#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ZNF721	170960	genome.wustl.edu	37	4	419737	419737	+	IGR	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:419737G>C	ENST00000506646.1	-	0	935				ABCA11P_ENST00000451020.2_RNA			Q8TF20	ZN721_HUMAN	zinc finger protein 721						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(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						GCCTGAGACAGAGGGTGGACA	0.463																																																	0																																										SO:0001628	intergenic_variant	79963			AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20			4.37:g.419737G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YG7	RNA	SNP	-	NULL	ENST00000506646.1	37	NULL		4																																																																																			ABCA11P	-	-		0.463	ZNF721-003	PUTATIVE	basic	protein_coding	ABCA11P	HGNC	protein_coding	OTTHUMT00000357869.2	G	NM_133474		419737	-1	no_errors	ENST00000451020	ensembl	human	known	70_37	rna	SNP	0.264	C
ABCA13	154664	genome.wustl.edu	37	7	48312257	48312257	+	Silent	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:48312257C>T	ENST00000435803.1	+	17	3018	c.2994C>T	c.(2992-2994)atC>atT	p.I998I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	998					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTTGGATATCATAAAACAAT	0.303																																																	0													27.0	27.0	27.0					7																	48312257		1804	4060	5864	SO:0001819	synonymous_variant	154664			AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.2994C>T	7.37:g.48312257C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.I998	ENST00000435803.1	37	c.2994	CCDS47584.1	7																																																																																			ABCA13	-	NULL		0.303	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	C	NM_152701		48312257	+1	no_errors	ENST00000435803	ensembl	human	known	70_37	silent	SNP	0.131	T
ABCA6	23460	genome.wustl.edu	37	17	67077221	67077221	+	Missense_Mutation	SNP	T	T	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:67077221T>A	ENST00000284425.2	-	37	4856	c.4682A>T	c.(4681-4683)cAc>cTc	p.H1561L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1561					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTCTAATTTGTGAAAGGTCTG	0.353																																																	0													120.0	124.0	122.0					17																	67077221		2203	4300	6503	SO:0001583	missense	23460			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4682A>T	17.37:g.67077221T>A	ENSP00000284425:p.His1561Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.H1561L	ENST00000284425.2	37	c.4682	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	T	4.717	0.133243	0.09032	.	.	ENSG00000154262	ENST00000284425;ENST00000446604	D	0.82803	-1.65	5.26	2.96	0.34315	.	0.523522	0.16502	N	0.211613	T	0.56277	0.1974	N	0.04636	-0.2	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45308	-0.9270	10	0.10377	T	0.69	.	1.904	0.03273	0.1527:0.0922:0.1783:0.5768	.	1561	Q8N139	ABCA6_HUMAN	L	1561;421	ENSP00000284425:H1561L	ENSP00000284425:H1561L	H	-	2	0	ABCA6	64588816	0.008000	0.16893	0.998000	0.56505	0.623000	0.37688	0.004000	0.13106	1.014000	0.39417	0.533000	0.62120	CAC	ABCA6	-	NULL		0.353	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1	T	NM_080284		67077221	-1	no_errors	ENST00000284425	ensembl	human	known	70_37	missense	SNP	0.962	A
ABCG5	64240	genome.wustl.edu	37	2	44053554	44053554	+	Silent	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:44053554G>C	ENST00000260645.1	-	6	880	c.741C>G	c.(739-741)ctC>ctG	p.L247L	ABCG5_ENST00000543989.1_Intron|ABCG5_ENST00000405322.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	247	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	GGTGAATGGTGAGAACCACAA	0.542																																																	0													114.0	98.0	104.0					2																	44053554		2203	4300	6503	SO:0001819	synonymous_variant	64240			T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.741C>G	2.37:g.44053554G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L247	ENST00000260645.1	37	c.741	CCDS1814.1	2																																																																																			ABCG5	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.542	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG5	HGNC	protein_coding	OTTHUMT00000250675.1	G	NM_022436		44053554	-1	no_errors	ENST00000260645	ensembl	human	known	70_37	silent	SNP	1.000	C
ACSF2	80221	genome.wustl.edu	37	17	48539018	48539018	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:48539018G>A	ENST00000300441.4	+	4	582	c.478G>A	c.(478-480)Gct>Act	p.A160T	ACSF2_ENST00000502667.1_Splice_Site_p.A147T|ACSF2_ENST00000504392.1_Missense_Mutation_p.A117T|ACSF2_ENST00000427954.2_Missense_Mutation_p.A185T|ACSF2_ENST00000541920.1_5'UTR	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	160					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			AGCCTACCAGGCTATGGAACT	0.627																																																	0													86.0	83.0	84.0					17																	48539018		2203	4300	6503	SO:0001583	missense	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.478G>A	17.37:g.48539018G>A	ENSP00000300441:p.Ala160Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.A160T	ENST00000300441.4	37	c.478	CCDS11567.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.168|8.168	0.791007|0.791007	0.16258|0.16258	.|.	.|.	ENSG00000167107|ENSG00000167107	ENST00000300441;ENST00000504392;ENST00000427954;ENST00000502667|ENST00000506582	T;T;T;T|T	0.56611|0.58940	0.85;0.85;0.85;0.45|0.3	4.97|4.97	1.57|1.57	0.23409|0.23409	AMP-dependent synthetase/ligase (1);|.	0.392363|.	0.28398|.	N|.	0.015486|.	T|T	0.49508|0.49508	0.1561|0.1561	N|N	0.26042|0.26042	0.785|0.785	0.58432|0.58432	D|D	0.999999|0.999999	B;B;B;B|.	0.21452|.	0.031;0.024;0.056;0.031|.	B;B;B;B|.	0.25405|.	0.042;0.06;0.042;0.042|.	T|T	0.47114|0.47114	-0.9142|-0.9142	10|7	0.09084|0.48119	T|T	0.74|0.1	-5.1216|-5.1216	9.9957|9.9957	0.41898|0.41898	0.0:0.1167:0.4196:0.4637|0.0:0.1167:0.4196:0.4637	.|.	147;185;117;160|.	B4DHT5;B4DFQ6;E9PF16;Q96CM8|.	.;.;.;ACSF2_HUMAN|.	T|D	160;117;185;147|132	ENSP00000300441:A160T;ENSP00000425964:A117T;ENSP00000401831:A185T;ENSP00000421884:A147T|ENSP00000424842:G132D	ENSP00000300441:A160T|ENSP00000424842:G132D	A|G	+|+	1|2	0|0	ACSF2|ACSF2	45894017|45894017	0.911000|0.911000	0.30947|0.30947	0.974000|0.974000	0.42286|0.42286	0.939000|0.939000	0.58152|0.58152	0.170000|0.170000	0.16663|0.16663	0.626000|0.626000	0.30322|0.30322	0.655000|0.655000	0.94253|0.94253	GCT|GGC	ACSF2	-	pfam_AMP-dep_Synth/Lig		0.627	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	HGNC	protein_coding	OTTHUMT00000367423.3	G	NM_025149		48539018	+1	no_errors	ENST00000300441	ensembl	human	known	70_37	missense	SNP	0.483	A
ADAM30	11085	genome.wustl.edu	37	1	120438431	120438431	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:120438431C>G	ENST00000369400.1	-	1	687	c.529G>C	c.(529-531)Gat>Cat	p.D177H		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	177					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TCTATTTCATCATCACTTAAG	0.443																																																	0													87.0	85.0	86.0					1																	120438431		2203	4300	6503	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.529G>C	1.37:g.120438431C>G	ENSP00000358407:p.Asp177His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.D177H	ENST00000369400.1	37	c.529	CCDS907.1	1	.	.	.	.	.	.	.	.	.	.	C	10.91	1.484283	0.26598	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.01209	5.17	5.2	-0.593	0.11667	.	0.636430	0.13646	N	0.372604	T	0.00666	0.0022	N	0.19112	0.55	0.09310	N	1	D	0.56287	0.975	P	0.56751	0.805	T	0.55736	-0.8094	10	0.72032	D	0.01	.	6.3966	0.21616	0.0:0.4359:0.3873:0.1769	.	177	Q9UKF2	ADA30_HUMAN	H	177	ENSP00000358407:D177H	ENSP00000358407:D177H	D	-	1	0	ADAM30	120239954	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.246000	0.18160	0.200000	0.20447	-0.253000	0.11424	GAT	ADAM30	-	NULL		0.443	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	HGNC	protein_coding	OTTHUMT00000033678.1	C	NM_021794		120438431	-1	no_errors	ENST00000369400	ensembl	human	known	70_37	missense	SNP	0.000	G
ADAMTS16	170690	genome.wustl.edu	37	5	5182233	5182233	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:5182233G>A	ENST00000274181.7	+	4	716	c.578G>A	c.(577-579)aGa>aAa	p.R193K	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R193K	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	193					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AAACTCGGCAGAGCTGCCCAA	0.522																																																	0													56.0	59.0	58.0					5																	5182233		1876	4108	5984	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.578G>A	5.37:g.5182233G>A	ENSP00000274181:p.Arg193Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R193K	ENST00000274181.7	37	c.578	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	8.607	0.888250	0.17540	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.05447	3.44;3.44	5.37	0.589	0.17452	Peptidase M12B, propeptide (1);	0.721122	0.13531	N	0.380953	T	0.03959	0.0111	L	0.36672	1.1	0.09310	N	1	B;B;B	0.14805	0.011;0.001;0.004	B;B;B	0.19946	0.026;0.016;0.027	T	0.47129	-0.9141	10	0.07175	T	0.84	.	3.1631	0.06527	0.446:0.0:0.3674:0.1866	.	193;193;193	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	K	193	ENSP00000274181:R193K;ENSP00000421631:R193K	ENSP00000274181:R193K	R	+	2	0	ADAMTS16	5235233	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.143000	0.10296	0.169000	0.19679	0.650000	0.86243	AGA	ADAMTS16	-	pfam_Peptidase_M12B_N		0.522	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	G	NM_139056		5182233	+1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	0.000	A
ADRA1D	146	genome.wustl.edu	37	20	4202235	4202235	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr20:4202235C>G	ENST00000379453.4	-	2	1770	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	552				KPPSAFREWRLLGPFRRPTTQLRAKVSSLSHKIRAGGAQRA EAACAQRSEVEAVSLGVPHEVAEGATCQAYELADYSNLRET DI -> SHPAPSASGGCWGRSGDPRPSCAPKSPACRTRSPP GARSAQRQRAPSAQRWRLCP (in Ref. 1). {ECO:0000305}.	adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GTGGCGCCCTCGGCCACCTCG	0.682																																																	0													27.0	30.0	29.0					20																	4202235		2202	4297	6499	SO:0001583	missense	146			U03864	CCDS13079.1	20p13	2012-08-08	2012-05-09		ENSG00000171873	ENSG00000171873		"""GPCR / Class A : Adrenoceptors : alpha"""	280	protein-coding gene	gene with protein product		104219	"""adrenergic, alpha-1D-, receptor"""			8039425	Standard	NM_000678		Approved	ADRA1R, ADRA1A, ADRA1	uc002wkr.2	P25100	OTTHUMG00000031779	ENST00000379453.4:c.1654G>C	20.37:g.4202235C>G	ENSP00000368766:p.Glu552Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NPY0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Adren_rcpt_A1A,prints_GPCR_Rhodpsn,prints_Adrnrgc_rcpt	p.E552Q	ENST00000379453.4	37	c.1654	CCDS13079.1	20	.	.	.	.	.	.	.	.	.	.	C	15.83	2.950452	0.53186	.	.	ENSG00000171873	ENST00000379453	T	0.62364	0.03	3.48	3.48	0.39840	.	151.176000	0.00166	U	0.000000	T	0.72391	0.3454	L	0.50333	1.59	0.20074	N	0.999932	D	0.57571	0.98	P	0.53912	0.737	T	0.60811	-0.7189	10	0.72032	D	0.01	.	12.8115	0.57641	0.0:1.0:0.0:0.0	.	552	P25100	ADA1D_HUMAN	Q	552	ENSP00000368766:E552Q	ENSP00000368766:E552Q	E	-	1	0	ADRA1D	4150235	0.999000	0.42202	0.831000	0.32960	0.420000	0.31355	4.123000	0.57917	1.893000	0.54813	0.305000	0.20034	GAG	ADRA1D	-	prints_Adren_rcpt_A1A		0.682	ADRA1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRA1D	HGNC	protein_coding	OTTHUMT00000077812.2	C	NM_000678		4202235	-1	no_errors	ENST00000379453	ensembl	human	known	70_37	missense	SNP	0.332	G
ADSL	158	genome.wustl.edu	37	22	40745946	40745946	+	Silent	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr22:40745946G>A	ENST00000216194.7	+	2	320	c.264G>A	c.(262-264)gtG>gtA	p.V88V	ADSL_ENST00000454266.2_Silent_p.V88V|ADSL_ENST00000342312.6_Silent_p.V88V	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	88					'de novo' AMP biosynthetic process (GO:0044208)|'de novo' IMP biosynthetic process (GO:0006189)|aerobic respiration (GO:0009060)|AMP biosynthetic process (GO:0006167)|metabolic process (GO:0008152)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity (GO:0070626)|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity (GO:0004018)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GACATGATGTGATGGCTCACG	0.463																																					Colon(4;65 130 1097 1516)												0													171.0	129.0	143.0					22																	40745946		2203	4300	6503	SO:0001819	synonymous_variant	158			X65867	CCDS14001.1, CCDS46714.1	22q13.1	2011-02-17			ENSG00000239900	ENSG00000239900	4.3.2.2		291	protein-coding gene	gene with protein product		608222				8404037	Standard	NM_000026		Approved		uc003ayp.4	P30566	OTTHUMG00000166425	ENST00000216194.7:c.264G>A	22.37:g.40745946G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0QY76|O75495|Q5TI34	Silent	SNP	pfam_Lyase1_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase,prints_D_crystallin,tigrfam_Pur_lyase	p.V88	ENST00000216194.7	37	c.264	CCDS14001.1	22																																																																																			ADSL	-	superfamily_L-Aspartase-like,tigrfam_Pur_lyase		0.463	ADSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADSL	HGNC	protein_coding	OTTHUMT00000321386.1	G	NM_000026		40745946	+1	no_errors	ENST00000454266	ensembl	human	known	70_37	silent	SNP	0.999	A
ALG8	79053	genome.wustl.edu	37	11	77838404	77838404	+	Splice_Site	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:77838404C>T	ENST00000299626.5	-	2	245	c.174G>A	c.(172-174)gaG>gaA	p.E58E	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000376156.3_Splice_Site_p.E58E	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	58					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TAAAACTTACCTCATAATACC	0.333																																																	0													71.0	68.0	69.0					11																	77838404		2200	4292	6492	SO:0001630	splice_region_variant	79053			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.174+1G>A	11.37:g.77838404C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDW6|O60860	Silent	SNP	pfam_Glyco_trans_ALG6/ALG8	p.E58	ENST00000299626.5	37	c.174	CCDS8258.1	11																																																																																			ALG8	-	pfam_Glyco_trans_ALG6/ALG8		0.333	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG8	HGNC	protein_coding	OTTHUMT00000390637.1	C	NM_024079	Silent	77838404	-1	no_errors	ENST00000299626	ensembl	human	known	70_37	silent	SNP	1.000	T
ALOX15B	247	genome.wustl.edu	37	17	7942715	7942715	+	Silent	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:7942715C>T	ENST00000380183.4	+	2	298	c.159C>T	c.(157-159)ttC>ttT	p.F53F	ALOX15B_ENST00000572022.1_Silent_p.F53F|ALOX15B_ENST00000380173.2_Silent_p.F53F|ALOX15B_ENST00000573359.1_Silent_p.F53F	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	53	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						AGGAGGACTTCCAGGTGACGC	0.697																																																	0													25.0	25.0	25.0					17																	7942715		2203	4300	6503	SO:0001819	synonymous_variant	247			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.159C>T	17.37:g.7942715C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.F53	ENST00000380183.4	37	c.159	CCDS11128.1	17																																																																																			ALOX15B	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2		0.697	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15B	HGNC	protein_coding	OTTHUMT00000226985.2	C			7942715	+1	no_errors	ENST00000380183	ensembl	human	known	70_37	silent	SNP	0.964	T
AMOTL2	51421	genome.wustl.edu	37	3	134085180	134085180	+	Silent	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:134085180C>T	ENST00000422605.2	-	4	1297	c.1131G>A	c.(1129-1131)cgG>cgA	p.R377R	AMOTL2_ENST00000514516.1_Silent_p.R435R|AMOTL2_ENST00000513145.1_Silent_p.R377R|AMOTL2_ENST00000249883.5_Silent_p.R377R|AMOTL2_ENST00000511759.1_5'Flank			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	377					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						CCATCTTGTTCCGCATGGTCT	0.567																																																	0													200.0	198.0	199.0					3																	134085180		2203	4300	6503	SO:0001819	synonymous_variant	51421			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.1131G>A	3.37:g.134085180C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Silent	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.R377	ENST00000422605.2	37	c.1131		3																																																																																			AMOTL2	-	prints_Angiomotin		0.567	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1	C	NM_016201		134085180	-1	no_errors	ENST00000249883	ensembl	human	known	70_37	silent	SNP	1.000	T
ANAPC2	29882	genome.wustl.edu	37	9	140082187	140082187	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:140082187G>C	ENST00000323927.2	-	2	490	c.486C>G	c.(484-486)ttC>ttG	p.F162L	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	162					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		GGGTGCTAAAGAACAAGACTC	0.547																																																	0													81.0	83.0	83.0					9																	140082187		2203	4300	6503	SO:0001583	missense	29882			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.486C>G	9.37:g.140082187G>C	ENSP00000314004:p.Phe162Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_APC_su2_C,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology	p.F162L	ENST00000323927.2	37	c.486	CCDS7033.1	9	.	.	.	.	.	.	.	.	.	.	G	0.278	-0.988312	0.02162	.	.	ENSG00000176248	ENST00000323927	T	0.75938	-0.98	4.34	0.343	0.16001	.	0.054287	0.85682	D	0.000000	T	0.54191	0.1843	L	0.37630	1.12	0.41736	D	0.989587	B;B	0.12013	0.003;0.005	B;B	0.13407	0.003;0.009	T	0.45673	-0.9245	10	0.02654	T	1	-25.0573	7.5303	0.27679	0.3997:0.0:0.6003:0.0	.	162;162	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	L	162	ENSP00000314004:F162L	ENSP00000314004:F162L	F	-	3	2	ANAPC2	139202008	1.000000	0.71417	0.991000	0.47740	0.379000	0.30106	2.829000	0.48128	-0.111000	0.12001	0.462000	0.41574	TTC	ANAPC2	-	NULL		0.547	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC2	HGNC	protein_coding	OTTHUMT00000055315.1	G	NM_013366		140082187	-1	no_errors	ENST00000323927	ensembl	human	known	70_37	missense	SNP	1.000	C
ANK3	288	genome.wustl.edu	37	10	61829982	61829982	+	Missense_Mutation	SNP	C	C	T	rs376597004		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:61829982C>T	ENST00000280772.2	-	37	10848	c.10657G>A	c.(10657-10659)Gaa>Aaa	p.E3553K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3553					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCAAAAACTTCATCATCCCCT	0.448																																																	0								C	,,,LYS/GLU	0,4406		0,0,2203	87.0	88.0	88.0		,,,10657	5.8	1.0	10		88	1,8599	1.2+/-3.3	0,1,4299	no	intron,intron,intron,missense	ANK3	NM_001149.3,NM_001204403.1,NM_001204404.1,NM_020987.3	,,,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,benign	,,,3553/4378	61829982	1,13005	2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.10657G>A	10.37:g.61829982C>T	ENSP00000280772:p.Glu3553Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E3553K	ENST00000280772.2	37	c.10657	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	16.78	3.218639	0.58560	0.0	1.16E-4	ENSG00000151150	ENST00000280772	T	0.29397	1.57	5.77	5.77	0.91146	.	0.159645	0.29246	N	0.012720	T	0.31199	0.0789	L	0.38175	1.15	0.80722	D	1	B	0.21606	0.058	B	0.22601	0.04	T	0.05451	-1.0884	10	0.66056	D	0.02	.	19.9837	0.97340	0.0:1.0:0.0:0.0	.	3553	Q12955	ANK3_HUMAN	K	3553	ENSP00000280772:E3553K	ENSP00000280772:E3553K	E	-	1	0	ANK3	61499988	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.920000	0.70017	2.723000	0.93209	0.655000	0.94253	GAA	ANK3	-	NULL		0.448	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61829982	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	T
ANKLE1	126549	genome.wustl.edu	37	19	17397501	17397501	+	3'UTR	SNP	T	T	G	rs71180380|rs563327402|rs534658778|rs1465582	byFrequency	TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:17397501T>G	ENST00000394458.3	+	0	2264				ANKLE1_ENST00000598347.1_Missense_Mutation_p.L591V|ANKLE1_ENST00000594072.1_3'UTR|ANKLE1_ENST00000404085.1_3'UTR	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1											large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						gtgtgtgtgtttgtgtgtgtg	0.532													t|||	1582	0.315895	0.3109	0.2911	5008	,	,		13376	0.1458		0.4414	False		,,,				2504	0.3865																0																																										SO:0001624	3_prime_UTR_variant	126549			AK096688	CCDS12354.2, CCDS12354.3	19p13.11	2013-01-10	2008-03-25	2008-03-25	ENSG00000160117	ENSG00000160117		"""Ankyrin repeat domain containing"""	26812	protein-coding gene	gene with protein product	"""LEM domain containing 6"""		"""ankyrin repeat domain 41"""	ANKRD41			Standard	NM_152363		Approved	FLJ39369, LEMD6	uc002nga.2	Q8NAG6	OTTHUMG00000150839	ENST00000394458.3:c.*140T>G	19.37:g.17397501T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8VU82|Q8N8J8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L591V	ENST00000394458.3	37	c.1771	CCDS12354.2	19																																																																																			ANKLE1	-	NULL		0.532	ANKLE1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE1	HGNC	protein_coding	OTTHUMT00000325392.2	T	NM_152363		17397501	+1	no_errors	ENST00000598347	ensembl	human	putative	70_37	missense	SNP	0.004	G
AP2B1	163	genome.wustl.edu	37	17	33984676	33984676	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:33984676C>T	ENST00000262325.7	+	14	2408	c.1855C>T	c.(1855-1857)Cag>Tag	p.Q619*	AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000589344.1_Nonsense_Mutation_p.Q619*|AP2B1_ENST00000312678.8_Nonsense_Mutation_p.Q619*|AP2B1_ENST00000592545.1_Nonsense_Mutation_p.Q581*|AP2B1_ENST00000538556.1_Nonsense_Mutation_p.Q562*|AP2B1_ENST00000537622.2_Nonsense_Mutation_p.Q619*	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	619	Pro-rich (stalk region).				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGAACAGCCTCAGGTTATCCC	0.498																																																	0													105.0	93.0	97.0					17																	33984676		2203	4300	6503	SO:0001587	stop_gained	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1855C>T	17.37:g.33984676C>T	ENSP00000262325:p.Gln619*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJP3|P21851|Q7Z451|Q96J19	Nonsense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.Q619*	ENST00000262325.7	37	c.1855	CCDS32622.1	17	.	.	.	.	.	.	.	.	.	.	C	41	9.013683	0.99037	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	.	.	.	5.99	5.99	0.97316	.	0.049596	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	6.5594	19.4659	0.94939	0.0:1.0:0.0:0.0	.	.	.	.	X	619;619;562;619;356	.	ENSP00000262325:Q619X	Q	+	1	0	AP2B1	31008789	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.933000	0.56545	2.840000	0.97914	0.655000	0.94253	CAG	AP2B1	-	pirsf_AP_complex_bsu_1_2_4		0.498	AP2B1-001	KNOWN	basic|CCDS	protein_coding	AP2B1	HGNC	protein_coding	OTTHUMT00000448969.1	C			33984676	+1	no_errors	ENST00000312678	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ATP10B	23120	genome.wustl.edu	37	5	160047705	160047705	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:160047705C>T	ENST00000327245.5	-	15	2911	c.2065G>A	c.(2065-2067)Gac>Aac	p.D689N	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	689					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCAGGATGTCGCCCTGGTCC	0.607																																																	0													48.0	51.0	50.0					5																	160047705		2173	4275	6448	SO:0001583	missense	23120			AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.2065G>A	5.37:g.160047705C>T	ENSP00000313600:p.Asp689Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H725	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.D689N	ENST00000327245.5	37	c.2065	CCDS43394.1	5	.	.	.	.	.	.	.	.	.	.	C	13.27	2.186952	0.38609	.	.	ENSG00000118322	ENST00000327245;ENST00000520108	D;D	0.85773	-2.03;-2.03	5.36	4.49	0.54785	HAD-like domain (1);	0.817091	0.11227	N	0.586036	T	0.79335	0.4428	L	0.43152	1.355	0.36663	D	0.878048	P;P	0.46142	0.753;0.873	B;B	0.38296	0.183;0.27	T	0.79550	-0.1757	9	.	.	.	.	12.0559	0.53536	0.0:0.8603:0.0:0.1397	.	297;689	Q2YDW8;O94823	.;AT10B_HUMAN	N	689;297	ENSP00000313600:D689N;ENSP00000431081:D297N	.	D	-	1	0	ATP10B	159980283	0.184000	0.23200	0.879000	0.34478	0.460000	0.32559	0.291000	0.18994	2.523000	0.85059	0.655000	0.94253	GAC	ATP10B	-	superfamily_HAD-like_dom		0.607	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10B	HGNC	protein_coding	OTTHUMT00000374127.1	C	NM_025153		160047705	-1	no_errors	ENST00000327245	ensembl	human	known	70_37	missense	SNP	0.966	T
ATP7A	538	genome.wustl.edu	37	X	77254035	77254035	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:77254035C>T	ENST00000341514.6	+	5	1552	c.1397C>T	c.(1396-1398)tCa>tTa	p.S466L	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.S466L	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	466					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTTTTGACTTCAACTAATGAA	0.403																																																	0													163.0	153.0	156.0					X																	77254035		2203	4296	6499	SO:0001583	missense	538			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1397C>T	X.37:g.77254035C>T	ENSP00000345728:p.Ser466Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.S466L	ENST00000341514.6	37	c.1397	CCDS35339.1	X	.	.	.	.	.	.	.	.	.	.	C	6.783	0.513505	0.12944	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.96491	-4.03;-4.0	5.23	5.23	0.72850	.	0.497486	0.19601	N	0.110400	D	0.91054	0.7185	N	0.24115	0.695	0.09310	N	0.999999	B;B	0.15473	0.002;0.013	B;B	0.15484	0.001;0.013	T	0.81134	-0.1071	10	0.34782	T	0.22	-11.4195	7.5658	0.27879	0.2505:0.6664:0.0:0.0831	.	466;476	Q04656;Q59HD1	ATP7A_HUMAN;.	L	466;466;476	ENSP00000343026:S466L;ENSP00000345728:S466L	ENSP00000345728:S466L	S	+	2	0	ATP7A	77140691	0.192000	0.23301	0.506000	0.27664	0.145000	0.21501	1.516000	0.35856	2.315000	0.78130	0.600000	0.82982	TCA	ATP7A	-	NULL		0.403	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	HGNC	protein_coding	OTTHUMT00000057306.1	C	NM_000052		77254035	+1	no_errors	ENST00000341514	ensembl	human	known	70_37	missense	SNP	0.002	T
BIVM	54841	genome.wustl.edu	37	13	103460047	103460047	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr13:103460047G>C	ENST00000257336.1	+	3	1109	c.430G>C	c.(430-432)Gat>Cat	p.D144H	BIVM-ERCC5_ENST00000602836.1_Nonstop_Mutation_p.*115S|BIVM_ENST00000419638.1_Missense_Mutation_p.D144H|BIVM_ENST00000448849.2_Intron	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	144						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATGGGAAATTGATAAATCTGA	0.393																																																	0													35.0	36.0	36.0					13																	103460047		2202	4297	6499	SO:0001583	missense	54841			AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.430G>C	13.37:g.103460047G>C	ENSP00000257336:p.Asp144His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M1J2|Q9NXM4	Missense_Mutation	SNP	NULL	p.D144H	ENST00000257336.1	37	c.430	CCDS9505.1	13	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339182	0.81911	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000419638;ENST00000418659	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.73094	0.3543	L	0.36672	1.1	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75428	-0.3321	9	0.87932	D	0	.	18.9754	0.92733	0.0:0.0:1.0:0.0	.	115;144	Q59FZ7;Q86UB2	.;BIVM_HUMAN	H	144;144;115	.	ENSP00000257336:D144H	D	+	1	0	ERCC5;BIVM	102258048	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.297000	0.78799	2.717000	0.92951	0.643000	0.83706	GAT	BIVM	-	NULL		0.393	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BIVM	HGNC	protein_coding	OTTHUMT00000045704.2	G			103460047	+1	no_errors	ENST00000257336	ensembl	human	known	70_37	missense	SNP	1.000	C
BRS3	680	genome.wustl.edu	37	X	135574218	135574218	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:135574218C>G	ENST00000370648.3	+	3	1112	c.884C>G	c.(883-885)tCa>tGa	p.S295*		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	295					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CTCTACCATTCATTCACTTCT	0.453																																																	0													255.0	210.0	225.0					X																	135574218		2203	4300	6503	SO:0001587	stop_gained	680				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.884C>G	X.37:g.135574218C>G	ENSP00000359682:p.Ser295*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombesin_rcpt_3,prints_Bombsn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.S295*	ENST00000370648.3	37	c.884	CCDS14656.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.155355	0.97329	.	.	ENSG00000102239	ENST00000370648	.	.	.	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-7.9799	18.67	0.91507	0.0:1.0:0.0:0.0	.	.	.	.	X	295	.	ENSP00000359682:S295X	S	+	2	0	BRS3	135401884	1.000000	0.71417	0.984000	0.44739	0.512000	0.34134	7.445000	0.80570	2.439000	0.82584	0.600000	0.82982	TCA	BRS3	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM		0.453	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRS3	HGNC	protein_coding	OTTHUMT00000059005.1	C	NM_001727		135574218	+1	no_errors	ENST00000370648	ensembl	human	known	70_37	nonsense	SNP	1.000	G
BTLA	151888	genome.wustl.edu	37	3	112198418	112198418	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:112198418G>A	ENST00000334529.5	-	2	489	c.287C>T	c.(286-288)tCa>tTa	p.S96L	BTLA_ENST00000383680.4_Missense_Mutation_p.S96L	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	96	Ig-like V-type.				immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				AATGAAAAATGAAATGTTCTT	0.388																																																	0													180.0	174.0	176.0					3																	112198418		2203	4300	6503	SO:0001583	missense	151888			AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.287C>T	3.37:g.112198418G>A	ENSP00000333919:p.Ser96Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3B831|Q3HS85|Q6ZNH9	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.S96L	ENST00000334529.5	37	c.287	CCDS33819.1	3	.	.	.	.	.	.	.	.	.	.	G	10.04	1.240642	0.22711	.	.	ENSG00000186265	ENST00000334529;ENST00000383680	T;T	0.42131	0.98;0.98	3.42	3.42	0.39159	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.433846	0.17120	N	0.186255	T	0.51244	0.1663	L	0.38838	1.175	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.977;0.996	T	0.28267	-1.0049	10	0.54805	T	0.06	-1.9519	10.6316	0.45541	0.0:0.0:1.0:0.0	.	96;96	Q7Z6A9-2;Q7Z6A9	.;BTLA_HUMAN	L	96	ENSP00000333919:S96L;ENSP00000373178:S96L	ENSP00000333919:S96L	S	-	2	0	BTLA	113681108	0.006000	0.16342	0.012000	0.15200	0.074000	0.17049	0.812000	0.27211	2.214000	0.71695	0.655000	0.94253	TCA	BTLA	-	smart_Ig_sub,pfscan_Ig-like		0.388	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTLA	HGNC	protein_coding	OTTHUMT00000354101.1	G	NM_181780		112198418	-1	no_errors	ENST00000334529	ensembl	human	known	70_37	missense	SNP	0.013	A
BZRAP1	9256	genome.wustl.edu	37	17	56385241	56385241	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:56385241C>G	ENST00000343736.4	-	23	4956	c.4793G>C	c.(4792-4794)aGa>aCa	p.R1598T	BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1538T|BZRAP1_ENST00000355701.3_Missense_Mutation_p.R1598T			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1598						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGGACACCTCTCTTCTGGGG	0.632																																																	0													60.0	52.0	55.0					17																	56385241		2203	4300	6503	SO:0001583	missense	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.4793G>C	17.37:g.56385241C>G	ENSP00000345824:p.Arg1598Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.R1598T	ENST00000343736.4	37	c.4793	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	C	12.06	1.825071	0.32237	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04970	3.53;3.52;3.53	5.76	1.61	0.23674	.	0.481376	0.23474	N	0.047795	T	0.04543	0.0124	L	0.27053	0.805	0.32637	N	0.521232	B;B;B	0.32753	0.361;0.383;0.22	B;B;B	0.33042	0.157;0.124;0.039	T	0.21518	-1.0243	10	0.44086	T	0.13	.	6.9485	0.24532	0.0:0.5985:0.0:0.4015	.	1598;1538;1598	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	T	1598;1598;1538	ENSP00000347929:R1598T;ENSP00000345824:R1598T;ENSP00000268893:R1538T	ENSP00000268893:R1538T	R	-	2	0	BZRAP1	53740240	0.001000	0.12720	1.000000	0.80357	0.453000	0.32348	-0.549000	0.06041	0.799000	0.34018	0.563000	0.77884	AGA	BZRAP1	-	NULL		0.632	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	C	NM_004758		56385241	-1	no_errors	ENST00000355701	ensembl	human	known	70_37	missense	SNP	0.996	G
ADIRF	10974	genome.wustl.edu	37	10	88729960	88729960	+	Missense_Mutation	SNP	C	C	T	rs143202580		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:88729960C>T	ENST00000372013.3	+	2	418	c.65C>T	c.(64-66)tCa>tTa	p.S22L	ADIRF-AS1_ENST00000440490.1_RNA|RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.15_ENST00000609363.1_RNA|ADIRF-AS1_ENST00000418273.2_RNA|ADIRF-AS1_ENST00000609111.1_RNA	NM_006829.2	NP_006820.1	Q15847	ADIRF_HUMAN	adipogenesis regulatory factor	22					cell differentiation (GO:0030154)|cellular response to cisplatin (GO:0072719)|cellular response to radiation (GO:0071478)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of response to drug (GO:2001023)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)											GTTCCAGTGTCAGCGGCCGGA	0.637																																																	0								C	LEU/SER	1,4357		0,1,2178	23.0	28.0	26.0		65	2.8	0.3	10	dbSNP_134	26	0,8510		0,0,4255	no	missense	C10orf116	NM_006829.2	145	0,1,6433	TT,TC,CC		0.0,0.0229,0.0078	benign	22/77	88729960	1,12867	2179	4255	6434	SO:0001583	missense	10974			BC004471	CCDS7381.1	10q23.31	2013-02-20	2013-02-20	2013-02-20	ENSG00000148671	ENSG00000148671			24043	protein-coding gene	gene with protein product	"""adipose specific 2"", ""adipose most abundant gene transcript 2"", ""adipogenesis factor rich in obesity"""		"""chromosome 10 open reading frame 116"""	C10orf116		8619847, 23239344	Standard	NM_006829		Approved	APM2, AFRO	uc001ked.2	Q15847	OTTHUMG00000018668	ENST00000372013.3:c.65C>T	10.37:g.88729960C>T	ENSP00000361083:p.Ser22Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S22L	ENST00000372013.3	37	c.65	CCDS7381.1	10	.	.	.	.	.	.	.	.	.	.	C	13.57	2.275735	0.40294	2.29E-4	0.0	ENSG00000148671	ENST00000372013	.	.	.	3.82	2.83	0.33086	.	0.894402	0.09090	U	0.849940	T	0.33294	0.0858	.	.	.	0.09310	N	1	B	0.19200	0.034	B	0.19946	0.027	T	0.22871	-1.0204	8	0.59425	D	0.04	.	9.0104	0.36137	0.219:0.781:0.0:0.0	.	22	Q15847	APM2_HUMAN	L	22	.	ENSP00000361083:S22L	S	+	2	0	C10orf116	88719940	0.001000	0.12720	0.260000	0.24451	0.400000	0.30750	-0.133000	0.10451	1.847000	0.53656	0.561000	0.74099	TCA	C10orf116	-	NULL		0.637	ADIRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf116	HGNC	protein_coding	OTTHUMT00000049194.1	C	NM_006829		88729960	+1	no_errors	ENST00000372013	ensembl	human	known	70_37	missense	SNP	0.104	T
C11orf30	56946	genome.wustl.edu	37	11	76207494	76207494	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:76207494C>G	ENST00000529032.1	+	8	1344	c.1344C>G	c.(1342-1344)atC>atG	p.I448M	C11orf30_ENST00000524767.1_Missense_Mutation_p.I463M|C11orf30_ENST00000525919.1_Missense_Mutation_p.I449M|C11orf30_ENST00000524490.1_Intron|C11orf30_ENST00000525038.1_Missense_Mutation_p.I463M|C11orf30_ENST00000334736.3_Missense_Mutation_p.I448M|C11orf30_ENST00000343878.3_Missense_Mutation_p.I448M|C11orf30_ENST00000533248.1_Missense_Mutation_p.I462M			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	448	Gln-rich.|Interaction with BRCA2.				chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						AACCTACCATCCAAATCAAAC	0.428																																																	0													105.0	103.0	103.0					11																	76207494		2200	4292	6492	SO:0001583	missense	56946			AF226047	CCDS8244.1, CCDS73349.1, CCDS73350.1, CCDS73351.1	11q13.5	2010-07-01			ENSG00000158636	ENSG00000158636			18071	protein-coding gene	gene with protein product		608574					Standard	XM_005274106		Approved	EMSY	uc001oxl.3	Q7Z589	OTTHUMG00000165282	ENST00000529032.1:c.1344C>G	11.37:g.76207494C>G	ENSP00000432327:p.Ile448Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKT8|B7ZKU0|B7ZKU2|Q17RM7|Q4G109|Q8NBU6|Q8TE50|Q9H8I9|Q9NRH0	Missense_Mutation	SNP	pfam_ENT_N,pfscan_ENT_N	p.I448M	ENST00000529032.1	37	c.1344	CCDS8244.1	11	.	.	.	.	.	.	.	.	.	.	C	12.98	2.101776	0.37048	.	.	ENSG00000158636	ENST00000334736;ENST00000343878;ENST00000393457;ENST00000524767;ENST00000533248;ENST00000525919;ENST00000525038;ENST00000529032	.	.	.	5.69	4.72	0.59763	.	0.151158	0.64402	D	0.000020	T	0.53818	0.1820	L	0.29908	0.895	0.47737	D	0.999504	D;D;D;D;D;D;D	0.76494	0.995;0.995;0.995;0.999;0.999;0.998;0.998	D;D;D;D;D;D;D	0.83275	0.986;0.986;0.986;0.996;0.996;0.991;0.991	T	0.55866	-0.8073	9	0.39692	T	0.17	-7.4121	3.4759	0.07585	0.1979:0.5453:0.0:0.2568	.	462;463;463;448;398;449;448	B7ZKT8;B7ZKU2;B7ZKU0;Q7Z589-2;F5H2F0;Q17RM7;Q7Z589	.;.;.;.;.;.;EMSY_HUMAN	M	448;448;398;463;462;449;463;448	.	ENSP00000334130:I448M	I	+	3	3	C11orf30	75885142	0.990000	0.36364	1.000000	0.80357	0.991000	0.79684	0.187000	0.16998	1.231000	0.43661	0.462000	0.41574	ATC	C11orf30	-	NULL		0.428	C11orf30-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	C11orf30	HGNC	protein_coding	OTTHUMT00000383288.2	C	NM_020193		76207494	+1	no_errors	ENST00000334736	ensembl	human	known	70_37	missense	SNP	1.000	G
C19orf26	255057	genome.wustl.edu	37	19	1234584	1234584	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:1234584G>C	ENST00000382477.2	-	6	947	c.673C>G	c.(673-675)Ctg>Gtg	p.L225V	C19orf26_ENST00000590083.1_Missense_Mutation_p.L205V|C19orf26_ENST00000215376.6_Missense_Mutation_p.L199V			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	225						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		AAGATGGCCAGAGTGGCCTTG	0.697										HNSCC(14;0.022)																																							0													41.0	38.0	39.0					19																	1234584		2189	4293	6482	SO:0001583	missense	255057			BC028156	CCDS12057.1, CCDS12057.2	19p13.3	2012-10-24			ENSG00000099625	ENSG00000099625			28617	protein-coding gene	gene with protein product	"""downstream of STK11"""					12477932	Standard	NM_152769		Approved	MGC40084, DOS	uc002lrm.3	Q8N350	OTTHUMG00000180141	ENST00000382477.2:c.673C>G	19.37:g.1234584G>C	ENSP00000371917:p.Leu225Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O43385	Missense_Mutation	SNP	NULL	p.L225V	ENST00000382477.2	37	c.673		19	.	.	.	.	.	.	.	.	.	.	G	9.588	1.125468	0.20959	.	.	ENSG00000099625	ENST00000382477;ENST00000215376	.	.	.	3.06	0.0876	0.14451	.	0.097154	0.42682	D	0.000669	T	0.30854	0.0778	N	0.20986	0.625	0.38273	D	0.942199	P	0.46142	0.873	B	0.42555	0.391	T	0.10291	-1.0636	9	0.51188	T	0.08	.	8.1473	0.31119	0.3023:0.0:0.6977:0.0	.	199	Q8N350-2	.	V	225;199	.	ENSP00000215376:L199V	L	-	1	2	C19orf26	1185584	1.000000	0.71417	0.603000	0.28903	0.017000	0.09413	2.797000	0.47877	-0.332000	0.08489	-1.134000	0.01955	CTG	C19orf26	-	NULL		0.697	C19orf26-202	KNOWN	basic|appris_candidate_longest	protein_coding	C19orf26	HGNC	protein_coding		G	NM_152769		1234584	-1	no_errors	ENST00000382477	ensembl	human	known	70_37	missense	SNP	0.795	C
C9orf69	90120	genome.wustl.edu	37	9	139008588	139008588	+	Silent	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:139008588G>A	ENST00000418388.1	-	2	661	c.159C>T	c.(157-159)ttC>ttT	p.F53F	C9orf69_ENST00000561457.1_Missense_Mutation_p.S78L			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	53					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of viral process (GO:0048524)|viral process (GO:0016032)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)			endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GGAAGCGGATGAAGCCGTACA	0.647																																																	0													74.0	93.0	87.0					9																	139008588		2122	4229	6351	SO:0001819	synonymous_variant	90120				CCDS59155.1	9q34.3	2012-11-26	2012-07-05	2012-07-05	ENSG00000238227	ENSG00000238227			31009	protein-coding gene	gene with protein product						21667337	Standard	NM_152833		Approved	bA83N9.1	uc004cgx.5	H0YL14	OTTHUMG00000020922	ENST00000418388.1:c.159C>T	9.37:g.139008588G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S78L	ENST00000418388.1	37	c.233	CCDS59155.1	9																																																																																			C9orf69	-	NULL		0.647	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C9orf69	HGNC	protein_coding	OTTHUMT00000055043.3	G	NM_152833		139008588	-1	no_errors	ENST00000561457	ensembl	human	known	70_37	missense	SNP	1.000	A
C9orf69	90120	genome.wustl.edu	37	9	139008612	139008612	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:139008612G>C	ENST00000418388.1	-	2	637	c.135C>G	c.(133-135)atC>atG	p.I45M	C9orf69_ENST00000561457.1_Nonsense_Mutation_p.S70*			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	45					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of viral process (GO:0048524)|viral process (GO:0016032)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)			endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		AGCGCGTCTTGATGTACACGT	0.657																																																	0													75.0	92.0	86.0					9																	139008612		2106	4217	6323	SO:0001583	missense	90120				CCDS59155.1	9q34.3	2012-11-26	2012-07-05	2012-07-05	ENSG00000238227	ENSG00000238227			31009	protein-coding gene	gene with protein product						21667337	Standard	NM_152833		Approved	bA83N9.1	uc004cgx.5	H0YL14	OTTHUMG00000020922	ENST00000418388.1:c.135C>G	9.37:g.139008612G>C	ENSP00000453019:p.Ile45Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	NULL	p.S70*	ENST00000418388.1	37	c.209	CCDS59155.1	9																																																																																			C9orf69	-	NULL		0.657	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C9orf69	HGNC	protein_coding	OTTHUMT00000055043.3	G	NM_152833		139008612	-1	no_errors	ENST00000561457	ensembl	human	known	70_37	nonsense	SNP	0.997	C
CACHD1	57685	genome.wustl.edu	37	1	65146977	65146977	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:65146977G>A	ENST00000371073.2	+	25	3443	c.3443G>A	c.(3442-3444)aGa>aAa	p.R1148K	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.R1097K			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1148					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GAGAATGACAGAGATGAAAGG	0.428																																																	0													157.0	145.0	149.0					1																	65146977		2203	4300	6503	SO:0001583	missense	57685			AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.3443G>A	1.37:g.65146977G>A	ENSP00000360113:p.Arg1148Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A	p.R1148K	ENST00000371073.2	37	c.3443		1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808390	0.90707	.	.	ENSG00000158966	ENST00000371073;ENST00000290039	T;T	0.21932	1.98;1.99	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.21103	0.0508	L	0.29908	0.895	0.80722	D	1	P	0.44690	0.841	P	0.57204	0.815	T	0.01635	-1.1307	10	0.21014	T	0.42	-21.8516	19.7173	0.96127	0.0:0.0:1.0:0.0	.	1148	Q5VU97	CAHD1_HUMAN	K	1148;1097	ENSP00000360113:R1148K;ENSP00000290039:R1097K	ENSP00000290039:R1097K	R	+	2	0	CACHD1	64919565	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.388000	0.97237	2.724000	0.93272	0.563000	0.77884	AGA	CACHD1	-	NULL		0.428	CACHD1-201	KNOWN	basic	protein_coding	CACHD1	HGNC	protein_coding		G	NM_020925		65146977	+1	no_errors	ENST00000371073	ensembl	human	known	70_37	missense	SNP	1.000	A
