099699	0.07010	.	.	ENSG00000166451	ENST00000305850;ENST00000299572;ENST00000439957;ENST00000393335;ENST00000428963	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.75	-1.25	0.09405	.	1.284980	0.04590	N	0.396657	T	0.13841	0.0335	N	0.20401	0.57	0.09310	N	1	B;B;B;B;B	0.13145	0.005;0.001;0.002;0.001;0.007	B;B;B;B;B	0.12156	0.007;0.004;0.005;0.003;0.004	T	0.32214	-0.9915	10	0.35671	T	0.21	5.8692	7.3446	0.26656	0.1174:0.3117:0.0:0.5709	.	60;60;60;60;60	E7ETS3;E7ES30;A8MZE6;Q96H22;Q96H22-2	.;.;.;CENPN_HUMAN;.	C	60	ENSP00000305608:R60C;ENSP00000299572:R60C;ENSP00000395235:R60C;ENSP00000377007:R60C;ENSP00000393991:R60C	ENSP00000299572:R60C	R	+	1	0	CENPN	79605248	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.942000	0.03921	-0.471000	0.06891	-0.142000	0.14014	CGT	CENPN	-	pfam_Chl4/mis15/CENP-N	ENSG00000166451		0.323	CENPN-001	NOVEL	basic|appris_principal|CCDS	protein_coding	CENPN	HGNC	protein_coding	OTTHUMT00000269051.1	-	0.00	47	0	C	NM_018455		81047747	+1	tier1	rs199499043	no_errors	ENST00000299572	ensembl	human	known	74_37	missense	12.70	55	8	SNP	0.000	T
CEP164	22897	genome.wustl.edu	37	11	117244544	117244544	+	Silent	SNP	C	C	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:117244544C>A	ENST00000278935.3	+	10	1377	c.1230C>A	c.(1228-1230)ggC>ggA	p.G410G	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	410					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		CCTTCCATGGCCTGGTGAGTT	0.488																																																	0													128.0	104.0	112.0					11																	117244544		2201	4296	6497	SO:0001819	synonymous_variant	0			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.1230C>A	11.37:g.117244544C>A			Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Silent	SNP	superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom	p.G410	ENST00000278935.3	37	c.1230	CCDS31683.1	11																																																																																			CEP164	-	NULL	ENSG00000110274		0.488	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	-	0.00	76	0	C	NM_014956		117244544	+1	tier1	-	no_errors	ENST00000278935	ensembl	human	known	74_37	silent	44.07	33	26	SNP	0.999	A
CEP250	11190	genome.wustl.edu	37	20	34089770	34089770	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr20:34089770G>A	ENST00000397527.1	+	29	4717	c.3997G>A	c.(3997-3999)Gag>Aag	p.E1333K	CEP250_ENST00000342580.4_Missense_Mutation_p.E1277K	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1333	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GCGGAGAGCAGAGCTACAGCG	0.532																																																	0													77.0	75.0	76.0					20																	34089770		2203	4300	6503	SO:0001583	missense	0			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3997G>A	20.37:g.34089770G>A	ENSP00000380661:p.Glu1333Lys		E1P5Q3|O14812|O60588|Q9H450	Missense_Mutation	SNP	superfamily_Prefoldin	p.E1333K	ENST00000397527.1	37	c.3997	CCDS13255.1	20	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960535	0.74016	.	.	ENSG00000126001	ENST00000397527;ENST00000342580	T;T	0.12569	2.68;2.67	5.11	5.11	0.69529	.	0.098794	0.44285	D	0.000466	T	0.36220	0.0959	M	0.75447	2.3	0.40447	D	0.980104	D	0.89917	1.0	D	0.87578	0.998	T	0.04103	-1.0977	10	0.25751	T	0.34	.	15.3893	0.74729	0.0:0.0:1.0:0.0	.	1333	Q9BV73	CP250_HUMAN	K	1333;1277	ENSP00000380661:E1333K;ENSP00000341541:E1277K	ENSP00000341541:E1277K	E	+	1	0	CEP250	33553184	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.056000	0.49923	2.659000	0.90383	0.650000	0.86243	GAG	CEP250	-	NULL	ENSG00000126001		0.532	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	HGNC	protein_coding	OTTHUMT00000078877.7	-	0.00	60	0	G	NM_007186		34089770	+1	tier1	-	no_errors	ENST00000397527	ensembl	human	known	74_37	missense	40.15	82	55	SNP	1.000	A
CEP290	80184	genome.wustl.edu	37	12	88508214	88508214	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:88508214G>T	ENST00000552810.1	-	20	2378	c.2035C>A	c.(2035-2037)Ctt>Att	p.L679I	CEP290_ENST00000309041.7_Missense_Mutation_p.L681I|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	679					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AGTCTTTCAAGGCTAGGGATA	0.338																																																	0													156.0	138.0	144.0					12																	88508214		1602	3564	5166	SO:0001583	missense	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.2035C>A	12.37:g.88508214G>T	ENSP00000448012:p.Leu679Ile		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.L681I	ENST00000552810.1	37	c.2041	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	G	20.5	3.995407	0.74703	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998	T;T	0.79352	-1.26;-1.26	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000001	D	0.84750	0.5541	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	0.995;1.0	D;D	0.78314	0.945;0.991	T	0.82500	-0.0426	10	0.34782	T	0.22	.	11.8573	0.52446	0.1342:0.0:0.8658:0.0	.	679;679	Q05BJ6;O15078	.;CE290_HUMAN	I	679;681;679	ENSP00000448012:L679I;ENSP00000308021:L681I	ENSP00000308021:L681I	L	-	1	0	CEP290	87032345	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.264000	0.58859	2.880000	0.98712	0.650000	0.86243	CTT	CEP290	-	NULL	ENSG00000198707		0.338	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	-	0.00	76	0	G	NM_025114		88508214	-1	tier1	-	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	7.69	48	4	SNP	1.000	T
CEP290	80184	genome.wustl.edu	37	12	88522769	88522769	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:88522769T>C	ENST00000552810.1	-	11	1239	c.896A>G	c.(895-897)gAt>gGt	p.D299G	CEP290_ENST00000309041.7_Missense_Mutation_p.D299G|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	299					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)				breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AATTGGATCATCTTCTTCATT	0.284																																																	0													73.0	66.0	68.0					12																	88522769		1817	4067	5884	SO:0001583	missense	0			AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.896A>G	12.37:g.88522769T>C	ENSP00000448012:p.Asp299Gly		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Missense_Mutation	SNP	NULL	p.D299G	ENST00000552810.1	37	c.896	CCDS55858.1	12	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049036	0.55110	.	.	ENSG00000198707	ENST00000552810;ENST00000309041;ENST00000536998;ENST00000545139	T;T	0.59083	0.29;0.29	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.68769	0.3037	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.73380	0.98;0.943	T	0.65278	-0.6207	10	0.18276	T	0.48	.	11.8163	0.52214	0.0:0.0:0.1462:0.8538	.	299;299	Q05BJ6;O15078	.;CE290_HUMAN	G	299;299;299;201	ENSP00000448012:D299G;ENSP00000308021:D299G	ENSP00000308021:D299G	D	-	2	0	CEP290	87046900	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.715000	0.54897	1.912000	0.55364	0.397000	0.26171	GAT	CEP290	-	NULL	ENSG00000198707		0.284	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CEP290	HGNC	protein_coding	OTTHUMT00000406344.1	-	0.00	173	0	T	NM_025114		88522769	-1	tier1	-	no_errors	ENST00000309041	ensembl	human	known	74_37	missense	38.29	136	85	SNP	1.000	C
CERCAM	51148	genome.wustl.edu	37	9	131186799	131186800	+	Frame_Shift_Ins	INS	-	-	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:131186799_131186800insG	ENST00000372838.4	+	5	1070_1071	c.672_673insG	c.(673-675)gggfs	p.G225fs	CERCAM_ENST00000372842.1_Frame_Shift_Ins_p.G147fs	NM_016174.4	NP_057258.3	Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	225					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|leukocyte cell-cell adhesion (GO:0007159)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						TGCGGGCTGAAGGGGCAGACCA	0.624																																																	0																																										SO:0001589	frameshift_variant	0			AB040935	CCDS6901.2, CCDS69675.1	9q34.13	2008-02-05	2007-10-17	2007-10-17	ENSG00000167123	ENSG00000167123			23723	protein-coding gene	gene with protein product	"""glycosyltransferase 25 domain containing 3"""		"""cerebral cell adhesion molecule"""	CEECAM1		10608765	Standard	NM_016174		Approved	GLT25D3, CerCAM	uc004buz.4	Q5T4B2	OTTHUMG00000020747	ENST00000372838.4:c.676dupG	9.37:g.131186803_131186803dupG	ENSP00000361929:p.Gly225fs		A7MD00|C4AMA2|Q0VDF3|Q2VPJ4|Q4KMP2|Q5T4B1|Q8N107|Q96EZ5|Q9P226|Q9UMW5	Frame_Shift_Ins	INS	pfam_Glyco_trans_25	p.A225fs	ENST00000372838.4	37	c.672_673	CCDS6901.2	9																																																																																			CERCAM	-	NULL	ENSG00000167123		0.624	CERCAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CERCAM	HGNC	protein_coding	OTTHUMT00000054435.2		0.00	31	0	-	NM_016174		131186800	+1	tier1		no_errors	ENST00000372838	ensembl	human	known	74_37	frame_shift_ins	13.89	31	5	INS	0.996:0.989	G
CHEK2P2	646096	genome.wustl.edu	37	15	20488873	20488873	+	RNA	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr15:20488873C>T	ENST00000555186.1	+	0	356					NR_038836.1				checkpoint kinase 2 pseudogene 2																		TATAACCGTGCTGTGGACTGC	0.433																																																	0																																												0					15q11.1	2011-11-11			ENSG00000259156	ENSG00000259156			43578	pseudogene	pseudogene							Standard	NR_038836		Approved		uc001ytf.1		OTTHUMG00000171660		15.37:g.20488873C>T				RNA	SNP	-	NULL	ENST00000555186.1	37	NULL		15																																																																																			CHEK2P2	-	-	ENSG00000259156		0.433	CHEK2P2-002	KNOWN	basic	processed_transcript	CHEK2P2	HGNC	pseudogene	OTTHUMT00000414654.1	-	0.00	249	0	C	NR_038836		20488873	+1	tier1	-	no_errors	ENST00000555186	ensembl	human	known	74_37	rna	16.59	191	38	SNP	1.000	T
CHL1	10752	genome.wustl.edu	37	3	405013	405013	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:405013G>T	ENST00000256509.2	+	14	2174	c.1532G>T	c.(1531-1533)tGg>tTg	p.W511L	CHL1-AS1_ENST00000608098.1_RNA|CHL1_ENST00000397491.2_Missense_Mutation_p.W495L|CHL1-AS1_ENST00000417612.1_RNA	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	Q96FC9	DDX11_HUMAN	cell adhesion molecule L1-like	0					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TACTCATGTTGGGTAGAAAAT	0.408																																																	0													145.0	138.0	140.0					3																	405013		2203	4300	6503	SO:0001583	missense	0			AF002246	CCDS2556.1, CCDS58812.1, CCDS74887.1	3p26	2013-05-01	2013-05-01		ENSG00000134121	ENSG00000134121		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	1939	protein-coding gene	gene with protein product	"""neural cell adhesion molecule"", ""close homolog of L1"""	607416	"""cell adhesion molecule with homology to L1CAM (close homologue of L1)"", ""cell adhesion molecule with homology to L1CAM (close homolog of L1)"""			9799093	Standard	NM_006614		Approved	CALL, L1CAM2, FLJ44930, MGC132578	uc003bot.3	O00533	OTTHUMG00000090601	ENST00000256509.2:c.1532G>T	3.37:g.405013G>T	ENSP00000256509:p.Trp511Leu		Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.W511L	ENST00000256509.2	37	c.1532	CCDS2556.1	3	.	.	.	.	.	.	.	.	.	.	G	9.491	1.100676	0.20552	.	.	ENSG00000134121	ENST00000256509;ENST00000397491	T;T	0.65732	-0.17;-0.17	5.11	4.17	0.49024	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.226724	0.40064	N	0.001184	T	0.26882	0.0658	N	0.00750	-1.22	0.42629	D	0.993376	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.13407	0.001;0.001;0.009	T	0.28490	-1.0042	10	0.10377	T	0.69	.	10.4394	0.44455	0.0:0.0:0.7188:0.2812	.	495;495;511	B3KX75;O00533;O00533-2	.;CHL1_HUMAN;.	L	511;495	ENSP00000256509:W511L;ENSP00000380628:W495L	ENSP00000256509:W511L	W	+	2	0	CHL1	380013	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	2.233000	0.43027	2.516000	0.84829	0.650000	0.86243	TGG	CHL1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000134121		0.408	CHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHL1	HGNC	protein_coding	OTTHUMT00000207155.2	-	0.00	45	0	G	NM_006614		405013	+1	tier1	-	no_errors	ENST00000256509	ensembl	human	known	74_37	missense	8.16	45	4	SNP	1.000	T
CLCN6	1185	genome.wustl.edu	37	1	11894293	11894293	+	Splice_Site	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:11894293C>T	ENST00000346436.6	+	16	1579	c.1527C>T	c.(1525-1527)agC>agT	p.S509S	CLCN6_ENST00000376487.3_Splice_Site_p.S487S|CLCN6_ENST00000376496.3_Splice_Site_p.S509S|CLCN6_ENST00000312413.6_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	509					cell volume homeostasis (GO:0006884)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|response to mechanical stimulus (GO:0009612)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|voltage-gated chloride channel activity (GO:0005247)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCTTCACTAGCTACATTGGAT	0.532																																																	0													138.0	123.0	128.0					1																	11894293		2203	4300	6503	SO:0001630	splice_region_variant	0			X83378	CCDS138.1, CCDS57972.1	1p36	2012-09-26	2012-02-23		ENSG00000011021	ENSG00000011021		"""Ion channels / Chloride channels : Voltage-sensitive"""	2024	protein-coding gene	gene with protein product		602726	"""chloride channel 6"""			8543009	Standard	NM_001286		Approved	CLC-6, KIAA0046, ClC-6	uc001ate.5	P51797	OTTHUMG00000002299	ENST00000346436.6:c.1527-1C>T	1.37:g.11894293C>T			A8K1T4|B4DGT7|F8W9R3|O60818|O60819|O60820|O60821|P78520|P78521|Q17R81|Q5SNW2|Q5SNW3|Q5SNX1|Q5SNX2|Q5SNX3|Q99427|Q99428|Q99429	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-6	p.S509	ENST00000346436.6	37	c.1527	CCDS138.1	1																																																																																			CLCN6	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000011021		0.532	CLCN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN6	HGNC	protein_coding	OTTHUMT00000006639.2	-	0.00	30	0	C	NM_001286	Silent	11894293	+1	tier1	-	no_errors	ENST00000346436	ensembl	human	known	74_37	silent	41.46	24	17	SNP	1.000	T
CLSTN3	9746	genome.wustl.edu	37	12	7310144	7310144	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:7310144G>A	ENST00000266546.6	+	17	3037	c.2587G>A	c.(2587-2589)Gtc>Atc	p.V863I	CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000537408.1_Missense_Mutation_p.V875I	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	863					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGTGCTCATGGTCGTCCTGGG	0.662																																																	0													78.0	65.0	69.0					12																	7310144		2203	4300	6503	SO:0001583	missense	0			AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2587G>A	12.37:g.7310144G>A	ENSP00000266546:p.Val863Ile		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V863I	ENST00000266546.6	37	c.2587	CCDS8575.1	12	.	.	.	.	.	.	.	.	.	.	G	10.51	1.369789	0.24771	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.55760	0.5;0.5	4.72	4.72	0.59763	.	0.000000	0.64402	D	0.000002	T	0.57858	0.2082	L	0.27053	0.805	0.58432	D	0.999994	D;D;B	0.58970	0.959;0.984;0.172	D;D;B	0.68192	0.949;0.956;0.145	T	0.48352	-0.9043	10	0.12430	T	0.62	-44.2074	18.2262	0.89917	0.0:0.0:1.0:0.0	.	205;875;863	Q8IUW6;Q5UE57;Q9BQT9	.;.;CSTN3_HUMAN	I	863;875	ENSP00000266546:V863I;ENSP00000440679:V875I	ENSP00000266546:V863I	V	+	1	0	CLSTN3	7201411	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	5.618000	0.67722	2.619000	0.88677	0.462000	0.41574	GTC	CLSTN3	-	NULL	ENSG00000139182		0.662	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN3	HGNC	protein_coding	OTTHUMT00000398560.2		0.00	28	0	G	NM_014718		7310144	+1			no_errors	ENST00000266546	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	A
CLVS2	134829	genome.wustl.edu	37	6	123377007	123377007	+	Silent	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr6:123377007C>T	ENST00000275162.5	+	5	2067	c.732C>T	c.(730-732)atC>atT	p.I244I	CLVS2_ENST00000368438.1_Silent_p.I98I	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	244	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ATCCTGAGATCCTGCCCTCTG	0.453																																																	0													188.0	159.0	168.0					6																	123377007		2203	4300	6503	SO:0001819	synonymous_variant	0			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.732C>T	6.37:g.123377007C>T			B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.I244	ENST00000275162.5	37	c.732	CCDS34525.1	6																																																																																			CLVS2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	ENSG00000146352		0.453	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	HGNC	protein_coding	OTTHUMT00000042042.2	-	0.00	33	0	C	NM_001010852		123377007	+1	tier1	-	no_errors	ENST00000275162	ensembl	human	known	74_37	silent	25.00	48	16	SNP	0.948	T
CMYA5	202333	genome.wustl.edu	37	5	79029332	79029332	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:79029332C>T	ENST00000446378.2	+	2	4775	c.4744C>T	c.(4744-4746)Cca>Tca	p.P1582S		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1582					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGGTTTAGCCCCAACATTACT	0.423																																																	0													132.0	133.0	133.0					5																	79029332		1898	4128	6026	SO:0001583	missense	0			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.4744C>T	5.37:g.79029332C>T	ENSP00000394770:p.Pro1582Ser		A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.P1582S	ENST00000446378.2	37	c.4744	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625782	0.46840	.	.	ENSG00000164309	ENST00000446378	T	0.09723	2.95	5.78	0.137	0.14787	.	1.305950	0.05066	N	0.480804	T	0.06645	0.0170	L	0.34521	1.04	0.09310	N	1	B	0.24721	0.11	B	0.17979	0.02	T	0.36529	-0.9744	10	0.09084	T	0.74	.	1.6675	0.02805	0.1397:0.4653:0.1364:0.2587	.	1582	Q8N3K9	CMYA5_HUMAN	S	1582	ENSP00000394770:P1582S	ENSP00000394770:P1582S	P	+	1	0	CMYA5	79065088	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.268000	0.08607	0.322000	0.23283	0.655000	0.94253	CCA	CMYA5	-	NULL	ENSG00000164309		0.423	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1		0.00	38	0	C	NM_153610		79029332	+1			no_errors	ENST00000446378	ensembl	human	known	74_37	missense	6.45	29	2	SNP	0.000	T
CNOT4	4850	genome.wustl.edu	37	7	135079021	135079021	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:135079021G>C	ENST00000315544.5	-	10	1555	c.1276C>G	c.(1276-1278)Caa>Gaa	p.Q426E	CNOT4_ENST00000541284.1_Missense_Mutation_p.Q426E|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000361528.4_Missense_Mutation_p.Q423E|CNOT4_ENST00000451834.1_Missense_Mutation_p.Q423E|CNOT4_ENST00000428680.2_Missense_Mutation_p.Q423E|CNOT4_ENST00000423368.2_Missense_Mutation_p.Q426E|CNOT4_ENST00000356162.4_Intron	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	426					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GGTTGGTCTTGAACGGACAGT	0.498																																					Ovarian(51;766 1130 5502 35047 50875)												0													133.0	136.0	135.0					7																	135079021		1979	4164	6143	SO:0001583	missense	0			AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.1276C>G	7.37:g.135079021G>C	ENSP00000326731:p.Gln426Glu		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,pfscan_Znf_RING,pfscan_RRM_dom	p.Q426E	ENST00000315544.5	37	c.1276	CCDS55166.1	7	.	.	.	.	.	.	.	.	.	.	G	14.02	2.412247	0.42817	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000428680;ENST00000315544	T;T;T;T;T;T	0.50813	0.73;0.73;0.73;0.73;0.73;0.73	5.91	5.0	0.66597	.	0.048038	0.85682	D	0.000000	T	0.30198	0.0757	N	0.17082	0.46	0.58432	D	0.999996	B;B;B;B;B;B	0.15473	0.001;0.002;0.002;0.013;0.004;0.004	B;B;B;B;B;B	0.13407	0.002;0.004;0.004;0.009;0.009;0.009	T	0.11203	-1.0597	10	0.07030	T	0.85	-6.0457	15.2644	0.73649	0.0:0.0:0.8588:0.1412	.	423;426;426;423;426;423	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	E	426;423;426;426;423;423;426	ENSP00000445508:Q426E;ENSP00000388491:Q423E;ENSP00000406777:Q426E;ENSP00000354673:Q423E;ENSP00000399108:Q423E;ENSP00000326731:Q426E	ENSP00000262563:Q426E	Q	-	1	0	CNOT4	134729561	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.360000	0.73064	1.443000	0.47586	0.655000	0.94253	CAA	CNOT4	-	NULL	ENSG00000080802		0.498	CNOT4-201	KNOWN	basic|CCDS	protein_coding	CNOT4	HGNC	protein_coding		-	0.00	91	0	G	NM_013316		135079021	-1	tier1	-	no_errors	ENST00000541284	ensembl	human	known	74_37	missense	26.32	56	20	SNP	1.000	C
CNTNAP3	79937	genome.wustl.edu	37	9	39174372	39174372	+	Intron	SNP	T	T	A	rs113196130		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:39174372T>A	ENST00000297668.6	-	7	1145				CNTNAP3_ENST00000377659.1_Intron|CNTNAP3_ENST00000377653.2_5'UTR|CNTNAP3_ENST00000358144.2_Intron|CNTNAP3_ENST00000377656.2_Intron|CNTNAP3_ENST00000323947.7_Intron	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3						cell adhesion (GO:0007155)|cell recognition (GO:0008037)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCAAACCCATCTTTTTTTTT	0.343																																																	0																																										SO:0001627	intron_variant	0			AF333769	CCDS6616.1	9q12	2008-02-05			ENSG00000106714	ENSG00000106714			13834	protein-coding gene	gene with protein product	"""cell recognition molecule CASPR3 (FLJ14195, KIAA1714)"""	610517				12093160	Standard	NM_033655		Approved	CASPR3, KIAA1714, FLJ14195, CNTNAP3A	uc004abi.3	Q9BZ76	OTTHUMG00000019954	ENST00000297668.6:c.1071+1573A>T	9.37:g.39174372T>A			B1AMA0|Q9C0E9	RNA	SNP	-	NULL	ENST00000297668.6	37	NULL	CCDS6616.1	9																																																																																			CNTNAP3	-	-	ENSG00000106714		0.343	CNTNAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3	HGNC	protein_coding	OTTHUMT00000052511.1	-	0.00	39	0	T	NM_033655		39174372	-1	tier1	rs200822754	no_errors	ENST00000377653	ensembl	human	known	74_37	rna	9.43	48	5	SNP	0.776	A
COL6A3	1293	genome.wustl.edu	37	2	238253432	238253432	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:238253432G>T	ENST00000295550.4	-	36	7681	c.7229C>A	c.(7228-7230)tCt>tAt	p.S2410Y	COL6A3_ENST00000353578.4_Missense_Mutation_p.S2204Y|COL6A3_ENST00000472056.1_Missense_Mutation_p.S1803Y|COL6A3_ENST00000347401.3_Missense_Mutation_p.S2209Y|COL6A3_ENST00000409809.1_Missense_Mutation_p.S2204Y|COL6A3_ENST00000346358.4_Missense_Mutation_p.S2210Y	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2410	Nonhelical region.|VWFA 11. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GACTCCCTCAGAGGTGTCTAA	0.537																																																	0													81.0	87.0	85.0					2																	238253432		2202	4300	6502	SO:0001583	missense	0			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7229C>A	2.37:g.238253432G>T	ENSP00000295550:p.Ser2410Tyr		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.S2410Y	ENST00000295550.4	37	c.7229	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	G	10.19	1.280726	0.23392	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.98666	-5.06;-5.06;-5.06;-5.06;-5.06;-5.06	5.08	5.08	0.68730	von Willebrand factor, type A (3);	0.000000	0.53938	D	0.000059	D	0.99124	0.9698	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.993;0.989;0.988;0.998	D	0.99821	1.1047	10	0.87932	D	0	.	18.4964	0.90866	0.0:0.0:1.0:0.0	.	1803;1803;2204;2410	E9PFQ6;B7ZMJ7;P12111-2;P12111	.;.;.;CO6A3_HUMAN	Y	2410;2209;2204;1803;2204;2210	ENSP00000295550:S2410Y;ENSP00000315609:S2209Y;ENSP00000315873:S2204Y;ENSP00000418285:S1803Y;ENSP00000386844:S2204Y;ENSP00000295546:S2210Y	ENSP00000295550:S2410Y	S	-	2	0	COL6A3	237918171	1.000000	0.71417	0.953000	0.39169	0.119000	0.20118	9.680000	0.98651	2.358000	0.79984	0.561000	0.74099	TCT	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000163359		0.537	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2		0.00	49	0	G	NM_004369		238253432	-1			no_errors	ENST00000295550	ensembl	human	known	74_37	missense	5.13	37	2	SNP	1.000	T
CPOX	1371	genome.wustl.edu	37	3	98311880	98311880	+	Missense_Mutation	SNP	G	G	C	rs148466102		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:98311880G>C	ENST00000264193.2	-	1	687	c.469C>G	c.(469-471)Ctg>Gtg	p.L157V		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	157					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TGGGTCTCCAGAATCAGCAGC	0.657																																					Esophageal Squamous(75;7 1223 22300 43648 48951)												0													31.0	31.0	31.0					3																	98311880		2203	4300	6503	SO:0001583	missense	0			BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.469C>G	3.37:g.98311880G>C	ENSP00000264193:p.Leu157Val		A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Missense_Mutation	SNP	pfam_Coprogen_oxidase_aer,superfamily_Coprogen_oxidase_aer,prints_Coprogen_oxidase_aer	p.L157V	ENST00000264193.2	37	c.469	CCDS2932.1	3	.	.	.	.	.	.	.	.	.	.	G	12.55	1.972382	0.34848	.	.	ENSG00000080819	ENST00000264193	D	0.93247	-3.19	4.67	-2.15	0.07102	.	0.217340	0.53938	D	0.000053	D	0.92136	0.7507	M	0.72353	2.195	0.29955	N	0.819881	B;B	0.31274	0.317;0.062	B;B	0.41332	0.354;0.169	D	0.87585	0.2487	10	0.59425	D	0.04	-3.3096	9.9818	0.41817	0.0886:0.0:0.157:0.7543	.	157;157	B4DSD5;P36551	.;HEM6_HUMAN	V	157	ENSP00000264193:L157V	ENSP00000264193:L157V	L	-	1	2	CPOX	99794570	1.000000	0.71417	0.404000	0.26397	0.346000	0.29079	1.923000	0.40055	-0.672000	0.05266	-0.188000	0.12872	CTG	CPOX	-	pfam_Coprogen_oxidase_aer,superfamily_Coprogen_oxidase_aer	ENSG00000080819		0.657	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPOX	HGNC	protein_coding	OTTHUMT00000358900.1	-	0.00	67	0	G	NM_000097		98311880	-1	tier1	-	no_errors	ENST00000264193	ensembl	human	known	74_37	missense	15.00	153	27	SNP	0.999	C
CTNND2	1501	genome.wustl.edu	37	5	10981940	10981940	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:10981940G>T	ENST00000304623.8	-	21	3551	c.3362C>A	c.(3361-3363)tCa>tAa	p.S1121*	CTNND2_ENST00000458100.2_Nonsense_Mutation_p.S688*|CTNND2_ENST00000511377.1_Nonsense_Mutation_p.S1030*|CTNND2_ENST00000359640.2_Nonsense_Mutation_p.S1063*|CTNND2_ENST00000503622.1_Nonsense_Mutation_p.S784*|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1121					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATACAAAGTTGAAATTCCAGT	0.348																																																	0													128.0	127.0	127.0					5																	10981940		2203	4300	6503	SO:0001587	stop_gained	0			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3362C>A	5.37:g.10981940G>T	ENSP00000307134:p.Ser1121*		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.S1121*	ENST00000304623.8	37	c.3362	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	G	46	12.268612	0.99652	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	-10.3697	20.5792	0.99380	0.0:0.0:1.0:0.0	.	.	.	.	X	1121;1063;1030;216;688;784	.	ENSP00000307134:S1121X	S	-	2	0	CTNND2	11034940	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.257000	0.95545	2.873000	0.98535	0.561000	0.74099	TCA	CTNND2	-	NULL	ENSG00000169862		0.348	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	-	0.00	56	0	G	NM_001332		10981940	-1	tier1	-	no_errors	ENST00000304623	ensembl	human	known	74_37	nonsense	8.00	46	4	SNP	1.000	T
CTTN	2017	genome.wustl.edu	37	11	70281137	70281137	+	Missense_Mutation	SNP	G	G	A	rs369658947		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:70281137G>A	ENST00000301843.8	+	18	1728	c.1522G>A	c.(1522-1524)Gat>Aat	p.D508N	CTTN_ENST00000376561.3_Missense_Mutation_p.D471N|CTTN_ENST00000346329.3_Missense_Mutation_p.D471N|CTTN_ENST00000538675.1_Missense_Mutation_p.D192N	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	508	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CCCAGCGGGCGATGATGAGAT	0.552																																																	0								G	ASN/ASP,ASN/ASP,ASN/ASP	1,4399	2.1+/-5.4	0,1,2199	97.0	89.0	92.0		1411,1522,1411	4.9	0.8	11		92	0,8588		0,0,4294	no	missense,missense,missense	CTTN	NM_001184740.1,NM_005231.3,NM_138565.2	23,23,23	0,1,6493	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	471/635,508/551,471/514	70281137	1,12987	2200	4294	6494	SO:0001583	missense	0			AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.1522G>A	11.37:g.70281137G>A	ENSP00000301843:p.Asp508Asn		Q8N707|Q96H99	Missense_Mutation	SNP	pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox	p.D508N	ENST00000301843.8	37	c.1522	CCDS41680.1	11	.	.	.	.	.	.	.	.	.	.	G	17.83	3.485712	0.63962	2.27E-4	0.0	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000538675;ENST00000529736	T;T;T;T;T	0.53423	0.62;0.62;0.66;0.66;0.66	5.82	4.9	0.64082	Src homology-3 domain (4);	0.276343	0.40469	N	0.001087	T	0.69124	0.3076	M	0.73753	2.245	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.969;0.998	D;D;P;D	0.97110	1.0;0.999;0.745;0.955	T	0.73395	-0.3996	10	0.62326	D	0.03	-39.6655	16.2651	0.82574	0.0:0.0:0.8662:0.1338	.	192;471;508;471	B4E358;Q96H99;Q14247;Q8N707	.;.;SRC8_HUMAN;.	N	471;508;471;192;165	ENSP00000317189:D471N;ENSP00000301843:D508N;ENSP00000365745:D471N;ENSP00000439762:D192N;ENSP00000431421:D165N	ENSP00000301843:D508N	D	+	1	0	CTTN	69958785	1.000000	0.71417	0.815000	0.32552	0.014000	0.08584	9.579000	0.98204	1.434000	0.47414	-0.181000	0.13052	GAT	CTTN	-	pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox	ENSG00000085733		0.552	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTN	HGNC	protein_coding	OTTHUMT00000259233.2	-	0.00	48	0	G	NM_138565		70281137	+1	tier1	-	no_errors	ENST00000301843	ensembl	human	known	74_37	missense	10.98	469	58	SNP	1.000	A
CYP2W1	54905	genome.wustl.edu	37	7	1024635	1024635	+	Silent	SNP	G	G	C			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:1024635G>C	ENST00000308919.7	+	3	400	c.387G>C	c.(385-387)acG>acC	p.T129T	CYP2W1_ENST00000340150.6_Silent_p.T73T	NM_017781.2	NP_060251.2	Q8TAV3	CP2W1_HUMAN	cytochrome P450, family 2, subfamily W, polypeptide 1	129					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)			breast(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCCAGTTCACGGTGCGTGCCC	0.652																																																	0													32.0	39.0	36.0					7																	1024635		2202	4299	6501	SO:0001819	synonymous_variant	0			AK000366	CCDS5319.2	7p22.3	2004-07-05			ENSG00000073067	ENSG00000073067		"""Cytochrome P450s"""	20243	protein-coding gene	gene with protein product		615967					Standard	XM_005249792		Approved	FLJ20359, MGC34287	uc003sjq.1	Q8TAV3	OTTHUMG00000074071	ENST00000308919.7:c.387G>C	7.37:g.1024635G>C				Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.T129	ENST00000308919.7	37	c.387	CCDS5319.2	7																																																																																			CYP2W1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000073067		0.652	CYP2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2W1	HGNC	protein_coding	OTTHUMT00000157249.1	-	0.00	67	0	G	NM_017781		1024635	+1	tier1	-	no_errors	ENST00000308919	ensembl	human	known	74_37	silent	44.71	47	38	SNP	0.000	C
DCLRE1C	64421	genome.wustl.edu	37	10	14951315	14951315	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:14951315A>G	ENST00000378278.2	-	14	1208	c.1171T>C	c.(1171-1173)Tat>Cat	p.Y391H	DCLRE1C_ENST00000378249.1_Missense_Mutation_p.Y276H|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.Y271H|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.Y44H|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.Y271H|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.Y271H|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.Y271H|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.Y276H|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.Y271H|DCLRE1C_ENST00000378289.4_Intron|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.Y276H			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	391					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						TCAAAGAGATAGTCATCTTCC	0.383								Non-homologous end-joining																																									0													41.0	44.0	43.0					10																	14951315		2197	4295	6492	SO:0001583	missense	0			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1171T>C	10.37:g.14951315A>G	ENSP00000367527:p.Tyr391His		D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	pfam_DRMBL	p.Y391H	ENST00000378278.2	37	c.1171	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	A	4.754	0.140216	0.09083	.	.	ENSG00000152457	ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T	0.75154	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.91;-0.36	5.77	4.86	0.63082	.	0.384757	0.27358	N	0.019740	T	0.63885	0.2549	N	0.22421	0.69	0.09310	N	1	B;B	0.23490	0.086;0.065	B;B	0.28139	0.086;0.059	T	0.51553	-0.8691	10	0.25751	T	0.34	.	16.3166	0.82930	0.135:0.865:0.0:0.0	.	276;391	Q96SD1-3;Q96SD1	.;DCR1C_HUMAN	H	271;276;276;276;271;271;271;391;271;44	ENSP00000400529:Y271H;ENSP00000367492:Y276H;ENSP00000350349:Y276H;ENSP00000367496:Y276H;ENSP00000380030:Y271H;ENSP00000367503:Y271H;ENSP00000367502:Y271H;ENSP00000367527:Y391H;ENSP00000367506:Y271H	ENSP00000350349:Y276H	Y	-	1	0	DCLRE1C	14991321	0.090000	0.21635	0.028000	0.17463	0.600000	0.36913	2.067000	0.41461	1.437000	0.47472	-0.174000	0.13273	TAT	DCLRE1C	-	NULL	ENSG00000152457		0.383	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	-	0.00	36	0	A	NM_022487		14951315	-1	tier1	-	no_errors	ENST00000378278	ensembl	human	known	74_37	missense	6.56	57	4	SNP	0.313	G
DENND1C	79958	genome.wustl.edu	37	19	6475721	6475721	+	Missense_Mutation	SNP	G	G	T	rs78159909		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:6475721G>T	ENST00000381480.2	-	12	933	c.821C>A	c.(820-822)gCc>gAc	p.A274D	DENND1C_ENST00000591030.1_5'Flank|DENND1C_ENST00000543576.1_Missense_Mutation_p.A230D	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	274	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	cytoplasmic vesicle (GO:0031410)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GCTCACCTCGGCGAGACTGGC	0.687																																																	0													18.0	20.0	19.0					19																	6475721		2117	4206	6323	SO:0001583	missense	0			AL713770	CCDS45938.1	19p13.3	2014-02-06	2005-08-17	2005-08-17	ENSG00000205744	ENSG00000205744		"""DENN/MADD domain containing"""	26225	protein-coding gene	gene with protein product		613634	"""family with sequence similarity 31, member C"""	FAM31C		12477932	Standard	XM_005259646		Approved	FLJ22757	uc002mfe.3	Q8IV53	OTTHUMG00000180853	ENST00000381480.2:c.821C>A	19.37:g.6475721G>T	ENSP00000370889:p.Ala274Asp		B4E051|D3PFD4|Q8NDB1|Q9H5Z2	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.A274D	ENST00000381480.2	37	c.821	CCDS45938.1	19	.	.	.	.	.	.	.	.	.	.	G	18.68	3.676405	0.67928	.	.	ENSG00000205744	ENST00000381480;ENST00000543576	T;T	0.11604	2.76;2.76	4.79	2.47	0.30058	DENN (3);	0.794321	0.11660	N	0.541902	T	0.14399	0.0348	L	0.39898	1.24	0.09310	N	0.999999	B	0.34255	0.445	P	0.46940	0.532	T	0.32561	-0.9902	10	0.72032	D	0.01	-6.7597	4.5118	0.11915	0.4302:0.0:0.5698:0.0	.	274	Q8IV53	DEN1C_HUMAN	D	274;230	ENSP00000370889:A274D;ENSP00000437805:A230D	ENSP00000370889:A274D	A	-	2	0	DENND1C	6426721	0.038000	0.19896	0.971000	0.41717	0.955000	0.61496	2.307000	0.43682	1.012000	0.39366	0.555000	0.69702	GCC	DENND1C	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000205744		0.687	DENND1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND1C	HGNC	protein_coding	OTTHUMT00000453332.2		0.00	31	0	G	NM_024898		6475721	-1			no_errors	ENST00000381480	ensembl	human	known	74_37	missense	5.06	75	4	SNP	0.059	T
DHX30	22907	genome.wustl.edu	37	3	47889696	47889696	+	Silent	SNP	A	A	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:47889696A>G	ENST00000445061.1	+	15	2720	c.2313A>G	c.(2311-2313)gtA>gtG	p.V771V	DHX30_ENST00000348968.4_Silent_p.V743V|MIR1226_ENST00000408658.1_RNA|DHX30_ENST00000457607.1_Silent_p.V799V|DHX30_ENST00000446256.2_Silent_p.V732V	NM_138615.2	NP_619520.1	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	771	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAGTGTGGGTATCAAGAGCCA	0.607																																																	0													65.0	64.0	64.0					3																	47889696		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020697	CCDS2759.1	3p24.3-p22.1	2013-07-16	2013-07-16	2003-06-13	ENSG00000132153	ENSG00000132153		"""DEAH-boxes"""	16716	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 30"""	DDX30		10048485, 18022663	Standard	NM_138615		Approved	KIAA0890, FLJ11214	uc003cru.3	Q7L2E3	OTTHUMG00000133522	ENST00000445061.1:c.2313A>G	3.37:g.47889696A>G			A8K5F1|O94965|Q7Z753|Q96CH4|Q9NUQ0	Silent	SNP	pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.V771	ENST00000445061.1	37	c.2313	CCDS2759.1	3																																																																																			DHX30	-	pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C	ENSG00000132153		0.607	DHX30-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DHX30	HGNC	protein_coding	OTTHUMT00000257495.2		0.00	53	0	A	NM_138615		47889696	+1			no_errors	ENST00000445061	ensembl	human	known	74_37	silent	12.77	41	6	SNP	1.000	G
DISC1	27185	genome.wustl.edu	37	1	231906770	231906770	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:231906770G>T	ENST00000602281.1	+	6	1641	c.1588G>T	c.(1588-1590)Gcc>Tcc	p.A530S	DISC1_ENST00000439617.2_Missense_Mutation_p.A530S|DISC1_ENST00000366637.3_5'UTR|DISC1_ENST00000366636.4_Missense_Mutation_p.A530S|DISC1_ENST00000535983.1_Missense_Mutation_p.A530S|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000537876.1_Missense_Mutation_p.A530S|DISC1_ENST00000602873.1_Missense_Mutation_p.A180S|DISC1_ENST00000366633.3_Missense_Mutation_p.A530S|DISC1_ENST00000539444.1_Missense_Mutation_p.A530S	NM_001164542.1|NM_001164544.1	NP_001158014.1|NP_001158016.1	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	530	Interaction with TRAF3IP1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.|Required for localization to punctate cytoplasmic foci.				canonical Wnt signaling pathway (GO:0060070)|cell proliferation in forebrain (GO:0021846)|cellular protein localization (GO:0034613)|cerebral cortex radially oriented cell migration (GO:0021799)|microtubule cytoskeleton organization (GO:0000226)|mitochondrial calcium ion homeostasis (GO:0051560)|neuron migration (GO:0001764)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neuron projection development (GO:0010975)|regulation of synapse maturation (GO:0090128)|TOR signaling (GO:0031929)	cell junction (GO:0030054)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CCTGGCCTCAGCCGGTCAGAT	0.592																																																	0													39.0	32.0	34.0					1																	231906770		2203	4300	6503	SO:0001583	missense	0			AF222980	CCDS31055.1, CCDS31056.1, CCDS53482.1, CCDS53483.1, CCDS53484.1, CCDS59205.1, CCDS59206.1, CCDS59207.1	1q42.1	2008-02-05			ENSG00000162946	ENSG00000162946			2888	protein-coding gene	gene with protein product		605210				10814723	Standard	NM_001164550		Approved		uc010pxh.2	Q9NRI5	OTTHUMG00000037835	ENST00000602281.1:c.1588G>T	1.37:g.231906770G>T	ENSP00000473425:p.Ala530Ser		A6NLH2|C4P091|C4P095|C4P0A1|C4P0A3|C4P0B3|C4P0B6|C4P0C1|C9J6D0|O75045|Q5VT44|Q5VT45|Q8IXJ0|Q8IXJ1|Q9BX19|Q9NRI3|Q9NRI4	Missense_Mutation	SNP	superfamily_Prefoldin	p.A530S	ENST00000602281.1	37	c.1588	CCDS59205.1	1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025158	0.54683	.	.	ENSG00000162946	ENST00000439617;ENST00000366637;ENST00000366636;ENST00000366638;ENST00000535983;ENST00000537876;ENST00000366633;ENST00000539444;ENST00000295051;ENST00000535944	T;T;T;T;T;T;T;T	0.12569	3.09;2.9;2.9;2.69;3.08;2.71;2.7;2.67	5.15	4.17	0.49024	.	0.135586	0.50627	D	0.000117	T	0.20333	0.0489	M	0.62723	1.935	0.09310	N	1	P;P;P;P;P;P;P;P;P;P;P;P;P;P;D;P;D;P	0.55605	0.778;0.778;0.897;0.635;0.731;0.753;0.577;0.946;0.883;0.883;0.754;0.883;0.883;0.734;0.972;0.734;0.972;0.754	B;B;P;B;B;B;B;B;B;B;B;B;B;B;P;B;P;B	0.50314	0.375;0.397;0.485;0.244;0.188;0.349;0.188;0.41;0.272;0.272;0.417;0.272;0.272;0.302;0.637;0.302;0.637;0.417	T	0.07252	-1.0782	10	0.28530	T	0.3	-17.8875	10.5536	0.45103	0.0:0.0:0.7114:0.2886	.	562;562;530;530;530;530;530;180;530;530;530;530;530;530;530;530;530;530	C4P096;E2QRA4;C4P0A3;C4P098;C4P0A1;C4P0A4;A6NLH2;C4P0C1;C4P0A5;C4P095;C4P0B6;C4P0C4;C4P0B1;A7E2W8;Q5T409;Q9NRI5-2;Q9NRI5;Q9NRI5-3	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;DISC1_HUMAN;.	S	530;530;530;562;530;530;530;530;530;530	ENSP00000403888:A530S;ENSP00000355596:A530S;ENSP00000443996:A530S;ENSP00000440909:A530S;ENSP00000355593:A530S;ENSP00000440953:A530S;ENSP00000295051:A530S;ENSP00000441193:A530S	ENSP00000295051:A530S	A	+	1	0	DISC1	229973393	0.957000	0.32711	0.052000	0.19188	0.805000	0.45488	2.858000	0.48356	2.670000	0.90874	0.455000	0.32223	GCC	DISC1	-	superfamily_Prefoldin	ENSG00000162946		0.592	DISC1-019	KNOWN	basic|appris_candidate|CCDS	protein_coding	DISC1	HGNC	protein_coding	OTTHUMT00000467451.1		0.00	49	0	G	NM_018662		231906770	+1			no_errors	ENST00000439617	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.166	T
DNAAF1	123872	genome.wustl.edu	37	16	84209698	84209698	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr16:84209698C>T	ENST00000378553.5	+	11	1982	c.1858C>T	c.(1858-1860)Ccc>Tcc	p.P620S	DNAAF1_ENST00000563818.1_3'UTR	NM_178452.4	NP_848547.4	Q8NEP3	DAAF1_HUMAN	dynein, axonemal, assembly factor 1	620					axonemal dynein complex assembly (GO:0070286)|cilium morphogenesis (GO:0060271)|cilium movement (GO:0003341)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|inner dynein arm assembly (GO:0036159)|left/right pattern formation (GO:0060972)|lung development (GO:0030324)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)|regulation of cilium beat frequency (GO:0003356)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dynein binding (GO:0045502)			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						GGCTCGGGTGCCCTTCACAGA	0.498											OREG0023983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													45.0	44.0	44.0					16																	84209698		2200	4300	6500	SO:0001583	missense	0			BC024009	CCDS10943.2	16q24.1	2012-05-03	2011-06-09	2011-06-09	ENSG00000154099	ENSG00000154099			30539	protein-coding gene	gene with protein product	"""outer row dynein assembly 7 homolog (Chlamydomonas)"""	613190	"""leucine rich repeat containing 50"""	LRRC50		19944405	Standard	NM_178452		Approved	FLJ25330, ODA7, CILD13	uc002fhl.4	Q8NEP3	OTTHUMG00000128517	ENST00000378553.5:c.1858C>T	16.37:g.84209698C>T	ENSP00000367815:p.Pro620Ser	1227	B4DJA3|Q69YI8|Q69YJ0|Q69YW5|Q96LP3|Q96MB6	Missense_Mutation	SNP	NULL	p.P620S	ENST00000378553.5	37	c.1858	CCDS10943.2	16	.	.	.	.	.	.	.	.	.	.	C	15.19	2.760019	0.49468	.	.	ENSG00000154099	ENST00000378553	T	0.48201	0.82	5.0	3.06	0.35304	.	0.536026	0.18074	N	0.152506	T	0.48295	0.1492	L	0.54323	1.7	0.26117	N	0.980607	D;D	0.56287	0.971;0.975	P;P	0.49752	0.621;0.59	T	0.39961	-0.9588	10	0.66056	D	0.02	-3.9823	7.7046	0.28642	0.0:0.8119:0.0:0.1881	.	384;620	Q8NEP3-2;Q8NEP3	.;DAAF1_HUMAN	S	620	ENSP00000367815:P620S	ENSP00000367815:P620S	P	+	1	0	DNAAF1	82767199	0.066000	0.20996	0.014000	0.15608	0.027000	0.11550	1.973000	0.40550	0.694000	0.31654	0.563000	0.77884	CCC	DNAAF1	-	NULL	ENSG00000154099		0.498	DNAAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAAF1	HGNC	protein_coding	OTTHUMT00000250328.3		0.00	45	0	C	NM_178452		84209698	+1			no_errors	ENST00000378553	ensembl	human	known	74_37	missense	7.04	66	5	SNP	0.044	T
DOCK1	1793	genome.wustl.edu	37	10	129216786	129216786	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:129216786G>T	ENST00000280333.6	+	45	4719	c.4610G>T	c.(4609-4611)gGc>gTc	p.G1537V		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1537	DHR-2.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GTCATGGGGGGCTTCGCAAAC	0.602																																																	0													55.0	66.0	62.0					10																	129216786		2200	4300	6500	SO:0001583	missense	0			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4610G>T	10.37:g.129216786G>T	ENSP00000280333:p.Gly1537Val		A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain	p.G1537V	ENST00000280333.6	37	c.4610		10	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412668	0.62511	.	.	ENSG00000150760	ENST00000280333	T	0.72835	-0.69	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	D	0.89086	0.6615	H	0.95224	3.64	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92450	0.5969	10	0.87932	D	0	.	18.0621	0.89380	0.0:0.0:1.0:0.0	.	1537;1603;1537	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	V	1537	ENSP00000280333:G1537V	ENSP00000280333:G1537V	G	+	2	0	DOCK1	129106776	1.000000	0.71417	0.613000	0.29037	0.300000	0.27592	9.595000	0.98260	2.492000	0.84095	0.555000	0.69702	GGC	DOCK1	-	pfam_DOCK_C,superfamily_Cyt_c-like_dom	ENSG00000150760		0.602	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	-	0.00	37	0	G	NM_001380		129216786	+1	tier1	-	no_errors	ENST00000280333	ensembl	human	known	74_37	missense	12.12	29	4	SNP	1.000	T
DOCK2	1794	genome.wustl.edu	37	5	169507216	169507216	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:169507216C>T	ENST00000256935.8	+	50	5296	c.5216C>T	c.(5215-5217)gCg>gTg	p.A1739V	DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.A800V|DOCK2_ENST00000520908.1_Missense_Mutation_p.A1231V	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1739					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCGGAGCATGCGGCCATCCCC	0.557																																																	0													137.0	113.0	121.0					5																	169507216		2203	4300	6503	SO:0001583	missense	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.5216C>T	5.37:g.169507216C>T	ENSP00000256935:p.Ala1739Val		Q2M3I0|Q96AK7	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.A1739V	ENST00000256935.8	37	c.5216	CCDS4371.1	5	.	.	.	.	.	.	.	.	.	.	C	3.784	-0.045011	0.07452	.	.	ENSG00000134516	ENST00000256935;ENST00000520908;ENST00000540750	T;T;T	0.08102	3.75;3.4;3.13	5.23	-3.28	0.05033	.	2.046590	0.01873	N	0.037376	T	0.05227	0.0139	N	0.14661	0.345	0.09310	N	1	B;B;B	0.09022	0.0;0.002;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.37549	-0.9701	10	0.23891	T	0.37	.	6.9851	0.24723	0.0:0.3734:0.2067:0.4199	.	1231;295;1739	E7ERW7;B3KY14;Q92608	.;.;DOCK2_HUMAN	V	1739;1231;800	ENSP00000256935:A1739V;ENSP00000429283:A1231V;ENSP00000438827:A800V	ENSP00000256935:A1739V	A	+	2	0	DOCK2	169439794	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.748000	0.04818	-0.583000	0.05921	-0.817000	0.03123	GCG	DOCK2	-	NULL	ENSG00000134516		0.557	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2		0.00	53	0	C	NM_004946		169507216	+1			no_errors	ENST00000256935	ensembl	human	known	74_37	missense	6.67	56	4	SNP	0.000	T
DOT1L	84444	genome.wustl.edu	37	19	2217008	2217008	+	Silent	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:2217008C>T	ENST00000398665.3	+	21	2499	c.2463C>T	c.(2461-2463)ggC>ggT	p.G821G	AC004490.1_ENST00000585593.1_RNA	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	821					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGTGCCTGGCAGCATGAAGC	0.662																																																	0													36.0	39.0	38.0					19																	2217008		2076	4200	6276	SO:0001819	synonymous_variant	0			AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2463C>T	19.37:g.2217008C>T			O60379|Q96JL1	Silent	SNP	pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met	p.G821	ENST00000398665.3	37	c.2463	CCDS42460.1	19	.	.	.	.	.	.	.	.	.	.	C	0.857	-0.736601	0.03111	.	.	ENSG00000104885	ENST00000440640	.	.	.	5.45	0.392	0.16288	.	.	.	.	.	T	0.32466	0.0830	.	.	.	0.22933	N	0.998549	.	.	.	.	.	.	T	0.28744	-1.0034	4	.	.	.	-3.5036	8.0639	0.30648	0.0:0.489:0.0:0.511	.	.	.	.	V	608	.	.	A	+	2	0	DOT1L	2168008	0.107000	0.21998	0.034000	0.17996	0.117000	0.20001	0.144000	0.16135	0.282000	0.22254	0.655000	0.94253	GCA	DOT1L	-	pirsf_Histone_H3-K79_MeTrfase_met	ENSG00000104885		0.662	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOT1L	HGNC	protein_coding	OTTHUMT00000318066.1		0.00	49	0	C	NM_032482		2217008	+1			no_errors	ENST00000398665	ensembl	human	known	74_37	silent	5.48	68	4	SNP	0.114	T