CACNA1C	775	genome.wustl.edu	37	12	2690805	2690805	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:2690805C>T	ENST00000347598.4	+	14	1945	c.1945C>T	c.(1945-1947)Cgc>Tgc	p.R649C	CACNA1C_ENST00000399649.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R649C|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R674C|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R649C|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R649C|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R649C|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R649C|CACNA1C_ENST00000480911.1_Missense_Mutation_p.R649C	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	649					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.R649C(3)|p.R184C(1)|p.R679C(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GAACTCTGTGCGCTCCATCGC	0.552																																																	5	Substitution - Missense(5)	endometrium(5)											115.0	118.0	117.0					12																	2690805		2202	4298	6500	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.1945C>T	12.37:g.2690805C>T	ENSP00000266376:p.Arg649Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R649C	ENST00000347598.4	37	c.1945	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	C	29.0	4.969350	0.92855	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000480911;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5	4.41	4.41	0.53225	Ion transport (1);	0.114674	0.64402	D	0.000009	D	0.98795	0.9594	M	0.88031	2.925	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.997;1.0;1.0;0.999;1.0;0.998;0.999;1.0;0.999;0.984;0.993;1.0;0.997;0.987;1.0;1.0;1.0;0.999;1.0;1.0;0.999;0.999;0.999	P;P;P;P;D;P;D;D;D;D;P;P;P;D;P;P;D;D;D;P;D;D;P;P;P	0.68943	0.862;0.804;0.893;0.899;0.949;0.804;0.949;0.961;0.921;0.949;0.804;0.828;0.768;0.938;0.851;0.629;0.947;0.949;0.921;0.804;0.949;0.949;0.804;0.83;0.804	D	0.99690	1.1001	10	0.87932	D	0	.	17.5297	0.87810	0.0:1.0:0.0:0.0	.	649;646;649;649;649;649;649;649;649;649;649;620;649;649;649;649;649;649;649;649;649;649;649;649;649	Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;F5H638;Q13936-12	.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	C	674;649;649;649;649;649;649;649;649;649;649;649;649;649;649;649;649;649;649;649;649;649;649;490	ENSP00000336982:R674C;ENSP00000382563:R649C;ENSP00000437936:R649C;ENSP00000382552:R649C;ENSP00000382547:R649C;ENSP00000382506:R649C;ENSP00000382530:R649C;ENSP00000382546:R649C;ENSP00000382500:R649C;ENSP00000382549:R649C;ENSP00000266376:R649C;ENSP00000382515:R649C;ENSP00000382510:R649C;ENSP00000341092:R649C;ENSP00000382537:R649C;ENSP00000329877:R649C;ENSP00000382557:R649C;ENSP00000385724:R649C;ENSP00000382512:R649C;ENSP00000382542:R649C;ENSP00000382526:R649C;ENSP00000385896:R649C;ENSP00000382504:R649C	ENSP00000323129:R490C	R	+	1	0	CACNA1C	2561066	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.552000	0.60747	2.443000	0.82685	0.491000	0.48974	CGC	CACNA1C	-	pfam_Ion_trans_dom		0.552	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	C	NM_000719		2690805	+1	no_errors	ENST00000399634	ensembl	human	known	70_37	missense	SNP	1.000	T
CAPRIN1	4076	genome.wustl.edu	37	11	34117896	34117896	+	Intron	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:34117896C>T	ENST00000341394.4	+	16	1894				CAPRIN1_ENST00000389645.3_Intron|CAPRIN1_ENST00000533657.1_Intron|CAPRIN1_ENST00000529307.1_Intron|CAPRIN1_ENST00000530820.1_Intron|CAPRIN1_ENST00000532820.1_Intron	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1						negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TTTTTCTTATCATTGTATGCA	0.358																																																	0																																										SO:0001627	intron_variant	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.1706-130C>T	11.37:g.34117896C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	RNA	SNP	-	NULL	ENST00000341394.4	37	NULL	CCDS31453.1	11																																																																																			CAPRIN1	-	-		0.358	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	C	NM_005898		34117896	+1	no_errors	ENST00000533562	ensembl	human	putative	70_37	rna	SNP	0.000	T
CC2D2A	57545	genome.wustl.edu	37	4	15597793	15597793	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:15597793C>G	ENST00000503292.1	+	35	4580	c.4400C>G	c.(4399-4401)tCa>tGa	p.S1467*	CC2D2A_ENST00000424120.1_Nonsense_Mutation_p.S1467*|CC2D2A_ENST00000389652.5_Nonsense_Mutation_p.S1359*|CC2D2A_ENST00000413206.1_Nonsense_Mutation_p.S1467*	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	1467					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						TCTTTCTTTTCAAGAAGCCTT	0.333																																																	0													49.0	45.0	47.0					4																	15597793		1775	3996	5771	SO:0001587	stop_gained	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.4400C>G	4.37:g.15597793C>G	ENSP00000421809:p.Ser1467*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Nonsense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.S1467*	ENST00000503292.1	37	c.4400	CCDS47026.1	4	.	.	.	.	.	.	.	.	.	.	C	46	12.256952	0.99651	.	.	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	.	.	.	5.69	5.69	0.88448	.	0.135253	0.52532	D	0.000067	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.7919	0.96463	0.0:1.0:0.0:0.0	.	.	.	.	X	1467;1467;1359;1359;1467;1359	.	ENSP00000374303:S1359X	S	+	2	0	CC2D2A	15206891	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.237000	0.78164	2.682000	0.91365	0.585000	0.79938	TCA	CC2D2A	-	NULL		0.333	CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CC2D2A	HGNC	protein_coding	OTTHUMT00000359906.2	C	NM_001080522		15597793	+1	no_errors	ENST00000413206	ensembl	human	known	70_37	nonsense	SNP	1.000	G
CCAR1	55749	genome.wustl.edu	37	10	70507287	70507287	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:70507287C>T	ENST00000265872.6	+	8	909	c.790C>T	c.(790-792)Caa>Taa	p.Q264*	CCAR1_ENST00000535016.1_Nonsense_Mutation_p.Q249*|CCAR1_ENST00000543719.1_Nonsense_Mutation_p.Q249*	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	264					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ATTGCAGACTCAACCACAGCC	0.433																																																	0													137.0	134.0	135.0					10																	70507287		2203	4300	6503	SO:0001587	stop_gained	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.790C>T	10.37:g.70507287C>T	ENSP00000265872:p.Gln264*	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Nonsense_Mutation	SNP	pfam_SAP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.Q264*	ENST00000265872.6	37	c.790	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662865	0.88251	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543225;ENST00000536012;ENST00000540807	.	.	.	5.06	5.06	0.68205	.	0.060127	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-7.9331	18.781	0.91932	0.0:1.0:0.0:0.0	.	.	.	.	X	264;249;249;249;238;69;69	.	ENSP00000265872:Q264X	Q	+	1	0	CCAR1	70177293	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.044000	0.76578	2.526000	0.85167	0.655000	0.94253	CAA	CCAR1	-	NULL		0.433	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	C	NM_018237		70507287	+1	no_errors	ENST00000265872	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CCDC144A	9720	genome.wustl.edu	37	17	16638763	16638763	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:16638763C>T	ENST00000360524.8	+	12	3254	c.3178C>T	c.(3178-3180)Cac>Tac	p.H1060Y	CCDC144A_ENST00000399273.1_Missense_Mutation_p.H1060Y|CCDC144A_ENST00000456009.1_Missense_Mutation_p.H780Y|CCDC144A_ENST00000443444.2_Missense_Mutation_p.H1060Y|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.H1060Y	NM_014695.1	NP_055510.1	A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1060																	GGATGATGCTCACAAGAAAGC	0.393																																																	0													42.0	40.0	41.0					17																	16638763		1849	4095	5944	SO:0001583	missense	9720			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000360524.8:c.3178C>T	17.37:g.16638763C>T	ENSP00000353717:p.His1060Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O60311|Q6ZU57	Missense_Mutation	SNP	pfam_DUF3496	p.H1060Y	ENST00000360524.8	37	c.3178	CCDS45621.1	17	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.246430	0.00271	.	.	ENSG00000170160	ENST00000399273;ENST00000443444;ENST00000360524;ENST00000456009	T;T;T;T	0.14022	2.54;2.54;2.54;2.54	2.08	-0.269	0.12930	.	.	.	.	.	T	0.06508	0.0167	N	0.16656	0.425	0.09310	N	1	B;B	0.21520	0.057;0.033	B;B	0.29267	0.1;0.035	T	0.44345	-0.9334	9	0.15499	T	0.54	.	1.0074	0.01490	0.2294:0.3898:0.2261:0.1548	.	780;1060	A2RUR9-3;A2RUR9	.;C144A_HUMAN	Y	1060;1060;1060;780	ENSP00000382215:H1060Y;ENSP00000439262:H1060Y;ENSP00000353717:H1060Y;ENSP00000394201:H780Y	ENSP00000353717:H1060Y	H	+	1	0	CCDC144A	16579488	0.000000	0.05858	0.003000	0.11579	0.015000	0.08874	0.223000	0.17719	-0.178000	0.10672	-0.751000	0.03497	CAC	CCDC144A	-	NULL		0.393	CCDC144A-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC144A	HGNC	protein_coding	OTTHUMT00000444093.1	C			16638763	+1	no_errors	ENST00000360524	ensembl	human	known	70_37	missense	SNP	0.262	T
CCDC153	283152	genome.wustl.edu	37	11	119063888	119063888	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:119063888C>T	ENST00000503566.2	-	4	321	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K	CCDC153_ENST00000415318.1_Missense_Mutation_p.E108K			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	108										lung(3)|stomach(1)	4						CCTTTGACTTCTTCCTCCAGC	0.617																																																	0													91.0	88.0	89.0					11																	119063888		2199	4295	6494	SO:0001583	missense	283152				CCDS44753.1	11q23.3	2011-07-22			ENSG00000248712	ENSG00000248712			27446	protein-coding gene	gene with protein product						12477932	Standard	NM_001145018		Approved	LOC283152	uc010rze.2	Q494R4	OTTHUMG00000156903	ENST00000503566.2:c.322G>A	11.37:g.119063888C>T	ENSP00000423567:p.Glu108Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_t-SNARE	p.E108K	ENST00000503566.2	37	c.322	CCDS44753.1	11	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471320	0.43942	.	.	ENSG00000248712	ENST00000503566;ENST00000415318	T;T	0.29397	1.57;1.57	4.58	2.56	0.30785	.	0.190642	0.35677	N	0.003046	T	0.26738	0.0654	M	0.63428	1.95	0.28619	N	0.908288	B	0.27932	0.194	B	0.26864	0.074	T	0.14952	-1.0454	10	0.37606	T	0.19	-9.582	6.538	0.22365	0.0:0.5428:0.3599:0.0972	.	108	Q494R4	CC153_HUMAN	K	108	ENSP00000423567:E108K;ENSP00000445431:E108K	ENSP00000445431:E108K	E	-	1	0	CCDC153	118569098	0.566000	0.26618	0.403000	0.26384	0.570000	0.35934	0.830000	0.27462	0.573000	0.29400	0.561000	0.74099	GAA	CCDC153	-	superfamily_t-SNARE		0.617	CCDC153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC153	HGNC	protein_coding	OTTHUMT00000388331.2	C	NM_001033658		119063888	-1	no_errors	ENST00000415318	ensembl	human	known	70_37	missense	SNP	0.889	T
CCDC3	83643	genome.wustl.edu	37	10	13040405	13040405	+	Nonsense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:13040405G>C	ENST00000378825.3	-	2	608	c.482C>G	c.(481-483)tCa>tGa	p.S161*	CCDC3_ENST00000378839.1_Nonsense_Mutation_p.S36*	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	161						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			CGAACAGTTTGAAAACTGGAA	0.458																																																	0													108.0	98.0	101.0					10																	13040405		2203	4300	6503	SO:0001587	stop_gained	83643			BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.482C>G	10.37:g.13040405G>C	ENSP00000368102:p.Ser161*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYV8|Q5VYV9	Nonsense_Mutation	SNP	NULL	p.S161*	ENST00000378825.3	37	c.482	CCDS7093.1	10	.	.	.	.	.	.	.	.	.	.	G	39	7.311747	0.98203	.	.	ENSG00000151468	ENST00000378839;ENST00000378825	.	.	.	4.92	4.92	0.64577	.	0.116551	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-28.6593	17.4933	0.87710	0.0:0.0:1.0:0.0	.	.	.	.	X	36;161	.	ENSP00000368102:S161X	S	-	2	0	CCDC3	13080411	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	9.341000	0.97041	2.433000	0.82419	0.462000	0.41574	TCA	CCDC3	-	NULL		0.458	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC3	HGNC	protein_coding	OTTHUMT00000046829.1	G	NM_031455		13040405	-1	no_errors	ENST00000378825	ensembl	human	known	70_37	nonsense	SNP	1.000	C
CYP11A1	1583	genome.wustl.edu	37	15	74627326	74627326	+	IGR	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr15:74627326C>T	ENST00000268053.6	-	0	1934				CCDC33_ENST00000398814.3_Missense_Mutation_p.S679L|CCDC33_ENST00000321288.5_Missense_Mutation_p.S916L|CCDC33_ENST00000558821.1_Missense_Mutation_p.S272L|CCDC33_ENST00000268082.4_Missense_Mutation_p.S306L	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						biphenyl metabolic process (GO:0018879)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cerebellum development (GO:0021549)|cholesterol metabolic process (GO:0008203)|dibenzo-p-dioxin metabolic process (GO:0018894)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|granulosa cell differentiation (GO:0060014)|hippocampus development (GO:0021766)|Leydig cell differentiation (GO:0033327)|maternal process involved in female pregnancy (GO:0060135)|mating behavior (GO:0007617)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|progesterone biosynthetic process (GO:0006701)|response to alkaloid (GO:0043279)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to gamma radiation (GO:0010332)|response to genistein (GO:0033595)|response to hydrogen peroxide (GO:0042542)|response to insecticide (GO:0017085)|response to L-ascorbic acid (GO:0033591)|response to salt stress (GO:0009651)|response to vitamin E (GO:0033197)|Schwann cell differentiation (GO:0014037)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|testosterone biosynthetic process (GO:0061370)|vitamin D metabolic process (GO:0042359)|xenobiotic metabolic process (GO:0006805)	mitochondrial crista (GO:0030061)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|perikaryon (GO:0043204)	cholesterol binding (GO:0015485)|cholesterol monooxygenase (side-chain-cleaving) activity (GO:0008386)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Clomifene(DB00882)|Clotrimazole(DB00257)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Glutethimide(DB01437)|Ketoconazole(DB01026)|Omeprazole(DB00338)|Saquinavir(DB01232)|Terbinafine(DB00857)|Testosterone(DB00624)	TTAGAGGACTCAGCTCGACGC	0.577																																					Esophageal Squamous(87;818 1337 4093 9268 37314)												0													83.0	87.0	86.0					15																	74627326		2036	4178	6214	SO:0001628	intergenic_variant	80125			AK056794	CCDS32291.1, CCDS45303.1	15q23-q24	2010-05-04	2003-01-14	2003-01-17	ENSG00000140459	ENSG00000140459	1.14.15.6	"""Cytochrome P450s"""	2590	protein-coding gene	gene with protein product	"""cholesterol monooxygenase (side-chain-cleaving)"""	118485	"""cytochrome P450, subfamily XIA (cholesterol side chain cleavage)"""	CYP11A			Standard	NM_000781		Approved	P450SCC	uc002axt.2	P05108	OTTHUMG00000150716		15.37:g.74627326C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8D5|B3KPU8|G3XAD7|Q15081|Q16805|Q8N1A7	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.S916L	ENST00000268053.6	37	c.2747	CCDS32291.1	15	.	.	.	.	.	.	.	.	.	.	C	26.0	4.698531	0.88830	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.27557	1.69;1.95;1.66;1.66	4.92	4.92	0.64577	.	0.183945	0.37304	N	0.002146	T	0.59115	0.2170	M	0.79805	2.47	0.48632	D	0.999685	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.85130	0.997;0.997;0.991;0.996	T	0.65475	-0.6159	10	0.72032	D	0.01	.	16.8924	0.86091	0.0:1.0:0.0:0.0	.	272;306;916;679	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	L	916;679;272;306	ENSP00000325012:S916L;ENSP00000381795:S679L;ENSP00000325661:S272L;ENSP00000268082:S306L	ENSP00000268082:S306L	S	+	2	0	CCDC33	72414379	0.996000	0.38824	1.000000	0.80357	0.972000	0.66771	3.072000	0.50049	2.274000	0.75844	0.478000	0.44815	TCA	CCDC33	-	NULL		0.577	CYP11A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000319737.1	C			74627326	+1	no_errors	ENST00000321288	ensembl	human	known	70_37	missense	SNP	1.000	T
CCDC42	146849	genome.wustl.edu	37	17	8638461	8638461	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:8638461C>T	ENST00000293845.3	-	6	1052	c.826G>A	c.(826-828)Gag>Aag	p.E276K	CCDC42_ENST00000539522.2_Missense_Mutation_p.E202K	NM_144681.2	NP_653282.2	Q96M95	CCD42_HUMAN	coiled-coil domain containing 42	276										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						TCAGTCACCTCCTTCAGGTGC	0.622																																																	0													118.0	97.0	104.0					17																	8638461		2203	4300	6503	SO:0001583	missense	146849			AK057296	CCDS11145.1, CCDS54088.1	17p13.1	2012-05-28			ENSG00000161973	ENSG00000161973			26528	protein-coding gene	gene with protein product							Standard	NM_144681		Approved	FLJ32734, CCDC42A	uc002gln.3	Q96M95		ENST00000293845.3:c.826G>A	17.37:g.8638461C>T	ENSP00000293845:p.Glu276Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N6Q0	Missense_Mutation	SNP	NULL	p.E276K	ENST00000293845.3	37	c.826	CCDS11145.1	17	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445320	0.43429	.	.	ENSG00000161973	ENST00000293845;ENST00000539522	T;T	0.24151	1.92;1.87	5.11	5.11	0.69529	.	0.322845	0.26738	N	0.022751	T	0.18509	0.0444	L	0.36672	1.1	0.27170	N	0.96094	B	0.24483	0.104	B	0.25140	0.058	T	0.18935	-1.0321	10	0.06099	T	0.92	-27.9384	13.2232	0.59901	0.0:0.8398:0.1602:0.0	.	276	Q96M95	CCD42_HUMAN	K	276;202	ENSP00000293845:E276K;ENSP00000444359:E202K	ENSP00000293845:E276K	E	-	1	0	CCDC42	8579186	0.596000	0.26866	0.997000	0.53966	0.483000	0.33249	1.445000	0.35079	2.666000	0.90696	0.655000	0.94253	GAG	CCDC42	-	NULL		0.622	CCDC42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC42	HGNC	protein_coding	OTTHUMT00000442491.1	C	NM_144681		8638461	-1	no_errors	ENST00000293845	ensembl	human	known	70_37	missense	SNP	0.997	T
CCIN	881	genome.wustl.edu	37	9	36170051	36170051	+	Silent	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:36170051C>G	ENST00000335119.2	+	1	663	c.552C>G	c.(550-552)ctC>ctG	p.L184L		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	184	BACK.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GCCGCCTGCTCCGTGATGAAA	0.532																																																	0													56.0	55.0	55.0					9																	36170051		2203	4300	6503	SO:0001819	synonymous_variant	881			Z46967	CCDS6599.1	9p13.1	2013-10-02			ENSG00000185972	ENSG00000185972		"""BTB/POZ domain containing"""	1568	protein-coding gene	gene with protein product		603960				7641791	Standard	NM_005893		Approved	KBTBD14, BTBD20	uc003zzb.4	Q13939	OTTHUMG00000019901	ENST00000335119.2:c.552C>G	9.37:g.36170051C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BXG7	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.L184	ENST00000335119.2	37	c.552	CCDS6599.1	9																																																																																			CCIN	-	pfam_BACK,smart_BACK		0.532	CCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCIN	HGNC	protein_coding	OTTHUMT00000052418.1	C	NM_005893		36170051	+1	no_errors	ENST00000335119	ensembl	human	known	70_37	silent	SNP	0.989	G
CCNL1	57018	genome.wustl.edu	37	3	156866059	156866059	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:156866059G>C	ENST00000295926.3	-	11	1670	c.1552C>G	c.(1552-1554)Cgc>Ggc	p.R518G	CCNL1_ENST00000479052.1_5'Flank|CCNL1_ENST00000461804.1_Intron	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	518					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)|nucleus (GO:0005634)				NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			TGTCCTGAGCGACTGCCACCA	0.507																																																	0													131.0	112.0	118.0					3																	156866059		2203	4300	6503	SO:0001583	missense	57018			AF180920	CCDS3178.1	3q25.31	2008-02-05			ENSG00000163660	ENSG00000163660			20569	protein-coding gene	gene with protein product		613384				11980906	Standard	NM_020307		Approved	ania-6a	uc003fbf.3	Q9UK58	OTTHUMG00000158713	ENST00000295926.3:c.1552C>G	3.37:g.156866059G>C	ENSP00000295926:p.Arg518Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMY3|Q6NVY9|Q6UWS7|Q8NI48|Q96QT0|Q9NZF3	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L	p.R518G	ENST00000295926.3	37	c.1552	CCDS3178.1	3	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394545	0.62066	.	.	ENSG00000163660	ENST00000295926	T	0.23552	1.9	5.4	5.4	0.78164	.	0.114561	0.64402	D	0.000008	T	0.18383	0.0441	N	0.22421	0.69	0.80722	D	1	P	0.38827	0.649	B	0.28465	0.09	T	0.04229	-1.0967	10	0.59425	D	0.04	-4.7809	19.1698	0.93572	0.0:0.0:1.0:0.0	.	518	Q9UK58	CCNL1_HUMAN	G	518	ENSP00000295926:R518G	ENSP00000295926:R518G	R	-	1	0	CCNL1	158348753	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.698000	0.91311	2.523000	0.85059	0.557000	0.71058	CGC	CCNL1	-	pirsf_Cyclin_L		0.507	CCNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNL1	HGNC	protein_coding	OTTHUMT00000351859.1	G	NM_020307		156866059	-1	no_errors	ENST00000295926	ensembl	human	known	70_37	missense	SNP	1.000	C
CCNT1	904	genome.wustl.edu	37	12	49091968	49091969	+	Splice_Site	INS	-	-	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:49091968_49091969insA	ENST00000261900.3	-	6	719		c.e6-2			NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1						cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)	p.?(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CCTTGCTTGCTAAAGAAAAAAA	0.317																																																	1	Unknown(1)	lung(1)																																								SO:0001630	splice_region_variant	904			AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.497-2->T	12.37:g.49091971_49091971dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A9XU13|E7EX76|O60581	Splice_Site	INS	-	e6-2	ENST00000261900.3	37	c.497-3_497-2	CCDS8766.1	12																																																																																			CCNT1	-	-		0.317	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT1	HGNC	protein_coding	OTTHUMT00000408853.1	-	NM_001240	Intron	49091969	-1	no_errors	ENST00000261900	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.991	A
CDH17	1015	genome.wustl.edu	37	8	95186037	95186037	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:95186037G>C	ENST00000027335.3	-	7	895	c.771C>G	c.(769-771)atC>atG	p.I257M	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.I257M	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	257	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GAGTGATTTTGATGGGGTGAG	0.443																																																	0													163.0	162.0	163.0					8																	95186037		2203	4300	6503	SO:0001583	missense	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.771C>G	8.37:g.95186037G>C	ENSP00000027335:p.Ile257Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15336|Q2M2E0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I257M	ENST00000027335.3	37	c.771	CCDS6260.1	8	.	.	.	.	.	.	.	.	.	.	G	8.950	0.968021	0.18659	.	.	ENSG00000079112	ENST00000027335;ENST00000450165	T;T	0.59364	0.27;0.27	5.96	-0.0319	0.13907	Cadherin (2);Cadherin-like (1);	0.861859	0.10109	N	0.714949	T	0.32224	0.0822	N	0.04805	-0.155	0.31038	N	0.7167	B	0.20550	0.046	B	0.24269	0.052	T	0.34800	-0.9814	10	0.28530	T	0.3	-1.5472	6.9934	0.24767	0.0733:0.4404:0.373:0.1132	.	257	Q12864	CAD17_HUMAN	M	257	ENSP00000027335:I257M;ENSP00000401468:I257M	ENSP00000027335:I257M	I	-	3	3	CDH17	95255213	0.988000	0.35896	0.982000	0.44146	0.972000	0.66771	0.234000	0.17930	0.298000	0.22638	0.655000	0.94253	ATC	CDH17	-	superfamily_Cadherin-like,pfscan_Cadherin		0.443	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH17	HGNC	protein_coding	OTTHUMT00000378560.1	G	NM_004063		95186037	-1	no_errors	ENST00000027335	ensembl	human	known	70_37	missense	SNP	0.863	C
CDKN2AIP	55602	genome.wustl.edu	37	4	184368433	184368433	+	Silent	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:184368433G>A	ENST00000504169.1	+	3	1803	c.1596G>A	c.(1594-1596)ttG>ttA	p.L532L	CDKN2AIP_ENST00000302350.4_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	532	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				negative regulation of cell growth (GO:0030308)|positive regulation of signal transduction (GO:0009967)|regulation of protein stability (GO:0031647)	cytoplasm (GO:0005737)|granular component (GO:0001652)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	p53 binding (GO:0002039)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GAGAAGCATTGAAGTTATTTC	0.373																																																	0													81.0	87.0	85.0					4																	184368433		2203	4300	6503	SO:0001819	synonymous_variant	55602			AK000043	CCDS34110.1	4q35.1	2008-02-05			ENSG00000168564	ENSG00000168564			24325	protein-coding gene	gene with protein product	"""collaborates/cooperates with ARF (alternate reading frame) protein"""	615914				12154087, 16803988	Standard	NM_017632		Approved	FLJ20036, CARF	uc003ivp.1	Q9NXV6	OTTHUMG00000160626	ENST00000504169.1:c.1596G>A	4.37:g.184368433G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TBM5|Q9NYH0	Silent	SNP	pfam_DUF3469,pfscan_Ds-RNA-bd	p.L532	ENST00000504169.1	37	c.1596	CCDS34110.1	4																																																																																			CDKN2AIP	-	pfscan_Ds-RNA-bd		0.373	CDKN2AIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDKN2AIP	HGNC	protein_coding	OTTHUMT00000361488.1	G	NM_017632		184368433	+1	no_errors	ENST00000504169	ensembl	human	known	70_37	silent	SNP	0.994	A
CDX4	1046	genome.wustl.edu	37	X	72674416	72674416	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:72674416G>A	ENST00000373514.2	+	3	850	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	284					anterior/posterior pattern specification (GO:0009952)|blood vessel development (GO:0001568)|labyrinthine layer development (GO:0060711)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	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)			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					TATAGTCTCCGAATGAAAGAA	0.428																																																	0													52.0	43.0	46.0					X																	72674416		2202	4300	6502	SO:0001583	missense	1046			AF029879	CCDS14424.1	Xq13.2	2012-03-09	2007-07-09		ENSG00000131264	ENSG00000131264		"""Homeoboxes / ANTP class : HOXL subclass"""	1808	protein-coding gene	gene with protein product		300025	"""caudal type homeo box transcription factor 4"""			7655457	Standard	NM_005193		Approved		uc011mqk.2	O14627	OTTHUMG00000021831	ENST00000373514.2:c.850G>A	X.37:g.72674416G>A	ENSP00000362613:p.Glu284Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A513|Q5JS20	Missense_Mutation	SNP	pfam_Caudal_activation_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.E284K	ENST00000373514.2	37	c.850	CCDS14424.1	X	.	.	.	.	.	.	.	.	.	.	G	20.3	3.971656	0.74246	.	.	ENSG00000131264	ENST00000373514	D	0.94650	-3.48	3.91	3.91	0.45181	.	0.570185	0.17938	N	0.156928	D	0.94768	0.8311	L	0.38175	1.15	0.32273	N	0.568565	D	0.76494	0.999	D	0.70716	0.97	D	0.94318	0.7551	10	0.72032	D	0.01	.	10.9705	0.47436	0.0:0.0:1.0:0.0	.	284	O14627	CDX4_HUMAN	K	284	ENSP00000362613:E284K	ENSP00000362613:E284K	E	+	1	0	CDX4	72591141	1.000000	0.71417	0.995000	0.50966	0.889000	0.51656	3.743000	0.55104	1.700000	0.51204	0.429000	0.28392	GAA	CDX4	-	NULL		0.428	CDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDX4	HGNC	protein_coding	OTTHUMT00000057229.2	G	NM_005193		72674416	+1	no_errors	ENST00000373514	ensembl	human	known	70_37	missense	SNP	0.997	A
CEACAM20	125931	genome.wustl.edu	37	19	45015098	45015098	+	RNA	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:45015098G>C	ENST00000454753.1	-	0	2006							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CTCATAGATTGACTCCATGTT	0.478																																																	0													88.0	89.0	89.0					19																	45015098		1885	4114	5999			125931			AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45015098G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000454753.1	37	NULL		19																																																																																			CEACAM20	-	-		0.478	CEACAM20-001	KNOWN	basic	processed_transcript	CEACAM20	HGNC	processed_transcript	OTTHUMT00000323032.1	G	NM_198444		45015098	-1	no_errors	ENST00000316962	ensembl	human	known	70_37	rna	SNP	0.009	C
FAM96B	51647	genome.wustl.edu	37	16	66969530	66969530	+	5'Flank	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:66969530G>C	ENST00000422424.2	-	0	0				CES2_ENST00000417689.1_Missense_Mutation_p.E62Q|CES2_ENST00000317091.4_Missense_Mutation_p.E62Q	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B						chromosome segregation (GO:0007059)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)				kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CGAGACCAGCGAGCCGACCAT	0.677																																																	0													56.0	64.0	62.0					16																	66969530		2200	4297	6497	SO:0001631	upstream_gene_variant	8824				CCDS45506.1	16q22.1	2014-01-16			ENSG00000166595	ENSG00000166595			24261	protein-coding gene	gene with protein product		614778				11042152, 10810093, 23891004	Standard	NM_016062		Approved	CGI-128	uc021tjy.2	Q9Y3D0	OTTHUMG00000175408		16.37:g.66969530G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.E62Q	ENST00000422424.2	37	c.184	CCDS45506.1	16	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641118	0.67244	.	.	ENSG00000172831	ENST00000417689;ENST00000317091	T;T	0.66280	-0.19;-0.2	4.14	-0.336	0.12658	.	.	.	.	.	T	0.36552	0.0971	N	0.08118	0	0.09310	N	1	B	0.22414	0.069	B	0.17433	0.018	T	0.25433	-1.0132	9	0.72032	D	0.01	.	4.9707	0.14113	0.2034:0.3715:0.425:0.0	.	62	A8K367	.	Q	62	ENSP00000394452:E62Q;ENSP00000317842:E62Q	ENSP00000317842:E62Q	E	+	1	0	CES2	65527031	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.569000	0.05902	-0.008000	0.14320	0.609000	0.83330	GAG	CES2	-	NULL		0.677	FAM96B-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	CES2	HGNC	protein_coding	OTTHUMT00000429890.1	G	NM_016062		66969530	+1	no_errors	ENST00000317091	ensembl	human	known	70_37	missense	SNP	0.000	C
CHD7	55636	genome.wustl.edu	37	8	61707669	61707669	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:61707669G>A	ENST00000423902.2	+	4	2700	c.2221G>A	c.(2221-2223)Gag>Aag	p.E741K	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.E741K	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	741					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGAAGAAGATGAGGACCCAGG	0.433																																																	1	Insertion - In frame(1)	lung(1)											97.0	98.0	98.0					8																	61707669		1837	4081	5918	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2221G>A	8.37:g.61707669G>A	ENSP00000392028:p.Glu741Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E741K	ENST00000423902.2	37	c.2221	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	19.00	3.741512	0.69304	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;T	0.81821	-1.54;-1.11	5.73	5.73	0.89815	.	0.154150	0.30419	N	0.009666	T	0.67757	0.2927	N	0.08118	0	0.51767	D	0.999939	B	0.20780	0.048	B	0.18263	0.021	T	0.61187	-0.7113	10	0.33940	T	0.23	-17.5982	20.2602	0.98440	0.0:0.0:1.0:0.0	.	741	Q9P2D1	CHD7_HUMAN	K	741	ENSP00000392028:E741K;ENSP00000436027:E741K	ENSP00000307304:E741K	E	+	1	0	CHD7	61870223	1.000000	0.71417	0.963000	0.40424	0.981000	0.71138	7.898000	0.87363	2.861000	0.98227	0.655000	0.94253	GAG	CHD7	-	NULL		0.433	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61707669	+1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	A
CHD7	55636	genome.wustl.edu	37	8	61750246	61750246	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:61750246G>C	ENST00000423902.2	+	18	4684	c.4205G>C	c.(4204-4206)aGa>aCa	p.R1402T	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1402	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGATGTCATAGAATAGGACAG	0.393																																																	0													32.0	30.0	31.0					8																	61750246		1834	4087	5921	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4205G>C	8.37:g.61750246G>C	ENSP00000392028:p.Arg1402Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1402T	ENST00000423902.2	37	c.4205	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	31	5.078429	0.94000	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.97888	-4.59	5.83	5.83	0.93111	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99471	0.9812	H	0.99719	4.725	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.97894	1.0299	10	0.87932	D	0	-17.8429	20.1338	0.98010	0.0:0.0:1.0:0.0	.	1402	Q9P2D1	CHD7_HUMAN	T	1402	ENSP00000392028:R1402T	ENSP00000307304:R1402T	R	+	2	0	CHD7	61912800	1.000000	0.71417	0.992000	0.48379	0.998000	0.95712	9.869000	0.99810	2.770000	0.95276	0.655000	0.94253	AGA	CHD7	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.393	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61750246	+1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	C
CHD7	55636	genome.wustl.edu	37	8	61750713	61750713	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:61750713G>A	ENST00000423902.2	+	19	4911	c.4432G>A	c.(4432-4434)Gaa>Aaa	p.E1478K	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1478					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGAGGAGGATGAAGGGTCTAA	0.408																																																	0													65.0	59.0	61.0					8																	61750713		1897	4121	6018	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4432G>A	8.37:g.61750713G>A	ENSP00000392028:p.Glu1478Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.E1478K	ENST00000423902.2	37	c.4432	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.433318	0.96150	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.84589	-1.87	5.32	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.85084	0.5616	L	0.45352	1.415	0.80722	D	1	B	0.24368	0.102	B	0.40256	0.324	D	0.84111	0.0401	10	0.72032	D	0.01	-22.0109	14.5591	0.68123	0.0708:0.0:0.9292:0.0	.	1478	Q9P2D1	CHD7_HUMAN	K	1478	ENSP00000392028:E1478K	ENSP00000307304:E1478K	E	+	1	0	CHD7	61913267	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	9.813000	0.99286	1.391000	0.46566	0.655000	0.94253	GAA	CHD7	-	NULL		0.408	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	G	XM_098762		61750713	+1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	A
CISD3	284106	genome.wustl.edu	37	17	36886894	36886894	+	Intron	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:36886894C>G	ENST00000439660.2	+	2	172				AC006449.1_ENST00000595377.1_5'Flank|RNA5SP440_ENST00000363245.1_RNA|CISD3_ENST00000578573.1_3'UTR	NM_001136498.1	NP_001129970.1	P0C7P0	CISD3_HUMAN	CDGSH iron sulfur domain 3							mitochondrion (GO:0005739)	2 iron, 2 sulfur cluster binding (GO:0051537)|metal ion binding (GO:0046872)			endometrium(2)	2						CTCGCCCCTTCAGCCCTGTCA	0.562																																																	0																																										SO:0001627	intron_variant	284106			AK097047	CCDS45662.1	17q12	2007-08-10				ENSG00000277972		"""CDGSH iron sulfur domain containing"""	27578	protein-coding gene	gene with protein product	"""mitoNEET related 2"""	611933				17376863, 17584744	Standard	NM_001136498		Approved	Miner2	uc010wds.1	P0C7P0		ENST00000439660.2:c.49-119C>G	17.37:g.36886894C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000439660.2	37	NULL	CCDS45662.1	17																																																																																			CISD3	-	-		0.562	CISD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CISD3	HGNC	protein_coding	OTTHUMT00000441921.1	C			36886894	+1	no_errors	ENST00000578573	ensembl	human	known	70_37	rna	SNP	0.000	G
CIT	11113	genome.wustl.edu	37	12	120263013	120263013	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:120263013C>T	ENST00000261833.7	-	8	965	c.913G>A	c.(913-915)Gag>Aag	p.E305K	CIT_ENST00000392521.2_Missense_Mutation_p.E305K	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	305	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGGTTCCCTCTGCGAAGGGG	0.453																																																	0													75.0	76.0	76.0					12																	120263013		2203	4300	6503	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.913G>A	12.37:g.120263013C>T	ENSP00000261833:p.Glu305Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E305K	ENST00000261833.7	37	c.913	CCDS9192.1	12	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298672	0.60195	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.39787	1.06;1.06	5.69	5.69	0.88448	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.213476	0.38837	N	0.001555	T	0.43299	0.1241	L	0.39326	1.205	0.80722	D	1	P;B	0.36086	0.536;0.012	B;B	0.40256	0.324;0.087	T	0.23726	-1.0180	10	0.42905	T	0.14	.	19.8252	0.96614	0.0:1.0:0.0:0.0	.	305;305	Q2M5E1;O14578	.;CTRO_HUMAN	K	305	ENSP00000376306:E305K;ENSP00000261833:E305K	ENSP00000261833:E305K	E	-	1	0	CIT	118747396	1.000000	0.71417	0.964000	0.40570	0.388000	0.30384	7.792000	0.85828	2.692000	0.91855	0.655000	0.94253	GAG	CIT	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Citron_Rho-interacting_kinase,pfscan_Prot_kinase_cat_dom		0.453	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	C	NM_007174		120263013	-1	no_errors	ENST00000261833	ensembl	human	known	70_37	missense	SNP	1.000	T
CLEC3B	7123	genome.wustl.edu	37	3	45077054	45077054	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:45077054C>G	ENST00000296130.4	+	3	427	c.247C>G	c.(247-249)Ctg>Gtg	p.L83V	CLEC3B_ENST00000490386.1_3'UTR|RNU5B-3P_ENST00000516601.1_RNA|CLEC3B_ENST00000428034.1_Missense_Mutation_p.L41V	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	83	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				bone mineralization (GO:0030282)|cellular response to organic substance (GO:0071310)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ossification (GO:0001503)|positive regulation of plasminogen activation (GO:0010756)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|granular component (GO:0001652)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)|kringle domain binding (GO:0036143)			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Tenecteplase(DB00031)	GAAATGCTTTCTGGCCTTCAC	0.627																																					GBM(139;1487 3263 30871)												0													67.0	59.0	62.0					3																	45077054		2203	4300	6503	SO:0001583	missense	7123				CCDS2726.1	3p22-p21.3	2010-04-27	2005-02-09	2005-02-09	ENSG00000163815	ENSG00000163815		"""C-type lectin domain containing"""	11891	protein-coding gene	gene with protein product		187520	"""tetranectin (plasminogen binding protein)"""	TNA			Standard	NM_003278		Approved	TN	uc003cok.4	P05452	OTTHUMG00000133087	ENST00000296130.4:c.247C>G	3.37:g.45077054C>G	ENSP00000296130:p.Leu83Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FGX6	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L83V	ENST00000296130.4	37	c.247	CCDS2726.1	3	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932682	0.73442	.	.	ENSG00000163815	ENST00000296130;ENST00000428034	T;T	0.30714	1.52;1.52	4.53	4.53	0.55603	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.64402	D	0.000002	T	0.53206	0.1782	M	0.67517	2.055	0.58432	D	0.999998	D	0.71674	0.998	D	0.85130	0.997	T	0.49194	-0.8965	10	0.25751	T	0.34	-16.247	17.6076	0.88042	0.0:1.0:0.0:0.0	.	83	P05452	TETN_HUMAN	V	83;41	ENSP00000296130:L83V;ENSP00000396013:L41V	ENSP00000296130:L83V	L	+	1	2	CLEC3B	45052058	0.998000	0.40836	0.997000	0.53966	0.931000	0.56810	3.710000	0.54860	2.235000	0.73313	0.561000	0.74099	CTG	CLEC3B	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.627	CLEC3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC3B	HGNC	protein_coding	OTTHUMT00000256745.1	C	NM_003278		45077054	+1	no_errors	ENST00000296130	ensembl	human	known	70_37	missense	SNP	1.000	G
CLN5	1203	genome.wustl.edu	37	13	77574637	77574637	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr13:77574637G>C	ENST00000377453.3	+	4	2049	c.757G>C	c.(757-759)Gaa>Caa	p.E253Q	FBXL3_ENST00000477982.1_5'Flank	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	204					brain development (GO:0007420)|cell death (GO:0008219)|glycosylation (GO:0070085)|lysosomal lumen acidification (GO:0007042)|neurogenesis (GO:0022008)|neuron maturation (GO:0042551)|protein catabolic process (GO:0030163)|signal peptide processing (GO:0006465)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|perinuclear region of cytoplasm (GO:0048471)|vacuolar lumen (GO:0005775)	mannose binding (GO:0005537)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		ACAGGACAATGAAACAGGAAT	0.368																																																	0													48.0	48.0	48.0					13																	77574637		2203	4300	6503	SO:0001583	missense	1203				CCDS9456.1	13q21.2-q32	2014-09-17			ENSG00000102805	ENSG00000102805			2076	protein-coding gene	gene with protein product		608102				7942847, 8661106	Standard	NM_006493		Approved		uc001vkc.3	O75503	OTTHUMG00000017100	ENST00000377453.3:c.757G>C	13.37:g.77574637G>C	ENSP00000366673:p.Glu253Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQK7	Missense_Mutation	SNP	NULL	p.E253Q	ENST00000377453.3	37	c.757	CCDS9456.1	13	.	.	.	.	.	.	.	.	.	.	g	19.89	3.911622	0.72983	.	.	ENSG00000102805	ENST00000377453;ENST00000541907;ENST00000535238	D	0.89552	-2.53	5.84	5.84	0.93424	.	0.329212	0.36268	N	0.002689	D	0.87672	0.6236	L	0.57536	1.79	0.80722	D	1	P	0.42518	0.782	B	0.37650	0.255	D	0.86037	0.1517	10	0.33141	T	0.24	-27.0266	20.5482	0.99286	0.0:0.0:1.0:0.0	.	204	O75503	CLN5_HUMAN	Q	253;204;119	ENSP00000366673:E253Q	ENSP00000366673:E253Q	E	+	1	0	CLN5	76472638	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.597000	0.61062	2.933000	0.99390	0.645000	0.84053	GAA	CLN5	-	NULL		0.368	CLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLN5	HGNC	protein_coding	OTTHUMT00000045318.1	G	NM_006493		77574637	+1	no_errors	ENST00000377453	ensembl	human	known	70_37	missense	SNP	1.000	C
CNKSR3	154043	genome.wustl.edu	37	6	154732090	154732090	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:154732090C>T	ENST00000607772.1	-	11	1801	c.1257G>A	c.(1255-1257)atG>atA	p.M419I	CNKSR3_ENST00000479339.1_Missense_Mutation_p.M339I|CNKSR3_ENST00000433165.2_Missense_Mutation_p.M244I	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	419	DUF1170.				negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TTTTCTCTCTCATTTTTGTGG	0.493																																																	0													170.0	161.0	164.0					6																	154732090		2203	4300	6503	SO:0001583	missense	154043			AK055911	CCDS5246.1	6q25.2	2013-01-10	2005-04-11	2005-04-11	ENSG00000153721	ENSG00000153721		"""Sterile alpha motif (SAM) domain containing"""	23034	protein-coding gene	gene with protein product			"""membrane associated guanylate kinase interacting protein-like 1"""	MAGI1			Standard	NM_173515		Approved	FLJ31349		Q6P9H4	OTTHUMG00000015873	ENST00000607772.1:c.1257G>A	6.37:g.154732090C>T	ENSP00000475915:p.Met419Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SGD5|Q96N65	Missense_Mutation	SNP	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,pfscan_PDZ,pfscan_SAM	p.M419I	ENST00000607772.1	37	c.1257	CCDS5246.1	6	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719126	0.48622	.	.	ENSG00000153721	ENST00000367213;ENST00000433165;ENST00000479339	T;T;T	0.44881	1.5;0.91;0.91	5.55	4.66	0.58398	Connector enhancer of kinase suppressor of ras 2 (1);	0.245386	0.41396	D	0.000898	T	0.24890	0.0604	L	0.59436	1.845	0.33292	D	0.563673	B	0.30146	0.27	B	0.31812	0.136	T	0.11916	-1.0568	10	0.28530	T	0.3	.	14.6385	0.68706	0.0:0.7233:0.2767:0.0	.	419	Q6P9H4	CNKR3_HUMAN	I	419;244;339	ENSP00000356182:M419I;ENSP00000414185:M244I;ENSP00000418975:M339I	ENSP00000356182:M419I	M	-	3	0	CNKSR3	154773782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.546000	0.60705	1.298000	0.44778	0.655000	0.94253	ATG	CNKSR3	-	pfam_CNKSR2		0.493	CNKSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR3	HGNC	protein_coding	OTTHUMT00000042792.2	C	NM_173515		154732090	-1	no_errors	ENST00000367213	ensembl	human	known	70_37	missense	SNP	1.000	T
CNNM2	54805	genome.wustl.edu	37	10	104679638	104679638	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:104679638C>G	ENST00000369878.4	+	1	1589	c.1401C>G	c.(1399-1401)ttC>ttG	p.F467L	CNNM2_ENST00000369875.3_Missense_Mutation_p.F467L|CNNM2_ENST00000433628.2_Missense_Mutation_p.F467L	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 2	467	CBS 1. {ECO:0000255|PROSITE- ProRule:PRU00703}.				magnesium ion homeostasis (GO:0010960)|magnesium ion transport (GO:0015693)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	adenyl nucleotide binding (GO:0030554)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCCTGGACTTCAACACCATGT	0.572																																																	0													81.0	72.0	75.0					10																	104679638		2203	4300	6503	SO:0001583	missense	54805			AF216962	CCDS7543.1, CCDS44474.1, CCDS44475.1	10q24.32	2014-08-08	2014-08-07		ENSG00000148842	ENSG00000148842			103	protein-coding gene	gene with protein product		607803	"""cyclin M2"""	ACDP2		21393841, 24699222	Standard	NM_017649		Approved		uc001kwm.3	Q9H8M5	OTTHUMG00000018976	ENST00000369878.4:c.1401C>G	10.37:g.104679638C>G	ENSP00000358894:p.Phe467Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T569|Q5T570|Q8WU59|Q9H952|Q9NRK5|Q9NXT4	Missense_Mutation	SNP	pfam_DUF21,superfamily_cNMP-bd-like	p.F467L	ENST00000369878.4	37	c.1401	CCDS44474.1	10	.	.	.	.	.	.	.	.	.	.	C	19.36	3.813395	0.70912	.	.	ENSG00000148842	ENST00000457502;ENST00000433628;ENST00000369875;ENST00000369878;ENST00000345419;ENST00000541201	T;T;T	0.74632	-0.73;-0.86;-0.7	4.82	4.82	0.62117	Cystathionine beta-synthase, core (1);	0.092380	0.85682	D	0.000000	D	0.86335	0.5908	M	0.79614	2.46	0.80722	D	1	B;B;D	0.71674	0.119;0.073;0.998	B;B;D	0.87578	0.273;0.141;0.998	D	0.87020	0.2128	10	0.46703	T	0.11	.	17.8941	0.88881	0.0:1.0:0.0:0.0	.	467;467;467	Q9H8M5-2;Q9H8M5;F5H1I3	.;CNNM2_HUMAN;.	L	467	ENSP00000392875:F467L;ENSP00000358891:F467L;ENSP00000358894:F467L	ENSP00000286899:F467L	F	+	3	2	CNNM2	104669628	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	2.678000	0.46900	2.192000	0.70111	0.561000	0.74099	TTC	CNNM2	-	NULL		0.572	CNNM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNNM2	HGNC	protein_coding	OTTHUMT00000050113.3	C	NM_017649		104679638	+1	no_errors	ENST00000457502	ensembl	human	known	70_37	missense	SNP	1.000	G
CNTN4	152330	genome.wustl.edu	37	3	3081733	3081733	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:3081733G>A	ENST00000397461.1	+	19	2560	c.2176G>A	c.(2176-2178)Gaa>Aaa	p.E726K	CNTN4_ENST00000358480.3_Missense_Mutation_p.E507K|CNTN4_ENST00000397459.2_Missense_Mutation_p.E398K|CNTN4_ENST00000448906.2_Missense_Mutation_p.E398K|CNTN4_ENST00000427331.1_Missense_Mutation_p.E726K|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000418658.1_Missense_Mutation_p.E726K	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	726	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGTCCCTGAGGAATTACAGAA	0.468																																																	0													102.0	91.0	95.0					3																	3081733		2203	4300	6503	SO:0001583	missense	152330			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.2176G>A	3.37:g.3081733G>A	ENSP00000380602:p.Glu726Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E726K	ENST00000397461.1	37	c.2176	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	G	28.0	4.880413	0.91740	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56	5.09	5.09	0.68999	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.055305	0.64402	D	0.000001	T	0.73187	0.3555	M	0.88377	2.95	0.80722	D	1	P;D	0.56035	0.863;0.974	P;P	0.55615	0.771;0.78	T	0.78003	-0.2374	10	0.49607	T	0.09	.	18.8842	0.92368	0.0:0.0:1.0:0.0	.	725;726	Q8IWV2-3;Q8IWV2	.;CNTN4_HUMAN	K	726;726;726;507;398;398	ENSP00000396010:E726K;ENSP00000380602:E726K;ENSP00000413642:E726K;ENSP00000351267:E507K;ENSP00000380600:E398K;ENSP00000392077:E398K	ENSP00000351267:E507K	E	+	1	0	CNTN4	3056733	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	9.182000	0.94881	2.518000	0.84900	0.655000	0.94253	GAA	CNTN4	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.468	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	G			3081733	+1	no_errors	ENST00000397461	ensembl	human	known	70_37	missense	SNP	1.000	A
CPA6	57094	genome.wustl.edu	37	8	68421816	68421816	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:68421816G>A	ENST00000297770.4	-	5	685	c.470C>T	c.(469-471)tCa>tTa	p.S157L	CPA6_ENST00000297769.4_Missense_Mutation_p.S9L|CPA6_ENST00000518549.1_Missense_Mutation_p.S157L	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	157						proteinaceous extracellular matrix (GO:0005578)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AATGAGGCCTGAGTGAGTTTT	0.303																																																	0													79.0	78.0	78.0					8																	68421816		2203	4298	6501	SO:0001583	missense	57094			AF221594	CCDS6200.1	8q12.3	2012-02-10			ENSG00000165078	ENSG00000165078			17245	protein-coding gene	gene with protein product		609562				11836249	Standard	NM_020361		Approved	CPAH	uc003xxq.4	Q8N4T0	OTTHUMG00000164575	ENST00000297770.4:c.470C>T	8.37:g.68421816G>A	ENSP00000297770:p.Ser157Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NEX8|Q8TDE8|Q9NRI9	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.S157L	ENST00000297770.4	37	c.470	CCDS6200.1	8	.	.	.	.	.	.	.	.	.	.	G	28.7	4.941152	0.92526	.	.	ENSG00000165078	ENST00000297769;ENST00000297770;ENST00000518549	T;T;T	0.33216	1.42;1.42;3.82	5.49	5.49	0.81192	Peptidase M14, carboxypeptidase A (2);	0.332680	0.33127	N	0.005243	T	0.51381	0.1671	M	0.75150	2.29	0.44694	D	0.99768	P;P;P	0.47910	0.804;0.902;0.87	P;B;P	0.53360	0.462;0.415;0.724	T	0.54964	-0.8214	10	0.87932	D	0	.	18.9697	0.92709	0.0:0.0:1.0:0.0	.	157;9;157	Q8N4T0-2;Q8N4T0-3;Q8N4T0	.;.;CBPA6_HUMAN	L	9;157;157	ENSP00000297769:S9L;ENSP00000297770:S157L;ENSP00000431112:S157L	ENSP00000297769:S9L	S	-	2	0	CPA6	68584370	1.000000	0.71417	0.957000	0.39632	0.962000	0.63368	8.236000	0.89805	2.582000	0.87167	0.650000	0.86243	TCA	CPA6	-	pfam_Peptidase_M14,smart_Peptidase_M14		0.303	CPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA6	HGNC	protein_coding	OTTHUMT00000379296.2	G	NM_020361		68421816	-1	no_errors	ENST00000297770	ensembl	human	known	70_37	missense	SNP	0.997	A
CPVL	54504	genome.wustl.edu	37	7	29111989	29111989	+	Silent	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:29111989G>C	ENST00000409850.1	-	12	1306	c.660C>G	c.(658-660)ctC>ctG	p.L220L	CPVL_ENST00000265394.5_Silent_p.L220L|CPVL_ENST00000396276.3_Silent_p.L220L			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	220						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCACAGGGTTGAGGGAATGGA	0.433																																																	0													148.0	126.0	134.0					7																	29111989		2203	4300	6503	SO:0001819	synonymous_variant	54504			AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.660C>G	7.37:g.29111989G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	pfam_Peptidase_S10,prints_Peptidase_S10	p.L220	ENST00000409850.1	37	c.660	CCDS5419.1	7																																																																																			CPVL	-	pfam_Peptidase_S10		0.433	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CPVL	HGNC	protein_coding	OTTHUMT00000328305.1	G	NM_019029		29111989	-1	no_errors	ENST00000265394	ensembl	human	known	70_37	silent	SNP	1.000	C
CRYBG3	131544	genome.wustl.edu	37	3	97652615	97652615	+	Silent	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:97652615G>C	ENST00000182096.4	+	15	2539	c.2475G>C	c.(2473-2475)gtG>gtC	p.V825V	CRYBG3_ENST00000389622.2_Silent_p.V32V|CRYBG3_ENST00000485253.1_3'UTR	NM_153605.3	NP_705833.3	Q68DQ2	CRBG3_HUMAN	beta-gamma crystallin domain containing 3	2773							carbohydrate binding (GO:0030246)			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						AAGAGGCTGTGAACTCTGTTC	0.438																																																	0													142.0	136.0	138.0					3																	97652615		1869	4089	5958	SO:0001819	synonymous_variant	131544					3q11.2	2008-09-30			ENSG00000080200	ENSG00000080200			34427	protein-coding gene	gene with protein product							Standard	NM_153605		Approved	DKFZp667G2110	uc021xbn.2	Q68DQ2	OTTHUMG00000159187	ENST00000182096.4:c.2475G>C	3.37:g.97652615G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLE8|F6VHI2|Q4G0V8|Q7Z4R9|Q86VD0|Q8N262|Q8N7F1|Q8NDQ8	Silent	SNP	pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.V825	ENST00000182096.4	37	c.2475		3																																																																																			CRYBG3	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin		0.438	CRYBG3-001	KNOWN	basic|appris_principal	protein_coding	CRYBG3	HGNC	protein_coding	OTTHUMT00000353751.1	G	NM_153605		97652615	+1	no_errors	ENST00000182096	ensembl	human	known	70_37	silent	SNP	1.000	C
CTAGE9	643854	genome.wustl.edu	37	6	132030684	132030684	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:132030684C>T	ENST00000314099.8	-	1	1522	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	ENPP3_ENST00000358229.5_Intron|ENPP3_ENST00000357639.3_Intron|ENPP3_ENST00000414305.1_Intron	NM_001145659.1|NM_001278507.1	NP_001139131.1|NP_001265436.1	A4FU28	CTGE9_HUMAN	CTAGE family, member 9	492						integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						AACTCTCTTTCAGTTAATTTT	0.388																																																	0													92.0	75.0	80.0					6																	132030684		692	1591	2283	SO:0001583	missense	643854				CCDS47475.1	6q23.2	2010-06-23			ENSG00000236761	ENSG00000236761			37275	protein-coding gene	gene with protein product							Standard	NM_001145659		Approved		uc011ece.2	A4FU28	OTTHUMG00000047966	ENST00000314099.8:c.1474G>A	6.37:g.132030684C>T	ENSP00000395587:p.Glu492Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E492K	ENST00000314099.8	37	c.1474	CCDS47475.1	6	.	.	.	.	.	.	.	.	.	.	-	6.307	0.424800	0.11987	.	.	ENSG00000236761	ENST00000314099	T	0.61742	0.08	.	.	.	.	.	.	.	.	T	0.34803	0.0910	M	0.64080	1.96	0.09310	N	1	B	0.25351	0.124	B	0.32624	0.149	T	0.48658	-0.9016	6	0.72032	D	0.01	.	.	.	.	.	492	A4FU28	CTGE9_HUMAN	K	492	ENSP00000395587:E492K	ENSP00000395587:E492K	E	-	1	0	CTAGE9	132072377	1.000000	0.71417	.	.	.	.	1.336000	0.33850	.	.	.	.	GAA	CTAGE9	-	NULL		0.388	CTAGE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE9	HGNC	protein_coding	OTTHUMT00000109220.1	C	NM_001145659		132030684	-1	no_errors	ENST00000314099	ensembl	human	known	70_37	missense	SNP	0.000	T
CTIF	9811	genome.wustl.edu	37	18	46238059	46238059	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr18:46238059G>C	ENST00000256413.3	+	7	872	c.577G>C	c.(577-579)Gat>Cat	p.D193H	CTIF_ENST00000382998.4_Missense_Mutation_p.D193H	NM_014772.2	NP_055587.1	O43310	CTIF_HUMAN	CBP80/20-dependent translation initiation factor	193	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational initiation (GO:0006446)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						GAGGAGAAATGATCGAAGGTA	0.542											OREG0024973	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													195.0	177.0	183.0					18																	46238059		2203	4300	6503	SO:0001583	missense	9811			AB007887	CCDS11935.1, CCDS45864.1	18q21.1	2011-01-20	2011-01-20	2011-01-20	ENSG00000134030	ENSG00000134030			23925	protein-coding gene	gene with protein product		613178	"""KIAA0427"""	KIAA0427		9455477, 19648179	Standard	NM_014772		Approved		uc002ldd.3	O43310	OTTHUMG00000132656	ENST00000256413.3:c.577G>C	18.37:g.46238059G>C	ENSP00000256413:p.Asp193His	Somatic	937	WXS	Illumina HiSeq	Phase_IV	B3KTR8|Q8IVD5	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.D193H	ENST00000256413.3	37	c.577	CCDS11935.1	18	.	.	.	.	.	.	.	.	.	.	G	21.1	4.094363	0.76870	.	.	ENSG00000134030	ENST00000256413;ENST00000382998;ENST00000420275	T;T	0.70631	-0.5;-0.44	5.1	5.1	0.69264	.	0.063003	0.64402	D	0.000013	T	0.81093	0.4751	L	0.55481	1.735	0.49915	D	0.999839	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.82552	-0.0400	10	0.72032	D	0.01	-23.3463	15.7973	0.78423	0.0:0.0:1.0:0.0	.	193;193	O43310-2;O43310	.;CTIF_HUMAN	H	193;193;145	ENSP00000256413:D193H;ENSP00000372459:D193H	ENSP00000256413:D193H	D	+	1	0	CTIF	44492057	1.000000	0.71417	0.997000	0.53966	0.939000	0.58152	5.541000	0.67212	2.537000	0.85549	0.561000	0.74099	GAT	CTIF	-	NULL		0.542	CTIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTIF	HGNC	protein_coding	OTTHUMT00000255907.1	G	NM_014772		46238059	+1	no_errors	ENST00000382998	ensembl	human	known	70_37	missense	SNP	1.000	C
CUL7	9820	genome.wustl.edu	37	6	43005484	43005484	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:43005484G>A	ENST00000265348.3	-	26	5124	c.5039C>T	c.(5038-5040)tCc>tTc	p.S1680F	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Missense_Mutation_p.S1764F			Q14999	CUL7_HUMAN	cullin 7	1680					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CACACCCCGGGAGCGAATCTG	0.602																																																	0													32.0	30.0	31.0					6																	43005484		2200	4294	6494	SO:0001583	missense	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.5039C>T	6.37:g.43005484G>A	ENSP00000265348:p.Ser1680Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYZ0|F5H0L1|Q5T654	Missense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.S1764F	ENST00000265348.3	37	c.5291	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653361	0.67472	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	T;T	0.80994	-1.43;-1.44	5.34	5.34	0.76211	.	0.370657	0.25671	N	0.029077	T	0.78502	0.4293	L	0.44542	1.39	0.32347	N	0.558942	D;D;D;D	0.71674	0.991;0.995;0.994;0.998	D;P;P;D	0.66084	0.919;0.88;0.88;0.941	T	0.80211	-0.1476	10	0.87932	D	0	-19.3548	8.1189	0.30959	0.0841:0.1605:0.7554:0.0	.	1764;1680;1764;1680	F5H0L1;A8K9U1;B4DYZ0;Q14999	.;.;.;CUL7_HUMAN	F	1680;1764	ENSP00000265348:S1680F;ENSP00000438788:S1764F	ENSP00000265348:S1680F	S	-	2	0	CUL7	43113462	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.342000	0.59341	2.665000	0.90641	0.655000	0.94253	TCC	CUL7	-	NULL		0.602	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	G	NM_014780		43005484	-1	no_errors	ENST00000535468	ensembl	human	known	70_37	missense	SNP	0.834	A
CUL7	9820	genome.wustl.edu	37	6	43005529	43005529	+	Nonsense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:43005529G>C	ENST00000265348.3	-	26	5079	c.4994C>G	c.(4993-4995)tCa>tGa	p.S1665*	RN7SL403P_ENST00000481783.2_RNA|CUL7_ENST00000535468.1_Nonsense_Mutation_p.S1749*			Q14999	CUL7_HUMAN	cullin 7	1665					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epithelial to mesenchymal transition (GO:0001837)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|mitotic cytokinesis (GO:0000281)|placenta development (GO:0001890)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	3M complex (GO:1990393)|anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTTGGGGCCTGAGGAGCCTGG	0.632																																																	0													48.0	43.0	45.0					6																	43005529		2203	4300	6503	SO:0001587	stop_gained	9820			BC033647	CCDS4881.1, CCDS55003.1	6p21.1	2011-05-24	2004-03-22	2004-03-22	ENSG00000044090	ENSG00000044090			21024	protein-coding gene	gene with protein product		609577	"""KIAA0076"""	KIAA0076		12481031, 12904573	Standard	NM_014780		Approved	dJ20C7.5	uc011dvb.2	Q14999	OTTHUMG00000014718	ENST00000265348.3:c.4994C>G	6.37:g.43005529G>C	ENSP00000265348:p.Ser1665*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYZ0|F5H0L1|Q5T654	Nonsense_Mutation	SNP	pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.S1749*	ENST00000265348.3	37	c.5246	CCDS4881.1	6	.	.	.	.	.	.	.	.	.	.	G	41	8.946213	0.99012	.	.	ENSG00000044090	ENST00000265348;ENST00000535468	.	.	.	5.34	0.433	0.16534	.	1.739800	0.03068	N	0.156727	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-20.2612	9.6366	0.39811	0.3684:0.0:0.6316:0.0	.	.	.	.	X	1665;1749	.	ENSP00000265348:S1665X	S	-	2	0	CUL7	43113507	0.044000	0.20184	0.074000	0.20217	0.805000	0.45488	0.565000	0.23578	0.073000	0.16731	-0.150000	0.13652	TCA	CUL7	-	NULL		0.632	CUL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL7	HGNC	protein_coding	OTTHUMT00000040575.1	G	NM_014780		43005529	-1	no_errors	ENST00000535468	ensembl	human	known	70_37	nonsense	SNP	0.222	C
DCAF8L2	347442	genome.wustl.edu	37	X	27766674	27766674	+	Silent	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:27766674G>A	ENST00000451261.2	+	5	2061	c.1662G>A	c.(1660-1662)aaG>aaA	p.K554K		NM_001136533.1	NP_001130005.1	P0C7V8	DC8L2_HUMAN	DDB1 and CUL4 associated factor 8-like 2	554										central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						CTGGGTTAAAGAAGGTGATTA	0.507																																																	0													118.0	89.0	98.0					X																	27766674		692	1591	2283	SO:0001819	synonymous_variant	347442				CCDS59162.1	Xp22.11	2013-01-09	2009-07-17	2009-07-17		ENSG00000189186		"""WD repeat domain containing"""	31811	protein-coding gene	gene with protein product			"""WD repeat domain 42C"""	WDR42C			Standard	NM_001136533		Approved		uc011mjy.2	P0C7V8		ENST00000451261.2:c.1662G>A	X.37:g.27766674G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXH9|J3KT06	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K554	ENST00000451261.2	37	c.1662	CCDS59162.1	X																																																																																			DCAF8L2	-	NULL		0.507	DCAF8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF8L2	HGNC	protein_coding	OTTHUMT00000056143.4	G	XM_293354		27766674	+1	no_errors	ENST00000451261	ensembl	human	known	70_37	silent	SNP	0.086	A
DEF6	50619	genome.wustl.edu	37	6	35280419	35280419	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:35280419G>A	ENST00000316637.5	+	5	682	c.677G>A	c.(676-678)cGa>cAa	p.R226Q	DEF6_ENST00000542066.1_Intron	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	226	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						CTGTGGAAGCGAGGGCACCTG	0.607																																																	0													37.0	38.0	38.0					6																	35280419		2203	4300	6503	SO:0001583	missense	50619			AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.677G>A	6.37:g.35280419G>A	ENSP00000319831:p.Arg226Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VF4	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R226Q	ENST00000316637.5	37	c.677	CCDS4802.1	6	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018067	0.93404	.	.	ENSG00000023892	ENST00000316637	T	0.13196	2.61	5.44	5.44	0.79542	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.052119	0.64402	D	0.000001	T	0.03827	0.0108	N	0.21194	0.64	0.80722	D	1	D;D	0.53151	0.958;0.958	B;B	0.38655	0.278;0.278	T	0.21759	-1.0236	10	0.72032	D	0.01	-10.1492	7.0834	0.25244	0.2079:0.0:0.7921:0.0	.	226;226	B2RBP7;Q9H4E7	.;DEFI6_HUMAN	Q	226	ENSP00000319831:R226Q	ENSP00000319831:R226Q	R	+	2	0	DEF6	35388397	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.248000	0.72418	2.547000	0.85894	0.655000	0.94253	CGA	DEF6	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.607	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEF6	HGNC	protein_coding	OTTHUMT00000040276.1	G	NM_022047		35280419	+1	no_errors	ENST00000316637	ensembl	human	known	70_37	missense	SNP	1.000	A
DLGAP3	58512	genome.wustl.edu	37	1	35372982	35372982	+	5'UTR	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:35372982C>G	ENST00000373347.1	-	0	191				DLGAP3_ENST00000235180.4_5'Flank|DLGAP3_ENST00000495979.1_5'UTR			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3						cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				TCCTTGATGTCAGGATCCCCA	0.483																																																	0																																										SO:0001623	5_prime_UTR_variant	58512			AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.-78G>C	1.37:g.35372982C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TDD5|Q9H3X7	RNA	SNP	-	NULL	ENST00000373347.1	37	NULL	CCDS30670.1	1																																																																																			DLGAP3	-	-		0.483	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP3	HGNC	protein_coding	OTTHUMT00000011554.1	C	NM_021234		35372982	-1	no_errors	ENST00000495979	ensembl	human	known	70_37	rna	SNP	1.000	G
DNAJC21	134218	genome.wustl.edu	37	5	34929994	34929994	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:34929994C>G	ENST00000342382.4	+	1	297	c.70C>G	c.(70-72)Cgg>Ggg	p.R24G	DNAJC21_ENST00000382021.2_Missense_Mutation_p.R24G|DNAJC21_ENST00000303525.7_Missense_Mutation_p.R24G			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	24	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GAAGGCCTATCGGAAGCTGGC	0.721																																																	0													30.0	34.0	33.0					5																	34929994		2203	4300	6503	SO:0001583	missense	134218				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.70C>G	5.37:g.34929994C>G	ENSP00000343728:p.Arg24Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.R24G	ENST00000342382.4	37	c.70	CCDS34144.1	5	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100706	0.76983	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.42131	0.98;0.98;0.98	4.01	3.1	0.35709	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.64402	U	0.000002	T	0.71247	0.3317	M	0.94142	3.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.76924	-0.2779	10	0.87932	D	0	-6.5507	11.4178	0.49962	0.3267:0.6733:0.0:0.0	.	24;24	Q5F1R6;Q5F1R6-2	DJC21_HUMAN;.	G	24	ENSP00000343728:R24G;ENSP00000371451:R24G;ENSP00000306289:R24G	ENSP00000306289:R24G	R	+	1	2	DNAJC21	34965751	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.855000	0.39378	0.602000	0.29896	0.491000	0.48974	CGG	DNAJC21	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ		0.721	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC21	HGNC	protein_coding	OTTHUMT00000157337.1	C	NM_194283		34929994	+1	no_errors	ENST00000382021	ensembl	human	known	70_37	missense	SNP	1.000	G
DNMBP	23268	genome.wustl.edu	37	10	101656053	101656053	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:101656053G>T	ENST00000324109.4	-	10	3113	c.3022C>A	c.(3022-3024)Ctg>Atg	p.L1008M	DNMBP_ENST00000543621.1_Missense_Mutation_p.L254M|DNMBP_ENST00000540316.1_Intron|DNMBP_ENST00000342239.3_Missense_Mutation_p.L1032M	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1008	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		AGATGCTTCAGGTGACTGCTA	0.488																																																	0													181.0	144.0	156.0					10																	101656053		2203	4300	6503	SO:0001583	missense	23268			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.3022C>A	10.37:g.101656053G>T	ENSP00000315659:p.Leu1008Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVY3|Q9Y2L3	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3	p.L1032M	ENST00000324109.4	37	c.3094	CCDS7485.1	10	.	.	.	.	.	.	.	.	.	.	G	14.01	2.406393	0.42715	.	.	ENSG00000107554	ENST00000342239;ENST00000324109;ENST00000393570;ENST00000543621	T;T;T	0.66638	-0.22;-0.22;-0.22	5.47	4.57	0.56435	BAR (3);	0.190511	0.25827	N	0.028059	T	0.77068	0.4076	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.79784	0.993;0.971;0.993	T	0.76035	-0.3106	10	0.42905	T	0.14	-12.5581	9.2214	0.37379	0.0734:0.0:0.7823:0.1444	.	1008;254;1032	Q6XZF7;Q6XZF7-2;Q5SVK8	DNMBP_HUMAN;.;.	M	1032;1008;254;254	ENSP00000344914:L1032M;ENSP00000315659:L1008M;ENSP00000443657:L254M	ENSP00000315659:L1008M	L	-	1	2	DNMBP	101646043	1.000000	0.71417	1.000000	0.80357	0.102000	0.19082	3.291000	0.51764	1.319000	0.45190	-0.266000	0.10368	CTG	DNMBP	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom		0.488	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP	HGNC	protein_coding	OTTHUMT00000049832.2	G	NM_015221		101656053	-1	no_errors	ENST00000342239	ensembl	human	known	70_37	missense	SNP	1.000	T
DOCK11	139818	genome.wustl.edu	37	X	117748713	117748713	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:117748713C>T	ENST00000276202.7	+	29	3218	c.3155C>T	c.(3154-3156)tCt>tTt	p.S1052F	DOCK11_ENST00000276204.6_Missense_Mutation_p.S1052F	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1052					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GACTATATATCTGGATTCAGC	0.328																																																	0													77.0	83.0	81.0					X																	117748713		2202	4293	6495	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.3155C>T	X.37:g.117748713C>T	ENSP00000276202:p.Ser1052Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S1052F	ENST00000276202.7	37	c.3155	CCDS35373.1	X	.	.	.	.	.	.	.	.	.	.	C	18.47	3.630962	0.67015	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.66995	-0.24;-0.24	5.39	5.39	0.77823	.	0.103697	0.64402	D	0.000002	T	0.81039	0.4740	M	0.81341	2.54	0.40892	D	0.984081	D;D	0.65815	0.995;0.995	P;P	0.59703	0.862;0.862	T	0.83255	-0.0051	10	0.51188	T	0.08	-9.5646	18.4127	0.90558	0.0:1.0:0.0:0.0	.	1052;1052	A6NIW2;Q5JSL3	.;DOC11_HUMAN	F	1052	ENSP00000276204:S1052F;ENSP00000276202:S1052F	ENSP00000276202:S1052F	S	+	2	0	DOCK11	117632741	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.616000	0.46376	2.376000	0.81061	0.544000	0.68410	TCT	DOCK11	-	NULL		0.328	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	DOCK11	HGNC	protein_coding	OTTHUMT00000356002.1	C	NM_144658		117748713	+1	no_errors	ENST00000276202	ensembl	human	known	70_37	missense	SNP	1.000	T
DONSON	29980	genome.wustl.edu	37	21	34951825	34951825	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr21:34951825C>G	ENST00000303071.5	-	9	1460	c.1394G>C	c.(1393-1395)aGa>aCa	p.R465T	DONSON_ENST00000303113.6_Missense_Mutation_p.R451T|DONSON_ENST00000432378.1_Intron|DONSON_ENST00000453626.1_Intron	NM_017613.3	NP_060083.1	Q9NYP3	DONS_HUMAN	downstream neighbor of SON	465					multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						AAATTGGTCTCTGTATCCAGA	0.408																																																	0													149.0	134.0	139.0					21																	34951825		2203	4300	6503	SO:0001583	missense	29980			AF000002	CCDS13632.1	21q22.1	2008-07-31			ENSG00000159147	ENSG00000159147			2993	protein-coding gene	gene with protein product		611428		C21orf60		10773462, 10950926	Standard	NM_017613		Approved	B17, C2TA, DKFZP434M035	uc002ysk.4	Q9NYP3	OTTHUMG00000065904	ENST00000303071.5:c.1394G>C	21.37:g.34951825C>G	ENSP00000307143:p.Arg465Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC53|Q9NSR9|Q9NVZ5|Q9NYP1|Q9NYP2	Missense_Mutation	SNP	NULL	p.R465T	ENST00000303071.5	37	c.1394	CCDS13632.1	21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.97|13.97	2.396613|2.396613	0.42512|0.42512	.|.	.|.	ENSG00000159147|ENSG00000159147	ENST00000437395|ENST00000303113;ENST00000303071	.|.	.|.	.|.	5.82|5.82	-2.38|-2.38	0.06622|0.06622	.|.	.|0.439493	.|0.27956	.|N	.|0.017169	T|T	0.47060|0.47060	0.1425|0.1425	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	.|B;B	.|0.14805	.|0.011;0.011	.|B;B	.|0.17979	.|0.02;0.02	T|T	0.22208|0.22208	-1.0223|-1.0223	5|9	.|0.18710	.|T	.|0.47	-5.9612|-5.9612	11.4079|11.4079	0.49908|0.49908	0.0:0.442:0.0:0.558|0.0:0.442:0.0:0.558	.|.	.|451;465	.|F8W8A5;Q9NYP3	.|.;DONS_HUMAN	Q|T	436|451;465	.|.	.|ENSP00000307143:R465T	E|R	-|-	1|2	0|0	DONSON|DONSON	33873695|33873695	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.776000|0.776000	0.43924|0.43924	1.356000|1.356000	0.34079|0.34079	-0.697000|-0.697000	0.05092|0.05092	-0.373000|-0.373000	0.07131|0.07131	GAG|AGA	DONSON	-	NULL		0.408	DONSON-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DONSON	HGNC	protein_coding	OTTHUMT00000141184.1	C	NM_017613		34951825	-1	no_errors	ENST00000303071	ensembl	human	known	70_37	missense	SNP	0.987	G
DSG3	1830	genome.wustl.edu	37	18	29045334	29045334	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr18:29045334C>G	ENST00000257189.4	+	10	1408	c.1325C>G	c.(1324-1326)gCt>gGt	p.A442G		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	442	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCAAAAACTGCTGAAATCAAA	0.313																																																	0													79.0	85.0	83.0					18																	29045334		2203	4300	6503	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1325C>G	18.37:g.29045334C>G	ENSP00000257189:p.Ala442Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.A442G	ENST00000257189.4	37	c.1325	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	C	3.337	-0.135395	0.06711	.	.	ENSG00000134757	ENST00000257189	T	0.40756	1.02	5.82	3.96	0.45880	Cadherin (3);Cadherin-like (1);	0.134614	0.32952	N	0.005458	T	0.17280	0.0415	N	0.01751	-0.74	0.36111	D	0.844819	B	0.10296	0.003	B	0.13407	0.009	T	0.28459	-1.0043	10	0.02654	T	1	.	16.2978	0.82784	0.0:0.6279:0.3721:0.0	.	442	P32926	DSG3_HUMAN	G	442	ENSP00000257189:A442G	ENSP00000257189:A442G	A	+	2	0	DSG3	27299332	1.000000	0.71417	0.917000	0.36280	0.950000	0.60333	1.427000	0.34881	0.737000	0.32582	0.467000	0.42956	GCT	DSG3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.313	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	C	NM_001944		29045334	+1	no_errors	ENST00000257189	ensembl	human	known	70_37	missense	SNP	0.992	G
DSG3	1830	genome.wustl.edu	37	18	29045341	29045341	+	Missense_Mutation	SNP	C	C	G	rs141972001		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr18:29045341C>G	ENST00000257189.4	+	10	1415	c.1332C>G	c.(1330-1332)atC>atG	p.I444M		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	444	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGCTGAAATCAAATTTGTCA	0.308																																																	0													77.0	83.0	81.0					18																	29045341		2203	4297	6500	SO:0001583	missense	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1332C>G	18.37:g.29045341C>G	ENSP00000257189:p.Ile444Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2V2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.I444M	ENST00000257189.4	37	c.1332	CCDS11898.1	18	.	.	.	.	.	.	.	.	.	.	C	16.89	3.246443	0.59103	.	.	ENSG00000134757	ENST00000257189	T	0.66099	-0.19	5.82	1.34	0.21922	Cadherin (3);Cadherin-like (1);	0.000000	0.49916	D	0.000136	T	0.79690	0.4489	M	0.94063	3.49	0.32055	N	0.596452	D	0.89917	1.0	D	0.85130	0.997	T	0.78484	-0.2186	10	0.87932	D	0	.	5.327	0.15913	0.2699:0.5142:0.0:0.2159	.	444	P32926	DSG3_HUMAN	M	444	ENSP00000257189:I444M	ENSP00000257189:I444M	I	+	3	3	DSG3	27299339	0.983000	0.35010	1.000000	0.80357	0.950000	0.60333	0.193000	0.17116	0.339000	0.23719	0.467000	0.42956	ATC	DSG3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.308	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	C	NM_001944		29045341	+1	no_errors	ENST00000257189	ensembl	human	known	70_37	missense	SNP	0.998	G
DSG3	1830	genome.wustl.edu	37	18	29045395	29045395	+	Silent	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr18:29045395C>T	ENST00000257189.4	+	10	1469	c.1386C>T	c.(1384-1386)atC>atT	p.I462I		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	462	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACAAAACAATCACAGCTGAGG	0.313																																																	0													64.0	68.0	66.0					18																	29045395		2203	4300	6503	SO:0001819	synonymous_variant	1830			M76482	CCDS11898.1	18q12.1	2010-06-24	2010-06-24		ENSG00000134757	ENSG00000134757		"""Cadherins / Major cadherins"""	3050	protein-coding gene	gene with protein product	"""pemphigus vulgaris antigen"""	169615	"""desmoglein 3 (pemphigus vulgaris antigen)"""			1601426	Standard	NM_001944		Approved	CDHF6	uc002kws.3	P32926	OTTHUMG00000131985	ENST00000257189.4:c.1386C>T	18.37:g.29045395C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2V2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin	p.I462	ENST00000257189.4	37	c.1386	CCDS11898.1	18																																																																																			DSG3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.313	DSG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSG3	HGNC	protein_coding	OTTHUMT00000254949.1	C	NM_001944		29045395	+1	no_errors	ENST00000257189	ensembl	human	known	70_37	silent	SNP	1.000	T
DUS3L	56931	genome.wustl.edu	37	19	5787352	5787352	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:5787352C>T	ENST00000309061.7	-	7	1329	c.1233G>A	c.(1231-1233)atG>atA	p.M411I	CTB-54O9.9_ENST00000586012.1_5'Flank|PRR22_ENST00000419421.2_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.M169I|DUS3L_ENST00000590681.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	411							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TGGAGCGATTCATGAGGGCAC	0.672																																																	0													63.0	73.0	70.0					19																	5787352		2203	4300	6503	SO:0001583	missense	56931				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1233G>A	19.37:g.5787352C>T	ENSP00000311977:p.Met411Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	pfam_tRNA_hU_synthase	p.M411I	ENST00000309061.7	37	c.1233	CCDS32880.1	19	.	.	.	.	.	.	.	.	.	.	c	12.78	2.041853	0.35989	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.32023	1.47;1.47	4.17	3.08	0.35506	Aldolase-type TIM barrel (1);	0.044063	0.85682	N	0.000000	T	0.41026	0.1141	M	0.85041	2.73	0.41232	D	0.986589	B;B	0.28933	0.228;0.063	B;B	0.34931	0.192;0.056	T	0.42515	-0.9447	10	0.59425	D	0.04	-21.2574	11.2701	0.49133	0.0:0.8126:0.1874:0.0	.	169;411	Q96G46-3;Q96G46	.;DUS3L_HUMAN	I	411;169	ENSP00000311977:M411I;ENSP00000315558:M169I	ENSP00000311977:M411I	M	-	3	0	DUS3L	5738352	1.000000	0.71417	0.977000	0.42913	0.335000	0.28730	7.076000	0.76806	0.696000	0.31696	0.437000	0.28790	ATG	DUS3L	-	pfam_tRNA_hU_synthase		0.672	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS3L	HGNC	protein_coding	OTTHUMT00000451870.2	C	NM_020175		5787352	-1	no_errors	ENST00000309061	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF788	388507	genome.wustl.edu	37	19	12222435	12222435	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:12222435G>C	ENST00000339302.4	+	3	710	c.73G>C	c.(73-75)Gag>Cag	p.E25Q	ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000430298.2_3'UTR|ZNF788_ENST00000596883.1_3'UTR|ZNF788_ENST00000397759.3_5'Flank			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788	25					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(1)|haematopoietic_and_lymphoid_tissue(1)	2						GCTCACTCTGGAGGGAACCCC	0.398																																					Melanoma(116;440 1644 18510 25456 49479)												0																																										SO:0001583	missense	0			AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.73G>C	19.37:g.12222435G>C	ENSP00000342021:p.Glu25Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZRE4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E25Q	ENST00000339302.4	37	c.73		19	.	.	.	.	.	.	.	.	.	.	G	5.400	0.259006	0.10239	.	.	ENSG00000188474	ENST00000339302	T	0.09163	3.01	0.82	0.82	0.18793	.	.	.	.	.	T	0.05960	0.0155	.	.	.	.	.	.	P	0.41214	0.742	B	0.23574	0.047	T	0.22556	-1.0213	7	0.54805	T	0.06	.	9.2003	0.37254	0.0:0.0:1.0:0.0	.	25	Q6ZQV5	ZN788_HUMAN	Q	25	ENSP00000342021:E25Q	ENSP00000342021:E25Q	E	+	1	0	AC022415.1	12083435	0.000000	0.05858	0.005000	0.12908	0.019000	0.09904	-0.299000	0.08254	0.759000	0.33084	0.306000	0.20318	GAG	ZNF788	-	NULL		0.398	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000188474	Uniprot_genename	protein_coding		G	XM_930581		12222435	+1	no_errors	ENST00000339302	ensembl	human	known	70_37	missense	SNP	0.887	C
LOC728715	728715	genome.wustl.edu	37	12	9720633	9720633	+	RNA	SNP	G	G	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:9720633G>T	ENST00000520314.1	+	0	4876																											ataatagacagatacgactcc	0.423																																																	0																																												0																															12.37:g.9720633G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000520314.1	37	NULL		12																																																																																			RP11-726G1.1	-	-		0.423	RP11-726G1.1-002	KNOWN	basic	processed_transcript	ENSG00000214776	Clone_based_vega_gene	pseudogene	OTTHUMT00000381543.1	G			9720633	+1	no_errors	ENST00000520314	ensembl	human	known	70_37	rna	SNP	0.000	T
RPL37P6	346950	genome.wustl.edu	37	8	57501152	57501152	+	RNA	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:57501152C>T	ENST00000464216.1	+	0	209																											CAGAACTGGTCAAATGAGGCA	0.458																																																	0																																												0																															8.37:g.57501152C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000464216.1	37	NULL		8																																																																																			RP11-17A4.1	-	-		0.458	RP11-17A4.1-002	KNOWN	basic	processed_transcript	ENSG00000241431	Clone_based_vega_gene	pseudogene	OTTHUMT00000351465.1	C			57501152	+1	no_errors	ENST00000464216	ensembl	human	known	70_37	rna	SNP	1.000	T
TRAPPC13	80006	genome.wustl.edu	37	5	64925596	64925596	+	Intron	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:64925596C>T	ENST00000399438.3	+	1	391				TRAPPC13_ENST00000545191.1_Intron|CTC-534A2.2_ENST00000510585.2_Missense_Mutation_p.S61F|TRAPPC13_ENST00000438419.2_Intron|TRAPPC13_ENST00000505553.1_Intron|TRAPPC13_ENST00000231526.4_Intron	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2	A5PLN9	TPC13_HUMAN	trafficking protein particle complex 13																		CCTGTGATTTCTGAAGAGGCA	0.408																																																	0																																										SO:0001627	intron_variant	0				CCDS47221.1, CCDS47222.1, CCDS47223.1, CCDS58950.1	5q12.3	2013-01-31	2013-01-24	2013-01-24	ENSG00000113597	ENSG00000113597			25828	protein-coding gene	gene with protein product	"""Trs65-related"""		"""chromosome 5 open reading frame 44"""	C5orf44		12477932	Standard	NM_024941		Approved	FLJ13611, FLJ26957, MGC48585	uc010iwu.1	A5PLN9	OTTHUMG00000163649	ENST00000399438.3:c.46+4663C>T	5.37:g.64925596C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RZ9|Q49A23|Q4JHG0|Q6MZG4|Q8TCM2|Q9H8I3	Missense_Mutation	SNP	NULL	p.S61F	ENST00000399438.3	37	c.182	CCDS47222.1	5	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226894	0.58668	.	.	ENSG00000253251	ENST00000510585	.	.	.	5.21	5.21	0.72293	.	.	.	.	.	D	0.82728	0.5100	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.82857	-0.0250	7	0.52906	T	0.07	.	19.3101	0.94184	0.0:1.0:0.0:0.0	.	61	Q6ZNX1	.	F	61	.	ENSP00000424007:S61F	S	+	2	0	CTC-534A2.2	64961352	1.000000	0.71417	0.998000	0.56505	0.864000	0.49448	4.128000	0.57951	2.868000	0.98415	0.557000	0.71058	TCT	CTC-534A2.2	-	NULL		0.408	TRAPPC13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000253251	Clone_based_vega_gene	protein_coding	OTTHUMT00000370113.1	C	NM_024941		64925596	+1	no_errors	ENST00000510585	ensembl	human	putative	70_37	missense	SNP	0.999	T
IQSEC3	440073	genome.wustl.edu	37	12	274730	274730	+	Intron	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:274730G>C	ENST00000538872.1	+	10	2927				RP11-598F7.5_ENST00000540136.1_RNA|RP11-598F7.6_ENST00000537295.1_lincRNA|IQSEC3_ENST00000382841.2_Intron|IQSEC3_ENST00000326261.4_Intron			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3						actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GTAAGTCTTTGAGAAGGAATG	0.537																																																	0													78.0	75.0	76.0					12																	274730		2203	4300	6503	SO:0001627	intron_variant	0			AB029033	CCDS31725.1, CCDS53728.1	12p13.33	2014-03-18			ENSG00000120645	ENSG00000120645			29193	protein-coding gene	gene with protein product		612118				10470851	Standard	NM_001170738		Approved	KIAA1110, MGC30156	uc001qhw.2	Q9UPP2	OTTHUMG00000167975	ENST00000538872.1:c.2809+31G>C	12.37:g.274730G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIF2|A6NKV9|Q8TB43	RNA	SNP	-	NULL	ENST00000538872.1	37	NULL	CCDS53728.1	12																																																																																			RP11-598F7.5	-	-		0.537	IQSEC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256694	Clone_based_vega_gene	protein_coding	OTTHUMT00000397382.3	G	XM_495902		274730	-1	no_errors	ENST00000540136	ensembl	human	known	70_37	rna	SNP	0.000	C
RP11-597A11.2	0	genome.wustl.edu	37	14	20151934	20151934	+	lincRNA	SNP	G	G	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr14:20151934G>T	ENST00000547175.1	+	0	529																											TTTGGTGGCTGCACCAAAACA	0.423																																																	0																																												0																															14.37:g.20151934G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000547175.1	37	NULL		14																																																																																			RP11-597A11.2	-	-		0.423	RP11-597A11.2-001	KNOWN	basic	lincRNA	ENSG00000257395	Clone_based_vega_gene	lincRNA	OTTHUMT00000409598.1	G			20151934	+1	no_errors	ENST00000547175	ensembl	human	known	70_37	rna	SNP	0.002	T
AMN	81693	genome.wustl.edu	37	14	103400276	103400276	+	IGR	SNP	G	G	T	rs546208956	byFrequency	TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr14:103400276G>T	ENST00000299155.5	+	0	1907				CDC42BPB_ENST00000361246.2_Intron|RP11-365N19.2_ENST00000560931.1_RNA	NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein						cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|excretion (GO:0007588)|Golgi to plasma membrane protein transport (GO:0043001)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGGACAACTGTCGCAACTGC	0.567																																																	0																																										SO:0001628	intergenic_variant	0			AF328788	CCDS9977.1	14q32.32	2014-09-17	2012-12-07		ENSG00000166126	ENSG00000166126			14604	protein-coding gene	gene with protein product		605799	"""amnionless homolog (mouse)"""			11279523	Standard	NM_030943		Approved	amnionless	uc001ymg.4	Q9BXJ7			14.37:g.103400276G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UX83	RNA	SNP	-	NULL	ENST00000299155.5	37	NULL	CCDS9977.1	14																																																																																			RP11-365N19.2	-	-		0.567	AMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000259515	Clone_based_vega_gene	protein_coding	OTTHUMT00000415704.1	G			103400276	+1	no_errors	ENST00000560931	ensembl	human	known	70_37	rna	SNP	0.000	T
EP300	2033	genome.wustl.edu	37	22	41547874	41547874	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr22:41547874C>G	ENST00000263253.7	+	15	4074	c.2855C>G	c.(2854-2856)tCa>tGa	p.S952*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	952					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGACAGGTATCAAATCCTCCA	0.478			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													103.0	104.0	103.0					22																	41547874		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2855C>G	22.37:g.41547874C>G	ENSP00000263253:p.Ser952*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S952*	ENST00000263253.7	37	c.2855	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	50	16.859398	0.99873	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.52	5.52	0.82312	.	0.000000	0.42821	D	0.000641	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-9.6091	19.4296	0.94759	0.0:1.0:0.0:0.0	.	.	.	.	X	952	.	ENSP00000263253:S952X	S	+	2	0	EP300	39877820	0.964000	0.33143	0.985000	0.45067	0.880000	0.50808	4.228000	0.58619	2.587000	0.87381	0.557000	0.71058	TCA	EP300	-	NULL		0.478	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41547874	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	0.981	G
EP300	2033	genome.wustl.edu	37	22	41562602	41562602	+	Splice_Site	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr22:41562602G>C	ENST00000263253.7	+	23	5025		c.e23-1		RNU6-375P_ENST00000517050.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300						apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TTTACATTTAGATTCGTCTGT	0.289			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													78.0	74.0	75.0					22																	41562602		2202	4295	6497	SO:0001630	splice_region_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.3807-1G>C	22.37:g.41562602G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKC2	Splice_Site	SNP	-	e23-1	ENST00000263253.7	37	c.3807-1	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702458	0.88924	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1518	0.98089	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	EP300	39892548	1.000000	0.71417	1.000000	0.80357	0.899000	0.52679	9.609000	0.98334	2.769000	0.95229	0.491000	0.48974	.	EP300	-	-		0.289	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429	Intron	41562602	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	splice_site	SNP	1.000	C
EPB41	2035	genome.wustl.edu	37	1	29386958	29386958	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:29386958G>A	ENST00000343067.4	+	15	2096	c.1969G>A	c.(1969-1971)Gaa>Aaa	p.E657K	EPB41_ENST00000347529.3_Intron|EPB41_ENST00000349460.4_Missense_Mutation_p.E434K|EPB41_ENST00000373798.1_Missense_Mutation_p.E657K|EPB41_ENST00000373797.1_Missense_Mutation_p.E643K|EPB41_ENST00000373800.3_Missense_Mutation_p.E415K|EPB41_ENST00000398863.2_Intron|EPB41_ENST00000356093.2_Missense_Mutation_p.E624K	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1	657	Spectrin--actin-binding.				actin cytoskeleton organization (GO:0030036)|blood circulation (GO:0008015)|cortical actin cytoskeleton organization (GO:0030866)|positive regulation of protein binding (GO:0032092)	cortical cytoskeleton (GO:0030863)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	1-phosphatidylinositol binding (GO:0005545)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ACTAGATGGTGAAAACATTTA	0.338																																																	0													103.0	100.0	101.0					1																	29386958		2203	4300	6503	SO:0001583	missense	2035			BC039079	CCDS330.1, CCDS331.1, CCDS332.1, CCDS53288.1, CCDS53289.1	1p33-p32	2014-05-09	2014-05-09		ENSG00000159023	ENSG00000159023			3377	protein-coding gene	gene with protein product		130500	"""elliptocytosis 1, RH-linked"""	EL1			Standard	NM_001166005		Approved	4.1R	uc001brm.2	P11171	OTTHUMG00000003644	ENST00000343067.4:c.1969G>A	1.37:g.29386958G>A	ENSP00000345259:p.Glu657Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALH8|B1ALH9|D3DPM9|D3DPN0|P11176|Q14245|Q5TB35|Q5VXN8|Q8IXV9|Q9Y578|Q9Y579	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.E657K	ENST00000343067.4	37	c.1969	CCDS53288.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.344604	0.82022	.	.	ENSG00000159023	ENST00000343067;ENST00000356093;ENST00000398865;ENST00000349460;ENST00000373800;ENST00000373798;ENST00000373797	D;D;D;D;D;D	0.87103	-2.0;-2.15;-2.09;-2.03;-2.0;-2.21	6.07	6.07	0.98685	.	0.454435	0.26780	N	0.022522	D	0.89476	0.6726	L	0.48642	1.525	0.80722	D	1	B;D;P;D;B	0.55605	0.212;0.965;0.905;0.972;0.199	B;P;P;P;B	0.53912	0.097;0.487;0.487;0.737;0.076	D	0.87810	0.2631	10	0.40728	T	0.16	.	19.6475	0.95784	0.0:0.0:1.0:0.0	.	657;624;643;415;434	P11171;P11171-2;P11171-7;P11171-4;P11171-3	41_HUMAN;.;.;.;.	K	657;624;643;434;415;657;643	ENSP00000345259:E657K;ENSP00000348397:E624K;ENSP00000317597:E434K;ENSP00000362906:E415K;ENSP00000362904:E657K;ENSP00000362903:E643K	ENSP00000345259:E657K	E	+	1	0	EPB41	29259545	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.885000	0.99019	0.655000	0.94253	GAA	EPB41	-	pirsf_Band_41_protein		0.338	EPB41-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41	HGNC	protein_coding	OTTHUMT00000010312.1	G	NM_203342		29386958	+1	no_errors	ENST00000343067	ensembl	human	known	70_37	missense	SNP	1.000	A