DPP6	1804	genome.wustl.edu	37	7	153750014	153750014	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:153750014G>A	ENST00000377770.3	+	1	250	c.109G>A	c.(109-111)Ggc>Agc	p.G37S	AC006019.3_ENST00000425591.1_RNA|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000406326.1_Missense_Mutation_p.G37S			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	37					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CGAGGAGGACGGCGGCGCAGG	0.791																																					NSCLC(125;1384 1783 2490 7422 34254)												0													6.0	8.0	7.0					7																	153750014		680	1560	2240	SO:0001583	missense	0			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.109G>A	7.37:g.153750014G>A	ENSP00000367001:p.Gly37Ser			Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.G37S	ENST00000377770.3	37	c.109		7	.	.	.	.	.	.	.	.	.	.	G	3.393	-0.123880	0.06795	.	.	ENSG00000130226	ENST00000406326;ENST00000377770	T	0.16073	2.37	2.73	1.78	0.24846	.	.	.	.	.	T	0.07728	0.0194	.	.	.	0.22489	N	0.999058	B;B	0.34181	0.0;0.44	B;B	0.22753	0.001;0.041	T	0.29088	-1.0023	8	0.19147	T	0.46	.	7.7391	0.28831	0.1396:0.0:0.8604:0.0	.	37;37	P42658;Q8IYG9	DPP6_HUMAN;.	S	37	ENSP00000367001:G37S	ENSP00000367001:G37S	G	+	1	0	DPP6	153380947	0.983000	0.35010	0.465000	0.27155	0.023000	0.10783	2.289000	0.43523	1.225000	0.43566	0.549000	0.68633	GGC	DPP6	-	NULL	ENSG00000130226		0.791	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1		0.00	57	0	G	NM_130797		153750014	+1			no_errors	ENST00000377770	ensembl	human	known	74_37	missense	8.00	69	6	SNP	0.299	A
DRG1	4733	genome.wustl.edu	37	22	31795658	31795658	+	5'UTR	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr22:31795658G>T	ENST00000331457.4	+	0	150				DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1						multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|polysome (GO:0005844)	GTP binding (GO:0005525)|identical protein binding (GO:0042802)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						AGGCCACAGGGTACTCGCCAC	0.587																																																	0													248.0	209.0	222.0					22																	31795658		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			AJ005940	CCDS13897.1	22q12.2	2010-02-26	2001-11-28		ENSG00000185721	ENSG00000185721			3029	protein-coding gene	gene with protein product		603952	"""developmentally regulated GTP-binding protein 1"""	NEDD3		7929244, 1449490	Standard	NM_004147		Approved		uc003aku.3	Q9Y295	OTTHUMG00000030792	ENST00000331457.4:c.-12G>T	22.37:g.31795658G>T			B2RDS8|Q6FGP8|Q8WW69|Q9UGF2	RNA	SNP	-	NULL	ENST00000331457.4	37	NULL	CCDS13897.1	22																																																																																			DRG1	-	-	ENSG00000185721		0.587	DRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRG1	HGNC	protein_coding	OTTHUMT00000075680.5	-	0.00	41	0	G	NM_004147		31795658	+1	tier1	-	no_errors	ENST00000433341	ensembl	human	known	74_37	rna	19.15	76	18	SNP	0.003	T
DSG2	1829	genome.wustl.edu	37	18	29099820	29099820	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr18:29099820C>T	ENST00000261590.8	+	3	345	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W	DSG2_ENST00000585206.1_Missense_Mutation_p.R46W	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	46			R -> Q (in ARVD10). {ECO:0000269|PubMed:16773573, ECO:0000269|PubMed:20031617}.		apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|regulation of heart rate by cardiac conduction (GO:0086091)|response to progesterone (GO:0032570)|ventricular cardiac muscle cell action potential (GO:0086005)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R46W(1)		breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCATTTAGTGCGGCAAAAGCG	0.428																																																	1	Substitution - Missense(1)	prostate(1)											70.0	71.0	70.0					18																	29099820		1866	4103	5969	SO:0001583	missense	0			Z26317	CCDS42423.1	18q12.1	2014-09-17				ENSG00000046604		"""Cadherins / Major cadherins"""	3049	protein-coding gene	gene with protein product		125671				1612610	Standard	NM_001943		Approved	CDHF5	uc002kwu.4	Q14126		ENST00000261590.8:c.136C>T	18.37:g.29099820C>T	ENSP00000261590:p.Arg46Trp		Q4KKU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin	p.R46W	ENST00000261590.8	37	c.136	CCDS42423.1	18	.	.	.	.	.	.	.	.	.	.	C	7.360	0.624592	0.14193	.	.	ENSG00000046604	ENST00000261590	T	0.79033	-1.23	5.21	2.3	0.28687	.	0.000000	0.35320	U	0.003296	D	0.90414	0.6999	H	0.94183	3.505	0.24316	N	0.995062	D	0.89917	1.0	D	0.91635	0.999	D	0.84583	0.0662	10	0.87932	D	0	.	13.9084	0.63850	0.6506:0.3494:0.0:0.0	.	46	Q14126	DSG2_HUMAN	W	46	ENSP00000261590:R46W	ENSP00000261590:R46W	R	+	1	2	DSG2	27353818	0.595000	0.26857	0.016000	0.15963	0.470000	0.32858	0.971000	0.29396	0.233000	0.21120	0.561000	0.74099	CGG	DSG2	-	NULL	ENSG00000046604		0.428	DSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG2	HGNC	protein_coding	OTTHUMT00000447506.1		0.00	67	0	C	NM_001943		29099820	+1			no_errors	ENST00000261590	ensembl	human	known	74_37	missense	5.08	56	3	SNP	0.195	T
DYX1C1	161582	genome.wustl.edu	37	15	55759242	55759242	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr15:55759242delT	ENST00000321149.3	-	5	890	c.523delA	c.(523-525)attfs	p.I175fs	DYX1C1_ENST00000448430.2_Frame_Shift_Del_p.I175fs|DYX1C1_ENST00000348518.3_Frame_Shift_Del_p.I175fs|DYX1C1_ENST00000380679.1_Frame_Shift_Del_p.I175fs|DYX1C1_ENST00000457155.2_Frame_Shift_Del_p.I175fs|DYX1C1-CCPG1_ENST00000565113.1_RNA	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	175					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)	p.I175fs*21(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		tctctctgaatttttttttgc	0.279																																																	1	Deletion - Frameshift(1)	ovary(1)							,,	58,4074		8,42,2016	49.0	42.0	45.0		,,	1.2	0.0	15		44	114,7900		12,90,3905	no	frameshift,frameshift,frameshift	DYX1C1	NM_130810.3,NM_001033560.1,NM_001033559.2	,,	20,132,5921	A1A1,A1R,RR		1.4225,1.4037,1.4161	,,	,,	55759242	172,11974	2140	4191	6331	SO:0001589	frameshift_variant	0				CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.523delA	15.37:g.55759242delT	ENSP00000323275:p.Ile175fs		Q6P5Y9|Q8N1S6	Frame_Shift_Del	DEL	pfam_TPR_1,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.I175fs	ENST00000321149.3	37	c.523	CCDS10154.1	15																																																																																			DYX1C1	-	superfamily_HSP20-like_chaperone	ENSG00000256061		0.279	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYX1C1	HGNC	protein_coding	OTTHUMT00000254976.1		0.00	36	0	T	NM_130810		55759242	-1	tier1		no_errors	ENST00000321149	ensembl	human	known	74_37	frame_shift_del	12.50	35	5	DEL	0.001	-
ELF1	1997	genome.wustl.edu	37	13	41517266	41517266	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr13:41517266G>T	ENST00000239882.3	-	7	942	c.628C>A	c.(628-630)Ctt>Att	p.L210I	ELF1_ENST00000442101.1_Missense_Mutation_p.L186I|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	210					cell differentiation (GO:0030154)|negative regulation of T cell receptor signaling pathway (GO:0050860)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine production (GO:0001817)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		AACTCCCAAAGATAAATTGTG	0.358																																																	0													52.0	52.0	52.0					13																	41517266		2203	4300	6503	SO:0001583	missense	0			M82882	CCDS9374.1	13q13	2008-07-18			ENSG00000120690	ENSG00000120690			3316	protein-coding gene	gene with protein product		189973				1545787	Standard	NM_001145353		Approved		uc001uxs.3	P32519	OTTHUMG00000016783	ENST00000239882.3:c.628C>A	13.37:g.41517266G>T	ENSP00000239882:p.Leu210Ile		B4E2I5|E9PDQ9|Q8N6F6|Q9UDE1	Missense_Mutation	SNP	pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	p.L210I	ENST00000239882.3	37	c.628	CCDS9374.1	13	.	.	.	.	.	.	.	.	.	.	G	24.5	4.539350	0.85917	.	.	ENSG00000120690	ENST00000442101;ENST00000239882	T;T	0.73152	-0.72;-0.72	5.66	5.66	0.87406	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (5);	0.000000	0.64402	D	0.000001	D	0.83885	0.5351	M	0.81341	2.54	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85604	0.1254	10	0.87932	D	0	.	13.0026	0.58685	0.0738:0.0:0.9262:0.0	.	186;210	E9PDQ9;P32519	.;ELF1_HUMAN	I	186;210	ENSP00000405580:L186I;ENSP00000239882:L210I	ENSP00000239882:L210I	L	-	1	0	ELF1	40415266	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.061000	0.89467	2.661000	0.90470	0.655000	0.94253	CTT	ELF1	-	pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom	ENSG00000120690		0.358	ELF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ELF1	HGNC	protein_coding	OTTHUMT00000044654.3		0.00	86	0	G	NM_172373		41517266	-1			no_errors	ENST00000239882	ensembl	human	known	74_37	missense	5.26	72	4	SNP	1.000	T
CTD-2012J19.3	0	genome.wustl.edu	37	5	1602846	1602846	+	lincRNA	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:1602846C>T	ENST00000605200.1	+	0	622				RP11-43F13.1_ENST00000507841.1_RNA																							AGGGAGTCCACGTGCCTGAAA	0.483																																																	0																																												0																															5.37:g.1602846C>T				RNA	SNP	-	NULL	ENST00000605200.1	37	NULL		5																																																																																			RP11-43F13.1	-	-	ENSG00000188002		0.483	CTD-2012J19.3-001	KNOWN	basic	lincRNA	ENSG00000188002	Clone_based_vega_gene	lincRNA	OTTHUMT00000469651.1	-	0.00	36	0	C			1602846	-1	tier1	-	no_errors	ENST00000507290	ensembl	human	known	74_37	rna	34.00	33	17	SNP	0.974	T
RP11-146E13.4	0	genome.wustl.edu	37	14	19856850	19856850	+	lincRNA	SNP	T	T	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:19856850T>G	ENST00000548109.1	+	0	72																											TGCTCTCATGTCATCTACAGC	0.333																																																	0																																												0																															14.37:g.19856850T>G				RNA	SNP	-	NULL	ENST00000548109.1	37	NULL		14																																																																																			CTD-2314B22.3	-	-	ENSG00000244306		0.333	RP11-146E13.4-001	KNOWN	basic	lincRNA	ENSG00000244306	Clone_based_vega_gene	lincRNA	OTTHUMT00000409408.1	-	0.00	87	0	T			19856850	-1	tier1	-	no_errors	ENST00000551334	ensembl	human	known	74_37	rna	34.85	43	23	SNP	1.000	G
AKAP13	11214	genome.wustl.edu	37	15	86287707	86287707	+	Intron	SNP	A	A	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr15:86287707A>G	ENST00000394518.2	+	37	8487				AKAP13_ENST00000394510.2_Intron|AKAP13_ENST00000560579.1_Intron|AKAP13_ENST00000361243.2_Intron|RP11-158M2.3_ENST00000558375.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TATTAACCAAATTTGTTCAGA	0.408																																					Melanoma(94;603 1453 3280 32295 32951)												0																																										SO:0001627	intron_variant	0			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.8393-152A>G	15.37:g.86287707A>G			Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	RNA	SNP	-	NULL	ENST00000394518.2	37	NULL	CCDS32319.1	15																																																																																			RP11-158M2.3	-	-	ENSG00000259407		0.408	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000259407	Clone_based_vega_gene	protein_coding	OTTHUMT00000417318.1	-	0.00	25	0	A	NM_007200		86287707	-1	tier1	-	no_errors	ENST00000558375	ensembl	human	known	74_37	rna	70.59	5	12	SNP	0.000	G
EPN3	55040	genome.wustl.edu	37	17	48618874	48618874	+	Silent	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:48618874G>T	ENST00000268933.3	+	9	1983	c.1404G>T	c.(1402-1404)acG>acT	p.T468T	RP11-94C24.8_ENST00000513017.1_RNA|EPN3_ENST00000537145.1_Silent_p.T496T|EPN3_ENST00000541226.1_3'UTR	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	468						clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	lipid binding (GO:0008289)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			AAAATGGCACGAAGGAGCCAG	0.582																																																	0													55.0	56.0	55.0					17																	48618874		2203	4300	6503	SO:0001819	synonymous_variant	0			AF324241	CCDS11570.1	17q21.33	2008-07-18				ENSG00000049283			18235	protein-coding gene	gene with protein product		607264				10951261, 11359770	Standard	NM_017957		Approved	FLJ20778, MGC129899	uc002ira.4	Q9H201		ENST00000268933.3:c.1404G>T	17.37:g.48618874G>T			A8K6J3|A8KAB2|Q9BVN6|Q9NWK2	Silent	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.T496	ENST00000268933.3	37	c.1488	CCDS11570.1	17																																																																																			EPN3	-	NULL	ENSG00000049283		0.582	EPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN3	HGNC	protein_coding	OTTHUMT00000367573.1		0.00	40	0	G	NM_017957		48618874	+1			no_errors	ENST00000537145	ensembl	human	known	74_37	silent	5.66	50	3	SNP	0.000	T
ERP27	121506	genome.wustl.edu	37	12	15068681	15068681	+	Intron	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:15068681G>T	ENST00000266397.2	-	6	1150				ERP27_ENST00000544881.1_5'UTR|ERP27_ENST00000540097.1_Intron	NM_152321.2	NP_689534.1	Q96DN0	ERP27_HUMAN	endoplasmic reticulum protein 27							endoplasmic reticulum (GO:0005783)				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						GGGATAAAGAGATACCTTGTA	0.363																																																	0																																										SO:0001627	intron_variant	0			AK056677	CCDS8670.1, CCDS73450.1	12p12.3	2011-10-19	2009-02-23	2007-03-26	ENSG00000139055	ENSG00000139055		"""Protein disulfide isomerases"""	26495	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 8"""	610642	"""chromosome 12 open reading frame 46"", ""endoplasmic reticulum protein 27 kDa"""	C12orf46		12975309, 16940051	Standard	XM_005253303		Approved	FLJ32115, ERp27, PDIA8	uc001rco.3	Q96DN0	OTTHUMG00000168741	ENST00000266397.2:c.577-61C>A	12.37:g.15068681G>T				RNA	SNP	-	NULL	ENST00000266397.2	37	NULL	CCDS8670.1	12																																																																																			ERP27	-	-	ENSG00000139055		0.363	ERP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP27	HGNC	protein_coding	OTTHUMT00000400868.1	-	0.00	32	0	G	NM_152321		15068681	-1	tier1	-	no_errors	ENST00000544881	ensembl	human	putative	74_37	rna	49.33	38	37	SNP	0.000	T
EXT1	2131	genome.wustl.edu	37	8	118812031	118812031	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr8:118812031G>T	ENST00000378204.2	-	11	2967	c.2161C>A	c.(2161-2163)Cag>Aag	p.Q721K		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	721					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular polysaccharide biosynthetic process (GO:0033692)|embryonic skeletal joint development (GO:0072498)|endoderm development (GO:0007492)|gastrulation (GO:0007369)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|mesoderm development (GO:0007498)|olfactory bulb development (GO:0021772)|ossification (GO:0001503)|protein glycosylation (GO:0006486)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	acetylglucosaminyltransferase activity (GO:0008375)|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)|glucuronosyltransferase activity (GO:0015020)|heparan sulfate N-acetylglucosaminyltransferase activity (GO:0042328)|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity (GO:0050509)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AGCCTCATCTGAGAGTGGATC	0.547			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Langer-Giedion syndrome;Hereditary Multiple Exostoses																														yes	Rec		Multiple Exostoses Type 1	8	8q24.11-q24.13	2131	multiple exostoses type 1 gene		M	0													86.0	83.0	84.0					8																	118812031		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II;HME, Hereditary Exostoses, Multiple Osteochondromatosis, Multiple Cartilaginous Exostoses	S79639	CCDS6324.1	8q24.11	2014-09-17	2013-03-01		ENSG00000182197	ENSG00000182197	2.4.1.224, 2.4.1.225	"""Exostosin glycosyltransferase family"""	3512	protein-coding gene	gene with protein product	"""Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase"""	608177	"""Langer-Giedion syndrome chromosome region"", ""exostoses (multiple) 1"", ""exostosin 1"""	LGCR, LGS			Standard	NM_000127		Approved	ttv	uc003yok.1	Q16394	OTTHUMG00000059718	ENST00000378204.2:c.2161C>A	8.37:g.118812031G>T	ENSP00000367446:p.Gln721Lys		B2R7V2|Q9BVI9	Missense_Mutation	SNP	pfam_HexNAc_Trfase_a,pfam_Exostosin	p.Q721K	ENST00000378204.2	37	c.2161	CCDS6324.1	8	.	.	.	.	.	.	.	.	.	.	G	31	5.069513	0.93950	.	.	ENSG00000182197	ENST00000378204	D	0.85773	-2.03	5.96	5.96	0.96718	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.052886	0.85682	D	0.000000	D	0.91835	0.7416	M	0.86420	2.815	0.80722	D	1	P	0.47253	0.892	P	0.52031	0.688	D	0.91828	0.5473	10	0.56958	D	0.05	-10.214	20.422	0.99049	0.0:0.0:1.0:0.0	.	721	Q16394	EXT1_HUMAN	K	721	ENSP00000367446:Q721K	ENSP00000367446:Q721K	Q	-	1	0	EXT1	118881212	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.832000	0.97577	0.655000	0.94253	CAG	EXT1	-	pfam_HexNAc_Trfase_a	ENSG00000182197		0.547	EXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXT1	HGNC	protein_coding	OTTHUMT00000132768.3		0.00	23	0	G	NM_000127		118812031	-1			no_errors	ENST00000378204	ensembl	human	known	74_37	missense	8.33	44	4	SNP	1.000	T
EYS	346007	genome.wustl.edu	37	6	65301788	65301788	+	Silent	SNP	G	G	T	rs202130794		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr6:65301788G>T	ENST00000370621.3	-	26	4498	c.3972C>A	c.(3970-3972)ctC>ctA	p.L1324L	EYS_ENST00000503581.1_Silent_p.L1324L|EYS_ENST00000370616.2_Silent_p.L1324L			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	1324					detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCAGTTCTTGGAGTAAGTAGC	0.433																																																	0													106.0	94.0	98.0					6																	65301788		692	1590	2282	SO:0001819	synonymous_variant	0				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.3972C>A	6.37:g.65301788G>T			A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Silent	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.L1324	ENST00000370621.3	37	c.3972		6																																																																																			EYS	-	NULL	ENSG00000188107		0.433	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	-	0.00	39	0	G	XM_294050		65301788	-1	tier1	-	no_errors	ENST00000370616	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.000	T
F8	2157	genome.wustl.edu	37	X	154157686	154157686	+	Frame_Shift_Del	DEL	T	T	-	rs387906455		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:154157686delT	ENST00000360256.4	-	14	4579	c.4379delA	c.(4378-4380)aatfs	p.N1461fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1461	B.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)	p.N1460fs*5(2)|p.N1460fs*2(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|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)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAAAGGTTATTTTTTTTGGC	0.413																																																	4	Deletion - Frameshift(2)|Insertion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(2)|breast(2)	GRCh37	CD910498	F8	D							86.0	84.0	85.0					X																	154157686		2203	4300	6503	SO:0001589	frameshift_variant	0			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.4379delA	X.37:g.154157686delT	ENSP00000353393:p.Asn1461fs		Q14286|Q5HY69	Frame_Shift_Del	DEL	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.N1460fs	ENST00000360256.4	37	c.4379	CCDS35457.1	X																																																																																			F8	-	NULL	ENSG00000185010		0.413	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4		0.00	41	0	T			154157686	-1	tier1		no_errors	ENST00000360256	ensembl	human	known	74_37	frame_shift_del	11.63	38	5	DEL	0.012	-
FAIM2	23017	genome.wustl.edu	37	12	50282986	50282986	+	Splice_Site	SNP	C	C	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:50282986C>G	ENST00000320634.3	-	10	746		c.e10-1		FAIM2_ENST00000550890.1_Splice_Site	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2						apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						TGAAGTCGAACTGTGGGGACA	0.577																																																	0													79.0	67.0	71.0					12																	50282986		2203	4300	6503	SO:0001630	splice_region_variant	0			AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 2"""	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.652-1G>C	12.37:g.50282986C>G			A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Splice_Site	SNP	-	e10-1	ENST00000320634.3	37	c.652-1	CCDS8791.1	12	.	.	.	.	.	.	.	.	.	.	C	16.09	3.024856	0.54683	.	.	ENSG00000135472	ENST00000320634;ENST00000550890;ENST00000550635;ENST00000552669;ENST00000552863	.	.	.	4.61	4.61	0.57282	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.9581	0.58442	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FAIM2	48569253	1.000000	0.71417	0.997000	0.53966	0.643000	0.38383	6.236000	0.72339	2.126000	0.65437	0.462000	0.41574	.	FAIM2	-	-	ENSG00000135472		0.577	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAIM2	HGNC	protein_coding	OTTHUMT00000405984.1		0.00	26	0	C	NM_012306	Intron	50282986	-1			no_errors	ENST00000320634	ensembl	human	known	74_37	splice_site	11.54	23	3	SNP	1.000	G
FAM230A	653203	genome.wustl.edu	37	22	20710075	20710075	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr22:20710075A>G	ENST00000434783.3	+	8	1991	c.1807A>G	c.(1807-1809)Agg>Ggg	p.R603G	USP41_ENST00000454608.2_Intron|USP41_ENST00000486536.2_Intron					family with sequence similarity 230, member A																		GTCGCTAACGAGGTCGCCGCC	0.701																																																	0																																										SO:0001583	missense	0			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.1807A>G	22.37:g.20710075A>G	ENSP00000463576:p.Arg603Gly			Missense_Mutation	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.R603G	ENST00000434783.3	37	c.1807		22																																																																																			FAM230A	-	superfamily_Kinase-like_dom	ENSG00000188280		0.701	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FAM230A	HGNC	protein_coding	OTTHUMT00000319609.4	-	0.00	54	0	A			20710075	+1	tier1	-	no_errors	ENST00000434783	ensembl	human	known	74_37	missense	23.89	86	27	SNP	0.000	G
FAM230A	653203	genome.wustl.edu	37	22	20710105	20710105	+	Missense_Mutation	SNP	A	A	T	rs555509398	byFrequency	TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr22:20710105A>T	ENST00000434783.3	+	8	2021	c.1837A>T	c.(1837-1839)Acg>Tcg	p.T613S	USP41_ENST00000454608.2_Intron|USP41_ENST00000486536.2_Intron					family with sequence similarity 230, member A																		GCTAACGAGGACGCCGCCCAC	0.716													N|||	49	0.00978435	0.003	0.0072	5008	,	,		13802	0.002		0.0139	False		,,,				2504	0.0245																0																																										SO:0001583	missense	0			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.1837A>T	22.37:g.20710105A>T	ENSP00000463576:p.Thr613Ser			Missense_Mutation	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.T613S	ENST00000434783.3	37	c.1837		22																																																																																			FAM230A	-	superfamily_Kinase-like_dom	ENSG00000188280		0.716	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	FAM230A	HGNC	protein_coding	OTTHUMT00000319609.4	-	0.00	60	0	A			20710105	+1	tier1	-	no_errors	ENST00000434783	ensembl	human	known	74_37	missense	15.84	85	16	SNP	0.237	T
FAM227A	646851	genome.wustl.edu	37	22	38995862	38995862	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr22:38995862G>T	ENST00000535113.1	-	14	1889	c.1286C>A	c.(1285-1287)cCt>cAt	p.P429H	FAM227A_ENST00000540952.1_5'UTR|FAM227A_ENST00000406767.2_Missense_Mutation_p.P424H|FAM227A_ENST00000355830.6_Missense_Mutation_p.P424H	NM_001013647.1	NP_001013669.1	F5H4B4	F227A_HUMAN	family with sequence similarity 227, member A	429																	CACAATCAGAGGGCTCTTCCC	0.448																																																	0													95.0	78.0	83.0					22																	38995862		692	1591	2283	SO:0001583	missense	0					22q13.1	2012-07-04			ENSG00000184949	ENSG00000184949			44197	protein-coding gene	gene with protein product							Standard	NM_001013647		Approved		uc011anw.1	F5H4B4	OTTHUMG00000151133	ENST00000535113.1:c.1286C>A	22.37:g.38995862G>T	ENSP00000445093:p.Pro429His		B0QY52|B7Z7C6|Q5TG08	Missense_Mutation	SNP	superfamily_Staphylcoagulase_N	p.P424H	ENST00000535113.1	37	c.1271		22	.	.	.	.	.	.	.	.	.	.	G	22.0	4.230575	0.79688	.	.	ENSG00000184949	ENST00000535113;ENST00000355830;ENST00000406767;ENST00000466655	D;D;D	0.84223	-1.82;-1.82;-1.82	5.08	5.08	0.68730	.	0.000000	0.53938	D	0.000059	D	0.91304	0.7258	M	0.70275	2.135	0.39966	D	0.974738	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92578	0.6072	10	0.87932	D	0	-15.1795	14.3193	0.66473	0.0:0.0:1.0:0.0	.	424;429	Q5TG08;F5H4B4	YV009_HUMAN;.	H	429;424;424;336	ENSP00000445093:P429H;ENSP00000348086:P424H;ENSP00000385758:P424H	ENSP00000348086:P424H	P	-	2	0	RP1-199H16.5	37325808	1.000000	0.71417	0.986000	0.45419	0.960000	0.62799	4.655000	0.61476	2.499000	0.84300	0.557000	0.71058	CCT	FAM227A	-	NULL	ENSG00000184949		0.448	FAM227A-202	KNOWN	basic|appris_principal	protein_coding	FAM227A	HGNC	protein_coding		-	0.00	31	0	G	NM_001013647		38995862	-1	tier1	-	no_errors	ENST00000406767	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.998	T
FANCM	57697	genome.wustl.edu	37	14	45667962	45667962	+	Missense_Mutation	SNP	G	G	C	rs201017015		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:45667962G>C	ENST00000267430.5	+	22	5917	c.5832G>C	c.(5830-5832)ttG>ttC	p.L1944F	FANCM_ENST00000542564.2_Missense_Mutation_p.L1918F	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1944	Interaction with FAAP24 and EME1.				DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CCGCAGATTTGCTAAAGGAAC	0.393								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													86.0	87.0	86.0					14																	45667962		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.5832G>C	14.37:g.45667962G>C	ENSP00000267430:p.Leu1944Phe		B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L1944F	ENST00000267430.5	37	c.5832	CCDS32070.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.35|18.35	3.604875|3.604875	0.66445|0.66445	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000554809|ENST00000267430;ENST00000542564;ENST00000556250;ENST00000555484	.|T;T;T	.|0.21543	.|2.02;2.06;2.0	5.7|5.7	2.87|2.87	0.33458|0.33458	.|DNA repair nuclease, XPF-type/Helicase (1);Restriction endonuclease, type II-like (1);	.|0.153542	.|0.44902	.|D	.|0.000405	T|T	0.42494|0.42494	0.1205|0.1205	M|M	0.76328|0.76328	2.33|2.33	0.37695|0.37695	D|D	0.923983|0.923983	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.85130	.|0.997;0.997	T|T	0.38457|0.38457	-0.9660|-0.9660	5|10	.|0.49607	.|T	.|0.09	.|.	9.729|9.729	0.40350|0.40350	0.2269:0.0:0.7731:0.0|0.2269:0.0:0.7731:0.0	.|.	.|1918;1944	.|B2RTQ9;Q8IYD8	.|.;FANCM_HUMAN	P|F	912|1944;1918;1460;70	.|ENSP00000267430:L1944F;ENSP00000442493:L1918F;ENSP00000452033:L1460F	.|ENSP00000267430:L1944F	A|L	+|+	1|3	0|2	FANCM|FANCM	44737712|44737712	0.996000|0.996000	0.38824|0.38824	0.997000|0.997000	0.53966|0.53966	0.998000|0.998000	0.95712|0.95712	1.400000|1.400000	0.34577|0.34577	0.323000|0.323000	0.23307|0.23307	0.650000|0.650000	0.86243|0.86243	GCT|TTG	FANCM	-	superfamily_Restrct_endonuc-II-like	ENSG00000187790		0.393	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	HGNC	protein_coding	OTTHUMT00000410474.1	-	0.00	67	0	G	XM_048128		45667962	+1	tier1	-	no_errors	ENST00000267430	ensembl	human	known	74_37	missense	24.29	52	17	SNP	1.000	C
FAT1	2195	genome.wustl.edu	37	4	187628047	187628047	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:187628047G>T	ENST00000441802.2	-	2	3144	c.2935C>A	c.(2935-2937)Ctc>Atc	p.L979I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	979	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCTCCACTGAGTTTATCCACA	0.478										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													152.0	148.0	149.0					4																	187628047		1939	4140	6079	SO:0001583	missense	0			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.2935C>A	4.37:g.187628047G>T	ENSP00000406229:p.Leu979Ile			Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.L979I	ENST00000441802.2	37	c.2935	CCDS47177.1	4	.	.	.	.	.	.	.	.	.	.	G	6.413	0.444282	0.12164	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.51574	0.7	4.67	4.67	0.58626	Cadherin (5);Cadherin-like (1);	0.147380	0.45361	D	0.000378	T	0.33089	0.0851	N	0.16790	0.44	0.50813	D	0.999891	P	0.39376	0.67	B	0.42771	0.397	T	0.04961	-1.0915	10	0.20046	T	0.44	.	10.4529	0.44533	0.0:0.1435:0.7082:0.1483	.	979	Q14517	FAT1_HUMAN	I	979	ENSP00000406229:L979I	ENSP00000260147:L979I	L	-	1	0	FAT1	187865041	1.000000	0.71417	0.993000	0.49108	0.010000	0.07245	3.107000	0.50329	2.579000	0.87056	0.491000	0.48974	CTC	FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000083857		0.478	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3		0.00	42	0	G	NM_005245		187628047	-1			no_errors	ENST00000441802	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.998	T
FAT2	2196	genome.wustl.edu	37	5	150924003	150924003	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:150924003C>A	ENST00000261800.5	-	9	6697	c.6685G>T	c.(6685-6687)Ggg>Tgg	p.G2229W		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2229	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCAAAGGCCCTGTTACTGTT	0.507																																																	0													124.0	121.0	122.0					5																	150924003		2203	4300	6503	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6685G>T	5.37:g.150924003C>A	ENSP00000261800:p.Gly2229Trp		O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.G2229W	ENST00000261800.5	37	c.6685	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885883	0.51908	.	.	ENSG00000086570	ENST00000261800	T	0.52754	0.65	5.48	5.48	0.80851	Cadherin (4);Cadherin-like (1);	0.000000	0.64402	D	0.000004	T	0.68705	0.3030	M	0.76838	2.35	0.43218	D	0.99509	D	0.89917	1.0	D	0.87578	0.998	T	0.72033	-0.4412	10	0.72032	D	0.01	.	13.6285	0.62181	0.0:0.9259:0.0:0.0741	.	2229	Q9NYQ8	FAT2_HUMAN	W	2229	ENSP00000261800:G2229W	ENSP00000261800:G2229W	G	-	1	0	FAT2	150904196	0.940000	0.31905	1.000000	0.80357	0.985000	0.73830	1.627000	0.37050	2.577000	0.86979	0.561000	0.74099	GGG	FAT2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000086570		0.507	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	-	0.00	67	0	C	NM_001447		150924003	-1	tier1	-	no_errors	ENST00000261800	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.912	A
FBXW2	26190	genome.wustl.edu	37	9	123538400	123538400	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:123538400G>T	ENST00000608872.1	-	5	977	c.790C>A	c.(790-792)Ctc>Atc	p.L264I	FBXW2_ENST00000493559.1_5'UTR|FBXW2_ENST00000340778.5_Missense_Mutation_p.L199I	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2	264					cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						TGCCCGGTGAGTGTGTTCAGG	0.512																																																	0													143.0	147.0	145.0					9																	123538400		2031	4186	6217	SO:0001583	missense	0			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.790C>A	9.37:g.123538400G>T	ENSP00000476369:p.Leu264Ile		B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L264I	ENST00000608872.1	37	c.790	CCDS43872.1	9	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683710	0.88639	.	.	ENSG00000119402	ENST00000373926;ENST00000340778;ENST00000444833;ENST00000453291	T;T;T	0.24151	1.93;1.87;1.93	5.18	5.18	0.71444	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.129967	0.53938	D	0.000059	T	0.31734	0.0806	M	0.73598	2.24	0.58432	D	0.999994	P;B;B	0.44816	0.844;0.267;0.062	B;B;B	0.37833	0.259;0.039;0.027	T	0.32375	-0.9909	10	0.62326	D	0.03	-3.8833	16.5457	0.84445	0.0:0.0:1.0:0.0	.	199;264;264	Q9UKT8-2;B2RAW3;Q9UKT8	.;.;FBXW2_HUMAN	I	264;199;264;135	ENSP00000363036:L264I;ENSP00000341161:L199I;ENSP00000398662:L135I	ENSP00000341161:L199I	L	-	1	0	FBXW2	122578221	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.794000	0.62482	2.562000	0.86427	0.563000	0.77884	CTC	FBXW2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000119402		0.512	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW2	HGNC	protein_coding	OTTHUMT00000053834.2	-	0.00	50	0	G			123538400	-1	tier1	-	no_errors	ENST00000608872	ensembl	human	known	74_37	missense	7.27	51	4	SNP	1.000	T
FGF9	2254	genome.wustl.edu	37	13	22275604	22275604	+	3'UTR	SNP	A	A	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr13:22275604A>G	ENST00000382353.5	+	0	1187				FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9						angiogenesis (GO:0001525)|cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic digestive tract development (GO:0048566)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|male gonad development (GO:0008584)|male sex determination (GO:0030238)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus (GO:0006606)|regulation of timing of cell differentiation (GO:0048505)|signal transduction (GO:0007165)|substantia nigra development (GO:0021762)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		TGAGCCCTTAAAAAAGTAACC	0.413																																					Melanoma(195;1939 2127 12623 13963 52730)												0													42.0	42.0	42.0					13																	22275604		2201	4297	6498	SO:0001624	3_prime_UTR_variant	0			D14838	CCDS9298.1	13q11-q12	2014-01-30	2013-06-18		ENSG00000102678	ENSG00000102678		"""Endogenous ligands"""	3687	protein-coding gene	gene with protein product	"""glia-activating factor"""	600921	"""fibroblast growth factor 9 (glia-activating factor)"""			8321227	Standard	NM_002010		Approved		uc001uog.2	P31371	OTTHUMG00000017412	ENST00000382353.5:c.*30A>G	13.37:g.22275604A>G			A8K427|Q3SY32	RNA	SNP	-	NULL	ENST00000382353.5	37	NULL	CCDS9298.1	13																																																																																			FGF9	-	-	ENSG00000102678		0.413	FGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF9	HGNC	protein_coding	OTTHUMT00000046002.2	-	0.00	40	0	A			22275604	+1	tier1	-	no_errors	ENST00000478546	ensembl	human	known	74_37	rna	44.68	26	21	SNP	1.000	G
FNBP1	23048	genome.wustl.edu	37	9	132687355	132687355	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:132687355T>C	ENST00000446176.2	-	9	1057	c.871A>G	c.(871-873)Atg>Gtg	p.M291V	FNBP1_ENST00000420781.1_Missense_Mutation_p.M291V|FNBP1_ENST00000355681.3_Missense_Mutation_p.M291V|FNBP1_ENST00000478129.1_5'UTR	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	291	Interaction with microtubules. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GTGCGCTTCATTGGCTGAGTG	0.428			T	MLL	AML																																			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													146.0	135.0	139.0					9																	132687355		1877	4120	5997	SO:0001583	missense	0			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.871A>G	9.37:g.132687355T>C	ENSP00000413625:p.Met291Val		O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain	p.M291V	ENST00000446176.2	37	c.871	CCDS48040.1	9	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500549	0.44455	.	.	ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000355681	T;T;T	0.18502	2.21;2.21;2.21	5.34	5.34	0.76211	.	0.039444	0.85682	D	0.000000	T	0.18045	0.0433	L	0.54323	1.7	0.80722	D	1	B;B;B;B;B;B;B	0.16396	0.008;0.017;0.001;0.005;0.017;0.014;0.001	B;B;B;B;B;B;B	0.22753	0.01;0.025;0.004;0.009;0.041;0.023;0.007	T	0.05599	-1.0875	10	0.11485	T	0.65	-42.1948	14.8033	0.69932	0.0:0.0:0.0:1.0	.	291;291;291;291;252;291;291	B7ZL12;B7ZL13;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3	.;.;.;.;.;.;FNBP1_HUMAN	V	291	ENSP00000413625:M291V;ENSP00000407548:M291V;ENSP00000347907:M291V	ENSP00000347907:M291V	M	-	1	0	FNBP1	131727176	1.000000	0.71417	0.952000	0.39060	0.991000	0.79684	5.824000	0.69279	2.146000	0.66826	0.379000	0.24179	ATG	FNBP1	-	NULL	ENSG00000187239		0.428	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP1	HGNC	protein_coding	OTTHUMT00000054630.2	-	0.00	62	0	T			132687355	-1	tier1	-	no_errors	ENST00000446176	ensembl	human	known	74_37	missense	60.56	28	43	SNP	0.998	C
FOXK1	221937	genome.wustl.edu	37	7	4798961	4798961	+	Silent	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:4798961G>A	ENST00000328914.4	+	7	1431	c.1431G>A	c.(1429-1431)caG>caA	p.Q477Q	FOXK1_ENST00000446823.1_Silent_p.Q314Q	NM_001037165.1	NP_001032242.1			forkhead box K1											breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TCAGCGCCCAGCCAGTGATCA	0.751																																																	0													16.0	18.0	17.0					7																	4798961		2187	4291	6478	SO:0001819	synonymous_variant	0			BK004104	CCDS34591.1	7p22	2006-12-15			ENSG00000164916	ENSG00000164916		"""Forkhead boxes"""	23480	protein-coding gene	gene with protein product						15202027	Standard	NM_001037165		Approved	IMAGE:5164497	uc003snc.1	P85037	OTTHUMG00000151739	ENST00000328914.4:c.1431G>A	7.37:g.4798961G>A				Silent	SNP	pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head	p.Q477	ENST00000328914.4	37	c.1431	CCDS34591.1	7																																																																																			FOXK1	-	NULL	ENSG00000164916		0.751	FOXK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXK1	HGNC	protein_coding	OTTHUMT00000323729.2	-	0.00	21	0	G			4798961	+1	tier1	-	no_errors	ENST00000328914	ensembl	human	known	74_37	silent	36.07	39	22	SNP	1.000	A
GABRA2	2555	genome.wustl.edu	37	4	46252353	46252353	+	Missense_Mutation	SNP	C	C	T	rs200987678		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:46252353C>T	ENST00000510861.1	-	10	1501	c.1328G>A	c.(1327-1329)aGa>aAa	p.R443K	GABRA2_ENST00000507069.1_Missense_Mutation_p.R503K|GABRA2_ENST00000514090.1_Missense_Mutation_p.R443K|GABRA2_ENST00000381620.4_Missense_Mutation_p.R443K|GABRA2_ENST00000356504.1_Missense_Mutation_p.R443K|GABRA2_ENST00000540012.1_Missense_Mutation_p.R448K			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	443					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|neurotransmitter transport (GO:0006836)|regulation of neurotransmitter levels (GO:0001505)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of synaptic vesicle membrane (GO:0030285)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R443K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	TACAGGTTCTCTGTTTAAATA	0.348																																																	1	Substitution - Missense(1)	lung(1)											80.0	86.0	84.0					4																	46252353		2202	4294	6496	SO:0001583	missense	0				CCDS3471.1	4p12	2012-06-22			ENSG00000151834	ENSG00000151834		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4076	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 2"""	137140					Standard	NM_000807		Approved		uc010igc.2	P47869	OTTHUMG00000044266	ENST00000510861.1:c.1328G>A	4.37:g.46252353C>T	ENSP00000421828:p.Arg443Lys		A8K0U7|B7Z1H8|Q59G14	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.R448K	ENST00000510861.1	37	c.1343	CCDS3471.1	4	.	.	.	.	.	.	.	.	.	.	C	13.90	2.376479	0.42105	.	.	ENSG00000151834	ENST00000510861;ENST00000514090;ENST00000381620;ENST00000356504;ENST00000540012;ENST00000507069	D;D;D;D;D;T	0.84070	-1.8;-1.8;-1.8;-1.8;-1.56;-0.5	5.85	5.85	0.93711	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.85682	D	0.000000	T	0.74435	0.3716	N	0.26130	0.795	0.58432	D	0.999998	B;B	0.31599	0.33;0.018	B;B	0.28784	0.094;0.015	T	0.70135	-0.4955	10	0.19590	T	0.45	.	19.1413	0.93446	0.0:1.0:0.0:0.0	.	448;443	B7Z1H8;P47869	.;GBRA2_HUMAN	K	443;443;443;443;448;503	ENSP00000421828:R443K;ENSP00000421300:R443K;ENSP00000371033:R443K;ENSP00000348897:R443K;ENSP00000444409:R448K;ENSP00000427603:R503K	ENSP00000348897:R443K	R	-	2	0	GABRA2	45947110	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.087000	0.71362	2.767000	0.95098	0.655000	0.94253	AGA	GABRA2	-	superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt	ENSG00000151834		0.348	GABRA2-005	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	GABRA2	HGNC	protein_coding	OTTHUMT00000360848.2	-	0.00	72	0	C			46252353	-1	tier1	rs200987678	no_errors	ENST00000540012	ensembl	human	known	74_37	missense	16.00	42	8	SNP	1.000	T
FSTL5	56884	genome.wustl.edu	37	4	162307332	162307332	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:162307332T>A	ENST00000306100.5	-	16	2547	c.2111A>T	c.(2110-2112)cAc>cTc	p.H704L	FSTL5_ENST00000536695.1_Missense_Mutation_p.H703L|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000427802.2_Missense_Mutation_p.H694L|FSTL5_ENST00000379164.4_Missense_Mutation_p.H703L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	704						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GACAAGGTAGTGGCCATCTGG	0.453																																																	0													120.0	110.0	113.0					4																	162307332		2203	4300	6503	SO:0001583	missense	0			BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.2111A>T	4.37:g.162307332T>A	ENSP00000305334:p.His704Leu		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom	p.H704L	ENST00000306100.5	37	c.2111	CCDS3802.1	4	.	.	.	.	.	.	.	.	.	.	T	18.10	3.548701	0.65311	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.7	5.7	0.88788	WD40/YVTN repeat-like-containing domain (1);	0.097634	0.64402	D	0.000001	T	0.38188	0.1031	M	0.70275	2.135	0.80722	D	1	P;P;P	0.41420	0.749;0.696;0.749	B;B;B	0.40602	0.334;0.268;0.269	T	0.37641	-0.9697	10	0.72032	D	0.01	.	15.1464	0.72657	0.0:0.0:0.0:1.0	.	694;703;704	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	L	704;703;694;703	ENSP00000305334:H704L;ENSP00000368462:H703L;ENSP00000389270:H694L;ENSP00000440409:H703L	ENSP00000305334:H704L	H	-	2	0	FSTL5	162526782	1.000000	0.71417	0.972000	0.41901	0.981000	0.71138	2.433000	0.44793	2.176000	0.68965	0.533000	0.62120	CAC	FSTL5	-	NULL	ENSG00000168843		0.453	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FSTL5	HGNC	protein_coding	OTTHUMT00000364773.2	-	0.00	31	0	T	NM_020116		162307332	-1	tier1	-	no_errors	ENST00000306100	ensembl	human	known	74_37	missense	48.78	21	20	SNP	1.000	A
GALNT15	117248	genome.wustl.edu	37	3	16250103	16250103	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:16250103G>A	ENST00000339732.5	+	4	1508	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	GALNT15_ENST00000437509.1_Nonsense_Mutation_p.W335*	NM_054110.4	NP_473451.3	Q8N3T1	GLT15_HUMAN	polypeptide N-acetylgalactosaminyltransferase 15	335					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TGTTGGACTGGAAGCTGGATT	0.537																																																	0													139.0	129.0	132.0					3																	16250103		2203	4300	6503	SO:0001587	stop_gained	0			AY358443	CCDS33711.1	3p25.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000131386	ENSG00000131386	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	21531	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 15"""	615131	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 2"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"""	GALNTL2		12975309, 14702039, 15147861	Standard	NM_054110		Approved	GALNT7, pp-GalNAc-T15	uc003car.4	Q8N3T1	OTTHUMG00000156893	ENST00000339732.5:c.1005G>A	3.37:g.16250103G>A	ENSP00000344260:p.Trp335*		A6NMN1|B2R638|F1LIP6|Q86T60|Q96C46|Q96DJ5	Nonsense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.W335*	ENST00000339732.5	37	c.1005	CCDS33711.1	3	.	.	.	.	.	.	.	.	.	.	G	41	9.072233	0.99057	.	.	ENSG00000131386	ENST00000339732;ENST00000437509	.	.	.	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.0212	0.97504	0.0:0.0:1.0:0.0	.	.	.	.	X	335	.	ENSP00000344260:W335X	W	+	3	0	GALNTL2	16225107	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.804000	0.99143	2.735000	0.93741	0.561000	0.74099	TGG	GALNT15	-	pfam_Glyco_trans_2	ENSG00000131386		0.537	GALNT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT15	HGNC	protein_coding	OTTHUMT00000346483.2	-	0.00	124	0	G	NM_054110		16250103	+1	tier1	-	no_errors	ENST00000339732	ensembl	human	known	74_37	nonsense	28.44	78	31	SNP	1.000	A
GOLGA8R	101059918	genome.wustl.edu	37	15	30699678	30699678	+	Missense_Mutation	SNP	G	G	C	rs376518315		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr15:30699678G>C	ENST00000327271.10	-	12	927	c.928C>G	c.(928-930)Ctg>Gtg	p.L310V	GOLGA8R_ENST00000544495.1_Missense_Mutation_p.L151V|RN7SL196P_ENST00000478496.2_RNA					golgin A8 family, member R																		TCCTTCCTCAGGTGCTGCAGC	0.552																																																	0																																										SO:0001583	missense	0				CCDS61578.1, CCDS61575.1	15q13.2	2014-01-02			ENSG00000186399	ENSG00000186399			44407	protein-coding gene	gene with protein product							Standard	NM_001282484		Approved			I6L899	OTTHUMG00000175646	ENST00000327271.10:c.928C>G	15.37:g.30699678G>C	ENSP00000323217:p.Leu310Val			Missense_Mutation	SNP	NULL	p.L151V	ENST00000327271.10	37	c.451		15	.	.	.	.	.	.	.	.	.	.	.	12.65	2.002508	0.35320	.	.	ENSG00000186399	ENST00000327271;ENST00000544495	T;T	0.38240	1.15;1.15	0.842	0.842	0.18927	.	.	.	.	.	T	0.47893	0.1470	M	0.79343	2.45	.	.	.	.	.	.	.	.	.	T	0.60362	-0.7278	6	0.72032	D	0.01	.	7.5703	0.27904	0.0:0.0:1.0:0.0	.	.	.	.	V	310;151	ENSP00000323217:L310V;ENSP00000440596:L151V	ENSP00000323217:L310V	L	-	1	2	AC019322.1	28486970	0.874000	0.30092	0.324000	0.25361	0.224000	0.24922	1.131000	0.31406	0.758000	0.33059	0.175000	0.17021	CTG	GOLGA8R	-	NULL	ENSG00000186399		0.552	GOLGA8R-001	NOVEL	basic|appris_candidate_longest	protein_coding	GOLGA8R	HGNC	protein_coding	OTTHUMT00000430706.1	-	0.00	8	0	G	NM_001282484		30699678	-1	tier1	-	no_errors	ENST00000544495	ensembl	human	known	74_37	missense	61.54	5	8	SNP	0.988	C
GRIK4	2900	genome.wustl.edu	37	11	120831696	120831696	+	Silent	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:120831696G>T	ENST00000527524.2	+	17	2240	c.1953G>T	c.(1951-1953)gtG>gtT	p.V651V	GRIK4_ENST00000438375.2_Silent_p.V651V	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	651					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GCATGGATGTGCCCATTGAGT	0.527																																																	0													140.0	111.0	121.0					11																	120831696		2203	4299	6502	SO:0001819	synonymous_variant	0			S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1953G>T	11.37:g.120831696G>T			A8K9L1	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.V651	ENST00000527524.2	37	c.1953	CCDS8433.1	11																																																																																			GRIK4	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000149403		0.527	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	-	0.00	52	0	G	NM_014619		120831696	+1	tier1	-	no_errors	ENST00000527524	ensembl	human	known	74_37	silent	8.16	45	4	SNP	1.000	T