EPHB4	2050	genome.wustl.edu	37	7	100414872	100414872	+	Silent	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:100414872G>A	ENST00000358173.3	-	8	1998	c.1530C>T	c.(1528-1530)cgC>cgT	p.R510R	EPHB4_ENST00000360620.3_Silent_p.R510R|EPHB4_ENST00000477446.1_Intron	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	510	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R510R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGGCCTCAGAGCGCGCCCGTA	0.667																																					GBM(200;2113 3072 25865 52728)												1	Substitution - coding silent(1)	stomach(1)											20.0	21.0	20.0					7																	100414872		2203	4298	6501	SO:0001819	synonymous_variant	2050			AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.1530C>T	7.37:g.100414872G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R510	ENST00000358173.3	37	c.1530	CCDS5706.1	7																																																																																			EPHB4	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.667	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB4	HGNC	protein_coding	OTTHUMT00000347222.1	G	NM_004444		100414872	-1	no_errors	ENST00000358173	ensembl	human	known	70_37	silent	SNP	0.994	A
EPHX3	79852	genome.wustl.edu	37	19	15342841	15342841	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:15342841C>T	ENST00000221730.3	-	1	402	c.182G>A	c.(181-183)aGc>aAc	p.S61N	EPHX3_ENST00000435261.1_Missense_Mutation_p.S61N|EPHX3_ENST00000602233.1_Missense_Mutation_p.S61N	NM_024794.2	NP_079070.1	Q9H6B9	EPHX3_HUMAN	epoxide hydrolase 3	61						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GGGGGACGCGCTCCGACGGCG	0.741																																																	0													5.0	7.0	6.0					19																	15342841		1854	3886	5740	SO:0001583	missense	79852			AK026061	CCDS12327.1	19p13.13	2011-10-05	2009-04-06	2009-04-06	ENSG00000105131	ENSG00000105131		"""Abhydrolase domain containing"""	23760	protein-coding gene	gene with protein product			"""abhydrolase domain containing 9"""	ABHD9			Standard	NM_024794		Approved	FLJ22408	uc002nap.3	Q9H6B9		ENST00000221730.3:c.182G>A	19.37:g.15342841C>T	ENSP00000221730:p.Ser61Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KMR3	Missense_Mutation	SNP	pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1	p.S61N	ENST00000221730.3	37	c.182	CCDS12327.1	19	.	.	.	.	.	.	.	.	.	.	C	5.677	0.309512	0.10733	.	.	ENSG00000105131	ENST00000221730;ENST00000435261	T;T	0.63417	-0.04;-0.04	4.01	0.116	0.14647	.	1.824940	0.03291	U	0.187615	T	0.44393	0.1291	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.13469	-1.0508	10	0.26408	T	0.33	-0.4589	2.4881	0.04603	0.1898:0.5129:0.185:0.1123	.	61	Q9H6B9	EPHX3_HUMAN	N	61	ENSP00000221730:S61N;ENSP00000410323:S61N	ENSP00000221730:S61N	S	-	2	0	EPHX3	15203841	0.000000	0.05858	0.008000	0.14137	0.010000	0.07245	-0.141000	0.10327	0.135000	0.18707	0.491000	0.48974	AGC	EPHX3	-	NULL		0.741	EPHX3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EPHX3	HGNC	protein_coding	OTTHUMT00000465797.1	C	NM_024794		15342841	-1	no_errors	ENST00000221730	ensembl	human	known	70_37	missense	SNP	0.000	T
LOC101929008	101929008	genome.wustl.edu	37	16	90168697	90168697	+	lincRNA	DEL	A	A	-	rs58731535|rs12447065|rs544421598	byFrequency	TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:90168697delA	ENST00000562203.1	-	0	832																											TGgcggcggcagcagcagcag	0.557																																																	0																																												100996541																															16.37:g.90168697delA		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000562203.1	37	NULL		16																																																																																			FAM157C	-	-		0.557	RP11-356C4.3-001	KNOWN	basic	lincRNA	FAM157C	HGNC	lincRNA	OTTHUMT00000420874.1	A			90168697	+1	no_errors	ENST00000563357	ensembl	human	known	70_37	rna	DEL	0.019	-
FAM206A	54942	genome.wustl.edu	37	9	111701683	111701683	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:111701683G>C	ENST00000322940.6	+	5	663	c.357G>C	c.(355-357)ttG>ttC	p.L119F	FAM206A_ENST00000374624.3_Intron	NM_017832.3	NP_060302.1	Q9NX38	F206A_HUMAN	family with sequence similarity 206, member A	119						nucleus (GO:0005634)											GAGGACGTTTGATGGAAGTGA	0.294																																																	0													43.0	45.0	44.0					9																	111701683		2201	4300	6501	SO:0001583	missense	54942			BC015795	CCDS6774.1	9q31	2011-08-15	2011-08-15	2011-08-15	ENSG00000119328	ENSG00000119328			1364	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 6"""	C9orf6			Standard	NM_017832		Approved	CG-8, FLJ20457	uc004bdn.3	Q9NX38	OTTHUMG00000020467	ENST00000322940.6:c.357G>C	9.37:g.111701683G>C	ENSP00000363753:p.Leu119Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JTR0|Q5JTR1	Missense_Mutation	SNP	pfam_GCV_H,superfamily_Single_hybrid_motif	p.L119F	ENST00000322940.6	37	c.357	CCDS6774.1	9	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065344	0.55432	.	.	ENSG00000119328	ENST00000322940;ENST00000445175	T;T	0.50277	0.75;0.75	5.9	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.68842	0.3045	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.67440	-0.5670	10	0.72032	D	0.01	.	5.9115	0.19031	0.2298:0.1372:0.633:0.0	.	119	Q9NX38	F206A_HUMAN	F	119;84	ENSP00000363753:L119F;ENSP00000398018:L84F	ENSP00000363753:L119F	L	+	3	2	C9orf6	110741504	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	0.879000	0.28146	0.378000	0.24764	0.563000	0.77884	TTG	FAM206A	-	pfam_GCV_H,superfamily_Single_hybrid_motif		0.294	FAM206A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM206A	HGNC	protein_coding	OTTHUMT00000053582.1	G	NM_017832		111701683	+1	no_errors	ENST00000322940	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM78A	286336	genome.wustl.edu	37	9	134134488	134134488	+	3'UTR	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:134134488G>C	ENST00000372271.3	-	0	2940				FAM78A_ENST00000372269.3_3'UTR|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A											NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		ATCTGCAGCAGAAATGGATTA	0.517																																																	0																																										SO:0001624	3_prime_UTR_variant	286336			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.*1721C>G	9.37:g.134134488G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VQ9|Q9H7P4	RNA	SNP	-	NULL	ENST00000372271.3	37	NULL	CCDS6941.2	9																																																																																			FAM78A	-	-		0.517	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78A	HGNC	protein_coding	OTTHUMT00000054720.1	G	NM_033387		134134488	-1	no_errors	ENST00000247295	ensembl	human	known	70_37	rna	SNP	0.096	C
FAM78A	286336	genome.wustl.edu	37	9	134134543	134134543	+	3'UTR	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:134134543G>C	ENST00000372271.3	-	0	2885				FAM78A_ENST00000372269.3_3'UTR|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A											NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TTATTAGGCTGAGTGTGGGTC	0.532																																																	0																																										SO:0001624	3_prime_UTR_variant	286336			AK095423	CCDS6941.2	9q34	2008-02-05	2005-07-18	2005-07-18	ENSG00000126882	ENSG00000126882			25465	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 59"""	C9orf59		11214971	Standard	NM_033387		Approved	FLJ00024	uc004cak.3	Q5JUQ0	OTTHUMG00000020821	ENST00000372271.3:c.*1666C>G	9.37:g.134134543G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VQ9|Q9H7P4	RNA	SNP	-	NULL	ENST00000372271.3	37	NULL	CCDS6941.2	9																																																																																			FAM78A	-	-		0.532	FAM78A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM78A	HGNC	protein_coding	OTTHUMT00000054720.1	G	NM_033387		134134543	-1	no_errors	ENST00000247295	ensembl	human	known	70_37	rna	SNP	0.000	C
FAM90A27P	646508	genome.wustl.edu	37	19	53787462	53787462	+	RNA	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:53787462C>T	ENST00000599085.1	+	0	356					NR_046365.1		A6NNH2	F90AR_HUMAN	family with sequence similarity 90, member A27, pseudogene								nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)										TGAAGAGCTCCCACCAGACCC	0.617																																																	0																																												646508					19q13.42	2014-03-18			ENSG00000189348	ENSG00000189348			43617	pseudogene	pseudogene							Standard	NR_046365		Approved		uc031rmv.1	A6NNH2	OTTHUMG00000182909		19.37:g.53787462C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000599085.1	37	NULL		19																																																																																			FAM90A27P	-	-		0.617	FAM90A27P-002	KNOWN	basic	processed_transcript	FAM90A27P	HGNC	pseudogene	OTTHUMT00000464290.1	C	NR_046365		53787462	+1	no_errors	ENST00000599085	ensembl	human	known	70_37	rna	SNP	0.001	T
FBXL14	144699	genome.wustl.edu	37	12	1703090	1703090	+	Missense_Mutation	SNP	A	A	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:1703090A>C	ENST00000339235.3	-	1	241	c.143T>G	c.(142-144)gTg>gGg	p.V48G	FBXL14_ENST00000543278.1_5'Flank|WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	48	F-box.|Required for down-regulation of SNAI1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CTTGGCCTCCACCCCCCGCCA	0.731																																																	0													7.0	9.0	8.0					12																	1703090		2147	4245	6392	SO:0001583	missense	144699			BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"""F-boxes / Leucine-rich repeats"""	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.143T>G	12.37:g.1703090A>C	ENSP00000344855:p.Val48Gly	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_F-box_dom_cyclin-like,pfam_Leu-rich_rpt_2,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp	p.V48G	ENST00000339235.3	37	c.143	CCDS8509.1	12	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263601	0.59431	.	.	ENSG00000171823	ENST00000339235	T	0.56776	0.44	4.03	4.03	0.46877	F-box domain, cyclin-like (1);	0.155201	0.43260	D	0.000588	T	0.74913	0.3779	M	0.93678	3.445	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.78001	-0.2375	10	0.87932	D	0	.	6.3942	0.21603	0.8088:0.0:0.1912:0.0	.	48	Q8N1E6	FXL14_HUMAN	G	48	ENSP00000344855:V48G	ENSP00000344855:V48G	V	-	2	0	FBXL14	1573351	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.648000	0.83479	1.684000	0.51022	0.254000	0.18369	GTG	FBXL14	-	NULL		0.731	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL14	HGNC	protein_coding	OTTHUMT00000206741.1	A	NM_152441		1703090	-1	no_errors	ENST00000339235	ensembl	human	known	70_37	missense	SNP	1.000	C
FBXO33	254170	genome.wustl.edu	37	14	39870958	39870958	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr14:39870958G>C	ENST00000298097.7	-	3	1155	c.818C>G	c.(817-819)tCt>tGt	p.S273C	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	273					protein ubiquitination (GO:0016567)					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		AACAGCATTAGAGAGAGATGA	0.428																																																	0													84.0	83.0	83.0					14																	39870958		2203	4300	6503	SO:0001583	missense	254170			BI460761	CCDS9677.1	14q13.3	2004-08-24	2004-06-15		ENSG00000165355	ENSG00000165355		"""F-boxes /  ""other"""""	19833	protein-coding gene	gene with protein product		609103	"""F-box only protein 33"""				Standard	NM_203301		Approved	Fbx33	uc001wvk.3	Q7Z6M2	OTTHUMG00000140257	ENST00000298097.7:c.818C>G	14.37:g.39870958G>C	ENSP00000298097:p.Ser273Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PIR2|Q86TR2|Q86YE0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S273C	ENST00000298097.7	37	c.818	CCDS9677.1	14	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184551	0.78677	.	.	ENSG00000165355	ENST00000298097	T	0.00995	5.46	5.91	5.91	0.95273	.	0.119220	0.64402	D	0.000015	T	0.01695	0.0054	L	0.32530	0.975	0.80722	D	1	P	0.50710	0.938	P	0.45946	0.498	T	0.77148	-0.2694	9	.	.	.	1.1916	20.2983	0.98569	0.0:0.0:1.0:0.0	.	273	Q7Z6M2	FBX33_HUMAN	C	273	ENSP00000298097:S273C	.	S	-	2	0	FBXO33	38940709	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.292000	0.96076	2.802000	0.96397	0.655000	0.94253	TCT	FBXO33	-	NULL		0.428	FBXO33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO33	HGNC	protein_coding	OTTHUMT00000276769.2	G			39870958	-1	no_errors	ENST00000298097	ensembl	human	known	70_37	missense	SNP	1.000	C
FHAD1	114827	genome.wustl.edu	37	1	15707266	15707266	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:15707266G>A	ENST00000375998.4	+	27	3709	c.3709G>A	c.(3709-3711)Gag>Aag	p.E1237K	FHAD1_ENST00000358897.4_Missense_Mutation_p.E1237K|FHAD1_ENST00000375999.3_Missense_Mutation_p.E1237K|FHAD1_ENST00000471347.1_3'UTR|FHAD1_ENST00000417793.1_Missense_Mutation_p.E1201K|FHAD1_ENST00000314740.8_Missense_Mutation_p.E490K			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	1237										skin(1)|stomach(1)	2						GGATGTGGCTGAGGCTTTAGA	0.517																																																	0													67.0	64.0	65.0					1																	15707266		692	1591	2283	SO:0001583	missense	114827			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.3709G>A	1.37:g.15707266G>A	ENSP00000365166:p.Glu1237Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E1237K	ENST00000375998.4	37	c.3709		1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.929395	0.73327	.	.	ENSG00000142621	ENST00000358897;ENST00000417793;ENST00000375999;ENST00000375998;ENST00000529606;ENST00000314740;ENST00000314668	T;T;T;T;T;T;T	0.56611	0.46;0.46;0.45;0.46;0.51;0.53;0.51	5.35	5.35	0.76521	.	.	.	.	.	T	0.56848	0.2013	M	0.73598	2.24	0.32712	N	0.51142	P;P	0.49559	0.925;0.919	P;P	0.47162	0.54;0.45	T	0.61888	-0.6970	9	0.09338	T	0.73	.	14.9022	0.70687	0.0:0.0:1.0:0.0	.	490;1237	B7WPP2;B1AJZ9	.;FHAD1_HUMAN	K	1237;1201;1237;1237;508;490;472	ENSP00000351770:E1237K;ENSP00000407615:E1201K;ENSP00000365167:E1237K;ENSP00000365166:E1237K;ENSP00000434909:E508K;ENSP00000322979:E490K;ENSP00000318812:E472K	ENSP00000318812:E472K	E	+	1	0	FHAD1	15579853	0.996000	0.38824	0.923000	0.36655	0.357000	0.29423	4.369000	0.59511	2.655000	0.90218	0.655000	0.94253	GAG	FHAD1	-	NULL		0.517	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	FHAD1	HGNC	protein_coding	OTTHUMT00000393400.2	G	NM_052929		15707266	+1	no_errors	ENST00000375999	ensembl	human	known	70_37	missense	SNP	0.976	A
FDPS	2224	genome.wustl.edu	37	1	155288689	155288689	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:155288689C>G	ENST00000356657.6	+	8	978	c.816C>G	c.(814-816)ttC>ttG	p.F272L	RUSC1-AS1_ENST00000543656.1_RNA|FDPS_ENST00000368356.4_Missense_Mutation_p.F272L|FDPS_ENST00000447866.1_Missense_Mutation_p.F206L|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_5'Flank|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368352.5_5'Flank|RUSC1-AS1_ENST00000446880.1_RNA	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	272					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	TCTACTCCTTCTACCTTCCTA	0.512																																																	0													136.0	127.0	130.0					1																	155288689		2203	4300	6503	SO:0001583	missense	2224			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.816C>G	1.37:g.155288689C>G	ENSP00000349078:p.Phe272Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.F272L	ENST00000356657.6	37	c.816	CCDS1110.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974103	0.74246	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.66280	-0.2;-0.2;-0.2	4.32	2.34	0.29019	Terpenoid synthase (2);	0.150331	0.31392	N	0.007734	T	0.57021	0.2025	M	0.82716	2.605	0.49213	D	0.999769	B	0.31519	0.327	B	0.43331	0.416	T	0.62492	-0.6843	10	0.72032	D	0.01	-11.6765	6.844	0.23979	0.0:0.7415:0.0:0.2585	.	272	P14324	FPPS_HUMAN	L	206;272;272	ENSP00000391755:F206L;ENSP00000357340:F272L;ENSP00000349078:F272L	ENSP00000349078:F272L	F	+	3	2	FDPS	153555313	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.645000	0.37238	0.682000	0.31407	0.655000	0.94253	TTC	FDPS	-	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth		0.512	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	C	NM_002004		155288689	+1	no_errors	ENST00000356657	ensembl	human	known	70_37	missense	SNP	1.000	G
FKBP1A	2280	genome.wustl.edu	37	20	1350367	1350367	+	3'UTR	DEL	C	C	-	rs34401063	byFrequency	TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr20:1350367delC	ENST00000400137.4	-	0	876				SDCBP2-AS1_ENST00000609285.1_RNA|SDCBP2-AS1_ENST00000446423.1_RNA|SDCBP2-AS1_ENST00000609470.1_RNA|FKBP1A_ENST00000460490.1_5'UTR|FKBP1A_ENST00000381724.3_3'UTR	NM_000801.4	NP_000792.1	P62942	FKB1A_HUMAN	FK506 binding protein 1A, 12kDa						'de novo' protein folding (GO:0006458)|amyloid fibril formation (GO:1990000)|calcium ion transmembrane transport (GO:0070588)|chaperone-mediated protein folding (GO:0061077)|extracellular fibril organization (GO:0043206)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|protein peptidyl-prolyl isomerization (GO:0000413)|protein refolding (GO:0042026)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of amyloid precursor protein catabolic process (GO:1902991)|regulation of immune response (GO:0050776)|regulation of protein localization (GO:0032880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|SMAD protein complex assembly (GO:0007183)|T cell activation (GO:0042110)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|terminal cisterna (GO:0014802)|Z disc (GO:0030018)	activin binding (GO:0048185)|FK506 binding (GO:0005528)|ion channel binding (GO:0044325)|macrolide binding (GO:0005527)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|type I transforming growth factor beta receptor binding (GO:0034713)			central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3					Pimecrolimus(DB00337)|Sirolimus(DB00877)|Tacrolimus(DB00864)	ttCTTGCAAACCCCCCCCCCA	0.343													|||unknown(HR)	2510	0.501198	0.7882	0.4135	5008	,	,		13136	0.2054		0.4702	False		,,,				2504	0.5123																0																																										SO:0001624	3_prime_UTR_variant	2280			M92423	CCDS13014.1, CCDS74688.1	20p13	2013-03-20	2002-08-29		ENSG00000088832	ENSG00000088832			3711	protein-coding gene	gene with protein product	"""calstabin 1"""	186945	"""FK506-binding protein 1A (12kD)"""	FKBP1		1930186	Standard	NM_000801		Approved	FKBP-12, FKBP12, PKC12, PPIASE, FKBP12C	uc002wey.3	P62942	OTTHUMG00000031666	ENST00000400137.4:c.*386G>-	20.37:g.1350367delC		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVW6|P20071|Q4VC47|Q6FGD9|Q6LEU3|Q9H103|Q9H566	RNA	DEL	-	NULL	ENST00000400137.4	37	NULL	CCDS13014.1	20																																																																																			FKBP1A	-	-		0.343	FKBP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP1A	HGNC	protein_coding	OTTHUMT00000077534.2	C			1350367	-1	no_errors	ENST00000460490	ensembl	human	known	70_37	rna	DEL	0.107	-
FNDC3A	22862	genome.wustl.edu	37	13	49772229	49772229	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr13:49772229G>A	ENST00000492622.2	+	22	2907	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	FNDC3A_ENST00000398316.3_Missense_Mutation_p.E812K|FNDC3A_ENST00000541916.1_Missense_Mutation_p.E868K	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	868	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TGATGAGATAGAAAATCCCCA	0.458																																																	0													141.0	130.0	134.0					13																	49772229		2203	4300	6503	SO:0001583	missense	22862			AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2602G>A	13.37:g.49772229G>A	ENSP00000417257:p.Glu868Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E868K	ENST00000492622.2	37	c.2602	CCDS41886.1	13	.	.	.	.	.	.	.	.	.	.	G	11.79	1.742361	0.30865	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.36157	1.27;1.27;1.27	5.88	5.88	0.94601	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.152123	0.45606	D	0.000342	T	0.27731	0.0682	L	0.32530	0.975	0.51233	D	0.999919	B;B	0.16802	0.007;0.019	B;B	0.29353	0.053;0.101	T	0.06445	-1.0826	10	0.07482	T	0.82	-27.1902	12.5247	0.56079	0.0754:0.0:0.9246:0.0	.	812;868	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	K	868;804;868;812	ENSP00000417257:E868K;ENSP00000441831:E868K;ENSP00000381362:E812K	ENSP00000338579:E804K	E	+	1	0	FNDC3A	48670230	1.000000	0.71417	0.992000	0.48379	0.952000	0.60782	6.708000	0.74660	2.779000	0.95612	0.650000	0.86243	GAA	FNDC3A	-	smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC3A	HGNC	protein_coding	OTTHUMT00000354845.2	G	NM_014923		49772229	+1	no_errors	ENST00000492622	ensembl	human	known	70_37	missense	SNP	1.000	A
FPR3	2359	genome.wustl.edu	37	19	52328001	52328001	+	Missense_Mutation	SNP	A	A	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:52328001A>G	ENST00000339223.4	+	2	1179	c.1000A>G	c.(1000-1002)Acc>Gcc	p.T334A	FPR3_ENST00000595991.1_Missense_Mutation_p.T334A	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	334					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						CTCAGCCCAGACCAGCAACAC	0.512																																																	0													60.0	54.0	56.0					19																	52328001		2203	4300	6503	SO:0001583	missense	2359				CCDS12841.1	19q13.3-q13.4	2012-08-08	2008-04-17	2008-04-17		ENSG00000187474		"""GPCR / Class A : Formyl peptide receptors"""	3828	protein-coding gene	gene with protein product		136539	"""formyl peptide receptor-like 2"""	FPRL2		1612600, 8198572	Standard	NM_002030		Approved	FPRH1, FMLPY, RMLP-R-I	uc002pxt.1	P25089		ENST00000339223.4:c.1000A>G	19.37:g.52328001A>G	ENSP00000341821:p.Thr334Ala	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Frt_met_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt	p.T334A	ENST00000339223.4	37	c.1000	CCDS12841.1	19	.	.	.	.	.	.	.	.	.	.	.	7.425	0.637486	0.14386	.	.	ENSG00000187474	ENST00000339223	T	0.37411	1.2	2.35	-0.143	0.13444	.	0.363429	0.23692	N	0.045508	T	0.32164	0.0820	M	0.83312	2.635	0.09310	N	1	B	0.12630	0.006	B	0.19148	0.024	T	0.29027	-1.0025	10	0.26408	T	0.33	.	2.108	0.03695	0.582:0.0:0.1642:0.2539	.	334	P25089	FPR3_HUMAN	A	334	ENSP00000341821:T334A	ENSP00000341821:T334A	T	+	1	0	FPR3	57019813	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.565000	0.05929	-0.267000	0.09325	0.260000	0.18958	ACC	FPR3	-	NULL		0.512	FPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FPR3	HGNC	protein_coding	OTTHUMT00000466914.1	A	NM_002030		52328001	+1	no_errors	ENST00000339223	ensembl	human	known	70_37	missense	SNP	0.000	G
FRAS1	80144	genome.wustl.edu	37	4	79308769	79308769	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:79308769G>C	ENST00000325942.6	+	29	4329	c.3889G>C	c.(3889-3891)Gac>Cac	p.D1297H	FRAS1_ENST00000264895.6_Missense_Mutation_p.D1297H	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1297					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGATGGTTCAGACAGCACATC	0.493																																																	0													67.0	63.0	65.0					4																	79308769		1979	4155	6134	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3889G>C	4.37:g.79308769G>C	ENSP00000326330:p.Asp1297His	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.D1297H	ENST00000325942.6	37	c.3889	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	G	15.67	2.902527	0.52227	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	T;T	0.31510	1.49;1.49	5.78	4.02	0.46733	.	0.422387	0.26453	N	0.024296	T	0.46034	0.1372	M	0.77820	2.39	0.42541	D	0.993072	D;D	0.63880	0.974;0.993	P;P	0.53062	0.717;0.672	T	0.50857	-0.8778	10	0.87932	D	0	.	10.8145	0.46567	0.0706:0.1316:0.7978:0.0	.	1297;1297	E9PHH6;A2RRR8	.;.	H	1297	ENSP00000326330:D1297H;ENSP00000264895:D1297H	ENSP00000264895:D1297H	D	+	1	0	FRAS1	79527793	0.975000	0.34042	0.014000	0.15608	0.737000	0.42083	3.168000	0.50801	0.864000	0.35578	0.591000	0.81541	GAC	FRAS1	-	NULL		0.493	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	G			79308769	+1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	0.149	C
GAS2L2	246176	genome.wustl.edu	37	17	34072389	34072389	+	Silent	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:34072389C>G	ENST00000254466.6	-	6	2154	c.2127G>C	c.(2125-2127)ctG>ctC	p.L709L	GAS2L2_ENST00000587565.1_Silent_p.L693L	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	709					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTTGGCACTCAGGCTTGCCT	0.647																																																	0													96.0	98.0	98.0					17																	34072389		2203	4300	6503	SO:0001819	synonymous_variant	246176			AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.2127G>C	17.37:g.34072389C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NHY4	Silent	SNP	pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain	p.L709	ENST00000254466.6	37	c.2127	CCDS11298.1	17																																																																																			GAS2L2	-	NULL		0.647	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAS2L2	HGNC	protein_coding	OTTHUMT00000256497.1	C	NM_139285		34072389	-1	no_errors	ENST00000254466	ensembl	human	known	70_37	silent	SNP	0.000	G
GLUD1	2746	genome.wustl.edu	37	10	88820784	88820784	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:88820784G>C	ENST00000277865.4	-	7	1043	c.947C>G	c.(946-948)tCt>tGt	p.S316C	GLUD1_ENST00000544149.1_Missense_Mutation_p.S183C|GLUD1_ENST00000537649.1_Missense_Mutation_p.S149C|GLUD1_ENST00000465164.1_5'UTR	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	316					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	ATATCTCATAGAGTGTAGGCC	0.388																																																	0													192.0	192.0	192.0					10																	88820784		2203	4300	6503	SO:0001583	missense	2746			M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.947C>G	10.37:g.88820784G>C	ENSP00000277865:p.Ser316Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.S316C	ENST00000277865.4	37	c.947	CCDS7382.1	10	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531957	0.64972	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.96334	-3.98;-3.98;-3.98	5.72	5.72	0.89469	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (2);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94295	0.8167	L	0.35593	1.075	0.80722	D	1	B;B	0.20671	0.027;0.047	B;B	0.27715	0.051;0.082	D	0.90071	0.4163	10	0.51188	T	0.08	-30.5821	20.3045	0.98621	0.0:0.0:1.0:0.0	.	183;316	B4DGN5;P00367	.;DHE3_HUMAN	C	316;273;149;15;248;183	ENSP00000277865:S316C;ENSP00000439291:S149C;ENSP00000444732:S183C	ENSP00000277865:S316C	S	-	2	0	GLUD1	88810764	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.975000	0.88055	2.878000	0.98634	0.650000	0.86243	TCT	GLUD1	-	pfam_Glu/Leu/Phe/Val_DH_C,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH		0.388	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD1	HGNC	protein_coding	OTTHUMT00000049188.1	G	NM_005271		88820784	-1	no_errors	ENST00000277865	ensembl	human	known	70_37	missense	SNP	1.000	C
GNE	10020	genome.wustl.edu	37	9	36246250	36246250	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:36246250G>A	ENST00000539815.1	-	2	434	c.394C>T	c.(394-396)Cac>Tac	p.H132Y	GNE_ENST00000377902.5_Missense_Mutation_p.H132Y|GNE_ENST00000543356.2_Missense_Mutation_p.H127Y|GNE_ENST00000396594.3_Missense_Mutation_p.H163Y|GNE_ENST00000447283.2_Missense_Mutation_p.H132Y|GNE_ENST00000539208.1_Missense_Mutation_p.H73Y			Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	132			H -> Q (in NM). {ECO:0000269|PubMed:12473753}.		carbohydrate phosphorylation (GO:0046835)|cell adhesion (GO:0007155)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate metabolic process (GO:0006054)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|metal ion binding (GO:0046872)|N-acylmannosamine kinase activity (GO:0009384)|UDP-N-acetylglucosamine 2-epimerase activity (GO:0008761)			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			CCTTCAATGTGAAGGATTCGG	0.488																																					GBM(184;106 2118 20004 35750 50727)												0													148.0	119.0	129.0					9																	36246250		2203	4300	6503	SO:0001583	missense	10020			AF051852	CCDS6602.1, CCDS47965.1, CCDS55308.1, CCDS55309.1, CCDS55310.1	9p13.1	2008-02-05	2003-12-01		ENSG00000159921	ENSG00000159921			23657	protein-coding gene	gene with protein product		603824	"""UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase"""	IBM2		9305887, 9305888	Standard	NM_005476		Approved	Uae1	uc010mli.3	Q9Y223	OTTHUMG00000019899	ENST00000539815.1:c.394C>T	9.37:g.36246250G>A	ENSP00000439155:p.His132Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6PZH2|A6PZH3|A7UNU7|B2R6E1|B7Z372|B7Z428|D3DRP7|F5H499|H0YFA7|Q0VA94	Missense_Mutation	SNP	pfam_UDP_GlcNAc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-GlcNAc_Epase	p.H163Y	ENST00000539815.1	37	c.487	CCDS6602.1	9	.	.	.	.	.	.	.	.	.	.	G	24.4	4.530689	0.85706	.	.	ENSG00000159921	ENST00000377902;ENST00000396594;ENST00000339267;ENST00000539815;ENST00000543356;ENST00000539208;ENST00000447283	D;D;D;D;D	0.99955	-8.83;-8.83;-8.83;-8.83;-8.83	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.99955	0.9981	M	0.89478	3.035	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999	D;D;D;D;D	0.91635	0.996;0.997;0.999;0.998;0.998	D	0.95550	0.8620	10	0.87932	D	0	-2.7842	17.0458	0.86502	0.0:0.0:1.0:0.0	.	73;91;163;132;132	F5H499;Q9Y223-3;Q9Y223-2;Q9Y223;A7UNU7	.;.;.;GLCNE_HUMAN;.	Y	132;163;127;132;104;73;132	ENSP00000367134:H132Y;ENSP00000379839:H163Y;ENSP00000439155:H132Y;ENSP00000445117:H73Y;ENSP00000414760:H132Y	ENSP00000340770:H127Y	H	-	1	0	GNE	36236250	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.930000	0.92872	2.623000	0.88846	0.467000	0.42956	CAC	GNE	-	pfam_UDP_GlcNAc_Epimerase_2,tigrfam_UDP-GlcNAc_Epase		0.488	GNE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GNE	HGNC	protein_coding	OTTHUMT00000052412.4	G	NM_005476		36246250	-1	no_errors	ENST00000396594	ensembl	human	known	70_37	missense	SNP	1.000	A
GNPTG	84572	genome.wustl.edu	37	16	1412897	1412897	+	Silent	SNP	G	G	T	rs377647926		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:1412897G>T	ENST00000204679.4	+	10	856	c.813G>T	c.(811-813)acG>acT	p.T271T	LA16c-316G12.2_ENST00000569831.1_RNA	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	271					carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				TCCCCTACACGAGGCCCACAG	0.557																																																	0													72.0	80.0	77.0					16																	1412897		2199	4300	6499	SO:0001819	synonymous_variant	84572			BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835	ENST00000204679.4:c.813G>T	16.37:g.1412897G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R556|Q6XYD7|Q96L13	Silent	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.T271	ENST00000204679.4	37	c.813	CCDS10436.1	16																																																																																			GNPTG	-	NULL		0.557	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNPTG	HGNC	protein_coding	OTTHUMT00000109058.2	G	NM_032520		1412897	+1	no_errors	ENST00000204679	ensembl	human	known	70_37	silent	SNP	0.000	T
GPR98	84059	genome.wustl.edu	37	5	89990515	89990515	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:89990515G>A	ENST00000405460.2	+	33	8038	c.7942G>A	c.(7942-7944)Gaa>Aaa	p.E2648K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2648	Calx-beta 18. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACCTTTGCTGAAGGTGAGCA	0.403																																																	0													64.0	67.0	66.0					5																	89990515		1902	4116	6018	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7942G>A	5.37:g.89990515G>A	ENSP00000384582:p.Glu2648Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E2648K	ENST00000405460.2	37	c.7942	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.174488	0.94807	.	.	ENSG00000164199	ENST00000405460;ENST00000296619	T	0.30182	1.54	5.51	5.51	0.81932	Na-Ca exchanger/integrin-beta4 (2);	0.096141	0.85682	D	0.000000	T	0.52629	0.1746	L	0.50333	1.59	0.80722	D	1	D;D	0.64830	0.994;0.994	D;D	0.73380	0.98;0.98	T	0.50742	-0.8792	10	0.72032	D	0.01	.	19.7861	0.96437	0.0:0.0:1.0:0.0	.	2648;2648	E7ETI5;Q8WXG9	.;GPR98_HUMAN	K	2648	ENSP00000384582:E2648K	ENSP00000296619:E2648K	E	+	1	0	GPR98	90026271	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.519000	0.98025	2.744000	0.94065	0.655000	0.94253	GAA	GPR98	-	pfam_Calx_beta,smart_Calx_beta		0.403	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		89990515	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	A
GPRC5A	9052	genome.wustl.edu	37	12	13061822	13061822	+	Silent	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:13061822C>T	ENST00000014914.5	+	2	1529	c.639C>T	c.(637-639)atC>atT	p.I213I	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, class C, group 5, member A	213					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	GGGCCCACATCTACCTCACGA	0.567																																																	0													218.0	192.0	201.0					12																	13061822		2203	4300	6503	SO:0001819	synonymous_variant	9052			AF095448	CCDS8657.1	12p13-p12.3	2014-01-30	2014-01-30	2005-05-03		ENSG00000013588		"""GPCR / Class C : Orphans"""	9836	protein-coding gene	gene with protein product		604138	"""retinoic acid induced 3"", ""G protein-coupled receptor, family C, group 5, member A"""	RAI3, GPCR5A		9857033	Standard	NM_003979		Approved	RAIG1	uc001rba.3	Q8NFJ5		ENST00000014914.5:c.639C>T	12.37:g.13061822C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV45|O95357	Silent	SNP	pfam_GPCR_3_C	p.I213	ENST00000014914.5	37	c.639	CCDS8657.1	12																																																																																			GPRC5A	-	pfam_GPCR_3_C		0.567	GPRC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRC5A	HGNC	protein_coding	OTTHUMT00000400682.1	C			13061822	+1	no_errors	ENST00000014914	ensembl	human	known	70_37	silent	SNP	0.984	T
GRIK4	2900	genome.wustl.edu	37	11	120702685	120702685	+	Silent	SNP	C	C	T	rs148308915	byFrequency	TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:120702685C>T	ENST00000527524.2	+	7	923	c.636C>T	c.(634-636)acC>acT	p.T212T	GRIK4_ENST00000438375.2_Silent_p.T212T	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	212					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)		ACGACAAGACCGCCACCATCA	0.637																																																	0								C		2,4404	4.2+/-10.8	0,2,2201	130.0	112.0	118.0		636	-9.1	0.4	11	dbSNP_134	118	19,8579	14.0+/-48.4	0,19,4280	no	coding-synonymous	GRIK4	NM_014619.2		0,21,6481	TT,TC,CC		0.221,0.0454,0.1615		212/957	120702685	21,12983	2203	4299	6502	SO:0001819	synonymous_variant	2900			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.636C>T	11.37:g.120702685C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9L1	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.T212	ENST00000527524.2	37	c.636	CCDS8433.1	11																																																																																			GRIK4	-	pfam_ANF_lig-bd_rcpt		0.637	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK4	HGNC	protein_coding	OTTHUMT00000109760.4	C	NM_014619		120702685	+1	no_errors	ENST00000527524	ensembl	human	known	70_37	silent	SNP	0.004	T
GRM4	2914	genome.wustl.edu	37	6	34071423	34071423	+	Intron	SNP	G	G	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:34071423G>T	ENST00000538487.2	-	3	963				GRM4_ENST00000374177.3_Intron|GRM4_ENST00000609222.1_Missense_Mutation_p.P19T|GRM4_ENST00000455714.2_5'Flank|GRM4_ENST00000535756.1_Missense_Mutation_p.P19T|GRM4_ENST00000544773.2_Intron|GRM4_ENST00000374181.4_Intron	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity (GO:0000187)|adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|learning (GO:0007612)|neurotransmitter secretion (GO:0007269)|positive regulation of MAPK cascade (GO:0043410)|regulation of neuron apoptotic process (GO:0043523)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic active zone membrane (GO:0048787)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AGGCCGGGAGGAGCCCAGGCA	0.542																																																	0																																										SO:0001627	intron_variant	2914			U92457	CCDS4787.1, CCDS59010.1, CCDS59011.1, CCDS59012.1, CCDS75432.1	6p21.3	2012-08-29			ENSG00000124493	ENSG00000124493		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4596	protein-coding gene	gene with protein product		604100				8738157, 9473604	Standard	NM_000841		Approved	GPRC1D, mGlu4, MGLUR4	uc010jvh.4	Q14833	OTTHUMG00000014538	ENST00000538487.2:c.520-11547C>A	6.37:g.34071423G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVL9|B7Z1T9|B7Z1U6|F5GXM5|Q5SZ84|Q6ZMQ2	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt	p.P19T	ENST00000538487.2	37	c.55	CCDS4787.1	6	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271458	0.23221	.	.	ENSG00000124493	ENST00000535756	D	0.85773	-2.03	4.85	3.98	0.46160	.	.	.	.	.	T	0.66458	0.2791	.	.	.	0.26219	N	0.979185	B	0.26935	0.164	B	0.19946	0.027	T	0.63193	-0.6692	8	0.87932	D	0	.	10.553	0.45101	0.0928:0.0:0.9072:0.0	.	19	B3KVL9	.	T	19	ENSP00000437925:P19T	ENSP00000437925:P19T	P	-	1	0	GRM4	34179401	0.000000	0.05858	0.005000	0.12908	0.007000	0.05969	-0.141000	0.10327	1.035000	0.39972	-0.137000	0.14449	CCT	GRM4	-	NULL		0.542	GRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM4	HGNC	protein_coding	OTTHUMT00000040213.2	G			34071423	-1	no_errors	ENST00000535756	ensembl	human	known	70_37	missense	SNP	0.011	T
GSN	2934	genome.wustl.edu	37	9	124046642	124046642	+	Intron	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:124046642C>G	ENST00000373823.3	+	9	896				GSN_ENST00000412819.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000545652.1_5'Flank|GSN_ENST00000394353.2_Intron|GSN_ENST00000373808.2_Intron|RP11-477J21.6_ENST00000437135.1_RNA|GSN_ENST00000449733.1_Intron|GSN_ENST00000436847.1_Intron|GSN-AS1_ENST00000414544.1_RNA			P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						AGGATTCTCTCAGCTCTTTGC	0.527																																																	0																																										SO:0001627	intron_variant	57000			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373823.3:c.-10+2802C>G	9.37:g.124046642C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	RNA	SNP	-	NULL	ENST00000373823.3	37	NULL	CCDS6829.1	9																																																																																			GSN-AS1	-	-		0.527	GSN-013	KNOWN	basic|appris_principal|CCDS	protein_coding	GSN-AS1	HGNC	protein_coding	OTTHUMT00000254323.3	C	NM_000177		124046642	-1	no_errors	ENST00000414544	ensembl	human	known	70_37	rna	SNP	0.000	G
GSTM4	2948	genome.wustl.edu	37	1	110199374	110199374	+	Nonsense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:110199374C>G	ENST00000369836.4	+	2	386	c.77C>G	c.(76-78)tCa>tGa	p.S26*	GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000326729.5_Nonsense_Mutation_p.S26*|GSTM4_ENST00000369833.1_5'UTR|GSTM4_ENST00000336075.5_Nonsense_Mutation_p.S26*	NM_000850.4	NP_000841.1	Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	26	GST N-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	TACACAGACTCAAGCTACGAG	0.577																																																	0													147.0	152.0	150.0					1																	110199374		2203	4300	6503	SO:0001587	stop_gained	2948			M96234	CCDS806.1, CCDS807.1	1p13.3	2012-06-22	2008-11-26		ENSG00000168765	ENSG00000168765	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4636	protein-coding gene	gene with protein product		138333	"""glutathione S-transferase M4"""			8276420	Standard	NM_000850		Approved		uc001dyf.3	Q03013	OTTHUMG00000011642	ENST00000369836.4:c.77C>G	1.37:g.110199374C>G	ENSP00000358851:p.Ser26*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K765|Q05465|Q32NC1|Q4JNT8|Q6FH87	Nonsense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu	p.S26*	ENST00000369836.4	37	c.77	CCDS807.1	1	.	.	.	.	.	.	.	.	.	.	c	37	6.087906	0.97271	.	.	ENSG00000168765	ENST00000369836;ENST00000336075;ENST00000326729	.	.	.	3.92	3.92	0.45320	.	0.171255	0.34555	U	0.003861	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-9.334	12.9376	0.58325	0.0:1.0:0.0:0.0	.	.	.	.	X	26	.	ENSP00000316471:S26X	S	+	2	0	GSTM4	110000897	0.074000	0.21230	0.430000	0.26722	0.635000	0.38103	3.969000	0.56816	2.031000	0.59945	0.561000	0.74099	TCA	GSTM4	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.577	GSTM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTM4	HGNC	protein_coding	OTTHUMT00000032187.1	C	NM_000850		110199374	+1	no_errors	ENST00000369836	ensembl	human	known	70_37	nonsense	SNP	0.217	G
HAP1	9001	genome.wustl.edu	37	17	39887937	39887937	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:39887937C>T	ENST00000310778.5	-	5	964	c.955G>A	c.(955-957)Gag>Aag	p.E319K	HAP1_ENST00000393939.2_Missense_Mutation_p.E319K|HAP1_ENST00000347901.4_Missense_Mutation_p.E319K|RN7SL399P_ENST00000471648.2_RNA|HAP1_ENST00000341193.5_Missense_Mutation_p.E327K|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	319	Glu-rich.|HAP1 N-terminal.				anterograde axon cargo transport (GO:0008089)|autophagy (GO:0006914)|brain development (GO:0007420)|cell projection organization (GO:0030030)|exocytosis (GO:0006887)|negative regulation of beta-amyloid formation (GO:1902430)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|positive regulation of neurotrophin production (GO:0032901)|positive regulation of nonmotile primary cilium assembly (GO:1902857)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|protein localization (GO:0008104)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|regulation of organelle transport along microtubule (GO:1902513)|retrograde axon cargo transport (GO:0008090)|synaptic transmission (GO:0007268)|vesicle transport along microtubule (GO:0047496)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|inclusion body (GO:0016234)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|synapse (GO:0045202)	brain-derived neurotrophic factor binding (GO:0048403)|ion channel binding (GO:0044325)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CTCAGCTTCTCCTGCAAGGCT	0.612																																																	0													81.0	74.0	76.0					17																	39887937		2203	4300	6503	SO:0001583	missense	9001			AF040723	CCDS11406.1, CCDS42338.1, CCDS42339.1	17q21.2-q21.3	2008-04-23	2008-04-23		ENSG00000173805	ENSG00000173805			4812	protein-coding gene	gene with protein product	"""neuroan 1"""	600947		HAP2		7477378, 9668110	Standard	NM_177977		Approved	HLP, hHLP1, HIP5	uc002hxn.1	P54257	OTTHUMG00000133498	ENST00000310778.5:c.955G>A	17.37:g.39887937C>T	ENSP00000309392:p.Glu319Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQB5|O75358|Q59GK4|Q9H4G3|Q9HA98|Q9NY90	Missense_Mutation	SNP	pfam_HAP1_N	p.E319K	ENST00000310778.5	37	c.955		17	.	.	.	.	.	.	.	.	.	.	C	2.978	-0.211009	0.06140	.	.	ENSG00000173805	ENST00000393939;ENST00000310778;ENST00000347901;ENST00000341193	T;T;T;T	0.18810	2.19;2.19;2.19;2.19	3.94	-0.883	0.10600	.	1.291910	0.05771	N	0.606815	T	0.15565	0.0375	N	0.25380	0.74	0.19775	N	0.999958	B;B;B;B	0.24576	0.106;0.106;0.003;0.004	B;B;B;B	0.29353	0.101;0.101;0.013;0.023	T	0.39502	-0.9611	10	0.23891	T	0.37	-3.557	8.4504	0.32866	0.0:0.5557:0.3084:0.1359	.	319;327;319;319	P54257-3;P54257-4;P54257-2;P54257	.;.;.;HAP1_HUMAN	K	319;319;319;327	ENSP00000377513:E319K;ENSP00000309392:E319K;ENSP00000334002:E319K;ENSP00000343170:E327K	ENSP00000309392:E319K	E	-	1	0	HAP1	37141463	1.000000	0.71417	0.096000	0.21009	0.001000	0.01503	0.541000	0.23207	-0.319000	0.08652	-1.080000	0.02220	GAG	HAP1	-	pfam_HAP1_N		0.612	HAP1-006	KNOWN	basic|appris_principal	protein_coding	HAP1	HGNC	protein_coding	OTTHUMT00000389619.1	C	NM_003949		39887937	-1	no_errors	ENST00000310778	ensembl	human	known	70_37	missense	SNP	0.778	T
MROH2A	339766	genome.wustl.edu	37	2	234702399	234702399	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:234702399G>C	ENST00000389758.3	+	7	917	c.751G>C	c.(751-753)Gag>Cag	p.E251Q	MROH2A_ENST00000480634.2_3'UTR			A6NES4	MRO2A_HUMAN	maestro heat-like repeat family member 2A	281																	GACTGAGGAGGAGTTTGCCCT	0.562																																																	0																																										SO:0001583	missense	339766				CCDS74674.1	2q37.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000185038	ENSG00000185038		"""maestro heat-like repeat containing"""	27936	protein-coding gene	gene with protein product			"""HEAT repeat containing 7B1"""	HEATR7B1		12477932	Standard	NM_001287395		Approved			A6NES4	OTTHUMG00000059037	ENST00000389758.3:c.751G>C	2.37:g.234702399G>C	ENSP00000374408:p.Glu251Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E251Q	ENST00000389758.3	37	c.751		2	.	.	.	.	.	.	.	.	.	.	C	2.583	-0.296964	0.05532	.	.	ENSG00000185038	ENST00000389758	T	0.04156	3.69	5.67	5.67	0.87782	.	0.000000	0.39146	N	0.001443	T	0.01189	0.0039	N	0.00162	-1.95	0.24701	N	0.993258	.	.	.	.	.	.	T	0.41034	-0.9531	8	0.02654	T	1	.	13.1732	0.59611	0.0:0.8399:0.1601:0.0	.	.	.	.	Q	251	ENSP00000374408:E251Q	ENSP00000374408:E251Q	E	+	1	0	HEATR7B1	234367138	0.991000	0.36638	0.980000	0.43619	0.061000	0.15899	2.062000	0.41413	1.554000	0.49487	-0.120000	0.15030	GAG	HEATR7B1	-	superfamily_ARM-type_fold		0.562	MROH2A-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	HEATR7B1	HGNC	protein_coding	OTTHUMT00000130646.6	G	XM_291007		234702399	+1	no_errors	ENST00000389758	ensembl	human	novel	70_37	missense	SNP	0.988	C
MROH2B	133558	genome.wustl.edu	37	5	41007551	41007551	+	Nonsense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:41007551G>C	ENST00000399564.4	-	34	4064	c.3614C>G	c.(3613-3615)tCa>tGa	p.S1205*	MROH2B_ENST00000506092.2_Nonsense_Mutation_p.S760*	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1205																	AGTAGCAGTTGAAAGCCTAAA	0.443																																																	0													60.0	54.0	56.0					5																	41007551		1858	4102	5960	SO:0001587	stop_gained	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3614C>G	5.37:g.41007551G>C	ENSP00000382476:p.Ser1205*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.S1205*	ENST00000399564.4	37	c.3614	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	G	39	7.870440	0.98534	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	.	.	.	6.08	6.08	0.98989	.	0.000000	0.51477	D	0.000083	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	16.1635	0.81734	0.0:0.0:1.0:0.0	.	.	.	.	X	760;910;1205	.	ENSP00000296803:S910X	S	-	2	0	HEATR7B2	41043308	0.999000	0.42202	0.964000	0.40570	0.364000	0.29643	4.489000	0.60309	2.894000	0.99253	0.655000	0.94253	TCA	HEATR7B2	-	superfamily_ARM-type_fold		0.443	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	G	NM_173489		41007551	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	nonsense	SNP	0.980	C
MROH2B	133558	genome.wustl.edu	37	5	41018849	41018849	+	Silent	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:41018849G>A	ENST00000399564.4	-	26	3067	c.2617C>T	c.(2617-2619)Ctg>Ttg	p.L873L	MROH2B_ENST00000506092.2_Silent_p.L428L	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	873																	ATGGTCTTCAGAAGTTTTCCT	0.448																																																	0													122.0	119.0	120.0					5																	41018849		1926	4135	6061	SO:0001819	synonymous_variant	133558				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.2617C>T	5.37:g.41018849G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Silent	SNP	superfamily_ARM-type_fold	p.L873	ENST00000399564.4	37	c.2617	CCDS47202.1	5																																																																																			HEATR7B2	-	superfamily_ARM-type_fold		0.448	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	G	NM_173489		41018849	-1	no_errors	ENST00000399564	ensembl	human	known	70_37	silent	SNP	0.109	A
HIRIP3	8479	genome.wustl.edu	37	16	30006990	30006990	+	5'UTR	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:30006990G>C	ENST00000279392.3	-	0	767				HIRIP3_ENST00000566471.1_5'UTR|INO80E_ENST00000304516.7_5'Flank|HIRIP3_ENST00000564026.1_5'Flank|INO80E_ENST00000567705.1_5'Flank|INO80E_ENST00000563197.1_5'UTR|INO80E_ENST00000567254.1_5'Flank	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3						chromatin assembly or disassembly (GO:0006333)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CAGCGCGTTTGACAGCGGCTC	0.652																																																	0													54.0	49.0	51.0					16																	30006990		692	1591	2283	SO:0001623	5_prime_UTR_variant	8479			AJ223351	CCDS10664.1, CCDS58449.1	16p12.1	2008-02-05	2001-11-29		ENSG00000149929	ENSG00000149929			4917	protein-coding gene	gene with protein product		603365	"""HIRA-interacting protein 3"""			9710638	Standard	NM_003609		Approved		uc002dve.3	Q9BW71	OTTHUMG00000132118	ENST00000279392.3:c.-64C>G	16.37:g.30006990G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	H3BSR3|O75707|O75708	RNA	SNP	-	NULL	ENST00000279392.3	37	NULL	CCDS10664.1	16																																																																																			HIRIP3	-	-		0.652	HIRIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIRIP3	HGNC	protein_coding	OTTHUMT00000255160.2	G	NM_003609		30006990	-1	no_errors	ENST00000566471	ensembl	human	known	70_37	rna	SNP	0.674	C
HMGCL	3155	genome.wustl.edu	37	1	24137116	24137116	+	Intron	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:24137116G>C	ENST00000374490.3	-	6	605				HMGCL_ENST00000374483.4_Intron|HMGCL_ENST00000436439.2_Intron|HMGCL_ENST00000509389.1_Intron	NM_000191.2	NP_000182.2	P35914	HMGCL_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase						acyl-CoA metabolic process (GO:0006637)|cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|ketone body biosynthetic process (GO:0046951)|leucine catabolic process (GO:0006552)|liver development (GO:0001889)|mitochondrion organization (GO:0007005)|protein tetramerization (GO:0051262)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	carboxylic acid binding (GO:0031406)|fatty-acyl-CoA binding (GO:0000062)|hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188)		CTGGGTGAATGAATGAAGTCA	0.592											OREG0013233	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	3155			BC010570	CCDS243.1, CCDS53279.1	1p36.1-p35	2010-04-30	2010-04-30		ENSG00000117305	ENSG00000117305	4.1.3.4		5005	protein-coding gene	gene with protein product	"""hydroxymethylglutaricaciduria"""	613898	"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase"""			8102917, 8978493	Standard	NM_001166059		Approved	HL	uc001bib.3	P35914	OTTHUMG00000002963	ENST00000374490.3:c.561+109C>G	1.37:g.24137116G>C		Somatic	769	WXS	Illumina HiSeq	Phase_IV	B4DUP4|B7UCC6|D3Y5K7|Q6IBC0|Q96FP8	RNA	SNP	-	NULL	ENST00000374490.3	37	NULL	CCDS243.1	1																																																																																			HMGCL	-	-		0.592	HMGCL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCL	HGNC	protein_coding	OTTHUMT00000008253.2	G	NM_000191		24137116	-1	no_errors	ENST00000465332	ensembl	human	known	70_37	rna	SNP	0.000	C
HP09025	100652929	genome.wustl.edu	37	17	77681225	77681225	+	lincRNA	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:77681225G>C	ENST00000397549.2	+	0	151				MIR4739_ENST00000577633.1_RNA																							TGAGATGAAAGAGGAGTTGCT	0.667																																																	0																																												100652929																															17.37:g.77681225G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000397549.2	37	NULL		17																																																																																			CTD-2116F7.1	-	-		0.667	CTD-2116F7.1-001	KNOWN	basic	lincRNA	HP09025	Clone_based_vega_gene	lincRNA	OTTHUMT00000437037.1	G			77681225	+1	no_errors	ENST00000397549	ensembl	human	known	70_37	rna	SNP	0.023	C
RP5-1052I5.2	0	genome.wustl.edu	37	1	87599320	87599320	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:87599320C>G	ENST00000370548.2	+	7	863	c.790C>G	c.(790-792)Cat>Gat	p.H264D	RP5-1052I5.1_ENST00000484933.2_lincRNA|HS2ST1_ENST00000356813.4_Missense_Mutation_p.H264D																							TACACCATCTCATCGGCATGG	0.473																																																	0													48.0	43.0	44.0					1																	87599320		876	1991	2867	SO:0001583	missense	9653																														ENST00000370548.2:c.790C>G	1.37:g.87599320C>G	ENSP00000359579:p.His264Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Sulfotransferase	p.H264D	ENST00000370548.2	37	c.790		1	.	.	.	.	.	.	.	.	.	.	C	11.17	1.559138	0.27827	.	.	ENSG00000153936	ENST00000370548;ENST00000356813	.	.	.	3.28	0.221	0.15283	.	.	.	.	.	T	0.06735	0.0172	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.11329	0.006	T	0.35847	-0.9772	7	0.30854	T	0.27	.	1.9301	0.03325	0.2077:0.4709:0.2019:0.1196	.	264	Q7LGA3-2	.	D	264	.	ENSP00000349268:H264D	H	+	1	0	HS2ST1	87371908	0.000000	0.05858	0.001000	0.08648	0.473000	0.32948	-0.962000	0.03841	0.058000	0.16222	0.467000	0.42956	CAT	HS2ST1	-	NULL		0.473	RP5-1052I5.2-001	PUTATIVE	basic|appris_principal|readthrough_transcript	protein_coding	HS2ST1	HGNC	protein_coding	OTTHUMT00000457517.1	C			87599320	+1	no_errors	ENST00000356813	ensembl	human	known	70_37	missense	SNP	0.001	G
HSD17B4	3295	genome.wustl.edu	37	5	118844836	118844836	+	Splice_Site	SNP	T	T	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:118844836T>C	ENST00000256216.6	+	16	1467	c.1334T>C	c.(1333-1335)gTc>gCc	p.V445A	HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000509514.1_Splice_Site_p.V183A|HSD17B4_ENST00000513628.1_Splice_Site_p.V308A|HSD17B4_ENST00000510025.1_Splice_Site_p.V421A|HSD17B4_ENST00000414835.2_Splice_Site_p.V305A|HSD17B4_ENST00000515320.1_Splice_Site_p.V427A|HSD17B4_ENST00000504811.1_Splice_Site_p.V470A	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	445	Enoyl-CoA hydratase 2.				alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		TACTTTTCAGTCTATTCTTAT	0.358																																					Colon(35;490 801 34689 41394 43344)												0													91.0	94.0	93.0					5																	118844836		2202	4300	6502	SO:0001630	splice_region_variant	3295				CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1334-1T>C	5.37:g.118844836T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNV1|B4DVS5|E9PB82|F5HE57	Missense_Mutation	SNP	pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.V445A	ENST00000256216.6	37	c.1334	CCDS4126.1	5	.	.	.	.	.	.	.	.	.	.	T	17.70	3.453605	0.63290	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	D;D;D;D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89;-1.89;-1.89;-1.89	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	D	0.91005	0.7171	M	0.85630	2.765	0.80722	D	1	D;P;B;P;P	0.56521	0.976;0.476;0.43;0.681;0.476	P;P;P;P;P	0.55011	0.766;0.653;0.653;0.558;0.653	D	0.91889	0.5522	9	.	.	.	.	15.3256	0.74160	0.0:0.0:0.0:1.0	.	470;427;421;183;445	F5HE57;E9PB82;E7EWE5;E7EPL9;P51659	.;.;.;.;DHB4_HUMAN	A	445;427;421;470;305;308;183	ENSP00000256216:V445A;ENSP00000424613:V427A;ENSP00000424940:V421A;ENSP00000420914:V470A;ENSP00000411960:V305A;ENSP00000425993:V308A;ENSP00000426272:V183A	.	V	+	2	0	HSD17B4	118872735	1.000000	0.71417	0.998000	0.56505	0.655000	0.38815	4.022000	0.57203	2.086000	0.62901	0.459000	0.35465	GTC	HSD17B4	-	NULL		0.358	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B4	HGNC	protein_coding	OTTHUMT00000250863.3	T	NM_000414	Missense_Mutation	118844836	+1	no_errors	ENST00000256216	ensembl	human	known	70_37	missense	SNP	1.000	C
HSP90AA4P	3323	genome.wustl.edu	37	4	190395739	190395739	+	RNA	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:190395739G>C	ENST00000378770.1	+	0	731							Q58FG1	HS904_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 4, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)										GAAGGAATTTGAGGGGAAGAC	0.428																																																	0																																												3323					4q35.2	2011-04-15	2011-04-15	2006-02-24	ENSG00000205100	ENSG00000205100			5255	pseudogene	pseudogene			"""heat shock 90kD protein 1, alpha-like 2"", ""heat shock 90kDa protein 1, alpha-like 2"""	HSPCAL2		1740332, 16269234	Standard	NG_003014		Approved			Q58FG1	OTTHUMG00000160204		4.37:g.190395739G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000378770.1	37	NULL		4																																																																																			HSP90AA4P	-	-		0.428	HSP90AA4P-002	KNOWN	basic	processed_transcript	HSP90AA4P	HGNC	pseudogene	OTTHUMT00000359634.1	G	NG_003014		190395739	+1	no_errors	ENST00000378770	ensembl	human	known	70_37	rna	SNP	1.000	C
HSPA4	3308	genome.wustl.edu	37	5	132428464	132428464	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:132428464G>C	ENST00000304858.2	+	13	1922	c.1633G>C	c.(1633-1635)Gag>Cag	p.E545Q		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	545					chaperone-mediated protein complex assembly (GO:0051131)|protein import into mitochondrial outer membrane (GO:0045040)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAATAAGGCAGAGTCTGAAGA	0.403																																					Colon(114;1299 1588 6063 12302 48757)												0													120.0	110.0	114.0					5																	132428464		2203	4300	6503	SO:0001583	missense	3308			AB023420	CCDS4166.1	5q31.1	2011-09-07	2002-08-29		ENSG00000170606	ENSG00000170606		"""Heat shock proteins / HSP70"""	5237	protein-coding gene	gene with protein product	"""hsp70 RY"""	601113	"""heat shock 70kD protein 4"""			8335910	Standard	NM_002154		Approved	HS24/P52, HSPH2	uc003kyj.3	P34932	OTTHUMG00000129012	ENST00000304858.2:c.1633G>C	5.37:g.132428464G>C	ENSP00000302961:p.Glu545Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O95756|Q2TAL4|Q9BUK9	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.E545Q	ENST00000304858.2	37	c.1633	CCDS4166.1	5	.	.	.	.	.	.	.	.	.	.	G	14.24	2.475299	0.43942	.	.	ENSG00000170606	ENST00000304858	T	0.01015	5.44	5.22	5.22	0.72569	.	0.425349	0.28047	N	0.016814	T	0.01156	0.0038	N	0.22421	0.69	0.54753	D	0.999981	B	0.26708	0.157	B	0.35931	0.214	T	0.72261	-0.4345	10	0.27082	T	0.32	-7.2095	12.4982	0.55940	0.0765:0.0:0.9235:0.0	.	545	P34932	HSP74_HUMAN	Q	545	ENSP00000302961:E545Q	ENSP00000302961:E545Q	E	+	1	0	HSPA4	132456363	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	6.834000	0.75339	2.597000	0.87782	0.655000	0.94253	GAG	HSPA4	-	pfam_Hsp_70_fam		0.403	HSPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA4	HGNC	protein_coding	OTTHUMT00000251011.1	G	NM_002154, NM_198431		132428464	+1	no_errors	ENST00000304858	ensembl	human	known	70_37	missense	SNP	1.000	C
IER5L	389792	genome.wustl.edu	37	9	131939150	131939150	+	Silent	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:131939150G>A	ENST00000372491.2	-	1	1390	c.1182C>T	c.(1180-1182)ctC>ctT	p.L394L	RP11-247A12.2_ENST00000372490.3_RNA|RP11-247A12.8_ENST00000599172.2_RNA	NM_203434.2	NP_982258.2	Q5T953	IER5L_HUMAN	immediate early response 5-like	394													Ovarian(14;0.0448)|Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		TCCAGGCGCCGAGGCTGGCGA	0.731																																																	0													5.0	7.0	6.0					9																	131939150		1669	3794	5463	SO:0001819	synonymous_variant	389792			BC013070	CCDS43888.1	9q34.11	2013-09-20			ENSG00000188483	ENSG00000188483			23679	protein-coding gene	gene with protein product							Standard	NM_203434		Approved	bA247A12.2	uc010myt.1	Q5T953	OTTHUMG00000020773	ENST00000372491.2:c.1182C>T	9.37:g.131939150G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P3E2	Silent	SNP	pfam_IER	p.L394	ENST00000372491.2	37	c.1182	CCDS43888.1	9																																																																																			IER5L	-	pfam_IER		0.731	IER5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IER5L	HGNC	protein_coding	OTTHUMT00000054556.2	G			131939150	-1	no_errors	ENST00000372491	ensembl	human	known	70_37	silent	SNP	1.000	A
IFNGR1	3459	genome.wustl.edu	37	6	137525576	137525576	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:137525576G>A	ENST00000367739.4	-	4	560	c.439C>T	c.(439-441)Cac>Tac	p.H147Y	IFNGR1_ENST00000543628.1_Missense_Mutation_p.H119Y|IFNGR1_ENST00000367735.2_Missense_Mutation_p.H137Y|IFNGR1_ENST00000478333.1_5'Flank	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	147					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	ACTGAAGGGTGAAATATGTCA	0.403																																																	0													181.0	155.0	164.0					6																	137525576		2203	4300	6503	SO:0001583	missense	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.439C>T	6.37:g.137525576G>A	ENSP00000356713:p.His147Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu	p.H147Y	ENST00000367739.4	37	c.439	CCDS5185.1	6	.	.	.	.	.	.	.	.	.	.	G	13.90	2.375772	0.42105	.	.	ENSG00000027697	ENST00000367739;ENST00000418947;ENST00000543628;ENST00000458076;ENST00000367735;ENST00000414770	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	5.51	2.65	0.31530	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.388255	0.21659	N	0.071056	T	0.33933	0.0880	L	0.39147	1.195	0.20307	N	0.999914	D;D;D	0.69078	0.995;0.997;0.996	P;P;P	0.61533	0.756;0.89;0.78	T	0.08066	-1.0740	10	0.36615	T	0.2	-6.4488	6.9606	0.24595	0.0906:0.3432:0.5661:0.0	.	137;119;147	B4DFT7;F5H5M7;P15260	.;.;INGR1_HUMAN	Y	147;147;119;113;137;137	ENSP00000356713:H147Y;ENSP00000443282:H119Y;ENSP00000389249:H113Y;ENSP00000356709:H137Y;ENSP00000394230:H137Y	ENSP00000356709:H137Y	H	-	1	0	IFNGR1	137567269	0.925000	0.31364	0.162000	0.22713	0.005000	0.04900	0.510000	0.22723	0.633000	0.30452	-0.176000	0.13171	CAC	IFNGR1	-	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3		0.403	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR1	HGNC	protein_coding	OTTHUMT00000042401.1	G			137525576	-1	no_errors	ENST00000367739	ensembl	human	known	70_37	missense	SNP	0.256	A
IFT172	26160	genome.wustl.edu	37	2	27680517	27680517	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:27680517C>G	ENST00000260570.3	-	29	3320	c.3217G>C	c.(3217-3219)Gag>Cag	p.E1073Q		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1073					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CTGTAGGCCTCTTCCCAAAGC	0.542																																																	0													136.0	109.0	118.0					2																	27680517		2203	4300	6503	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3217G>C	2.37:g.27680517C>G	ENSP00000260570:p.Glu1073Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.E1073Q	ENST00000260570.3	37	c.3217	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.193216	0.94960	.	.	ENSG00000138002	ENST00000260570	T	0.23754	1.89	6.08	6.08	0.98989	.	0.184560	0.56097	D	0.000023	T	0.50394	0.1613	M	0.66939	2.045	0.80722	D	1	D	0.63880	0.993	D	0.63703	0.917	T	0.42766	-0.9432	10	0.72032	D	0.01	-17.5685	19.2286	0.93827	0.0:1.0:0.0:0.0	.	1073	Q9UG01	IF172_HUMAN	Q	1073	ENSP00000260570:E1073Q	ENSP00000260570:E1073Q	E	-	1	0	IFT172	27534021	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.357000	0.79456	2.890000	0.99128	0.655000	0.94253	GAG	IFT172	-	NULL		0.542	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	C	NM_015662		27680517	-1	no_errors	ENST00000260570	ensembl	human	known	70_37	missense	SNP	1.000	G
IGHMBP2	3508	genome.wustl.edu	37	11	68704029	68704029	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:68704029G>A	ENST00000255078.3	+	13	2192	c.2081G>A	c.(2080-2082)cGg>cAg	p.R694Q		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	694	SS DNA-binding. {ECO:0000250}.		R -> W (in dbSNP:rs2236654).		ATP catabolic process (GO:0006200)|cell death (GO:0008219)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)	axon (GO:0030424)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|ATP-dependent 5'-3' RNA helicase activity (GO:0032575)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|ribosome binding (GO:0043022)|RNA binding (GO:0003723)|RNA-dependent ATPase activity (GO:0008186)|single-stranded DNA binding (GO:0003697)|transcription factor binding (GO:0008134)|tRNA binding (GO:0000049)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			AGACAGGGCCGGAAGAAGCCG	0.672																																																	0													22.0	27.0	26.0					11																	68704029		2200	4292	6492	SO:0001583	missense	3508			L14754	CCDS8187.1	11q13.3	2014-09-17			ENSG00000132740	ENSG00000132740		"""Zinc fingers, AN1-type domain containing"""	5542	protein-coding gene	gene with protein product	"""cardiac transcription factor 1"", ""zinc finger, AN1-type domain 7"""	600502				8349627	Standard	NM_002180		Approved	ZFAND7, SMUBP2, CATF1, SMARD1, HCSA, HMN6	uc001ook.1	P38935	OTTHUMG00000167894	ENST00000255078.3:c.2081G>A	11.37:g.68704029G>A	ENSP00000255078:p.Arg694Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJD2|Q00443|Q14177	Missense_Mutation	SNP	pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put	p.R694Q	ENST00000255078.3	37	c.2081	CCDS8187.1	11	.	.	.	.	.	.	.	.	.	.	G	9.984	1.229021	0.22542	.	.	ENSG00000132740	ENST00000255078	D	0.90004	-2.6	3.53	-5.39	0.02664	.	6.158650	0.00520	N	0.000184	D	0.83552	0.5279	L	0.50333	1.59	0.22581	N	0.998966	B	0.14438	0.01	B	0.06405	0.002	T	0.67991	-0.5527	10	0.15066	T	0.55	-34.8022	9.1403	0.36899	0.657:0.1191:0.2239:0.0	.	694	P38935	SMBP2_HUMAN	Q	694	ENSP00000255078:R694Q	ENSP00000255078:R694Q	R	+	2	0	IGHMBP2	68460605	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.336000	0.07863	-1.489000	0.01844	-1.051000	0.02340	CGG	IGHMBP2	-	NULL		0.672	IGHMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGHMBP2	HGNC	protein_coding	OTTHUMT00000396862.1	G	NM_002180		68704029	+1	no_errors	ENST00000255078	ensembl	human	known	70_37	missense	SNP	0.037	A
IGSF9	57549	genome.wustl.edu	37	1	159898128	159898128	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:159898128G>A	ENST00000368094.1	-	19	3247	c.3050C>T	c.(3049-3051)cCt>cTt	p.P1017L	IGSF9_ENST00000493195.1_5'UTR|IGSF9_ENST00000361509.3_Missense_Mutation_p.P1001L|TAGLN2_ENST00000478033.1_5'Flank|TAGLN2_ENST00000368097.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1017					dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GCTGCCTCGAGGGGCAGCAGG	0.697																																																	0													8.0	10.0	9.0					1																	159898128		2162	4225	6387	SO:0001583	missense	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.3050C>T	1.37:g.159898128G>A	ENSP00000357073:p.Pro1017Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.P1017L	ENST00000368094.1	37	c.3050	CCDS44254.1	1	.	.	.	.	.	.	.	.	.	.	G	9.812	1.183388	0.21870	.	.	ENSG00000085552	ENST00000361509;ENST00000368094;ENST00000198587	T;T	0.64803	-0.12;-0.03	4.04	4.04	0.47022	.	0.000000	0.34046	U	0.004314	T	0.28067	0.0692	N	0.24115	0.695	0.40874	D	0.983934	P;B	0.47034	0.889;0.107	B;B	0.40165	0.321;0.014	T	0.10154	-1.0642	9	.	.	.	-10.4001	7.5358	0.27710	0.1166:0.0:0.8834:0.0	.	1017;555	Q9P2J2;C9JI81	TUTLA_HUMAN;.	L	1001;1017;555	ENSP00000355049:P1001L;ENSP00000357073:P1017L	.	P	-	2	0	IGSF9	158164752	0.255000	0.24002	0.966000	0.40874	0.292000	0.27327	1.291000	0.33330	2.068000	0.61886	0.655000	0.94253	CCT	IGSF9	-	NULL		0.697	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	G	NM_020789		159898128	-1	no_errors	ENST00000368094	ensembl	human	known	70_37	missense	SNP	0.895	A
IGSF9B	22997	genome.wustl.edu	37	11	133801384	133801384	+	Silent	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:133801384G>A	ENST00000321016.8	-	10	1562	c.1332C>T	c.(1330-1332)gcC>gcT	p.A444A	IGSF9B_ENST00000533871.2_Silent_p.A444A			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	444	Ig-like 5.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGTCCCCTGCGGCAGCACAGG	0.662																																																	0													32.0	38.0	36.0					11																	133801384		1877	4101	5978	SO:0001819	synonymous_variant	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.1332C>T	11.37:g.133801384G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	G5EA26	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A444	ENST00000321016.8	37	c.1332		11																																																																																			IGSF9B	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.662	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		G	XM_290502		133801384	-1	no_errors	ENST00000321016	ensembl	human	known	70_37	silent	SNP	0.022	A
IFNL2	282616	genome.wustl.edu	37	19	39760613	39760613	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:39760613G>T	ENST00000331982.5	+	6	618	c.563G>T	c.(562-564)cGa>cTa	p.R188L		NM_172138.1	NP_742150.1	Q8IZJ0	IFNL2_HUMAN	interferon, lambda 2	188					defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|mucosal immune response (GO:0002385)|positive regulation of immune response (GO:0050778)	extracellular space (GO:0005615)											CTCCTCACGCGAGACCTGAAT	0.542																																																	0													46.0	45.0	45.0					19																	39760613		2203	4300	6503	SO:0001583	missense	282616			AY129148	CCDS42567.1	19q13.13	2014-05-22	2012-11-26	2012-11-26	ENSG00000183709	ENSG00000183709		"""Interferons"""	18364	protein-coding gene	gene with protein product		607401	"""interleukin 28A"", ""interleukin 28A (interferon, lambda 2)"""	IL28A			Standard	NM_172138		Approved	IL-28A	uc002oku.1	Q8IZJ0		ENST00000331982.5:c.563G>T	19.37:g.39760613G>T	ENSP00000333639:p.Arg188Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q45KQ8|Q6VN55|Q8IWL7	Missense_Mutation	SNP	NULL	p.R188L	ENST00000331982.5	37	c.563	CCDS42567.1	19	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264962	0.23136	.	.	ENSG00000183709	ENST00000331982	T	0.33865	1.39	3.43	-3.38	0.04883	.	1.521050	0.03997	N	0.295834	T	0.31263	0.0791	M	0.69185	2.1	0.09310	N	1	B	0.18166	0.026	B	0.14578	0.011	T	0.36672	-0.9738	10	0.56958	D	0.05	-2.5153	0.5098	0.00593	0.3447:0.1762:0.2997:0.1794	.	188	Q8IZJ0	IL28A_HUMAN	L	188	ENSP00000333639:R188L	ENSP00000333639:R188L	R	+	2	0	IL28A	44452453	0.001000	0.12720	0.023000	0.16930	0.003000	0.03518	-0.328000	0.07945	-0.274000	0.09232	-0.232000	0.12228	CGA	IL28A	-	NULL		0.542	IFNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL28A	HGNC	protein_coding	OTTHUMT00000463833.1	G	NM_172138		39760613	+1	no_errors	ENST00000331982	ensembl	human	known	70_37	missense	SNP	0.001	T
KCNA4	3739	genome.wustl.edu	37	11	30032518	30032518	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:30032518C>G	ENST00000328224.6	-	2	2941	c.1708G>C	c.(1708-1710)Gag>Cag	p.E570Q	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	570					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TTTTCAGTCTCTCTGTGGTAG	0.463																																																	0													73.0	78.0	76.0					11																	30032518		2045	4201	6246	SO:0001583	missense	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.1708G>C	11.37:g.30032518C>G	ENSP00000328511:p.Glu570Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.E570Q	ENST00000328224.6	37	c.1708	CCDS41629.1	11	.	.	.	.	.	.	.	.	.	.	C	19.24	3.789459	0.70337	.	.	ENSG00000182255	ENST00000328224	D	0.97161	-4.27	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.98642	0.9545	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	D	0.99418	1.0932	10	0.87932	D	0	.	19.8215	0.96599	0.0:1.0:0.0:0.0	.	570	P22459	KCNA4_HUMAN	Q	570	ENSP00000328511:E570Q	ENSP00000328511:E570Q	E	-	1	0	KCNA4	29989094	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.679000	0.91253	0.650000	0.86243	GAG	KCNA4	-	NULL		0.463	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	C	NM_002233		30032518	-1	no_errors	ENST00000328224	ensembl	human	known	70_37	missense	SNP	1.000	G
KDM4B	23030	genome.wustl.edu	37	19	5047638	5047638	+	Missense_Mutation	SNP	T	T	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:5047638T>A	ENST00000159111.4	+	6	802	c.584T>A	c.(583-585)cTg>cAg	p.L195Q	KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Missense_Mutation_p.L195Q|KDM4B_ENST00000536461.1_Missense_Mutation_p.L195Q	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	195	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GACATGGACCTGTACAGCATC	0.637																																																	0													226.0	159.0	182.0					19																	5047638		2203	4300	6503	SO:0001583	missense	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.584T>A	19.37:g.5047638T>A	ENSP00000159111:p.Leu195Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.L195Q	ENST00000159111.4	37	c.584	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	T	26.2	4.714068	0.89112	.	.	ENSG00000127663	ENST00000159111;ENST00000381759;ENST00000536461	T;T;T	0.75477	-0.94;-0.94;-0.94	4.32	4.32	0.51571	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.64402	D	0.000002	D	0.90834	0.7121	H	0.97983	4.12	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	0.93841	0.7136	10	0.87932	D	0	-31.1132	13.6209	0.62136	0.0:0.0:0.0:1.0	.	195;195;195	F5GX28;O94953-2;O94953	.;.;KDM4B_HUMAN	Q	195	ENSP00000159111:L195Q;ENSP00000371178:L195Q;ENSP00000440495:L195Q	ENSP00000159111:L195Q	L	+	2	0	KDM4B	4998638	1.000000	0.71417	0.981000	0.43875	0.990000	0.78478	7.779000	0.85648	1.803000	0.52742	0.533000	0.62120	CTG	KDM4B	-	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom		0.637	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	T	NM_015015		5047638	+1	no_errors	ENST00000159111	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1210	57481	genome.wustl.edu	37	X	118242373	118242373	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:118242373C>G	ENST00000402510.2	-	6	838	c.839G>C	c.(838-840)gGa>gCa	p.G280A		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	280										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGACATGGCTCCAGACACAAC	0.463																																																	0													115.0	108.0	110.0					X																	118242373		1969	4158	6127	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.839G>C	X.37:g.118242373C>G	ENSP00000384670:p.Gly280Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.G280A	ENST00000402510.2	37	c.839	CCDS48156.1	X	.	.	.	.	.	.	.	.	.	.	C	9.186	1.024740	0.19433	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.10477	2.87	3.24	0.00698	0.14069	.	.	.	.	.	T	0.05456	0.0144	N	0.08118	0	0.09310	N	1	P	0.50943	0.94	P	0.46275	0.51	T	0.21109	-1.0255	9	0.44086	T	0.13	.	1.0954	0.01672	0.22:0.4138:0.2123:0.154	.	280	Q9ULL0	K1210_HUMAN	A	280;116	ENSP00000384670:G280A	ENSP00000396164:G116A	G	-	2	0	RP13-347D8.5;RP13-347D8.6	118126401	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.542000	0.06091	-0.119000	0.11830	-0.380000	0.06706	GGA	KIAA1210	-	NULL		0.463	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	C	NM_020721		118242373	-1	no_errors	ENST00000402510	ensembl	human	known	70_37	missense	SNP	0.001	G
KIF13B	23303	genome.wustl.edu	37	8	28988170	28988170	+	Silent	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:28988170C>T	ENST00000524189.1	-	24	2993	c.2955G>A	c.(2953-2955)gtG>gtA	p.V985V	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	985					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ATTTCCTGGTCACTTCACTCC	0.393																																																	0													116.0	107.0	109.0					8																	28988170		1827	4089	5916	SO:0001819	synonymous_variant	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2955G>A	8.37:g.28988170C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V985	ENST00000524189.1	37	c.2955	CCDS55217.1	8																																																																																			KIF13B	-	NULL		0.393	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	C			28988170	-1	no_errors	ENST00000524189	ensembl	human	known	70_37	silent	SNP	0.989	T
KIF4B	285643	genome.wustl.edu	37	5	154397090	154397090	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:154397090C>G	ENST00000435029.4	+	1	3831	c.3671C>G	c.(3670-3672)tCt>tGt	p.S1224C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1224	Globular. {ECO:0000250}.|Interaction with PRC1. {ECO:0000250}.				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)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGCTTCTTCTCTGGCTGCTCC	0.512																																																	0													36.0	37.0	37.0					5																	154397090		2203	4300	6503	SO:0001583	missense	285643			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.3671C>G	5.37:g.154397090C>G	ENSP00000387875:p.Ser1224Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1224C	ENST00000435029.4	37	c.3671	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064687	0.55432	.	.	ENSG00000226650	ENST00000435029	T	0.52526	0.66	1.77	1.77	0.24775	.	.	.	.	.	T	0.60418	0.2267	L	0.59436	1.845	0.54753	D	0.999982	D	0.89917	1.0	D	0.91635	0.999	T	0.62905	-0.6755	9	0.87932	D	0	.	9.5105	0.39074	0.0:1.0:0.0:0.0	.	1224	Q2VIQ3	KIF4B_HUMAN	C	1224	ENSP00000387875:S1224C	ENSP00000387875:S1224C	S	+	2	0	KIF4B	154377283	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	3.623000	0.54224	1.290000	0.44636	0.563000	0.77884	TCT	KIF4B	-	NULL		0.512	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	HGNC	protein_coding	OTTHUMT00000377478.1	C			154397090	+1	no_errors	ENST00000435029	ensembl	human	known	70_37	missense	SNP	1.000	G
KLHL18	23276	genome.wustl.edu	37	3	47384226	47384226	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:47384226C>T	ENST00000232766.5	+	9	1264	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	KLHL18_ENST00000455924.2_Missense_Mutation_p.S303L	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	415										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		GTGGTGACCTCGATGAGCTCG	0.507																																																	0													173.0	146.0	155.0					3																	47384226		2203	4300	6503	SO:0001583	missense	23276			AB018338	CCDS33749.1	3p21	2013-01-30	2013-01-30		ENSG00000114648	ENSG00000114648		"""Kelch-like"", ""BTB/POZ domain containing"""	29120	protein-coding gene	gene with protein product			"""kelch-like 18 (Drosophila)"""			9872452	Standard	NM_025010		Approved	KIAA0795, FLJ13703	uc003crd.3	O94889	OTTHUMG00000156522	ENST00000232766.5:c.1244C>T	3.37:g.47384226C>T	ENSP00000232766:p.Ser415Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K612|Q7Z3E8|Q8N125	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S415L	ENST00000232766.5	37	c.1244	CCDS33749.1	3	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758661	0.69763	.	.	ENSG00000114648	ENST00000232766;ENST00000455924	T;T	0.81415	-1.49;-1.49	5.5	5.5	0.81552	Galactose oxidase, beta-propeller (1);	0.189210	0.46758	D	0.000280	D	0.90943	0.7153	H	0.97265	3.97	0.25196	N	0.990099	B	0.28713	0.22	B	0.41088	0.347	D	0.84274	0.0490	10	0.51188	T	0.08	.	18.7421	0.91777	0.0:1.0:0.0:0.0	.	415	O94889	KLH18_HUMAN	L	415;303	ENSP00000232766:S415L;ENSP00000405585:S303L	ENSP00000232766:S415L	S	+	2	0	KLHL18	47359230	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.972000	0.70448	2.740000	0.93945	0.650000	0.86243	TCG	KLHL18	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.507	KLHL18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL18	HGNC	protein_coding	OTTHUMT00000344493.1	C	NM_025010		47384226	+1	no_errors	ENST00000232766	ensembl	human	known	70_37	missense	SNP	0.999	T
KRT17	3872	genome.wustl.edu	37	17	39782818	39782818	+	5'Flank	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:39782818G>A	ENST00000311208.8	-	0	0				KRT42P_ENST00000438131.1_RNA|JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17						epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CCTGCTCACAGAAGAAGACCA	0.617																																					Pancreas(92;1242 2086 39193 50508)												0																																										SO:0001631	upstream_gene_variant	284116			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505		17.37:g.39782818G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	RNA	SNP	-	NULL	ENST00000311208.8	37	NULL	CCDS11402.1	17																																																																																			KRT42P	-	-		0.617	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT42P	HGNC	protein_coding	OTTHUMT00000257460.1	G	NM_000422		39782818	-1	no_errors	ENST00000398469	ensembl	human	known	70_37	rna	SNP	0.011	A
KRT7	3855	genome.wustl.edu	37	12	52631389	52631389	+	Intron	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:52631389G>C	ENST00000331817.5	+	3	780					NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7						viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)	Primaquine(DB01087)	AGGGTTGTCTGAAAACATGGG	0.542																																																	0													102.0	100.0	101.0					12																	52631389		2203	4300	6503	SO:0001627	intron_variant	3855				CCDS8822.1	12q13.13	2013-01-16			ENSG00000135480	ENSG00000135480		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6445	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 7"", ""cytokeratin 7"", ""sarcolectin"", ""keratin, 55K type II cytoskeletal"""	148059				1713141, 16831889	Standard	XR_245927		Approved	K7, CK7, K2C7, SCL	uc001saa.1	P08729	OTTHUMG00000169580	ENST00000331817.5:c.597+36G>C	12.37:g.52631389G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q92676|Q9BUD8|Q9Y3R7	RNA	SNP	-	NULL	ENST00000331817.5	37	NULL	CCDS8822.1	12																																																																																			KRT7	-	-		0.542	KRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT7	HGNC	protein_coding	OTTHUMT00000404897.1	G	NM_005556		52631389	+1	no_errors	ENST00000547613	ensembl	human	known	70_37	rna	SNP	0.000	C
LCAT	3931	genome.wustl.edu	37	16	67974031	67974031	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:67974031C>G	ENST00000264005.5	-	6	1128	c.1099G>C	c.(1099-1101)Gat>Cat	p.D367H		NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	367					cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		TCATCACCATCCTCATAGAGC	0.647																																																	0													112.0	117.0	115.0					16																	67974031		2198	4300	6498	SO:0001583	missense	3931				CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.1099G>C	16.37:g.67974031C>G	ENSP00000264005:p.Asp367His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XQ3	Missense_Mutation	SNP	pfam_LACT/PDAT_acylTrfase	p.D367H	ENST00000264005.5	37	c.1099	CCDS10854.1	16	.	.	.	.	.	.	.	.	.	.	C	18.96	3.732925	0.69189	.	.	ENSG00000213398	ENST00000264005	D	0.96265	-3.96	5.73	5.73	0.89815	.	0.179052	0.38326	U	0.001734	D	0.98735	0.9575	H	0.95539	3.685	0.58432	D	0.999995	D	0.89917	1.0	D	0.81914	0.995	D	0.99593	1.0976	10	0.87932	D	0	-1.4232	17.4094	0.87481	0.0:1.0:0.0:0.0	.	367	P04180	LCAT_HUMAN	H	367	ENSP00000264005:D367H	ENSP00000264005:D367H	D	-	1	0	LCAT	66531532	1.000000	0.71417	0.979000	0.43373	0.230000	0.25150	5.981000	0.70524	2.699000	0.92147	0.637000	0.83480	GAT	LCAT	-	pfam_LACT/PDAT_acylTrfase		0.647	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCAT	HGNC	protein_coding	OTTHUMT00000268885.3	C			67974031	-1	no_errors	ENST00000264005	ensembl	human	known	70_37	missense	SNP	0.997	G
FAM230C	26080	genome.wustl.edu	37	22	21663672	21663672	+	lincRNA	SNP	T	T	C	rs368981756		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr22:21663672T>C	ENST00000436681.1	-	0	498																											GGCGTCCTCGTTGGCGATGCC	0.701																																																	0																																												26080																															22.37:g.21663672T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000436681.1	37	NULL		22																																																																																			LINC00281	-	-		0.701	KB-1183D5.13-003	KNOWN	basic	lincRNA	LINC00281	HGNC	lincRNA	OTTHUMT00000320109.1	T			21663672	-1	no_errors	ENST00000436681	ensembl	human	known	70_37	rna	SNP	0.827	C
LINC00623	728855	genome.wustl.edu	37	1	149581234	149581235	+	RNA	INS	-	-	T	rs368537587		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:149581234_149581235insT	ENST00000598569.1	+	0	711_712																											GAGACCTCACATTTTTTTCACC	0.262																																																	0																																												728855																															1.37:g.149581241_149581241dupT		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000598569.1	37	NULL		1																																																																																			RP11-353N4.6	-	-		0.262	RP11-353N4.6-002	KNOWN	basic	processed_transcript	LINC00623	Clone_based_vega_gene	pseudogene	OTTHUMT00000462966.1	-			149581235	+1	no_errors	ENST00000598569	ensembl	human	known	70_37	rna	INS	0.000:0.005	T
LINC00917	732275	genome.wustl.edu	37	16	86369441	86369441	+	lincRNA	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:86369441C>T	ENST00000594203.1	-	0	1537									long intergenic non-protein coding RNA 917																		gctggcttctcccgcatagag	0.532																																																	0																																												732275					16q24.1	2013-05-24			ENSG00000168367	ENSG00000168367		"""Long non-coding RNAs"""	48607	non-coding RNA	RNA, long non-coding							Standard	NR_024406		Approved				OTTHUMG00000183867		16.37:g.86369441C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000594203.1	37	NULL		16	.	.	.	.	.	.	.	.	.	.	C	8.809	0.934871	0.18206	.	.	ENSG00000168367	ENST00000304488	.	.	.	1.24	1.24	0.21308	.	.	.	.	.	T	0.55242	0.1908	.	.	.	.	.	.	.	.	.	.	.	.	T	0.66264	-0.5967	4	0.87932	D	0	.	8.3753	0.32440	0.0:1.0:0.0:0.0	.	.	.	.	E	98	.	ENSP00000304875:G98E	G	-	2	0	AC092327.1	84926942	0.071000	0.21146	0.011000	0.14972	0.003000	0.03518	1.233000	0.32648	1.018000	0.39521	0.455000	0.32223	GGA	RP11-158I3.2	-	-		0.532	LINC00917-002	KNOWN	basic	lincRNA	LOC732275	Clone_based_vega_gene	lincRNA	OTTHUMT00000467202.1	C			86369441	-1	no_errors	ENST00000304488	ensembl	human	known	70_37	rna	SNP	0.051	T
LRP5	4041	genome.wustl.edu	37	11	68216290	68216290	+	Missense_Mutation	SNP	C	C	G	rs149645175	byFrequency	TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:68216290C>G	ENST00000294304.7	+	23	4706	c.4600C>G	c.(4600-4602)Cga>Gga	p.R1534G	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1534	Pro-rich.				adipose tissue development (GO:0060612)|anatomical structure regression (GO:0060033)|anterior/posterior pattern specification (GO:0009952)|apoptotic process involved in patterning of blood vessels (GO:1902262)|bone marrow development (GO:0048539)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|cell migration involved in gastrulation (GO:0042074)|cell-cell signaling involved in mammary gland development (GO:0060764)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic limb morphogenesis (GO:0030326)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocytosis (GO:0006897)|extracellular matrix-cell signaling (GO:0035426)|gastrulation with mouth forming second (GO:0001702)|glucose catabolic process (GO:0006007)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|osteoblast development (GO:0002076)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of mitosis (GO:0045840)|positive regulation of osteoblast proliferation (GO:0033690)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of bone remodeling (GO:0046850)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to peptide hormone (GO:0043434)|retina morphogenesis in camera-type eye (GO:0060042)|retinal blood vessel morphogenesis (GO:0061304)|somatic stem cell maintenance (GO:0035019)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	coreceptor activity (GO:0015026)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTACATCATTCGAGGAATGGC	0.622													C|||	2	0.000399361	0.0015	0.0	5008	,	,		15356	0.0		0.0	False		,,,				2504	0.0																0			GRCh37	CM053970	LRP5	M	rs149645175	C	GLY/ARG	1,4399	2.1+/-5.4	0,1,2199	63.0	52.0	56.0		4600	2.7	0.8	11	dbSNP_134	56	0,8588		0,0,4294	no	missense	LRP5	NM_002335.2	125	0,1,6493	GG,GC,CC		0.0,0.0227,0.0077	probably-damaging	1534/1616	68216290	1,12987	2200	4294	6494	SO:0001583	missense	4041			AF064548	CCDS8181.1	11q13.4	2014-01-28	2003-03-12		ENSG00000162337	ENSG00000162337		"""Low density lipoprotein receptors"""	6697	protein-coding gene	gene with protein product		603506	"""osteoporosis pseudoglioma syndrome"", ""exudative vitreoretinopathy 1"""	LRP7, OPPG, EVR1		9714764, 10049586	Standard	XM_005273994		Approved	LR3, BMND1, HBM, OPS, OPTA1, VBCH2, EVR4	uc001ont.3	O75197	OTTHUMG00000167570	ENST00000294304.7:c.4600C>G	11.37:g.68216290C>G	ENSP00000294304:p.Arg1534Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96TD6|Q9UES7|Q9UP66	Missense_Mutation	SNP	pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.R1534G	ENST00000294304.7	37	c.4600	CCDS8181.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.84|10.84	1.464390|1.464390	0.26335|0.26335	2.27E-4|2.27E-4	0.0|0.0	ENSG00000162337|ENSG00000162337	ENST00000529702|ENST00000294304	.|D	.|0.94376	.|-3.41	4.73|4.73	2.74|2.74	0.32292|0.32292	.|.	.|0.000000	.|0.38058	.|U	.|0.001837	D|D	0.95376|0.95376	0.8499|0.8499	M|M	0.72118|0.72118	2.19|2.19	0.49915|0.49915	D|D	0.999833|0.999833	.|D;D	.|0.61080	.|0.989;0.989	.|D;D	.|0.66497	.|0.944;0.944	D|D	0.94768|0.94768	0.7942|0.7942	5|10	.|0.46703	.|T	.|0.11	.|.	13.3404|13.3404	0.60540|0.60540	0.3999:0.6001:0.0:0.0|0.3999:0.6001:0.0:0.0	.|.	.|1534;1534	.|Q9UES7;O75197	.|.;LRP5_HUMAN	L|G	90|1534	.|ENSP00000294304:R1534G	.|ENSP00000294304:R1534G	F|R	+|+	3|1	2|2	LRP5|LRP5	67972866|67972866	1.000000|1.000000	0.71417|0.71417	0.828000|0.828000	0.32881|0.32881	0.002000|0.002000	0.02628|0.02628	3.212000|3.212000	0.51145|0.51145	1.214000|1.214000	0.43395|0.43395	0.555000|0.555000	0.69702|0.69702	TTC|CGA	LRP5	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6		0.622	LRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP5	HGNC	protein_coding	OTTHUMT00000395088.1	C	NM_002335		68216290	+1	no_errors	ENST00000294304	ensembl	human	known	70_37	missense	SNP	1.000	G