GRIN3B	116444	genome.wustl.edu	37	19	1004830	1004830	+	Silent	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:1004830C>T	ENST00000234389.3	+	3	1349	c.1330C>T	c.(1330-1332)Ctg>Ttg	p.L444L	GRIN3B_ENST00000588335.1_3'UTR|AC004528.4_ENST00000588380.1_RNA	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	444					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|protein insertion into membrane (GO:0051205)|regulation of calcium ion transport (GO:0051924)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|neurotransmitter receptor activity (GO:0030594)			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Acamprosate(DB00659)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Secobarbital(DB00418)	AGCGGGGCAGCTGTGCCTGGA	0.662																																																	0													50.0	49.0	49.0					19																	1004830		2203	4297	6500	SO:0001819	synonymous_variant	0				CCDS32861.1	19p13.3	2014-05-06			ENSG00000116032	ENSG00000116032		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16768	protein-coding gene	gene with protein product		606651					Standard	XM_003403700		Approved	GluN3B	uc002lqo.1	O60391	OTTHUMG00000181904	ENST00000234389.3:c.1330C>T	19.37:g.1004830C>T			Q5EAK7|Q7RTW9	Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L444	ENST00000234389.3	37	c.1330	CCDS32861.1	19																																																																																			GRIN3B	-	NULL	ENSG00000116032		0.662	GRIN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3B	HGNC	protein_coding	OTTHUMT00000103923.2	-	0.00	36	0	C			1004830	+1	tier1	-	no_errors	ENST00000234389	ensembl	human	known	74_37	silent	10.00	36	4	SNP	1.000	T
HAUS4	54930	genome.wustl.edu	37	14	23417087	23417087	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:23417087G>A	ENST00000206474.7	-	7	950	c.698C>T	c.(697-699)gCt>gTt	p.A233V	HAUS4_ENST00000342454.8_Missense_Mutation_p.A188V|HAUS4_ENST00000347758.2_Intron|HAUS4_ENST00000541587.1_Missense_Mutation_p.A233V|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000554446.1_Intron|HAUS4_ENST00000555367.1_Missense_Mutation_p.A188V|HAUS4_ENST00000490506.1_Missense_Mutation_p.A109V|RP11-298I3.5_ENST00000555074.1_Silent_p.C62C|HAUS4_ENST00000555986.1_Missense_Mutation_p.A188V|HAUS4_ENST00000397409.4_Intron|RP11-298I3.1_ENST00000548819.1_RNA			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	233					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						CTGGGAGTAAGCAGCACTCTT	0.542																																																	0													121.0	111.0	114.0					14																	23417087		2203	4300	6503	SO:0001583	missense	0			AK000431	CCDS9580.1, CCDS53886.1	14q11.1	2011-10-24	2009-04-20	2009-04-20	ENSG00000092036	ENSG00000092036		"""HAUS augmin-like complex subunits"""	20163	protein-coding gene	gene with protein product		613431	"""chromosome 14 open reading frame 94"""	C14orf94		19427217	Standard	NM_017815		Approved	FLJ20424	uc001wht.3	Q9H6D7	OTTHUMG00000028710	ENST00000206474.7:c.698C>T	14.37:g.23417087G>A	ENSP00000206474:p.Ala233Val		B7WP17|D3DS34|Q86T15|Q86T16|Q86U43|Q9NX59	Missense_Mutation	SNP	NULL	p.A233V	ENST00000206474.7	37	c.698	CCDS9580.1	14	.	.	.	.	.	.	.	.	.	.	G	3.526	-0.096734	0.07010	.	.	ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000092036;ENSG00000259132	ENST00000206474;ENST00000490506;ENST00000541587;ENST00000342454;ENST00000555367;ENST00000555986;ENST00000555040;ENST00000555074	.	.	.	5.24	4.33	0.51752	.	0.363687	0.31290	N	0.007920	T	0.26846	0.0657	N	0.08118	0	0.80722	D	1	B;B	0.17268	0.008;0.021	B;B	0.21546	0.022;0.035	T	0.15838	-1.0423	9	0.02654	T	1	-1.7281	10.3007	0.43650	0.0948:0.0:0.9052:0.0	.	188;233	Q9H6D7-4;Q9H6D7	.;HAUS4_HUMAN	V	233;109;233;188;188;188;233;10	.	ENSP00000206474:A233V	A	-	2	0	RP11-298I3.5;HAUS4	22486927	1.000000	0.71417	0.998000	0.56505	0.119000	0.20118	1.458000	0.35223	2.456000	0.83038	0.585000	0.79938	GCT	HAUS4	-	NULL	ENSG00000092036		0.542	HAUS4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS4	HGNC	protein_coding	OTTHUMT00000071680.3	-	0.00	28	0	G			23417087	-1	tier1	-	no_errors	ENST00000206474	ensembl	human	known	74_37	missense	38.46	32	20	SNP	0.999	A
HBP1	26959	genome.wustl.edu	37	7	106836591	106836591	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:106836591T>A	ENST00000222574.4	+	9	1566	c.1380T>A	c.(1378-1380)gaT>gaA	p.D460E	CTA-363E19.2_ENST00000607036.1_RNA|HBP1_ENST00000468410.1_Missense_Mutation_p.D460E|HBP1_ENST00000485846.1_Missense_Mutation_p.D460E|HBP1_ENST00000461963.1_3'UTR	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	460					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						CAGGGAAAGATAACAGGTAAA	0.323																																																	0													37.0	39.0	38.0					7																	106836591		2203	4300	6503	SO:0001583	missense	0			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.1380T>A	7.37:g.106836591T>A	ENSP00000222574:p.Asp460Glu		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom	p.D460E	ENST00000222574.4	37	c.1380	CCDS5741.1	7	.	.	.	.	.	.	.	.	.	.	T	24.0	4.484441	0.84854	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D;D	0.97772	-4.53;-4.53;-4.53;-3.27	5.85	5.85	0.93711	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.97486	0.9177	L	0.39085	1.19	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	0.998;0.996;1.0	D	0.97660	1.0160	10	0.72032	D	0.01	-0.5233	10.8478	0.46753	0.0:0.0787:0.0:0.9213	.	470;460;460	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	E	460;460;460;452	ENSP00000420500:D460E;ENSP00000222574:D460E;ENSP00000418738:D460E;ENSP00000418017:D452E	ENSP00000222574:D460E	D	+	3	2	HBP1	106623827	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.206000	0.42779	2.238000	0.73509	0.528000	0.53228	GAT	HBP1	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000105856		0.323	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBP1	HGNC	protein_coding	OTTHUMT00000349297.1	-	0.00	47	0	T	NM_012257		106836591	+1	tier1	-	no_errors	ENST00000222574	ensembl	human	known	74_37	missense	24.62	49	16	SNP	1.000	A
HBP1	26959	genome.wustl.edu	37	7	106836593	106836593	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:106836593A>G	ENST00000222574.4	+	9	1568	c.1382A>G	c.(1381-1383)aAc>aGc	p.N461S	CTA-363E19.2_ENST00000607036.1_RNA|HBP1_ENST00000468410.1_Missense_Mutation_p.N461S|HBP1_ENST00000485846.1_Missense_Mutation_p.N461S|HBP1_ENST00000461963.1_3'UTR	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	461					cell cycle arrest (GO:0007050)|positive regulation of potassium ion transport (GO:0043268)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						GGGAAAGATAACAGGTAAAAA	0.323																																																	0													36.0	38.0	37.0					7																	106836593		2203	4300	6503	SO:0001583	missense	0			BC017069	CCDS5741.1	7q22-q31	2003-10-08			ENSG00000105856	ENSG00000105856			23200	protein-coding gene	gene with protein product						9030690, 11500377	Standard	NM_001244262		Approved		uc011klv.2	O60381	OTTHUMG00000157642	ENST00000222574.4:c.1382A>G	7.37:g.106836593A>G	ENSP00000222574:p.Asn461Ser		B3KVB7|Q8TBM1|Q8TE93|Q96AJ2	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_HMG_box_dom,superfamily_Ataxin-1_HBP1,superfamily_HMG_box_dom,smart_Ataxin_AXH_dom,smart_HMG_box_dom,pfscan_Ataxin-1_HBP1,pfscan_HMG_box_dom	p.N461S	ENST00000222574.4	37	c.1382	CCDS5741.1	7	.	.	.	.	.	.	.	.	.	.	A	25.9	4.687303	0.88639	.	.	ENSG00000105856	ENST00000468410;ENST00000222574;ENST00000485846;ENST00000498408	D;D;D;D	0.98150	-4.75;-4.75;-4.75;-3.35	5.65	5.65	0.86999	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.85682	D	0.000000	D	0.98466	0.9489	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.998;0.997;0.999	D	0.99821	1.1047	10	0.87932	D	0	-7.6649	15.8677	0.79076	1.0:0.0:0.0:0.0	.	471;461;461	B4DJ36;O60381-3;O60381	.;.;HBP1_HUMAN	S	461;461;461;453	ENSP00000420500:N461S;ENSP00000222574:N461S;ENSP00000418738:N461S;ENSP00000418017:N453S	ENSP00000222574:N461S	N	+	2	0	HBP1	106623829	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.281000	0.95811	2.154000	0.67381	0.528000	0.53228	AAC	HBP1	-	pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000105856		0.323	HBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBP1	HGNC	protein_coding	OTTHUMT00000349297.1	-	0.00	47	0	A	NM_012257		106836593	+1	tier1	-	no_errors	ENST00000222574	ensembl	human	known	74_37	missense	25.40	47	16	SNP	1.000	G
HECTD2	143279	genome.wustl.edu	37	10	93250956	93250956	+	Splice_Site	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:93250956G>A	ENST00000298068.5	+	12	1285		c.e12-1		HECTD2_ENST00000446394.1_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site|HECTD2_ENST00000536715.1_Splice_Site	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TATTTAATCAGCAAAGTCTGG	0.284																																					NSCLC(12;376 469 1699 39910 41417)												0													37.0	40.0	39.0					10																	93250956		2202	4280	6482	SO:0001630	splice_region_variant	0			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1192-1G>A	10.37:g.93250956G>A			Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Splice_Site	SNP	-	e13-1	ENST00000298068.5	37	c.1204-1	CCDS7414.1	10	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228348	0.79576	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000371667	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6169	0.91305	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HECTD2	93240936	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.017000	0.93651	2.447000	0.82792	0.655000	0.94253	.	HECTD2	-	-	ENSG00000165338		0.284	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD2	HGNC	protein_coding	OTTHUMT00000098620.1		0.00	135	0	G		Intron	93250956	+1			no_errors	ENST00000446394	ensembl	human	known	74_37	splice_site	6.25	60	4	SNP	1.000	A
HECTD4	283450	genome.wustl.edu	37	12	112688861	112688861	+	Silent	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:112688861G>T	ENST00000430131.2	-	23	3509	c.2364C>A	c.(2362-2364)tcC>tcA	p.S788S	HECTD4_ENST00000550722.1_Silent_p.S1064S|HECTD4_ENST00000377560.5_Silent_p.S1038S			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	788					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)										TTCTTAACATGGAACAAGCTA	0.448																																																	0													124.0	110.0	115.0					12																	112688861		2203	4300	6503	SO:0001819	synonymous_variant	0			AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.2364C>A	12.37:g.112688861G>T			L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT	p.S1038	ENST00000430131.2	37	c.3114		12																																																																																			HECTD4	-	NULL	ENSG00000173064		0.448	HECTD4-202	KNOWN	basic	protein_coding	HECTD4	HGNC	protein_coding			0.00	66	0	G	NM_173813		112688861	-1			no_errors	ENST00000377560	ensembl	human	known	74_37	silent	5.06	75	4	SNP	1.000	T
HIF1A	3091	genome.wustl.edu	37	14	62200949	62200949	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:62200949A>T	ENST00000337138.4	+	8	1239	c.974A>T	c.(973-975)tAt>tTt	p.Y325F	HIF1A_ENST00000394997.1_Missense_Mutation_p.Y326F|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000539097.1_Missense_Mutation_p.Y349F|HIF1A_ENST00000557538.1_Missense_Mutation_p.Y266F|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.Y325F	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	325	Interaction with TSGA10. {ECO:0000250}.|PAC.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	ACTGTCATATATAACACCAAG	0.388																																																	0													118.0	105.0	109.0					14																	62200949		2203	4300	6503	SO:0001583	missense	0			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.974A>T	14.37:g.62200949A>T	ENSP00000338018:p.Tyr325Phe		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_HIF-1_alpha,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.Y349F	ENST00000337138.4	37	c.1046	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	A	29.2	4.982203	0.93044	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27	5.44	5.44	0.79542	PAS fold-3 (1);PAS (1);	0.000000	0.85682	D	0.000000	T	0.40619	0.1124	M	0.63428	1.95	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.23940	-1.0174	10	0.87932	D	0	.	15.7835	0.78281	1.0:0.0:0.0:0.0	.	326;325;325	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	F	76;266;325;326;325;266;349	ENSP00000338018:Y325F;ENSP00000378446:Y326F;ENSP00000323326:Y325F;ENSP00000451696:Y266F;ENSP00000437955:Y349F	ENSP00000323326:Y325F	Y	+	2	0	HIF1A	61270702	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.287000	0.95975	2.185000	0.69588	0.455000	0.32223	TAT	HIF1A	-	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAC,tigrfam_PAS	ENSG00000100644		0.388	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	-	0.00	98	0	A	NM_001530		62200949	+1	tier1	-	no_errors	ENST00000539097	ensembl	human	known	74_37	missense	48.28	45	42	SNP	1.000	T
HIF1AN	55662	genome.wustl.edu	37	10	102304740	102304740	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:102304740C>A	ENST00000299163.6	+	4	710	c.610C>A	c.(610-612)Cag>Aag	p.Q204K		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor	204	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cellular response to hypoxia (GO:0071456)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|oxidation-reduction process (GO:0055114)|peptidyl-asparagine hydroxylation (GO:0042265)|peptidyl-aspartic acid hydroxylation (GO:0042264)|peptidyl-histidine hydroxylation (GO:0036138)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of vasculogenesis (GO:2001214)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ankyrin repeat binding (GO:0071532)|carboxylic acid binding (GO:0031406)|cofactor binding (GO:0048037)|iron ion binding (GO:0005506)|NF-kappaB binding (GO:0051059)|Notch binding (GO:0005112)|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)|oxygen sensor activity (GO:0019826)|peptidyl-asparagine 3-dioxygenase activity (GO:0036140)|peptidyl-histidine dioxygenase activity (GO:0036139)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		TGATGAGCAGCAGAACTTTTT	0.443																																																	0													98.0	91.0	94.0					10																	102304740		2203	4300	6503	SO:0001583	missense	0			AK000622	CCDS7498.1	10q24	2008-12-18	2008-12-02		ENSG00000166135	ENSG00000166135	1.14.11.16		17113	protein-coding gene	gene with protein product	"""Peptide-aspartate beta-dioxygenase"""	606615				11641274	Standard	NM_017902		Approved	FLJ20615, DKFZp762F1811, FLJ22027, FIH1	uc001krj.4	Q9NWT6	OTTHUMG00000018911	ENST00000299163.6:c.610C>A	10.37:g.102304740C>A	ENSP00000299163:p.Gln204Lys		D3DR69|Q5W147|Q969Q7|Q9NPV5	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.Q204K	ENST00000299163.6	37	c.610	CCDS7498.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.111083	0.94339	.	.	ENSG00000166135	ENST00000533589;ENST00000299163;ENST00000442724	T;T	0.21361	2.01;2.01	5.82	5.82	0.92795	Cupin, JmjC-type (1);Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.000000	0.85682	D	0.000000	T	0.38026	0.1025	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.69479	0.964	T	0.02901	-1.1096	10	0.09084	T	0.74	-4.6558	20.093	0.97828	0.0:1.0:0.0:0.0	.	204	Q9NWT6	HIF1N_HUMAN	K	97;204;237	ENSP00000433360:Q97K;ENSP00000299163:Q204K	ENSP00000299163:Q204K	Q	+	1	0	HIF1AN	102294730	1.000000	0.71417	0.989000	0.46669	0.914000	0.54420	7.818000	0.86416	2.756000	0.94617	0.561000	0.74099	CAG	HIF1AN	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	ENSG00000166135		0.443	HIF1AN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HIF1AN	HGNC	protein_coding	OTTHUMT00000049865.5	-	0.00	44	0	C	NM_017902		102304740	+1	tier1	-	no_errors	ENST00000299163	ensembl	human	known	74_37	missense	9.09	40	4	SNP	1.000	A
HMBOX1	79618	genome.wustl.edu	37	8	28906830	28906832	+	Intron	DEL	GGA	GGA	-			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	GGA	GGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr8:28906830_28906832delGGA	ENST00000397358.3	+	10	1829				HMBOX1_ENST00000355231.5_Intron|HMBOX1_ENST00000523613.1_3'UTR|HMBOX1_ENST00000519047.1_Intron|HMBOX1_ENST00000287701.10_Intron|HMBOX1_ENST00000444075.1_In_Frame_Del_p.E386del|HMBOX1_ENST00000524238.1_In_Frame_Del_p.E386del|HMBOX1_ENST00000558662.1_In_Frame_Del_p.E386del|RNA5SP260_ENST00000363849.1_RNA|HMBOX1_ENST00000517386.1_Intron	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1						negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TACGCAATggggaggaggaggag	0.453																																																	0																																										SO:0001627	intron_variant	0			AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.1125+265GGA>-	8.37:g.28906839_28906841delGGA			A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	In_Frame_Del	DEL	pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.E386in_frame_del	ENST00000397358.3	37	c.1146_1148	CCDS6071.1	8																																																																																			HMBOX1	-	NULL	ENSG00000147421		0.453	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	HMBOX1	HGNC	protein_coding	OTTHUMT00000255267.4		0.00	36	0	GGA	NM_024567		28906832	+1	tier1		no_errors	ENST00000444075	ensembl	human	known	74_37	in_frame_del	10.64	42	5	DEL	1.000:1.000:1.000	-
HRCT1	646962	genome.wustl.edu	37	9	35906348	35906350	+	In_Frame_Del	DEL	CTG	CTG	-	rs370606246		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	CTG	CTG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:35906348_35906350delCTG	ENST00000354323.2	+	1	160_162	c.64_66delCTG	c.(64-66)ctgdel	p.L28del		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	28						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						TGTGGCGGTCctgctgctgctgc	0.67																																																	0										367,3839		38,291,1774						-8.3	0.0			23	737,7385		88,561,3412	no	coding	HRCT1	NM_001039792.1		126,852,5186	A1A1,A1R,RR		9.0741,8.7256,8.9552				1104,11224				SO:0001651	inframe_deletion	0				CCDS35012.1	9p13.3	2008-09-30			ENSG00000196196	ENSG00000196196			33872	protein-coding gene	gene with protein product						12975309	Standard	NM_001039792		Approved	LGLL338, PRO537, UNQ338	uc003zyr.1	Q6UXD1	OTTHUMG00000154146	ENST00000354323.2:c.64_66delCTG	9.37:g.35906357_35906359delCTG	ENSP00000346283:p.Leu28del		B7ZBJ1	In_Frame_Del	DEL	NULL	p.L25in_frame_del	ENST00000354323.2	37	c.64_66	CCDS35012.1	9																																																																																			HRCT1	-	NULL	ENSG00000196196		0.670	HRCT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRCT1	HGNC	protein_coding	OTTHUMT00000334099.1		0.00	47	0	CTG	NM_001039792		35906350	+1	tier1		no_errors	ENST00000354323	ensembl	human	known	74_37	in_frame_del	10.17	53	6	DEL	0.168:0.493:0.516	-
HTRA1	5654	genome.wustl.edu	37	10	124248966	124248966	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:124248966G>T	ENST00000368984.3	+	3	729	c.601G>T	c.(601-603)Gtg>Ttg	p.V201L		NM_002775.4	NP_002766.1	Q92743	HTRA1_HUMAN	HtrA serine peptidase 1	201					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|kidney(1)|large_intestine(8)|lung(7)	17		all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238)				AGAGGTGCCGGTGGCTAGTGG	0.473																																																	0													148.0	146.0	146.0					10																	124248966		2203	4300	6503	SO:0001583	missense	0			AF097709	CCDS7630.1	10q26.3	2014-01-28	2005-08-18	2005-08-18	ENSG00000166033	ENSG00000166033		"""Serine peptidases / Serine peptidases"""	9476	protein-coding gene	gene with protein product		602194	"""protease, serine, 11 (IGF binding)"""	PRSS11		8977104	Standard	NM_002775		Approved	HtrA, IGFBP5-protease, ARMD7	uc001lgj.2	Q92743	OTTHUMG00000019186	ENST00000368984.3:c.601G>T	10.37:g.124248966G>T	ENSP00000357980:p.Val201Leu		D3DRE4|Q9UNS5	Missense_Mutation	SNP	pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,pfam_IGFBP-like,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_IGFBP-like,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C	p.V201L	ENST00000368984.3	37	c.601	CCDS7630.1	10	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403521	0.25291	.	.	ENSG00000166033	ENST00000368984;ENST00000435263	D	0.87809	-2.3	5.13	5.13	0.70059	Peptidase cysteine/serine, trypsin-like (1);	0.062602	0.64402	D	0.000005	D	0.83686	0.5308	L	0.47716	1.5	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.78628	-0.2130	10	0.20519	T	0.43	-20.2874	18.6163	0.91304	0.0:0.0:1.0:0.0	.	201	Q92743	HTRA1_HUMAN	L	201;168	ENSP00000357980:V201L	ENSP00000357980:V201L	V	+	1	0	HTRA1	124238956	1.000000	0.71417	0.959000	0.39883	0.238000	0.25445	9.722000	0.98770	2.386000	0.81285	0.650000	0.86243	GTG	HTRA1	-	superfamily_Trypsin-like_Pept_dom	ENSG00000166033		0.473	HTRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTRA1	HGNC	protein_coding	OTTHUMT00000128327.1		0.00	75	0	G	NM_002775		124248966	+1			no_errors	ENST00000368984	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
HYDIN	54768	genome.wustl.edu	37	16	71061539	71061539	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr16:71061539T>C	ENST00000393567.2	-	20	3158	c.3008A>G	c.(3007-3009)gAt>gGt	p.D1003G	HYDIN_ENST00000448691.1_Missense_Mutation_p.D1003G|HYDIN_ENST00000321489.5_Missense_Mutation_p.D1003G|HYDIN_ENST00000448089.2_Missense_Mutation_p.D1003G	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1003					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAGTATCACATCAATTGCCTG	0.507																																																	0													21.0	23.0	22.0					16																	71061539		2189	4292	6481	SO:0001583	missense	0			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.3008A>G	16.37:g.71061539T>C	ENSP00000377197:p.Asp1003Gly		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.D1003G	ENST00000393567.2	37	c.3008	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	T	18.77	3.694939	0.68386	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489	T;T;T;T	0.12672	2.66;2.66;2.66;2.66	4.85	4.85	0.62838	.	0.000000	0.33457	U	0.004899	T	0.34366	0.0895	M	0.77616	2.38	0.80722	D	1	D;P	0.69078	0.997;0.93	D;P	0.65233	0.933;0.558	T	0.10776	-1.0615	10	0.25751	T	0.34	.	14.1344	0.65276	0.0:0.0:0.0:1.0	.	1003;1003	Q4G0P3-5;F8WD23	.;.	G	1003	ENSP00000377197:D1003G;ENSP00000398544:D1003G;ENSP00000394826:D1003G;ENSP00000314736:D1003G	ENSP00000313052:D1003G	D	-	2	0	HYDIN	69619040	0.994000	0.37717	0.281000	0.24762	0.618000	0.37518	6.537000	0.73847	1.849000	0.53698	0.409000	0.27619	GAT	HYDIN	-	NULL	ENSG00000157423		0.507	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	-	0.00	26	0	T			71061539	-1	tier1	-	no_errors	ENST00000448089	ensembl	human	known	74_37	missense	20.00	20	5	SNP	0.998	C
IHH	3549	genome.wustl.edu	37	2	219920344	219920344	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:219920344G>T	ENST00000295731.6	-	3	820	c.821C>A	c.(820-822)gCt>gAt	p.A274D		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog	274					bone resorption (GO:0045453)|camera-type eye photoreceptor cell fate commitment (GO:0060220)|cartilage development (GO:0051216)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|chondrocyte proliferation (GO:0035988)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint development (GO:0072498)|epithelial cell morphogenesis (GO:0003382)|epithelial cell-cell adhesion (GO:0090136)|head morphogenesis (GO:0060323)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|intein-mediated protein splicing (GO:0016539)|maternal process involved in female pregnancy (GO:0060135)|multicellular organism growth (GO:0035264)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of eye pigmentation (GO:0048074)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell differentiation in thymus (GO:0033085)|neuron development (GO:0048666)|osteoblast differentiation (GO:0001649)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of growth (GO:0040008)|response to estradiol (GO:0032355)|retinal pigment epithelium development (GO:0003406)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|smoothened signaling pathway (GO:0007224)|somite development (GO:0061053)|vitelline membrane formation (GO:0030704)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|patched binding (GO:0005113)|peptidase activity (GO:0008233)			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGCAGGTGAGCGGGTGTGAG	0.642																																																	0													51.0	53.0	52.0					2																	219920344		2203	4300	6503	SO:0001583	missense	0			L38517	CCDS33380.1	2q33-q35	2013-02-15	2013-02-15		ENSG00000163501	ENSG00000163501			5956	protein-coding gene	gene with protein product		600726	"""Indian hedgehog (Drosophila) homolog"", ""Indian hedgehog homolog (Drosophila)"""			7590746, 14770182	Standard	NM_002181		Approved	HHG2, BDA1	uc002vjo.2	Q14623	OTTHUMG00000154631	ENST00000295731.6:c.821C>A	2.37:g.219920344G>T	ENSP00000295731:p.Ala274Asp		B9EGM5|O43322|Q8N4B9	Missense_Mutation	SNP	pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site	p.A274D	ENST00000295731.6	37	c.821	CCDS33380.1	2	.	.	.	.	.	.	.	.	.	.	G	21.1	4.096143	0.76870	.	.	ENSG00000163501	ENST00000295731	D	0.98732	-5.1	5.16	5.16	0.70880	Hedgehog/intein hint, N-terminal (1);Peptidase C46, hedgehog protein, hint region (1);	0.049948	0.85682	D	0.000000	D	0.98741	0.9577	M	0.72118	2.19	0.80722	D	1	D	0.63880	0.993	D	0.65874	0.939	D	0.99922	1.1260	10	0.13470	T	0.59	-2.0169	18.2593	0.90030	0.0:0.0:1.0:0.0	.	274	Q14623	IHH_HUMAN	D	274	ENSP00000295731:A274D	ENSP00000295731:A274D	A	-	2	0	IHH	219628588	0.996000	0.38824	0.985000	0.45067	0.675000	0.39556	6.533000	0.73829	2.381000	0.81170	0.561000	0.74099	GCT	IHH	-	pirsf_Hedgehog,pfam_Hint_dom,smart_Hint_dom_N,prints_Hedgehog,pfscan_Intein_splice_site	ENSG00000163501		0.642	IHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IHH	HGNC	protein_coding	OTTHUMT00000336408.2	-	0.00	63	0	G	NM_002181		219920344	-1	tier1	-	no_errors	ENST00000295731	ensembl	human	known	74_37	missense	5.21	91	5	SNP	1.000	T
IL15	3600	genome.wustl.edu	37	4	142651093	142651093	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:142651093G>C	ENST00000296545.7	+	7	1178	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q	IL15_ENST00000477265.1_Missense_Mutation_p.E85Q|IL15_ENST00000514653.1_Missense_Mutation_p.E85Q|IL15_ENST00000394159.1_Missense_Mutation_p.E85Q|IL15_ENST00000320650.4_Missense_Mutation_p.E112Q|IL15_ENST00000529613.1_Missense_Mutation_p.E112Q			P40933	IL15_HUMAN	interleukin 15	112					aging (GO:0007568)|cell maturation (GO:0048469)|cell-cell signaling (GO:0007267)|cellular response to vitamin D (GO:0071305)|extrathymic T cell selection (GO:0045062)|hyaluronan metabolic process (GO:0030212)|immune response (GO:0006955)|inflammatory response (GO:0006954)|lymph node development (GO:0048535)|natural killer cell differentiation (GO:0001779)|negative regulation of smooth muscle cell proliferation (GO:0048662)|NK T cell proliferation (GO:0001866)|positive regulation of cell proliferation (GO:0008284)|positive regulation of immune response (GO:0050778)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of defense response to virus by host (GO:0050691)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)|skeletal muscle atrophy (GO:0014732)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					TGATACAGTAGAAAATCTGAT	0.388																																					Pancreas(10;184 986 25902)												0													118.0	118.0	118.0					4																	142651093		2203	4299	6502	SO:0001583	missense	0			U14407	CCDS3755.1, CCDS3756.1	4q31	2011-07-14			ENSG00000164136	ENSG00000164136		"""Interleukins and interleukin receptors"""	5977	protein-coding gene	gene with protein product		600554				8178155	Standard	NM_000585		Approved	IL-15, MGC9721	uc003iis.3	P40933	OTTHUMG00000133418	ENST00000296545.7:c.334G>C	4.37:g.142651093G>C	ENSP00000296545:p.Glu112Gln		D3DNZ2|O00440|O43512|Q495Z8|Q6FGX7|Q93058|Q9UBA3	Missense_Mutation	SNP	pfam_IL-15/IL-21_fam,prints_IL-15_mml,prints_IL-15	p.E112Q	ENST00000296545.7	37	c.334	CCDS3755.1	4	.	.	.	.	.	.	.	.	.	.	G	5.121	0.207901	0.09704	.	.	ENSG00000164136	ENST00000320650;ENST00000296545;ENST00000514653;ENST00000529613;ENST00000477265;ENST00000394159	.	.	.	5.49	1.05	0.20165	.	0.620634	0.16246	N	0.222904	T	0.27967	0.0689	L	0.43701	1.375	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.16689	-1.0394	9	0.38643	T	0.18	-2.3285	2.4728	0.04568	0.1163:0.3876:0.325:0.1711	.	112	P40933	IL15_HUMAN	Q	112;112;85;112;85;85	.	ENSP00000296545:E112Q	E	+	1	0	IL15	142870543	0.063000	0.20901	0.050000	0.19076	0.017000	0.09413	-0.116000	0.10724	0.239000	0.21243	0.650000	0.86243	GAA	IL15	-	pfam_IL-15/IL-21_fam	ENSG00000164136		0.388	IL15-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IL15	HGNC	protein_coding	OTTHUMT00000257278.2	-	0.00	68	0	G	NM_172175		142651093	+1	tier1	-	no_errors	ENST00000296545	ensembl	human	known	74_37	missense	15.48	71	13	SNP	0.033	C
ING4	51147	genome.wustl.edu	37	12	6772257	6772257	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:6772257C>T	ENST00000396807.4	-	1	49	c.11G>A	c.(10-12)gGg>gAg	p.G4E	ING4_ENST00000423703.2_Missense_Mutation_p.G4E|ING4_ENST00000444704.2_Missense_Mutation_p.G4E|ING4_ENST00000412586.2_Missense_Mutation_p.G4E|ING4_ENST00000341550.4_Missense_Mutation_p.G4E|ING4_ENST00000446105.2_Missense_Mutation_p.G4E|RP4-761J14.8_ENST00000589924.1_RNA	NM_001127582.1|NM_001127585.1|NM_001127586.1|NM_016162.3	NP_001121054.1|NP_001121057.1|NP_001121058.1|NP_057246.2	Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	4					apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|chromatin organization (GO:0006325)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|protein acetylation (GO:0006473)	histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						CAAATACATCCCCGCAGCCAT	0.572																																																	0													107.0	85.0	93.0					12																	6772257		2203	4300	6503	SO:0001583	missense	0			AF063594	CCDS8555.1, CCDS44812.1, CCDS44813.1, CCDS44814.1, CCDS44815.1, CCDS44816.1	12p13.32	2013-01-28			ENSG00000111653	ENSG00000111653		"""Zinc fingers, PHD-type"""	19423	protein-coding gene	gene with protein product		608524				12750254	Standard	NM_001127582		Approved	p29ING4, my036	uc001qpw.4	Q9UNL4	OTTHUMG00000141274	ENST00000396807.4:c.11G>A	12.37:g.6772257C>T	ENSP00000380024:p.Gly4Glu		A4KYM4|A4KYM6|D3DUR8|Q0EF62|Q0EF63|Q4VBQ6|Q96E15|Q9H3J0	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G4E	ENST00000396807.4	37	c.11	CCDS44813.1	12	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724372	0.89298	.	.	ENSG00000111653	ENST00000341550;ENST00000396807;ENST00000446105;ENST00000444704;ENST00000423703;ENST00000412586	.	.	.	5.0	5.0	0.66597	.	0.062472	0.64402	D	0.000005	T	0.74275	0.3695	L	0.42744	1.35	0.80722	D	1	D;D;D;P;P;D	0.89917	0.985;0.984;1.0;0.696;0.615;1.0	P;P;D;P;B;D	0.91635	0.888;0.811;0.999;0.535;0.412;0.998	T	0.76691	-0.2866	9	0.87932	D	0	-8.4839	18.4828	0.90818	0.0:1.0:0.0:0.0	.	4;4;4;4;4;4	Q9UNL4-3;A4KYM6;Q9UNL4-4;Q9UNL4-5;Q9UNL4;Q4VBQ6	.;.;.;.;ING4_HUMAN;.	E	4	.	ENSP00000343396:G4E	G	-	2	0	ING4	6642518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.038000	0.57318	2.617000	0.88574	0.655000	0.94253	GGG	ING4	-	NULL	ENSG00000111653		0.572	ING4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ING4	HGNC	protein_coding	OTTHUMT00000280467.2	-	0.00	52	0	C	NM_198287		6772257	-1	tier1	-	no_errors	ENST00000396807	ensembl	human	known	74_37	missense	31.75	43	20	SNP	1.000	T
IQCF3	401067	genome.wustl.edu	37	3	51863474	51863474	+	5'UTR	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:51863474G>T	ENST00000456080.1	+	0	1148				IQCF3_ENST00000444293.1_5'UTR|IQCF3_ENST00000437810.2_5'UTR|IQCF3_ENST00000440739.2_5'UTR|IQCF3_ENST00000446775.1_5'UTR			P0C7M6	IQCF3_HUMAN	IQ motif containing F3											endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGATCACCTGAACCACTGCT	0.542																																																	0													63.0	65.0	64.0					3																	51863474		1977	4175	6152	SO:0001623	5_prime_UTR_variant	0			AK057432	CCDS46837.1	3p21.31	2008-06-12			ENSG00000229972	ENSG00000229972			31816	protein-coding gene	gene with protein product							Standard	NM_001085479		Approved		uc021wyz.1	P0C7M6	OTTHUMG00000156910	ENST00000456080.1:c.-18G>T	3.37:g.51863474G>T			B2RUV0	RNA	SNP	-	NULL	ENST00000456080.1	37	NULL	CCDS46837.1	3																																																																																			IQCF3	-	-	ENSG00000229972		0.542	IQCF3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCF3	HGNC	protein_coding	OTTHUMT00000346579.2	-	0.00	35	0	G	NM_001085479		51863474	+1	tier1	-	no_errors	ENST00000472485	ensembl	human	known	74_37	rna	11.11	32	4	SNP	0.264	T
IRS1	3667	genome.wustl.edu	37	2	227661396	227661398	+	In_Frame_Del	DEL	TGC	TGC	-	rs138975702	byFrequency	TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	TGC	TGC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:227661396_227661398delTGC	ENST00000305123.5	-	1	3077_3079	c.2057_2059delGCA	c.(2056-2061)agcaac>aac	p.S686del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	686	Poly-Ser.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGACGGCGTtgctgctgctgct	0.621											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70	0.0139776	0.0356	0.0072	5008	,	,		17570	0.004		0.008	False		,,,				2504	0.0061																0			GRCh37	CD951753	IRS1	D	rs138975702																																			SO:0001651	inframe_deletion	0				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2057_2059delGCA	2.37:g.227661405_227661407delTGC	ENSP00000304895:p.Ser686del	2321		In_Frame_Del	DEL	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,prints_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1	p.S686in_frame_del	ENST00000305123.5	37	c.2059_2057	CCDS2463.1	2																																																																																			IRS1	-	NULL	ENSG00000169047		0.621	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS1	HGNC	protein_coding	OTTHUMT00000256886.3		0.00	61	0	TGC	NM_005544		227661398	-1	tier1		no_errors	ENST00000305123	ensembl	human	known	74_37	in_frame_del	12.50	42	6	DEL	0.115:0.543:0.508	-
JMY	133746	genome.wustl.edu	37	5	78620819	78620819	+	3'UTR	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:78620819G>T	ENST00000396137.4	+	0	6823				JMY_ENST00000412001.1_3'UTR	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor						'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		GTGTCAAGTTGCAAAGCATAC	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.*3394G>T	5.37:g.78620819G>T			A1L4P5|B5MDS2|B5MDT0	RNA	SNP	-	NULL	ENST00000396137.4	37	NULL	CCDS4047.3	5																																																																																			JMY	-	-	ENSG00000152409		0.343	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMY	HGNC	protein_coding	OTTHUMT00000254070.4	-	0.00	89	0	G	NM_152405		78620819	+1	tier1	-	no_errors	ENST00000412001	ensembl	human	known	74_37	rna	6.90	54	4	SNP	0.000	T
KANK1	23189	genome.wustl.edu	37	9	712709	712709	+	Missense_Mutation	SNP	G	G	A	rs575779520		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:712709G>A	ENST00000382303.1	+	7	2595	c.1943G>A	c.(1942-1944)cGg>cAg	p.R648Q	KANK1_ENST00000382293.3_Missense_Mutation_p.R490Q|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Missense_Mutation_p.R648Q	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	648					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TGCGCCTCCCGGGGCGTGAAC	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		21409	0.0		0.0	False		,,,				2504	0.001																0													50.0	41.0	44.0					9																	712709		2203	4300	6503	SO:0001583	missense	0			AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.1943G>A	9.37:g.712709G>A	ENSP00000371740:p.Arg648Gln		A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R648Q	ENST00000382303.1	37	c.1943	CCDS34976.1	9	.	.	.	.	.	.	.	.	.	.	g	5.605	0.296459	0.10622	.	.	ENSG00000107104	ENST00000382303;ENST00000354485;ENST00000382297;ENST00000382293	T;T;T	0.16743	2.32;2.32;2.32	5.97	1.63	0.23807	.	0.270131	0.26792	N	0.022473	T	0.11410	0.0278	L	0.31752	0.955	0.80722	D	1	B;B	0.24576	0.002;0.106	B;B	0.09377	0.002;0.004	T	0.13469	-1.0508	10	0.31617	T	0.26	-10.2125	11.7975	0.52108	0.2816:0.0:0.7184:0.0	.	648;648	Q5W0W1;Q14678	.;KANK1_HUMAN	Q	648;648;648;490	ENSP00000371740:R648Q;ENSP00000371734:R648Q;ENSP00000371730:R490Q	ENSP00000346479:R648Q	R	+	2	0	KANK1	702709	0.868000	0.29978	0.278000	0.24718	0.162000	0.22319	1.771000	0.38542	0.433000	0.26313	-0.137000	0.14449	CGG	KANK1	-	NULL	ENSG00000107104		0.547	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK1	HGNC	protein_coding	OTTHUMT00000051484.2	-	0.00	24	0	G	NM_015158		712709	+1	tier1	-	no_errors	ENST00000382297	ensembl	human	known	74_37	missense	73.91	6	17	SNP	0.898	A
KCNJ5	3762	genome.wustl.edu	37	11	128786561	128786561	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:128786561G>T	ENST00000338350.4	+	4	1547	c.1195G>T	c.(1195-1197)Gag>Tag	p.E399*	KCNJ5_ENST00000529694.1_Nonsense_Mutation_p.E399*|KCNJ5_ENST00000533599.1_Nonsense_Mutation_p.E399*			P48544	KCNJ5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	399					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glyburide(DB01016)	TGCAGAGGCTGAGCAGAATGA	0.657																																					Pancreas(108;2548 5082)|Esophageal Squamous(165;4544 6231)												0													19.0	22.0	21.0					11																	128786561		2199	4295	6494	SO:0001587	stop_gained	0			D50134	CCDS8479.1	11q24	2014-09-17				ENSG00000120457		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6266	protein-coding gene	gene with protein product		600734				16382105	Standard	NM_000890		Approved	Kir3.4, CIR, KATP1, GIRK4, LQT13	uc001qet.3	P48544		ENST00000338350.4:c.1195G>T	11.37:g.128786561G>T	ENSP00000339960:p.Glu399*		B2R744|Q6DK13|Q6DK14|Q92807	Nonsense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4	p.E399*	ENST00000338350.4	37	c.1195	CCDS8479.1	11	.	.	.	.	.	.	.	.	.	.	G	16.24	3.068455	0.55539	.	.	ENSG00000120457	ENST00000529694;ENST00000338350;ENST00000533599	.	.	.	3.99	3.99	0.46301	.	0.872703	0.09667	N	0.771725	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	15.0541	0.71897	0.0:0.0:1.0:0.0	.	.	.	.	X	399	.	ENSP00000339960:E399X	E	+	1	0	KCNJ5	128291771	0.971000	0.33674	0.980000	0.43619	0.099000	0.18886	2.125000	0.42016	2.079000	0.62486	0.466000	0.42574	GAG	KCNJ5	-	pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.4	ENSG00000120457		0.657	KCNJ5-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	KCNJ5	HGNC	protein_coding	OTTHUMT00000386239.1	-	0.00	52	0	G	NM_000890		128786561	+1	tier1	-	no_errors	ENST00000529694	ensembl	human	known	74_37	nonsense	7.14	52	4	SNP	0.998	T
KCNU1	157855	genome.wustl.edu	37	8	36721957	36721957	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr8:36721957G>T	ENST00000399881.3	+	19	1964	c.1927G>T	c.(1927-1929)Gga>Tga	p.G643*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	643					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATGTCTGAAGGGAATCTCCTC	0.448																																																	0													136.0	127.0	130.0					8																	36721957		1861	4093	5954	SO:0001587	stop_gained	0			BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1927G>T	8.37:g.36721957G>T	ENSP00000382770:p.Gly643*			Nonsense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu	p.G643*	ENST00000399881.3	37	c.1927	CCDS55220.1	8	.	.	.	.	.	.	.	.	.	.	G	24.4	4.525771	0.85600	.	.	ENSG00000215262	ENST00000399881	.	.	.	4.38	-0.618	0.11576	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	4.3714	0.11249	0.3738:0.1608:0.4654:0.0	.	.	.	.	X	643	.	ENSP00000382770:G643X	G	+	1	0	KCNU1	36841115	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.275000	0.18698	-0.130000	0.11599	0.650000	0.86243	GGA	KCNU1	-	NULL	ENSG00000215262		0.448	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	KCNU1	HGNC	protein_coding	OTTHUMT00000376631.1	-	0.00	52	0	G	NM_001031836		36721957	+1	tier1	-	no_errors	ENST00000399881	ensembl	human	known	74_37	nonsense	5.33	71	4	SNP	0.000	T
KIF26B	55083	genome.wustl.edu	37	1	245850736	245850736	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:245850736C>T	ENST00000407071.2	+	12	4891	c.4451C>T	c.(4450-4452)cCc>cTc	p.P1484L	KIF26B_ENST00000366518.4_Missense_Mutation_p.P1103L	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1484					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GACGGAAAGCCCAGTCCGGGA	0.622																																																	0													23.0	28.0	27.0					1																	245850736		2150	4255	6405	SO:0001583	missense	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.4451C>T	1.37:g.245850736C>T	ENSP00000385545:p.Pro1484Leu		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P1484L	ENST00000407071.2	37	c.4451	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	9.328	1.059724	0.19987	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76968	-1.06;-1.06	5.42	2.52	0.30459	.	.	.	.	.	T	0.72518	0.3470	M	0.68593	2.085	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.62661	-0.6807	9	0.51188	T	0.08	.	6.4758	0.22034	0.308:0.5468:0.0:0.1452	.	1103;1484	B7WPD9;Q2KJY2	.;KI26B_HUMAN	L	1484;1103;1100	ENSP00000385545:P1484L;ENSP00000355475:P1103L	ENSP00000355475:P1103L	P	+	2	0	KIF26B	243917359	0.001000	0.12720	0.000000	0.03702	0.461000	0.32589	0.895000	0.28363	0.350000	0.24002	0.561000	0.74099	CCC	KIF26B	-	NULL	ENSG00000162849		0.622	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	-	0.00	18	0	C	XM_371354		245850736	+1	tier1	-	no_errors	ENST00000407071	ensembl	human	known	74_37	missense	73.53	9	25	SNP	0.000	T
KIF5A	3798	genome.wustl.edu	37	12	57972061	57972061	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:57972061C>A	ENST00000455537.2	+	23	2748	c.2474C>A	c.(2473-2475)tCc>tAc	p.S825Y	KIF5A_ENST00000286452.5_Missense_Mutation_p.S736Y	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	825					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGGATTCACTCCCAAAAGCAG	0.473																																																	0													96.0	94.0	95.0					12																	57972061		2203	4300	6503	SO:0001583	missense	0			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.2474C>A	12.37:g.57972061C>A	ENSP00000408979:p.Ser825Tyr		A6H8M5|Q4LE26	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S825Y	ENST00000455537.2	37	c.2474	CCDS8945.1	12	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073754	0.76415	.	.	ENSG00000155980	ENST00000455537;ENST00000286452	T;T	0.76968	-1.06;-1.06	5.15	5.15	0.70609	.	0.063549	0.64402	D	0.000005	T	0.72293	0.3442	N	0.22421	0.69	0.41235	D	0.986603	P;P	0.47106	0.89;0.89	P;P	0.45753	0.492;0.492	T	0.77330	-0.2628	10	0.87932	D	0	.	18.0099	0.89220	0.0:1.0:0.0:0.0	.	736;825	B7Z2M7;Q12840	.;KIF5A_HUMAN	Y	825;736	ENSP00000408979:S825Y;ENSP00000286452:S736Y	ENSP00000286452:S736Y	S	+	2	0	KIF5A	56258328	0.960000	0.32886	1.000000	0.80357	0.998000	0.95712	5.896000	0.69822	2.869000	0.98440	0.558000	0.71614	TCC	KIF5A	-	superfamily_Prefoldin	ENSG00000155980		0.473	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5A	HGNC	protein_coding	OTTHUMT00000407634.1	-	0.00	69	0	C	NM_004984		57972061	+1	tier1	-	no_errors	ENST00000455537	ensembl	human	known	74_37	missense	7.14	52	4	SNP	1.000	A
KLHL30	377007	genome.wustl.edu	37	2	239049954	239049954	+	Silent	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:239049954C>T	ENST00000409223.1	+	2	666	c.559C>T	c.(559-561)Ctg>Ttg	p.L187L	KLHL30_ENST00000305959.4_Silent_p.L169L			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	187	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGCCGGCGACCTGCTGCAGGT	0.687																																																	0													11.0	15.0	14.0					2																	239049954		2071	4173	6244	SO:0001819	synonymous_variant	0				CCDS46555.1, CCDS46555.2	2q37.3	2013-02-22	2013-02-22		ENSG00000168427	ENSG00000168427		"""Kelch-like"", ""BTB/POZ domain containing"""	24770	protein-coding gene	gene with protein product			"""kelch-like 30 (Drosophila)"""				Standard	NM_198582		Approved	FLJ43374	uc002vxr.2	Q0D2K2	OTTHUMG00000152905	ENST00000409223.1:c.559C>T	2.37:g.239049954C>T			Q6ZUS1	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L187	ENST00000409223.1	37	c.559	CCDS46555.2	2																																																																																			KLHL30	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin	ENSG00000168427		0.687	KLHL30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL30	HGNC	protein_coding	OTTHUMT00000328518.1		0.00	52	0	C	NM_198582		239049954	+1			no_errors	ENST00000409223	ensembl	human	known	74_37	silent	8.33	44	4	SNP	1.000	T
KMT2D	8085	genome.wustl.edu	37	12	49428677	49428678	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:49428677_49428678insA	ENST00000301067.7	-	35	10271_10272	c.10272_10273insT	c.(10270-10275)attgcafs	p.A3425fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3425	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										TTGGCCTTTGCAATGGGATCAA	0.515																																																	0																																										SO:0001589	frameshift_variant	0			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10273dupT	12.37:g.49428679_49428679dupA	ENSP00000301067:p.Ala3425fs		O14687	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.A3424fs	ENST00000301067.7	37	c.10273_10272	CCDS44873.1	12																																																																																			KMT2D	-	NULL	ENSG00000167548		0.515	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KMT2D	HGNC	protein_coding	OTTHUMT00000390183.2		0.00	40	0	-			49428678	-1	tier1		no_errors	ENST00000301067	ensembl	human	known	74_37	frame_shift_ins	28.57	35	14	INS	1.000:1.000	A
KRTAP13-3	337960	genome.wustl.edu	37	21	31797973	31797973	+	Silent	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr21:31797973G>A	ENST00000390690.2	-	1	313	c.258C>T	c.(256-258)caC>caT	p.H86H		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	86	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						TGCAGAGCATGTGAGTCCTGG	0.567																																																	0													64.0	72.0	69.0					21																	31797973		2200	4300	6500	SO:0001819	synonymous_variant	0			AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"""Keratin associated proteins"""	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.258C>T	21.37:g.31797973G>A			Q3LI78	Silent	SNP	pfam_KRTAP_PMG	p.H86	ENST00000390690.2	37	c.258	CCDS13591.1	21																																																																																			KRTAP13-3	-	pfam_KRTAP_PMG	ENSG00000240432		0.567	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-3	HGNC	protein_coding	OTTHUMT00000128228.2	-	0.00	56	0	G			31797973	-1	tier1	-	no_errors	ENST00000390690	ensembl	human	known	74_37	silent	32.79	41	20	SNP	0.000	A
L3HYPDH	112849	genome.wustl.edu	37	14	59945904	59945904	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:59945904G>T	ENST00000247194.4	-	2	787	c.674C>A	c.(673-675)gCt>gAt	p.A225D	RP11-701B16.2_ENST00000554253.1_RNA|L3HYPDH_ENST00000487285.1_Missense_Mutation_p.A54D	NM_144581.1	NP_653182.1	Q96EM0	T3HPD_HUMAN	L-3-hydroxyproline dehydratase (trans-)	225					metabolic process (GO:0008152)		hydro-lyase activity (GO:0016836)|trans-L-3-hydroxyproline dehydratase activity (GO:0050346)									L-Proline(DB00172)	ACTGACCTGAGCTTTCACTGC	0.393																																																	0													107.0	100.0	102.0					14																	59945904		2203	4300	6503	SO:0001583	missense	0			AI762327	CCDS9739.1	14q23.1	2012-08-15	2012-08-15	2012-08-15	ENSG00000126790	ENSG00000126790	4.2.1.77		20488	protein-coding gene	gene with protein product	"""trans-L-3-hydroxyproline dehydratase"""	614811	"""chromosome 14 open reading frame 149"""	C14orf149		22528483	Standard	NM_144581		Approved	FLJ25436	uc001xee.1	Q96EM0	OTTHUMG00000028941	ENST00000247194.4:c.674C>A	14.37:g.59945904G>T	ENSP00000247194:p.Ala225Asp		Q96LJ5	Missense_Mutation	SNP	pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam	p.A225D	ENST00000247194.4	37	c.674	CCDS9739.1	14	.	.	.	.	.	.	.	.	.	.	G	11.49	1.655129	0.29425	.	.	ENSG00000126790	ENST00000247194;ENST00000487285;ENST00000481608	T;T;T	0.18657	2.2;2.2;2.2	5.68	4.74	0.60224	.	0.271361	0.42172	D	0.000752	T	0.25568	0.0622	L	0.48174	1.505	0.38146	D	0.938609	B	0.33964	0.434	B	0.43990	0.438	T	0.03587	-1.1022	10	0.10902	T	0.67	-16.4547	14.7904	0.69837	0.0:0.0:0.7794:0.2205	.	225	Q96EM0	PRCM_HUMAN	D	225;54;54	ENSP00000247194:A225D;ENSP00000431608:A54D;ENSP00000423874:A54D	ENSP00000247194:A225D	A	-	2	0	C14orf149	59015657	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	3.267000	0.51577	2.672000	0.90937	0.563000	0.77884	GCT	L3HYPDH	-	pfam_Pro_racemase_fam,pirsf_Pro_racemase_fam	ENSG00000126790		0.393	L3HYPDH-003	KNOWN	basic|appris_principal|CCDS	protein_coding	L3HYPDH	HGNC	protein_coding	OTTHUMT00000072254.5		0.00	48	0	G	NM_144581		59945904	-1			no_errors	ENST00000247194	ensembl	human	known	74_37	missense	5.88	64	4	SNP	1.000	T