LRRK1	79705	genome.wustl.edu	37	15	101606067	101606067	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr15:101606067G>C	ENST00000388948.3	+	32	5784	c.5425G>C	c.(5425-5427)Gag>Cag	p.E1809Q	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000532145.1_3'UTR|LRRK1_ENST00000284395.5_Missense_Mutation_p.E1806Q	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAAGGTGCCTGAGGGGGACTC	0.632																																																	0													46.0	53.0	51.0					15																	101606067		2041	4188	6229	SO:0001583	missense	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5425G>C	15.37:g.101606067G>C	ENSP00000373600:p.Glu1809Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.E1809Q	ENST00000388948.3	37	c.5425	CCDS42086.1	15	.	.	.	.	.	.	.	.	.	.	G	7.365	0.625703	0.14257	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.74209	-0.79;-0.82	5.7	0.657	0.17850	.	0.848816	0.11096	N	0.600275	T	0.54886	0.1886	N	0.19112	0.55	0.09310	N	1	B	0.11235	0.004	B	0.12156	0.007	T	0.36553	-0.9743	10	0.30854	T	0.27	.	5.4199	0.16394	0.3302:0.0:0.5474:0.1224	.	1809	Q38SD2	LRRK1_HUMAN	Q	1809;1806;500;363	ENSP00000373600:E1809Q;ENSP00000284395:E1806Q	ENSP00000284395:E1806Q	E	+	1	0	LRRK1	99423590	0.944000	0.32072	0.000000	0.03702	0.172000	0.22775	1.442000	0.35046	-0.119000	0.11830	0.655000	0.94253	GAG	LRRK1	-	NULL		0.632	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	G	NM_024652		101606067	+1	no_errors	ENST00000388948	ensembl	human	known	70_37	missense	SNP	0.000	C
LUM	4060	genome.wustl.edu	37	12	91502639	91502639	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:91502639C>T	ENST00000266718.4	-	2	572	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	40	Cys-rich.|LRRNT.				carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrillar collagen trimer (GO:0005583)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CAGTTACATTCTGGTGCACAG	0.433																																																	0													109.0	103.0	105.0					12																	91502639		2203	4300	6503	SO:0001583	missense	4060			BT006707	CCDS9038.1	12q21.33	2014-06-13			ENSG00000139329			"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	6724	protein-coding gene	gene with protein product	"""lumican proteoglycan"""	600616		LDC		7558030	Standard	NM_002345		Approved	SLRR2D	uc001tbm.3	P51884	OTTHUMG00000170074	ENST00000266718.4:c.118G>A	12.37:g.91502639C>T	ENSP00000266718:p.Glu40Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6R5|Q96QM7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.E40K	ENST00000266718.4	37	c.118	CCDS9038.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.242387	0.95272	.	.	ENSG00000139329	ENST00000266718	D	0.96554	-4.05	5.66	5.66	0.87406	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98182	0.9399	M	0.84082	2.675	0.80722	D	1	D	0.59767	0.986	D	0.67103	0.949	D	0.98415	1.0574	10	0.66056	D	0.02	-19.1257	20.1225	0.97967	0.0:1.0:0.0:0.0	.	40	P51884	LUM_HUMAN	K	40	ENSP00000266718:E40K	ENSP00000266718:E40K	E	-	1	0	LUM	90026770	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.445000	0.80570	2.831000	0.97527	0.650000	0.86243	GAA	LUM	-	pfam_LRR-contain_N,smart_LRR-contain_N		0.433	LUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUM	HGNC	protein_coding	OTTHUMT00000407150.2	C	NM_002345		91502639	-1	no_errors	ENST00000266718	ensembl	human	known	70_37	missense	SNP	1.000	T
LYPD3	27076	genome.wustl.edu	37	19	43967923	43967923	+	Splice_Site	SNP	T	T	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:43967923T>C	ENST00000244333.3	-	3	300		c.e3-2			NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3						cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				GTCCGTGGACTAGGGAGAGGG	0.647																																																	0													42.0	42.0	42.0					19																	43967923		2203	4300	6503	SO:0001630	splice_region_variant	27076			AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.212-2A>G	19.37:g.43967923T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UJ74	Splice_Site	SNP	-	e3-2	ENST00000244333.3	37	c.212-2	CCDS12620.1	19	.	.	.	.	.	.	.	.	.	.	T	14.78	2.638896	0.47153	.	.	ENSG00000124466	ENST00000244333;ENST00000377995	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.1662	0.48545	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LYPD3	48659763	0.988000	0.35896	0.931000	0.37212	0.398000	0.30690	2.376000	0.44292	1.976000	0.57569	0.456000	0.33151	.	LYPD3	-	-		0.647	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD3	HGNC	protein_coding	OTTHUMT00000463177.1	T	NM_014400	Intron	43967923	-1	no_errors	ENST00000244333	ensembl	human	known	70_37	splice_site	SNP	0.957	C
LYPD5	284348	genome.wustl.edu	37	19	44302748	44302748	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:44302748C>T	ENST00000377950.3	-	4	456	c.376G>A	c.(376-378)Gac>Aac	p.D126N	LYPD5_ENST00000414615.2_Missense_Mutation_p.D83N|AC115522.3_ENST00000595680.1_lincRNA|LYPD5_ENST00000594013.1_Missense_Mutation_p.D83N	NM_001031749.2	NP_001026919.2	Q6UWN5	LYPD5_HUMAN	LY6/PLAUR domain containing 5	126						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	8		Prostate(69;0.0352)				GTCGGCGGGTCGGGTGCTGGC	0.672																																																	0													48.0	45.0	46.0					19																	44302748		2203	4298	6501	SO:0001583	missense	284348			AK055031	CCDS12631.1, CCDS46096.1	19q13.31	2008-02-05				ENSG00000159871			26397	protein-coding gene	gene with protein product						12477932	Standard	NM_182573		Approved	FLJ30469	uc002oxm.4	Q6UWN5		ENST00000377950.3:c.376G>A	19.37:g.44302748C>T	ENSP00000367185:p.Asp126Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PEX9|Q96DR2	Missense_Mutation	SNP	pfam_LY6_UPAR	p.D126N	ENST00000377950.3	37	c.376	CCDS46096.1	19	.	.	.	.	.	.	.	.	.	.	C	2.236	-0.375017	0.05034	.	.	ENSG00000159871	ENST00000377950;ENST00000414615	T;T	0.21191	3.32;2.02	4.25	-7.43	0.01383	.	0.789406	0.10802	N	0.632615	T	0.06645	0.0170	N	0.03608	-0.345	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.40887	-0.9539	10	0.06236	T	0.91	-12.833	13.7882	0.63123	0.0:0.6499:0.0:0.3501	.	126	Q6UWN5	LYPD5_HUMAN	N	126;83	ENSP00000367185:D126N;ENSP00000408433:D83N	ENSP00000367185:D126N	D	-	1	0	LYPD5	48994588	0.001000	0.12720	0.001000	0.08648	0.052000	0.14988	-1.462000	0.02364	-1.866000	0.01145	-1.051000	0.02340	GAC	LYPD5	-	NULL		0.672	LYPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD5	HGNC	protein_coding	OTTHUMT00000463611.1	C	NM_182573		44302748	-1	no_errors	ENST00000377950	ensembl	human	known	70_37	missense	SNP	0.001	T
MAB21L1	4081	genome.wustl.edu	37	13	36049469	36049469	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr13:36049469C>G	ENST00000379919.4	-	1	1363	c.807G>C	c.(805-807)ttG>ttC	p.L269F	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	269					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GGTAATTGTTCAAGGGCTGGC	0.542																																																	0													80.0	80.0	80.0					13																	36049469		2203	4300	6503	SO:0001583	missense	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.807G>C	13.37:g.36049469C>G	ENSP00000369251:p.Leu269Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6I9T5	Missense_Mutation	SNP	pfam_Mab-21_dom	p.L269F	ENST00000379919.4	37	c.807	CCDS9353.1	13	.	.	.	.	.	.	.	.	.	.	C	11.12	1.545869	0.27652	.	.	ENSG00000180660	ENST00000379919	T	0.11930	2.73	5.76	-4.0	0.04057	.	0.000000	0.85682	D	0.000000	T	0.25568	0.0622	L	0.34521	1.04	0.52501	D	0.999952	P	0.50272	0.933	P	0.62298	0.9	T	0.00668	-1.1618	10	0.34782	T	0.22	-45.8062	26.4153	0.99996	0.0718:0.143:0.7852:0.0	.	269	Q13394	MB211_HUMAN	F	269	ENSP00000369251:L269F	ENSP00000369251:L269F	L	-	3	2	MAB21L1	34947469	0.582000	0.26749	0.792000	0.32020	0.362000	0.29581	-0.447000	0.06828	-1.379000	0.02118	-0.175000	0.13238	TTG	MAB21L1	-	pfam_Mab-21_dom		0.542	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	HGNC	protein_coding	OTTHUMT00000044459.3	C	NM_005584		36049469	-1	no_errors	ENST00000379919	ensembl	human	known	70_37	missense	SNP	0.588	G
MAOB	4129	genome.wustl.edu	37	X	43698137	43698137	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:43698137C>T	ENST00000378069.4	-	3	403	c.256G>A	c.(256-258)Gag>Aag	p.E86K	MAOB_ENST00000536181.1_Missense_Mutation_p.E70K|MAOB_ENST00000538942.1_Missense_Mutation_p.E70K|MAOB_ENST00000487544.1_5'UTR	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	86					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	ATCAGACGCTCAACCTCATTC	0.423																																																	0													144.0	121.0	129.0					X																	43698137		2203	4300	6503	SO:0001583	missense	4129				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.256G>A	X.37:g.43698137C>T	ENSP00000367309:p.Glu86Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.E86K	ENST00000378069.4	37	c.256	CCDS14261.1	X	.	.	.	.	.	.	.	.	.	.	C	22.4	4.284372	0.80803	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	D;D;D	0.92348	-3.02;-3.02;-3.02	5.13	4.24	0.50183	Amine oxidase (1);	0.050336	0.85682	D	0.000000	D	0.93595	0.7955	L	0.59436	1.845	0.58432	D	0.999999	D;D;D	0.64830	0.994;0.991;0.97	P;P;P	0.59948	0.866;0.844;0.844	D	0.92135	0.5715	10	0.35671	T	0.21	-14.7437	13.3996	0.60874	0.0:0.7077:0.2923:0.0	.	70;86;86	B7Z5H3;Q8TBI1;P27338	.;.;AOFB_HUMAN	K	86;70;70	ENSP00000367309:E86K;ENSP00000441613:E70K;ENSP00000442240:E70K	ENSP00000367309:E86K	E	-	1	0	MAOB	43583081	0.997000	0.39634	0.884000	0.34674	0.961000	0.63080	2.864000	0.48404	1.009000	0.39289	0.513000	0.50165	GAG	MAOB	-	pfam_Amino_oxidase		0.423	MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAOB	HGNC	protein_coding	OTTHUMT00000056303.1	C	NM_000898		43698137	-1	no_errors	ENST00000378069	ensembl	human	known	70_37	missense	SNP	1.000	T
MAP3K9	4293	genome.wustl.edu	37	14	71267556	71267556	+	Silent	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr14:71267556G>C	ENST00000554752.2	-	2	647	c.648C>G	c.(646-648)ctC>ctG	p.L216L	MAP3K9_ENST00000381250.4_Silent_p.L216L|MAP3K9_ENST00000555993.2_Silent_p.L216L	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	216	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGACCAAGCAGAGGTTGGGCT	0.512																																					GBM(114;411 1587 13539 28235 50070)												0													111.0	98.0	102.0					14																	71267556		2203	4300	6503	SO:0001819	synonymous_variant	4293			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.648C>G	14.37:g.71267556G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_Regulat_G_prot_signal_superfam,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.L216	ENST00000554752.2	37	c.648		14																																																																																			MAP3K9	-	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.512	MAP3K9-001	KNOWN	basic	protein_coding	MAP3K9	HGNC	protein_coding	OTTHUMT00000412550.2	G			71267556	-1	no_errors	ENST00000555993	ensembl	human	known	70_37	silent	SNP	1.000	C
MAP4	4134	genome.wustl.edu	37	3	47953286	47953286	+	Intron	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:47953286C>T	ENST00000360240.6	-	8	2518				MAP4_ENST00000383737.4_Intron|MAP4_ENST00000264724.11_5'Flank|MAP4_ENST00000426837.2_Silent_p.L892L|MAP4_ENST00000395734.3_Intron	NM_002375.4	NP_002366.2	P27816	MAP4_HUMAN	microtubule-associated protein 4						cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|microtubule sliding (GO:0051012)|mitotic spindle organization (GO:0007052)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|microtubule cytoskeleton (GO:0015630)|mitotic spindle (GO:0072686)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)	Docetaxel(DB01248)|Paclitaxel(DB01229)	CCTCTACTCTCAGCTTAGACT	0.433																																																	0																																										SO:0001627	intron_variant	4134				CCDS33750.1, CCDS46818.1, CCDS46821.1	3p21	2008-07-18			ENSG00000047849	ENSG00000047849			6862	protein-coding gene	gene with protein product		157132				1905296	Standard	NM_002375		Approved		uc003csb.2	P27816	OTTHUMG00000156828	ENST00000360240.6:c.1999+3020G>A	3.37:g.47953286C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13082|Q59FT2|Q68D74|Q6ZUW9|Q86V26|Q96A76|Q96NS9	Silent	SNP	pfam_Tau/MAP_tubulin-bd_rpt	p.L892	ENST00000360240.6	37	c.2676	CCDS33750.1	3																																																																																			MAP4	-	NULL		0.433	MAP4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP4	HGNC	protein_coding	OTTHUMT00000346085.1	C	NM_002375		47953286	-1	no_errors	ENST00000426837	ensembl	human	putative	70_37	silent	SNP	0.000	T
MAP6D1	79929	genome.wustl.edu	37	3	183542976	183542976	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:183542976G>C	ENST00000318631.3	-	1	390	c.360C>G	c.(358-360)atC>atG	p.I120M	MAP6D1_ENST00000463801.1_5'UTR|MAP6D1_ENST00000431348.1_Missense_Mutation_p.I120M	NM_024871.2	NP_079147.1	Q9H9H5	MA6D1_HUMAN	MAP6 domain containing 1	120					dendrite morphogenesis (GO:0048813)|lysosome localization (GO:0032418)|microtubule cytoskeleton organization (GO:0000226)|N-terminal peptidyl-L-cysteine N-palmitoylation (GO:0018009)|negative regulation of microtubule depolymerization (GO:0007026)	cis-Golgi network (GO:0005801)|Golgi-associated vesicle (GO:0005798)|microtubule (GO:0005874)				endometrium(1)|lung(1)	2	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;5.15e-42)|Epithelial(37;4.29e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCGCGTCGCCGATGGGCAGCA	0.756																																																	0													2.0	3.0	3.0					3																	183542976		1627	3425	5052	SO:0001583	missense	79929			BC006434	CCDS3247.1	3q27.1	2005-12-22			ENSG00000180834	ENSG00000180834			25753	protein-coding gene	gene with protein product		610593				12477932	Standard	NM_024871		Approved	FLJ12748	uc003fmc.2	Q9H9H5	OTTHUMG00000156900	ENST00000318631.3:c.360C>G	3.37:g.183542976G>C	ENSP00000314560:p.Ile120Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_STOP/FAM154	p.I120M	ENST00000318631.3	37	c.360	CCDS3247.1	3	.	.	.	.	.	.	.	.	.	.	G	13.84	2.355950	0.41700	.	.	ENSG00000180834	ENST00000318631;ENST00000431348	T;T	0.19250	2.16;2.16	2.57	-0.315	0.12746	.	1.248730	0.06061	U	0.658314	T	0.18964	0.0455	N	0.22421	0.69	0.09310	N	1	P	0.38992	0.653	P	0.45310	0.476	T	0.35500	-0.9786	10	0.48119	T	0.1	.	6.4795	0.22055	0.3742:0.0:0.6258:0.0	.	120	Q9H9H5	MA6D1_HUMAN	M	120	ENSP00000314560:I120M;ENSP00000388945:I120M	ENSP00000314560:I120M	I	-	3	3	MAP6D1	185025670	0.094000	0.21725	0.359000	0.25824	0.067000	0.16453	-0.396000	0.07278	-0.100000	0.12241	-0.463000	0.05309	ATC	MAP6D1	-	NULL		0.756	MAP6D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP6D1	HGNC	protein_coding	OTTHUMT00000346516.1	G	NM_024871		183542976	-1	no_errors	ENST00000318631	ensembl	human	known	70_37	missense	SNP	0.003	C
MAPK9	5601	genome.wustl.edu	37	5	179676112	179676112	+	Silent	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:179676112C>T	ENST00000452135.2	-	6	775	c.477G>A	c.(475-477)gtG>gtA	p.V159V	MAPK9_ENST00000455781.1_Silent_p.V159V|MAPK9_ENST00000425491.2_Silent_p.V159V|MAPK9_ENST00000347470.4_Silent_p.V159V|MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000343111.6_Silent_p.V159V|MAPK9_ENST00000539014.1_Silent_p.V159V|MAPK9_ENST00000393360.3_Silent_p.V159V|MAPK9_ENST00000524170.1_5'UTR			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	159	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to growth factor stimulus (GO:0071363)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV (GO:0034644)|central nervous system development (GO:0007417)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neuron projection development (GO:0031175)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell morphogenesis involved in differentiation (GO:0010770)|positive regulation of chemokine production (GO:0032722)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of prostaglandin biosynthetic process (GO:0031394)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|protein targeting to mitochondrion (GO:0006626)|regulation of JNK cascade (GO:0046328)|regulation of protein ubiquitination (GO:0031396)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to amine (GO:0014075)|response to cadmium ion (GO:0046686)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|JUN kinase activity (GO:0004705)|transcription factor binding (GO:0008134)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGTCTGATTTCACAACAATGT	0.458																																																	0													92.0	91.0	91.0					5																	179676112		2203	4300	6503	SO:0001819	synonymous_variant	5601			U09759	CCDS4453.1, CCDS4454.1, CCDS43409.1, CCDS43410.1, CCDS47356.1	5q35	2011-06-09			ENSG00000050748	ENSG00000050748	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6886	protein-coding gene	gene with protein product	"""Jun kinase"""	602896		PRKM9		8001819	Standard	NM_002752		Approved	JNK2, p54a, SAPK	uc003mls.4	P45984	OTTHUMG00000130934	ENST00000452135.2:c.477G>A	5.37:g.179676112C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0S3|B5BU66|B5M0B4|D3DWQ8|D3DWQ9|Q15708|Q15710|Q15711|Q8N5C5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK	p.V159	ENST00000452135.2	37	c.477	CCDS4453.1	5																																																																																			MAPK9	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.458	MAPK9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAPK9	HGNC	protein_coding	OTTHUMT00000253530.3	C			179676112	-1	no_errors	ENST00000452135	ensembl	human	known	70_37	silent	SNP	0.915	T
MBD5	55777	genome.wustl.edu	37	2	149247627	149247627	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:149247627G>A	ENST00000407073.1	+	12	4724	c.3727G>A	c.(3727-3729)Gaa>Aaa	p.E1243K	MBD5_ENST00000404807.1_Missense_Mutation_p.E1476K	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1243					glucose homeostasis (GO:0042593)|nervous system development (GO:0007399)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|regulation of multicellular organism growth (GO:0040014)|single-organism behavior (GO:0044708)	chromocenter (GO:0010369)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCTGCCTGGGGAACAGCACCC	0.413																																																	0													80.0	77.0	78.0					2																	149247627		2203	4300	6503	SO:0001583	missense	55777			AB040894	CCDS33302.1	2q23.2	2009-04-17			ENSG00000204406	ENSG00000204406			20444	protein-coding gene	gene with protein product		611472				12529184	Standard	NM_018328		Approved	FLJ11113, KIAA1461	uc002twm.4	Q9P267	OTTHUMG00000150440	ENST00000407073.1:c.3727G>A	2.37:g.149247627G>A	ENSP00000386049:p.Glu1243Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5HMQ4|A7E2B1|Q53SR1|Q9NUV6	Missense_Mutation	SNP	superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP	p.E1243K	ENST00000407073.1	37	c.3727	CCDS33302.1	2	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198716	0.38806	.	.	ENSG00000204406	ENST00000407073;ENST00000404807	T;T	0.49139	0.79;0.8	6.11	6.11	0.99139	.	0.000000	0.64402	D	0.000004	T	0.36799	0.0980	N	0.24115	0.695	0.38802	D	0.955219	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.006	T	0.15292	-1.0442	10	0.49607	T	0.09	-9.5387	14.832	0.70156	0.0681:0.0:0.9319:0.0	.	1476;1243	E9PHH0;Q9P267	.;MBD5_HUMAN	K	1243;1476	ENSP00000386049:E1243K;ENSP00000384672:E1476K	ENSP00000384672:E1476K	E	+	1	0	MBD5	148964097	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.111000	0.57838	2.906000	0.99361	0.655000	0.94253	GAA	MBD5	-	NULL		0.413	MBD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD5	HGNC	protein_coding	OTTHUMT00000318111.2	G			149247627	+1	no_errors	ENST00000407073	ensembl	human	known	70_37	missense	SNP	0.997	A
MBLAC1	255374	genome.wustl.edu	37	7	99725334	99725334	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:99725334G>C	ENST00000398075.2	+	2	715	c.316G>C	c.(316-318)Gac>Cac	p.D106H	RP11-506M12.1_ENST00000494221.1_RNA	NM_203397.1	NP_981942.1	A4D2B0	MBLC1_HUMAN	metallo-beta-lactamase domain containing 1	106							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|skin(1)	7						GGCCCCGGGAGACGTGACGCT	0.736																																																	0													6.0	7.0	7.0					7																	99725334		1852	4017	5869	SO:0001583	missense	255374			BC031288	CCDS43620.1	7q22	2014-02-12	2009-04-08		ENSG00000214309	ENSG00000214309			22180	protein-coding gene	gene with protein product							Standard	XM_005250250		Approved	MGC49416	uc003utp.3	A4D2B0	OTTHUMG00000154846	ENST00000398075.2:c.316G>C	7.37:g.99725334G>C	ENSP00000381150:p.Asp106His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N5X8	Missense_Mutation	SNP	pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.D106H	ENST00000398075.2	37	c.316	CCDS43620.1	7	.	.	.	.	.	.	.	.	.	.	G	15.19	2.761425	0.49468	.	.	ENSG00000214309	ENST00000398075;ENST00000421390	D;T	0.82167	-1.58;0.58	4.66	1.57	0.23409	Beta-lactamase-like (2);	0.203527	0.29002	U	0.013455	T	0.76688	0.4022	M	0.62723	1.935	0.09310	N	0.999999	B	0.21225	0.053	B	0.25291	0.059	T	0.69323	-0.5175	10	0.87932	D	0	.	4.2244	0.10574	0.0939:0.1586:0.5845:0.163	.	106	A4D2B0	MBLC1_HUMAN	H	106	ENSP00000381150:D106H;ENSP00000406055:D106H	ENSP00000381150:D106H	D	+	1	0	MBLAC1	99563270	0.985000	0.35326	0.568000	0.28447	0.147000	0.21601	2.319000	0.43788	1.074000	0.40909	0.561000	0.74099	GAC	MBLAC1	-	pfam_Beta-lactamas-like,smart_Beta-lactamas-like		0.736	MBLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBLAC1	HGNC	protein_coding	OTTHUMT00000337353.1	G	NM_203397		99725334	+1	no_errors	ENST00000398075	ensembl	human	known	70_37	missense	SNP	0.093	C
MBTPS1	8720	genome.wustl.edu	37	16	84132749	84132749	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:84132749C>G	ENST00000343411.3	-	3	825	c.330G>C	c.(328-330)caG>caC	p.Q110H		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	110					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCCCCGCTTTCTGTTTTTCTT	0.418																																																	0													187.0	175.0	179.0					16																	84132749		2200	4300	6500	SO:0001583	missense	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.330G>C	16.37:g.84132749C>G	ENSP00000344223:p.Gln110His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.Q110H	ENST00000343411.3	37	c.330	CCDS10941.1	16	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116712	0.37339	.	.	ENSG00000140943	ENST00000343411	T	0.49139	0.79	5.61	5.61	0.85477	.	0.157749	0.64402	D	0.000016	T	0.42154	0.1190	L	0.33485	1.01	0.41468	D	0.988089	B	0.06786	0.001	B	0.06405	0.002	T	0.17592	-1.0364	10	0.44086	T	0.13	-20.2688	19.6277	0.95684	0.0:1.0:0.0:0.0	.	110	Q14703	MBTP1_HUMAN	H	110	ENSP00000344223:Q110H	ENSP00000344223:Q110H	Q	-	3	2	MBTPS1	82690250	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.019000	0.30014	2.648000	0.89879	0.650000	0.86243	CAG	MBTPS1	-	NULL		0.418	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	C	NM_003791		84132749	-1	no_errors	ENST00000343411	ensembl	human	known	70_37	missense	SNP	1.000	G
MBTPS1	8720	genome.wustl.edu	37	16	84132775	84132775	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:84132775C>G	ENST00000343411.3	-	3	799	c.304G>C	c.(304-306)Gag>Cag	p.E102Q		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	102					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGAATCACCTCAAAATCACTA	0.408																																																	0													182.0	170.0	174.0					16																	84132775		2200	4300	6500	SO:0001583	missense	8720			D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.304G>C	16.37:g.84132775C>G	ENSP00000344223:p.Glu102Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.E102Q	ENST00000343411.3	37	c.304	CCDS10941.1	16	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346639	0.61073	.	.	ENSG00000140943	ENST00000343411	T	0.42513	0.97	5.61	4.66	0.58398	.	0.043578	0.85682	D	0.000000	T	0.44787	0.1310	L	0.54323	1.7	0.58432	D	0.999994	P	0.49961	0.93	P	0.45428	0.48	T	0.49244	-0.8960	10	0.66056	D	0.02	-34.0876	14.5039	0.67741	0.0:0.9293:0.0:0.0707	.	102	Q14703	MBTP1_HUMAN	Q	102	ENSP00000344223:E102Q	ENSP00000344223:E102Q	E	-	1	0	MBTPS1	82690276	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.412000	0.80091	1.376000	0.46267	0.650000	0.86243	GAG	MBTPS1	-	NULL		0.408	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS1	HGNC	protein_coding	OTTHUMT00000269080.2	C	NM_003791		84132775	-1	no_errors	ENST00000343411	ensembl	human	known	70_37	missense	SNP	1.000	G
MCF2L	23263	genome.wustl.edu	37	13	113681259	113681259	+	Intron	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr13:113681259G>A	ENST00000375608.3	+	4	426				MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000375597.4_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000397024.1_Missense_Mutation_p.D117N|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000375601.3_Intron			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCTCTCATCTGATGTGCTCGT	0.597																																																	0													26.0	24.0	24.0					13																	113681259		875	1989	2864	SO:0001627	intron_variant	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.368+2187G>A	13.37:g.113681259G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	NULL	p.D117N	ENST00000375608.3	37	c.349		13	.	.	.	.	.	.	.	.	.	.	G	3.551	-0.091671	0.07053	.	.	ENSG00000126217	ENST00000397024	.	.	.	0.534	0.534	0.17127	.	.	.	.	.	T	0.36331	0.0963	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31223	-0.9951	4	0.44086	T	0.13	.	.	.	.	.	.	.	.	N	117	.	ENSP00000380219:D117N	D	+	1	0	MCF2L	112729260	0.001000	0.12720	0.001000	0.08648	0.002000	0.02628	0.776000	0.26704	0.518000	0.28383	0.313000	0.20887	GAT	MCF2L	-	NULL		0.597	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	G			113681259	+1	no_errors	ENST00000397024	ensembl	human	putative	70_37	missense	SNP	0.001	A
MED1	5469	genome.wustl.edu	37	17	37566877	37566877	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:37566877C>G	ENST00000394287.3	-	17	1802	c.1597G>C	c.(1597-1599)Gaa>Caa	p.E533Q	MED1_ENST00000300651.6_Missense_Mutation_p.E533Q			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACCATGTCTTCAACTGTCTCT	0.532										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													101.0	96.0	98.0					17																	37566877		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1597G>C	17.37:g.37566877C>G	ENSP00000377828:p.Glu533Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.E533Q	ENST00000394287.3	37	c.1597		17	.	.	.	.	.	.	.	.	.	.	C	18.06	3.539436	0.65085	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T;T	0.55413	0.52;0.52	5.8	5.8	0.92144	.	.	.	.	.	T	0.63462	0.2513	L	0.27053	0.805	0.80722	D	1	D;D	0.67145	0.993;0.996	D;D	0.78314	0.979;0.991	T	0.63382	-0.6650	9	0.49607	T	0.09	-14.153	20.0505	0.97625	0.0:1.0:0.0:0.0	.	533;533	Q15648;Q15648-3	MED1_HUMAN;.	Q	533	ENSP00000377828:E533Q;ENSP00000300651:E533Q	ENSP00000300651:E533Q	E	-	1	0	MED1	34820403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.456000	0.80751	2.739000	0.93911	0.561000	0.74099	GAA	MED1	-	NULL		0.532	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1	C	NM_004774		37566877	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	1.000	G
METAP1D	254042	genome.wustl.edu	37	2	172930371	172930371	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:172930371C>T	ENST00000315796.4	+	4	775	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	METAP1D_ENST00000488581.1_Intron	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	130					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TCTTGTTCATCGGGAAATCAT	0.368																																																	0													210.0	172.0	185.0					2																	172930371		2203	4300	6503	SO:0001583	missense	254042			AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.388C>T	2.37:g.172930371C>T	ENSP00000315152:p.Arg130Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q1WNX3	Missense_Mutation	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1	p.R130W	ENST00000315796.4	37	c.388	CCDS2246.1	2	.	.	.	.	.	.	.	.	.	.	C	5.241	0.230000	0.09969	.	.	ENSG00000172878	ENST00000315796	T	0.76968	-1.06	5.68	3.87	0.44632	Peptidase M24, structural domain (3);	0.314175	0.39615	N	0.001313	T	0.71617	0.3361	L	0.58810	1.83	0.24283	N	0.995196	B	0.06786	0.001	B	0.01281	0.0	T	0.64931	-0.6291	10	0.72032	D	0.01	-8.3285	8.5518	0.33455	0.0:0.7392:0.1253:0.1355	.	130	Q6UB28	AMP1D_HUMAN	W	130	ENSP00000315152:R130W	ENSP00000315152:R130W	R	+	1	2	METAP1D	172638617	1.000000	0.71417	0.999000	0.59377	0.009000	0.06853	2.805000	0.47939	0.846000	0.35142	-0.145000	0.13849	CGG	METAP1D	-	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1		0.368	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METAP1D	HGNC	protein_coding	OTTHUMT00000255378.2	C	NM_199227		172930371	+1	no_errors	ENST00000315796	ensembl	human	known	70_37	missense	SNP	1.000	T
MEX3B	84206	genome.wustl.edu	37	15	82337845	82337845	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr15:82337845C>G	ENST00000329713.4	-	1	637	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	AC026956.1_ENST00000410589.1_RNA|MEX3B_ENST00000558133.1_Missense_Mutation_p.E68Q	NM_032246.4	NP_115622.2	Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	68	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						GGCACGCACTCGGTCATGTTC	0.657																																																	0													57.0	34.0	42.0					15																	82337845		2202	4300	6502	SO:0001583	missense	84206			AK131424	CCDS10319.1	15q25.1	2013-08-21	2013-08-21	2007-07-18	ENSG00000183496	ENSG00000183496		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	25297	protein-coding gene	gene with protein product		611008	"""ring finger and KH domain containing 3"", ""mex-3 homolog B (C. elegans)"""	RKHD3		11230166, 17267406	Standard	NM_032246		Approved	DKFZp434J0617, RNF195	uc002bgq.2	Q6ZN04	OTTHUMG00000147356	ENST00000329713.4:c.202G>C	15.37:g.82337845C>G	ENSP00000329918:p.Glu68Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0W1|Q8IVG2|Q9H0J0	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.E68Q	ENST00000329713.4	37	c.202	CCDS10319.1	15	.	.	.	.	.	.	.	.	.	.	C	20.3	3.963543	0.74016	.	.	ENSG00000183496	ENST00000329713	T	0.30981	1.51	3.79	3.79	0.43588	K Homology (1);K Homology, type 1, subgroup (1);	0.071844	0.53938	D	0.000053	T	0.45518	0.1346	L	0.43152	1.355	0.58432	D	0.999998	D	0.65815	0.995	D	0.65874	0.939	T	0.49418	-0.8942	10	0.87932	D	0	-20.0447	14.7938	0.69863	0.0:1.0:0.0:0.0	.	68	Q6ZN04	MEX3B_HUMAN	Q	68	ENSP00000329918:E68Q	ENSP00000329918:E68Q	E	-	1	0	MEX3B	80124900	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	5.415000	0.66411	1.945000	0.56424	0.305000	0.20034	GAG	MEX3B	-	pfam_KH_dom_type_1,smart_KH_dom		0.657	MEX3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEX3B	HGNC	protein_coding	OTTHUMT00000304000.1	C	XM_290645		82337845	-1	no_errors	ENST00000329713	ensembl	human	known	70_37	missense	SNP	1.000	G
MGAM	8972	genome.wustl.edu	37	7	141760129	141760129	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:141760129G>A	ENST00000549489.2	+	34	4173	c.4078G>A	c.(4078-4080)Gat>Aat	p.D1360N	MGAM_ENST00000475668.2_Missense_Mutation_p.D1360N	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1360	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGATTTTCCTGATGTTGTTGT	0.438																																																	0													286.0	244.0	258.0					7																	141760129		2080	4212	6292	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4078G>A	7.37:g.141760129G>A	ENSP00000447378:p.Asp1360Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.D1360N	ENST00000549489.2	37	c.4078	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	g	0.007	-1.980819	0.00448	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.88509	-2.39	3.89	0.812	0.18744	Glycoside hydrolase, superfamily (1);	.	.	.	.	T	0.56292	0.1975	N	0.00149	-1.99	0.09310	N	0.999997	B	0.02656	0.0	B	0.01281	0.0	T	0.58405	-0.7642	9	0.02654	T	1	.	7.6583	0.28388	0.4107:0.0:0.5893:0.0	.	1360	O43451	MGA_HUMAN	N	1360;1360;1237	ENSP00000447378:D1360N	ENSP00000316431:D1237N	D	+	1	0	MGAM	141406598	0.000000	0.05858	0.499000	0.27577	0.025000	0.11179	0.435000	0.21510	0.318000	0.23185	0.194000	0.17425	GAT	MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.438	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	G			141760129	+1	no_errors	ENST00000549489	ensembl	human	known	70_37	missense	SNP	0.987	A
STRBP	55342	genome.wustl.edu	37	9	125877117	125877117	+	Intron	SNP	G	G	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:125877117G>T	ENST00000530364.1	-	2	31							Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein						cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GCCCAGGGTTGGGGGCCATCA	0.617																																																	0																																										SO:0001627	intron_variant	81571			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000530364.1:c.255-5085C>A	9.37:g.125877117G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	RNA	SNP	-	NULL	ENST00000530364.1	37	NULL		9																																																																																			MIR600HG	-	-		0.617	STRBP-009	PUTATIVE	basic	processed_transcript	MIR600HG	HGNC	protein_coding	OTTHUMT00000392598.1	G			125877117	-1	no_errors	ENST00000449175	ensembl	human	known	70_37	rna	SNP	0.000	T
KMT2D	8085	genome.wustl.edu	37	12	49444286	49444286	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:49444286G>A	ENST00000301067.7	-	11	3084	c.3085C>T	c.(3085-3087)Cag>Tag	p.Q1029*		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1029	Pro-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)										AGGGAATGCTGAAGGAGTGGC	0.612																																																	0													71.0	80.0	77.0					12																	49444286		2079	4227	6306	SO:0001587	stop_gained	8085			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.3085C>T	12.37:g.49444286G>A	ENSP00000301067:p.Gln1029*	Somatic		WXS	Illumina HiSeq	Phase_IV	O14687	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,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.Q1029*	ENST00000301067.7	37	c.3085	CCDS44873.1	12	.	.	.	.	.	.	.	.	.	.	G	39	7.325545	0.98214	.	.	ENSG00000167548	ENST00000301067	.	.	.	3.98	3.98	0.46160	.	0.266370	0.20054	N	0.100228	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.4412	0.67318	0.0:0.0:1.0:0.0	.	.	.	.	X	1029	.	ENSP00000301067:Q1029X	Q	-	1	0	MLL2	47730553	0.693000	0.27728	0.995000	0.50966	0.781000	0.44180	3.514000	0.53422	2.165000	0.68154	0.558000	0.71614	CAG	MLL2	-	NULL		0.612	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	G			49444286	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	nonsense	SNP	0.998	A
MLLT6	4302	genome.wustl.edu	37	17	36883387	36883387	+	3'UTR	DEL	T	T	-			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:36883387delT	ENST00000325718.7	+	0	4909					NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					tgttgttgggttttttttttt	0.393			T	MLL	AL																																			Dom	yes		17	17q21	4302	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (AF17)"""		L	0																																										SO:0001624	3_prime_UTR_variant	4302				CCDS11327.1	17q21	2014-04-10	2001-11-28		ENSG00000108292	ENSG00000275023		"""Zinc fingers, PHD-type"""	7138	protein-coding gene	gene with protein product	"""Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 6"", ""trithorax homolog"""	600328	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 6"""			8058765	Standard	NM_005937		Approved	AF17, FLJ23480	uc002hqi.4	P55198	OTTHUMG00000188498	ENST00000325718.7:c.*1536T>-	17.37:g.36883387delT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q59F28|Q96IU3|Q9H5F6|Q9UF49	RNA	DEL	-	NULL	ENST00000325718.7	37	NULL	CCDS11327.1	17																																																																																			MLLT6	-	-		0.393	MLLT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLLT6	HGNC	protein_coding	OTTHUMT00000256799.1	T	NM_005937		36883387	+1	no_errors	ENST00000582830	ensembl	human	putative	70_37	rna	DEL	0.276	-
MSH4	4438	genome.wustl.edu	37	1	76288101	76288101	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:76288101C>G	ENST00000263187.3	+	7	1101	c.997C>G	c.(997-999)Cac>Gac	p.H333D		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	333					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AAGGAATAATCACACTCTCTT	0.308								Mismatch excision repair (MMR)																																									0													79.0	82.0	81.0					1																	76288101		2203	4296	6499	SO:0001583	missense	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.997C>G	1.37:g.76288101C>G	ENSP00000263187:p.His333Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C	p.H333D	ENST00000263187.3	37	c.997	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	C	8.844	0.942879	0.18281	.	.	ENSG00000057468	ENST00000263187	D	0.89746	-2.56	5.84	5.84	0.93424	DNA mismatch repair protein MutS, core (3);	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	L	0.31752	0.955	0.80722	D	1	B	0.29766	0.256	B	0.34873	0.191	T	0.76694	-0.2865	10	0.11182	T	0.66	1.1957	20.1535	0.98095	0.0:1.0:0.0:0.0	.	333	O15457	MSH4_HUMAN	D	333	ENSP00000263187:H333D	ENSP00000263187:H333D	H	+	1	0	MSH4	76060689	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.763000	0.68818	2.764000	0.94973	0.650000	0.86243	CAC	MSH4	-	pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core		0.308	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	HGNC	protein_coding	OTTHUMT00000026983.1	C	NM_002440		76288101	+1	no_errors	ENST00000263187	ensembl	human	known	70_37	missense	SNP	1.000	G
MTHFD1L	25902	genome.wustl.edu	37	6	151413669	151413669	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:151413669G>C	ENST00000367321.3	+	27	3188	c.2914G>C	c.(2914-2916)Gaa>Caa	p.E972Q	RP1-292B18.4_ENST00000415477.1_RNA	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	972	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TACCGAAACAGAACAAGTTAA	0.468																																																	0													79.0	75.0	76.0					6																	151413669		2203	4300	6503	SO:0001583	missense	25902			BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2914G>C	6.37:g.151413669G>C	ENSP00000356290:p.Glu972Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Missense_Mutation	SNP	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.E972Q	ENST00000367321.3	37	c.2914	CCDS5228.1	6	.	.	.	.	.	.	.	.	.	.	G	21.4	4.147884	0.78001	.	.	ENSG00000120254	ENST00000367321	T	0.23147	1.92	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.52419	0.1733	M	0.86953	2.85	0.80722	D	1	D;B;D	0.89917	0.999;0.18;1.0	D;B;D	0.87578	0.977;0.285;0.998	T	0.59606	-0.7423	10	0.72032	D	0.01	.	18.4037	0.90526	0.0:0.0:1.0:0.0	.	973;727;972	B7ZM99;B2RD24;Q6UB35	.;.;C1TM_HUMAN	Q	972	ENSP00000356290:E972Q	ENSP00000356290:E972Q	E	+	1	0	MTHFD1L	151455362	1.000000	0.71417	0.997000	0.53966	0.716000	0.41182	8.060000	0.89464	2.652000	0.90054	0.655000	0.94253	GAA	MTHFD1L	-	pfam_Formate_THF_ligase		0.468	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD1L	HGNC	protein_coding	OTTHUMT00000042699.1	G	NM_015440		151413669	+1	no_errors	ENST00000367321	ensembl	human	known	70_37	missense	SNP	1.000	C
MTNR1B	4544	genome.wustl.edu	37	11	92714917	92714917	+	Missense_Mutation	SNP	C	C	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:92714917C>A	ENST00000257068.2	+	2	534	c.528C>A	c.(526-528)ttC>ttA	p.F176L		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	176					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose homeostasis (GO:0042593)|regulation of insulin secretion (GO:0050796)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|melatonin receptor activity (GO:0008502)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Agomelatine(DB06594)|Melatonin(DB01065)|Ramelteon(DB00980)	TGCCCAACTTCTTTGTGGGGT	0.617																																																	0													102.0	101.0	102.0					11																	92714917		2201	4298	6499	SO:0001583	missense	4544			AB033598	CCDS8290.1	11q21-q22	2012-08-08			ENSG00000134640	ENSG00000134640		"""GPCR / Class A : Melatonin receptors"""	7464	protein-coding gene	gene with protein product		600804					Standard	NM_005959		Approved		uc001pdk.1	P49286	OTTHUMG00000167364	ENST00000257068.2:c.528C>A	11.37:g.92714917C>A	ENSP00000257068:p.Phe176Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Mel_1A_rcpt	p.F176L	ENST00000257068.2	37	c.528	CCDS8290.1	11	.	.	.	.	.	.	.	.	.	.	C	6.941	0.543433	0.13250	.	.	ENSG00000134640	ENST00000257068	T	0.33654	1.4	3.97	-0.506	0.11989	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.14570	0.0352	N	0.11284	0.12	0.47905	D	0.999546	B	0.14805	0.011	B	0.26969	0.075	T	0.30765	-0.9967	10	0.02654	T	1	-32.5982	8.1227	0.30980	0.0:0.2649:0.0:0.7351	.	176	P49286	MTR1B_HUMAN	L	176	ENSP00000257068:F176L	ENSP00000257068:F176L	F	+	3	2	MTNR1B	92354565	0.932000	0.31603	0.691000	0.30163	0.666000	0.39218	-0.105000	0.10907	0.025000	0.15241	0.491000	0.48974	TTC	MTNR1B	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn		0.617	MTNR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTNR1B	HGNC	protein_coding	OTTHUMT00000394323.1	C			92714917	+1	no_errors	ENST00000257068	ensembl	human	known	70_37	missense	SNP	0.978	A
MUC16	94025	genome.wustl.edu	37	19	9071033	9071033	+	Silent	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:9071033G>A	ENST00000397910.4	-	3	16616	c.16413C>T	c.(16411-16413)atC>atT	p.I5471I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5473	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTCTGAGAGATATTAGGAG	0.507																																																	0													132.0	130.0	130.0					19																	9071033		2025	4177	6202	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.16413C>T	19.37:g.9071033G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.I5471	ENST00000397910.4	37	c.16413	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.507	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	G	NM_024690		9071033	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.000	A
MUC17	140453	genome.wustl.edu	37	7	100678046	100678046	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:100678046G>A	ENST00000306151.4	+	3	3413	c.3349G>A	c.(3349-3351)Gag>Aag	p.E1117K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1117	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTCAGTTCTGAGGCTAGCAC	0.512																																																	0													462.0	376.0	405.0					7																	100678046		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.3349G>A	7.37:g.100678046G>A	ENSP00000302716:p.Glu1117Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E1117K	ENST00000306151.4	37	c.3349	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	3.032	-0.199339	0.06219	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.693	-0.411	0.12370	.	.	.	.	.	T	0.01320	0.0043	L	0.27053	0.805	0.09310	N	1	P	0.47604	0.898	B	0.34824	0.19	T	0.32025	-0.9922	9	0.07175	T	0.84	.	1.6319	0.02734	0.2761:0.0:0.3948:0.3291	.	1117	Q685J3	MUC17_HUMAN	K	1117	ENSP00000302716:E1117K	ENSP00000302716:E1117K	E	+	1	0	MUC17	100464766	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	0.136000	0.15974	-0.194000	0.10399	0.196000	0.17591	GAG	MUC17	-	NULL		0.512	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100678046	+1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.001	A
MUC17	140453	genome.wustl.edu	37	7	100679462	100679462	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:100679462G>C	ENST00000306151.4	+	3	4829	c.4765G>C	c.(4765-4767)Gag>Cag	p.E1589Q		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1589	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGTCAGTTCTGAGGCTAACAC	0.488																																																	0													243.0	230.0	235.0					7																	100679462		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4765G>C	7.37:g.100679462G>C	ENSP00000302716:p.Glu1589Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E1589Q	ENST00000306151.4	37	c.4765	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	G	2.812	-0.246809	0.05867	.	.	ENSG00000169876	ENST00000306151	T	0.02682	4.2	0.815	0.815	0.18763	.	.	.	.	.	T	0.01558	0.0050	L	0.29908	0.895	0.09310	N	1	P	0.42993	0.797	B	0.28709	0.093	T	0.46735	-0.9170	9	0.15952	T	0.53	.	5.0745	0.14625	0.0:0.0:1.0:0.0	.	1589	Q685J3	MUC17_HUMAN	Q	1589	ENSP00000302716:E1589Q	ENSP00000302716:E1589Q	E	+	1	0	MUC17	100466182	.	.	0.002000	0.10522	0.038000	0.13279	.	.	0.777000	0.33496	0.089000	0.15464	GAG	MUC17	-	NULL		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100679462	+1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.004	C
MUC4	4585	genome.wustl.edu	37	3	195511826	195511826	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:195511826G>C	ENST00000463781.3	-	2	7084	c.6625C>G	c.(6625-6627)Ctt>Gtt	p.L2209V	MUC4_ENST00000475231.1_Missense_Mutation_p.L2209V|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	998					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACAGGAAGAGGGGTGGCC	0.597																																																	0													33.0	27.0	28.0					3																	195511826		689	1590	2279	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6625C>G	3.37:g.195511826G>C	ENSP00000417498:p.Leu2209Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L2209V	ENST00000463781.3	37	c.6625	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	G	4.167	0.029578	0.08054	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.36699	1.27;1.24	.	.	.	.	.	.	.	.	T	0.20618	0.0496	N	0.19112	0.55	0.19300	N	0.999976	P	0.42203	0.773	B	0.42112	0.376	T	0.10086	-1.0645	7	.	.	.	.	2.8356	0.05513	3.0E-4:2.0E-4:0.5012:0.4983	.	2209	E7ESK3	.	V	2209	ENSP00000417498:L2209V;ENSP00000420243:L2209V	.	L	-	1	0	MUC4	196996221	0.012000	0.17670	0.063000	0.19743	0.033000	0.12548	0.778000	0.26732	0.064000	0.16427	0.064000	0.15345	CTT	MUC4	-	NULL		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195511826	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.930	C
MYH14	79784	genome.wustl.edu	37	19	50796879	50796879	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:50796879G>C	ENST00000596571.1	+	36	5281	c.5281G>C	c.(5281-5283)Gag>Cag	p.E1761Q	MYH14_ENST00000376970.2_Missense_Mutation_p.E1794Q|MYH14_ENST00000425460.1_Missense_Mutation_p.E1769Q|MYH14_ENST00000598205.1_Missense_Mutation_p.E1769Q|MYH14_ENST00000601313.1_Missense_Mutation_p.E1802Q|MYH14_ENST00000262269.8_Missense_Mutation_p.E1802Q|MYH14_ENST00000440075.2_Missense_Mutation_p.E1802Q			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1761					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|mitochondrion morphogenesis (GO:0070584)|neuronal action potential (GO:0019228)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)|skeletal muscle atrophy (GO:0014732)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue development (GO:0007519)|vocalization behavior (GO:0071625)	actomyosin (GO:0042641)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|stress fiber (GO:0001725)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GTTGGAGGAAGAGCTGGAGGA	0.627																																																	0													44.0	47.0	46.0					19																	50796879		2190	4292	6482	SO:0001583	missense	79784			AY165122	CCDS46151.1, CCDS54295.1, CCDS59411.1	19q13.33	2011-09-27	2009-11-19			ENSG00000105357		"""Myosins / Myosin superfamily : Class II"""	23212	protein-coding gene	gene with protein product		608568	"""myosin, heavy polypeptide 14"", ""myosin, heavy chain 14"""	DFNA4		12909352, 15015131, 17940200	Standard	NM_024729		Approved	FLJ13881, KIAA2034, MHC16, MYH17	uc010enu.1	Q7Z406		ENST00000596571.1:c.5281G>C	19.37:g.50796879G>C	ENSP00000472819:p.Glu1761Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1S2|C3TTN4|Q5CZ75|Q6XYE4|Q76B62|Q8WV23|Q96I22|Q9BT27|Q9BW35|Q9H882	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1802Q	ENST00000596571.1	37	c.5404	CCDS59411.1	19	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963548	0.74016	.	.	ENSG00000105357	ENST00000440075;ENST00000376970;ENST00000425460;ENST00000376965;ENST00000262269	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	3.61	3.61	0.41365	Myosin tail (1);	.	.	.	.	D	0.85318	0.5669	L	0.61036	1.89	0.47698	D	0.999493	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.86757	0.1964	9	0.87932	D	0	.	13.5351	0.61643	0.0:0.0:1.0:0.0	.	1802;1761;1769	Q7Z406-2;Q7Z406;Q7Z406-6	.;MYH14_HUMAN;.	Q	1802;1794;1769;1545;1802	ENSP00000406273:E1802Q;ENSP00000366169:E1794Q;ENSP00000407879:E1769Q;ENSP00000262269:E1802Q	ENSP00000262269:E1802Q	E	+	1	0	MYH14	55488691	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	9.455000	0.97625	2.311000	0.77944	0.407000	0.27541	GAG	MYH14	-	pfam_Myosin_tail		0.627	MYH14-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYH14	HGNC	protein_coding	OTTHUMT00000464710.2	G	NM_024729		50796879	+1	no_errors	ENST00000262269	ensembl	human	known	70_37	missense	SNP	1.000	C
NAT10	55226	genome.wustl.edu	37	11	34155888	34155888	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:34155888C>T	ENST00000257829.3	+	17	1963	c.1757C>T	c.(1756-1758)tCt>tTt	p.S586F	NAT10_ENST00000531159.2_Missense_Mutation_p.S514F|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	586	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GGGGAGATTTCTCGCCAGTCC	0.532																																																	0													136.0	119.0	125.0					11																	34155888		2202	4298	6500	SO:0001583	missense	55226			AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.1757C>T	11.37:g.34155888C>T	ENSP00000257829:p.Ser586Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.S586F	ENST00000257829.3	37	c.1757	CCDS7889.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.317734	0.95682	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.37235	1.21;1.21	5.83	5.83	0.93111	GCN5-related N-acetyltransferase (GNAT) domain (1);	0.000000	0.85682	D	0.000000	T	0.73505	0.3595	H	0.95114	3.625	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	T	0.81174	-0.1053	10	0.87932	D	0	-18.423	20.124	0.97972	0.0:1.0:0.0:0.0	.	586	Q9H0A0	NAT10_HUMAN	F	586;514	ENSP00000257829:S586F;ENSP00000433011:S514F	ENSP00000257829:S586F	S	+	2	0	NAT10	34112464	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.787000	0.85759	2.770000	0.95276	0.561000	0.74099	TCT	NAT10	-	superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom		0.532	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT10	HGNC	protein_coding	OTTHUMT00000388693.1	C	NM_024662		34155888	+1	no_errors	ENST00000257829	ensembl	human	known	70_37	missense	SNP	1.000	T
NEB	4703	genome.wustl.edu	37	2	152426701	152426701	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:152426701G>T	ENST00000172853.10	-	81	12368	c.12221C>A	c.(12220-12222)gCt>gAt	p.A4074D	NEB_ENST00000427231.2_Missense_Mutation_p.A5775D|NEB_ENST00000409198.1_Missense_Mutation_p.A4074D|NEB_ENST00000397345.3_Missense_Mutation_p.A5775D|NEB_ENST00000604864.1_Missense_Mutation_p.A5775D|NEB_ENST00000603639.1_Missense_Mutation_p.A5775D			P20929	NEBU_HUMAN	nebulin	4074					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACTGACCAGAGCCTGGGAATT	0.537																																																	0													51.0	51.0	51.0					2																	152426701		2008	4169	6177	SO:0001583	missense	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.12221C>A	2.37:g.152426701G>T	ENSP00000172853:p.Ala4074Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin	p.A5775D	ENST00000172853.10	37	c.17324		2	.	.	.	.	.	.	.	.	.	.	G	4.875	0.162706	0.09287	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.46819	0.86;0.86;0.86;0.86;0.86	5.95	2.15	0.27550	.	0.546974	0.21429	N	0.074681	T	0.26304	0.0642	N	0.25485	0.75	0.09310	N	1	B;B	0.23650	0.07;0.089	B;B	0.23275	0.039;0.045	T	0.18116	-1.0347	10	0.12430	T	0.62	.	3.8265	0.08856	0.1253:0.1141:0.5244:0.2361	.	4074;505	P20929;Q14215	NEBU_HUMAN;.	D	4074;5775;5775;123;505;4074	ENSP00000386259:A4074D;ENSP00000380505:A5775D;ENSP00000416578:A5775D;ENSP00000410961:A505D;ENSP00000172853:A4074D	ENSP00000172853:A4074D	A	-	2	0	NEB	152134947	0.001000	0.12720	0.237000	0.24090	0.113000	0.19764	0.896000	0.28377	0.125000	0.18397	-0.300000	0.09419	GCT	NEB	-	smart_Nebulin_35r-motif		0.537	NEB-201	KNOWN	basic	protein_coding	NEB	HGNC	protein_coding		G	NM_004543		152426701	-1	no_errors	ENST00000397345	ensembl	human	known	70_37	missense	SNP	0.001	T
NBEAL1	65065	genome.wustl.edu	37	2	204048102	204048102	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:204048102G>C	ENST00000449802.1	+	43	6942	c.6609G>C	c.(6607-6609)agG>agC	p.R2203S		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2203	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.									NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ATAAACATAGGAAAGCTTTGG	0.318																																																	0													71.0	71.0	71.0					2																	204048102		1806	4066	5872	SO:0001583	missense	65065			AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.6609G>C	2.37:g.204048102G>C	ENSP00000399903:p.Arg2203Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R2203S	ENST00000449802.1	37	c.6609	CCDS46495.1	2	.	.	.	.	.	.	.	.	.	.	G	18.25	3.583156	0.65992	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	D;D	0.83419	-1.72;-1.72	6.02	0.507	0.16967	BEACH domain (4);	0.043084	0.85682	D	0.000000	D	0.92629	0.7658	H	0.96576	3.845	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.91291	0.5059	10	0.87932	D	0	.	9.5839	0.39504	0.3991:0.0:0.6009:0.0	.	2203;2192	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	S	2203;2203;218	ENSP00000399903:R2203S;ENSP00000388466:R218S	ENSP00000344985:R2203S	R	+	3	2	NBEAL1	203756347	0.995000	0.38212	0.998000	0.56505	0.890000	0.51754	0.321000	0.19558	0.012000	0.14892	0.650000	0.86243	AGG	NBEAL1	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.318	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBEAL1	HGNC	protein_coding	OTTHUMT00000333982.4	G			204048102	+1	no_errors	ENST00000449802	ensembl	human	known	70_37	missense	SNP	0.994	C
NIPAL3	57185	genome.wustl.edu	37	1	24771731	24771731	+	Silent	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:24771731C>T	ENST00000374399.4	+	5	759	c.391C>T	c.(391-393)Ctg>Ttg	p.L131L	NIPAL3_ENST00000358028.4_Silent_p.L131L|NIPAL3_ENST00000003912.3_Silent_p.L49L|NIPAL3_ENST00000428131.1_Silent_p.L131L|NIPAL3_ENST00000339255.2_Silent_p.L131L	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	131						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						GAAAGACTTTCTGAGTAAGTT	0.373																																																	0													140.0	131.0	134.0					1																	24771731		2203	4300	6503	SO:0001819	synonymous_variant	57185			BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.391C>T	1.37:g.24771731C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A298|Q6MZT9|Q9BVE6	Silent	SNP	pfam_Mg_trans_NIPA	p.L131	ENST00000374399.4	37	c.391	CCDS30631.1	1																																																																																			NIPAL3	-	pfam_Mg_trans_NIPA		0.373	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL3	HGNC	protein_coding	OTTHUMT00000276996.1	C	NM_020448		24771731	+1	no_errors	ENST00000374399	ensembl	human	known	70_37	silent	SNP	0.996	T
NLRP6	171389	genome.wustl.edu	37	11	280785	280785	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:280785G>T	ENST00000312165.5	+	4	1051	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y	NLRP6_ENST00000534750.1_Missense_Mutation_p.D351Y	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	351	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGGCTTCTCCGACAAGGACAA	0.667																																																	0																																										SO:0001583	missense	171389			AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1051G>T	11.37:g.280785G>T	ENSP00000309767:p.Asp351Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9F3|E9PJZ8	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D351Y	ENST00000312165.5	37	c.1051	CCDS7693.1	11	.	.	.	.	.	.	.	.	.	.	G	13.00	2.107728	0.37242	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	T;T	0.78364	-1.17;-1.17	3.7	0.586	0.17434	NACHT nucleoside triphosphatase (1);	0.361737	0.20250	N	0.096100	D	0.84647	0.5518	M	0.82630	2.6	0.09310	N	1	D;D	0.71674	0.998;0.998	D;D	0.74674	0.984;0.975	T	0.73616	-0.3926	10	0.87932	D	0	.	4.756	0.13085	0.2129:0.3398:0.4473:0.0	.	351;351	E9PJZ8;P59044	.;NALP6_HUMAN	Y	351	ENSP00000433617:D351Y;ENSP00000309767:D351Y	ENSP00000309767:D351Y	D	+	1	0	NLRP6	270785	0.001000	0.12720	0.004000	0.12327	0.724000	0.41520	1.121000	0.31283	0.004000	0.14682	0.455000	0.32223	GAC	NLRP6	-	pfscan_NACHT_NTPase		0.667	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP6	HGNC	protein_coding	OTTHUMT00000239283.1	G	NM_138329		280785	+1	no_errors	ENST00000312165	ensembl	human	known	70_37	missense	SNP	0.019	T
NMT2	9397	genome.wustl.edu	37	10	15175359	15175359	+	Missense_Mutation	SNP	T	T	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:15175359T>G	ENST00000378165.4	-	4	475	c.395A>C	c.(394-396)gAa>gCa	p.E132A	NMT2_ENST00000378150.1_Missense_Mutation_p.E119A|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000535341.1_Missense_Mutation_p.E119A|NMT2_ENST00000540259.1_5'UTR	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	132					intracellular transport of virus (GO:0075733)|N-terminal protein myristoylation (GO:0006499)|phototransduction, visible light (GO:0007603)|protein lipoylation (GO:0009249)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|glycylpeptide N-tetradecanoyltransferase activity (GO:0004379)			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TGTTATGACTTCATCTGAACA	0.388																																					Melanoma(117;1345 1645 4130 12688 30625)												0													139.0	136.0	137.0					10																	15175359		2203	4300	6503	SO:0001583	missense	9397			AF043325	CCDS7109.1	10p13	2006-07-11			ENSG00000152465	ENSG00000152465			7858	protein-coding gene	gene with protein product		603801				9506952	Standard	NM_004808		Approved		uc001inz.1	O60551	OTTHUMG00000017723	ENST00000378165.4:c.395A>C	10.37:g.15175359T>G	ENSP00000367407:p.Glu132Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ49|Q53Y38|Q5VUC8|Q9BRB4	Missense_Mutation	SNP	pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase	p.E163A	ENST00000378165.4	37	c.488	CCDS7109.1	10	.	.	.	.	.	.	.	.	.	.	T	24.8	4.569516	0.86439	.	.	ENSG00000152465	ENST00000378165;ENST00000378150;ENST00000378143;ENST00000535341	T	0.55052	0.54	5.54	5.54	0.83059	Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	L	0.56280	1.765	0.80722	D	1	D;D;D	0.56968	0.96;0.978;0.96	P;P;P	0.56612	0.648;0.802;0.648	T	0.66143	-0.5997	10	0.59425	D	0.04	-33.2604	15.6853	0.77405	0.0:0.0:0.0:1.0	.	132;119;132	B2RCF3;Q5VUC6;O60551	.;.;NMT2_HUMAN	A	132;119;163;119	ENSP00000367407:E132A	ENSP00000367385:E163A	E	-	2	0	NMT2	15215365	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	7.977000	0.88081	2.093000	0.63338	0.533000	0.62120	GAA	NMT2	-	superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase		0.388	NMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMT2	HGNC	protein_coding	OTTHUMT00000046958.2	T	NM_004808		15175359	-1	no_errors	ENST00000378143	ensembl	human	known	70_37	missense	SNP	1.000	G
NPTX1	4884	genome.wustl.edu	37	17	78449452	78449452	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:78449452C>T	ENST00000306773.4	-	2	668	c.511G>A	c.(511-513)Gat>Aat	p.D171N	NPTX1_ENST00000575212.1_5'UTR	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	171					axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TCCAGCTCATCGATCTTGCTC	0.637																																																	0													58.0	50.0	53.0					17																	78449452		2203	4299	6502	SO:0001583	missense	4884			U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.511G>A	17.37:g.78449452C>T	ENSP00000307549:p.Asp171Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXH3|Q5FWE6	Missense_Mutation	SNP	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.D171N	ENST00000306773.4	37	c.511	CCDS32762.1	17	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845136	0.51164	.	.	ENSG00000171246	ENST00000306773	T	0.09723	2.95	3.7	3.7	0.42460	.	0.108201	0.64402	D	0.000010	T	0.18087	0.0434	L	0.51422	1.61	0.51233	D	0.999912	D	0.69078	0.997	P	0.53760	0.734	T	0.04440	-1.0951	10	0.23302	T	0.38	-10.0196	14.7467	0.69494	0.0:1.0:0.0:0.0	.	171	Q15818	NPTX1_HUMAN	N	171	ENSP00000307549:D171N	ENSP00000307549:D171N	D	-	1	0	NPTX1	76064047	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.579000	0.67457	2.068000	0.61886	0.561000	0.74099	GAT	NPTX1	-	NULL		0.637	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPTX1	HGNC	protein_coding	OTTHUMT00000438051.1	C			78449452	-1	no_errors	ENST00000306773	ensembl	human	known	70_37	missense	SNP	1.000	T
NUP153	9972	genome.wustl.edu	37	6	17626044	17626044	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:17626044G>C	ENST00000262077.2	-	19	3895	c.3896C>G	c.(3895-3897)tCt>tGt	p.S1299C	NUP153_ENST00000537253.1_Missense_Mutation_p.S1330C	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1299					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TGTACCTGCAGAGCTAGATGT	0.413																																																	0													77.0	74.0	75.0					6																	17626044		2203	4300	6503	SO:0001583	missense	9972			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.3896C>G	6.37:g.17626044G>C	ENSP00000262077:p.Ser1299Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.S1330C	ENST00000262077.2	37	c.3989	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	G	19.93	3.918630	0.73098	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.08896	3.04;3.04	5.76	5.76	0.90799	.	0.128272	0.35970	N	0.002871	T	0.11537	0.0281	L	0.51422	1.61	0.80722	D	1	D;D;D	0.60160	0.983;0.972;0.987	P;P;P	0.56751	0.805;0.621;0.694	T	0.00456	-1.1728	10	0.59425	D	0.04	-12.5093	13.1961	0.59738	0.0726:0.0:0.9273:0.0	.	1330;1279;1299	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	C	1299;1279;1330	ENSP00000262077:S1299C;ENSP00000444029:S1330C	ENSP00000262077:S1299C	S	-	2	0	NUP153	17734023	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.844000	0.62846	2.726000	0.93360	0.655000	0.94253	TCT	NUP153	-	NULL		0.413	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	G			17626044	-1	no_errors	ENST00000537253	ensembl	human	known	70_37	missense	SNP	0.983	C
NXF4	55999	genome.wustl.edu	37	X	101816848	101816848	+	RNA	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:101816848C>T	ENST00000360035.2	+	0	364					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						GTGTGAAATGCCATAGTGAAT	0.423																																																	0																																												55999			AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101816848C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000360035.2	37	NULL		X																																																																																			NXF4	-	-		0.423	NXF4-001	KNOWN	basic	processed_transcript	NXF4	HGNC	pseudogene	OTTHUMT00000095720.1	C			101816848	+1	no_errors	ENST00000360035	ensembl	human	known	70_37	rna	SNP	0.000	T
OLA1	29789	genome.wustl.edu	37	2	174988002	174988002	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:174988002C>T	ENST00000409546.1	-	7	1324	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	OLA1_ENST00000392560.2_5'UTR|OLA1_ENST00000344357.5_Missense_Mutation_p.E54K|OLA1_ENST00000284719.3_Missense_Mutation_p.E212K|OLA1_ENST00000428402.2_Missense_Mutation_p.E212K					Obg-like ATPase 1											breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TTCAACACTTCAATCTAAAGT	0.289																																																	0													41.0	41.0	41.0					2																	174988002		2200	4296	6496	SO:0001583	missense	29789				CCDS2255.1, CCDS42779.1	2q31.1	2014-06-24	2007-07-27	2007-07-27	ENSG00000138430	ENSG00000138430			28833	protein-coding gene	gene with protein product		611175	"""GTP-binding protein 9 (putative)"""	GTPBP9		17430889, 24486488	Standard	NM_013341		Approved	PTD004	uc002uih.3	Q9NTK5	OTTHUMG00000132335	ENST00000409546.1:c.694G>A	2.37:g.174988002C>T	ENSP00000386350:p.Glu232Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092	p.E212K	ENST00000409546.1	37	c.634		2	.	.	.	.	.	.	.	.	.	.	C	25.4	4.631258	0.87660	.	.	ENSG00000138430	ENST00000284719;ENST00000344357;ENST00000428402;ENST00000409546;ENST00000429575	T;T;T;T	0.44482	2.25;2.25;0.92;2.25	5.71	5.71	0.89125	TGS-like domain (1);	0.146062	0.64402	D	0.000010	T	0.56031	0.1958	L	0.52759	1.655	0.80722	D	1	B;D;B;D	0.57257	0.386;0.979;0.069;0.979	B;P;B;P	0.60345	0.149;0.873;0.026;0.873	T	0.40421	-0.9564	10	0.20046	T	0.44	.	19.8478	0.96722	0.0:1.0:0.0:0.0	.	212;212;54;212	Q9NTK5-3;D7EHM2;Q9NTK5-2;Q9NTK5	.;.;.;OLA1_HUMAN	K	212;54;212;232;54	ENSP00000284719:E212K;ENSP00000340167:E54K;ENSP00000410385:E212K;ENSP00000386350:E232K	ENSP00000284719:E212K	E	-	1	0	OLA1	174696248	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.362000	0.79507	2.685000	0.91497	0.650000	0.86243	GAA	OLA1	-	pirsf_CHP00092,tigrfam_CHP00092		0.289	OLA1-003	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	OLA1	HGNC	protein_coding	OTTHUMT00000333877.1	C	NM_013341		174988002	-1	no_errors	ENST00000284719	ensembl	human	known	70_37	missense	SNP	1.000	T
OR51V1	283111	genome.wustl.edu	37	11	5221348	5221348	+	Missense_Mutation	SNP	G	G	A	rs151191536		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:5221348G>A	ENST00000321255.1	-	1	582	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	195					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGCTAAGCGGAGAAGATCC	0.398																																																	0								G	CYS/ARG	0,4402		0,0,2201	53.0	52.0	52.0		583	-2.7	0.0	11	dbSNP_134	52	1,8593		0,1,4296	no	missense	OR51V1	NM_001004760.2	180	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	195/322	5221348	1,12995	2201	4297	6498	SO:0001583	missense	283111			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.583C>T	11.37:g.5221348G>A	ENSP00000321729:p.Arg195Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R195C	ENST00000321255.1	37	c.583	CCDS31375.1	11	.	.	.	.	.	.	.	.	.	.	G	10.65	1.410233	0.25465	0.0	1.16E-4	ENSG00000176742	ENST00000321255	T	0.38240	1.15	5.27	-2.73	0.05950	GPCR, rhodopsin-like superfamily (1);	0.379029	0.17166	N	0.184450	T	0.62295	0.2416	H	0.94423	3.535	0.09310	N	1	D	0.89917	1.0	D	0.76575	0.988	T	0.54139	-0.8338	10	0.72032	D	0.01	.	8.0072	0.30332	0.1393:0.0:0.2282:0.6325	.	195	Q9H2C8	O51V1_HUMAN	C	195	ENSP00000321729:R195C	ENSP00000321729:R195C	R	-	1	0	OR51V1	5177924	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.168000	0.09925	-0.284000	0.09102	0.655000	0.94253	CGC	OR51V1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.398	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51V1	HGNC	protein_coding	OTTHUMT00000142965.1	G	NM_001004760		5221348	-1	no_errors	ENST00000321255	ensembl	human	known	70_37	missense	SNP	0.000	A
PANX2	56666	genome.wustl.edu	37	22	50615649	50615649	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr22:50615649G>C	ENST00000395842.2	+	2	508	c.508G>C	c.(508-510)Gag>Cag	p.E170Q	PANX2_ENST00000159647.5_Missense_Mutation_p.E170Q	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	170					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCGGGCGGCCGAGGGCCGCGC	0.662																																																	0													18.0	19.0	19.0					22																	50615649		2185	4293	6478	SO:0001583	missense	56666				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.508G>C	22.37:g.50615649G>C	ENSP00000379183:p.Glu170Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	pfam_Innexin,pfscan_Innexin	p.E170Q	ENST00000395842.2	37	c.508	CCDS14085.2	22	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315637	0.81469	.	.	ENSG00000073150	ENST00000159647;ENST00000395842	T;T	0.33865	1.39;1.39	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.51702	0.1690	L	0.38531	1.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	T	0.52449	-0.8574	10	0.51188	T	0.08	-1.2506	18.1383	0.89630	0.0:0.0:1.0:0.0	.	170;170	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	Q	170	ENSP00000159647:E170Q;ENSP00000379183:E170Q	ENSP00000159647:E170Q	E	+	1	0	PANX2	48957776	1.000000	0.71417	0.988000	0.46212	0.938000	0.57974	9.557000	0.98129	2.375000	0.81037	0.555000	0.69702	GAG	PANX2	-	pfam_Innexin,pfscan_Innexin		0.662	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PANX2	HGNC	protein_coding	OTTHUMT00000075010.3	G	NM_052839		50615649	+1	no_errors	ENST00000395842	ensembl	human	known	70_37	missense	SNP	1.000	C
PCBD2	84105	genome.wustl.edu	37	5	134246123	134246123	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:134246123C>G	ENST00000512783.1	+	2	203	c.183C>G	c.(181-183)atC>atG	p.I61M	PCBD2_ENST00000510013.1_3'UTR|PCBD2_ENST00000254908.6_Missense_Mutation_p.I61M			Q9H0N5	PHS2_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2	61					positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|protein homotetramerization (GO:0051289)|tetrahydrobiopterin biosynthetic process (GO:0006729)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	4-alpha-hydroxytetrahydrobiopterin dehydratase activity (GO:0008124)|phenylalanine 4-monooxygenase activity (GO:0004505)			kidney(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGATGCCATCTACAAAGAAT	0.413																																																	0													137.0	135.0	135.0					5																	134246123		1884	4100	5984	SO:0001583	missense	84105			AF499009	CCDS43364.1	5q31.1	2008-02-05	2006-01-10			ENSG00000132570			24474	protein-coding gene	gene with protein product		609836	"""6-pyruvoyl-tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 2"""			15182178, 11980910	Standard	NM_032151		Approved	DCOHM, DCOH2	uc010jdz.3	Q9H0N5		ENST00000512783.1:c.183C>G	5.37:g.134246123C>G	ENSP00000421544:p.Ile61Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TD40	Missense_Mutation	SNP	pfam_Trans/pterin_deHydtase,superfamily_Trans/pterin_deHydtase	p.I61M	ENST00000512783.1	37	c.183	CCDS43364.1	5	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462175	0.43736	.	.	ENSG00000132570	ENST00000254908;ENST00000512783	D;D	0.92752	-3.1;-3.1	5.64	3.6	0.41247	.	0.114021	0.56097	D	0.000027	D	0.96002	0.8698	M	0.91561	3.22	0.48511	D	0.99966	D	0.61080	0.989	D	0.70227	0.968	D	0.95742	0.8784	10	0.72032	D	0.01	-8.5371	9.0371	0.36293	0.2072:0.7137:0.0:0.0791	.	61	Q9H0N5	PHS2_HUMAN	M	61	ENSP00000254908:I61M;ENSP00000421544:I61M	ENSP00000254908:I61M	I	+	3	3	PCBD2	134274022	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	0.754000	0.26390	1.522000	0.49001	0.563000	0.77884	ATC	PCBD2	-	pfam_Trans/pterin_deHydtase,superfamily_Trans/pterin_deHydtase		0.413	PCBD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCBD2	HGNC	protein_coding	OTTHUMT00000371578.1	C	NM_032151		134246123	+1	no_errors	ENST00000254908	ensembl	human	known	70_37	missense	SNP	1.000	G
PCDHB2	56133	genome.wustl.edu	37	5	140476730	140476730	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:140476730G>A	ENST00000194155.4	+	1	2504	c.2356G>A	c.(2356-2358)Gag>Aag	p.E786K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	786					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGGTTAGCGAGGCAAATCC	0.453																																																	0													117.0	123.0	121.0					5																	140476730		2203	4300	6503	SO:0001583	missense	56133			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2356G>A	5.37:g.140476730G>A	ENSP00000194155:p.Glu786Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4KMU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E786K	ENST00000194155.4	37	c.2356	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	G	10.90	1.481511	0.26598	.	.	ENSG00000112852	ENST00000194155	T	0.12569	2.67	4.21	3.32	0.38043	.	.	.	.	.	T	0.11836	0.0288	L	0.45051	1.395	0.09310	N	1	B	0.20887	0.049	B	0.12837	0.008	T	0.10291	-1.0636	9	0.37606	T	0.19	.	7.8683	0.29549	0.0974:0.1667:0.7359:0.0	.	786	Q9Y5E7	PCDB2_HUMAN	K	786	ENSP00000194155:E786K	ENSP00000194155:E786K	E	+	1	0	PCDHB2	140456914	0.031000	0.19500	0.595000	0.28798	0.604000	0.37047	1.983000	0.40648	2.058000	0.61347	0.650000	0.86243	GAG	PCDHB2	-	NULL		0.453	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	HGNC	protein_coding	OTTHUMT00000251801.2	G	NM_018936		140476730	+1	no_errors	ENST00000194155	ensembl	human	known	70_37	missense	SNP	0.011	A
PCDHB7	56129	genome.wustl.edu	37	5	140553826	140553826	+	Silent	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:140553826C>T	ENST00000231137.3	+	1	1584	c.1410C>T	c.(1408-1410)atC>atT	p.I470I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	470	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(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCCCATCGGCAGTGTCA	0.642																																																	0													109.0	109.0	109.0					5																	140553826		2203	4300	6503	SO:0001819	synonymous_variant	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1410C>T	5.37:g.140553826C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3Y8	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I470	ENST00000231137.3	37	c.1410	CCDS4249.1	5																																																																																			PCDHB7	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.642	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	C	NM_018940		140553826	+1	no_errors	ENST00000231137	ensembl	human	known	70_37	silent	SNP	0.044	T
PCDHGB6	56100	genome.wustl.edu	37	5	140788784	140788784	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:140788784G>C	ENST00000520790.1	+	1	1015	c.1015G>C	c.(1015-1017)Gat>Cat	p.D339H	PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	339	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAATCCTTGATGAAAACGA	0.423																																																	0													100.0	100.0	100.0					5																	140788784		1887	4115	6002	SO:0001583	missense	56100			AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.1015G>C	5.37:g.140788784G>C	ENSP00000428603:p.Asp339His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y5C5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D339H	ENST00000520790.1	37	c.1015	CCDS54929.1	5	.	.	.	.	.	.	.	.	.	.	-	19.34	3.808966	0.70797	.	.	ENSG00000253305	ENST00000520790	T	0.67698	-0.28	5.46	5.46	0.80206	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.90521	0.7030	H	0.99516	4.605	0.42950	D	0.994377	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94748	0.7925	9	0.87932	D	0	.	18.9191	0.92518	0.0:0.0:1.0:0.0	.	339;339	Q9Y5F9;Q9Y5F9-2	PCDGI_HUMAN;.	H	339	ENSP00000428603:D339H	ENSP00000428603:D339H	D	+	1	0	PCDHGB6	140768968	1.000000	0.71417	0.931000	0.37212	0.849000	0.48306	9.857000	0.99534	2.561000	0.86390	0.557000	0.71058	GAT	PCDHGB6	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.423	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGB6	HGNC	protein_coding	OTTHUMT00000374746.1	G	NM_018926		140788784	+1	no_errors	ENST00000520790	ensembl	human	known	70_37	missense	SNP	1.000	C
PCNXL3	399909	genome.wustl.edu	37	11	65394439	65394439	+	Silent	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:65394439C>T	ENST00000355703.3	+	21	3983	c.3444C>T	c.(3442-3444)ctC>ctT	p.L1148L		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1148						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGAAGTACCTCATCTACCCCG	0.617																																																	0													58.0	67.0	64.0					11																	65394439		2145	4227	6372	SO:0001819	synonymous_variant	399909			BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3444C>T	11.37:g.65394439C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6MZN8	Silent	SNP	pfam_Pecanex	p.L1148	ENST00000355703.3	37	c.3444	CCDS44650.1	11																																																																																			PCNXL3	-	NULL		0.617	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL3	HGNC	protein_coding	OTTHUMT00000390321.1	C	NM_032223		65394439	+1	no_errors	ENST00000355703	ensembl	human	known	70_37	silent	SNP	1.000	T
PDE5A	8654	genome.wustl.edu	37	4	120440276	120440276	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:120440276C>G	ENST00000354960.3	-	14	2243	c.1924G>C	c.(1924-1926)Gag>Cag	p.E642Q	RP11-33B1.1_ENST00000498873.1_RNA|PDE5A_ENST00000264805.5_Missense_Mutation_p.E600Q|PDE5A_ENST00000394439.1_Missense_Mutation_p.E590Q|PDE5A_ENST00000512739.1_5'Flank	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	642	Catalytic. {ECO:0000250}.			E -> G (in Ref. 4; BAA81667). {ECO:0000305}.	blood coagulation (GO:0007596)|cGMP catabolic process (GO:0046069)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of oocyte development (GO:0060282)|relaxation of cardiac muscle (GO:0055119)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Avanafil(DB06237)|Caffeine(DB00201)|Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Udenafil(DB06267)|Vardenafil(DB00862)	GCAAGTATCTCCAGGTCAGTC	0.413																																																	0													129.0	107.0	115.0					4																	120440276		2203	4300	6503	SO:0001583	missense	8654			D89094	CCDS3713.1, CCDS34055.1	4q27	2008-05-15			ENSG00000138735	ENSG00000138735	3.1.4.17	"""Phosphodiesterases"""	8784	protein-coding gene	gene with protein product		603310				9714779, 9642111	Standard	NM_033437		Approved		uc003idh.3	O76074	OTTHUMG00000132971	ENST00000354960.3:c.1924G>C	4.37:g.120440276C>G	ENSP00000347046:p.Glu642Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV69|A8K2C4|O75026|O75887|Q86UI0|Q86V66|Q9Y6Z6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.E642Q	ENST00000354960.3	37	c.1924	CCDS3713.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.123544	0.94429	.	.	ENSG00000138735	ENST00000354960;ENST00000394439;ENST00000264805	D;D;D	0.84730	-1.89;-1.89;-1.89	5.46	5.46	0.80206	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.93621	0.7963	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.94534	0.7739	10	0.87932	D	0	.	17.5021	0.87734	0.0:1.0:0.0:0.0	.	642;600	O76074;O76074-2	PDE5A_HUMAN;.	Q	642;590;600	ENSP00000347046:E642Q;ENSP00000377957:E590Q;ENSP00000264805:E600Q	ENSP00000264805:E600Q	E	-	1	0	PDE5A	120659724	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.431000	0.80335	2.573000	0.86826	0.655000	0.94253	GAG	PDE5A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase		0.413	PDE5A-001	KNOWN	basic|CCDS	protein_coding	PDE5A	HGNC	protein_coding	OTTHUMT00000256529.1	C	NM_001083		120440276	-1	no_errors	ENST00000354960	ensembl	human	known	70_37	missense	SNP	1.000	G
PHF21A	51317	genome.wustl.edu	37	11	45955550	45955550	+	Missense_Mutation	SNP	G	G	A	rs149898933	byFrequency	TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:45955550G>A	ENST00000418153.2	-	18	2211	c.2012C>T	c.(2011-2013)gCg>gTg	p.A671V	PHF21A_ENST00000257821.4_Missense_Mutation_p.A672V|PHF21A_ENST00000323180.6_Missense_Mutation_p.A625V			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	671	Required for transcriptional repression.			PSPSSQSCTANCNQGEETK -> LCSLPELHSEL (in Ref. 7). {ECO:0000305}.	blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						GTTACAGTTCGCTGTGCAGCT	0.622													G|||	3	0.000599042	0.0015	0.0014	5008	,	,		13950	0.0		0.0	False		,,,				2504	0.0																0								G	VAL/ALA,VAL/ALA	9,4395	15.5+/-35.6	0,9,2193	43.0	46.0	45.0		2012,1874	-2.6	1.0	11	dbSNP_134	45	0,8598		0,0,4299	yes	missense,missense	PHF21A	NM_001101802.1,NM_016621.3	64,64	0,9,6492	AA,AG,GG		0.0,0.2044,0.0692	benign,benign	671/681,625/635	45955550	9,12993	2202	4299	6501	SO:0001583	missense	51317			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.2012C>T	11.37:g.45955550G>A	ENSP00000398824:p.Ala671Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A672V	ENST00000418153.2	37	c.2015	CCDS44578.1	11	.	.	.	.	.	.	.	.	.	.	G	9.672	1.147029	0.21288	0.002044	0.0	ENSG00000135365	ENST00000257821;ENST00000323180;ENST00000418153;ENST00000532028	D;D;D	0.94497	-3.01;-3.44;-3.03	5.63	-2.56	0.06268	.	0.662303	0.14881	N	0.292965	T	0.81735	0.4885	N	0.02011	-0.69	0.28946	N	0.890694	B;B	0.09022	0.002;0.001	B;B	0.06405	0.001;0.002	T	0.70332	-0.4901	10	0.28530	T	0.3	1.5263	11.6969	0.51548	0.6494:0.0:0.3506:0.0	.	671;625	Q96BD5;Q96BD5-2	PF21A_HUMAN;.	V	672;625;671;146	ENSP00000257821:A672V;ENSP00000323152:A625V;ENSP00000398824:A671V	ENSP00000257821:A672V	A	-	2	0	PHF21A	45912126	0.999000	0.42202	0.984000	0.44739	0.941000	0.58515	0.495000	0.22483	-0.348000	0.08286	-1.340000	0.01251	GCG	PHF21A	-	NULL		0.622	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF21A	HGNC	protein_coding	OTTHUMT00000392583.1	G	NM_016621		45955550	-1	no_errors	ENST00000257821	ensembl	human	known	70_37	missense	SNP	0.945	A
PIGX	54965	genome.wustl.edu	37	3	196449344	196449344	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:196449344C>G	ENST00000421265.1	+	3	165	c.112C>G	c.(112-114)Ctc>Gtc	p.L38V	PIGX_ENST00000495440.1_3'UTR|PIGX_ENST00000541663.1_5'UTR|PIGX_ENST00000314118.4_Missense_Mutation_p.L38V			Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	79					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)		p.L38I(1)		endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		CACCTGCCGTCTCTTAATTAA	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)											171.0	173.0	172.0					3																	196449344		2203	4300	6503	SO:0001583	missense	54965			AK000529	CCDS3320.1, CCDS3320.2, CCDS54701.1	3q29	2013-02-26	2006-06-28		ENSG00000163964	ENSG00000163964		"""Phosphatidylinositol glycan anchor biosynthesis"""	26046	protein-coding gene	gene with protein product		610276	"""phosphatidylinositol glycan, class X"""			15635094	Standard	NM_017861		Approved	FLJ20522	uc010iaj.3	Q8TBF5	OTTHUMG00000155535	ENST00000421265.1:c.112C>G	3.37:g.196449344C>G	ENSP00000416446:p.Leu38Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NWZ2	Missense_Mutation	SNP	pfam_PIG-X/PBN1,smart_PIG-X/PBN1	p.L79V	ENST00000421265.1	37	c.235		3	.	.	.	.	.	.	.	.	.	.	C	4.774	0.143926	0.09134	.	.	ENSG00000163964	ENST00000426755;ENST00000392391;ENST00000314118;ENST00000296333;ENST00000421265;ENST00000451319	T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32	6.05	5.16	0.70880	.	0.149777	0.44097	D	0.000491	T	0.21227	0.0511	N	0.17278	0.47	0.80722	D	1	B;B	0.16396	0.017;0.002	B;B	0.16289	0.015;0.011	T	0.07271	-1.0781	10	0.12430	T	0.62	-11.7553	12.2837	0.54779	0.0:0.7415:0.2585:0.0	.	79;79	Q8TBF5-2;Q8TBF5	.;PIGX_HUMAN	V	38;79;38;79;38;38	ENSP00000409073:L38V;ENSP00000376192:L79V;ENSP00000317301:L38V;ENSP00000296333:L79V;ENSP00000416446:L38V;ENSP00000390804:L38V	ENSP00000296333:L79V	L	+	1	0	PIGX	197933741	0.999000	0.42202	1.000000	0.80357	0.791000	0.44710	1.432000	0.34936	2.880000	0.98712	0.655000	0.94253	CTC	PIGX	-	pfam_PIG-X/PBN1,smart_PIG-X/PBN1		0.398	PIGX-008	PUTATIVE	basic	protein_coding	PIGX	HGNC	protein_coding	OTTHUMT00000340684.1	C	NM_017861		196449344	+1	no_errors	ENST00000296333	ensembl	human	known	70_37	missense	SNP	1.000	G
PILRB	29990	genome.wustl.edu	37	7	99956689	99956689	+	Silent	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:99956689C>G	ENST00000452089.1	+	7	1500	c.441C>G	c.(439-441)ctC>ctG	p.L147L	STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000609309.1_Silent_p.L147L|PILRB_ENST00000610247.1_Silent_p.L147L|PILRB_ENST00000444073.1_Silent_p.L147L|PILRB_ENST00000448382.1_Missense_Mutation_p.H200D			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	147					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)				endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGACCAAACTCACCATCACCC	0.572																																																	0													55.0	55.0	55.0					7																	99956689		2203	4300	6503	SO:0001819	synonymous_variant	29990			AF161081, AJ400845	CCDS43622.1	7q22.1	2014-05-16			ENSG00000121716	ENSG00000121716		"""Immunoglobulin superfamily / V-set domain containing"""	18297	protein-coding gene	gene with protein product		605342				10660620	Standard	NM_178238		Approved	FDFACT1, FDFACT2	uc022ail.1	Q9UKJ0	OTTHUMG00000155363	ENST00000452089.1:c.441C>G	7.37:g.99956689C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YF9|Q9HBS0	Missense_Mutation	SNP	NULL	p.H200D	ENST00000452089.1	37	c.598	CCDS43622.1	7	.	.	.	.	.	.	.	.	.	.	C	4.898	0.166818	0.09339	.	.	ENSG00000121716	ENST00000444874;ENST00000448382	.	.	.	2.5	1.54	0.23209	.	.	.	.	.	T	0.28101	0.0693	.	.	.	0.09310	N	0.999991	B	0.24768	0.111	B	0.28849	0.095	T	0.27806	-1.0063	6	.	.	.	.	7.4213	0.27073	0.0:0.7271:0.2729:0.0	.	78	Q9UKJ0-2	.	D	78;200	.	.	H	+	1	0	PILRB	99794625	0.234000	0.23783	0.010000	0.14722	0.011000	0.07611	1.387000	0.34430	0.289000	0.22422	0.603000	0.83216	CAC	PILRB	-	NULL		0.572	PILRB-008	KNOWN	basic|appris_principal|CCDS	protein_coding	PILRB	HGNC	protein_coding	OTTHUMT00000339923.2	C	NM_178238		99956689	+1	no_errors	ENST00000448382	ensembl	human	known	70_37	missense	SNP	0.091	G
PIPSL	266971	genome.wustl.edu	37	10	95719906	95719906	+	RNA	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:95719906G>C	ENST00000480546.1	-	0	1391					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										CTCGCTGAGAGAAAGATGAGC	0.498																																																	0																																												266971			BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95719906G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NUK8	RNA	SNP	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			PIPSL	-	-		0.498	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	HGNC	pseudogene	OTTHUMT00000351483.1	G	NR_002319		95719906	-1	no_errors	ENST00000480546	ensembl	human	putative	70_37	rna	SNP	0.997	C
POLR3A	11128	genome.wustl.edu	37	10	79773485	79773485	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:79773485C>T	ENST00000372371.3	-	11	1632	c.1495G>A	c.(1495-1497)Gac>Aac	p.D499N	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	499					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|ribonucleoside binding (GO:0032549)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CCATCAAAGTCAGCATTATAG	0.478																																																	0													143.0	128.0	133.0					10																	79773485		2203	4300	6503	SO:0001583	missense	11128			AF021351	CCDS7354.1	10q22-q23	2013-01-21			ENSG00000148606	ENSG00000148606		"""RNA polymerase subunits"""	30074	protein-coding gene	gene with protein product		614258				9331371, 12391170	Standard	NM_007055		Approved	RPC1, RPC155, hRPC155	uc001jzn.3	O14802	OTTHUMG00000018550	ENST00000372371.3:c.1495G>A	10.37:g.79773485C>T	ENSP00000361446:p.Asp499Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IW34|Q8TCW5	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N	p.D499N	ENST00000372371.3	37	c.1495	CCDS7354.1	10	.	.	.	.	.	.	.	.	.	.	C	36	5.688314	0.96784	.	.	ENSG00000148606	ENST00000372371;ENST00000540842	D	0.98649	-5.05	5.69	5.69	0.88448	RNA polymerase, alpha subunit (1);RNA polymerase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99622	0.9862	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.69654	0.965	D	0.97406	0.9999	9	.	.	.	-33.7233	19.8056	0.96531	0.0:1.0:0.0:0.0	.	499	O14802	RPC1_HUMAN	N	499	ENSP00000361446:D499N	.	D	-	1	0	POLR3A	79443491	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.416000	0.80143	2.688000	0.91661	0.650000	0.86243	GAC	POLR3A	-	pfam_RNA_pol_asu,smart_RNA_pol_N		0.478	POLR3A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3A	HGNC	protein_coding	OTTHUMT00000048923.1	C	NM_007055		79773485	-1	no_errors	ENST00000372371	ensembl	human	known	70_37	missense	SNP	1.000	T
PKD2L1	9033	genome.wustl.edu	37	10	102057141	102057141	+	Silent	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:102057141C>G	ENST00000318222.3	-	5	1336	c.954G>C	c.(952-954)ctG>ctC	p.L318L	PKD2L1_ENST00000353274.3_Silent_p.L318L|PKD2L1_ENST00000338519.3_Intron	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	318					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GGGCTCACCTCAGGACACAGA	0.557																																																	0													77.0	81.0	79.0					10																	102057141		2203	4300	6503	SO:0001819	synonymous_variant	9033			AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.954G>C	10.37:g.102057141C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O75972|Q5W039|Q9UP35|Q9UPA2	Silent	SNP	pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1	p.L318	ENST00000318222.3	37	c.954	CCDS7492.1	10																																																																																			PKD2L1	-	pfam_PKD1_2_channel,prints_PKD_2		0.557	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKD2L1	HGNC	protein_coding	OTTHUMT00000049863.2	C	NM_016112		102057141	-1	no_errors	ENST00000318222	ensembl	human	known	70_37	silent	SNP	1.000	G
PRAMEF3	401940	genome.wustl.edu	37	1	13330569	13330569	+	Silent	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:13330569G>A	ENST00000353410.5	-	2	737	c.711C>T	c.(709-711)ctC>ctT	p.L237L	PRAMEF3_ENST00000376173.3_Silent_p.L239L			Q5TYW8	PRAM3_HUMAN	PRAME family member 3	237					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					ovary(1)	1	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGGAGATGAAGAGTTTGCGAA	0.478																																																	0													59.0	43.0	50.0					1																	13330569		1332	1451	2783	SO:0001819	synonymous_variant	401940					1p36.21	2013-01-17			ENSG00000204503			"""-"""	14087	protein-coding gene	gene with protein product							Standard			Approved		uc001aut.1	Q5TYW8	OTTHUMG00000009404	ENST00000353410.5:c.711C>T	1.37:g.13330569G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L239	ENST00000353410.5	37	c.717		1																																																																																			PRAMEF3	-	NULL		0.478	PRAMEF3-001	KNOWN	basic|appris_candidate	protein_coding	PRAMEF3	HGNC	protein_coding	OTTHUMT00000026088.1	G	NM_001013692		13330569	-1	no_errors	ENST00000376173	ensembl	human	known	70_37	silent	SNP	0.014	A