LAMA5	3911	genome.wustl.edu	37	20	60894802	60894802	+	Missense_Mutation	SNP	G	G	T	rs555299125		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr20:60894802G>T	ENST00000252999.3	-	51	6875	c.6809C>A	c.(6808-6810)gCc>gAc	p.A2270D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2270	Domain II and I.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|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-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GCCCAGTGTGGCCTCGGTGCC	0.706																																																	0													13.0	13.0	13.0					20																	60894802		2103	4180	6283	SO:0001583	missense	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.6809C>A	20.37:g.60894802G>T	ENSP00000252999:p.Ala2270Asp		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.A2270D	ENST00000252999.3	37	c.6809	CCDS33502.1	20	.	.	.	.	.	.	.	.	.	.	-	8.083	0.772822	0.16051	.	.	ENSG00000130702	ENST00000252999	T	0.09445	2.98	4.46	-2.17	0.07059	Laminin I (1);	0.984955	0.08300	U	0.967115	T	0.04952	0.0133	N	0.19112	0.55	0.51767	D	0.999938	B	0.06786	0.001	B	0.10450	0.005	T	0.45963	-0.9225	10	0.14656	T	0.56	.	1.2867	0.02052	0.1844:0.1393:0.393:0.2833	.	2270	O15230	LAMA5_HUMAN	D	2270	ENSP00000252999:A2270D	ENSP00000252999:A2270D	A	-	2	0	LAMA5	60328197	0.966000	0.33281	0.024000	0.17045	0.011000	0.07611	0.825000	0.27393	-0.175000	0.10725	-0.290000	0.09829	GCC	LAMA5	-	pfam_Laminin_I	ENSG00000130702		0.706	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2		0.00	14	0	G	NM_005560		60894802	-1			no_errors	ENST00000252999	ensembl	human	known	74_37	missense	10.00	36	4	SNP	0.792	T
LDLR	3949	genome.wustl.edu	37	19	11222249	11222249	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:11222249G>T	ENST00000558518.1	+	8	1307	c.1120G>T	c.(1120-1122)Ggc>Tgc	p.G374C	LDLR_ENST00000558013.1_Missense_Mutation_p.G374C|LDLR_ENST00000455727.2_Missense_Mutation_p.G206C|LDLR_ENST00000545707.1_Missense_Mutation_p.G247C|LDLR_ENST00000557933.1_Missense_Mutation_p.G374C|LDLR_ENST00000535915.1_Missense_Mutation_p.G333C	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	374	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	CCTGGAGGGTGGCTACAAGTG	0.632																																					GBM(18;201 575 7820 21545)												1	Unknown(1)	lung(1)	GRCh37	CX061562	LDLR	X							65.0	62.0	63.0					19																	11222249		2203	4300	6503	SO:0001583	missense	0			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.1120G>T	19.37:g.11222249G>T	ENSP00000454071:p.Gly374Cys		B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt	p.G374C	ENST00000558518.1	37	c.1120	CCDS12254.1	19	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321022	0.41096	.	.	ENSG00000130164	ENST00000252444;ENST00000545707;ENST00000535915;ENST00000455727	D;D;D	0.93488	-3.23;-3.23;-3.23	5.56	-0.791	0.10929	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.160816	0.42548	D	0.000684	D	0.95934	0.8676	M	0.92219	3.285	0.30607	N	0.759905	P;P;P;P;P;P	0.50710	0.798;0.799;0.799;0.478;0.938;0.807	P;P;P;P;D;D	0.63033	0.695;0.811;0.867;0.719;0.91;0.91	D	0.92393	0.5923	10	0.72032	D	0.01	.	5.8769	0.18834	0.5267:0.0:0.3522:0.121	.	206;247;253;333;386;374	B4DR00;B4DJZ8;B4DII3;B4DTQ3;Q59FQ1;P01130	.;.;.;.;.;LDLR_HUMAN	C	374;247;333;206	ENSP00000437639:G247C;ENSP00000440520:G333C;ENSP00000397829:G206C	ENSP00000252444:G374C	G	+	1	0	LDLR	11083249	0.010000	0.17322	0.712000	0.30502	0.141000	0.21300	0.235000	0.17948	-0.450000	0.07107	-1.130000	0.01982	GGC	LDLR	-	pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom	ENSG00000130164		0.632	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLR	HGNC	protein_coding	OTTHUMT00000415973.2		0.00	37	0	G			11222249	+1			no_errors	ENST00000558518	ensembl	human	known	74_37	missense	5.56	68	4	SNP	0.949	T
LGALS3BP	3959	genome.wustl.edu	37	17	76968463	76968480	+	In_Frame_Del	DEL	TCGCTGGGCACCGCCAGG	TCGCTGGGCACCGCCAGG	-	rs541114993		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	TCGCTGGGCACCGCCAGG	TCGCTGGGCACCGCCAGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:76968463_76968480delTCGCTGGGCACCGCCAGG	ENST00000262776.3	-	6	1244_1261	c.936_953delCCTGGCGGTGCCCAGCGA	c.(934-954)gacctggcggtgcccagcgag>gag	p.DLAVPS312del	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	312	BACK.				cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TAGGGCCAGCTCGCTGGGCACCGCCAGGTCGCTCCTGG	0.665																																					GBM(89;1105 1755 18102 21513)												0																																										SO:0001651	inframe_deletion	0			L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.936_953delCCTGGCGGTGCCCAGCGA	17.37:g.76968463_76968480delTCGCTGGGCACCGCCAGG	ENSP00000262776:p.Asp312_Ser317del		Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	In_Frame_Del	DEL	pfam_SRCR,pfam_BACK,superfamily_Srcr_rcpt-rel,superfamily_BTB/POZ_fold,smart_Srcr_rcpt-rel,smart_BACK,pfscan_BTB/POZ-like,pfscan_SRCR,prints_SRCR	p.DLAVPS312in_frame_del	ENST00000262776.3	37	c.953_936	CCDS11759.1	17																																																																																			LGALS3BP	-	pfam_BACK,smart_BACK	ENSG00000108679		0.665	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS3BP	HGNC	protein_coding	OTTHUMT00000437785.3		0.00	27	0	TCGCTGGGCACCGCCAGG	NM_005567		76968480	-1			no_errors	ENST00000262776	ensembl	human	known	74_37	in_frame_del	7.04	66	5	DEL	0.996:1.000:1.000:1.000:1.000:0.993:0.989:0.952:0.941:0.902:0.724:0.021:0.122:0.961:0.997:0.997:0.986:0.944	0
LHCGR	3973	genome.wustl.edu	37	2	48915637	48915637	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:48915637C>T	ENST00000294954.7	-	11	1320	c.1299G>A	c.(1297-1299)tgG>tgA	p.W433*	LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Nonsense_Mutation_p.W406*|LHCGR_ENST00000344775.3_Nonsense_Mutation_p.W371*|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_Intron	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	433					activation of adenylate cyclase activity (GO:0007190)|cellular response to gonadotropin stimulus (GO:0071371)|cognition (GO:0050890)|development of secondary male sexual characteristics (GO:0046544)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|male genitalia development (GO:0030539)|male gonad development (GO:0008584)|ovarian follicle development (GO:0001541)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|regulation of steroid hormone biosynthetic process (GO:0090030)|seminiferous tubule development (GO:0072520)|spermatogenesis (GO:0007283)|uterus development (GO:0060065)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	choriogonadotropin hormone binding (GO:0038106)|choriogonadotropin hormone receptor activity (GO:0035472)|luteinizing hormone receptor activity (GO:0004964)			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Buserelin(DB06719)|Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TCCCTGTCTGCCAGTCTATGG	0.493																																																	0													74.0	63.0	66.0					2																	48915637		2203	4300	6503	SO:0001587	stop_gained	0				CCDS1842.1	2p21	2012-08-10			ENSG00000138039	ENSG00000138039		"""GPCR / Class A : Gonadotropin and TSH receptors"""	6585	protein-coding gene	gene with protein product		152790	"""hypergonadotropic hypogonadism"""	HHG			Standard	NM_000233		Approved	LHR, LCGR, LGR2, ULG5	uc002rwu.4	P22888	OTTHUMG00000129257	ENST00000294954.7:c.1299G>A	2.37:g.48915637C>T	ENSP00000294954:p.Trp433*		Q14751|Q15996|Q9UEW9	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.W433*	ENST00000294954.7	37	c.1299	CCDS1842.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.387099	0.95988	.	.	ENSG00000138039	ENST00000344775;ENST00000294954;ENST00000405626	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2939	0.94114	0.0:1.0:0.0:0.0	.	.	.	.	X	371;433;406	.	.	W	-	3	0	LHCGR	48769141	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.814000	0.86154	2.791000	0.96007	0.655000	0.94253	TGG	LHCGR	-	pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam,pfscan_GPCR_Rhodpsn_7TM	ENSG00000138039		0.493	LHCGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHCGR	HGNC	protein_coding	OTTHUMT00000251364.4	-	0.00	64	0	C	NM_000233.3		48915637	-1	tier1	-	no_errors	ENST00000294954	ensembl	human	known	74_37	nonsense	5.33	71	4	SNP	1.000	T
LINC00687	728450	genome.wustl.edu	37	20	11830171	11830174	+	IGR	DEL	TCTC	TCTC	-			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	TCTC	TCTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr20:11830171_11830174delTCTC								RN7SKP111 (30432 upstream) : BTBD3 (41196 downstream)																							Gttctacctttctctctctctttt	0.387																																																	0																																										SO:0001628	intergenic_variant	0																															20.37:g.11830175_11830178delTCTC				RNA	DEL	-	NULL		37	NULL		20																																																																																			LINC00687	-	-	ENSG00000228422	0	0.387					LINC00687	HGNC				0.00	37	0	TCTC			11830174	-1	tier1		no_errors	ENST00000427835	ensembl	human	known	74_37	rna	30.43	32	14	DEL	0.000:0.000:0.000:0.000	-
RP11-340I6.7	0	genome.wustl.edu	37	7	63361328	63361328	+	lincRNA	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:63361328G>T	ENST00000587736.1	-	0	0				AC092634.1_ENST00000585312.1_RNA|RP11-340I6.8_ENST00000450544.1_lincRNA																							GAGGCGGGCAGCCCAGGAGGG	0.622																																																	0																																												0																															7.37:g.63361328G>T				RNA	SNP	-	NULL	ENST00000587736.1	37	NULL		7																																																																																			RP11-340I6.8	-	-	ENSG00000226581		0.622	RP11-340I6.7-003	KNOWN	basic	lincRNA	LOC101930193	Clone_based_vega_gene	lincRNA	OTTHUMT00000447757.1	-	0.00	8	0	G			63361328	+1	tier1	-	no_errors	ENST00000450544	ensembl	human	known	74_37	rna	41.18	10	7	SNP	0.002	T
AATBC	284837	genome.wustl.edu	37	21	45232041	45232041	+	RNA	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr21:45232041C>T	ENST00000400385.2	-	0	407				AP001053.11_ENST00000448247.1_RNA|AP001053.11_ENST00000437258.1_RNA|AP001053.11_ENST00000543603.1_RNA	NR_026961.1																						TCGTCCGTCCCATGGTTTCAG	0.607																																																	0																																												0																															21.37:g.45232041C>T				RNA	SNP	-	NULL	ENST00000400385.2	37	NULL		21																																																																																			AP001053.11	-	-	ENSG00000215458		0.607	AP001053.11-002	KNOWN	basic	antisense	LOC284837	Clone_based_vega_gene	antisense	OTTHUMT00000195677.1	-	0.00	38	0	C			45232041	-1	tier1	-	no_errors	ENST00000400385	ensembl	human	known	74_37	rna	27.42	45	17	SNP	0.000	T
LRBA	987	genome.wustl.edu	37	4	151771892	151771892	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:151771892T>C	ENST00000357115.3	-	24	4231	c.3988A>G	c.(3988-3990)Ata>Gta	p.I1330V	LRBA_ENST00000510413.1_Missense_Mutation_p.I1330V|LRBA_ENST00000535741.1_Missense_Mutation_p.I1330V|LRBA_ENST00000507224.1_Missense_Mutation_p.I1330V	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1330						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CACATCTGTATATCTGTTTCT	0.333																																																	0													88.0	87.0	87.0					4																	151771892		2203	4300	6503	SO:0001583	missense	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.3988A>G	4.37:g.151771892T>C	ENSP00000349629:p.Ile1330Val		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.I1330V	ENST00000357115.3	37	c.3988	CCDS3773.1	4	.	.	.	.	.	.	.	.	.	.	T	4.805	0.149584	0.09185	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.54279	0.98;1.13;0.98;0.58	5.97	5.97	0.96955	.	0.054186	0.64402	D	0.000001	T	0.35219	0.0924	N	0.20483	0.58	0.46874	D	0.999238	B;B	0.14012	0.009;0.009	B;B	0.16722	0.007;0.016	T	0.22243	-1.0222	10	0.12103	T	0.63	.	11.4724	0.50278	0.0:0.0695:0.0:0.9305	.	1330;1330	P50851;P50851-2	LRBA_HUMAN;.	V	1330	ENSP00000446299:I1330V;ENSP00000421552:I1330V;ENSP00000349629:I1330V;ENSP00000422180:I1330V	ENSP00000349629:I1330V	I	-	1	0	LRBA	151991342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.509000	0.53386	2.287000	0.76781	0.482000	0.46254	ATA	LRBA	-	NULL	ENSG00000198589		0.333	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	-	0.00	38	0	T			151771892	-1	tier1	-	no_errors	ENST00000357115	ensembl	human	known	74_37	missense	21.05	30	8	SNP	1.000	C
MAGEC1	9947	genome.wustl.edu	37	X	140994968	140994968	+	Missense_Mutation	SNP	A	A	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:140994968A>T	ENST00000285879.4	+	4	2064	c.1778A>T	c.(1777-1779)cAc>cTc	p.H593L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	593										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTCTCCTCACTACTTTCCT	0.572										HNSCC(15;0.026)																																							0													229.0	244.0	239.0					X																	140994968		2203	4300	6503	SO:0001583	missense	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1778A>T	X.37:g.140994968A>T	ENSP00000285879:p.His593Leu		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.H593L	ENST00000285879.4	37	c.1778	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	a	0.113	-1.136291	0.01742	.	.	ENSG00000155495	ENST00000285879	T	0.02067	4.47	0.118	-0.237	0.13061	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.47394	-0.9121	9	0.02654	T	1	.	3.3057	0.06998	0.3623:0.0:0.0:0.6377	.	593	O60732	MAGC1_HUMAN	L	593	ENSP00000285879:H593L	ENSP00000285879:H593L	H	+	2	0	MAGEC1	140822634	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.617000	0.05584	-1.408000	0.02040	-1.471000	0.01009	CAC	MAGEC1	-	NULL	ENSG00000155495		0.572	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	0.00	74	0	A	NM_005462		140994968	+1	tier1	-	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	26.51	61	22	SNP	0.015	T
MAGEC1	9947	genome.wustl.edu	37	X	140994984	140994984	+	Silent	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:140994984C>T	ENST00000285879.4	+	4	2080	c.1794C>T	c.(1792-1794)agC>agT	p.S598S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	598										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTCAGAGCCCTCCTCAGG	0.582										HNSCC(15;0.026)																																							0													217.0	231.0	226.0					X																	140994984		2203	4300	6503	SO:0001819	synonymous_variant	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1794C>T	X.37:g.140994984C>T			A0PK03|O75451|Q8TCV4	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.S598	ENST00000285879.4	37	c.1794	CCDS35417.1	X																																																																																			MAGEC1	-	NULL	ENSG00000155495		0.582	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	0.00	82	0	C	NM_005462		140994984	+1	tier1	-	no_errors	ENST00000285879	ensembl	human	known	74_37	silent	17.07	68	14	SNP	0.967	T
MAGEC1	9947	genome.wustl.edu	37	X	140994985	140994987	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:140994985_140994987delCCT	ENST00000285879.4	+	4	2081_2083	c.1795_1797delCCT	c.(1795-1797)cctdel	p.P600del	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	600								p.P599T(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCAGAGCCCTCCTCAGGGGG	0.581										HNSCC(15;0.026)																																							1	Substitution - Missense(1)	lung(1)								3,3706		0,1,2,1585,535						1.0	0.0			226	8,6452		0,5,3,2341,1765	no	coding	MAGEC1	NM_005462.4		0,6,5,3926,2300	A1A1,A1R,A1,RR,R		0.1238,0.0809,0.1082				11,10158				SO:0001651	inframe_deletion	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1795_1797delCCT	X.37:g.140994988_140994990delCCT	ENSP00000285879:p.Pro600del		A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	pfam_MAGE,pfscan_MAGE	p.P600in_frame_del	ENST00000285879.4	37	c.1795_1797	CCDS35417.1	X																																																																																			MAGEC1	-	NULL	ENSG00000155495		0.581	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1		0.00	81	0	CCT	NM_005462		140994987	+1	tier1		no_errors	ENST00000285879	ensembl	human	known	74_37	in_frame_del	39.51	49	32	DEL	0.972:0.982:0.991	-
MAGEC1	9947	genome.wustl.edu	37	X	140995006	140995006	+	Missense_Mutation	SNP	A	A	C			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:140995006A>C	ENST00000285879.4	+	4	2102	c.1816A>C	c.(1816-1818)Atg>Ctg	p.M606L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	606										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGACTCCATGTCTCCTCT	0.577										HNSCC(15;0.026)																																							0													201.0	213.0	209.0					X																	140995006		2203	4300	6503	SO:0001583	missense	0			AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1816A>C	X.37:g.140995006A>C	ENSP00000285879:p.Met606Leu		A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.M606L	ENST00000285879.4	37	c.1816	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	a	1.893	-0.455034	0.04540	.	.	ENSG00000155495	ENST00000285879	T	0.01947	4.54	0.96	-1.92	0.07618	.	.	.	.	.	T	0.01254	0.0041	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.47799	-0.9089	9	0.13853	T	0.58	.	8.422	0.32707	0.2365:0.7634:0.0:0.0	.	606	O60732	MAGC1_HUMAN	L	606	ENSP00000285879:M606L	ENSP00000285879:M606L	M	+	1	0	MAGEC1	140822672	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-3.901000	0.00338	-2.973000	0.00285	-3.046000	0.00070	ATG	MAGEC1	-	NULL	ENSG00000155495		0.577	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	-	0.00	79	0	A	NM_005462		140995006	+1	tier1	-	no_errors	ENST00000285879	ensembl	human	known	74_37	missense	55.56	32	40	SNP	0.064	C
MANBA	4126	genome.wustl.edu	37	4	103571709	103571709	+	Silent	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:103571709G>T	ENST00000226578.4	-	13	1953	c.1854C>A	c.(1852-1854)acC>acA	p.T618T	MANBA_ENST00000505239.1_Silent_p.T561T	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	618					cellular protein modification process (GO:0006464)|glycoprotein catabolic process (GO:0006516)|mannan catabolic process (GO:0046355)	intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)	beta-mannosidase activity (GO:0004567)|mannose binding (GO:0005537)			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TAAGGTAGATGGTATCTTTAA	0.373																																																	0													225.0	222.0	223.0					4																	103571709		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS3658.1	4q24	2013-09-20			ENSG00000109323	ENSG00000109323	3.2.1.25		6831	protein-coding gene	gene with protein product		609489				7876128	Standard	NM_005908		Approved		uc003hwg.3	O00462	OTTHUMG00000131123	ENST00000226578.4:c.1854C>A	4.37:g.103571709G>T			Q96BC3|Q9NYX9	Silent	SNP	pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like	p.T618	ENST00000226578.4	37	c.1854	CCDS3658.1	4																																																																																			MANBA	-	superfamily_Glycoside_hydrolase_SF	ENSG00000109323		0.373	MANBA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MANBA	HGNC	protein_coding	OTTHUMT00000253803.2	-	0.00	76	0	G			103571709	-1	tier1	-	no_errors	ENST00000226578	ensembl	human	known	74_37	silent	6.25	60	4	SNP	0.312	T
MAP1B	4131	genome.wustl.edu	37	5	71479594	71479594	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:71479594G>T	ENST00000296755.7	+	3	609	c.311G>T	c.(310-312)aGt>aTt	p.S104I		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	104					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATCACCGAAGTGACGTTTTA	0.498																																					Melanoma(17;367 822 11631 31730 47712)												0													149.0	140.0	143.0					5																	71479594		2203	4300	6503	SO:0001583	missense	0			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.311G>T	5.37:g.71479594G>T	ENSP00000296755:p.Ser104Ile		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.S104I	ENST00000296755.7	37	c.311	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	29.9	5.043710	0.93685	.	.	ENSG00000131711	ENST00000512974;ENST00000296755;ENST00000511641	T;T;T	0.38560	3.61;1.13;1.13	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.66809	0.2827	M	0.73962	2.25	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.70676	-0.4806	10	0.87932	D	0	-9.1564	18.9656	0.92695	0.0:0.0:1.0:0.0	.	104	P46821	MAP1B_HUMAN	I	104	ENSP00000426312:S104I;ENSP00000296755:S104I;ENSP00000423444:S104I	ENSP00000296755:S104I	S	+	2	0	MAP1B	71515350	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.231000	0.95317	2.543000	0.85770	0.637000	0.83480	AGT	MAP1B	-	NULL	ENSG00000131711		0.498	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	-	0.00	57	0	G	NM_005909		71479594	+1	tier1	-	no_errors	ENST00000296755	ensembl	human	known	74_37	missense	6.56	57	4	SNP	1.000	T
MAPK1	5594	genome.wustl.edu	37	22	22123604	22123604	+	Silent	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr22:22123604G>T	ENST00000215832.6	-	8	1160	c.972C>A	c.(970-972)atC>atA	p.I324I	MAPK1_ENST00000491588.1_5'UTR|MAPK1_ENST00000398822.3_Silent_p.I324I|MAPK1_ENST00000544786.1_Silent_p.I280I	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	324					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	GTGCTTCGGCGATGGGCTTTA	0.378																																																	0													71.0	69.0	70.0					22																	22123604		2203	4300	6503	SO:0001819	synonymous_variant	0			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.972C>A	22.37:g.22123604G>T			A8CZ64	Silent	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.I324	ENST00000215832.6	37	c.972	CCDS13795.1	22																																																																																			MAPK1	-	superfamily_Kinase-like_dom	ENSG00000100030		0.378	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	HGNC	protein_coding	OTTHUMT00000075396.2	-	0.00	89	0	G			22123604	-1	tier1	-	no_errors	ENST00000215832	ensembl	human	known	74_37	silent	5.13	74	4	SNP	0.015	T
MAPK1IP1L	93487	genome.wustl.edu	37	14	55529950	55529950	+	Silent	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:55529950G>A	ENST00000395468.4	+	3	810	c.633G>A	c.(631-633)tcG>tcA	p.S211S		NM_144578.3	NP_653179.1	Q8NDC0	MISSL_HUMAN	mitogen-activated protein kinase 1 interacting protein 1-like	211	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						CTACAGGATCGTATCCCACAC	0.607																																																	0													81.0	76.0	77.0					14																	55529950		2203	4300	6503	SO:0001819	synonymous_variant	0			AK025580	CCDS32085.1	14q22.1	2008-01-30	2008-01-30	2008-01-16		ENSG00000168175			19840	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 32"", ""mitogen activated protein kinase 1 interacting protein 1-like"""	C14orf32		12011110	Standard	NM_144578		Approved		uc001xbq.1	Q8NDC0		ENST00000395468.4:c.633G>A	14.37:g.55529950G>A			B2RDD8|Q96BG5	Silent	SNP	NULL	p.S211	ENST00000395468.4	37	c.633	CCDS32085.1	14																																																																																			MAPK1IP1L	-	NULL	ENSG00000168175		0.607	MAPK1IP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK1IP1L	HGNC	protein_coding	OTTHUMT00000411302.2		0.00	31	0	G	NM_144578		55529950	+1			no_errors	ENST00000395468	ensembl	human	known	74_37	silent	6.45	29	2	SNP	0.989	A
MB21D2	151963	genome.wustl.edu	37	3	192635476	192635476	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:192635476C>T	ENST00000392452.2	-	1	474	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	52							protein complex binding (GO:0032403)			endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						CTCTGGTCGTCGTATTCCCGC	0.532																																																	0													139.0	118.0	125.0					3																	192635476		2203	4300	6503	SO:0001583	missense	0			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.154G>A	3.37:g.192635476C>T	ENSP00000376246:p.Asp52Asn		Q86VD8	Missense_Mutation	SNP	pfam_Mab-21_dom	p.D52N	ENST00000392452.2	37	c.154	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619419	0.87460	.	.	ENSG00000180611	ENST00000392452	T	0.47528	0.84	5.77	4.88	0.63580	.	0.057093	0.64402	D	0.000002	T	0.47340	0.1440	L	0.50333	1.59	0.58432	D	0.999995	D	0.61080	0.989	P	0.46917	0.531	T	0.40440	-0.9563	10	0.37606	T	0.19	.	13.988	0.64348	0.0:0.9251:0.0:0.0749	.	52	Q8IYB1	M21D2_HUMAN	N	52	ENSP00000376246:D52N	ENSP00000376246:D52N	D	-	1	0	MB21D2	194118170	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.738000	0.62073	2.727000	0.93392	0.591000	0.81541	GAC	MB21D2	-	NULL	ENSG00000180611		0.532	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1		0.00	15	0	C	NM_178496		192635476	-1			no_errors	ENST00000392452	ensembl	human	known	74_37	missense	10.53	34	4	SNP	1.000	T
MCC	4163	genome.wustl.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082																0																																										SO:0001652	inframe_insertion	0				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup		D3DT05|Q6ZR04	In_Frame_Ins	INS	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm,smart_EF_hand_dom,pfscan_EF_hand_dom	p.21in_frame_insG	ENST00000408903.3	37	c.64_63	CCDS43351.1	5																																																																																			MCC	-	NULL	ENSG00000171444		0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000370839.1		0.00	14	0	-	NM_001085377		112824049	-1	tier1		no_errors	ENST00000408903	ensembl	human	putative	74_37	in_frame_ins	33.33	16	8	INS	0.854:0.894	GCC
MCM3AP	8888	genome.wustl.edu	37	21	47666671	47666671	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr21:47666671C>T	ENST00000397708.1	-	22	4674	c.4420G>A	c.(4420-4422)Gtg>Atg	p.V1474M	MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP_ENST00000291688.1_Missense_Mutation_p.V1474M|MCM3AP-AS1_ENST00000455567.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1474					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AGCCAGTACACGTCCTCCTCT	0.597																																																	0													172.0	169.0	170.0					21																	47666671		2203	4300	6503	SO:0001583	missense	0			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4420G>A	21.37:g.47666671C>T	ENSP00000380820:p.Val1474Met		C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.V1474M	ENST00000397708.1	37	c.4420	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585908	0.28268	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03982	3.74;3.74	5.68	0.0554	0.14315	.	0.418140	0.25738	N	0.028640	T	0.06462	0.0166	L	0.60455	1.87	0.09310	N	1	D	0.60160	0.987	P	0.45276	0.475	T	0.25152	-1.0140	10	0.66056	D	0.02	-3.8845	7.7371	0.28821	0.0:0.5401:0.1145:0.3454	.	1474	O60318	MCM3A_HUMAN	M	1474	ENSP00000380820:V1474M;ENSP00000291688:V1474M	ENSP00000291688:V1474M	V	-	1	0	MCM3AP	46491099	0.254000	0.23992	0.078000	0.20375	0.790000	0.44656	1.275000	0.33144	0.068000	0.16574	-0.142000	0.14014	GTG	MCM3AP	-	NULL	ENSG00000160294		0.597	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	-	0.00	34	0	C	NM_003906		47666671	-1	tier1	-	no_errors	ENST00000291688	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.002	T
MED12L	116931	genome.wustl.edu	37	3	151112592	151112592	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:151112592G>T	ENST00000474524.1	+	37	5690	c.5652G>T	c.(5650-5652)aaG>aaT	p.K1884N	MED12L_ENST00000273432.4_Missense_Mutation_p.K1744N	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1884	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TACAGATGAAGCTTCTGCAGC	0.537																																																	0													75.0	76.0	75.0					3																	151112592		2203	4300	6503	SO:0001583	missense	0			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.5652G>T	3.37:g.151112592G>T	ENSP00000417235:p.Lys1884Asn		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.K1884N	ENST00000474524.1	37	c.5652	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	G	11.67	1.709329	0.30322	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.60797	0.34;0.16	5.91	1.12	0.20585	Mediator complex, subunit Med12, catenin-binding (1);	0.436799	0.25906	N	0.027536	T	0.58495	0.2126	N	0.25647	0.755	0.38130	D	0.938137	D;D	0.62365	0.989;0.991	D;D	0.76071	0.978;0.987	T	0.60520	-0.7247	10	0.66056	D	0.02	-22.1223	7.9875	0.30220	0.4749:0.0:0.5251:0.0	.	1744;1884	F8WAE6;Q86YW9	.;MD12L_HUMAN	N	1884;1744	ENSP00000417235:K1884N;ENSP00000273432:K1744N	ENSP00000273432:K1744N	K	+	3	2	MED12L	152595282	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	0.711000	0.25764	0.421000	0.25980	-0.736000	0.03550	AAG	MED12L	-	pfam_Mediator_Med12_catenin-bd	ENSG00000144893		0.537	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2		0.00	29	0	G	NM_053002		151112592	+1			no_errors	ENST00000474524	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.998	T
MED15	51586	genome.wustl.edu	37	22	20929472	20929472	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr22:20929472G>A	ENST00000263205.7	+	9	1294	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	MED15_ENST00000382974.2_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000292733.7_Intron|MED15_ENST00000541476.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000542773.1_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	409	Pro-rich.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CGCTGTGTCCGCCATCCCGTC	0.622																																																	0													97.0	83.0	88.0					22																	20929472		2203	4300	6503	SO:0001583	missense	0			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.1225G>A	22.37:g.20929472G>A	ENSP00000263205:p.Ala409Thr		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	pfam_Mediator_Med15_met	p.A409T	ENST00000263205.7	37	c.1225	CCDS33602.1	22	.	.	.	.	.	.	.	.	.	.	G	13.66	2.303636	0.40795	.	.	ENSG00000099917	ENST00000263205;ENST00000542312	.	.	.	5.07	0.676	0.17958	Mediator complex, subunit Med15, metazoa (1);	0.517876	0.21015	N	0.081610	T	0.38692	0.1050	L	0.34521	1.04	0.54753	D	0.999983	B;B	0.18863	0.031;0.024	B;B	0.13407	0.009;0.006	T	0.10753	-1.0616	9	0.13853	T	0.58	.	8.6722	0.34156	0.3286:0.0:0.6714:0.0	.	355;409	B4DGD6;Q96RN5	.;MED15_HUMAN	T	409;355	.	ENSP00000263205:A409T	A	+	1	0	MED15	19259472	0.964000	0.33143	0.074000	0.20217	0.659000	0.38960	1.682000	0.37628	0.565000	0.29255	-0.918000	0.02743	GCC	MED15	-	pfam_Mediator_Med15_met	ENSG00000099917		0.622	MED15-004	KNOWN	basic|CCDS	protein_coding	MED15	HGNC	protein_coding	OTTHUMT00000320177.2		0.00	40	0	G	NM_015889		20929472	+1			no_errors	ENST00000263205	ensembl	human	known	74_37	missense	6.90	54	4	SNP	0.352	A
MEGF10	84466	genome.wustl.edu	37	5	126780962	126780962	+	Intron	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:126780962G>A	ENST00000274473.6	+	21	2758				MEGF10_ENST00000503335.2_Intron|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTTTCTCTGGGCATGGATAGG	0.468																																																	0																																										SO:0001627	intron_variant	0			AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.2492-187G>A	5.37:g.126780962G>A			Q68DE5|Q8WUL3	RNA	SNP	-	NULL	ENST00000274473.6	37	NULL	CCDS4142.1	5																																																																																			MEGF10	-	-	ENSG00000145794		0.468	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF10	HGNC	protein_coding	OTTHUMT00000250973.2	-	0.00	17	0	G	NM_032446		126780962	+1	tier1	-	no_errors	ENST00000510828	ensembl	human	known	74_37	rna	77.78	4	14	SNP	0.000	A
MICAL2	9645	genome.wustl.edu	37	11	12247737	12247737	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:12247737G>T	ENST00000256194.4	+	14	1996	c.1708G>T	c.(1708-1710)Gaa>Taa	p.E570*	MICAL2_ENST00000537344.1_Nonsense_Mutation_p.E570*|MICAL2_ENST00000342902.5_Nonsense_Mutation_p.E570*|MICAL2_ENST00000379612.3_Nonsense_Mutation_p.E570*|MICAL2_ENST00000527546.1_Nonsense_Mutation_p.E570*	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	570	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CTCTTTGAATGAAGATGATGC	0.512																																																	0													109.0	114.0	112.0					11																	12247737		2201	4294	6495	SO:0001587	stop_gained	0			AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.1708G>T	11.37:g.12247737G>T	ENSP00000256194:p.Glu570*		B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.E570*	ENST00000256194.4	37	c.1708	CCDS7809.1	11	.	.	.	.	.	.	.	.	.	.	G	41	8.679903	0.98912	.	.	ENSG00000133816	ENST00000537344;ENST00000544073;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	.	18.7846	0.91949	0.0:0.0:1.0:0.0	.	.	.	.	X	570;103;570;570;570;570	.	ENSP00000256194:E570X	E	+	1	0	MICAL2	12204313	1.000000	0.71417	0.967000	0.41034	0.951000	0.60555	9.869000	0.99810	2.526000	0.85167	0.563000	0.77884	GAA	MICAL2	-	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000133816		0.512	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL2	HGNC	protein_coding	OTTHUMT00000385993.1		0.00	33	0	G	NM_014632		12247737	+1			no_errors	ENST00000256194	ensembl	human	known	74_37	nonsense	6.90	54	4	SNP	1.000	T
MRPL37	51253	genome.wustl.edu	37	1	54670731	54670731	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:54670731A>G	ENST00000360840.5	+	2	464	c.387A>G	c.(385-387)atA>atG	p.I129M	MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000605337.1_Missense_Mutation_p.I129M|MRPL37_ENST00000336230.6_Intron	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	129					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CCAAGTTAATAGAAGGCCTTC	0.453																																																	0													90.0	81.0	84.0					1																	54670731		2203	4300	6503	SO:0001583	missense	0			AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.387A>G	1.37:g.54670731A>G	ENSP00000354086:p.Ile129Met		Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	pfam_Ribosomal_L37/S30	p.I129M	ENST00000360840.5	37	c.387	CCDS589.1	1	.	.	.	.	.	.	.	.	.	.	A	12.75	2.030937	0.35797	.	.	ENSG00000116221	ENST00000360840;ENST00000329505	T	0.17691	2.26	5.12	1.26	0.21427	.	0.342816	0.34435	N	0.003961	T	0.10981	0.0268	L	0.46157	1.445	0.80722	D	1	B;B	0.31125	0.202;0.309	B;B	0.31442	0.097;0.13	T	0.15435	-1.0437	10	0.28530	T	0.3	-1.8592	0.869	0.01210	0.4556:0.1414:0.1287:0.2743	.	66;129	E9PB99;Q9BZE1	.;RM37_HUMAN	M	129;66	ENSP00000354086:I129M	ENSP00000328799:I66M	I	+	3	3	MRPL37	54443319	0.901000	0.30685	1.000000	0.80357	0.996000	0.88848	-0.039000	0.12124	0.753000	0.32945	0.533000	0.62120	ATA	MRPL37	-	pfam_Ribosomal_L37/S30	ENSG00000116221		0.453	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL37	HGNC	protein_coding	OTTHUMT00000022224.1	-	0.00	63	0	A	NM_016491		54670731	+1	tier1	-	no_errors	ENST00000360840	ensembl	human	known	74_37	missense	5.33	71	4	SNP	0.979	G
MS4A6A	64231	genome.wustl.edu	37	11	59939661	59939661	+	Silent	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:59939661G>A	ENST00000530839.1	-	8	1209	c.717C>T	c.(715-717)gaC>gaT	p.D239D	MS4A6A_ENST00000426738.2_3'UTR|MS4A6A_ENST00000529054.1_Silent_p.D267D|MS4A6A_ENST00000323961.3_Silent_p.D239D|MS4A6A_ENST00000420732.2_3'UTR|MS4A6A_ENST00000528851.1_3'UTR	NM_152852.2	NP_690591.1	Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	239						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATATCCACAGTCATGAGTCA	0.318																																																	0													135.0	133.0	134.0					11																	59939661		2201	4292	6493	SO:0001819	synonymous_variant	0			AB013104	CCDS7981.1, CCDS44615.1, CCDS44616.1, CCDS58134.1	11q12.1	2008-03-25			ENSG00000110077	ENSG00000110077			13375	protein-coding gene	gene with protein product		606548		MS4A6		11245982, 11401424	Standard	NM_152852		Approved	CD20L3	uc010rla.2	Q9H2W1	OTTHUMG00000167241	ENST00000530839.1:c.717C>T	11.37:g.59939661G>A			A8K755|F8W9K1|Q7Z4E8|Q8TBV7|Q8TEZ4|Q8TEZ5|Q96PG6|Q9H2L1|Q9H2N3|Q9H3V1|Q9HC76	Silent	SNP	pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt	p.D239	ENST00000530839.1	37	c.717	CCDS7981.1	11																																																																																			MS4A6A	-	NULL	ENSG00000110077		0.318	MS4A6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A6A	HGNC	protein_coding	OTTHUMT00000393848.1	-	0.00	43	0	G			59939661	-1	tier1	-	no_errors	ENST00000323961	ensembl	human	known	74_37	silent	42.00	29	21	SNP	0.000	A
MUTYH	4595	genome.wustl.edu	37	1	45800071	45800071	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:45800071G>T	ENST00000372098.3	-	2	282	c.149C>A	c.(148-150)gCc>gAc	p.A50D	MUTYH_ENST00000354383.6_Missense_Mutation_p.A36D|MUTYH_ENST00000531105.1_Missense_Mutation_p.A36D|MUTYH_ENST00000528013.2_Missense_Mutation_p.A36D|MUTYH_ENST00000456914.2_Missense_Mutation_p.A36D|MUTYH_ENST00000488731.2_Missense_Mutation_p.A36D|MUTYH_ENST00000372100.5_Missense_Mutation_p.A36D|MUTYH_ENST00000450313.1_Missense_Mutation_p.A50D|MUTYH_ENST00000355498.2_Missense_Mutation_p.A36D|MUTYH_ENST00000372115.3_Missense_Mutation_p.A50D|MUTYH_ENST00000372110.3_Missense_Mutation_p.A50D|MUTYH_ENST00000448481.1_Missense_Mutation_p.A36D|MUTYH_ENST00000372104.1_Missense_Mutation_p.A36D|MUTYH_ENST00000529984.1_Missense_Mutation_p.A36D|MUTYH_ENST00000528332.2_Missense_Mutation_p.A50D			Q9UIF7	MUTYH_HUMAN	mutY homolog	50					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ACCATCACAGGCAGAAGGCTT	0.537			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																														yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	0													175.0	134.0	148.0					1																	45800071		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.149C>A	1.37:g.45800071G>T	ENSP00000361170:p.Ala50Asp		D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Missense_Mutation	SNP	pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.A50D	ENST00000372098.3	37	c.149	CCDS520.1	1	.	.	.	.	.	.	.	.	.	.	G	5.095	0.203081	0.09704	.	.	ENSG00000132781	ENST00000529984;ENST00000528332;ENST00000372104;ENST00000448481;ENST00000456914;ENST00000354383;ENST00000355498;ENST00000372098;ENST00000372110;ENST00000372115;ENST00000488731;ENST00000450313;ENST00000372100;ENST00000531105;ENST00000435155;ENST00000528013;ENST00000483127	T;D;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.91945	2.34;-2.94;3.2;3.13;3.2;3.22;3.2;3.1;3.21;3.18;2.34;3.11;3.13;0.47;1.81;0.81;0.86	3.97	-1.7	0.08159	.	1.606680	0.03449	N	0.210393	D	0.85239	0.5651	L	0.38175	1.15	0.09310	N	1	B;B;B;B;B;B	0.09022	0.0;0.0;0.0;0.0;0.002;0.0	B;B;B;B;B;B	0.06405	0.002;0.0;0.001;0.001;0.001;0.0	T	0.67452	-0.5667	10	0.25751	T	0.34	0.6755	2.2748	0.04100	0.0979:0.3183:0.2799:0.3039	.	50;50;50;50;50;36	B4DEX2;E5KP25;Q9UIF7-2;Q9UIF7;E5KP27;E5KP28	.;.;.;MUTYH_HUMAN;.;.	D	36;50;36;36;36;36;36;50;50;50;36;50;36;36;36;36;42	ENSP00000437093:A36D;ENSP00000433076:A50D;ENSP00000361176:A36D;ENSP00000409718:A36D;ENSP00000407590:A36D;ENSP00000346354:A36D;ENSP00000347685:A36D;ENSP00000361170:A50D;ENSP00000361182:A50D;ENSP00000361187:A50D;ENSP00000432330:A36D;ENSP00000408176:A50D;ENSP00000361172:A36D;ENSP00000431292:A36D;ENSP00000403655:A36D;ENSP00000433130:A36D;ENSP00000436469:A42D	ENSP00000346354:A36D	A	-	2	0	MUTYH	45572658	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.475000	0.06599	-0.274000	0.09232	-0.175000	0.13238	GCC	MUTYH	-	NULL	ENSG00000132781		0.537	MUTYH-002	KNOWN	basic|CCDS	protein_coding	MUTYH	HGNC	protein_coding	OTTHUMT00000020529.1		0.00	53	0	G	NM_012222		45800071	-1			no_errors	ENST00000450313	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.000	T
MVK	4598	genome.wustl.edu	37	12	110019329	110019329	+	Silent	SNP	G	G	T	rs104895310		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:110019329G>T	ENST00000228510.3	+	5	577	c.501G>T	c.(499-501)ccG>ccT	p.P167P	MVK_ENST00000539575.1_Intron|MVK_ENST00000541384.1_Intron|MVK_ENST00000392727.3_Intron|MVK_ENST00000539696.1_Intron|MVK_ENST00000535044.1_Intron	NM_000431.2|NM_001114185.1	NP_000422.1|NP_001107657.1	Q03426	KIME_HUMAN	mevalonate kinase	167			P -> L (in HIDS). {ECO:0000269|PubMed:10369262, ECO:0000269|PubMed:11313769}.		cholesterol biosynthetic process (GO:0006695)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|negative regulation of inflammatory response (GO:0050728)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|mevalonate kinase activity (GO:0004496)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						TCCCAAACCCGCTGAAGGACG	0.662																																																	0													86.0	83.0	84.0					12																	110019329		2203	4300	6503	SO:0001819	synonymous_variant	0			M88468	CCDS9132.1, CCDS73522.1	12q24	2014-09-17	2008-01-30		ENSG00000110921	ENSG00000110921	2.7.1.36		7530	protein-coding gene	gene with protein product	"""LH receptor mRNA-binding protein"", ""mevalonic aciduria"""	251170	"""mevalonate kinase (mevalonic aciduria)"""			1377680	Standard	XM_005253883		Approved	LRBP, MK	uc001toy.4	Q03426	OTTHUMG00000169256	ENST00000228510.3:c.501G>T	12.37:g.110019329G>T				Silent	SNP	pfam_GHMP_kinase_N_dom,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,prints_Mevalonate/galactokinase,prints_Galkinase,tigrfam_Mev_gal_kin	p.P167	ENST00000228510.3	37	c.501	CCDS9132.1	12																																																																																			MVK	-	pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_Mev_gal_kin	ENSG00000110921		0.662	MVK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVK	HGNC	protein_coding	OTTHUMT00000403143.1	-	0.00	73	0	G	NM_000431		110019329	+1	tier1	-	no_errors	ENST00000228510	ensembl	human	known	74_37	silent	42.42	38	28	SNP	0.018	T
NCF2	4688	genome.wustl.edu	37	1	183543652	183543652	+	Silent	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:183543652G>T	ENST00000367535.3	-	4	722	c.471C>A	c.(469-471)tcC>tcA	p.S157S	NCF2_ENST00000418089.1_Intron|NCF2_ENST00000367536.1_Silent_p.S157S|NCF2_ENST00000413720.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	157					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cellular response to hormone stimulus (GO:0032870)|innate immune response (GO:0045087)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron apoptotic process (GO:0043525)|respiratory burst (GO:0045730)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucose (GO:0009749)|response to hyperoxia (GO:0055093)|response to laminar fluid shear stress (GO:0034616)|response to lipopolysaccharide (GO:0032496)|response to progesterone (GO:0032570)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|NADPH oxidase complex (GO:0043020)|nucleolus (GO:0005730)|phagolysosome (GO:0032010)	electron carrier activity (GO:0009055)|protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30					Dextromethorphan(DB00514)	TGTCGATTTTGGAATGTCTGG	0.453																																																	0													330.0	297.0	308.0					1																	183543652		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001606	CCDS1356.1, CCDS53446.1, CCDS53447.1	1q25	2014-09-17	2008-07-31		ENSG00000116701	ENSG00000116701		"""Tetratricopeptide (TTC) repeat domain containing"""	7661	protein-coding gene	gene with protein product	"""NADPH oxidase activator 2"", ""chronic granulomatous disease, autosomal 2"""	608515	"""neutrophil cytosolic factor 2 (65kD, chronic granulomatous disease, autosomal 2)"""				Standard	NM_000433		Approved	p67phox, NOXA2	uc001gqk.4	P19878	OTTHUMG00000035329	ENST00000367535.3:c.471C>A	1.37:g.183543652G>T			B2R6Q1|B4DKQ7|B4DQA7|E9PHJ2|E9PHX3|Q2PP06|Q8NFC7|Q9BV51	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_TPR_1,pfam_OPR_PB1,superfamily_SH3_domain,smart_TPR_repeat,smart_SH3_domain,smart_OPR_PB1,pfscan_SH3_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_p67phox,prints_SH3_domain	p.S157	ENST00000367535.3	37	c.471	CCDS1356.1	1																																																																																			NCF2	-	NULL	ENSG00000116701		0.453	NCF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NCF2	HGNC	protein_coding	OTTHUMT00000085483.1	-	0.00	44	0	G	NM_000433		183543652	-1	tier1	-	no_errors	ENST00000367535	ensembl	human	known	74_37	silent	5.56	68	4	SNP	0.937	T
NAV1	89796	genome.wustl.edu	37	1	201763801	201763801	+	Intron	SNP	A	A	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:201763801A>G	ENST00000367296.4	+	15	3937				NAV1_ENST00000367300.3_Intron|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Intron|NAV1_ENST00000367297.4_Intron|NAV1_ENST00000295624.6_Intron|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000469130.1_3'UTR	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1						microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CAAGTCCTATATCAAGTCTCT	0.483																																																	0																																										SO:0001627	intron_variant	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.3517+96A>G	1.37:g.201763801A>G			A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	RNA	SNP	-	NULL	ENST00000367296.4	37	NULL	CCDS1414.2	1																																																																																			NAV1	-	-	ENSG00000134369		0.483	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	-	0.00	35	0	A	NM_020443		201763801	+1	tier1	-	no_errors	ENST00000469130	ensembl	human	known	74_37	rna	39.58	29	19	SNP	0.007	G
NDUFV3	4731	genome.wustl.edu	37	21	44329103	44329103	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr21:44329103C>A	ENST00000340344.4	+	3	365	c.299C>A	c.(298-300)tCc>tAc	p.S100Y	NDUFV3_ENST00000354250.2_Missense_Mutation_p.S465Y|NDUFV3_ENST00000460259.1_3'UTR	NM_001001503.1	NP_001001503.1	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	100					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)		CCTCAGCCCTCCTCAGGCCGG	0.512																																																	0													207.0	187.0	194.0					21																	44329103		2203	4300	6503	SO:0001583	missense	0				CCDS33572.1, CCDS33573.1	21q22.3	2011-07-04	2002-08-29		ENSG00000160194	ENSG00000160194	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7719	protein-coding gene	gene with protein product	"""complex I 10kDa subunit"""	602184	"""NADH dehydrogenase (ubiquinone) flavoprotein 3 (10kD)"""			9344673	Standard	NM_021075		Approved	CI-10k	uc002zcm.3	P56181	OTTHUMG00000086823	ENST00000340344.4:c.299C>A	21.37:g.44329103C>A	ENSP00000342895:p.Ser100Tyr		A8K0M1|J3KNX7|Q6FGD3|Q8WU60|Q9HCR5	Missense_Mutation	SNP	NULL	p.S465Y	ENST00000340344.4	37	c.1394	CCDS33573.1	21	.	.	.	.	.	.	.	.	.	.	C	20.8	4.054096	0.75960	.	.	ENSG00000160194	ENST00000354250;ENST00000340344;ENST00000398198	.	.	.	6.01	5.13	0.70059	.	0.129968	0.52532	D	0.000069	T	0.78541	0.4299	M	0.76002	2.32	0.51012	D	0.999905	D;D	0.89917	0.983;1.0	P;D	0.72982	0.864;0.979	T	0.81699	-0.0814	9	0.87932	D	0	-9.1819	15.3969	0.74801	0.0:0.9334:0.0:0.0666	.	100;465	P56181;P56181-2	NDUV3_HUMAN;.	Y	465;100;104	.	ENSP00000342895:S100Y	S	+	2	0	NDUFV3	43202172	1.000000	0.71417	0.875000	0.34327	0.581000	0.36288	6.709000	0.74665	1.572000	0.49736	0.644000	0.83932	TCC	NDUFV3	-	NULL	ENSG00000160194		0.512	NDUFV3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFV3	HGNC	protein_coding	OTTHUMT00000195448.2	-	0.00	29	0	C			44329103	+1	tier1	-	no_errors	ENST00000354250	ensembl	human	known	74_37	missense	44.44	20	16	SNP	0.998	A
NEDD4L	23327	genome.wustl.edu	37	18	55983218	55983218	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr18:55983218G>C	ENST00000400345.3	+	6	585	c.302G>C	c.(301-303)cGa>cCa	p.R101P	NEDD4L_ENST00000382850.4_Missense_Mutation_p.R101P|NEDD4L_ENST00000256832.7_5'UTR|NEDD4L_ENST00000456986.1_5'UTR|NEDD4L_ENST00000435432.2_5'UTR|NEDD4L_ENST00000357895.5_Missense_Mutation_p.R93P|NEDD4L_ENST00000586263.1_Missense_Mutation_p.R93P|NEDD4L_ENST00000256830.9_Missense_Mutation_p.R101P|NEDD4L_ENST00000431212.2_5'UTR|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_Missense_Mutation_p.R101P|NEDD4L_ENST00000456173.2_5'UTR	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	101	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TAACAGACACGAGACGACTTC	0.473																																																	0													176.0	183.0	181.0					18																	55983218		1967	4150	6117	SO:0001583	missense	0			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.302G>C	18.37:g.55983218G>C	ENSP00000383199:p.Arg101Pro		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom	p.R101P	ENST00000400345.3	37	c.302	CCDS45872.1	18	.	.	.	.	.	.	.	.	.	.	G	30	5.057112	0.93846	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000357895	T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47	5.86	5.86	0.93980	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	3.967790	0.01103	N	0.005429	D	0.84986	0.5594	L	0.43554	1.36	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;0.995;1.0;1.0	T	0.69472	-0.5136	10	0.87932	D	0	.	20.1865	0.98220	0.0:0.0:1.0:0.0	.	93;93;101;101;101	Q96PU5-6;Q96PU5-7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;NED4L_HUMAN;.	P	101;101;101;101;93	ENSP00000383199:R101P;ENSP00000372301:R101P;ENSP00000348847:R101P;ENSP00000256830:R101P;ENSP00000350569:R93P	ENSP00000256830:R101P	R	+	2	0	NEDD4L	54134198	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.653000	0.91088	2.775000	0.95449	0.655000	0.94253	CGA	NEDD4L	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000049759		0.473	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	-	0.00	90	0	G			55983218	+1	tier1	-	no_errors	ENST00000400345	ensembl	human	known	74_37	missense	33.78	49	25	SNP	1.000	C
NEK8	284086	genome.wustl.edu	37	17	27062333	27062333	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:27062333G>T	ENST00000268766.6	+	4	596	c.562G>T	c.(562-564)Gcc>Tcc	p.A188S	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	188	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGACATCTGGGCCCTGGGCTG	0.577																																					NSCLC(6;19 293 14866 25253 49845)												0													58.0	53.0	55.0					17																	27062333		2203	4300	6503	SO:0001583	missense	0			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.562G>T	17.37:g.27062333G>T	ENSP00000268766:p.Ala188Ser		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A188S	ENST00000268766.6	37	c.562	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	G	37	6.200220	0.97371	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.12255	2.7;2.7	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051156	0.85682	D	0.000000	T	0.11410	0.0278	N	0.04090	-0.28	0.80722	D	1	P	0.45634	0.863	P	0.49276	0.605	T	0.40496	-0.9560	10	0.15499	T	0.54	.	18.8895	0.92392	0.0:0.0:1.0:0.0	.	188	Q86SG6	NEK8_HUMAN	S	188	ENSP00000465859:A188S;ENSP00000268766:A188S	ENSP00000268766:A188S	A	+	1	0	NEK8	24086460	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.622000	0.98378	2.704000	0.92352	0.549000	0.68633	GCC	NEK8	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000160602		0.577	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2	-	0.00	53	0	G			27062333	+1	tier1	-	no_errors	ENST00000268766	ensembl	human	known	74_37	missense	5.80	65	4	SNP	1.000	T
NFE2L2	4780	genome.wustl.edu	37	2	178098800	178098800	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:178098800T>G	ENST00000397062.3	-	2	799	c.245A>C	c.(244-246)gAa>gCa	p.E82A	NFE2L2_ENST00000446151.2_Missense_Mutation_p.E66A|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E66A|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E66A|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E66A	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	82					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E82G(3)|p.G81_F83delGEF(1)|p.E82V(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TGGGAGAAATTCACCTGTCTC	0.433			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	5	Substitution - Missense(4)|Deletion - In frame(1)	liver(3)|lung(1)|oesophagus(1)											137.0	137.0	137.0					2																	178098800		1900	4105	6005	SO:0001583	missense	0				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.245A>C	2.37:g.178098800T>G	ENSP00000380252:p.Glu82Ala		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E82A	ENST00000397062.3	37	c.245	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	T	28.7	4.942622	0.92526	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T	0.37235	1.69;1.69;1.69;1.21;1.21;1.69	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.66287	0.2774	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.85130	0.996;0.989;0.997;0.996	T	0.72959	-0.4133	10	0.87932	D	0	.	16.098	0.81144	0.0:0.0:0.0:1.0	.	66;66;66;82	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	A	66;82;66;66;66;66	ENSP00000380253:E66A;ENSP00000380252:E82A;ENSP00000411575:E66A;ENSP00000400073:E66A;ENSP00000412191:E66A;ENSP00000410015:E66A	ENSP00000380252:E82A	E	-	2	0	NFE2L2	177807046	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.503000	0.81632	2.210000	0.71456	0.460000	0.39030	GAA	NFE2L2	-	NULL	ENSG00000116044		0.433	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	-	0.00	76	0	T	NM_006164		178098800	-1	tier1	-	no_errors	ENST00000397062	ensembl	human	known	74_37	missense	69.59	45	103	SNP	1.000	G
NFKBID	84807	genome.wustl.edu	37	19	36387648	36387648	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:36387648T>C	ENST00000396901.1	-	6	811	c.238A>G	c.(238-240)Att>Gtt	p.I80V	NFKBID_ENST00000585544.1_5'Flank|NFKBID_ENST00000606253.1_Missense_Mutation_p.I80V|NFKBID_ENST00000352614.2_Missense_Mutation_p.I232V	NM_139239.1	NP_640332.1	Q8NI38	IKBD_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, delta	80					inflammatory response (GO:0006954)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell differentiation in thymus (GO:0033085)|positive regulation of thymocyte apoptotic process (GO:0070245)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	14						tgctcaCGAATGTCAAGACGC	0.637																																																	0													29.0	35.0	33.0					19																	36387648		2055	4209	6264	SO:0001583	missense	0			AF385434	CCDS42552.1	19q13.12	2013-01-10				ENSG00000167604		"""Ankyrin repeat domain containing"""	15671	protein-coding gene	gene with protein product						12477932	Standard	NM_139239		Approved	TA-NFKBH, IkappaBNS	uc002oci.1	Q8NI38		ENST00000396901.1:c.238A>G	19.37:g.36387648T>C	ENSP00000380109:p.Ile80Val		Q8NI39|Q9BRG9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.I232V	ENST00000396901.1	37	c.694	CCDS42552.1	19	.	.	.	.	.	.	.	.	.	.	T	11.13	1.549064	0.27652	.	.	ENSG00000167604	ENST00000352614;ENST00000396901	T;T	0.36878	1.23;1.23	5.13	2.97	0.34412	Ankyrin repeat-containing domain (4);	0.287374	0.36167	N	0.002745	T	0.16685	0.0401	N	0.11106	0.095	0.80722	D	1	B;B	0.11235	0.004;0.0	B;B	0.14578	0.011;0.003	T	0.07927	-1.0747	10	0.16896	T	0.51	.	7.053	0.25083	0.0:0.2073:0.0:0.7927	.	232;80	Q8NI38-2;Q8NI38	.;IKBD_HUMAN	V	232;80	ENSP00000252985:I232V;ENSP00000380109:I80V	ENSP00000252985:I232V	I	-	1	0	NFKBID	41079488	1.000000	0.71417	0.990000	0.47175	0.731000	0.41821	1.625000	0.37029	0.285000	0.22329	0.459000	0.35465	ATT	NFKBID	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom	ENSG00000167604		0.637	NFKBID-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NFKBID	HGNC	protein_coding	OTTHUMT00000452927.3	-	0.00	51	0	T	NM_032721		36387648	-1	tier1	-	no_errors	ENST00000352614	ensembl	human	known	74_37	missense	32.73	37	18	SNP	0.998	C
NPNT	255743	genome.wustl.edu	37	4	106861271	106861271	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:106861271G>T	ENST00000379987.2	+	6	761	c.545G>T	c.(544-546)aGa>aTa	p.R182I	NPNT_ENST00000506666.1_Missense_Mutation_p.R212I|NPNT_ENST00000305572.8_Missense_Mutation_p.R182I|NPNT_ENST00000427316.2_Missense_Mutation_p.R212I|NPNT_ENST00000453617.2_Missense_Mutation_p.R199I|NPNT_ENST00000514622.1_Missense_Mutation_p.R182I	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	182	EGF-like 4; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cellular response to tumor necrosis factor (GO:0071356)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|pilomotor reflex (GO:0097195)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|ureteric bud development (GO:0001657)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integrin alpha8-beta1 complex (GO:0034678)|proteinaceous extracellular matrix (GO:0005578)|smooth muscle contractile fiber (GO:0030485)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TCCTGCCCTAGATTTAGGCAA	0.403																																																	0													174.0	149.0	158.0					4																	106861271		2203	4300	6503	SO:0001583	missense	0				CCDS34046.1, CCDS54784.1, CCDS54785.1, CCDS54786.1, CCDS54787.1	4q25	2005-10-07							27405	protein-coding gene	gene with protein product		610306				15754038	Standard	NM_001033047		Approved	EGFL6L, POEM	uc011cfd.2	Q6UXI9		ENST00000379987.2:c.545G>T	4.37:g.106861271G>T	ENSP00000369323:p.Arg182Ile		A6NFT9|A8K1W4|B4DIT4|B4DYK3|B4E2H7|B4E3H2|D6RCA1|E9PCK8|E9PCQ1|E9PE64|E9PF04	Missense_Mutation	SNP	pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.R182I	ENST00000379987.2	37	c.545	CCDS34046.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.36|13.36	2.214096|2.214096	0.39102|0.39102	.|.	.|.	ENSG00000168743|ENSG00000168743	ENST00000379987;ENST00000453617;ENST00000427316;ENST00000514622;ENST00000305572;ENST00000506666;ENST00000503451|ENST00000514837	D;D;D;D;D;D;D|.	0.92446|.	-3.04;-3.04;-3.04;-3.04;-3.04;-3.04;-3.04|.	5.44|5.44	4.58|4.58	0.56647|0.56647	EGF-like calcium-binding, conserved site (1);Epidermal growth factor-like (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);|.	0.045662|.	0.85682|.	D|.	0.000000|.	T|.	0.49372|.	0.1553|.	N|N	0.17345|0.17345	0.48|0.48	0.37752|0.37752	D|D	0.926021|0.926021	D;D;B;D;B;D;D|.	0.76494|.	0.996;0.971;0.392;0.998;0.392;0.999;0.993|.	D;D;P;D;B;D;D|.	0.75484|.	0.934;0.925;0.47;0.986;0.355;0.984;0.949|.	T|.	0.50996|.	-0.8761|.	10|.	0.22109|.	T|.	0.4|.	.|.	16.0491|16.0491	0.80744|0.80744	0.0:0.1346:0.8654:0.0|0.0:0.1346:0.8654:0.0	.|.	182;212;212;199;229;182;182|.	E9PF04;E9PE64;E9PCQ1;E9PCK8;D6RH31;Q6UXI9-2;Q6UXI9|.	.;.;.;.;.;.;NPNT_HUMAN|.	I|Y	182;199;212;182;182;212;229|158	ENSP00000369323:R182I;ENSP00000402884:R199I;ENSP00000389252:R212I;ENSP00000422044:R182I;ENSP00000302557:R182I;ENSP00000422474:R212I;ENSP00000426146:R229I|.	ENSP00000302557:R182I|.	R|X	+|+	2|3	0|2	NPNT|NPNT	107080720|107080720	0.450000|0.450000	0.25697|0.25697	0.004000|0.004000	0.12327|0.12327	0.008000|0.008000	0.06430|0.06430	2.946000|2.946000	0.49050|0.49050	1.247000|1.247000	0.43917|0.43917	0.655000|0.655000	0.94253|0.94253	AGA|TAG	NPNT	-	pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom	ENSG00000168743		0.403	NPNT-001	KNOWN	basic|CCDS	protein_coding	NPNT	HGNC	protein_coding	OTTHUMT00000364083.1	-	0.00	51	0	G	NM_198278		106861271	+1	tier1	-	no_errors	ENST00000379987	ensembl	human	known	74_37	missense	7.27	51	4	SNP	0.238	T
NR1H2	7376	genome.wustl.edu	37	19	50881825	50881825	+	Silent	SNP	G	G	A	rs55817866	byFrequency	TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:50881825G>A	ENST00000253727.5	+	6	754	c.519G>A	c.(517-519)caG>caA	p.Q173Q	NR1H2_ENST00000599105.1_Silent_p.Q173Q|NR1H2_ENST00000593926.1_Silent_p.Q173Q|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000598168.1_Silent_p.Q173Q|NR1H2_ENST00000411902.2_Silent_p.Q76Q	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	173					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TTCGGAAACAGCAGCAGGAGT	0.637																																																	0													38.0	47.0	44.0					19																	50881825		2140	4249	6389	SO:0001819	synonymous_variant	0			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.519G>A	19.37:g.50881825G>A			A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S131N	ENST00000253727.5	37	c.392	CCDS42593.1	19																																																																																			NR1H2	-	NULL	ENSG00000131408		0.637	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H2	HGNC	protein_coding	OTTHUMT00000464724.2		0.00	21	0	G			50881825	+1			no_errors	ENST00000593532	ensembl	human	known	74_37	missense	17.11	62	13	SNP	1.000	A
NSD1	64324	genome.wustl.edu	37	5	176722172	176722172	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:176722172G>T	ENST00000439151.2	+	23	7848	c.7803G>T	c.(7801-7803)agG>agT	p.R2601S	NSD1_ENST00000354179.4_Missense_Mutation_p.R2332S|NSD1_ENST00000347982.4_Missense_Mutation_p.R2332S|NSD1_ENST00000361032.4_Missense_Mutation_p.R2498S	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2601					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AATCTTTTAGGTCTCTCGGGA	0.597			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													54.0	52.0	53.0					5																	176722172		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.7803G>T	5.37:g.176722172G>T	ENSP00000395929:p.Arg2601Ser		Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.R2601S	ENST00000439151.2	37	c.7803	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	14.42	2.530776	0.45073	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95103	-3.53;-3.54;-3.53;-3.61	4.5	4.5	0.54988	.	0.000000	0.64402	D	0.000014	D	0.94358	0.8186	N	0.24115	0.695	0.36736	D	0.88196	D;D	0.61080	0.989;0.981	D;D	0.75020	0.985;0.966	D	0.95288	0.8392	10	0.39692	T	0.17	.	15.5501	0.76145	0.0:0.0:1.0:0.0	.	2332;2601	Q96L73-2;Q96L73	.;NSD1_HUMAN	S	2332;2601;2332;2498	ENSP00000346111:R2332S;ENSP00000395929:R2601S;ENSP00000343209:R2332S;ENSP00000354310:R2498S	ENSP00000343209:R2332S	R	+	3	2	NSD1	176654778	0.995000	0.38212	1.000000	0.80357	0.460000	0.32559	0.989000	0.29629	2.335000	0.79485	0.462000	0.41574	AGG	NSD1	-	NULL	ENSG00000165671		0.597	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2		0.00	53	0	G	NM_172349		176722172	+1			no_errors	ENST00000439151	ensembl	human	known	74_37	missense	5.80	64	4	SNP	1.000	T
OAT	4942	genome.wustl.edu	37	10	126094158	126094158	+	Intron	SNP	T	T	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:126094158T>G	ENST00000368845.5	-	5	613				OAT_ENST00000539214.1_Intron|OAT_ENST00000467675.1_Intron	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase						cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	AAACAGTGATTATTTCAAAGA	0.428																																																	0													49.0	42.0	44.0					10																	126094158		2203	4300	6503	SO:0001627	intron_variant	0			BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.521-26A>C	10.37:g.126094158T>G			D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	RNA	SNP	-	NULL	ENST00000368845.5	37	NULL	CCDS7639.1	10																																																																																			OAT	-	-	ENSG00000065154		0.428	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAT	HGNC	protein_coding	OTTHUMT00000050863.1	-	0.00	52	0	T	NM_000274		126094158	-1	tier1	-	no_errors	ENST00000483711	ensembl	human	known	74_37	rna	31.25	33	15	SNP	0.074	G
OBSCN	84033	genome.wustl.edu	37	1	228553240	228553240	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:228553240G>A	ENST00000422127.1	+	82	19086	c.19042G>A	c.(19042-19044)Gcc>Acc	p.A6348T	OBSCN_ENST00000570156.2_Missense_Mutation_p.A7305T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A3982T	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6348					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACATACCAGGCCATCGACAC	0.657																																																	0													52.0	65.0	61.0					1																	228553240		2158	4253	6411	SO:0001583	missense	0			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.19042G>A	1.37:g.228553240G>A	ENSP00000409493:p.Ala6348Thr		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain	p.A6348T	ENST00000422127.1	37	c.19042	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.90|11.90	1.777499|1.777499	0.31411|0.31411	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.61980|.	0.06;0.13|.	4.46|4.46	1.42|1.42	0.22433|0.22433	.|.	.|.	.|.	.|.	.|.	T|T	0.36138|0.36138	0.0956|0.0956	N|N	0.24115|0.24115	0.695|0.695	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.12013|.	0.005|.	B|.	0.10450|.	0.005|.	T|T	0.05750|0.05750	-1.0866|-1.0866	9|5	0.08179|.	T|.	0.78|.	.|.	4.4416|4.4416	0.11577|0.11577	0.2977:0.1655:0.5368:0.0|0.2977:0.1655:0.5368:0.0	.|.	6348|.	Q5VST9|.	OBSCN_HUMAN|.	T|D	6348;3982|964	ENSP00000409493:A6348T;ENSP00000355668:A3982T|.	ENSP00000355668:A3982T|.	A|G	+|+	1|2	0|0	OBSCN|OBSCN	226619863|226619863	0.061000|0.061000	0.20836|0.20836	0.315000|0.315000	0.25238|0.25238	0.033000|0.033000	0.12548|0.12548	0.042000|0.042000	0.13949|0.13949	0.091000|0.091000	0.17302|0.17302	0.305000|0.305000	0.20034|0.20034	GCC|GGC	OBSCN	-	NULL	ENSG00000154358		0.657	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		-	0.00	51	0	G	NM_052843		228553240	+1	tier1	-	no_errors	ENST00000422127	ensembl	human	known	74_37	missense	7.41	50	4	SNP	0.835	A
OR52N2	390077	genome.wustl.edu	37	11	5841692	5841692	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:5841692G>T	ENST00000317037.2	+	1	149	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	43						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGTCGTGGGGAACTGTGG	0.547																																																	0													134.0	116.0	122.0					11																	5841692		2201	4296	6497	SO:0001583	missense	0			AB065816	CCDS31399.1	11p15.4	2012-08-09			ENSG00000180988	ENSG00000180988		"""GPCR / Class A : Olfactory receptors"""	15228	protein-coding gene	gene with protein product							Standard	NM_001005174		Approved		uc010qzp.2	Q8NGI0	OTTHUMG00000168801	ENST00000317037.2:c.127G>T	11.37:g.5841692G>T	ENSP00000322801:p.Gly43Trp		Q6IFF9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G43W	ENST00000317037.2	37	c.127	CCDS31399.1	11	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316692	0.40996	.	.	ENSG00000180988	ENST00000317037	T	0.57107	0.42	5.91	5.91	0.95273	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000011	T	0.81370	0.4808	H	0.94264	3.515	0.27241	N	0.959136	D	0.89917	1.0	D	0.91635	0.999	T	0.78481	-0.2187	10	0.87932	D	0	.	18.8574	0.92259	0.0:0.0:1.0:0.0	.	43	Q8NGI0	O52N2_HUMAN	W	43	ENSP00000322801:G43W	ENSP00000322801:G43W	G	+	1	0	OR52N2	5798268	0.886000	0.30341	0.931000	0.37212	0.217000	0.24651	3.699000	0.54778	2.801000	0.96364	0.655000	0.94253	GGG	OR52N2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000180988		0.547	OR52N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52N2	HGNC	protein_coding	OTTHUMT00000401143.1		0.00	29	0	G	NM_001005174		5841692	+1			no_errors	ENST00000317037	ensembl	human	known	74_37	missense	8.33	44	4	SNP	0.799	T
OR5AS1	219447	genome.wustl.edu	37	11	55798389	55798389	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:55798389G>T	ENST00000313555.1	+	1	495	c.495G>T	c.(493-495)agG>agT	p.R165S		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	165						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCACATTCAGGCTGTCATTTT	0.433																																																	0													265.0	249.0	254.0					11																	55798389		2201	4296	6497	SO:0001583	missense	0			AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.495G>T	11.37:g.55798389G>T	ENSP00000324111:p.Arg165Ser		Q6IFB8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R165S	ENST00000313555.1	37	c.495	CCDS31516.1	11	.	.	.	.	.	.	.	.	.	.	G	8.301	0.819821	0.16678	.	.	ENSG00000181785	ENST00000313555	T	0.00034	8.87	5.46	1.03	0.20045	GPCR, rhodopsin-like superfamily (1);	0.193479	0.25277	U	0.031826	T	0.00073	0.0002	L	0.37561	1.115	0.09310	N	1	B	0.30146	0.27	B	0.28916	0.096	T	0.11966	-1.0566	10	0.13470	T	0.59	.	1.2671	0.02013	0.2787:0.1468:0.4237:0.1508	.	165	Q8N127	O5AS1_HUMAN	S	165	ENSP00000324111:R165S	ENSP00000324111:R165S	R	+	3	2	OR5AS1	55554965	0.000000	0.05858	0.085000	0.20634	0.819000	0.46315	-0.734000	0.04893	0.146000	0.19002	0.643000	0.83706	AGG	OR5AS1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181785		0.433	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AS1	HGNC	protein_coding	OTTHUMT00000391538.1		0.00	16	0	G	NM_001001921		55798389	+1			no_errors	ENST00000313555	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.059	T
OR8H2	390151	genome.wustl.edu	37	11	55872693	55872693	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:55872693C>G	ENST00000313503.1	+	1	175	c.175C>G	c.(175-177)Ccc>Gcc	p.P59A		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	59						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					GCTTCACACTCCCATGTATTT	0.413										HNSCC(53;0.14)																																							0													255.0	234.0	241.0					11																	55872693		2201	4293	6494	SO:0001583	missense	0			AB065657	CCDS31518.1	11q11	2012-08-09			ENSG00000181767	ENSG00000181767		"""GPCR / Class A : Olfactory receptors"""	15308	protein-coding gene	gene with protein product							Standard	NM_001005200		Approved		uc010riy.2	Q8N162	OTTHUMG00000166832	ENST00000313503.1:c.175C>G	11.37:g.55872693C>G	ENSP00000323982:p.Pro59Ala		Q6IFC1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P59A	ENST00000313503.1	37	c.175	CCDS31518.1	11	.	.	.	.	.	.	.	.	.	.	c	12.06	1.826086	0.32237	.	.	ENSG00000181767	ENST00000313503	T	0.02015	4.5	3.44	2.51	0.30379	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000070	T	0.08447	0.0210	H	0.94925	3.6	0.41050	D	0.985294	B	0.31859	0.343	B	0.36030	0.216	T	0.01356	-1.1376	10	0.87932	D	0	.	11.5515	0.50723	0.0:0.9076:0.0:0.0924	.	59	Q8N162	OR8H2_HUMAN	A	59	ENSP00000323982:P59A	ENSP00000323982:P59A	P	+	1	0	OR8H2	55629269	0.967000	0.33354	0.969000	0.41365	0.393000	0.30537	2.707000	0.47143	0.739000	0.32628	0.281000	0.19383	CCC	OR8H2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181767		0.413	OR8H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H2	HGNC	protein_coding	OTTHUMT00000391540.1	-	0.00	88	0	C	NM_001005200		55872693	+1	tier1	-	no_errors	ENST00000313503	ensembl	human	known	74_37	missense	38.26	92	57	SNP	1.000	G
PAPOLA	10914	genome.wustl.edu	37	14	96998989	96998989	+	Intron	SNP	A	A	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:96998989A>T	ENST00000216277.8	+	9	1056				PAPOLA_ENST00000557320.1_Missense_Mutation_p.Y280F|PAPOLA_ENST00000392990.2_Intron	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|RNA polyadenylation (GO:0043631)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCTAAATGGTATGTGTTTAGA	0.303																																					NSCLC(19;254 734 11908 35501 39234)												0													53.0	55.0	54.0					14																	96998989		2203	4299	6502	SO:0001627	intron_variant	0			X76770	CCDS9946.1, CCDS58334.1, CCDS58335.1	14q32.1-q32.2	2008-02-08				ENSG00000090060	2.7.7.19		14981	protein-coding gene	gene with protein product		605553				8302877, 10429366	Standard	NM_032632		Approved	PAP	uc001yfq.3	P51003		ENST00000216277.8:c.836+3A>T	14.37:g.96998989A>T			Q86SX4|Q86TV0|Q8IYF5|Q9BVU2	Missense_Mutation	SNP	pfam_PolA_pol_cen_dom,pfam_Nucleotidyltransferase	p.Y280F	ENST00000216277.8	37	c.839	CCDS9946.1	14	.	.	.	.	.	.	.	.	.	.	A	14.95	2.689586	0.48097	.	.	ENSG00000090060	ENST00000557320	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	T	0.52354	0.1729	.	.	.	0.80722	D	1	P	0.37398	0.593	B	0.39217	0.294	T	0.50474	-0.8824	6	.	.	.	.	15.5333	0.75980	1.0:0.0:0.0:0.0	.	280	P51003-2	.	F	280	.	.	Y	+	2	0	PAPOLA	96068742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.821000	0.55700	2.147000	0.66899	0.528000	0.53228	TAT	PAPOLA	-	NULL	ENSG00000090060		0.303	PAPOLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLA	HGNC	protein_coding	OTTHUMT00000413411.2	-	0.00	37	0	A			96998989	+1	tier1	-	no_errors	ENST00000557320	ensembl	human	known	74_37	missense	43.06	41	31	SNP	1.000	T
PCDH1	5097	genome.wustl.edu	37	5	141248589	141248589	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:141248589delG	ENST00000394536.3	-	2	587	c.448delC	c.(448-450)cggfs	p.R150fs	PCDH1_ENST00000536585.1_Frame_Shift_Del_p.R128fs|PCDH1_ENST00000456271.1_Frame_Shift_Del_p.R150fs|PCDH1_ENST00000503492.1_Frame_Shift_Del_p.R150fs|PCDH1_ENST00000287008.3_Frame_Shift_Del_p.R150fs|PCDH1_ENST00000511044.1_5'Flank	NM_001278613.1|NM_001278615.1	NP_001265542.1|NP_001265544.1	Q08174	PCDH1_HUMAN	protocadherin 1	150	Cadherin 1. {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)		TCTAGCAGCCGGGGGCTGCCA	0.552																																					Ovarian(132;1609 1739 4190 14731 45037)												0													173.0	173.0	173.0					5																	141248589		2203	4300	6503	SO:0001589	frameshift_variant	0			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.448delC	5.37:g.141248589delG	ENSP00000378043:p.Arg150fs		Q8IUP2	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R150fs	ENST00000394536.3	37	c.448	CCDS43375.1	5																																																																																			PCDH1	-	superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000156453		0.552	PCDH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PCDH1	HGNC	protein_coding	OTTHUMT00000251862.1		0.00	20	0	G	NM_032420		141248589	-1	tier1		no_errors	ENST00000287008	ensembl	human	known	74_37	frame_shift_del	8.33	22	2	DEL	1.000	-
PCDHA13	56136	genome.wustl.edu	37	5	140262071	140262071	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:140262071A>G	ENST00000289272.2	+	1	218	c.218A>G	c.(217-219)gAc>gGc	p.D73G	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.D73G|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	73	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)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACACGGGGACCTTCTGGAG	0.622																																					Melanoma(147;1739 1852 5500 27947 37288)												0													66.0	77.0	73.0					5																	140262071		2202	4293	6495	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.218A>G	5.37:g.140262071A>G	ENSP00000289272:p.Asp73Gly		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D73G	ENST00000289272.2	37	c.218	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	A	11.09	1.536008	0.27475	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.27557	1.66;1.66	5.54	5.54	0.83059	Cadherin, N-terminal (1);Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.47377	0.1442	M	0.79926	2.475	0.19300	N	0.999976	B;B;B	0.21452	0.017;0.039;0.056	B;B;B	0.37198	0.085;0.243;0.114	T	0.47497	-0.9113	9	0.59425	D	0.04	.	15.3906	0.74741	1.0:0.0:0.0:0.0	.	73;73;73	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	G	73	ENSP00000386821:D73G;ENSP00000289272:D73G	ENSP00000289272:D73G	D	+	2	0	PCDHA13	140242255	0.000000	0.05858	0.995000	0.50966	0.616000	0.37450	0.345000	0.19979	2.114000	0.64651	0.454000	0.30748	GAC	PCDHA13	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000239389		0.622	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0.00	89	0	A	NM_018904		140262071	+1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	26.51	121	44	SNP	0.438	G
PCDHA13	56136	genome.wustl.edu	37	5	140263363	140263363	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:140263363C>G	ENST00000289272.2	+	1	1510	c.1510C>G	c.(1510-1512)Ctg>Gtg	p.L504V	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.L504V|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	504	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCGTGCGCTGTCGAGCTA	0.672																																					Melanoma(147;1739 1852 5500 27947 37288)												0													63.0	63.0	63.0					5																	140263363		2203	4299	6502	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1510C>G	5.37:g.140263363C>G	ENSP00000289272:p.Leu504Val		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.L504V	ENST00000289272.2	37	c.1510	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	C	8.166	0.790519	0.16258	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.50813	0.73;0.78	4.62	2.78	0.32641	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.42585	0.1209	N	0.20445	0.575	0.23435	N	0.997685	P;P;P	0.51449	0.945;0.945;0.675	P;P;B	0.59424	0.857;0.563;0.307	T	0.17531	-1.0366	9	0.23302	T	0.38	.	4.6127	0.12411	0.1554:0.6087:0.1507:0.0852	.	504;504;504	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	V	504	ENSP00000386821:L504V;ENSP00000289272:L504V	ENSP00000289272:L504V	L	+	1	2	PCDHA13	140243547	0.000000	0.05858	0.918000	0.36340	0.806000	0.45545	-0.799000	0.04560	0.522000	0.28464	0.556000	0.70494	CTG	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000239389		0.672	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0.00	88	0	C	NM_018904		140263363	+1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	21.94	120	34	SNP	0.982	G
PCDHA13	56136	genome.wustl.edu	37	5	140263450	140263450	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:140263450T>G	ENST00000289272.2	+	1	1597	c.1597T>G	c.(1597-1599)Ttc>Gtc	p.F533V	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.F533V|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	533	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGTTGCAGTTCCAGGTGAG	0.677																																					Melanoma(147;1739 1852 5500 27947 37288)												0													76.0	82.0	80.0					5																	140263450		2203	4299	6502	SO:0001583	missense	0			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1597T>G	5.37:g.140263450T>G	ENSP00000289272:p.Phe533Val		O75277	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.F533V	ENST00000289272.2	37	c.1597	CCDS4240.1	5	.	.	.	.	.	.	.	.	.	.	T	12.84	2.059965	0.36373	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.48836	0.8;0.8	4.54	3.33	0.38152	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.54775	0.1879	L	0.46157	1.445	0.24179	N	0.995594	P;P;B	0.39443	0.674;0.674;0.279	P;B;B	0.53861	0.736;0.411;0.258	T	0.44251	-0.9340	9	0.34782	T	0.22	.	10.5797	0.45248	0.0:0.0:0.3061:0.6939	.	533;533;533	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	V	533	ENSP00000386821:F533V;ENSP00000289272:F533V	ENSP00000289272:F533V	F	+	1	0	PCDHA13	140243634	0.925000	0.31364	0.992000	0.48379	0.967000	0.64934	0.546000	0.23284	0.714000	0.32081	0.459000	0.35465	TTC	PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	ENSG00000239389		0.677	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	-	0.00	108	0	T	NM_018904		140263450	+1	tier1	-	no_errors	ENST00000289272	ensembl	human	known	74_37	missense	21.43	176	48	SNP	0.997	G
PDGFB	5155	genome.wustl.edu	37	22	39621804	39621806	+	In_Frame_Del	DEL	CGG	CGG	-			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	CGG	CGG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr22:39621804_39621806delCGG	ENST00000331163.6	-	6	1435_1437	c.648_650delCCG	c.(646-651)cgccgg>cgg	p.216_217RR>R	PDGFB_ENST00000381551.4_In_Frame_Del_p.201_202RR>R	NM_002608.2	NP_002599.1	P01127	PDGFB_HUMAN	platelet-derived growth factor beta polypeptide	216					actin cytoskeleton organization (GO:0030036)|activation of protein kinase activity (GO:0032147)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|branching involved in salivary gland morphogenesis (GO:0060445)|cell chemotaxis (GO:0060326)|cell growth (GO:0016049)|cell projection assembly (GO:0030031)|cellular response to growth factor stimulus (GO:0071363)|cellular response to mycophenolic acid (GO:0071506)|DNA replication (GO:0006260)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|metanephric glomerular endothelium development (GO:0072264)|metanephric glomerular mesangial cell development (GO:0072255)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|monocyte chemotaxis (GO:0002548)|negative regulation of cell migration (GO:0030336)|negative regulation of phosphatidylinositol biosynthetic process (GO:0010512)|negative regulation of platelet activation (GO:0010544)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|paracrine signaling (GO:0038001)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of glomerular filtration (GO:0003104)|positive regulation of glomerular mesangial cell proliferation (GO:0072126)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of metanephric mesenchymal cell migration (GO:2000591)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|response to wounding (GO:0009611)|substrate-dependent cell migration (GO:0006929)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|collagen binding (GO:0005518)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|superoxide-generating NADPH oxidase activator activity (GO:0016176)		COL1A1/PDGFB(429)	central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Melanoma(58;0.04)					CTTGGGGGGCCGGCGGACTCGCA	0.591			T	COL1A1	DFSP																																			Dom	yes		22	22q12.3-q13.1	5155	platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)		M	0																																										SO:0001651	inframe_deletion	0				CCDS13987.1, CCDS33650.1	22q13.1	2012-10-02	2011-05-19		ENSG00000100311	ENSG00000100311			8800	protein-coding gene	gene with protein product	"""oncogene SIS"", ""becaplermin"""	190040	"""platelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)"""	SIS		2991848, 1661670	Standard	NM_002608		Approved	SSV	uc003axf.3	P01127	OTTHUMG00000151029	ENST00000331163.6:c.648_650delCCG	22.37:g.39621807_39621809delCGG	ENSP00000330382:p.Arg217del		G3XAG8|P78431|Q15354|Q6FHE7|Q9UF23	In_Frame_Del	DEL	pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom	p.R217in_frame_del	ENST00000331163.6	37	c.650_648	CCDS13987.1	22																																																																																			PDGFB	-	NULL	ENSG00000100311		0.591	PDGFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFB	HGNC	protein_coding	OTTHUMT00000321043.1		0.00	51	0	CGG	NM_002608		39621806	-1	tier1		no_errors	ENST00000331163	ensembl	human	known	74_37	in_frame_del	15.91	37	7	DEL	1.000:1.000:1.000	-
PDLIM2	64236	genome.wustl.edu	37	8	22439044	22439044	+	Splice_Site	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr8:22439044G>T	ENST00000397760.4	+	3	645		c.e3+1		PDLIM2_ENST00000265810.4_Splice_Site|PDLIM2_ENST00000409417.1_Splice_Site|PDLIM2_ENST00000409141.1_Splice_Site|PDLIM2_ENST00000308354.7_Splice_Site|PDLIM2_ENST00000397761.2_Splice_Site|PDLIM2_ENST00000339162.7_Splice_Site			Q96JY6	PDLI2_HUMAN	PDZ and LIM domain 2 (mystique)							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00579)|Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0626)		AGCTGGACCGGTAGGGCCTCC	0.677																																																	0													40.0	38.0	39.0					8																	22439044		2203	4298	6501	SO:0001630	splice_region_variant	0			AY007729	CCDS34860.1, CCDS6032.1, CCDS34861.1, CCDS6032.2	8p21.3	2012-06-27			ENSG00000120913	ENSG00000120913			13992	protein-coding gene	gene with protein product		609722					Standard	NM_021630		Approved		uc003xby.4	Q96JY6	OTTHUMG00000164270	ENST00000397760.4:c.245+1G>T	8.37:g.22439044G>T			D3DSR5|J3KNH4|Q7Z584|Q86WM8|Q8WZ29|Q9H4L9|Q9H7I2	Splice_Site	SNP	-	e3+1	ENST00000397760.4	37	c.995+1		8	.	.	.	.	.	.	.	.	.	.	G	16.84	3.233988	0.58886	.	.	ENSG00000120913	ENST00000456545;ENST00000308354;ENST00000452226;ENST00000397760;ENST00000339162;ENST00000381194;ENST00000397761;ENST00000436754;ENST00000426493;ENST00000429812;ENST00000409141;ENST00000265810;ENST00000409417	.	.	.	4.45	4.45	0.53987	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3541	0.66724	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PDLIM2	22494989	1.000000	0.71417	1.000000	0.80357	0.770000	0.43624	5.173000	0.65010	2.174000	0.68829	0.561000	0.74099	.	PDLIM2	-	-	ENSG00000120913		0.677	PDLIM2-202	KNOWN	basic|appris_principal	protein_coding	PDLIM2	HGNC	protein_coding	OTTHUMT00000334167.1	-	0.00	45	0	G		Intron	22439044	+1	tier1	-	no_errors	ENST00000308354	ensembl	human	known	74_37	splice_site	10.81	33	4	SNP	1.000	T
PDZD9	255762	genome.wustl.edu	37	16	22007662	22007662	+	Silent	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr16:22007662G>A	ENST00000424898.2	-	2	254	c.192C>T	c.(190-192)aaC>aaT	p.N64N	PDZD9_ENST00000537222.2_Intron|PDZD9_ENST00000286143.6_De_novo_Start_OutOfFrame			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	64	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.									breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						GTTTCCCGTCGTTGGCTGCAG	0.592																																																	0																																										SO:0001819	synonymous_variant	0			BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 65"""	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.192C>T	16.37:g.22007662G>A			F5GWW8	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.N64	ENST00000424898.2	37	c.192		16																																																																																			PDZD9	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	ENSG00000155714		0.592	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PDZD9	HGNC	protein_coding	OTTHUMT00000381652.1	-	0.00	62	0	G	NM_173806		22007662	-1	tier1	-	no_errors	ENST00000424898	ensembl	human	known	74_37	silent	16.80	104	21	SNP	0.569	A
PLS1	5357	genome.wustl.edu	37	3	142388241	142388241	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:142388241A>G	ENST00000337777.3	+	3	293	c.80A>G	c.(79-81)aAt>aGt	p.N27S	PLS1_ENST00000457734.2_Missense_Mutation_p.N27S|PLS1_ENST00000497002.1_Missense_Mutation_p.N27S	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	27	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GATATTGACAATAGTGGGTAT	0.378																																																	0													63.0	63.0	63.0					3																	142388241		2203	4300	6503	SO:0001583	missense	0			L20826	CCDS3125.1	3q23	2013-01-10	2010-02-10		ENSG00000120756	ENSG00000120756		"""EF-hand domain containing"""	9090	protein-coding gene	gene with protein product		602734	"""plastin 1 (I isoform)"""			8139549	Standard	NM_002670		Approved	I-plastin, Plastin-1	uc003euz.3	Q14651	OTTHUMG00000159292	ENST00000337777.3:c.80A>G	3.37:g.142388241A>G	ENSP00000336831:p.Asn27Ser		A8K2Q1|D3DNG3|Q8NEG6	Missense_Mutation	SNP	pfam_CH-domain,pfam_EF_hand_dom,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom	p.N27S	ENST00000337777.3	37	c.80	CCDS3125.1	3	.	.	.	.	.	.	.	.	.	.	A	13.16	2.155355	0.38021	.	.	ENSG00000120756	ENST00000457734;ENST00000483373;ENST00000475296;ENST00000495744;ENST00000461644;ENST00000464320;ENST00000337777;ENST00000497199;ENST00000497002	T;T;T;T;T;T;T;T;T	0.72505	-0.66;2.92;-0.66;-0.14;-0.14;-0.66;-0.66;-0.14;-0.66	5.48	4.33	0.51752	EF-hand-like domain (1);	0.168998	0.64402	D	0.000006	T	0.54806	0.1881	L	0.28344	0.845	0.51482	D	0.999926	B	0.09022	0.002	B	0.10450	0.005	T	0.45026	-0.9289	10	0.16896	T	0.51	-12.6808	11.2953	0.49274	0.9284:0.0:0.0716:0.0	.	27	Q14651	PLSI_HUMAN	S	27	ENSP00000387890:N27S;ENSP00000419893:N27S;ENSP00000417311:N27S;ENSP00000419531:N27S;ENSP00000419271:N27S;ENSP00000418880:N27S;ENSP00000336831:N27S;ENSP00000417491:N27S;ENSP00000418700:N27S	ENSP00000336831:N27S	N	+	2	0	PLS1	143870931	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	3.780000	0.55386	1.017000	0.39495	0.477000	0.44152	AAT	PLS1	-	smart_EF_hand_dom,pfscan_EF_hand_dom	ENSG00000120756		0.378	PLS1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLS1	HGNC	protein_coding	OTTHUMT00000354435.1	-	0.00	41	0	A	NM_002670		142388241	+1	tier1	-	no_errors	ENST00000337777	ensembl	human	known	74_37	missense	16.25	67	13	SNP	1.000	G
PNPLA8	50640	genome.wustl.edu	37	7	108119807	108119807	+	Missense_Mutation	SNP	A	A	C	rs144990439		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:108119807A>C	ENST00000422087.1	-	11	2301	c.1895T>G	c.(1894-1896)cTg>cGg	p.L632R	PNPLA8_ENST00000453144.1_Missense_Mutation_p.L532R|PNPLA8_ENST00000426128.2_Missense_Mutation_p.L570R|PNPLA8_ENST00000388728.5_Missense_Mutation_p.L570R|PNPLA8_ENST00000436062.1_Missense_Mutation_p.L632R|PNPLA8_ENST00000257694.8_Missense_Mutation_p.L632R	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	632	Patatin.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						AGGGTTATTCAGAAGCAAACC	0.388																																																	0								A	ARG/LEU	0,4406		0,0,2203	109.0	92.0	98.0		1895	5.8	1.0	7	dbSNP_134	98	1,8599	1.2+/-3.3	0,1,4299	no	missense	PNPLA8	NM_015723.2	102	0,1,6502	CC,CA,AA		0.0116,0.0,0.0077	possibly-damaging	632/783	108119807	1,13005	2203	4300	6503	SO:0001583	missense	0			AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1895T>G	7.37:g.108119807A>C	ENSP00000410804:p.Leu632Arg		A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold	p.L632R	ENST00000422087.1	37	c.1895	CCDS34733.1	7	.	.	.	.	.	.	.	.	.	.	A	25.1	4.607840	0.87258	0.0	1.16E-4	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T	0.78924	-1.22;-1.07;-1.22;-1.22;-1.22;-1.22	5.78	5.78	0.91487	Acyl transferase/acyl hydrolase/lysophospholipase (1);Patatin/Phospholipase A2-related (1);	0.138689	0.49305	D	0.000159	D	0.82815	0.5119	L	0.37630	1.12	0.34986	D	0.754546	D	0.76494	0.999	D	0.77004	0.989	D	0.86226	0.1634	10	0.39692	T	0.17	.	16.109	0.81247	1.0:0.0:0.0:0.0	.	632	Q9NP80	PLPL8_HUMAN	R	567;632;570;632;532;632;532	ENSP00000257694:L632R;ENSP00000373380:L570R;ENSP00000410804:L632R;ENSP00000387789:L532R;ENSP00000406779:L632R;ENSP00000402274:L532R	ENSP00000257694:L632R	L	-	2	0	PNPLA8	107907043	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.248000	0.95456	2.198000	0.70561	0.533000	0.62120	CTG	PNPLA8	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase	ENSG00000135241		0.388	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PNPLA8	HGNC	protein_coding	OTTHUMT00000337475.1	-	0.00	37	0	A	NM_015723		108119807	-1	tier1	rs144990439	no_errors	ENST00000257694	ensembl	human	known	74_37	missense	58.90	29	43	SNP	1.000	C
PPME1	51400	genome.wustl.edu	37	11	73957080	73957080	+	Intron	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:73957080G>A	ENST00000328257.8	+	10	1157				PPME1_ENST00000398427.4_Splice_Site_p.G279E|PPME1_ENST00000543525.1_Intron|P4HA3_ENST00000540363.1_Intron			Q9Y570	PPME1_HUMAN	protein phosphatase methylesterase 1						negative regulation of catalytic activity (GO:0043086)|protein demethylation (GO:0006482)|regulation of catalytic activity (GO:0050790)		protein C-terminal methylesterase activity (GO:0051722)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TTCCTCCAGGGGTTGCCCTCG	0.423																																																	0													24.0	22.0	23.0					11																	73957080		1827	4071	5898	SO:0001627	intron_variant	0				CCDS44678.1, CCDS60891.1	11q13.4	2014-03-14			ENSG00000214517	ENSG00000214517	3.1.1.89		30178	protein-coding gene	gene with protein product		611117				10318862	Standard	NM_016147		Approved	PME-1	uc009yty.4	Q9Y570	OTTHUMG00000168115	ENST00000328257.8:c.835-41G>A	11.37:g.73957080G>A			B3KMU6|B5MEE7|J3QT22|Q8WYG8|Q9NVT5|Q9UI18	Missense_Mutation	SNP	pirsf_PPase_methylesterase_euk	p.G279E	ENST00000328257.8	37	c.836	CCDS44678.1	11	.	.	.	.	.	.	.	.	.	.	G	0.007	-2.007457	0.00426	.	.	ENSG00000214517	ENST00000398427	T	0.63913	-0.07	5.11	3.18	0.36537	.	.	.	.	.	T	0.32763	0.0840	.	.	.	0.19300	N	0.999971	.	.	.	.	.	.	T	0.21008	-1.0258	6	0.02654	T	1	.	8.507	0.33193	0.0853:0.155:0.7597:0.0	.	.	.	.	E	279	ENSP00000381461:G279E	ENSP00000381461:G279E	G	+	2	0	PPME1	73634728	0.105000	0.21958	0.009000	0.14445	0.003000	0.03518	1.351000	0.34022	0.771000	0.33359	0.585000	0.79938	GGG	PPME1	-	pirsf_PPase_methylesterase_euk	ENSG00000214517		0.423	PPME1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	PPME1	HGNC	protein_coding	OTTHUMT00000398254.1	-	0.00	64	0	G	NM_016147		73957080	+1	tier1	-	no_errors	ENST00000398427	ensembl	human	novel	74_37	missense	6.35	59	4	SNP	0.016	A
PPP1R16B	26051	genome.wustl.edu	37	20	37518295	37518295	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr20:37518295C>A	ENST00000299824.1	+	3	497	c.308C>A	c.(307-309)aCa>aAa	p.T103K	PPP1R16B_ENST00000468265.1_3'UTR|PPP1R16B_ENST00000373331.2_Missense_Mutation_p.T103K	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	103					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GACGGACTCACAGCCCTACAC	0.577																																																	0													170.0	159.0	163.0					20																	37518295		2203	4300	6503	SO:0001583	missense	0			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.308C>A	20.37:g.37518295C>A	ENSP00000299824:p.Thr103Lys		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T103K	ENST00000299824.1	37	c.308	CCDS13309.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.6|28.6	4.936865|4.936865	0.92458|0.92458	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000438192|ENST00000299824;ENST00000373331	.|T;T	.|0.63255	.|-0.03;-0.03	4.9|4.9	4.9|4.9	0.64082|0.64082	.|Ankyrin repeat-containing domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83792|0.83792	0.5331|0.5331	M|M	0.91510|0.91510	3.215|3.215	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.999;1.0	D|D	0.87710|0.87710	0.2566|0.2566	5|10	.|0.87932	.|D	.|0	.|.	18.2755|18.2755	0.90081|0.90081	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|103;103	.|E9PFS8;Q96T49	.|.;PP16B_HUMAN	K|K	46|103	.|ENSP00000299824:T103K;ENSP00000362428:T103K	.|ENSP00000299824:T103K	Q|T	+|+	1|2	0|0	PPP1R16B|PPP1R16B	36951709|36951709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.954000|6.954000	0.76001|0.76001	2.550000|2.550000	0.86006|0.86006	0.655000|0.655000	0.94253|0.94253	CAG|ACA	PPP1R16B	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000101445		0.577	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16B	HGNC	protein_coding	OTTHUMT00000079220.2	-	0.00	53	0	C	NM_015568		37518295	+1	tier1	-	no_errors	ENST00000299824	ensembl	human	known	74_37	missense	5.41	70	4	SNP	1.000	A
PPRC1	23082	genome.wustl.edu	37	10	103901420	103901420	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:103901420C>T	ENST00000278070.2	+	5	3194	c.3155C>T	c.(3154-3156)cCt>cTt	p.P1052L	PPRC1_ENST00000370012.1_Missense_Mutation_p.P19L|PPRC1_ENST00000413464.2_Missense_Mutation_p.P1052L	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1052	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CAGACAGAGCCTACCAAGGTG	0.582																																																	0													86.0	67.0	74.0					10																	103901420		2203	4300	6503	SO:0001583	missense	0			AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.3155C>T	10.37:g.103901420C>T	ENSP00000278070:p.Pro1052Leu		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P1052L	ENST00000278070.2	37	c.3155	CCDS7529.1	10	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750962	0.49257	.	.	ENSG00000148840	ENST00000278070;ENST00000413464;ENST00000370012	T;T;T	0.34667	1.71;1.64;1.35	5.79	1.84	0.25277	.	1.672230	0.02988	N	0.146535	T	0.28333	0.0700	L	0.32530	0.975	0.09310	N	1	B;B;B	0.12013	0.003;0.005;0.0	B;B;B	0.09377	0.002;0.004;0.002	T	0.14643	-1.0465	10	0.35671	T	0.21	.	4.5009	0.11863	0.263:0.519:0.0:0.2179	.	1052;932;1052	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	L	1052;1052;19	ENSP00000278070:P1052L;ENSP00000399743:P1052L;ENSP00000359029:P19L	ENSP00000278070:P1052L	P	+	2	0	PPRC1	103891410	0.000000	0.05858	0.379000	0.26080	0.830000	0.47004	0.497000	0.22514	0.367000	0.24454	0.462000	0.41574	CCT	PPRC1	-	NULL	ENSG00000148840		0.582	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPRC1	HGNC	protein_coding	OTTHUMT00000050021.1	-	0.00	57	0	C	NM_015062		103901420	+1	tier1	-	no_errors	ENST00000278070	ensembl	human	known	74_37	missense	18.18	36	8	SNP	0.002	T
PRKCSH	5589	genome.wustl.edu	37	19	11547294	11547294	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:11547294A>G	ENST00000589838.1	+	2	164	c.164A>G	c.(163-165)tAt>tGt	p.Y55C	PRKCSH_ENST00000591462.1_Missense_Mutation_p.Y55C|PRKCSH_ENST00000587327.1_Missense_Mutation_p.Y55C|CCDC151_ENST00000591179.1_5'Flank|snoU13_ENST00000459022.1_RNA|PRKCSH_ENST00000252455.2_Missense_Mutation_p.Y55C|CCDC151_ENST00000356392.4_5'Flank|PRKCSH_ENST00000412601.1_Missense_Mutation_p.Y55C|CCDC151_ENST00000545100.1_5'Flank|PRKCSH_ENST00000592741.1_Missense_Mutation_p.Y55C|CCDC151_ENST00000586836.1_5'Flank			P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	55					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|N-glycan processing (GO:0006491)|negative regulation of neuron projection development (GO:0010977)|nitrogen compound metabolic process (GO:0006807)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein N-linked glycosylation via asparagine (GO:0018279)|renal system development (GO:0072001)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular (GO:0005622)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|phosphoprotein binding (GO:0051219)|protein kinase C binding (GO:0005080)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						AACGATGACTATTGCGACTGC	0.517																																																	0													99.0	73.0	82.0					19																	11547294		2203	4300	6503	SO:0001583	missense	0				CCDS32911.1, CCDS45977.1, CCDS74286.1	19p13.2	2014-01-30			ENSG00000130175	ENSG00000130175	2.7.11.1	"""EF-hand domain containing"""	9411	protein-coding gene	gene with protein product		177060	"""polycystic liver disease"""	G19P1, PCLD, PLD1		12529853	Standard	NM_002743		Approved		uc002mrt.3	P14314	OTTHUMG00000182029	ENST00000589838.1:c.164A>G	19.37:g.11547294A>G	ENSP00000465461:p.Tyr55Cys		A8K318|Q96BU9|Q96D06|Q9P0W9	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_LDrepeatLR_classA_rpt,pfscan_EF_hand_dom	p.Y55C	ENST00000589838.1	37	c.164	CCDS32911.1	19	.	.	.	.	.	.	.	.	.	.	A	14.40	2.523186	0.44866	.	.	ENSG00000130175	ENST00000252455;ENST00000412601	T;T	0.78924	-1.22;-1.22	4.51	3.47	0.39725	.	0.000000	0.85682	D	0.000000	D	0.89822	0.6826	H	0.94698	3.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89543	0.3794	10	0.87932	D	0	-18.8237	9.4433	0.38681	0.8406:0.0:0.0:0.1594	.	55;55;55	E7EQZ9;A8K318;P14314	.;.;GLU2B_HUMAN	C	55	ENSP00000252455:Y55C;ENSP00000395616:Y55C	ENSP00000252455:Y55C	Y	+	2	0	PRKCSH	11408294	1.000000	0.71417	1.000000	0.80357	0.081000	0.17604	8.381000	0.90152	0.574000	0.29417	-0.496000	0.04628	TAT	PRKCSH	-	superfamily_LDrepeatLR_classA_rpt	ENSG00000130175		0.517	PRKCSH-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKCSH	HGNC	protein_coding	OTTHUMT00000458817.1	-	0.00	32	0	A			11547294	+1	tier1	-	no_errors	ENST00000252455	ensembl	human	known	74_37	missense	29.51	43	18	SNP	1.000	G
PSIP1	11168	genome.wustl.edu	37	9	15472612	15472612	+	Intron	DEL	A	A	-	rs201263257		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:15472612delA	ENST00000380733.4	-	10	1321				PSIP1_ENST00000380738.4_Intron|PSIP1_ENST00000397519.2_Intron|PSIP1_ENST00000380716.4_Intron|PSIP1_ENST00000380715.1_Intron			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1						establishment of integrated proviral latency (GO:0075713)|mRNA 5'-splice site recognition (GO:0000395)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to heat (GO:0009408)|response to oxidative stress (GO:0006979)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nuclear periphery (GO:0034399)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription coactivator activity (GO:0001105)|supercoiled DNA binding (GO:0097100)			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CAAAATTTAGAAAAAAAAAAA	0.343																																																	0													81.0	78.0	79.0					9																	15472612		2202	4297	6499	SO:0001627	intron_variant	0			AF098482	CCDS6479.1, CCDS6480.1	9p22.2	2008-02-05	2004-02-24		ENSG00000164985	ENSG00000164985			9527	protein-coding gene	gene with protein product		603620	"""PC4 and SFRS1 interacting protein 2"""	PSIP2		9822615, 9885563	Standard	NM_033222		Approved	p52, LEDGF, p75	uc003zlw.4	O75475	OTTHUMG00000021021	ENST00000380733.4:c.977+17T>-	9.37:g.15472612delA			D3DRI9|O00256|O95368|Q6P391|Q86YB9|Q9NZI3|Q9UER6	RNA	DEL	-	NULL	ENST00000380733.4	37	NULL	CCDS6479.1	9																																																																																			PSIP1	-	-	ENSG00000164985		0.343	PSIP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PSIP1	HGNC	protein_coding	OTTHUMT00000055445.1		0.00	36	0	A	NM_033222		15472612	-1	tier1		no_errors	ENST00000495873	ensembl	human	known	74_37	rna	10.64	42	5	DEL	0.001	-
PTPRM	5797	genome.wustl.edu	37	18	7955118	7955118	+	Splice_Site	SNP	G	G	C			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr18:7955118G>C	ENST00000332175.8	+	7	1875		c.e7-1		PTPRM_ENST00000580170.1_Splice_Site|PTPRM_ENST00000400060.4_Splice_Site|PTPRM_ENST00000400053.4_Splice_Site|PTPRM_ENST00000444013.1_Splice_Site	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M						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)				TTGTCTTTCAGAACCACCCGT	0.438																																																	0													63.0	62.0	62.0					18																	7955118		2203	4300	6503	SO:0001630	splice_region_variant	0			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.839-1G>C	18.37:g.7955118G>C			A7MBN1|D3DUH8|J3QL11	Splice_Site	SNP	-	e7-1	ENST00000332175.8	37	c.839-1	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	25.7	4.661932	0.88251	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTPRM	7945118	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	9.869000	0.99810	2.865000	0.98341	0.655000	0.94253	.	PTPRM	-	-	ENSG00000173482		0.438	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	-	0.00	15	0	G		Intron	7955118	+1	tier1	-	no_errors	ENST00000400060	ensembl	human	known	74_37	splice_site	52.94	8	9	SNP	1.000	C
PTPRO	5800	genome.wustl.edu	37	12	15654736	15654736	+	Missense_Mutation	SNP	G	G	A	rs559417288		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:15654736G>A	ENST00000281171.4	+	5	1174	c.844G>A	c.(844-846)Ggt>Agt	p.G282S	PTPRO_ENST00000543886.1_Missense_Mutation_p.G282S|PTPRO_ENST00000348962.2_Missense_Mutation_p.G282S	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	282	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CATTTCTTCCGGTTGGCCTGA	0.413													G|||	1	0.000199681	0.0	0.0	5008	,	,		18663	0.0		0.0	False		,,,				2504	0.001																0													66.0	64.0	65.0					12																	15654736		2203	4300	6503	SO:0001583	missense	0			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.844G>A	12.37:g.15654736G>A	ENSP00000281171:p.Gly282Ser		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.G282S	ENST00000281171.4	37	c.844	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247921	0.39697	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.03772	3.81;3.82	4.49	3.57	0.40892	.	0.164332	0.28442	N	0.015331	T	0.02807	0.0084	N	0.14661	0.345	0.80722	D	1	B;B;P	0.34587	0.335;0.226;0.458	B;B;B	0.25614	0.062;0.017;0.041	T	0.55412	-0.8145	10	0.56958	D	0.05	.	8.9161	0.35583	0.082:0.1518:0.7662:0.0	.	282;282;282	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	S	282	ENSP00000281171:G282S;ENSP00000343434:G282S	ENSP00000281171:G282S	G	+	1	0	PTPRO	15546003	0.987000	0.35691	0.990000	0.47175	0.698000	0.40448	2.441000	0.44864	1.057000	0.40506	0.650000	0.86243	GGT	PTPRO	-	NULL	ENSG00000151490		0.413	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1	-	0.00	93	0	G			15654736	+1	tier1	-	no_errors	ENST00000281171	ensembl	human	known	74_37	missense	38.18	102	63	SNP	0.981	A
PVRL1	5818	genome.wustl.edu	37	11	119549353	119549353	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:119549353G>A	ENST00000264025.3	-	2	732	c.202C>T	c.(202-204)Cag>Tag	p.Q68*	PVRL1_ENST00000340882.2_Nonsense_Mutation_p.Q68*|PVRL1_ENST00000341398.2_Nonsense_Mutation_p.Q68*|PVRL1_ENST00000524510.1_5'UTR	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	68	Ig-like V-type.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTGGACTTCTGCCATGTGACC	0.587																																																	0													90.0	74.0	79.0					11																	119549353		2199	4295	6494	SO:0001587	stop_gained	0			X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.202C>T	11.37:g.119549353G>A	ENSP00000264025:p.Gln68*		O75465|Q2M3D3|Q9HBE6|Q9HBW2	Nonsense_Mutation	SNP	pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.Q68*	ENST00000264025.3	37	c.202	CCDS8426.1	11	.	.	.	.	.	.	.	.	.	.	G	33	5.217083	0.95104	.	.	ENSG00000110400	ENST00000341398;ENST00000264025;ENST00000340882	.	.	.	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.481	0.90811	0.0:0.0:1.0:0.0	.	.	.	.	X	68	.	.	Q	-	1	0	PVRL1	119054563	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.471000	0.97696	2.617000	0.88574	0.462000	0.41574	CAG	PVRL1	-	pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000110400		0.587	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRL1	HGNC	protein_coding	OTTHUMT00000388231.1	-	0.00	30	0	G			119549353	-1	tier1	-	no_errors	ENST00000264025	ensembl	human	known	74_37	nonsense	78.26	5	18	SNP	1.000	A
RANBP3L	202151	genome.wustl.edu	37	5	36253802	36253802	+	Nonsense_Mutation	SNP	G	G	A	rs375516541	byFrequency	TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:36253802G>A	ENST00000296604.3	-	12	1599	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	RANBP3L_ENST00000502994.1_Nonsense_Mutation_p.R397*	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	372	RanBD1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				intracellular transport (GO:0046907)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			GCTGTTATTCGTACATTTTTG	0.343													G|||	2	0.000399361	0.0	0.0	5008	,	,		17021	0.0		0.0	False		,,,				2504	0.002																0								G	stop/ARG,stop/ARG	0,4406		0,0,2203	176.0	161.0	166.0		1189,1114	2.4	0.9	5		166	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained,stop-gained	RANBP3L	NM_001161429.1,NM_145000.3	,	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	,	397/491,372/466	36253802	1,13003	2203	4299	6502	SO:0001587	stop_gained	0			BC047660	CCDS3918.1, CCDS54843.1	5p13.2	2008-02-05			ENSG00000164188	ENSG00000164188			26353	protein-coding gene	gene with protein product						12477932	Standard	NM_145000		Approved	FLJ25422	uc011cow.2	Q86VV4	OTTHUMG00000131110	ENST00000296604.3:c.1114C>T	5.37:g.36253802G>A	ENSP00000296604:p.Arg372*		B7Z866|E9PGP9|Q96LK2	Nonsense_Mutation	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.R372*	ENST00000296604.3	37	c.1114	CCDS3918.1	5	.	.	.	.	.	.	.	.	.	.	G	40	8.511014	0.98843	0.0	1.16E-4	ENSG00000164188	ENST00000296604;ENST00000502994	.	.	.	5.18	2.36	0.29203	.	0.608545	0.15537	N	0.257162	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.1002	5.7304	0.18036	0.1514:0.0:0.571:0.2776	.	.	.	.	X	372;397	.	ENSP00000296604:R372X	R	-	1	2	RANBP3L	36289559	1.000000	0.71417	0.894000	0.35097	0.984000	0.73092	3.072000	0.50049	0.265000	0.21872	-0.270000	0.10280	CGA	RANBP3L	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	ENSG00000164188		0.343	RANBP3L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RANBP3L	HGNC	protein_coding	OTTHUMT00000253773.2	-	0.00	91	0	G	NM_145000		36253802	-1	tier1	-	no_errors	ENST00000296604	ensembl	human	known	74_37	nonsense	43.72	103	80	SNP	0.990	A
RASAL3	64926	genome.wustl.edu	37	19	15571872	15571872	+	Splice_Site	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:15571872C>T	ENST00000343625.7	-	5	690	c.605G>A	c.(604-606)cGg>cAg	p.R202Q	RASAL3_ENST00000608577.1_5'Flank	NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	202	PH.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)	Ras GTPase activator activity (GO:0005099)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CTGCCTTACCCGAACGTTGTG	0.577																																																	0													45.0	48.0	47.0					19																	15571872		1956	4141	6097	SO:0001630	splice_region_variant	0				CCDS46006.1	19p13.12	2008-12-18			ENSG00000105122	ENSG00000105122			26129	protein-coding gene	gene with protein product						12477932	Standard	NM_022904		Approved	FLJ21438	uc002nbe.2	Q86YV0		ENST00000343625.7:c.606+1G>A	19.37:g.15571872C>T			Q8N2T9|Q9H735	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RasGAP,pfscan_RasGAP	p.R202Q	ENST00000343625.7	37	c.605	CCDS46006.1	19	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164692	0.57476	.	.	ENSG00000105122	ENST00000343625	T	0.28454	1.61	3.42	3.42	0.39159	Pleckstrin homology domain (1);	0.381500	0.15103	U	0.280394	T	0.15435	0.0372	N	0.14661	0.345	0.27942	N	0.937494	D	0.53619	0.961	B	0.42771	0.397	T	0.03325	-1.1048	10	0.02654	T	1	.	10.6501	0.45642	0.0:1.0:0.0:0.0	.	202	Q86YV0	RASL3_HUMAN	Q	202	ENSP00000341905:R202Q	ENSP00000341905:R202Q	R	-	2	0	RASAL3	15432872	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	3.239000	0.51360	2.206000	0.71126	0.462000	0.41574	CGG	RASAL3	-	NULL	ENSG00000105122		0.577	RASAL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASAL3	HGNC	protein_coding	OTTHUMT00000461331.3	-	0.00	59	0	C	NM_022904	Missense_Mutation	15571872	-1	tier1	-	no_errors	ENST00000343625	ensembl	human	known	74_37	missense	44.44	55	44	SNP	1.000	T
RGS12	6002	genome.wustl.edu	37	4	3419238	3419238	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:3419238delA	ENST00000344733.5	+	9	3635	c.2731delA	c.(2731-2733)aaafs	p.K912fs	RGS12_ENST00000538395.1_Frame_Shift_Del_p.K254fs|RGS12_ENST00000306648.7_Frame_Shift_Del_p.K310fs|RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000382788.3_Frame_Shift_Del_p.K912fs|RGS12_ENST00000336727.3_Frame_Shift_Del_p.K912fs|RGS12_ENST00000338806.4_Frame_Shift_Del_p.K264fs	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	912					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GAGGTCCCAGAAAAAGAGGGA	0.652																																																	0													44.0	44.0	44.0					4																	3419238		2203	4300	6503	SO:0001589	frameshift_variant	0			AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.2731delA	4.37:g.3419238delA	ENSP00000339381:p.Lys912fs		B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Frame_Shift_Del	DEL	pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom	p.K912fs	ENST00000344733.5	37	c.2731	CCDS3366.1	4																																																																																			RGS12	-	NULL	ENSG00000159788		0.652	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS12	HGNC	protein_coding	OTTHUMT00000206602.1		0.00	67	0	A	NM_002926		3419238	+1	tier1		no_errors	ENST00000344733	ensembl	human	known	74_37	frame_shift_del	9.76	37	4	DEL	1.000	-
RIC3	79608	genome.wustl.edu	37	11	8160038	8160039	+	Intron	INS	-	-	A	rs375158553|rs58292164		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:8160038_8160039insA	ENST00000309737.6	-	3	351				RIC3_ENST00000539720.1_Intron|RIC3_ENST00000343202.4_Intron|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000335425.7_Intron			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone						cellular protein complex assembly (GO:0043623)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein folding (GO:0006457)|synaptic transmission, cholinergic (GO:0007271)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		AGAAATAGCTCAAAAAAAAAAA	0.332																																																	0																																										SO:0001627	intron_variant	0				CCDS7788.1, CCDS44533.1, CCDS55741.1, CCDS55742.1	11p15.4	2013-08-05	2013-08-05		ENSG00000166405	ENSG00000166405			30338	protein-coding gene	gene with protein product		610509	"""resistance to inhibitors of cholinesterase 3 homolog (C. elegans)"""			12821669	Standard	NM_024557		Approved	FLJ11608, PRO1385, AYST720	uc001mgd.2	Q7Z5B4	OTTHUMG00000165694	ENST00000309737.6:c.352-144->T	11.37:g.8160049_8160049dupA			B0B1U0|B2RD25|D3DQU5|Q6UX78|Q7Z5B3|Q86T94|Q8TBJ9|Q9HAH8	RNA	INS	-	NULL	ENST00000309737.6	37	NULL	CCDS55742.1	11																																																																																			RIC3	-	-	ENSG00000166405		0.332	RIC3-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIC3	HGNC	protein_coding	OTTHUMT00000385900.1		0.00	12	0	-	NM_024557		8160039	-1	tier1		no_errors	ENST00000524799	ensembl	human	known	74_37	rna	25.00	9	3	INS	0.000:0.000	A
RNF103	7844	genome.wustl.edu	37	2	86831974	86831975	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:86831974_86831975insA	ENST00000237455.4	-	4	2017_2018	c.1049_1050insT	c.(1048-1050)atafs	p.I350fs	AC015971.2_ENST00000426549.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000424788.1_RNA|AC015971.2_ENST00000597638.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000439077.1_RNA|RNF103_ENST00000477307.1_5'UTR	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	350					central nervous system development (GO:0007417)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein ubiquitination (GO:0016567)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						CAAATCGCTTTATGGTAGCTCC	0.376																																																	0																																										SO:0001589	frameshift_variant	0			D76444	CCDS33237.1	2p11.2	2013-01-09	2003-05-14	2003-05-16	ENSG00000239305	ENSG00000239305		"""RING-type (C3HC4) zinc fingers"""	12859	protein-coding gene	gene with protein product		602507	"""zinc finger protein 103 homolog (mouse)"""	ZFP103		9070305	Standard	NM_005667		Approved	hkf-1, KF1	uc021vkg.1	O00237	OTTHUMG00000153197	ENST00000237455.4:c.1050dupT	2.37:g.86831975_86831975dupA	ENSP00000237455:p.Ile350fs		A6NFV6|B2RAG4|Q53SU6|Q8IVB9	Frame_Shift_Ins	INS	pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING	p.R352fs	ENST00000237455.4	37	c.1050_1049	CCDS33237.1	2																																																																																			RNF103	-	NULL	ENSG00000239305		0.376	RNF103-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF103	HGNC	protein_coding	OTTHUMT00000330041.2		0.00	62	0	-	NM_005667		86831975	-1	tier1		no_errors	ENST00000237455	ensembl	human	known	74_37	frame_shift_ins	19.64	45	11	INS	0.588:1.000	A
ROCK2	9475	genome.wustl.edu	37	2	11332707	11332707	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:11332707G>T	ENST00000315872.6	-	31	4267	c.3819C>A	c.(3817-3819)aaC>aaA	p.N1273K	ROCK2_ENST00000401753.1_Missense_Mutation_p.N1030K	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1273	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AAGCCTCACAGTTGGTTGGGA	0.428																																																	0													70.0	63.0	65.0					2																	11332707		1838	4088	5926	SO:0001583	missense	0			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.3819C>A	2.37:g.11332707G>T	ENSP00000317985:p.Asn1273Lys		Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom	p.N1273K	ENST00000315872.6	37	c.3819	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	G	20.3	3.970455	0.74246	.	.	ENSG00000134318	ENST00000315872;ENST00000401753;ENST00000399089	T;T	0.28069	1.63;1.63	5.52	3.73	0.42828	Protein kinase C-like, phorbol ester/diacylglycerol binding (2);Pleckstrin homology domain (3);	0.133468	0.64402	D	0.000003	T	0.34658	0.0905	M	0.64997	1.995	0.51233	D	0.999914	P	0.42337	0.776	P	0.45794	0.493	T	0.04294	-1.0962	10	0.28530	T	0.3	.	9.9629	0.41708	0.2344:0.0:0.7656:0.0	.	1273	O75116	ROCK2_HUMAN	K	1273;1030;631	ENSP00000317985:N1273K;ENSP00000385509:N1030K	ENSP00000317985:N1273K	N	-	3	2	ROCK2	11250158	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.180000	0.58296	0.711000	0.32018	0.591000	0.81541	AAC	ROCK2	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd	ENSG00000134318		0.428	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	HGNC	protein_coding	OTTHUMT00000313886.3	-	0.00	53	0	G			11332707	-1	tier1	-	no_errors	ENST00000315872	ensembl	human	known	74_37	missense	5.13	73	4	SNP	1.000	T
ROS1	6098	genome.wustl.edu	37	6	117715336	117715336	+	Missense_Mutation	SNP	T	T	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr6:117715336T>G	ENST00000368508.3	-	10	1351	c.1153A>C	c.(1153-1155)Atg>Ctg	p.M385L	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.M394L	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	385					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGTTCATCCATGATGAAATAC	0.333			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													48.0	50.0	50.0					6																	117715336		2202	4298	6500	SO:0001583	missense	0			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1153A>C	6.37:g.117715336T>G	ENSP00000357494:p.Met385Leu		Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M385L	ENST00000368508.3	37	c.1153	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	T	12.69	2.013930	0.35511	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.90844	-2.74;-2.74	5.12	5.12	0.69794	.	0.000000	0.85682	D	0.000000	D	0.91915	0.7440	L	0.60455	1.87	0.80722	D	1	P	0.48016	0.904	P	0.61658	0.892	D	0.91580	0.5278	10	0.42905	T	0.14	.	14.8014	0.69919	0.0:0.0:0.0:1.0	.	385	P08922	ROS1_HUMAN	L	385;394	ENSP00000357494:M385L;ENSP00000357493:M394L	ENSP00000357493:M394L	M	-	1	0	ROS1	117822029	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.521000	0.53472	2.237000	0.73441	0.528000	0.53228	ATG	ROS1	-	smart_LDLR_classB_rpt	ENSG00000047936		0.333	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	-	0.00	47	0	T			117715336	-1	tier1	-	no_errors	ENST00000368508	ensembl	human	known	74_37	missense	36.00	48	27	SNP	1.000	G
RP1L1	94137	genome.wustl.edu	37	8	10470478	10470478	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr8:10470478G>T	ENST00000382483.3	-	4	1353	c.1130C>A	c.(1129-1131)tCa>tAa	p.S377*		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	377					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCCAGGCTCTGAGAAGCCCCA	0.672																																																	0													43.0	49.0	47.0					8																	10470478		1874	4090	5964	SO:0001587	stop_gained	0			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.1130C>A	8.37:g.10470478G>T	ENSP00000371923:p.Ser377*		Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Nonsense_Mutation	SNP	pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.S377*	ENST00000382483.3	37	c.1130	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.595422	0.96602	.	.	ENSG00000183638	ENST00000382483	.	.	.	5.2	1.52	0.23074	.	0.339027	0.16821	U	0.198158	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.6378	6.1658	0.20390	0.2161:0.1387:0.6451:0.0	.	.	.	.	X	377	.	ENSP00000371923:S377X	S	-	2	0	RP1L1	10507888	0.040000	0.19996	0.000000	0.03702	0.002000	0.02628	2.040000	0.41203	-0.009000	0.14296	0.561000	0.74099	TCA	RP1L1	-	NULL	ENSG00000183638		0.672	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1		0.00	30	0	G			10470478	-1			no_errors	ENST00000382483	ensembl	human	known	74_37	nonsense	8.70	21	2	SNP	0.000	T
LRRC23	10233	genome.wustl.edu	37	12	6993766	6993767	+	Intron	INS	-	-	A	rs79133304		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:6993766_6993767insA	ENST00000433346.1	+	2	429				RPL13P5_ENST00000412023.1_RNA|SPSB2_ENST00000437851.1_Intron|DSTNP2_ENST00000602547.1_RNA|LRRC23_ENST00000449039.1_Intron			Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23											NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AGAGGACGCTTAAAAAAAAAAA	0.54													|||unknown(HR)	1967	0.392772	0.6974	0.2738	5008	,	,		18515	0.2183		0.3012	False		,,,				2504	0.3395																0																																										SO:0001627	intron_variant	0			BC014450	CCDS8568.1, CCDS8569.1	12p13	2006-02-02			ENSG00000010626	ENSG00000010626			19138	protein-coding gene	gene with protein product						11830501, 11826754	Standard	NM_201650		Approved	B7, LRPB7	uc001qrp.3	Q53EV4	OTTHUMG00000156668	ENST00000433346.1:c.-50+683->A	12.37:g.6993777_6993777dupA			A8K8C6|D3DUT1|Q8N6K6|Q92977|Q99620	RNA	INS	-	NULL	ENST00000433346.1	37	NULL		12																																																																																			RPL13P5	-	-	ENSG00000240370		0.540	LRRC23-011	PUTATIVE	basic	protein_coding	RPL13P5	HGNC	protein_coding	OTTHUMT00000345224.1		0.00	8	0	-	NM_006992		6993767	+1	tier1		no_errors	ENST00000412023	ensembl	human	known	74_37	rna	23.53	13	4	INS	0.999:1.000	A
RYR3	6263	genome.wustl.edu	37	15	34042408	34042408	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr15:34042408G>T	ENST00000389232.4	+	57	8390	c.8320G>T	c.(8320-8322)Gcc>Tcc	p.A2774S	RYR3_ENST00000415757.3_Missense_Mutation_p.A2774S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2774	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CACCTTGACTGCCAAGGAAAA	0.498																																																	0													73.0	69.0	70.0					15																	34042408		1940	4153	6093	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8320G>T	15.37:g.34042408G>T	ENSP00000373884:p.Ala2774Ser		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif	p.A2774S	ENST00000389232.4	37	c.8320	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	21.7	4.188738	0.78789	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.91894	-2.93;-2.93	4.85	4.85	0.62838	Ryanodine receptor Ryr (1);	0.075926	0.51477	D	0.000085	D	0.95705	0.8603	M	0.82630	2.6	0.80722	D	1	B;P	0.34639	0.132;0.461	B;P	0.51833	0.134;0.681	D	0.94951	0.8100	10	0.45353	T	0.12	.	18.5103	0.90914	0.0:0.0:1.0:0.0	.	2774;2774	Q15413-2;Q15413	.;RYR3_HUMAN	S	2774	ENSP00000373884:A2774S;ENSP00000399610:A2774S	ENSP00000354735:A2774S	A	+	1	0	RYR3	31829700	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.601000	0.98297	2.676000	0.91093	0.655000	0.94253	GCC	RYR3	-	pfam_Ryanodine_rcpt,superfamily_ARM-type_fold	ENSG00000198838		0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	-	0.00	75	0	G			34042408	+1	tier1	-	no_errors	ENST00000389232	ensembl	human	known	74_37	missense	5.71	66	4	SNP	1.000	T
SCAF1	58506	genome.wustl.edu	37	19	50158059	50158059	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:50158059G>T	ENST00000360565.3	+	9	3674	c.3550G>T	c.(3550-3552)Ggg>Tgg	p.G1184W		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1184					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CACCCCCACCGGGCTGGCTGC	0.697																																																	0													20.0	23.0	22.0					19																	50158059		2199	4286	6485	SO:0001583	missense	0			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.3550G>T	19.37:g.50158059G>T	ENSP00000353769:p.Gly1184Trp		Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	NULL	p.G1184W	ENST00000360565.3	37	c.3550	CCDS33074.1	19	.	.	.	.	.	.	.	.	.	.	g	17.08	3.298258	0.60195	.	.	ENSG00000126461	ENST00000360565	T	0.34667	1.35	5.22	5.22	0.72569	.	0.092651	0.42682	D	0.000661	T	0.48132	0.1483	N	0.24115	0.695	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	T	0.50600	-0.8809	10	0.66056	D	0.02	-35.342	17.7019	0.88298	0.0:0.0:1.0:0.0	.	1184	Q9H7N4	SFR19_HUMAN	W	1184	ENSP00000353769:G1184W	ENSP00000353769:G1184W	G	+	1	0	SCAF1	54849871	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	3.639000	0.54339	2.716000	0.92895	0.651000	0.88453	GGG	SCAF1	-	NULL	ENSG00000126461		0.697	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF1	HGNC	protein_coding	OTTHUMT00000465764.1		0.00	19	0	G	NM_021228		50158059	+1			no_errors	ENST00000360565	ensembl	human	known	74_37	missense	10.00	27	3	SNP	0.999	T
SETD2	29072	genome.wustl.edu	37	3	47165837	47165837	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:47165837G>T	ENST00000409792.3	-	3	331	c.289C>A	c.(289-291)Caa>Aaa	p.Q97K		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	97					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTATCACTTTGCTTTTCATTG	0.413			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													245.0	205.0	217.0					3																	47165837		692	1591	2283	SO:0001583	missense	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.289C>A	3.37:g.47165837G>T	ENSP00000386759:p.Gln97Lys		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom	p.Q97K	ENST00000409792.3	37	c.289	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464080	0.26335	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.90069	-2.61;1.28	5.42	5.42	0.78866	.	.	.	.	.	D	0.83078	0.5176	N	0.19112	0.55	0.28934	N	0.891383	B;B	0.34015	0.435;0.435	B;B	0.29598	0.104;0.054	T	0.80004	-0.1564	9	0.87932	D	0	.	19.2139	0.93768	0.0:0.0:1.0:0.0	.	97;97	F2Z317;Q9BYW2	.;SETD2_HUMAN	K	97;97;97;53	ENSP00000386759:Q97K;ENSP00000416401:Q53K	ENSP00000386759:Q97K	Q	-	1	0	SETD2	47140841	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	5.381000	0.66208	2.534000	0.85438	0.563000	0.77884	CAA	SETD2	-	NULL	ENSG00000181555		0.413	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	-	0.00	66	0	G	NM_014159		47165837	-1	tier1	-	no_errors	ENST00000409792	ensembl	human	known	74_37	missense	6.15	61	4	SNP	1.000	T
SH3PXD2A	9644	genome.wustl.edu	37	10	105386873	105386873	+	Missense_Mutation	SNP	C	C	T	rs147297499		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:105386873C>T	ENST00000369774.4	-	9	967	c.691G>A	c.(691-693)Gac>Aac	p.D231N	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Missense_Mutation_p.D93N|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.D231N|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.D66N|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.D98N			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	231					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GTGTTGATGTCGGAGTCATCC	0.607																																																	0								C	ASN/ASP	0,4406		0,0,2203	114.0	93.0	100.0		691	5.3	1.0	10	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	yes	missense	SH3PXD2A	NM_014631.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	231/1106	105386873	1,13005	2203	4300	6503	SO:0001583	missense	0			AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.691G>A	10.37:g.105386873C>T	ENSP00000358789:p.Asp231Asn		D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.D231N	ENST00000369774.4	37	c.691		10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.96|19.96	3.922734|3.922734	0.73213|0.73213	0.0|0.0	1.16E-4|1.16E-4	ENSG00000107957|ENSG00000107957	ENST00000427662;ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130|ENST00000420222	T;T;T;T;T|.	0.58210|.	0.45;0.42;0.44;0.57;0.35|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Src homology-3 domain (1);|.	0.189255|.	0.53938|.	D|.	0.000042|.	T|T	0.50188|0.50188	0.1601|0.1601	N|N	0.14661|0.14661	0.345|0.345	0.53005|0.53005	D|D	0.999964|0.999964	P;P;P;P;P|.	0.46142|.	0.693;0.731;0.873;0.731;0.796|.	B;B;B;B;B|.	0.42245|.	0.103;0.155;0.381;0.102;0.209|.	T|T	0.45716|0.45716	-0.9242|-0.9242	10|5	0.41790|.	T|.	0.15|.	-39.0659|-39.0659	17.7733|17.7733	0.88500|0.88500	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	231;108;93;104;231|.	Q5TCZ1;B7Z9L8;F8WCK5;B7Z3B0;Q5TCZ1-3|.	SPD2A_HUMAN;.;.;.;.|.	N|Q	93;231;231;66;146;98;66|185	ENSP00000392664:D93N;ENSP00000358789:D231N;ENSP00000348215:D231N;ENSP00000443663:D98N;ENSP00000441514:D66N|.	ENSP00000318135:D66N|.	D|R	-|-	1|2	0|0	SH3PXD2A|SH3PXD2A	105376863|105376863	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.973000|0.973000	0.67179|0.67179	7.468000|7.468000	0.80943|0.80943	2.499000|2.499000	0.84300|0.84300	0.555000|0.555000	0.69702|0.69702	GAC|CGA	SH3PXD2A	-	superfamily_SH3_domain	ENSG00000107957		0.607	SH3PXD2A-001	KNOWN	basic	protein_coding	SH3PXD2A	HGNC	protein_coding	OTTHUMT00000050178.1		0.00	41	0	C	NM_014631		105386873	-1			no_errors	ENST00000369774	ensembl	human	known	74_37	missense	6.82	41	3	SNP	0.989	T
SH3TC2	79628	genome.wustl.edu	37	5	148407158	148407158	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:148407158G>T	ENST00000515425.1	-	11	2238	c.2137C>A	c.(2137-2139)Ctt>Att	p.L713I	SH3TC2_ENST00000512049.1_Missense_Mutation_p.L706I|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000538184.1_Missense_Mutation_p.L260I|SH3TC2_ENST00000394358.2_Missense_Mutation_p.L598I	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	713					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGGACAAGGTGGACCTGC	0.547																																																	0													101.0	103.0	102.0					5																	148407158		2203	4300	6503	SO:0001583	missense	0			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2137C>A	5.37:g.148407158G>T	ENSP00000423660:p.Leu713Ile		B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain	p.L713I	ENST00000515425.1	37	c.2137	CCDS4293.1	5	.	.	.	.	.	.	.	.	.	.	G	12.50	1.956169	0.34565	.	.	ENSG00000169247	ENST00000538184;ENST00000515425;ENST00000512049;ENST00000394358	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	6.16	2.0	0.26442	.	0.083509	0.49305	D	0.000152	T	0.74520	0.3727	M	0.67700	2.07	0.37946	D	0.932495	D;D;D;D	0.69078	0.997;0.966;0.966;0.966	P;B;B;B	0.61397	0.888;0.376;0.376;0.376	T	0.71735	-0.4503	10	0.48119	T	0.1	-5.952	3.4885	0.07629	0.4444:0.0:0.2641:0.2914	.	598;706;713;713	C9JLC3;Q14CC0;E9PDF1;Q8TF17	.;.;.;S3TC2_HUMAN	I	260;713;706;598	ENSP00000441427:L260I;ENSP00000423660:L713I;ENSP00000421860:L706I;ENSP00000377886:L598I	ENSP00000377886:L598I	L	-	1	0	SH3TC2	148387351	0.504000	0.26123	0.992000	0.48379	0.993000	0.82548	0.414000	0.21164	0.047000	0.15862	0.650000	0.86243	CTT	SH3TC2	-	NULL	ENSG00000169247		0.547	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3TC2	HGNC	protein_coding	OTTHUMT00000252186.2		0.00	83	0	G	NM_024577		148407158	-1			no_errors	ENST00000515425	ensembl	human	known	74_37	missense	5.17	55	3	SNP	0.988	T
SIK2	23235	genome.wustl.edu	37	11	111558830	111558830	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:111558830G>T	ENST00000304987.3	+	4	595	c.422G>T	c.(421-423)cGt>cTt	p.R141L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	141	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						ATTGTGCACCGTGACCTCAAA	0.443																																																	0													116.0	106.0	109.0					11																	111558830		2201	4297	6498	SO:0001583	missense	0			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.422G>T	11.37:g.111558830G>T	ENSP00000305976:p.Arg141Leu		A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R141L	ENST00000304987.3	37	c.422	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.608426	0.96626	.	.	ENSG00000170145	ENST00000304987	T	0.47528	0.84	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.76385	0.3980	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80661	-0.1283	10	0.87932	D	0	.	19.6085	0.95589	0.0:0.0:1.0:0.0	.	141	Q9H0K1	SIK2_HUMAN	L	141	ENSP00000305976:R141L	ENSP00000305976:R141L	R	+	2	0	SIK2	111064040	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.380000	0.97202	2.729000	0.93468	0.655000	0.94253	CGT	SIK2	-	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	ENSG00000170145		0.443	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3		0.00	42	0	G	NM_015191		111558830	+1			no_errors	ENST00000304987	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	T
SLC1A1	6505	genome.wustl.edu	37	9	4585394	4585394	+	Nonsense_Mutation	SNP	G	G	T	rs201892735		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:4585394G>T	ENST00000262352.3	+	12	1647	c.1411G>T	c.(1411-1413)Gag>Tag	p.E471*		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	471					D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate binding (GO:0016595)|glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|Pregabalin(DB00230)	GAAGGAGCTGGAGCAGATGGA	0.502																																																	0													130.0	100.0	110.0					9																	4585394		2203	4300	6503	SO:0001587	stop_gained	0				CCDS6452.1	9p24	2013-05-22			ENSG00000106688	ENSG00000106688		"""Solute carriers"""	10939	protein-coding gene	gene with protein product		133550				8020993	Standard	NM_004170		Approved	EAAC1, EAAT3	uc003zij.2	P43005	OTTHUMG00000019468	ENST00000262352.3:c.1411G>T	9.37:g.4585394G>T	ENSP00000262352:p.Glu471*		O75587|Q5VZ24|Q8N199|Q9UEW2	Nonsense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.E471*	ENST00000262352.3	37	c.1411	CCDS6452.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.4|21.4	4.141287|4.141287	0.77775|0.77775	.|.	.|.	ENSG00000106688|ENSG00000106688	ENST00000262352|ENST00000422398	.|.	.|.	.|.	5.71|5.71	4.79|4.79	0.61399|0.61399	.|.	0.143538|.	0.64402|.	D|.	0.000008|.	.|T	.|0.72763	.|0.3501	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72547	.|-0.4260	.|4	0.16896|.	T|.	0.51|.	.|.	16.4975|16.4975	0.84249|0.84249	0.0:0.1312:0.8688:0.0|0.0:0.1312:0.8688:0.0	.|.	.|.	.|.	.|.	X|V	471|188	.|.	ENSP00000262352:E471X|.	E|G	+|+	1|2	0|0	SLC1A1|SLC1A1	4575394|4575394	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.390000|5.390000	0.66261|0.66261	1.376000|1.376000	0.46267|0.46267	0.563000|0.563000	0.77884|0.77884	GAG|GGA	SLC1A1	-	NULL	ENSG00000106688		0.502	SLC1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A1	HGNC	protein_coding	OTTHUMT00000051571.1	-	0.00	54	0	G			4585394	+1	tier1	-	no_errors	ENST00000262352	ensembl	human	known	74_37	nonsense	5.26	72	4	SNP	1.000	T
SLC25A13	10165	genome.wustl.edu	37	7	95799431	95799431	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:95799431C>A	ENST00000265631.5	-	13	1373	c.1237G>T	c.(1237-1239)Gat>Tat	p.D413Y	SLC25A13_ENST00000416240.2_Missense_Mutation_p.D414Y|SLC25A13_ENST00000542654.1_Missense_Mutation_p.D305Y			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	413					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CTCACAAAATCGTTCACCTTG	0.333																																																	0													82.0	85.0	84.0					7																	95799431		2203	4300	6503	SO:0001583	missense	0			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1237G>T	7.37:g.95799431C>A	ENSP00000265631:p.Asp413Tyr		O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.D414Y	ENST00000265631.5	37	c.1240	CCDS5645.1	7	.	.	.	.	.	.	.	.	.	.	C	20.6	4.014598	0.75161	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.80994	-1.44;-1.44;-1.44	5.06	5.06	0.68205	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.90676	0.7075	M	0.83692	2.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.91554	0.5259	10	0.87932	D	0	-21.4166	19.0145	0.92888	0.0:1.0:0.0:0.0	.	305;414;413	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	Y	413;414;305	ENSP00000265631:D413Y;ENSP00000400101:D414Y;ENSP00000440484:D305Y	ENSP00000265631:D413Y	D	-	1	0	SLC25A13	95637367	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.520000	0.73773	2.809000	0.96659	0.467000	0.42956	GAT	SLC25A13	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	ENSG00000004864		0.333	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A13	HGNC	protein_coding	OTTHUMT00000059395.2	-	0.00	62	0	C	NM_014251		95799431	-1	tier1	-	no_errors	ENST00000416240	ensembl	human	known	74_37	missense	6.90	81	6	SNP	1.000	A
SLC35E3	55508	genome.wustl.edu	37	12	69145879	69145879	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:69145879T>C	ENST00000398004.2	+	3	853	c.581T>C	c.(580-582)aTg>aCg	p.M194T		NM_018656.2	NP_061126.2	Q7Z769	S35E3_HUMAN	solute carrier family 35, member E3	194						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Breast(13;2.31e-06)|Renal(347;0.0684)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00372)			CAGGCTCCGATGTCATCTGCC	0.463																																																	0													235.0	225.0	228.0					12																	69145879		2017	4183	6200	SO:0001583	missense	0			AF148713, AY358943	CCDS41808.1	12q15	2014-09-04			ENSG00000175782	ENSG00000175782		"""Solute carriers"""	20864	protein-coding gene	gene with protein product						12975309	Standard	XM_005269006		Approved	BLOV1	uc001suh.3	Q7Z769	OTTHUMG00000169282	ENST00000398004.2:c.581T>C	12.37:g.69145879T>C	ENSP00000381089:p.Met194Thr		A8K0T0|Q0P5Y5|Q9P0V1	Missense_Mutation	SNP	pfam_Tpt_PEP_trans_dom,pfam_DMT	p.M194T	ENST00000398004.2	37	c.581	CCDS41808.1	12	.	.	.	.	.	.	.	.	.	.	T	17.07	3.296189	0.60086	.	.	ENSG00000175782	ENST00000398004;ENST00000431174	T;T	0.63744	-0.06;1.29	5.59	5.59	0.84812	Domain of unknown function DUF250 (1);	0.041255	0.85682	D	0.000000	T	0.53706	0.1813	L	0.37630	1.12	0.58432	D	0.999999	B	0.15930	0.015	B	0.23150	0.044	T	0.48068	-0.9067	9	.	.	.	-0.3555	16.0729	0.80948	0.0:0.0:0.0:1.0	.	194	Q7Z769	S35E3_HUMAN	T	194;4	ENSP00000381089:M194T;ENSP00000403769:M4T	.	M	+	2	0	SLC35E3	67432146	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	7.698000	0.84413	2.266000	0.75297	0.454000	0.30748	ATG	SLC35E3	-	pfam_Tpt_PEP_trans_dom,pfam_DMT	ENSG00000175782		0.463	SLC35E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35E3	HGNC	protein_coding	OTTHUMT00000403241.1	-	0.00	74	0	T	NM_018656		69145879	+1	tier1	-	no_errors	ENST00000398004	ensembl	human	known	74_37	missense	43.18	100	76	SNP	1.000	C
SLC44A4	80736	genome.wustl.edu	37	6	31832357	31832357	+	Intron	DEL	A	A	-			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr6:31832357delA	ENST00000229729.6	-	20	2032				NEU1_ENST00000375631.4_5'Flank|SLC44A4_ENST00000375562.4_Intron|SLC44A4_ENST00000544672.1_Intron	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4						acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CCAAATCTCCAAAAAAAAAAA	0.488																																																	0																																										SO:0001627	intron_variant	0			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.2011+71T>-	6.37:g.31832357delA			A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	RNA	DEL	-	NULL	ENST00000229729.6	37	NULL	CCDS4724.2	6																																																																																			SLC44A4	-	-	ENSG00000204385		0.488	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC44A4	HGNC	protein_coding	OTTHUMT00000076234.3		0.00	24	0	A			31832357	-1	tier1		no_errors	ENST00000487680	ensembl	human	putative	74_37	rna	16.13	26	5	DEL	0.055	-
SLC4A1	6521	genome.wustl.edu	37	17	42335486	42335486	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:42335486G>A	ENST00000262418.6	-	11	1305	c.1150C>T	c.(1150-1152)Cgt>Tgt	p.R384C	SLC4A1_ENST00000471005.1_5'Flank|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1 (Diego blood group)	384					anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular ion homeostasis (GO:0006873)|chloride transport (GO:0006821)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cortical cytoskeleton (GO:0030863)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	anion transmembrane transporter activity (GO:0008509)|anion:anion antiporter activity (GO:0015301)|ankyrin binding (GO:0030506)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CGGATATCACGCACCAGGCCC	0.577																																																	0													74.0	80.0	78.0					17																	42335486		2203	4300	6503	SO:0001583	missense	0				CCDS11481.1	17q21.31	2014-07-19	2014-01-02		ENSG00000004939	ENSG00000004939		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	11027	protein-coding gene	gene with protein product	"""Froese blood group"", ""Swann blood group"", ""Wright blood group"""	109270	"""Waldner blood group"", ""erythrocyte membrane protein band 3"", ""Diego blood group"", ""solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group)"", ""solute carrier family 4 (anion exchanger), member 1"""	EPB3, AE1, DI, WD		8434259	Standard	NM_000342		Approved	RTA1A, CD233, FR, SW, WR	uc002igf.4	P02730	OTTHUMG00000156843	ENST00000262418.6:c.1150C>T	17.37:g.42335486G>A	ENSP00000262418:p.Arg384Cys		G4V2I6|P78487|Q1ZZ45|Q4KKW9|Q4VB84|Q9UCY7|Q9UDJ1	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk	p.R384C	ENST00000262418.6	37	c.1150	CCDS11481.1	17	.	.	.	.	.	.	.	.	.	.	g	17.87	3.495763	0.64186	.	.	ENSG00000004939	ENST00000262418	T	0.80214	-1.35	4.82	3.8	0.43715	Bicarbonate transporter, C-terminal (1);Anion exchange, conserved site (1);	0.209958	0.37304	N	0.002160	D	0.88724	0.6514	M	0.86953	2.85	0.30842	N	0.735536	D;D	0.76494	0.999;0.999	P;P	0.62382	0.88;0.901	D	0.87538	0.2457	10	0.87932	D	0	.	12.3115	0.54931	0.0:0.0:0.7332:0.2668	.	384;384	E2RVJ0;P02730	.;B3AT_HUMAN	C	384	ENSP00000262418:R384C	ENSP00000262418:R384C	R	-	1	0	SLC4A1	39691012	0.418000	0.25440	0.712000	0.30502	0.913000	0.54294	1.988000	0.40697	2.490000	0.84030	0.561000	0.74099	CGT	SLC4A1	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk	ENSG00000004939		0.577	SLC4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A1	HGNC	protein_coding	OTTHUMT00000346194.1	-	0.00	32	0	G	NM_000342		42335486	-1	tier1	-	no_errors	ENST00000262418	ensembl	human	known	74_37	missense	40.00	27	18	SNP	0.117	A
SLC6A3	6531	genome.wustl.edu	37	5	1422077	1422077	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr5:1422077G>A	ENST00000270349.9	-	5	833	c.706C>T	c.(706-708)Ccg>Tcg	p.P236S	SLC6A3_ENST00000453492.2_Missense_Mutation_p.P236S	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	236					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TGCCACCGCGGAGGCCCCAGG	0.662																																																	0													74.0	70.0	71.0					5																	1422077		2202	4300	6502	SO:0001583	missense	0				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.706C>T	5.37:g.1422077G>A	ENSP00000270349:p.Pro236Ser		A2RUN4|Q14996	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.P236S	ENST00000270349.9	37	c.706	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052666	0.75960	.	.	ENSG00000142319	ENST00000270349;ENST00000453492;ENST00000513308	T;T;T	0.74002	-0.8;-0.8;-0.8	4.4	4.4	0.53042	.	0.125660	0.53938	D	0.000046	D	0.89136	0.6629	M	0.93808	3.46	0.54753	D	0.999988	D	0.89917	1.0	D	0.91635	0.999	D	0.91862	0.5500	10	0.66056	D	0.02	.	14.8325	0.70159	0.0:0.0:1.0:0.0	.	236	Q01959	SC6A3_HUMAN	S	236;236;162	ENSP00000270349:P236S;ENSP00000399806:P236S;ENSP00000429101:P162S	ENSP00000270349:P236S	P	-	1	0	SLC6A3	1475077	1.000000	0.71417	0.958000	0.39756	0.890000	0.51754	7.041000	0.76558	2.145000	0.66743	0.462000	0.41574	CCG	SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000142319		0.662	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	-	0.00	38	0	G	NM_001044		1422077	-1	tier1	-	no_errors	ENST00000270349	ensembl	human	known	74_37	missense	24.11	85	27	SNP	0.966	A
SMEK2	57223	genome.wustl.edu	37	2	55842612	55842612	+	Missense_Mutation	SNP	G	G	T	rs199567326		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:55842612G>T	ENST00000345102.5	-	2	474	c.173C>A	c.(172-174)cCa>cAa	p.P58Q	SMEK2_ENST00000477749.1_5'UTR|SMEK2_ENST00000272313.5_Missense_Mutation_p.P58Q|RP11-554J4.1_ENST00000608113.1_RNA|SMEK2_ENST00000407823.3_Missense_Mutation_p.P58Q	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	58	WH1.				positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGCAGTATTTGGATTTATCTT	0.299																																																	0													87.0	91.0	90.0					2																	55842612		2202	4299	6501	SO:0001583	missense	0			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.173C>A	2.37:g.55842612G>T	ENSP00000339769:p.Pro58Gln		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.P58Q	ENST00000345102.5	37	c.173	CCDS46289.1	2	.	.	.	.	.	.	.	.	.	.	G	17.83	3.486420	0.63962	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.43688	0.94;0.94;0.94	5.4	5.4	0.78164	Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.38639	0.1048	L	0.35723	1.085	0.80722	D	1	B;P;B	0.45768	0.036;0.866;0.082	B;B;B	0.42555	0.036;0.391;0.059	T	0.08330	-1.0727	10	0.25106	T	0.35	-7.0955	19.1747	0.93599	0.0:0.0:1.0:0.0	.	58;58;58	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3	.;P4R3B_HUMAN;.	Q	58	ENSP00000272313:P58Q;ENSP00000385912:P58Q;ENSP00000339769:P58Q	ENSP00000272313:P58Q	P	-	2	0	SMEK2	55696116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.983000	0.93477	2.548000	0.85928	0.650000	0.86243	CCA	SMEK2	-	NULL	ENSG00000138041		0.299	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1	-	0.00	65	0	G	NM_020463		55842612	-1	tier1	-	no_errors	ENST00000272313	ensembl	human	known	74_37	missense	7.41	50	4	SNP	1.000	T
SMG6	23293	genome.wustl.edu	37	17	2196214	2196214	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:2196214T>C	ENST00000263073.6	-	5	2259	c.2209A>G	c.(2209-2211)Agg>Ggg	p.R737G	SMG6_ENST00000544865.1_Missense_Mutation_p.R706G	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	737					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCCCGGTACCTAGCAATATCT	0.443																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													137.0	127.0	131.0					17																	2196214		2203	4300	6503	SO:0001583	missense	0			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.2209A>G	17.37:g.2196214T>C	ENSP00000263073:p.Arg737Gly		B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	pfam_EST1,smart_PIN_dom	p.R737G	ENST00000263073.6	37	c.2209	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	T	20.2	3.942768	0.73672	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.27557	1.66;1.66	5.26	4.16	0.48862	Telomerase activating protein Est1 (1);	0.000000	0.85682	D	0.000000	T	0.59032	0.2164	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64537	-0.6384	10	0.87932	D	0	-9.5928	11.8781	0.52558	0.0:0.0:0.4712:0.5288	.	737	Q86US8	EST1A_HUMAN	G	737;706	ENSP00000263073:R737G;ENSP00000443920:R706G	ENSP00000263073:R737G	R	-	1	2	SMG6	2142964	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	1.106000	0.31098	0.813000	0.34350	0.383000	0.25322	AGG	SMG6	-	pfam_EST1	ENSG00000070366		0.443	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3		0.00	32	0	T			2196214	-1			no_errors	ENST00000263073	ensembl	human	known	74_37	missense	5.06	75	4	SNP	1.000	C
SMOC1	64093	genome.wustl.edu	37	14	70477638	70477638	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:70477638C>T	ENST00000381280.4	+	8	1085	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	SMOC1_ENST00000361956.3_Missense_Mutation_p.R278C	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	278	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.		R -> C (in OAS). {ECO:0000269|PubMed:21750680}.		cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|eye development (GO:0001654)|limb development (GO:0060173)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of osteoblast differentiation (GO:0045667)|signal transduction (GO:0007165)	basement membrane (GO:0005604)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GGACACAGGGCGCCCGCTGCC	0.607																																																	0													51.0	52.0	52.0					14																	70477638		2203	4300	6503	SO:0001583	missense	0			AJ249900	CCDS9798.1, CCDS32110.1	14q24.1	2010-08-05			ENSG00000198732	ENSG00000198732			20318	protein-coding gene	gene with protein product		608488				12130637	Standard	NM_001034852		Approved		uc001xlt.2	Q9H4F8		ENST00000381280.4:c.832C>T	14.37:g.70477638C>T	ENSP00000370680:p.Arg278Cys		A8K1S3|B2R7P5|Q96F78	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.R278C	ENST00000381280.4	37	c.832	CCDS9798.1	14	.	.	.	.	.	.	.	.	.	.	C	35	5.428457	0.96131	.	.	ENSG00000198732	ENST00000361956;ENST00000381280	T;T	0.64803	-0.12;-0.12	5.6	5.6	0.85130	Thyroglobulin type-1 (4);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81602	0.4857	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.993;0.998	T	0.83025	-0.0165	10	0.87932	D	0	-22.0155	19.9627	0.97258	0.0:1.0:0.0:0.0	.	278;278	Q9H4F8-2;Q9H4F8	.;SMOC1_HUMAN	C	278	ENSP00000355110:R278C;ENSP00000370680:R278C	ENSP00000355110:R278C	R	+	1	0	SMOC1	69547391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.654000	0.61469	2.797000	0.96272	0.650000	0.86243	CGC	SMOC1	-	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	ENSG00000198732		0.607	SMOC1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMOC1	HGNC	protein_coding	OTTHUMT00000412467.1	-	0.00	60	0	C			70477638	+1	tier1	-	no_errors	ENST00000361956	ensembl	human	known	74_37	missense	45.45	30	25	SNP	1.000	T
SMYD1	150572	genome.wustl.edu	37	2	88367423	88367423	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:88367423G>A	ENST00000419482.2	+	1	125	c.40G>A	c.(40-42)Gct>Act	p.A14T	SMYD1_ENST00000444564.2_Missense_Mutation_p.A14T|SMYD1_ENST00000438570.1_Missense_Mutation_p.A14T	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	14	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGTCTTCACCGCTGAGGGCAA	0.517																																																	0													208.0	230.0	223.0					2																	88367423		2203	4300	6503	SO:0001583	missense	0			AF086123	CCDS33240.1	2p11.1	2011-07-01			ENSG00000115593	ENSG00000115593		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20986	protein-coding gene	gene with protein product		606846				11923873	Standard	NM_198274		Approved	BOP, ZMYND22, KMT3D	uc002ssr.3	Q8NB12	OTTHUMG00000155045	ENST00000419482.2:c.40G>A	2.37:g.88367423G>A	ENSP00000393453:p.Ala14Thr		A0AV30|A6NE13	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.A14T	ENST00000419482.2	37	c.40	CCDS33240.1	2	.	.	.	.	.	.	.	.	.	.	g	8.494	0.862597	0.17178	.	.	ENSG00000115593	ENST00000419482;ENST00000444564;ENST00000438570	T;T;T	0.12672	2.66;2.66;2.66	5.85	-0.78	0.10969	SET domain (1);	0.371252	0.31156	N	0.008156	T	0.03348	0.0097	N	0.02315	-0.6	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.40608	-0.9554	10	0.09590	T	0.72	-3.9829	4.4183	0.11468	0.1969:0.0609:0.4293:0.3128	.	14;14	Q8NB12;C9JUP3	SMYD1_HUMAN;.	T	14	ENSP00000393453:A14T;ENSP00000407888:A14T;ENSP00000387482:A14T	ENSP00000393453:A14T	A	+	1	0	SMYD1	88148538	0.015000	0.18098	0.011000	0.14972	0.660000	0.38997	0.059000	0.14322	-0.356000	0.08187	-1.068000	0.02270	GCT	SMYD1	-	smart_SET_dom	ENSG00000115593		0.517	SMYD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD1	HGNC	protein_coding	OTTHUMT00000338229.2	-	0.00	103	0	G	XM_097915		88367423	+1	tier1	-	no_errors	ENST00000419482	ensembl	human	known	74_37	missense	14.72	139	24	SNP	0.187	A
SND1	27044	genome.wustl.edu	37	7	127724828	127724828	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:127724828delC	ENST00000354725.3	+	19	2357	c.2163delC	c.(2161-2163)cacfs	p.H721fs	MIR593_ENST00000384856.1_RNA	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	721					gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TTGCCAGTCACCCCCCTGTAG	0.557																																																	0													93.0	81.0	85.0					7																	127724828		2203	4300	6503	SO:0001589	frameshift_variant	0				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.2163delC	7.37:g.127724828delC	ENSP00000346762:p.His721fs		Q13122|Q96AG0	Frame_Shift_Del	DEL	pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold	p.P723fs	ENST00000354725.3	37	c.2163	CCDS34747.1	7																																																																																			SND1	-	pfam_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN	ENSG00000197157		0.557	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1		0.00	44	0	C	NM_014390		127724828	+1	tier1		no_errors	ENST00000354725	ensembl	human	known	74_37	frame_shift_del	6.38	44	3	DEL	1.000	-
SOS2	6655	genome.wustl.edu	37	14	50597263	50597263	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr14:50597263G>A	ENST00000216373.5	-	20	3567	c.3293C>T	c.(3292-3294)tCa>tTa	p.S1098L	SOS2_ENST00000543680.1_Missense_Mutation_p.S1065L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	1098					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					ACTAAGGTCTGAAGAAGCAGA	0.403																																																	0													129.0	118.0	121.0					14																	50597263		2203	4300	6503	SO:0001583	missense	0			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.3293C>T	14.37:g.50597263G>A	ENSP00000216373:p.Ser1098Leu		B7ZKT6|D3DSB4|Q15503|Q17RN1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.S1098L	ENST00000216373.5	37	c.3293	CCDS9697.1	14	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113686	0.77210	.	.	ENSG00000100485	ENST00000216373;ENST00000543680	T;T	0.79653	-1.29;-1.15	5.62	5.62	0.85841	.	0.140353	0.48286	D	0.000181	T	0.78084	0.4228	L	0.57536	1.79	0.80722	D	1	P;P	0.41546	0.754;0.754	B;B	0.34489	0.184;0.184	T	0.80885	-0.1182	10	0.59425	D	0.04	.	19.6501	0.95796	0.0:0.0:1.0:0.0	.	1065;1098	B7ZKT6;Q07890	.;SOS2_HUMAN	L	1098;1065	ENSP00000216373:S1098L;ENSP00000445328:S1065L	ENSP00000216373:S1098L	S	-	2	0	SOS2	49667013	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.977000	0.93446	2.657000	0.90304	0.484000	0.47621	TCA	SOS2	-	NULL	ENSG00000100485		0.403	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	-	0.00	76	0	G			50597263	-1	tier1	-	no_errors	ENST00000216373	ensembl	human	known	74_37	missense	51.96	49	53	SNP	1.000	A
SPATA18	132671	genome.wustl.edu	37	4	52943092	52943092	+	Silent	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:52943092C>T	ENST00000295213.4	+	7	1280	c.906C>T	c.(904-906)ctC>ctT	p.L302L	SPATA18_ENST00000419395.2_Silent_p.L270L	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	302	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGGCTGCCCTCTTGTCCCGGT	0.647																																																	0													62.0	48.0	53.0					4																	52943092		2203	4300	6503	SO:0001819	synonymous_variant	0			BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.906C>T	4.37:g.52943092C>T			B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	NULL	p.L302	ENST00000295213.4	37	c.906	CCDS3489.1	4																																																																																			SPATA18	-	NULL	ENSG00000163071		0.647	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA18	HGNC	protein_coding	OTTHUMT00000250597.2	-	0.00	49	0	C	NM_145263		52943092	+1	tier1	-	no_errors	ENST00000295213	ensembl	human	known	74_37	silent	26.09	68	24	SNP	0.990	T
SPOCK2	9806	genome.wustl.edu	37	10	73827480	73827480	+	Silent	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:73827480G>A	ENST00000373109.2	-	7	1044	c.600C>T	c.(598-600)acC>acT	p.T200T	SPOCK2_ENST00000536168.1_Silent_p.T200T|SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Silent_p.T200T	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	200					extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGTCCTGACCGGTGCAAGTCT	0.607																																																	0													32.0	30.0	31.0					10																	73827480		2203	4300	6503	SO:0001819	synonymous_variant	0			AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.600C>T	10.37:g.73827480G>A			C9J767|Q6UW87	Silent	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.T200	ENST00000373109.2	37	c.600	CCDS7313.1	10																																																																																			SPOCK2	-	pfam_SPARC/Testican_Ca-bd-dom	ENSG00000107742		0.607	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK2	HGNC	protein_coding	OTTHUMT00000048560.2		0.00	27	0	G			73827480	-1			no_errors	ENST00000317376	ensembl	human	known	74_37	silent	8.00	23	2	SNP	0.000	A
SREBF2	6721	genome.wustl.edu	37	22	42274003	42274004	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	GT	GT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr22:42274003_42274004delGT	ENST00000361204.4	+	9	1803_1804	c.1637_1638delGT	c.(1636-1638)ggtfs	p.G546fs		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	546					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CTGGTAAATGGTGTGATTGTCC	0.554																																																	0																																										SO:0001589	frameshift_variant	0			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1637_1638delGT	22.37:g.42274005_42274006delGT	ENSP00000354476:p.Gly546fs		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Frame_Shift_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.V547fs	ENST00000361204.4	37	c.1637_1638	CCDS14023.1	22																																																																																			SREBF2	-	NULL	ENSG00000198911		0.554	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF2	HGNC	protein_coding	OTTHUMT00000321956.1		0.00	51	0	GT	NM_004599		42274004	+1	tier1		no_errors	ENST00000361204	ensembl	human	known	74_37	frame_shift_del	16.92	54	11	DEL	1.000:0.017	-
SSPO	23145	genome.wustl.edu	37	7	149511902	149511902	+	RNA	SNP	C	C	A	rs62492762	byFrequency	TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr7:149511902C>A	ENST00000378016.2	+	0	10452							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTCTCCCTGCGACATGTGCT	0.701																																																	0													7.0	9.0	8.0					7																	149511902		1973	4092	6065			0			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149511902C>A			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-	ENSG00000197558		0.701	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		-	0.00	43	0	C			149511902	+1	tier1	-	no_errors	ENST00000378016	ensembl	human	known	74_37	rna	39.53	26	17	SNP	0.841	A
STAB2	55576	genome.wustl.edu	37	12	104136291	104136291	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:104136291G>T	ENST00000388887.2	+	56	6194	c.5990G>T	c.(5989-5991)tGt>tTt	p.C1997F		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGGACGGCGTGTGAGATGTGC	0.577																																																	0													188.0	170.0	176.0					12																	104136291		2203	4300	6503	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.5990G>T	12.37:g.104136291G>T	ENSP00000373539:p.Cys1997Phe			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.C1997F	ENST00000388887.2	37	c.5990	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374829	0.82573	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.88586	-2.4	5.05	5.05	0.67936	EGF-like, laminin (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97620	0.9220	H	0.99887	4.895	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99867	1.1091	10	0.72032	D	0.01	.	18.4222	0.90595	0.0:0.0:1.0:0.0	.	1997	Q8WWQ8	STAB2_HUMAN	F	1997;684	ENSP00000373539:C1997F	ENSP00000258495:C684F	C	+	2	0	STAB2	102660421	1.000000	0.71417	0.863000	0.33907	0.832000	0.47134	8.916000	0.92745	2.303000	0.77524	0.563000	0.77884	TGT	STAB2	-	smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom	ENSG00000136011		0.577	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	-	0.00	34	0	G			104136291	+1	tier1	-	no_errors	ENST00000388887	ensembl	human	known	74_37	missense	6.10	77	5	SNP	1.000	T
SYTL2	54843	genome.wustl.edu	37	11	85445485	85445485	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr11:85445485G>T	ENST00000528231.1	-	6	1161	c.884C>A	c.(883-885)cCc>cAc	p.P295H	SYTL2_ENST00000524452.1_Missense_Mutation_p.P295H|SYTL2_ENST00000527523.1_Missense_Mutation_p.P247H|SYTL2_ENST00000316356.4_Missense_Mutation_p.P296H|SYTL2_ENST00000389960.4_Missense_Mutation_p.P295H	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	295					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)		TTTGCTTTTGGGTTCAAAGTT	0.483																																																	0													172.0	174.0	173.0					11																	85445485		2203	4299	6502	SO:0001583	missense	0			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.884C>A	11.37:g.85445485G>T	ENSP00000431701:p.Pro295His		B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ	p.P296H	ENST00000528231.1	37	c.887	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296586	0.60086	.	.	ENSG00000137501	ENST00000389960;ENST00000316356;ENST00000528231;ENST00000527523;ENST00000524452	T;T;T;T;T	0.28069	1.72;1.75;1.73;1.63;1.72	6.06	5.13	0.70059	.	.	.	.	.	T	0.45094	0.1325	L	0.57536	1.79	0.52501	D	0.999958	D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;1.0	D;D;P;D;D	0.65573	0.936;0.936;0.907;0.936;0.936	T	0.39623	-0.9605	8	.	.	.	.	7.1802	0.25768	0.1356:0.0:0.7185:0.1459	.	247;295;295;296;153	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15	.;.;SYTL2_HUMAN;.;.	H	295;296;295;247;295	ENSP00000374610:P295H;ENSP00000318803:P296H;ENSP00000431701:P295H;ENSP00000434010:P247H;ENSP00000435238:P295H	.	P	-	2	0	SYTL2	85123133	0.877000	0.30153	0.965000	0.40720	0.971000	0.66376	1.305000	0.33493	1.509000	0.48786	0.650000	0.86243	CCC	SYTL2	-	NULL	ENSG00000137501		0.483	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	-	0.00	38	0	G	NM_206927		85445485	-1	tier1	-	no_errors	ENST00000316356	ensembl	human	known	74_37	missense	8.16	45	4	SNP	0.747	T
TAB2	23118	genome.wustl.edu	37	6	149699917	149699917	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr6:149699917C>T	ENST00000367456.1	+	4	1443	c.866C>T	c.(865-867)tCa>tTa	p.S289L	TAB2_ENST00000536230.1_Missense_Mutation_p.S257L|TAB2_ENST00000538427.1_Missense_Mutation_p.S289L|TAB2_ENST00000286332.5_Missense_Mutation_p.S289L|TAB2_ENST00000392282.1_Missense_Mutation_p.S289L			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	289					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CCAATCAGTTCACCTACTACT	0.448																																																	0													170.0	148.0	155.0					6																	149699917		2203	4300	6503	SO:0001583	missense	0			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.866C>T	6.37:g.149699917C>T	ENSP00000356426:p.Ser289Leu		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.S289L	ENST00000367456.1	37	c.866	CCDS5214.1	6	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750439	0.49257	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.76839	-1.05;-1.05;-1.04;-1.04;-1.04	6.03	6.03	0.97812	.	0.056827	0.64402	D	0.000001	T	0.79776	0.4504	N	0.24115	0.695	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76071	0.987;0.987	T	0.81762	-0.0784	10	0.72032	D	0.01	-2.8777	20.5753	0.99366	0.0:1.0:0.0:0.0	.	257;289	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	L	257;289;289;289;289	ENSP00000443206:S257L;ENSP00000376106:S289L;ENSP00000445752:S289L;ENSP00000356426:S289L;ENSP00000286332:S289L	ENSP00000286332:S289L	S	+	2	0	TAB2	149741610	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	7.294000	0.78760	2.868000	0.98415	0.557000	0.71058	TCA	TAB2	-	NULL	ENSG00000055208		0.448	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB2	HGNC	protein_coding	OTTHUMT00000042633.3		0.00	38	0	C			149699917	+1			no_errors	ENST00000286332	ensembl	human	known	74_37	missense	5.00	95	5	SNP	1.000	T
TADA2A	6871	genome.wustl.edu	37	17	35830506	35830506	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:35830506G>T	ENST00000394395.2	+	13	1071	c.898G>T	c.(898-900)Gcc>Tcc	p.A300S	TADA2A_ENST00000225396.6_Missense_Mutation_p.A300S|TADA2A_ENST00000591992.1_3'UTR	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	300					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ACCCCCAGGTGCCAGAACCTA	0.468																																																	0													113.0	109.0	111.0					17																	35830506		2203	4300	6503	SO:0001583	missense	0			AK022767	CCDS11319.1, CCDS45656.1	17q12-q21	2014-04-10	2009-10-02	2009-10-02	ENSG00000108264	ENSG00000276234			11531	protein-coding gene	gene with protein product		602276	"""transcriptional adaptor 2 (ADA2 homolog, yeast)-like"""	TADA2L		8552087	Standard	XM_006722043		Approved	ADA2, hADA2, ADA2A	uc002hnt.3	O75478	OTTHUMG00000188469	ENST00000394395.2:c.898G>T	17.37:g.35830506G>T	ENSP00000377918:p.Ala300Ser		A8MVD0|B3KMU9|Q9BVJ0|Q9UCW2|Q9UP49	Missense_Mutation	SNP	pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom	p.A300S	ENST00000394395.2	37	c.898	CCDS11319.1	17	.	.	.	.	.	.	.	.	.	.	G	28.8	4.955642	0.92726	.	.	ENSG00000108264	ENST00000394395;ENST00000428846;ENST00000225396	T;T	0.50277	0.75;0.75	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.61627	0.2362	L	0.52573	1.65	0.80722	D	1	D	0.67145	0.996	P	0.61070	0.883	T	0.56105	-0.8034	10	0.34782	T	0.22	-12.2535	19.6383	0.95746	0.0:0.0:1.0:0.0	.	300	O75478	TAD2A_HUMAN	S	300;199;300	ENSP00000377918:A300S;ENSP00000225396:A300S	ENSP00000225396:A300S	A	+	1	0	TADA2A	32904619	1.000000	0.71417	1.000000	0.80357	0.756000	0.42949	9.459000	0.97638	2.631000	0.89168	0.655000	0.94253	GCC	TADA2A	-	pirsf_Transcriptional_adaptor_2	ENSG00000108264		0.468	TADA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2A	HGNC	protein_coding	OTTHUMT00000256677.3	-	0.00	42	0	G	NM_001488		35830506	+1	tier1	-	no_errors	ENST00000225396	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	T
TAF1L	138474	genome.wustl.edu	37	9	32631847	32631847	+	Missense_Mutation	SNP	C	C	T	rs371427336		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:32631847C>T	ENST00000242310.4	-	1	3820	c.3731G>A	c.(3730-3732)cGg>cAg	p.R1244Q	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1244					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.R1244Q(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTGAATCCTCCGCCGTTCTTT	0.458																																																	1	Substitution - Missense(1)	kidney(1)						C	GLN/ARG	0,4406		0,0,2203	94.0	92.0	93.0		3731	-0.1	0.9	9		93	1,8599	1.2+/-3.3	0,1,4299	no	missense	TAF1L	NM_153809.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1244/1827	32631847	1,13005	2203	4300	6503	SO:0001583	missense	0			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3731G>A	9.37:g.32631847C>T	ENSP00000418379:p.Arg1244Gln		Q0VG57	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.R1244Q	ENST00000242310.4	37	c.3731	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259516	0.59321	0.0	1.16E-4	ENSG00000122728	ENST00000242310	T	0.09630	2.96	1.04	-0.0542	0.13815	.	0.000000	0.85682	D	0.000000	T	0.19127	0.0459	L	0.52573	1.65	0.48762	D	0.999701	D	0.89917	1.0	D	0.73380	0.98	T	0.02813	-1.1107	10	0.72032	D	0.01	.	4.9434	0.13976	0.0:0.7269:0.0:0.2731	.	1244	Q8IZX4	TAF1L_HUMAN	Q	1244	ENSP00000418379:R1244Q	ENSP00000418379:R1244Q	R	-	2	0	TAF1L	32621847	1.000000	0.71417	0.933000	0.37362	0.233000	0.25261	4.926000	0.63433	0.507000	0.28148	0.195000	0.17529	CGG	TAF1L	-	pirsf_TAF1_animal	ENSG00000122728		0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	-	0.00	45	0	C			32631847	-1	tier1	-	no_errors	ENST00000242310	ensembl	human	known	74_37	missense	67.50	26	54	SNP	1.000	T
TAMM41	132001	genome.wustl.edu	37	3	11888004	11888004	+	Missense_Mutation	SNP	C	C	T	rs539517679		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:11888004C>T	ENST00000444133.2	-	1	249	c.107G>A	c.(106-108)cGc>cAc	p.R36H	TAMM41_ENST00000273037.5_Missense_Mutation_p.R36H|TAMM41_ENST00000455809.1_Missense_Mutation_p.R36H			Q96BW9	TAM41_HUMAN	TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)	36					cardiolipin biosynthetic process (GO:0032049)|CDP-diacylglycerol biosynthetic process (GO:0016024)	extrinsic component of mitochondrial inner membrane (GO:0031314)	phosphatidate cytidylyltransferase activity (GO:0004605)										CCCTGCCTGGCGGTACACCCC	0.627																																																	0													65.0	63.0	64.0					3																	11888004		2203	4300	6503	SO:0001583	missense	0				CCDS2607.1, CCDS68345.1	3p25.2	2013-10-18	2011-08-09	2011-08-09	ENSG00000144559	ENSG00000144559			25187	protein-coding gene	gene with protein product		614948	"""chromosome 3 open reading frame 31"""	C3orf31		19237595	Standard	XM_005264873		Approved	MGC16471, DKFZp434E0519	uc003bwh.3	Q96BW9	OTTHUMG00000129741	ENST00000444133.2:c.107G>A	3.37:g.11888004C>T	ENSP00000388598:p.Arg36His		B4DIY7|C9J2U4	Missense_Mutation	SNP	pfam_Mmp37,pirsf_Mmp37	p.R36H	ENST00000444133.2	37	c.107		3	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889314	0.52014	.	.	ENSG00000144559	ENST00000455809;ENST00000273037;ENST00000444133	T;T;T	0.31247	1.5;1.5;1.5	4.71	4.71	0.59529	.	0.152272	0.45867	D	0.000333	T	0.23688	0.0573	L	0.37750	1.13	0.49915	D	0.999831	P;P;B	0.50528	0.936;0.465;0.211	B;B;B	0.39379	0.298;0.066;0.028	T	0.02546	-1.1143	10	0.41790	T	0.15	-44.8462	13.039	0.58889	0.0:1.0:0.0:0.0	.	36;36;36	B4DIY7;C9J2U4;Q96BW9	.;.;TAM41_HUMAN	H	36	ENSP00000398596:R36H;ENSP00000273037:R36H;ENSP00000388598:R36H	ENSP00000273037:R36H	R	-	2	0	TAMM41	11863004	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	1.407000	0.34657	2.445000	0.82738	0.467000	0.42956	CGC	TAMM41	-	pfam_Mmp37,pirsf_Mmp37	ENSG00000144559		0.627	TAMM41-008	PUTATIVE	basic	protein_coding	TAMM41	HGNC	protein_coding	OTTHUMT00000339258.2		0.00	90	0	C	NM_138807		11888004	-1			no_errors	ENST00000273037	ensembl	human	known	74_37	missense	5.33	71	4	SNP	1.000	T
TANK	10010	genome.wustl.edu	37	2	162087649	162087649	+	Missense_Mutation	SNP	T	T	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:162087649T>A	ENST00000392749.2	+	7	927	c.688T>A	c.(688-690)Tct>Act	p.S230T	TANK_ENST00000406287.1_Intron|AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000259075.2_Missense_Mutation_p.S230T|TANK_ENST00000405852.1_Missense_Mutation_p.S230T|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000402568.1_Intron	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	230					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						TGAATCACTTTCTAAATTCAA	0.448																																																	0													127.0	122.0	124.0					2																	162087649		2203	4300	6503	SO:0001583	missense	0			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.688T>A	2.37:g.162087649T>A	ENSP00000376505:p.Ser230Thr		D3DPB5|Q7Z4J6|Q92885	Missense_Mutation	SNP	NULL	p.S230T	ENST00000392749.2	37	c.688	CCDS2215.1	2	.	.	.	.	.	.	.	.	.	.	T	18.44	3.624973	0.66901	.	.	ENSG00000136560	ENST00000259075;ENST00000392749;ENST00000405852;ENST00000437623	T;T;T;T	0.38887	1.74;1.74;1.13;1.11	5.78	5.78	0.91487	.	0.234286	0.45361	D	0.000372	T	0.62636	0.2444	M	0.63843	1.955	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.65005	-0.6273	10	0.72032	D	0.01	-13.4882	16.4053	0.83662	0.0:0.0:0.0:1.0	.	230	Q92844	TANK_HUMAN	T	230;230;230;121	ENSP00000259075:S230T;ENSP00000376505:S230T;ENSP00000385487:S230T;ENSP00000412556:S121T	ENSP00000259075:S230T	S	+	1	0	TANK	161795895	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.528000	0.60580	2.333000	0.79357	0.482000	0.46254	TCT	TANK	-	NULL	ENSG00000136560		0.448	TANK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TANK	HGNC	protein_coding	OTTHUMT00000324232.1		0.00	31	0	T	NM_133484		162087649	+1			no_errors	ENST00000259075	ensembl	human	known	74_37	missense	13.79	25	4	SNP	1.000	A
TCHH	7062	genome.wustl.edu	37	1	152084702	152084702	+	Missense_Mutation	SNP	G	G	C	rs201930497		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:152084702G>C	ENST00000368804.1	-	2	990	c.991C>G	c.(991-993)Cag>Gag	p.Q331E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	331	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctctcctcctgctgctcgcgc	0.697																																																	0													14.0	18.0	17.0					1																	152084702		2057	4164	6221	SO:0001583	missense	0			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.991C>G	1.37:g.152084702G>C	ENSP00000357794:p.Gln331Glu		Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom	p.Q331E	ENST00000368804.1	37	c.991	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	N	7.384	0.629306	0.14257	.	.	ENSG00000159450	ENST00000368804	T	0.05855	3.38	3.12	-0.0129	0.13986	.	.	.	.	.	T	0.00608	0.0020	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.47032	-0.9148	9	0.02654	T	1	.	4.1111	0.10060	0.0:0.3633:0.3959:0.2408	.	331	Q07283	TRHY_HUMAN	E	331	ENSP00000357794:Q331E	ENSP00000357794:Q331E	Q	-	1	0	TCHH	150351326	0.000000	0.05858	0.007000	0.13788	0.171000	0.22731	-3.309000	0.00517	-0.206000	0.10203	-0.292000	0.09595	CAG	TCHH	-	NULL	ENSG00000159450		0.697	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2		0.00	43	0	G	NM_007113		152084702	-1			no_errors	ENST00000368804	ensembl	human	known	74_37	missense	6.60	183	13	SNP	0.077	C
TBX19	9095	genome.wustl.edu	37	1	168283550	168283550	+	3'UTR	SNP	A	A	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr1:168283550A>G	ENST00000367821.3	+	0	2708				TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19						anatomical structure morphogenesis (GO:0009653)|cell fate commitment (GO:0045165)|pituitary gland development (GO:0021983)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell differentiation (GO:0045595)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					gtctctccctattagactgta	0.478																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ010277	CCDS1272.1	1q23-q24	2008-02-05			ENSG00000143178	ENSG00000143178		"""T-boxes"""	11596	protein-coding gene	gene with protein product	"""TBS 19"""	604614				9888994	Standard	NM_005149		Approved	dj747L4.1, TPIT	uc001gfl.3	O60806	OTTHUMG00000034648	ENST00000367821.3:c.*1310A>G	1.37:g.168283550A>G			Q52M53	RNA	SNP	-	NULL	ENST00000367821.3	37	NULL	CCDS1272.1	1																																																																																			TBX19	-	-	ENSG00000143178		0.478	TBX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX19	HGNC	protein_coding	OTTHUMT00000083825.1	-	0.00	45	0	A	NM_005149		168283550	+1	tier1	-	no_errors	ENST00000465440	ensembl	human	known	74_37	rna	84.82	17	95	SNP	0.000	G
TGIF2LX	90316	genome.wustl.edu	37	X	89177504	89177504	+	Silent	SNP	G	G	A	rs371679488		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:89177504G>A	ENST00000561129.2	+	1	550	c.420G>A	c.(418-420)gcG>gcA	p.A140A	TGIF2LX_ENST00000283891.5_Silent_p.A140A			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A140A(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GCACCGAGGCGTCTGTGCCGG	0.582																																																	1	Substitution - coding silent(1)	endometrium(1)						G		0,3835		0,0,0,1632,571	54.0	53.0	53.0		420	-3.1	0.0	X		53	1,6727		0,0,1,2428,1871	no	coding-synonymous	TGIF2LX	NM_138960.3		0,0,1,4060,2442	AA,AG,A,GG,G		0.0149,0.0,0.0095		140/242	89177504	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	0			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.420G>A	X.37:g.89177504G>A			Q5JRM9|Q8TD48	Silent	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.A140	ENST00000561129.2	37	c.420	CCDS14459.1	X																																																																																			TGIF2LX	-	NULL	ENSG00000153779		0.582	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2LX	HGNC	protein_coding	OTTHUMT00000417911.2	-	0.00	45	0	G	NM_138960		89177504	+1	tier1	-	no_errors	ENST00000283891	ensembl	human	known	74_37	silent	54.17	11	13	SNP	0.000	A
TLE6	79816	genome.wustl.edu	37	19	2987131	2987131	+	Silent	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:2987131C>T	ENST00000246112.4	+	7	637	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	TLE6_ENST00000452088.1_Silent_p.L23L|TLE6_ENST00000478073.2_3'UTR	NM_001143986.1	NP_001137458.1	Q9H808	TLE6_HUMAN	transducin-like enhancer of split 6	146					regulation of transcription, DNA-templated (GO:0006355)	cell cortex (GO:0005938)|nucleus (GO:0005634)|protein complex (GO:0043234)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGACCCAGCTGTTCTGGGA	0.602																																																	0													76.0	73.0	74.0					19																	2987131		2203	4300	6503	SO:0001819	synonymous_variant	0			AK024071	CCDS12100.1, CCDS45910.1	19p13.3	2014-03-07	2014-03-07		ENSG00000104953	ENSG00000104953		"""WD repeat domain containing"""	30788	protein-coding gene	gene with protein product		612399	"""transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila)"""			11486032	Standard	NM_024760		Approved	FLJ14009, GRG6	uc002lwt.2	Q9H808	OTTHUMG00000156793	ENST00000246112.4:c.436C>T	19.37:g.2987131C>T			J3KMZ1	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.L146	ENST00000246112.4	37	c.436	CCDS45910.1	19																																																																																			TLE6	-	NULL	ENSG00000104953		0.602	TLE6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TLE6	HGNC	protein_coding	OTTHUMT00000345996.3		0.00	43	0	C	NM_024760		2987131	+1			no_errors	ENST00000246112	ensembl	human	known	74_37	silent	6.67	70	5	SNP	0.000	T
TMEM117	84216	genome.wustl.edu	37	12	44605125	44605125	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:44605125C>T	ENST00000266534.3	+	5	690	c.563C>T	c.(562-564)gCa>gTa	p.A188V	TMEM117_ENST00000536799.1_Missense_Mutation_p.A84V|TMEM117_ENST00000551577.1_Missense_Mutation_p.A188V	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	188						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GGAAAATCAGCAAGAGCTTTC	0.378																																																	0													111.0	111.0	111.0					12																	44605125		2203	4300	6503	SO:0001583	missense	0			BC060798	CCDS8745.1, CCDS73462.1	12q12	2006-02-03				ENSG00000139173			25308	protein-coding gene	gene with protein product						11230166	Standard	NM_001286211		Approved	DKFZp434K2435	uc001rod.3	Q9H0C3	OTTHUMG00000169427	ENST00000266534.3:c.563C>T	12.37:g.44605125C>T	ENSP00000266534:p.Ala188Val			Missense_Mutation	SNP	NULL	p.A188V	ENST00000266534.3	37	c.563	CCDS8745.1	12	.	.	.	.	.	.	.	.	.	.	C	11.25	1.583377	0.28268	.	.	ENSG00000139173	ENST00000551577;ENST00000266534;ENST00000536799	T;T;T	0.39997	1.05;1.05;1.05	5.92	5.92	0.95590	.	0.099149	0.64402	D	0.000002	T	0.51415	0.1673	L	0.34521	1.04	0.53688	D	0.999977	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.77557	0.971;0.99;0.986	T	0.28106	-1.0054	10	0.02654	T	1	-18.3143	20.3206	0.98668	0.0:1.0:0.0:0.0	.	188;84;188	F8VS00;F5H3Q2;Q9H0C3	.;.;TM117_HUMAN	V	188;188;84	ENSP00000448595:A188V;ENSP00000266534:A188V;ENSP00000445243:A84V	ENSP00000266534:A188V	A	+	2	0	TMEM117	42891392	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	6.697000	0.74603	2.809000	0.96659	0.655000	0.94253	GCA	TMEM117	-	NULL	ENSG00000139173		0.378	TMEM117-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM117	HGNC	protein_coding	OTTHUMT00000403969.1	-	0.00	58	0	C	NM_032256		44605125	+1	tier1	-	no_errors	ENST00000266534	ensembl	human	known	74_37	missense	36.11	46	26	SNP	1.000	T
TMEM132C	92293	genome.wustl.edu	37	12	129028603	129028603	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:129028603C>T	ENST00000435159.2	+	3	1076	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M	TMEM132C_ENST00000315208.8_5'UTR	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	359						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						AAGCACGTGACGGCCACCGTG	0.697																																																	0													23.0	35.0	31.0					12																	129028603		692	1591	2283	SO:0001583	missense	0			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.1076C>T	12.37:g.129028603C>T	ENSP00000410852:p.Thr359Met		Q69YX8	Missense_Mutation	SNP	NULL	p.T359M	ENST00000435159.2	37	c.1076		12	.	.	.	.	.	.	.	.	.	.	C	18.52	3.641933	0.67244	.	.	ENSG00000181234	ENST00000435159	T	0.14022	2.54	4.71	4.71	0.59529	.	.	.	.	.	T	0.36166	0.0957	M	0.67700	2.07	0.46725	D	0.999176	D	0.89917	1.0	D	0.68621	0.959	T	0.15235	-1.0444	9	0.66056	D	0.02	.	17.6508	0.88163	0.0:1.0:0.0:0.0	.	359	Q8N3T6	T132C_HUMAN	M	359	ENSP00000410852:T359M	ENSP00000410852:T359M	T	+	2	0	TMEM132C	127594556	0.863000	0.29885	0.044000	0.18714	0.718000	0.41266	3.091000	0.50199	2.316000	0.78162	0.655000	0.94253	ACG	TMEM132C	-	NULL	ENSG00000181234		0.697	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		-	0.00	29	0	C	XM_044062		129028603	+1	tier1	-	no_errors	ENST00000435159	ensembl	human	known	74_37	missense	36.73	93	54	SNP	0.977	T
TMEM155	132332	genome.wustl.edu	37	4	122682832	122682832	+	Nonsense_Mutation	SNP	C	C	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr4:122682832C>A	ENST00000337677.5	-	5	631	c.73G>T	c.(73-75)Gaa>Taa	p.E25*	TMEM155_ENST00000394394.1_Nonsense_Mutation_p.E25*|AC079341.1_ENST00000424958.1_5'Flank|TMEM155_ENST00000394396.1_Nonsense_Mutation_p.E25*	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	25						extracellular region (GO:0005576)		p.E25*(1)		breast(1)|lung(5)	6						GGCATCAGTTCTGCATCTACA	0.413																																																	1	Substitution - Nonsense(1)	lung(1)											73.0	73.0	73.0					4																	122682832		2203	4300	6503	SO:0001587	stop_gained	0			AK055396	CCDS3721.1	4q27	2008-02-05			ENSG00000164112	ENSG00000164112			26418	protein-coding gene	gene with protein product							Standard	NM_152399		Approved	FLJ30834	uc003idx.1	Q4W5P6	OTTHUMG00000133035	ENST00000337677.5:c.73G>T	4.37:g.122682832C>A	ENSP00000336987:p.Glu25*		D3DNW9|Q96NI2	Nonsense_Mutation	SNP	NULL	p.E25*	ENST00000337677.5	37	c.73	CCDS3721.1	4	.	.	.	.	.	.	.	.	.	.	C	36	5.881532	0.97062	.	.	ENSG00000164112	ENST00000394396;ENST00000337677;ENST00000394394;ENST00000514885	.	.	.	5.63	4.77	0.60923	.	0.370695	0.19687	N	0.108374	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	0.206	11.0976	0.48155	0.0:0.9105:0.0:0.0895	.	.	.	.	X	25	.	ENSP00000336987:E25X	E	-	1	0	TMEM155	122902282	0.998000	0.40836	0.622000	0.29159	0.991000	0.79684	1.969000	0.40510	2.824000	0.97209	0.655000	0.94253	GAA	TMEM155	-	NULL	ENSG00000164112		0.413	TMEM155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM155	HGNC	protein_coding	OTTHUMT00000256637.2		0.00	31	0	C	NM_152399		122682832	-1			no_errors	ENST00000337677	ensembl	human	known	74_37	nonsense	6.06	31	2	SNP	0.593	A
TNRC6A	27327	genome.wustl.edu	37	16	24818001	24818001	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr16:24818001A>G	ENST00000395799.3	+	17	4565	c.4436A>G	c.(4435-4437)cAt>cGt	p.H1479R	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.H1430R|TNRC6A_ENST00000432286.2_5'Flank	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1479					cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAGCCACTCCATCAGCCAGCC	0.493																																																	0													135.0	115.0	122.0					16																	24818001		2197	4300	6497	SO:0001583	missense	0			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.4436A>G	16.37:g.24818001A>G	ENSP00000379144:p.His1479Arg		C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.H1479R	ENST00000395799.3	37	c.4436	CCDS10624.2	16	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300371	0.81136	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.14022	2.56;2.54	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.38585	0.1046	M	0.73962	2.25	0.80722	D	1	D;D;D;D	0.89917	0.983;1.0;0.978;0.993	P;D;P;D	0.85130	0.756;0.997;0.796;0.977	T	0.05733	-1.0867	10	0.33940	T	0.23	-9.1556	16.6154	0.84909	1.0:0.0:0.0:0.0	.	146;618;1430;1479	B3KSX2;C9JA83;Q8NDV7-6;Q8NDV7	.;.;.;TNR6A_HUMAN	R	1430;1479	ENSP00000326900:H1430R;ENSP00000379144:H1479R	ENSP00000326900:H1430R	H	+	2	0	TNRC6A	24725502	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.364000	0.73086	2.315000	0.78130	0.533000	0.62120	CAT	TNRC6A	-	NULL	ENSG00000090905		0.493	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	-	0.00	64	0	A	NM_020847		24818001	+1	tier1	-	no_errors	ENST00000395799	ensembl	human	known	74_37	missense	47.37	60	54	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R248Q	ENST00000269305.4	37	c.743	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	-	0.00	40	0	C	NM_000546		7577538	-1	tier1	rs11540652	no_errors	ENST00000269305	ensembl	human	known	74_37	missense	79.66	24	94	SNP	1.000	T
TOP2A	7153	genome.wustl.edu	37	17	38569797	38569797	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:38569797G>T	ENST00000423485.1	-	5	571	c.413C>A	c.(412-414)cCa>cAa	p.P138Q		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	138					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TATGAGAGCTGGGACATACAT	0.323																																																	0													82.0	75.0	77.0					17																	38569797		1474	3278	4752	SO:0001583	missense	0				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.413C>A	17.37:g.38569797G>T	ENSP00000411532:p.Pro138Gln		B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Missense_Mutation	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.P138Q	ENST00000423485.1	37	c.413	CCDS45672.1	17	.	.	.	.	.	.	.	.	.	.	g	16.26	3.073716	0.55646	.	.	ENSG00000131747	ENST00000423485;ENST00000269577;ENST00000348049;ENST00000357601	T	0.26660	1.72	5.75	4.79	0.61399	ATPase-like, ATP-binding domain (4);DNA topoisomerase, type IIA, subunit B/N-terminal (1);	0.109027	0.64402	D	0.000005	T	0.67896	0.2942	H	0.98629	4.285	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82096	-0.0626	10	0.87932	D	0	.	15.0798	0.72106	0.0681:0.0:0.9319:0.0	.	138	P11388	TOP2A_HUMAN	Q	138;137;137;138	ENSP00000411532:P138Q	ENSP00000269577:P137Q	P	-	2	0	TOP2A	35823323	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	7.976000	0.88070	1.458000	0.47871	-0.196000	0.12772	CCA	TOP2A	-	pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_Topo_IIA	ENSG00000131747		0.323	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	-	0.00	98	0	G			38569797	-1	tier1	-	no_errors	ENST00000423485	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
TRIM43	129868	genome.wustl.edu	37	2	96265165	96265165	+	Silent	SNP	C	C	T	rs200456827		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:96265165C>T	ENST00000272395.2	+	7	1321	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	395	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						TTCCTCACTACATAGAGAAAC	0.418																																																	0													1.0	1.0	1.0					2																	96265165		500	1208	1708	SO:0001819	synonymous_variant	0			BK000505	CCDS2015.1	2q11	2014-02-17	2011-01-25		ENSG00000144015	ENSG00000144015		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19015	protein-coding gene	gene with protein product			"""tripartite motif-containing 43"""				Standard	NM_138800		Approved	TRIM43A	uc002suv.3	Q96BQ3	OTTHUMG00000130401	ENST00000272395.2:c.1185C>T	2.37:g.96265165C>T			Q53TJ7	Silent	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.Y395	ENST00000272395.2	37	c.1185	CCDS2015.1	2																																																																																			TRIM43	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000144015		0.418	TRIM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM43	HGNC	protein_coding	OTTHUMT00000252784.1	-	0.00	13	0	C	NM_138800		96265165	+1	tier1	rs200456827	no_errors	ENST00000272395	ensembl	human	known	74_37	silent	24.44	34	11	SNP	0.000	T
METTL21B	25895	genome.wustl.edu	37	12	58176601	58176601	+	IGR	SNP	C	C	T	rs372337739		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr12:58176601C>T	ENST00000300209.8	+	0	2563				TSFM_ENST00000548851.1_Missense_Mutation_p.S6L|TSFM_ENST00000543727.1_Missense_Mutation_p.S6L|TSFM_ENST00000323833.8_Missense_Mutation_p.S6L|TSFM_ENST00000550559.1_Missense_Mutation_p.S6L|RP11-571M6.15_ENST00000553083.1_Intron|TSFM_ENST00000350762.5_5'UTR|TSFM_ENST00000454289.3_Missense_Mutation_p.S6L|RP11-571M6.15_ENST00000471530.1_Intron|TSFM_ENST00000540550.1_Missense_Mutation_p.S6L	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						CTGCTGCGGTCGCTGCGCGTG	0.652											OREG0021954	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								C	LEU/SER,LEU/SER,LEU/SER,LEU/SER	0,4404		0,0,2202	35.0	32.0	33.0		17,17,17,17	5.0	0.1	12		33	1,8575		0,1,4287	no	missense,missense,missense,missense	TSFM	NM_001172695.1,NM_001172696.1,NM_001172697.1,NM_005726.5	145,145,145,145	0,1,6489	TT,TC,CC		0.0117,0.0,0.0077	benign,benign,benign,benign	6/168,6/347,6/216,6/326	58176601	1,12979	2202	4288	6490	SO:0001628	intergenic_variant	0			AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58176601C>T		1028	Q9H749|Q9Y3W2	Missense_Mutation	SNP	pfam_Transl_elong_EFTs/EF1B_dimer,pfam_UBA/Ts_N,superfamily_Transl_elong_EFTs/EF1B_dimer,superfamily_UBA-like	p.S6L	ENST00000300209.8	37	c.17	CCDS8957.1	12	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166078	0.38217	0.0	1.17E-4	ENSG00000123297	ENST00000454289;ENST00000543727;ENST00000540550;ENST00000323833;ENST00000550559;ENST00000548851	.	.	.	4.99	4.99	0.66335	.	0.803958	0.11438	N	0.564111	T	0.40094	0.1103	L	0.29908	0.895	0.80722	D	1	P;B;P	0.40083	0.702;0.382;0.593	B;B;B	0.32149	0.141;0.037;0.063	T	0.39781	-0.9597	9	0.52906	T	0.07	.	13.6139	0.62097	0.0:1.0:0.0:0.0	.	6;6;6	B4E391;P43897;P43897-2	.;EFTS_HUMAN;.	L	6	.	ENSP00000313877:S6L	S	+	2	0	TSFM	56462868	0.043000	0.20138	0.073000	0.20177	0.014000	0.08584	1.897000	0.39799	2.589000	0.87451	0.462000	0.41574	TCG	TSFM	-	NULL	ENSG00000123297		0.652	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSFM	HGNC	protein_coding	OTTHUMT00000409268.1	-	0.00	49	0	C	NM_015433		58176601	+1	tier1	-	no_errors	ENST00000323833	ensembl	human	known	74_37	missense	48.08	54	50	SNP	0.175	T
TUBA8	51807	genome.wustl.edu	37	22	18613614	18613614	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr22:18613614G>A	ENST00000330423.3	+	5	1134	c.1061G>A	c.(1060-1062)gGc>gAc	p.G354D	TUBA8_ENST00000316027.6_Missense_Mutation_p.G288D	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	354					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CCTCAGGTGGGCATCAACTAC	0.607																																																	0													35.0	38.0	37.0					22																	18613614		2203	4298	6501	SO:0001583	missense	0			AJ245922	CCDS13751.1, CCDS54495.1	22q11	2005-06-11			ENSG00000183785	ENSG00000183785		"""Tubulins"""	12410	protein-coding gene	gene with protein product		605742		TUBAL2		10772959, 10591208	Standard	NM_001193414		Approved		uc002znv.2	Q9NY65	OTTHUMG00000150097	ENST00000330423.3:c.1061G>A	22.37:g.18613614G>A	ENSP00000333326:p.Gly354Asp		B2RCX2|B3KPW9|B4DWG3|Q2M3N4	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.G354D	ENST00000330423.3	37	c.1061	CCDS13751.1	22	.	.	.	.	.	.	.	.	.	.	.	20.4	3.988025	0.74589	.	.	ENSG00000183785	ENST00000316027;ENST00000330423;ENST00000416740	D;D;D	0.84873	-1.91;-1.91;-1.91	5.29	5.29	0.74685	Tubulin/FtsZ, 2-layer sandwich domain (3);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96380	0.8819	H	0.99650	4.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.98366	1.0551	10	0.87932	D	0	.	18.2967	0.90148	0.0:0.0:1.0:0.0	.	288;378;354	B3KPW9;C9J2C0;Q9NY65	.;.;TBA8_HUMAN	D	288;354;378	ENSP00000318575:G288D;ENSP00000333326:G354D;ENSP00000412646:G378D	ENSP00000318575:G288D	G	+	2	0	TUBA8	16993614	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.835000	0.99442	2.625000	0.88918	0.655000	0.94253	GGC	TUBA8	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin	ENSG00000183785		0.607	TUBA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA8	HGNC	protein_coding	OTTHUMT00000316232.3	-	0.00	55	0	G	NM_018943		18613614	+1	tier1	-	no_errors	ENST00000330423	ensembl	human	known	74_37	missense	5.62	84	5	SNP	1.000	A
UBAP1	51271	genome.wustl.edu	37	9	34241623	34241623	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr9:34241623G>T	ENST00000297661.4	+	4	835	c.600G>T	c.(598-600)ttG>ttT	p.L200F	UBAP1_ENST00000545103.1_Missense_Mutation_p.L264F|UBAP1_ENST00000540348.1_Missense_Mutation_p.L200F|UBAP1_ENST00000379186.4_Missense_Mutation_p.L200F|UBAP1_ENST00000536252.1_Missense_Mutation_p.L200F|UBAP1_ENST00000543944.1_Missense_Mutation_p.L236F|UBAP1_ENST00000359544.2_Missense_Mutation_p.L200F	NM_016525.4	NP_057609.2	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	200					protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|ESCRT I complex (GO:0000813)	ubiquitin binding (GO:0043130)			endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			ACAATAACTTGCCCAGGGGAG	0.463																																					NSCLC(109;1074 1634 14978 20375 39620)												0													55.0	58.0	57.0					9																	34241623		2203	4300	6503	SO:0001583	missense	0			AF222043	CCDS6550.1	9p13.3	2008-05-15	2002-08-27	2002-08-30	ENSG00000165006	ENSG00000165006			12461	protein-coding gene	gene with protein product		609787	"""ubiquitin associated protein"""	UBAP			Standard	NM_001171201		Approved		uc011loj.2	Q9NZ09	OTTHUMG00000000430	ENST00000297661.4:c.600G>T	9.37:g.34241623G>T	ENSP00000297661:p.Leu200Phe		B7Z348|B7Z8N9|D3DRL7|F5GXE2|F5H0J8|Q4V759|Q53FP7|Q5T7B3|Q6FI75|Q8NC52|Q8NCG6|Q8NCH9	Missense_Mutation	SNP	superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk	p.L264F	ENST00000297661.4	37	c.792	CCDS6550.1	9	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983939	0.53827	.	.	ENSG00000165006	ENST00000545103;ENST00000543944;ENST00000536252;ENST00000540348;ENST00000297661;ENST00000379186;ENST00000359544	T;T;T;T;T;T;T	0.52754	0.68;0.67;0.72;0.72;0.72;0.65;0.72	6.17	3.32	0.38043	.	0.417742	0.25738	N	0.028632	T	0.36441	0.0967	L	0.47716	1.5	0.37321	D	0.909559	B;B;B;B	0.28350	0.006;0.015;0.208;0.006	B;B;B;B	0.26770	0.013;0.023;0.073;0.013	T	0.30650	-0.9971	10	0.37606	T	0.19	-23.4238	7.034	0.24983	0.2034:0.1227:0.674:0.0	.	264;236;264;200	F5GXE2;F5H0J8;B7Z8N9;Q9NZ09	.;.;.;UBAP1_HUMAN	F	264;236;200;200;200;200;200	ENSP00000441024:L264F;ENSP00000439806:L236F;ENSP00000440456:L200F;ENSP00000439976:L200F;ENSP00000297661:L200F;ENSP00000368484:L200F;ENSP00000352541:L200F	ENSP00000297661:L200F	L	+	3	2	UBAP1	34231623	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.939000	0.28978	0.924000	0.37069	-0.140000	0.14226	TTG	UBAP1	-	NULL	ENSG00000165006		0.463	UBAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP1	HGNC	protein_coding	OTTHUMT00000001084.1		0.00	46	0	G			34241623	+1			no_errors	ENST00000545103	ensembl	human	known	74_37	missense	6.52	43	3	SNP	1.000	T
UBOX5	22888	genome.wustl.edu	37	20	3102655	3102655	+	Silent	SNP	C	C	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr20:3102655C>A	ENST00000217173.2	-	3	1101	c.630G>T	c.(628-630)ctG>ctT	p.L210L	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Silent_p.L210L	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						AGGTGACCAGCAGGATGCTGT	0.602																																																	0													51.0	45.0	47.0					20																	3102655		2203	4300	6503	SO:0001819	synonymous_variant	0			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.630G>T	20.37:g.3102655C>A				Silent	SNP	pfam_Ubox_domain,smart_Ubox_domain,pfscan_Znf_RING	p.L210	ENST00000217173.2	37	c.630	CCDS13046.1	20																																																																																			UBOX5	-	NULL	ENSG00000185019		0.602	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBOX5	HGNC	protein_coding	OTTHUMT00000077706.2		0.00	33	0	C	NM_014948		3102655	-1			no_errors	ENST00000217173	ensembl	human	known	74_37	silent	5.06	75	4	SNP	0.581	A
UBTF	7343	genome.wustl.edu	37	17	42286802	42286802	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:42286802G>T	ENST00000302904.4	-	17	2315	c.1823C>A	c.(1822-1824)tCc>tAc	p.S608Y	UBTF_ENST00000527034.1_Missense_Mutation_p.S571Y|UBTF_ENST00000436088.1_Missense_Mutation_p.S608Y|UBTF_ENST00000393606.3_Missense_Mutation_p.S571Y|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000526094.1_Missense_Mutation_p.S571Y|UBTF_ENST00000533177.1_Missense_Mutation_p.S571Y|UBTF_ENST00000343638.5_Missense_Mutation_p.S571Y|UBTF_ENST00000529383.1_Missense_Mutation_p.S608Y			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	608					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTGGCTCTGGGAGATGCGCTG	0.592																																																	0													86.0	72.0	77.0					17																	42286802		2203	4300	6503	SO:0001583	missense	0			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1823C>A	17.37:g.42286802G>T	ENSP00000302640:p.Ser608Tyr		A8K6R8	Missense_Mutation	SNP	pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom	p.S608Y	ENST00000302904.4	37	c.1823	CCDS11480.1	17	.	.	.	.	.	.	.	.	.	.	G	28.9	4.956403	0.92726	.	.	ENSG00000108312	ENST00000343638;ENST00000302904;ENST00000527034;ENST00000533177;ENST00000436088;ENST00000393606;ENST00000526094;ENST00000529383	T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	5.16	5.16	0.70880	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (3);	0.122076	0.56097	D	0.000025	T	0.72859	0.3513	M	0.73598	2.24	0.48975	D	0.999739	D;D;D	0.76494	0.999;0.995;0.995	D;D;D	0.71656	0.966;0.914;0.974	T	0.76206	-0.3044	10	0.66056	D	0.02	-14.4798	18.2838	0.90107	0.0:0.0:1.0:0.0	.	571;571;608	E9PKP7;P17480-2;P17480	.;.;UBF1_HUMAN	Y	571;608;571;571;608;571;571;608	ENSP00000345297:S571Y;ENSP00000302640:S608Y;ENSP00000431539:S571Y;ENSP00000437180:S571Y;ENSP00000390669:S608Y;ENSP00000377231:S571Y;ENSP00000432925:S571Y;ENSP00000435708:S608Y	ENSP00000302640:S608Y	S	-	2	0	UBTF	39642328	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.423000	0.73361	2.409000	0.81822	0.462000	0.41574	TCC	UBTF	-	superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom	ENSG00000108312		0.592	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1	-	0.00	38	0	G	NM_014233		42286802	-1	tier1	-	no_errors	ENST00000302904	ensembl	human	known	74_37	missense	58.33	20	28	SNP	1.000	T
UHRF1	29128	genome.wustl.edu	37	19	4954401	4954401	+	RNA	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:4954401C>T	ENST00000592666.1	+	0	2434							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|histone monoubiquitination (GO:0010390)|histone ubiquitination (GO:0016574)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of DNA topoisomerase (ATP-hydrolyzing) activity (GO:2000373)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autoubiquitination (GO:0051865)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|replication fork (GO:0005657)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|hemi-methylated DNA-binding (GO:0044729)|histone binding (GO:0042393)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|methyl-CpG binding (GO:0008327)|methylated histone binding (GO:0035064)|nucleosomal histone binding (GO:0031493)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		CAACCGAGAGCGAGAGAAGGA	0.642																																																	0													33.0	40.0	38.0					19																	4954401		2065	4187	6252			0			AF129507	CCDS74262.1, CCDS74263.1	19p13.3	2012-04-20	2008-08-14		ENSG00000034063	ENSG00000276043		"""RING-type (C3HC4) zinc fingers"""	12556	protein-coding gene	gene with protein product		607990				10646863	Standard	NM_001048201		Approved	ICBP90, Np95, FLJ21925, RNF106	uc002mbo.3	Q96T88			19.37:g.4954401C>T			A0JBR2|A8K024|B2RBA9|Q2HIX7|Q8J022|Q9H6S6|Q9P115|Q9P1U7	RNA	SNP	-	NULL	ENST00000592666.1	37	NULL		19	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847359	0.71603	.	.	ENSG00000034063	ENST00000262952;ENST00000396708;ENST00000455180;ENST00000543616;ENST00000398240	.	.	.	3.0	1.94	0.25998	.	0.504313	0.19911	N	0.103294	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-1.9334	8.2777	0.31881	0.7931:0.2069:0.0:0.0	.	.	.	.	X	620;235;620;620;633	.	ENSP00000262952:R620X	R	+	1	2	UHRF1	4905401	1.000000	0.71417	0.602000	0.28890	0.036000	0.12997	2.441000	0.44864	0.211000	0.20683	-0.704000	0.03662	CGA	UHRF1	-	-	ENSG00000034063		0.642	UHRF1-006	KNOWN	sequence_error|basic	processed_transcript	UHRF1	HGNC	processed_transcript	OTTHUMT00000450444.1	-	0.00	50	0	C	NM_001048201		4954401	+1	tier1	-	no_errors	ENST00000262952	ensembl	human	known	74_37	rna	37.66	47	29	SNP	1.000	T
WASH3P	374666	genome.wustl.edu	37	15	102512102	102512102	+	RNA	SNP	G	G	C			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr15:102512102G>C	ENST00000557932.1	+	0	172							C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TCAGACACTTGGGCCTCGGGC	0.542																																																	0																																												0					15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102512102G>C				RNA	SNP	-	NULL	ENST00000557932.1	37	NULL		15																																																																																			WASH3P	-	-	ENSG00000185596		0.542	WASH3P-001	KNOWN	basic	processed_transcript	WASH3P	HGNC	pseudogene	OTTHUMT00000417608.1	-	0.00	21	0	G	NM_199163		102512102	+1	tier1	-	no_errors	ENST00000354296	ensembl	human	known	74_37	rna	48.65	19	18	SNP	0.016	C
XAB2	56949	genome.wustl.edu	37	19	7685495	7685495	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:7685495G>T	ENST00000358368.4	-	15	2069	c.2032C>A	c.(2032-2034)Ctc>Atc	p.L678I	XAB2_ENST00000534844.1_Missense_Mutation_p.L675I	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	678					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ATCTCCCCGAGCTTGCACTCC	0.677								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													43.0	45.0	44.0					19																	7685495		2203	4300	6503	SO:0001583	missense	0			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.2032C>A	19.37:g.7685495G>T	ENSP00000351137:p.Leu678Ile		Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Missense_Mutation	SNP	smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L678I	ENST00000358368.4	37	c.2032	CCDS32892.1	19	.	.	.	.	.	.	.	.	.	.	G	20.6	4.021446	0.75275	.	.	ENSG00000076924	ENST00000358368;ENST00000534844	T;T	0.04862	3.54;3.54	4.31	4.31	0.51392	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000003	T	0.32763	0.0840	M	0.93898	3.47	0.58432	D	0.999998	D	0.69078	0.997	D	0.66602	0.945	T	0.49399	-0.8944	10	0.72032	D	0.01	-29.0949	15.7251	0.77751	0.0:0.0:1.0:0.0	.	678	Q9HCS7	SYF1_HUMAN	I	678;675	ENSP00000351137:L678I;ENSP00000438225:L675I	ENSP00000351137:L678I	L	-	1	0	XAB2	7591495	1.000000	0.71417	0.988000	0.46212	0.749000	0.42624	6.021000	0.70832	2.225000	0.72522	0.460000	0.39030	CTC	XAB2	-	NULL	ENSG00000076924		0.677	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XAB2	HGNC	protein_coding	OTTHUMT00000461021.1	-	0.00	39	0	G	NM_020196		7685495	-1	tier1	-	no_errors	ENST00000358368	ensembl	human	known	74_37	missense	6.06	60	4	SNP	1.000	T
XPO5	57510	genome.wustl.edu	37	6	43538251	43538251	+	Missense_Mutation	SNP	C	C	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr6:43538251C>A	ENST00000265351.7	-	5	819	c.609G>T	c.(607-609)aaG>aaT	p.K203N		NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	203					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CTTGCTGATACTTGTTTACAT	0.378																																																	0													212.0	207.0	209.0					6																	43538251		1860	4097	5957	SO:0001583	missense	0			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.609G>T	6.37:g.43538251C>A	ENSP00000265351:p.Lys203Asn		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.K203N	ENST00000265351.7	37	c.609	CCDS47430.1	6	.	.	.	.	.	.	.	.	.	.	C	9.874	1.199689	0.22121	.	.	ENSG00000124571	ENST00000265351	T	0.64991	-0.13	5.56	1.81	0.25067	Exportin-1/Importin-beta-like (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.236298	0.45361	D	0.000379	T	0.23532	0.0569	N	0.16478	0.41	0.44018	D	0.996733	B	0.18461	0.028	B	0.22152	0.038	T	0.04885	-1.0920	10	0.19147	T	0.46	-23.5997	10.8406	0.46712	0.0:0.6787:0.0:0.3213	.	203	Q9HAV4	XPO5_HUMAN	N	203	ENSP00000265351:K203N	ENSP00000265351:K203N	K	-	3	2	XPO5	43646229	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	0.734000	0.26101	0.413000	0.25759	-0.794000	0.03295	AAG	XPO5	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold	ENSG00000124571		0.378	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2	-	0.00	65	0	C	NM_020750		43538251	-1	tier1	-	no_errors	ENST00000265351	ensembl	human	known	74_37	missense	22.78	61	18	SNP	0.997	A
ZBTB33	10009	genome.wustl.edu	37	X	119388906	119388906	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:119388906G>T	ENST00000326624.2	+	2	1864	c.1636G>T	c.(1636-1638)Ggg>Tgg	p.G546W	ZBTB33_ENST00000557385.1_Missense_Mutation_p.G546W	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	546	Interaction with CTNND1. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TCATCACACAGGGGAGCGAAG	0.403																																																	0													137.0	123.0	128.0					X																	119388906		2203	4300	6503	SO:0001583	missense	0			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1636G>T	X.37:g.119388906G>T	ENSP00000314153:p.Gly546Trp		B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.G546W	ENST00000326624.2	37	c.1636	CCDS14596.1	X	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185197	0.57909	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.26810	1.71;1.71	5.55	5.55	0.83447	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	M	0.93328	3.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74393	-0.3680	10	0.87932	D	0	-9.0907	17.3434	0.87303	0.0:0.0:1.0:0.0	.	546	Q86T24	KAISO_HUMAN	W	546	ENSP00000314153:G546W;ENSP00000450969:G546W	ENSP00000314153:G546W	G	+	1	0	ZBTB33;AC002086.1	119272934	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.308000	0.77769	0.513000	0.50165	GGG	ZBTB33	-	pfscan_Znf_C2H2	ENSG00000177485		0.403	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB33	HGNC	protein_coding	OTTHUMT00000058085.2	-	0.00	59	0	G	NM_006777		119388906	+1	tier1	-	no_errors	ENST00000326624	ensembl	human	known	74_37	missense	6.45	58	4	SNP	1.000	T
ZC3H15	55854	genome.wustl.edu	37	2	187364362	187364362	+	Intron	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr2:187364362G>T	ENST00000337859.6	+	3	404				ZC3H15_ENST00000544130.1_Intron|AC018867.1_ENST00000396985.1_Intron|ZC3H15_ENST00000468120.1_Intron	NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15						cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			acgtataaatgtttggatgaa	0.328																																																	0																																										SO:0001627	intron_variant	0				CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.178-547G>T	2.37:g.187364362G>T			B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Missense_Mutation	SNP	NULL	p.C65F	ENST00000337859.6	37	c.194	CCDS42791.1	2																																																																																			ZC3H15	-	NULL	ENSG00000065548		0.328	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H15	HGNC	protein_coding	OTTHUMT00000334547.2	-	0.00	72	0	G	NM_018471		187364362	+1	tier1	-	no_errors	ENST00000437396	ensembl	human	known	74_37	missense	5.63	67	4	SNP	0.997	T
ZFHX3	463	genome.wustl.edu	37	16	72831382	72831382	+	Silent	SNP	T	T	C	rs112722798	byFrequency	TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr16:72831382T>C	ENST00000268489.5	-	9	5871	c.5199A>G	c.(5197-5199)caA>caG	p.Q1733Q	ZFHX3_ENST00000397992.5_Silent_p.Q819Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1733	Poly-Gln.				brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gttgttgttgttgttgctgtt	0.532																																																	0								T	,	2,4394	2.1+/-5.4	0,2,2196	44.0	41.0	42.0		2457,5199	-9.9	0.5	16	dbSNP_132	42	9,8591	3.7+/-12.6	0,9,4291	no	coding-synonymous,coding-synonymous	ZFHX3	NM_001164766.1,NM_006885.3	,	0,11,6487	CC,CT,TT		0.1047,0.0455,0.0846	,	819/2790,1733/3704	72831382	11,12985	2198	4300	6498	SO:0001819	synonymous_variant	0			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.5199A>G	16.37:g.72831382T>C			D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.Q1733	ENST00000268489.5	37	c.5199	CCDS10908.1	16																																																																																			ZFHX3	-	NULL	ENSG00000140836		0.532	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1		0.00	9	0	T	NM_006885		72831382	-1			no_errors	ENST00000268489	ensembl	human	known	74_37	silent	19.35	25	6	SNP	0.934	C
ZNF271	10778	genome.wustl.edu	37	18	32889613	32889613	+	RNA	SNP	A	A	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr18:32889613A>G	ENST00000399070.3	+	0	4007					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						gagggcatggaagctcagtgt	0.433																																																	0																																												0			X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32889613A>G			B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	-	NULL	ENST00000399070.3	37	NULL		18																																																																																			ZNF271	-	-	ENSG00000257267		0.433	ZNF271-002	KNOWN	basic	processed_transcript	ZNF271	HGNC	pseudogene	OTTHUMT00000255767.2	-	0.00	24	0	A	NR_024565		32889613	+1	tier1	-	no_errors	ENST00000399070	ensembl	human	known	74_37	rna	61.54	10	16	SNP	0.124	G
ZNF292	23036	genome.wustl.edu	37	6	87965931	87965931	+	Missense_Mutation	SNP	G	G	T	rs34219084		TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr6:87965931G>T	ENST00000369577.3	+	8	2627	c.2584G>T	c.(2584-2586)Gca>Tca	p.A862S	ZNF292_ENST00000339907.4_Missense_Mutation_p.A857S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	862						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCAGAACACAGCAGAGAATAT	0.403																																																	0													51.0	49.0	50.0					6																	87965931		1895	4125	6020	SO:0001583	missense	0			AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.2584G>T	6.37:g.87965931G>T	ENSP00000358590:p.Ala862Ser		Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A862S	ENST00000369577.3	37	c.2584	CCDS47457.1	6	.	.	.	.	.	.	.	.	.	.	G	4.441	0.081678	0.08533	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.06608	3.28;3.29	5.83	5.83	0.93111	.	0.653254	0.16377	N	0.217090	T	0.01661	0.0053	N	0.08118	0	0.32213	N	0.576223	B	0.02656	0.0	B	0.01281	0.0	T	0.46938	-0.9155	10	0.13470	T	0.59	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	862	O60281	ZN292_HUMAN	S	862;857	ENSP00000358590:A862S;ENSP00000342847:A857S	ENSP00000342847:A857S	A	+	1	0	ZNF292	88022650	0.847000	0.29606	0.978000	0.43139	0.863000	0.49368	2.249000	0.43169	2.756000	0.94617	0.655000	0.94253	GCA	ZNF292	-	NULL	ENSG00000188994		0.403	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF292	HGNC	protein_coding	OTTHUMT00000376192.2		0.00	44	0	G	NM_015021		87965931	+1			no_errors	ENST00000369577	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.955	T
ZNF33A	7581	genome.wustl.edu	37	10	38343702	38343702	+	Missense_Mutation	SNP	A	A	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:38343702A>G	ENST00000458705.2	+	5	805	c.647A>G	c.(646-648)cAc>cGc	p.H216R	ZNF33A_ENST00000307441.9_Missense_Mutation_p.H216R|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000374618.3_Missense_Mutation_p.H217R|ZNF33A_ENST00000432900.2_Missense_Mutation_p.H223R			Q06730	ZN33A_HUMAN	zinc finger protein 33A	216					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)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						ACTTTAGAGCACAATTTTGAA	0.353																																																	0													82.0	81.0	82.0					10																	38343702		2203	4300	6503	SO:0001583	missense	0			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.647A>G	10.37:g.38343702A>G	ENSP00000387713:p.His216Arg		A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	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.H223R	ENST00000458705.2	37	c.668	CCDS31182.1	10	.	.	.	.	.	.	.	.	.	.	A	11.40	1.627304	0.28978	.	.	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.05081	3.54;3.5;3.5;3.5	2.26	-0.579	0.11720	.	0.469523	0.15964	N	0.236124	T	0.03608	0.0103	N	0.22421	0.69	0.22412	N	0.99913	B;B;B	0.09022	0.002;0.0;0.001	B;B;B	0.06405	0.001;0.0;0.002	T	0.37267	-0.9713	10	0.51188	T	0.08	.	2.6142	0.04899	0.6184:0.0:0.1524:0.2293	.	223;216;217	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	R	217;223;216;216	ENSP00000363747:H217R;ENSP00000402467:H223R;ENSP00000387713:H216R;ENSP00000304268:H216R	ENSP00000304268:H216R	H	+	2	0	ZNF33A	38383708	0.000000	0.05858	0.220000	0.23810	0.542000	0.35054	0.083000	0.14871	-0.287000	0.09064	0.377000	0.23210	CAC	ZNF33A	-	NULL	ENSG00000189180		0.353	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1	-	0.00	61	0	A	NM_006974		38343702	+1	tier1	-	no_errors	ENST00000432900	ensembl	human	known	74_37	missense	41.30	27	19	SNP	0.869	G
ZNF37BP	100129482	genome.wustl.edu	37	10	43015629	43015629	+	RNA	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:43015629G>A	ENST00000452075.3	-	0	1965					NR_026777.1				zinc finger protein 37B, pseudogene																		GATGTTTAATGAGGTCGGATT	0.403																																																	0																																												0			AK026980		10q11.21	2012-10-05	2010-08-03	2010-08-03	ENSG00000234420	ENSG00000234420			13103	pseudogene	pseudogene			"""zinc finger protein 37b (KOX 21)"", ""zinc finger protein 37B"", ""zinc finger protein 37B (pseudogene)"""	ZNF37B		2014798, 8464732	Standard	NR_026777		Approved	KOX21, FLJ23327	uc001jab.4		OTTHUMG00000018011		10.37:g.43015629G>A				RNA	SNP	-	NULL	ENST00000452075.3	37	NULL		10																																																																																			ZNF37BP	-	-	ENSG00000234420		0.403	ZNF37BP-002	KNOWN	basic	processed_transcript	ZNF37BP	HGNC	pseudogene	OTTHUMT00000047675.2	-	0.00	38	0	G	NR_026777		43015629	-1	tier1	-	no_errors	ENST00000452075	ensembl	human	known	74_37	rna	16.67	29	6	SNP	0.040	A
ZNF382	84911	genome.wustl.edu	37	19	37117694	37117694	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:37117694C>G	ENST00000292928.2	+	5	1008	c.895C>G	c.(895-897)Cct>Gct	p.P299A	ZNF382_ENST00000423582.1_Missense_Mutation_p.P250A|CTD-3234P18.2_ENST00000585467.1_lincRNA|ZNF382_ENST00000439428.1_Missense_Mutation_p.P298A|ZNF382_ENST00000435416.1_Missense_Mutation_p.P298A	NM_001256838.1|NM_032825.4	NP_001243767.1|NP_116214.2	Q96SR6	ZN382_HUMAN	zinc finger protein 382	299	Required for transcriptional repression activity; probably mediates sequence- specific DNA-binding. {ECO:0000250}.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	34	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTTTCACTGTCCTTACTGTGG	0.413																																																	0													102.0	103.0	102.0					19																	37117694		2203	4300	6503	SO:0001583	missense	0			AF513816	CCDS33004.1, CCDS58659.1	19q13.13	2013-01-08			ENSG00000161298	ENSG00000161298		"""Zinc fingers, C2H2-type"", ""-"""	17409	protein-coding gene	gene with protein product		609516					Standard	NM_032825		Approved	FLJ14686, KS1	uc010efb.4	Q96SR6	OTTHUMG00000048153	ENST00000292928.2:c.895C>G	19.37:g.37117694C>G	ENSP00000292928:p.Pro299Ala		A3KMP6|A8MT55|C9K0V5|Q53ZY8|Q5JPJ2	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.P299A	ENST00000292928.2	37	c.895	CCDS33004.1	19	.	.	.	.	.	.	.	.	.	.	C	3.093	-0.186528	0.06340	.	.	ENSG00000161298	ENST00000423582;ENST00000292928;ENST00000439428;ENST00000435416	T;T;T;T	0.06933	3.24;3.24;3.24;3.24	4.52	-2.06	0.07298	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.367618	0.20129	N	0.098627	T	0.04998	0.0134	L	0.40543	1.245	0.18873	N	0.999987	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.32107	-0.9919	10	0.30854	T	0.27	.	2.0828	0.03639	0.1364:0.472:0.1338:0.2578	.	298;298;299	Q96SR6-2;Q96SR6-3;Q96SR6	.;.;ZN382_HUMAN	A	250;299;298;298	ENSP00000389722:P250A;ENSP00000292928:P299A;ENSP00000407593:P298A;ENSP00000410113:P298A	ENSP00000292928:P299A	P	+	1	0	ZNF382	41809534	0.000000	0.05858	0.994000	0.49952	0.972000	0.66771	-2.430000	0.01024	-0.012000	0.14223	-0.373000	0.07131	CCT	ZNF382	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000161298		0.413	ZNF382-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF382	HGNC	protein_coding	OTTHUMT00000109562.2	-	0.00	52	0	C	NM_032825		37117694	+1	tier1	-	no_errors	ENST00000292928	ensembl	human	known	74_37	missense	35.37	53	29	SNP	0.149	G
ZNF420	147923	genome.wustl.edu	37	19	37619827	37619827	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:37619827G>A	ENST00000337995.3	+	5	2149	c.1934G>A	c.(1933-1935)tGt>tAt	p.C645Y	ZNF585A_ENST00000588723.1_Intron|CTC-454I21.4_ENST00000587645.1_RNA|ZNF420_ENST00000586540.1_Intron|ZNF420_ENST00000304239.7_Intron	NM_144689.3	NP_653290.2	Q8TAQ5	ZN420_HUMAN	zinc finger protein 420	645					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCATATCAATGTAAGGAATGT	0.398																																																	0													78.0	76.0	77.0					19																	37619827		2203	4299	6502	SO:0001583	missense	0			AK056695	CCDS12498.1	19q13.12	2013-01-08			ENSG00000197050	ENSG00000197050		"""Zinc fingers, C2H2-type"", ""-"""	20649	protein-coding gene	gene with protein product							Standard	NM_144689		Approved	FLJ32191	uc002ofl.3	Q8TAQ5	OTTHUMG00000048168	ENST00000337995.3:c.1934G>A	19.37:g.37619827G>A	ENSP00000338770:p.Cys645Tyr		B2RDY6|Q96ML5	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.C645Y	ENST00000337995.3	37	c.1934	CCDS12498.1	19	.	.	.	.	.	.	.	.	.	.	G	18.42	3.620744	0.66787	.	.	ENSG00000197050	ENST00000337995	D	0.85088	-1.94	4.46	4.46	0.54185	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93687	0.7983	M	0.90870	3.155	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94950	0.8099	8	.	.	.	.	16.0256	0.80541	0.0:0.0:1.0:0.0	.	645	Q8TAQ5	ZN420_HUMAN	Y	645	ENSP00000338770:C645Y	.	C	+	2	0	ZNF420	42311667	1.000000	0.71417	0.974000	0.42286	0.992000	0.81027	5.965000	0.70387	2.315000	0.78130	0.655000	0.94253	TGT	ZNF420	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000197050		0.398	ZNF420-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF420	HGNC	protein_coding	OTTHUMT00000109587.3	-	0.00	91	0	G	NM_144689		37619827	+1	tier1	-	no_errors	ENST00000337995	ensembl	human	known	74_37	missense	27.55	71	27	SNP	0.993	A
ZNF532	55205	genome.wustl.edu	37	18	56615330	56615330	+	Missense_Mutation	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr18:56615330G>T	ENST00000336078.4	+	7	3513	c.2737G>T	c.(2737-2739)Gtg>Ttg	p.V913L	ZNF532_ENST00000591808.1_Missense_Mutation_p.V913L|ZNF532_ENST00000591083.1_Missense_Mutation_p.V913L|ZNF532_ENST00000589288.1_Missense_Mutation_p.V913L|ZNF532_ENST00000591230.1_Missense_Mutation_p.V913L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	913					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GTGCGACACTGTGTTCACCCT	0.403																																																	0													121.0	120.0	120.0					18																	56615330		2203	4300	6503	SO:0001583	missense	0			AB046849	CCDS11969.1	18q21.32	2005-08-22			ENSG00000074657	ENSG00000074657		"""Zinc fingers, C2H2-type"""	30940	protein-coding gene	gene with protein product						10997877	Standard	XM_005266723		Approved	FLJ10697	uc002lho.3	Q9HCE3	OTTHUMG00000132759	ENST00000336078.4:c.2737G>T	18.37:g.56615330G>T	ENSP00000338217:p.Val913Leu		Q4G0V6|Q7L7Z7|Q96QR7|Q9NVJ6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V913L	ENST00000336078.4	37	c.2737	CCDS11969.1	18	.	.	.	.	.	.	.	.	.	.	G	30	5.050063	0.93740	.	.	ENSG00000074657	ENST00000336078	T	0.28069	1.63	5.59	5.59	0.84812	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.85682	D	0.000000	T	0.51534	0.1680	L	0.51853	1.615	0.58432	D	0.999998	D;P	0.58970	0.984;0.595	D;B	0.70016	0.967;0.192	T	0.43426	-0.9392	10	0.54805	T	0.06	-19.1508	18.7313	0.91736	0.0:0.0:1.0:0.0	.	913;913	B3KXW2;Q9HCE3	.;ZN532_HUMAN	L	913	ENSP00000338217:V913L	ENSP00000338217:V913L	V	+	1	0	ZNF532	54766310	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.751000	0.98889	2.783000	0.95769	0.655000	0.94253	GTG	ZNF532	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000074657		0.403	ZNF532-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF532	HGNC	protein_coding	OTTHUMT00000256130.1	-	0.00	32	0	G	NM_018181		56615330	+1	tier1	-	no_errors	ENST00000336078	ensembl	human	known	74_37	missense	9.76	37	4	SNP	1.000	T
ZNF569	148266	genome.wustl.edu	37	19	37903687	37903687	+	Missense_Mutation	SNP	T	T	C			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:37903687T>C	ENST00000316950.6	-	6	2430	c.1873A>G	c.(1873-1875)Ata>Gta	p.I625V	ZNF569_ENST00000392149.2_Missense_Mutation_p.I625V|ZNF569_ENST00000392150.2_Missense_Mutation_p.I466V	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	625					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTCCTCGTATATGTATAGTA	0.403																																																	0													123.0	119.0	121.0					19																	37903687		2203	4300	6503	SO:0001583	missense	0			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1873A>G	19.37:g.37903687T>C	ENSP00000325018:p.Ile625Val		A8K1S2|Q15925|Q17RR6|Q96MQ2	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.I625V	ENST00000316950.6	37	c.1873	CCDS12503.1	19	.	.	.	.	.	.	.	.	.	.	T	13.94	2.387280	0.42308	.	.	ENSG00000196437	ENST00000316950;ENST00000392149;ENST00000392150	T;T	0.19394	2.15;2.15	4.09	0.668	0.17912	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36703	N	0.002446	T	0.08133	0.0203	N	0.11000	0.08	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.13407	0.009;0.009	T	0.22487	-1.0215	10	0.72032	D	0.01	.	0.1188	0.00063	0.2205:0.2143:0.2262:0.339	.	466;625	Q17RR6;Q5MCW4	.;ZN569_HUMAN	V	625;281;466	ENSP00000325018:I625V;ENSP00000375993:I466V	ENSP00000325018:I625V	I	-	1	0	ZNF569	42595527	0.000000	0.05858	0.326000	0.25389	0.987000	0.75469	-1.863000	0.01651	0.186000	0.20125	0.460000	0.39030	ATA	ZNF569	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196437		0.403	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	HGNC	protein_coding	OTTHUMT00000109594.2	-	0.00	60	0	T	NM_152484		37903687	-1	tier1	-	no_errors	ENST00000316950	ensembl	human	known	74_37	missense	31.96	66	31	SNP	0.060	C
ZNF573	126231	genome.wustl.edu	37	19	38283470	38283470	+	5'UTR	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:38283470G>T	ENST00000480587.2	-	0	460				ZNF573_ENST00000392138.1_Intron|CTD-2554C21.1_ENST00000591908.1_RNA			Q86YE8	ZN573_HUMAN	zinc finger protein 573						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)			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TGACTTTGATGATCTTTCCCA	0.438																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AK074539	CCDS12508.1, CCDS54260.1, CCDS59381.1	19q13.12	2013-09-20			ENSG00000189144	ENSG00000189144		"""Zinc fingers, C2H2-type"", ""-"""	26420	protein-coding gene	gene with protein product						12477932	Standard	NM_152360		Approved	FLJ30921	uc002ohe.3	Q86YE8	OTTHUMG00000048183	ENST00000480587.2:c.-261C>A	19.37:g.38283470G>T			B7WPE1|K7EJ45|Q6P1P1|Q7Z7Q3|Q8N2Q1|Q96BM3|Q96NH0	RNA	SNP	-	NULL	ENST00000480587.2	37	NULL		19																																																																																			ZNF573	-	-	ENSG00000189144		0.438	ZNF573-005	KNOWN	basic	processed_transcript	ZNF573	HGNC	protein_coding	OTTHUMT00000109616.2	-	0.00	45	0	G	NM_152360		38283470	-1	tier1	-	no_errors	ENST00000480587	ensembl	human	known	74_37	rna	15.38	66	12	SNP	1.000	T
ZNF654	55279	genome.wustl.edu	37	3	88188630	88188630	+	Missense_Mutation	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr3:88188630C>T	ENST00000309495.5	+	1	377	c.170C>T	c.(169-171)gCt>gTt	p.A57V	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	57					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A18V(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		CAGCAAATTGCTGCAGCTCAA	0.358																																																	1	Substitution - Missense(1)	ovary(1)											87.0	87.0	87.0					3																	88188630		1894	4109	6003	SO:0001583	missense	0			AF543494	CCDS46874.1	3p11.1	2005-01-10			ENSG00000175105	ENSG00000175105			25612	protein-coding gene	gene with protein product							Standard	NM_018293		Approved	FLJ10997, FLJ21142	uc003dqv.3	Q8IZM8	OTTHUMG00000159097	ENST00000309495.5:c.170C>T	3.37:g.88188630C>T	ENSP00000312141:p.Ala57Val		Q9H791|Q9NV14	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A57V	ENST00000309495.5	37	c.170	CCDS46874.1	3	.	.	.	.	.	.	.	.	.	.	C	15.94	2.981286	0.53827	.	.	ENSG00000175105	ENST00000309495	T	0.11063	2.81	5.42	5.42	0.78866	.	1.116960	0.06558	N	0.746224	T	0.15609	0.0376	L	0.29908	0.895	0.40517	D	0.980791	P	0.48589	0.912	P	0.45310	0.476	T	0.33394	-0.9870	10	0.32370	T	0.25	.	18.2814	0.90099	0.0:1.0:0.0:0.0	.	57	Q8IZM8	ZN654_HUMAN	V	57	ENSP00000312141:A57V	ENSP00000312141:A57V	A	+	2	0	ZNF654	88271320	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.704000	0.74639	2.565000	0.86533	0.549000	0.68633	GCT	ZNF654	-	NULL	ENSG00000175105		0.358	ZNF654-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF654	HGNC	protein_coding	OTTHUMT00000353285.2		0.00	20	0	C	NM_018293		88188630	+1			no_errors	ENST00000309495	ensembl	human	known	74_37	missense	6.25	30	2	SNP	1.000	T
ZNF700	90592	genome.wustl.edu	37	19	12060151	12060151	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:12060151G>A	ENST00000254321.5	+	4	1455	c.1312G>A	c.(1312-1314)Ggg>Agg	p.G438R	ZNF700_ENST00000482090.1_Missense_Mutation_p.G420R|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						AGTGCACGGTGGGACTCACAC	0.483																																																	0													89.0	81.0	84.0					19																	12060151		2203	4300	6503	SO:0001583	missense	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1312G>A	19.37:g.12060151G>A	ENSP00000254321:p.Gly438Arg		B9EGU4	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.G438R	ENST00000254321.5	37	c.1312	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	g	0.003	-2.431883	0.00184	.	.	ENSG00000196757	ENST00000254321	T	0.12569	2.67	0.527	-0.686	0.11324	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01254	0.0041	N	0.00010	-3.05	0.09310	N	1	B	0.10296	0.003	B	0.14023	0.01	T	0.43097	-0.9412	9	0.02654	T	1	.	2.5489	0.04743	0.4667:0.2778:0.2555:0.0	.	438	Q9H0M5	ZN700_HUMAN	R	438	ENSP00000254321:G438R	ENSP00000254321:G438R	G	+	1	0	ZNF700	11921151	0.000000	0.05858	0.002000	0.10522	0.032000	0.12392	-0.386000	0.07370	-0.352000	0.08237	0.195000	0.17529	GGG	ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196757		0.483	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2	-	0.00	66	0	G	NM_144566		12060151	+1	tier1	-	no_errors	ENST00000254321	ensembl	human	known	74_37	missense	16.13	104	20	SNP	0.174	A
ZNF700	90592	genome.wustl.edu	37	19	12060127	12060127	+	Missense_Mutation	SNP	G	G	A			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:12060127G>A	ENST00000254321.5	+	4	1431	c.1288G>A	c.(1288-1290)Gcc>Acc	p.A430T	ZNF700_ENST00000482090.1_Missense_Mutation_p.A412T|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	430					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTTCAGATCTGCCTCACAGCT	0.468																																																	0													91.0	82.0	85.0					19																	12060127		2203	4300	6503	SO:0001583	missense	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1288G>A	19.37:g.12060127G>A	ENSP00000254321:p.Ala430Thr		B9EGU4	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.A430T	ENST00000254321.5	37	c.1288	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	g	3.511	-0.099732	0.07010	.	.	ENSG00000196757	ENST00000254321	T	0.33654	1.4	0.606	-1.21	0.09524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19725	0.0474	L	0.27053	0.805	0.09310	N	1	P	0.47677	0.899	B	0.43478	0.421	T	0.10590	-1.0623	9	0.22706	T	0.39	.	0.126	0.00069	0.337:0.1646:0.1757:0.3227	.	430	Q9H0M5	ZN700_HUMAN	T	430	ENSP00000254321:A430T	ENSP00000254321:A430T	A	+	1	0	ZNF700	11921127	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	-1.301000	0.02749	-2.331000	0.00632	-1.098000	0.02139	GCC	ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196757		0.468	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2		0.00	69	0	G	NM_144566		12060127	+1			no_errors	ENST00000254321	ensembl	human	known	74_37	missense	7.02	106	8	SNP	0.000	A
ZNF700	90592	genome.wustl.edu	37	19	12060135	12060135	+	Missense_Mutation	SNP	G	G	C			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:12060135G>C	ENST00000254321.5	+	4	1439	c.1296G>C	c.(1294-1296)caG>caC	p.Q432H	ZNF700_ENST00000482090.1_Missense_Mutation_p.Q414H|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	432					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTGCCTCACAGCTTCGAGTGC	0.473																																																	0													91.0	82.0	85.0					19																	12060135		2203	4300	6503	SO:0001583	missense	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1296G>C	19.37:g.12060135G>C	ENSP00000254321:p.Gln432His		B9EGU4	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.Q432H	ENST00000254321.5	37	c.1296	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	g	0	-2.630517	0.00115	.	.	ENSG00000196757	ENST00000254321	T	0.36520	1.25	0.864	-1.73	0.08081	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14184	0.0343	N	0.05330	-0.07	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.10941	-1.0608	9	0.23302	T	0.38	.	2.1495	0.03796	0.263:0.4445:0.1438:0.1487	.	432	Q9H0M5	ZN700_HUMAN	H	432	ENSP00000254321:Q432H	ENSP00000254321:Q432H	Q	+	3	2	ZNF700	11921135	0.009000	0.17119	0.000000	0.03702	0.044000	0.14063	-0.232000	0.09055	-2.905000	0.00310	-1.112000	0.02068	CAG	ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196757		0.473	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2		0.00	69	0	G	NM_144566		12060135	+1			no_errors	ENST00000254321	ensembl	human	known	74_37	missense	6.09	107	7	SNP	0.000	C
ZNF700	90592	genome.wustl.edu	37	19	12060147	12060147	+	Silent	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:12060147C>T	ENST00000254321.5	+	4	1451	c.1308C>T	c.(1306-1308)caC>caT	p.H436H	ZNF700_ENST00000482090.1_Silent_p.H418H|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	436					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TTCGAGTGCACGGTGGGACTC	0.483																																																	0													89.0	81.0	83.0					19																	12060147		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1308C>T	19.37:g.12060147C>T			B9EGU4	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.H436	ENST00000254321.5	37	c.1308	CCDS32915.1	19																																																																																			ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196757		0.483	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2		0.00	69	0	C	NM_144566		12060147	+1			no_errors	ENST00000254321	ensembl	human	known	74_37	silent	14.17	103	17	SNP	0.090	T
ZNF700	90592	genome.wustl.edu	37	19	12060159	12060159	+	Silent	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:12060159C>T	ENST00000254321.5	+	4	1463	c.1320C>T	c.(1318-1320)caC>caT	p.H440H	ZNF700_ENST00000482090.1_Silent_p.H422H|ZNF763_ENST00000591944.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	440					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GTGGGACTCACACTGGAGAGA	0.488																																																	0													88.0	81.0	83.0					19																	12060159		2203	4300	6503	SO:0001819	synonymous_variant	0			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1320C>T	19.37:g.12060159C>T			B9EGU4	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.H440	ENST00000254321.5	37	c.1320	CCDS32915.1	19																																																																																			ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196757		0.488	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2	-	0.00	61	0	C	NM_144566		12060159	+1	tier1	-	no_errors	ENST00000254321	ensembl	human	known	74_37	silent	16.80	102	21	SNP	0.994	T
ZNF711	7552	genome.wustl.edu	37	X	84526289	84526289	+	Silent	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chrX:84526289C>T	ENST00000373165.3	+	9	2047	c.1741C>T	c.(1741-1743)Ctg>Ttg	p.L581L	ZNF711_ENST00000360700.4_Silent_p.L627L|ZNF711_ENST00000276123.3_Silent_p.L581L|ZNF711_ENST00000542798.1_Silent_p.L423L|ZNF711_ENST00000395402.1_Silent_p.L589L	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	581					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						TCAACGCCATCTGGATTTGTT	0.418																																																	0													77.0	62.0	67.0					X																	84526289		2202	4297	6499	SO:0001819	synonymous_variant	0			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1741C>T	X.37:g.84526289C>T			B4DSV4|Q6NX42|Q9Y4J6	Silent	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L589	ENST00000373165.3	37	c.1765	CCDS35344.1	X																																																																																			ZNF711	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000147180		0.418	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	-	0.00	64	0	C	NM_021998		84526289	+1	tier1	-	no_errors	ENST00000395402	ensembl	human	known	74_37	silent	9.52	38	4	SNP	0.953	T
ZNF829	374899	genome.wustl.edu	37	19	37406748	37406748	+	Intron	SNP	C	C	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr19:37406748C>T	ENST00000391711.3	-	1	281				ZNF568_ENST00000455427.2_5'Flank|ZNF568_ENST00000415168.1_5'Flank|ZNF829_ENST00000520965.1_Missense_Mutation_p.E37K|ZNF568_ENST00000333987.7_5'Flank|ZNF568_ENST00000427117.1_5'Flank	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			cctcctgcctcggcctcccaa	0.567																																																	0																																										SO:0001627	intron_variant	0			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.83+164G>A	19.37:g.37406748C>T			Q3KNS7|Q6ZNN0|Q7Z657	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.E37K	ENST00000391711.3	37	c.109	CCDS42557.1	19																																																																																			ZNF829	-	NULL	ENSG00000185869		0.567	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF829	HGNC	protein_coding	OTTHUMT00000109575.3	-	0.00	27	0	C	NM_001037232		37406748	-1	tier1	-	no_errors	ENST00000520965	ensembl	human	known	74_37	missense	15.38	55	10	SNP	0.002	T
ZSWIM8	23053	genome.wustl.edu	37	10	75556109	75556109	+	Intron	DEL	A	A	-	rs144915982	byFrequency	TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:75556109delA	ENST00000605216.1	+	16	3235				ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000603114.1_Intron|ZSWIM8_ENST00000604524.1_Intron|ZSWIM8_ENST00000604729.1_Intron|ZSWIM8_ENST00000398706.2_Intron	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8								zinc ion binding (GO:0008270)										cctgtctcttaaaaaaaaaag	0.443													|||unknown(HR)	9	0.00179712	0.0045	0.0029	5008	,	,		17905	0.0		0.001	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.3019-423A>-	10.37:g.75556109delA			B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	RNA	DEL	-	NULL	ENST00000605216.1	37	NULL		10																																																																																			ZSWIM8	-	-	ENSG00000214655		0.443	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1		0.00	14	0	A	NM_001242487		75556109	+1	tier1		no_errors	ENST00000425051	ensembl	human	known	74_37	rna	10.53	17	2	DEL	0.341	-
ZSWIM8	23053	genome.wustl.edu	37	10	75560670	75560670	+	Intron	SNP	G	G	T	rs148636613	byFrequency	TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr10:75560670G>T	ENST00000605216.1	+	25	5348				ZSWIM8-AS1_ENST00000456638.2_RNA|ZSWIM8_ENST00000603114.1_Intron|RP11-574K11.31_ENST00000603027.1_Intron|ZSWIM8_ENST00000604524.1_Intron|ZSWIM8_ENST00000604729.1_Intron|ZSWIM8_ENST00000398706.2_Intron	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8								zinc ion binding (GO:0008270)										CTCAGCTCCTGGGGTGGAGGG	0.647																																																	0																																										SO:0001627	intron_variant	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.5132-105G>T	10.37:g.75560670G>T			B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	RNA	SNP	-	NULL	ENST00000605216.1	37	NULL		10																																																																																			ZSWIM8	-	-	ENSG00000214655		0.647	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	ZSWIM8	HGNC	protein_coding	OTTHUMT00000468545.1		0.00	52	0	G	NM_001242487		75560670	+1			no_errors	ENST00000466568	ensembl	human	known	74_37	rna	5.19	73	4	SNP	0.998	T
ZWILCH	55055	genome.wustl.edu	37	15	66811367	66811370	+	Frame_Shift_Del	DEL	AACA	AACA	-	rs150058435	byFrequency	TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	AACA	AACA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr15:66811367_66811370delAACA	ENST00000307897.5	+	5	851_854	c.471_474delAACA	c.(469-474)acaacafs	p.TT157fs	ZWILCH_ENST00000446801.2_Frame_Shift_Del_p.TT43fs|ZWILCH_ENST00000565960.1_Intron|RPL4_ENST00000564517.1_Intron|ZWILCH_ENST00000535141.2_Frame_Shift_Del_p.TT43fs|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_Frame_Shift_Del_p.TT43fs	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	157					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						AGCTTATCACAACAAACAACAGCA	0.407																																																	0																																										SO:0001589	frameshift_variant	0			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.471_474delAACA	15.37:g.66811371_66811374delAACA	ENSP00000311429:p.Thr157fs		B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Frame_Shift_Del	DEL	pfam_RZZ-complex_zwilch	p.N159fs	ENST00000307897.5	37	c.471_474	CCDS10219.1	15																																																																																			ZWILCH	-	pfam_RZZ-complex_zwilch	ENSG00000174442		0.407	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZWILCH	HGNC	protein_coding	OTTHUMT00000256904.4		0.00	67	0	AACA	NM_017975		66811370	+1			no_errors	ENST00000307897	ensembl	human	known	74_37	frame_shift_del	9.09	60	6	DEL	0.000:0.000:0.007:0.000	0
ZZEF1	23140	genome.wustl.edu	37	17	3969750	3969750	+	Missense_Mutation	SNP	C	C	G			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:3969750C>G	ENST00000381638.2	-	28	4364	c.4240G>C	c.(4240-4242)Gag>Cag	p.E1414Q		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1414							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CCCAGGCTCTCAGGGTTCACC	0.453																																																	0													207.0	194.0	199.0					17																	3969750		2203	4300	6503	SO:0001583	missense	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.4240G>C	17.37:g.3969750C>G	ENSP00000371051:p.Glu1414Gln		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ	p.E1414Q	ENST00000381638.2	37	c.4240	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742787	0.49151	.	.	ENSG00000074755	ENST00000381638	T	0.25749	1.78	5.38	4.4	0.53042	.	0.185192	0.47852	D	0.000218	T	0.16685	0.0401	L	0.29908	0.895	0.41256	D	0.986743	P;P	0.39883	0.693;0.567	B;B	0.35470	0.203;0.1	T	0.02371	-1.1169	10	0.49607	T	0.09	-19.5113	9.2182	0.37360	0.0:0.7762:0.147:0.0768	.	1414;1414	O43149-2;O43149	.;ZZEF1_HUMAN	Q	1414	ENSP00000371051:E1414Q	ENSP00000371051:E1414Q	E	-	1	0	ZZEF1	3916499	0.996000	0.38824	0.998000	0.56505	0.831000	0.47069	3.527000	0.53517	2.511000	0.84671	0.561000	0.74099	GAG	ZZEF1	-	NULL	ENSG00000074755		0.453	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	-	0.00	59	0	C	NM_015113		3969750	-1	tier1	-	no_errors	ENST00000381638	ensembl	human	known	74_37	missense	35.45	71	39	SNP	0.996	G
ZZEF1	23140	genome.wustl.edu	37	17	3992103	3992103	+	Silent	SNP	G	G	T			TCGA-LN-A8I1-01A-11D-A36J-09	TCGA-LN-A8I1-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	62b389fa-2db2-4b3a-9168-021bfea8d00f	5b49dfb2-1197-4a77-afeb-3d827509d4c6	g.chr17:3992103G>T	ENST00000381638.2	-	13	2234	c.2110C>A	c.(2110-2112)Cgg>Agg	p.R704R	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	704							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTTGCAGGCCGGAGGTACCCA	0.572																																																	0													134.0	100.0	111.0					17																	3992103		2203	4300	6503	SO:0001819	synonymous_variant	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2110C>A	17.37:g.3992103G>T			A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ	p.R704	ENST00000381638.2	37	c.2110	CCDS11043.1	17																																																																																			ZZEF1	-	NULL	ENSG00000074755		0.572	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	-	0.00	49	0	G	NM_015113		3992103	-1	tier1	-	no_errors	ENST00000381638	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.998	T