PRG2	5553	genome.wustl.edu	37	11	57156581	57156581	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:57156581G>A	ENST00000311862.5	-	3	341	c.268C>T	c.(268-270)Cct>Tct	p.P90S	PRG2_ENST00000533605.1_Missense_Mutation_p.P90S|RP11-872D17.8_ENST00000529411.1_Missense_Mutation_p.P195S|PRG2_ENST00000525955.1_Missense_Mutation_p.P90S	NM_001243245.1|NM_002728.4	NP_001230174.1|NP_002719.3	P13727	PRG2_HUMAN	proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein)	90					defense response to bacterium (GO:0042742)|defense response to nematode (GO:0002215)|immune response (GO:0006955)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of interleukin-4 production (GO:0032753)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)	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)	Sargramostim(DB00020)	TCTTCCTCAGGACACGTAAGG	0.527																																																	0													144.0	131.0	136.0					11																	57156581		2201	4296	6497	SO:0001583	missense	5553			BC005929	CCDS7955.1, CCDS58133.1	11q12	2005-11-25				ENSG00000186652			9362	protein-coding gene	gene with protein product		605601				1565101	Standard	NM_001243245		Approved	MBP, BMPG		P13727		ENST00000311862.5:c.268C>T	11.37:g.57156581G>A	ENSP00000312134:p.Pro90Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6XMW0|B2R5I1|P81448|Q14227|Q6ICT2	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic	p.P90S	ENST00000311862.5	37	c.268	CCDS7955.1	11	.	.	.	.	.	.	.	.	.	.	G	18.29	3.592442	0.66219	.	.	ENSG00000186652;ENSG00000186652;ENSG00000186652;ENSG00000254979	ENST00000311862;ENST00000533605;ENST00000525955;ENST00000529411	T;T;T;D	0.84070	1.03;2.69;1.03;-1.8	5.34	4.43	0.53597	C-type lectin (1);	0.000000	0.48286	D	0.000187	D	0.88415	0.6430	M	0.73598	2.24	0.09310	N	1	D;D	0.71674	0.991;0.998	P;P	0.62740	0.879;0.906	T	0.81035	-0.1115	10	0.62326	D	0.03	.	10.0477	0.42197	0.0937:0.0:0.9063:0.0	.	90;90	A6XMW0;P13727	.;PRG2_HUMAN	S	90;90;90;195	ENSP00000312134:P90S;ENSP00000433231:P90S;ENSP00000433016:P90S;ENSP00000431536:P195S	ENSP00000312134:P90S	P	-	1	0	RP11-872D17.8;PRG2	56913157	0.849000	0.29639	0.037000	0.18230	0.153000	0.21895	2.348000	0.44045	1.245000	0.43885	0.561000	0.74099	CCT	PRG2	-	smart_C-type_lectin,prints_Eosinophil_major_basic		0.527	PRG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRG2	HGNC	protein_coding	OTTHUMT00000392468.1	G	NM_002728		57156581	-1	no_errors	ENST00000311862	ensembl	human	known	70_37	missense	SNP	0.204	A
PRDX5	25824	genome.wustl.edu	37	11	64089124	64089124	+	Silent	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:64089124C>T	ENST00000265462.4	+	6	734	c.606C>T	c.(604-606)ctC>ctT	p.L202L	PRDX5_ENST00000347941.4_Silent_p.L113L|PRDX5_ENST00000352435.4_Silent_p.L158L	NM_012094.4	NP_036226	P30044	PRDX5_HUMAN	peroxiredoxin 5	202	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cellular response to reactive oxygen species (GO:0034614)|hydrogen peroxide catabolic process (GO:0042744)|inflammatory response (GO:0006954)|NADPH oxidation (GO:0070995)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|positive regulation of collagen biosynthetic process (GO:0032967)|reactive nitrogen species metabolic process (GO:2001057)|regulation of apoptosis involved in tissue homeostasis (GO:0060785)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	antioxidant activity (GO:0016209)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|peroxidase activity (GO:0004601)|peroxiredoxin activity (GO:0051920)|peroxynitrite reductase activity (GO:0072541)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase III regulatory region DNA binding (GO:0001016)			breast(1)|kidney(1)|lung(1)|skin(1)	4					Auranofin(DB00995)	gcacaggcctcacctgcagcc	0.602																																																	0													51.0	40.0	44.0					11																	64089124		2201	4296	6497	SO:0001819	synonymous_variant	25824			AF197952	CCDS8069.1, CCDS8070.1, CCDS8071.1	11q13	2008-07-21			ENSG00000126432	ENSG00000126432			9355	protein-coding gene	gene with protein product	"""antioxidant enzyme B166"", ""thioredoxin peroxidase PMP20"", ""peroxisomal antioxidant enzyme"", ""TPx type VI"", ""liver tissue 2D-page spot 71B"", ""Alu co-repressor 1"""	606583				10514471, 10521424	Standard	NM_012094		Approved	ACR1, AOEB166, MGC142285, PRXV, PMP20, B166, PRDX6, PLP, SBBI10, MGC117264, MGC142283	uc001nzu.3	P30044	OTTHUMG00000168805	ENST00000265462.4:c.606C>T	11.37:g.64089124C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC19|A6NG06|B7ZLJ4|B7ZVW3|Q14CK0|Q6IAF2|Q9UBU5|Q9UJU4|Q9UKX4	Silent	SNP	pfam_Redoxin,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold	p.L202	ENST00000265462.4	37	c.606	CCDS8069.1	11																																																																																			PRDX5	-	superfamily_Thioredoxin-like_fold		0.602	PRDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDX5	HGNC	protein_coding	OTTHUMT00000401148.1	C	NM_181651		64089124	+1	no_errors	ENST00000265462	ensembl	human	known	70_37	silent	SNP	1.000	T
PRKG2	5593	genome.wustl.edu	37	4	82027008	82027008	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:82027008C>G	ENST00000395578.1	-	16	2138	c.2022G>C	c.(2020-2022)aaG>aaC	p.K674N	PRKG2_ENST00000418486.2_Missense_Mutation_p.K645N|PRKG2_ENST00000264399.1_Missense_Mutation_p.K674N|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000545647.1_Missense_Mutation_p.K254N			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	674	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood coagulation (GO:0007596)|circadian regulation of gene expression (GO:0032922)|nitric oxide metabolic process (GO:0046209)|protein phosphorylation (GO:0006468)|regulation of nitric-oxide synthase activity (GO:0050999)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cGMP binding (GO:0030553)|cGMP-dependent protein kinase activity (GO:0004692)|protein kinase activity (GO:0004672)			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						GTCGTGTTATCTTCCTGGGAA	0.428																																																	0													133.0	127.0	129.0					4																	82027008		2203	4300	6503	SO:0001583	missense	5593			X94612	CCDS3589.1, CCDS75150.1	4q13.1-q21.1	2009-07-10			ENSG00000138669	ENSG00000138669	2.7.11.1		9416	protein-coding gene	gene with protein product		601591				7498513	Standard	XM_005263126		Approved	cGKII, PRKGR2	uc003hmh.2	Q13237	OTTHUMG00000130296	ENST00000395578.1:c.2022G>C	4.37:g.82027008C>G	ENSP00000378945:p.Lys674Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DMX3|E7EPE6|O00125|O60916	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin	p.K674N	ENST00000395578.1	37	c.2022	CCDS3589.1	4	.	.	.	.	.	.	.	.	.	.	c	9.661	1.144243	0.21205	.	.	ENSG00000138669	ENST00000395578;ENST00000264399;ENST00000418486;ENST00000545647	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.41	0.498	0.16908	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.175610	0.64402	D	0.000011	T	0.41834	0.1176	N	0.17674	0.51	0.44745	D	0.997745	B;B	0.09022	0.0;0.002	B;B	0.12837	0.005;0.008	T	0.05022	-1.0911	10	0.21014	T	0.42	-25.3915	3.872	0.09041	0.2646:0.2951:0.0:0.4404	.	645;674	E7EPE6;Q13237	.;KGP2_HUMAN	N	674;674;645;254	ENSP00000378945:K674N;ENSP00000264399:K674N;ENSP00000389038:K645N;ENSP00000439967:K254N	ENSP00000264399:K674N	K	-	3	2	PRKG2	82246032	0.603000	0.26924	0.998000	0.56505	0.935000	0.57460	-0.159000	0.10056	0.033000	0.15463	0.491000	0.48974	AAG	PRKG2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_cat_dom		0.428	PRKG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKG2	HGNC	protein_coding	OTTHUMT00000252639.1	C	NM_006259		82027008	-1	no_errors	ENST00000264399	ensembl	human	known	70_37	missense	SNP	0.973	G
PTPRJ	5795	genome.wustl.edu	37	11	48186061	48186061	+	Silent	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:48186061G>A	ENST00000418331.2	+	24	4201	c.3849G>A	c.(3847-3849)caG>caA	p.Q1283Q		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	1283	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TAATGGTGCAGACAGAGGTGA	0.428																																																	0													206.0	178.0	187.0					11																	48186061		2201	4298	6499	SO:0001819	synonymous_variant	5795			U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.3849G>A	11.37:g.48186061G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.Q1283	ENST00000418331.2	37	c.3849	CCDS7945.1	11																																																																																			PTPRJ	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.428	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	HGNC	protein_coding	OTTHUMT00000390525.1	G			48186061	+1	no_errors	ENST00000418331	ensembl	human	known	70_37	silent	SNP	1.000	A
RAB11FIP2	22841	genome.wustl.edu	37	10	119793517	119793517	+	Intron	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:119793517C>T	ENST00000355624.3	-	3	1705				RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.R434K|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)						establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		caaagatcctctccattcagc	0.493																																																	0																																										SO:0001627	intron_variant	22841			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.1265+4965G>A	10.37:g.119793517C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEI4|Q3I768|Q9Y2F0	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.R434K	ENST00000355624.3	37	c.1301	CCDS7602.1	10	.	.	.	.	.	.	.	.	.	.	C	0.415	-0.911283	0.02434	.	.	ENSG00000107560	ENST00000369199	T	0.63580	-0.05	3.95	1.12	0.20585	.	2.115970	0.02049	N	0.049874	T	0.57681	0.2070	.	.	.	0.09310	N	1	P	0.38711	0.643	P	0.54210	0.745	T	0.54437	-0.8294	9	0.02654	T	1	-5.0E-4	5.9008	0.18965	0.0:0.6663:0.0:0.3336	.	434	Q3I768	.	K	434	ENSP00000358200:R434K	ENSP00000358200:R434K	R	-	2	0	RAB11FIP2	119783507	0.000000	0.05858	0.002000	0.10522	0.296000	0.27459	-0.843000	0.04350	0.261000	0.21753	0.655000	0.94253	AGA	RAB11FIP2	-	NULL		0.493	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP2	HGNC	protein_coding	OTTHUMT00000050583.1	C	NM_014904		119793517	-1	no_errors	ENST00000369199	ensembl	human	known	70_37	missense	SNP	0.003	T
RALBP1	10928	genome.wustl.edu	37	18	9533746	9533746	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr18:9533746G>T	ENST00000019317.4	+	9	1846	c.1623G>T	c.(1621-1623)gaG>gaT	p.E541D	RALBP1_ENST00000383432.3_Missense_Mutation_p.E541D			Q15311	RBP1_HUMAN	ralA binding protein 1	541					ATP catabolic process (GO:0006200)|chemotaxis (GO:0006935)|positive regulation of Cdc42 GTPase activity (GO:0043089)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|transport (GO:0006810)	cytosol (GO:0005829)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ATPase activity, coupled to movement of substances (GO:0043492)|GTPase activator activity (GO:0005096)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)	p.E541D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14					Carbamazepine(DB00564)|Doxorubicin(DB00997)|Sorafenib(DB00398)|Vincristine(DB00541)	ACTCCTCCGAGAGCGAGAGCG	0.537																																																	1	Substitution - Missense(1)	lung(1)											87.0	85.0	86.0					18																	9533746		2203	4300	6503	SO:0001583	missense	10928			L42542	CCDS11845.1	18p11.22	2006-04-22			ENSG00000017797	ENSG00000017797			9841	protein-coding gene	gene with protein product		605801				7673236	Standard	NM_006788		Approved	RLIP76, RIP1, RIP	uc002koc.3	Q15311	OTTHUMG00000131596	ENST00000019317.4:c.1623G>T	18.37:g.9533746G>T	ENSP00000019317:p.Glu541Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUI0	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E541D	ENST00000019317.4	37	c.1623	CCDS11845.1	18	.	.	.	.	.	.	.	.	.	.	G	7.068	0.567829	0.13560	.	.	ENSG00000017797	ENST00000019317;ENST00000383432	T;T	0.09255	3.0;3.0	5.11	-5.84	0.02318	.	0.338661	0.33980	N	0.004369	T	0.02848	0.0085	N	0.02539	-0.55	0.35511	D	0.800658	B	0.02656	0.0	B	0.01281	0.0	T	0.46303	-0.9201	10	0.10111	T	0.7	-7.497	11.5178	0.50532	0.1719:0.5435:0.2846:0.0	.	541	Q15311	RBP1_HUMAN	D	541	ENSP00000019317:E541D;ENSP00000372924:E541D	ENSP00000019317:E541D	E	+	3	2	RALBP1	9523746	0.960000	0.32886	0.004000	0.12327	0.754000	0.42855	0.095000	0.15127	-1.628000	0.01548	0.555000	0.69702	GAG	RALBP1	-	NULL		0.537	RALBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALBP1	HGNC	protein_coding	OTTHUMT00000254479.1	G	NM_006788		9533746	+1	no_errors	ENST00000019317	ensembl	human	known	70_37	missense	SNP	0.990	T
RAPGEF3	10411	genome.wustl.edu	37	12	48134546	48134546	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:48134546G>T	ENST00000449771.2	-	21	2198	c.2110C>A	c.(2110-2112)Ctg>Atg	p.L704M	RAPGEF3_ENST00000389212.3_Missense_Mutation_p.L704M|RAPGEF3_ENST00000171000.4_Missense_Mutation_p.L662M|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.L613M|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.L662M|RAPGEF3_ENST00000405493.2_Missense_Mutation_p.L662M|RP1-197B17.3_ENST00000547799.1_lincRNA			O95398	RPGF3_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	704	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cAMP-mediated signaling (GO:0019933)|cell proliferation (GO:0008283)|cellular response to cAMP (GO:0071320)|energy reserve metabolic process (GO:0006112)|establishment of endothelial barrier (GO:0061028)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP catabolic process (GO:0030822)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of stress fiber assembly (GO:0051496)|Rap protein signal transduction (GO:0032486)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AAGCGCTCCAGGTTGGCGGTG	0.667																																																	0													46.0	53.0	50.0					12																	48134546		2203	4300	6503	SO:0001583	missense	10411			AK092448	CCDS31784.1, CCDS41775.1	12q13.1	2006-04-12	2004-03-26		ENSG00000079337	ENSG00000079337			16629	protein-coding gene	gene with protein product	"""exchange protein directly activated by cAMP 1"""	606057	"""RAP guanine-nucleotide-exchange factor (GEF) 3"""			10777494, 9856955	Standard	NM_001098531		Approved	cAMP-GEFI, EPAC, bcm910	uc001rpz.4	O95398	OTTHUMG00000133667	ENST00000449771.2:c.2110C>A	12.37:g.48134546G>T	ENSP00000395708:p.Leu704Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2G5|E7EQC8|O95634|Q8WVN0	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_DEP_dom,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin	p.L704M	ENST00000449771.2	37	c.2110	CCDS41775.1	12	.	.	.	.	.	.	.	.	.	.	G	18.72	3.685224	0.68157	.	.	ENSG00000079337	ENST00000405493;ENST00000449771;ENST00000541821;ENST00000549151;ENST00000171000;ENST00000389211;ENST00000389212;ENST00000397089;ENST00000548919	T;T;T;T;T;T	0.41758	0.99;0.99;0.99;0.99;0.99;0.99	3.82	2.85	0.33270	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.64402	D	0.000017	T	0.70107	0.3186	H	0.94264	3.515	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.74200	-0.3742	10	0.87932	D	0	.	9.4839	0.38917	0.1168:0.0:0.8832:0.0	.	704	O95398	RPGF3_HUMAN	M	662;704;351;662;662;662;704;667;613	ENSP00000384521:L662M;ENSP00000395708:L704M;ENSP00000448619:L662M;ENSP00000171000:L662M;ENSP00000373864:L704M;ENSP00000448480:L613M	ENSP00000171000:L662M	L	-	1	2	RAPGEF3	46420813	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.706000	0.54830	0.646000	0.30693	-0.367000	0.07326	CTG	RAPGEF3	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.667	RAPGEF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF3	HGNC	protein_coding	OTTHUMT00000257848.1	G	NM_006105		48134546	-1	no_errors	ENST00000389212	ensembl	human	known	70_37	missense	SNP	1.000	T
RASD1	51655	genome.wustl.edu	37	17	17399493	17399493	+	Start_Codon_SNP	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:17399493C>G	ENST00000225688.3	-	1	214	c.3G>C	c.(1-3)atG>atC	p.M1I	RASD1_ENST00000579152.1_Start_Codon_SNP_p.M1I	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	1					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of transcription, DNA-templated (GO:0045892)|nitric oxide mediated signal transduction (GO:0007263)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CGGCCAGTTTCATTGGGCAGA	0.677																																																	0													21.0	21.0	21.0					17																	17399493		2200	4299	6499	SO:0001582	initiator_codon_variant	51655			AF069506	CCDS11185.1, CCDS58519.1	17p11.2	2014-05-09			ENSG00000108551	ENSG00000108551			15828	protein-coding gene	gene with protein product	"""ras-related protein"", ""dexamethasone-induced ras-related protein 1"", ""activator of G protein signaling"""	605550				10947988	Standard	NM_001199989		Approved	DEXRAS1, AGS1	uc002gri.3	Q9Y272	OTTHUMG00000059292	ENST00000225688.3:c.3G>C	17.37:g.17399493C>G	ENSP00000225688:p.Met1Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R709|B4DFF4|Q9NYB4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.M1I	ENST00000225688.3	37	c.3	CCDS11185.1	17	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418529	0.42918	.	.	ENSG00000108551	ENST00000225688	T	0.71698	-0.59	4.72	4.72	0.59763	.	0.180655	0.46145	D	0.000316	T	0.65037	0.2653	.	.	.	0.40023	D	0.97543	B	0.20671	0.047	B	0.20767	0.031	T	0.64011	-0.6507	9	0.44086	T	0.13	.	16.665	0.85250	0.0:1.0:0.0:0.0	.	1	Q9Y272	RASD1_HUMAN	I	1	ENSP00000225688:M1I	ENSP00000225688:M1I	M	-	3	0	RASD1	17340218	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	4.791000	0.62460	2.151000	0.67156	0.591000	0.81541	ATG	RASD1	-	NULL		0.677	RASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASD1	HGNC	protein_coding	OTTHUMT00000131668.1	C	NM_016084	Missense_Mutation	17399493	-1	no_errors	ENST00000225688	ensembl	human	known	70_37	missense	SNP	1.000	G
RGL2	5863	genome.wustl.edu	37	6	33261017	33261017	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:33261017G>C	ENST00000497454.1	-	16	2278	c.1783C>G	c.(1783-1785)Cca>Gca	p.P595A	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	595					positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						GGGTCAGCTGGACTGTGCAGG	0.617																																																	0													92.0	89.0	90.0					6																	33261017		2203	4300	6503	SO:0001583	missense	5863				CCDS4774.1	6p21.3	2010-02-17	2004-06-11	2004-06-16	ENSG00000237441	ENSG00000237441			9769	protein-coding gene	gene with protein product		602306	"""RAB2, member RAS oncogene family-like"""	RAB2L		8976381	Standard	NM_001243738		Approved	KE1.5, HKE1.5	uc003odv.3	O15211	OTTHUMG00000031072	ENST00000497454.1:c.1783C>G	6.37:g.33261017G>C	ENSP00000420211:p.Pro595Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG72|Q5STK0|Q9Y3F3	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.P595A	ENST00000497454.1	37	c.1783	CCDS4774.1	6	.	.	.	.	.	.	.	.	.	.	G	5.107	0.205430	0.09704	.	.	ENSG00000237441	ENST00000497454;ENST00000421215	T	0.10382	2.88	4.5	2.72	0.32119	.	0.424167	0.21465	N	0.074086	T	0.03827	0.0108	L	0.56769	1.78	0.24589	N	0.993836	B	0.02656	0.0	B	0.04013	0.001	T	0.34551	-0.9824	10	0.56958	D	0.05	.	6.2887	0.21047	0.1005:0.1856:0.7139:0.0	.	595	O15211	RGL2_HUMAN	A	595;459	ENSP00000420211:P595A	ENSP00000400083:P459A	P	-	1	0	RGL2	33368995	0.992000	0.36948	0.100000	0.21137	0.881000	0.50899	1.202000	0.32271	0.529000	0.28599	-0.931000	0.02705	CCA	RGL2	-	NULL		0.617	RGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGL2	HGNC	protein_coding	OTTHUMT00000076098.2	G			33261017	-1	no_errors	ENST00000497454	ensembl	human	known	70_37	missense	SNP	0.035	C
RNASE8	122665	genome.wustl.edu	37	14	21526193	21526193	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr14:21526193C>G	ENST00000308227.2	+	1	213	c.142C>G	c.(142-144)Caa>Gaa	p.Q48E	NDRG2_ENST00000403829.3_Intron	NM_138331.1	NP_612204.1	Q8TDE3	RNAS8_HUMAN	ribonuclease, RNase A family, 8	48					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)		GCCCAGCCCTCAAGCATGCAA	0.537																																																	0													211.0	158.0	176.0					14																	21526193		2203	4300	6503	SO:0001583	missense	122665			AF473854	CCDS9567.1	14q11.1	2003-03-13			ENSG00000173431	ENSG00000173431		"""Ribonucleases, RNase A"""	19277	protein-coding gene	gene with protein product		612485				11861908	Standard	NM_138331		Approved		uc010tlm.2	Q8TDE3	OTTHUMG00000029645	ENST00000308227.2:c.142C>G	14.37:g.21526193C>G	ENSP00000311398:p.Gln48Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPP6|B2RPP7	Missense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.Q48E	ENST00000308227.2	37	c.142	CCDS9567.1	14	.	.	.	.	.	.	.	.	.	.	C	0.038	-1.298998	0.01364	.	.	ENSG00000173431	ENST00000308227	T	0.72835	-0.69	4.63	1.62	0.23740	Ribonuclease A, domain (4);	1.070420	0.07234	N	0.863046	T	0.62720	0.2451	L	0.52905	1.665	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.44711	-0.9310	10	0.02654	T	1	-0.6449	12.4557	0.55702	0.0:0.4981:0.5019:0.0	.	48	Q8TDE3	RNAS8_HUMAN	E	48	ENSP00000311398:Q48E	ENSP00000311398:Q48E	Q	+	1	0	RNASE8	20596033	0.000000	0.05858	0.003000	0.11579	0.156000	0.22039	0.053000	0.14184	0.221000	0.20879	-0.122000	0.15005	CAA	RNASE8	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain		0.537	RNASE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE8	HGNC	protein_coding	OTTHUMT00000073925.3	C	NM_138331		21526193	+1	no_errors	ENST00000308227	ensembl	human	known	70_37	missense	SNP	0.001	G
RNF114	55905	genome.wustl.edu	37	20	48553058	48553058	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr20:48553058G>C	ENST00000244061.2	+	1	111	c.109G>C	c.(109-111)Gag>Cag	p.E37Q		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	37					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						AGAGGTGTACGAGAAGCCGGT	0.692																																																	0													9.0	10.0	10.0					20																	48553058		2166	4235	6401	SO:0001583	missense	55905			AF265215	CCDS33482.1	20q13	2013-01-09	2008-06-16	2008-06-16	ENSG00000124226	ENSG00000124226		"""RING-type (C3HC4) zinc fingers"""	13094	protein-coding gene	gene with protein product		612451	"""zinc finger protein 313"""	ZNF313		18364390	Standard	NM_018683		Approved	PSORS12	uc002xux.3	Q9Y508	OTTHUMG00000032709	ENST00000244061.2:c.109G>C	20.37:g.48553058G>C	ENSP00000244061:p.Glu37Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDQ9|B4DWY5|E1P627|Q6N0B0	Missense_Mutation	SNP	pfam_Di19_RING_finger_144,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.E37Q	ENST00000244061.2	37	c.109	CCDS33482.1	20	.	.	.	.	.	.	.	.	.	.	G	20.4	3.986425	0.74589	.	.	ENSG00000124226	ENST00000449816;ENST00000244061	D	0.87103	-2.21	4.65	2.69	0.31865	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.175990	0.50627	D	0.000120	T	0.81814	0.4902	N	0.16201	0.385	0.39570	D	0.969268	P;D	0.54601	0.507;0.967	B;P	0.54815	0.345;0.761	T	0.78196	-0.2298	10	0.27082	T	0.32	-9.2903	10.3285	0.43807	0.166:0.0:0.834:0.0	.	37;37	Q9Y508-2;Q9Y508	.;RN114_HUMAN	Q	37	ENSP00000244061:E37Q	ENSP00000244061:E37Q	E	+	1	0	RNF114	47986465	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.178000	0.65037	0.683000	0.31428	-0.266000	0.10368	GAG	RNF114	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.692	RNF114-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	RNF114	HGNC	protein_coding	OTTHUMT00000079663.1	G	NM_018683		48553058	+1	no_errors	ENST00000244061	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF130	55819	genome.wustl.edu	37	5	179440305	179440305	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:179440305C>G	ENST00000261947.4	-	3	847	c.449G>C	c.(448-450)gGa>gCa	p.G150A	RNF130_ENST00000522208.2_Missense_Mutation_p.G150A|MIR340_ENST00000362125.1_RNA|RNF130_ENST00000521389.1_Missense_Mutation_p.G150A	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AATAATATCTCCAGTGCCTGC	0.318																																					GBM(24;432 554 38471 39699 51728)												0													41.0	39.0	40.0					5																	179440305		2203	4300	6503	SO:0001583	missense	55819			AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.449G>C	5.37:g.179440305C>G	ENSP00000261947:p.Gly150Ala	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.G150A	ENST00000261947.4	37	c.449		5	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585748	0.86748	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.61274	0.12;0.12;0.12	5.79	5.79	0.91817	Protease-associated domain, PA (1);	0.000000	0.85682	D	0.000000	T	0.69886	0.3161	L	0.52266	1.64	0.80722	D	1	P;P	0.49696	0.927;0.771	P;P	0.58620	0.842;0.574	T	0.67321	-0.5700	10	0.46703	T	0.11	.	20.0294	0.97532	0.0:1.0:0.0:0.0	.	167;150	Q59EL1;Q86XS8	.;GOLI_HUMAN	A	150	ENSP00000429509:G150A;ENSP00000430237:G150A;ENSP00000261947:G150A	ENSP00000261947:G150A	G	-	2	0	RNF130	179372911	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.711000	0.84669	2.723000	0.93209	0.655000	0.94253	GGA	RNF130	-	pfam_Protease-assoc_domain		0.318	RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	RNF130	HGNC	protein_coding	OTTHUMT00000374205.1	C	NM_018434		179440305	-1	no_errors	ENST00000521389	ensembl	human	known	70_37	missense	SNP	1.000	G
RNF213	57674	genome.wustl.edu	37	17	78320002	78320002	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:78320002C>G	ENST00000582970.1	+	29	8010	c.7867C>G	c.(7867-7869)Cag>Gag	p.Q2623E	RNF213_ENST00000336301.6_Missense_Mutation_p.Q696E|RNF213_ENST00000508628.2_Missense_Mutation_p.Q2672E	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	2623					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTGCGCCTCTCAGGGTTTCAT	0.522																																																	0													93.0	96.0	95.0					17																	78320002		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.7867C>G	17.37:g.78320002C>G	ENSP00000464087:p.Gln2623Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.Q2623E	ENST00000582970.1	37	c.7867	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	14.59	2.580485	0.46006	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.39056	1.1	5.77	5.77	0.91146	.	0.158548	0.43579	D	0.000555	T	0.70657	0.3249	M	0.85197	2.74	0.47065	D	0.999305	D	0.71674	0.998	D	0.81914	0.995	T	0.74456	-0.3659	10	0.87932	D	0	.	19.9759	0.97304	0.0:1.0:0.0:0.0	.	696	Q63HN8	RN213_HUMAN	E	2623;2672;696	ENSP00000338218:Q696E	ENSP00000338218:Q696E	Q	+	1	0	RNF213	75934597	1.000000	0.71417	0.679000	0.29978	0.898000	0.52572	7.710000	0.84655	2.717000	0.92951	0.655000	0.94253	CAG	RNF213	-	NULL		0.522	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78320002	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	1.000	G
RPL8	6132	genome.wustl.edu	37	8	146015306	146015306	+	Silent	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:146015306G>A	ENST00000262584.3	-	6	889	c.657C>T	c.(655-657)atC>atT	p.I219I	ZNF34_ENST00000429371.2_5'Flank|RPL8_ENST00000394920.2_Silent_p.I219I|RPL8_ENST00000528957.1_Silent_p.I219I|RPL8_ENST00000529163.1_5'UTR|RPL8_ENST00000527914.1_Silent_p.I110I|ZNF34_ENST00000343459.4_5'Flank	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	219					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		AGGGCTTGCCGATGTGCTGGT	0.632																																																	0													89.0	88.0	89.0					8																	146015306		2203	4300	6503	SO:0001819	synonymous_variant	6132			Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"""L ribosomal proteins"""	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.657C>T	8.37:g.146015306G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Silent	SNP	pfam_Ribosomal_L2_C,pfam_Rbsml_prot_L2_RNA-bd_dom,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold-like,pirsf_Ribosomal_L2	p.I219	ENST00000262584.3	37	c.657	CCDS6433.1	8																																																																																			RPL8	-	pfam_Ribosomal_L2_C,superfamily_Translation_prot_SH3-like,pirsf_Ribosomal_L2		0.632	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL8	HGNC	protein_coding	OTTHUMT00000382948.1	G	NM_000973		146015306	-1	no_errors	ENST00000262584	ensembl	human	known	70_37	silent	SNP	0.636	A
RPS6KC1	26750	genome.wustl.edu	37	1	213446676	213446676	+	3'UTR	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:213446676C>T	ENST00000366960.3	+	0	4050				RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1						signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TCTGCACCCTCTGCTTGTTCC	0.403																																																	0																																										SO:0001624	3_prime_UTR_variant	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.*699C>T	1.37:g.213446676C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	RNA	SNP	-	NULL	ENST00000366960.3	37	NULL	CCDS1513.1	1																																																																																			RPS6KC1	-	-		0.403	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	RPS6KC1	HGNC	protein_coding	OTTHUMT00000089690.3	C	NM_012424		213446676	+1	no_errors	ENST00000490299	ensembl	human	known	70_37	rna	SNP	0.001	T
RYR1	6261	genome.wustl.edu	37	19	38945895	38945895	+	Silent	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:38945895G>C	ENST00000359596.3	+	14	1461	c.1461G>C	c.(1459-1461)ctG>ctC	p.L487L	RYR1_ENST00000360985.3_Silent_p.L487L|RYR1_ENST00000355481.4_Silent_p.L487L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	487			L -> P (in MHS1; unknown pathological significance). {ECO:0000269|PubMed:23558838}.		calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	CCATGGTCCTGAATTGCATAG	0.502											OREG0005269	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=RYR1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					0													168.0	146.0	154.0					19																	38945895		2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1461G>C	19.37:g.38945895G>C		Somatic	882	WXS	Illumina HiSeq	Phase_IV	Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L487	ENST00000359596.3	37	c.1461	CCDS33011.1	19																																																																																			RYR1	-	pfam_Ca-rel_channel		0.502	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	G			38945895	+1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	1.000	C
SALL2	6297	genome.wustl.edu	37	14	21994234	21994234	+	Intron	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr14:21994234G>A	ENST00000327430.3	-	2	368				SALL2_ENST00000450879.2_Missense_Mutation_p.R10C|SALL2_ENST00000538754.1_Missense_Mutation_p.R10C|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ACCCCGAGACGAGAGCTCCTC	0.706																																																	0													5.0	4.0	4.0					14																	21994234		841	1912	2753	SO:0001627	intron_variant	6297			AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.74-446C>T	14.37:g.21994234G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R10C	ENST00000327430.3	37	c.28	CCDS32045.1	14	.	.	.	.	.	.	.	.	.	.	G	14.79	2.640288	0.47153	.	.	ENSG00000165821	ENST00000538754;ENST00000450879;ENST00000537235	T;T;T	0.35605	1.3;3.62;1.41	3.46	3.46	0.39613	.	.	.	.	.	T	0.38799	0.1054	.	.	.	0.22571	N	0.998974	P;P;D	0.63880	0.857;0.857;0.993	B;B;P	0.47744	0.18;0.18;0.556	T	0.22626	-1.0211	8	0.87932	D	0	.	10.3022	0.43659	0.0:0.0:1.0:0.0	.	10;10;10	E7EW59;B4DFD9;Q8N656	.;.;.	C	10	ENSP00000445916:R10C;ENSP00000396773:R10C;ENSP00000438493:R10C	ENSP00000396773:R10C	R	-	1	0	SALL2	21064074	1.000000	0.71417	0.703000	0.30354	0.010000	0.07245	4.356000	0.59430	1.764000	0.52075	0.557000	0.71058	CGT	SALL2	-	NULL		0.706	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL2	HGNC	protein_coding	OTTHUMT00000401242.1	G	NM_005407		21994234	-1	no_errors	ENST00000450879	ensembl	human	putative	70_37	missense	SNP	0.498	A
SCN9A	6335	genome.wustl.edu	37	2	167138232	167138232	+	Silent	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:167138232C>T	ENST00000409435.1	-	12	2060	c.2061G>A	c.(2059-2061)caG>caA	p.Q687Q	SCN9A_ENST00000409672.1_Silent_p.Q676Q|SCN9A_ENST00000375387.4_Silent_p.Q688Q|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.Q688Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	687					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCATTGCTCTCTGTCTGAGGT	0.348																																																	0													193.0	188.0	190.0					2																	167138232		1889	4134	6023	SO:0001819	synonymous_variant	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.2061G>A	2.37:g.167138232C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.Q688	ENST00000409435.1	37	c.2064	CCDS46441.1	2																																																																																			SCN9A	-	pfam_DUF3451		0.348	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	C	NM_002977		167138232	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	silent	SNP	1.000	T
SEC23IP	11196	genome.wustl.edu	37	10	121652374	121652374	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:121652374C>T	ENST00000369075.3	+	1	152	c.80C>T	c.(79-81)tCg>tTg	p.S27L	SEC23IP_ENST00000543134.1_5'UTR	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	27	Interaction with SEC23A.				acrosome assembly (GO:0001675)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|single fertilization (GO:0007338)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear endoplasmic reticulum (GO:0097038)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		TTCTCCTCCTCGGCCACGGAG	0.622																																																	0													61.0	53.0	56.0					10																	121652374		2203	4300	6503	SO:0001583	missense	11196			AB019435	CCDS7618.1	10q26.11-q26.12	2013-01-10			ENSG00000107651	ENSG00000107651		"""Sterile alpha motif (SAM) domain containing"""	17018	protein-coding gene	gene with protein product						10400679	Standard	NM_007190		Approved	p125	uc001leu.2	Q9Y6Y8	OTTHUMG00000019161	ENST00000369075.3:c.80C>T	10.37:g.121652374C>T	ENSP00000358071:p.Ser27Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRD2|Q8IXH5|Q9BUK5	Missense_Mutation	SNP	pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD	p.S27L	ENST00000369075.3	37	c.80	CCDS7618.1	10	.	.	.	.	.	.	.	.	.	.	C	35	5.580867	0.96565	.	.	ENSG00000107651	ENST00000369075	D	0.97041	-4.22	6.04	6.04	0.98038	.	0.173320	0.51477	D	0.000093	D	0.95872	0.8656	M	0.61703	1.905	0.80722	D	1	D	0.59357	0.985	B	0.40702	0.338	D	0.95764	0.8803	10	0.52906	T	0.07	-13.5611	18.3679	0.90398	0.0:1.0:0.0:0.0	.	27	Q9Y6Y8	S23IP_HUMAN	L	27	ENSP00000358071:S27L	ENSP00000358071:S27L	S	+	2	0	SEC23IP	121642364	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.216000	0.58540	2.873000	0.98535	0.563000	0.77884	TCG	SEC23IP	-	NULL		0.622	SEC23IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23IP	HGNC	protein_coding	OTTHUMT00000050688.1	C			121652374	+1	no_errors	ENST00000369075	ensembl	human	known	70_37	missense	SNP	1.000	T
SEPT14	346288	genome.wustl.edu	37	7	55874943	55874943	+	Missense_Mutation	SNP	C	C	T	rs78957351		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:55874943C>T	ENST00000388975.3	-	8	942	c.826G>A	c.(826-828)Gaa>Aaa	p.E276K		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	276	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGTGATTTTCATTTTCCACT	0.313																																																	0													68.0	69.0	69.0					7																	55874943		2202	4300	6502	SO:0001583	missense	346288			AK126048	CCDS5519.2	7p11.2	2013-01-21			ENSG00000154997	ENSG00000154997		"""Septins"""	33280	protein-coding gene	gene with protein product		612140					Standard	NM_207366		Approved	FLJ44060	uc003tqz.2	Q6ZU15	OTTHUMG00000129341	ENST00000388975.3:c.826G>A	7.37:g.55874943C>T	ENSP00000373627:p.Glu276Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCC2|B4DXD6	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin	p.E276K	ENST00000388975.3	37	c.826	CCDS5519.2	7	.	.	.	.	.	.	.	.	.	.	C	22.7	4.322855	0.81580	.	.	ENSG00000154997	ENST00000388975	T	0.36340	1.26	3.24	3.24	0.37175	.	0.150034	0.43579	D	0.000555	T	0.59514	0.2199	M	0.81239	2.535	0.53005	D	0.999966	D	0.89917	1.0	D	0.97110	1.0	T	0.65001	-0.6274	10	0.56958	D	0.05	.	12.756	0.57335	0.0:1.0:0.0:0.0	.	276	Q6ZU15	SEP14_HUMAN	K	276	ENSP00000373627:E276K	ENSP00000373627:E276K	E	-	1	0	SEPT14	55842437	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.964000	0.70379	2.116000	0.64780	0.557000	0.71058	GAA	SEPT14	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.313	SEPT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT14	HGNC	protein_coding	OTTHUMT00000251489.2	C	NM_207366		55874943	-1	no_errors	ENST00000388975	ensembl	human	known	70_37	missense	SNP	1.000	T
SEZ6L	23544	genome.wustl.edu	37	22	26688956	26688956	+	Missense_Mutation	SNP	G	G	C	rs147999138	byFrequency	TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr22:26688956G>C	ENST00000248933.6	+	2	774	c.679G>C	c.(679-681)Gac>Cac	p.D227H	SEZ6L_ENST00000343706.4_Missense_Mutation_p.D227H|SEZ6L_ENST00000529632.2_Missense_Mutation_p.D227H|SEZ6L_ENST00000360929.3_Missense_Mutation_p.D227H|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000404234.3_Missense_Mutation_p.D227H|SEZ6L_ENST00000403121.1_5'UTR			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	227					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GCCTGGGCCTGACATGGCCCA	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		15571	0.0		0.0	False		,,,				2504	0.0																0								G	HIS/ASP,HIS/ASP,HIS/ASP,HIS/ASP,HIS/ASP,HIS/ASP	1,4405		0,1,2202	32.0	36.0	35.0		679,679,679,679,679,679	3.3	0.0	22	dbSNP_134	35	0,8598		0,0,4299	no	missense,missense,missense,missense,missense,missense	SEZ6L	NM_001184773.1,NM_001184774.1,NM_001184775.1,NM_001184776.1,NM_001184777.1,NM_021115.4	81,81,81,81,81,81	0,1,6501	CC,CG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign,benign	227/1024,227/1014,227/1012,227/950,227/949,227/1025	26688956	1,13003	2203	4299	6502	SO:0001583	missense	23544			AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.679G>C	22.37:g.26688956G>C	ENSP00000248933:p.Asp227His	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.D227H	ENST00000248933.6	37	c.679	CCDS13833.1	22	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759861	0.31137	2.27E-4	0.0	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706	T;T;T;T;T	0.27720	1.89;2.0;2.09;1.89;1.65	4.3	3.26	0.37387	.	0.917339	0.08819	U	0.889089	T	0.25754	0.0627	N	0.08118	0	0.32875	D	0.509754	B;B;P;P;B;B	0.48503	0.41;0.41;0.799;0.911;0.41;0.41	B;B;P;P;B;B	0.47941	0.135;0.135;0.471;0.562;0.191;0.191	T	0.41645	-0.9497	10	0.62326	D	0.03	.	13.9881	0.64348	0.0:0.1533:0.8467:0.0	.	227;227;227;227;227;227	B7ZLJ8;B7ZLJ6;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;SE6L1_HUMAN	H	227	ENSP00000384772:D227H;ENSP00000437037:D227H;ENSP00000354185:D227H;ENSP00000248933:D227H;ENSP00000342661:D227H	ENSP00000248933:D227H	D	+	1	0	SEZ6L	25018956	0.014000	0.17966	0.003000	0.11579	0.006000	0.05464	1.081000	0.30791	1.098000	0.41479	0.508000	0.49915	GAC	SEZ6L	-	NULL		0.647	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEZ6L	HGNC	protein_coding	OTTHUMT00000320359.3	G			26688956	+1	no_errors	ENST00000248933	ensembl	human	known	70_37	missense	SNP	0.021	C
SLC25A15	10166	genome.wustl.edu	37	13	41379374	41379374	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr13:41379374G>C	ENST00000338625.4	+	4	671	c.435G>C	c.(433-435)aaG>aaC	p.K145N	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	145					cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|L-ornithine transmembrane transport (GO:1903352)|mitochondrial ornithine transport (GO:0000066)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	L-ornithine transmembrane transporter activity (GO:0000064)			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	CATCAGGGAAGATAGCCAAGA	0.507																																																	0													99.0	91.0	94.0					13																	41379374		2203	4300	6503	SO:0001583	missense	10166			AF112968	CCDS9373.1	13q14	2013-05-22			ENSG00000102743	ENSG00000102743		"""Solute carriers"""	10985	protein-coding gene	gene with protein product	"""ornithine transporter 1"""	603861		ORNT1, HHH		10369256	Standard	NM_014252		Approved	ORC1, D13S327	uc001uxn.3	Q9Y619	OTTHUMG00000016776	ENST00000338625.4:c.435G>C	13.37:g.41379374G>C	ENSP00000342267:p.Lys145Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VZD8|Q9HC45	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.K145N	ENST00000338625.4	37	c.435	CCDS9373.1	13	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404311	0.42613	.	.	ENSG00000102743	ENST00000338625;ENST00000443985	T	0.79653	-1.29	5.62	4.77	0.60923	Mitochondrial carrier domain (2);	0.477631	0.24960	N	0.034232	T	0.79046	0.4380	L	0.55481	1.735	0.80722	D	1	P;B	0.35307	0.494;0.058	B;B	0.40782	0.34;0.088	T	0.75445	-0.3315	10	0.28530	T	0.3	.	13.5365	0.61650	0.0751:0.0:0.9249:0.0	.	85;145	B4DL63;Q9Y619	.;ORNT1_HUMAN	N	145;85	ENSP00000342267:K145N	ENSP00000342267:K145N	K	+	3	2	SLC25A15	40277374	1.000000	0.71417	0.901000	0.35422	0.426000	0.31534	4.073000	0.57570	1.372000	0.46190	0.650000	0.86243	AAG	SLC25A15	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.507	SLC25A15-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A15	HGNC	protein_coding	OTTHUMT00000276149.2	G	NM_014252		41379374	+1	no_errors	ENST00000338625	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC25A30	253512	genome.wustl.edu	37	13	45975286	45975286	+	Silent	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr13:45975286G>C	ENST00000539591.1	-	6	556	c.393C>G	c.(391-393)gtC>gtG	p.V131V				Q5SVS4	KMCP1_HUMAN	solute carrier family 25, member 30	182					mitochondrial transport (GO:0006839)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.95e-05)		TGATGTCATAGACCGGCAGCT	0.418																																																	0													94.0	90.0	91.0					13																	45975286		2203	4300	6503	SO:0001819	synonymous_variant	253512			AK074457	CCDS31967.1, CCDS66539.1	13q14	2013-05-22			ENSG00000174032	ENSG00000174032		"""Solute carriers"""	27371	protein-coding gene	gene with protein product		610793					Standard	XM_005266321		Approved		uc001vag.3	Q5SVS4	OTTHUMG00000016853	ENST00000539591.1:c.393C>G	13.37:g.45975286G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN96|B4DZK3|F5H8H8	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling,prints_Mit_carrier	p.V182	ENST00000539591.1	37	c.546		13																																																																																			SLC25A30	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.418	SLC25A30-201	KNOWN	basic	protein_coding	SLC25A30	HGNC	protein_coding		G	XM_170736		45975286	-1	no_errors	ENST00000519676	ensembl	human	known	70_37	silent	SNP	0.999	C
SLC25A53	401612	genome.wustl.edu	37	X	103349718	103349718	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:103349718G>C	ENST00000357421.4	-	2	403	c.223C>G	c.(223-225)Caa>Gaa	p.Q75E		NM_001012755.3	NP_001012773.2	Q5H9E4	S2553_HUMAN	solute carrier family 25, member 53	75					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TAGAAGTATTGAGGACCTTCA	0.488																																																	0													66.0	61.0	62.0					X																	103349718		2203	4300	6503	SO:0001583	missense	401612				CCDS35363.1	Xq22.2	2013-05-22	2012-03-29	2012-03-29	ENSG00000176274	ENSG00000269743		"""Solute carriers"""	31894	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 6"""	MCART6			Standard	NM_001012755		Approved		uc004elu.3	Q5H9E4	OTTHUMG00000022124	ENST00000357421.4:c.223C>G	X.37:g.103349718G>C	ENSP00000361681:p.Gln75Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTT9	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.Q75E	ENST00000357421.4	37	c.223	CCDS35363.1	X	.	.	.	.	.	.	.	.	.	.	g	9.468	1.094897	0.20471	.	.	ENSG00000176274	ENST00000357421	T	0.78003	-1.14	4.16	3.27	0.37495	Mitochondrial carrier domain (2);	0.702915	0.13565	N	0.378453	T	0.63070	0.2480	L	0.32530	0.975	0.09310	N	1	B	0.22414	0.069	B	0.24541	0.054	T	0.46638	-0.9177	10	0.13108	T	0.6	-7.8249	6.3972	0.21618	0.0:0.2001:0.5902:0.2097	.	75	Q5H9E4	MCAR6_HUMAN	E	75	ENSP00000361681:Q75E	ENSP00000361681:Q75E	Q	-	1	0	MCART6	103236374	0.000000	0.05858	0.999000	0.59377	0.974000	0.67602	0.633000	0.24598	0.862000	0.35528	0.591000	0.81541	CAA	SLC25A53	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.488	SLC25A53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A53	HGNC	protein_coding	OTTHUMT00000057761.1	G	NM_001012755		103349718	-1	no_errors	ENST00000357421	ensembl	human	known	70_37	missense	SNP	0.180	C
SLC39A14	23516	genome.wustl.edu	37	8	22262421	22262421	+	Silent	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:22262421C>G	ENST00000381237.1	+	2	317	c.198C>G	c.(196-198)ctC>ctG	p.L66L	SLC39A14_ENST00000240095.6_Silent_p.L66L|SLC39A14_ENST00000289952.5_Silent_p.L66L|SLC39A14_ENST00000359741.5_Silent_p.L66L	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	66					cellular zinc ion homeostasis (GO:0006882)|transmembrane transport (GO:0055085)|zinc ion transmembrane import (GO:0071578)|zinc ion transmembrane transport (GO:0071577)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ferrous iron transmembrane transporter activity (GO:0015093)|zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		AGGCCCTACTCAACCACCTGG	0.602																																																	0													68.0	63.0	65.0					8																	22262421		2203	4300	6503	SO:0001819	synonymous_variant	23516			D31887	CCDS6030.1, CCDS47822.1, CCDS47823.1	8p21.2	2013-05-22			ENSG00000104635	ENSG00000104635		"""Solute carriers"""	20858	protein-coding gene	gene with protein product		608736	"""solute carrier family 39 (metal ion transporter), member 14"""			12659941	Standard	NM_015359		Approved	KIAA0062, NET34, ZIP14	uc011kzh.2	Q15043	OTTHUMG00000097791	ENST00000381237.1:c.198C>G	8.37:g.22262421C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH98|B4DIW3|B6EU88|D3DSR4|Q6ZME8|Q96BB3	Silent	SNP	pfam_ZIP	p.L66	ENST00000381237.1	37	c.198	CCDS47823.1	8																																																																																			SLC39A14	-	NULL		0.602	SLC39A14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A14	HGNC	protein_coding	OTTHUMT00000215039.2	C	XM_046677		22262421	+1	no_errors	ENST00000359741	ensembl	human	known	70_37	silent	SNP	1.000	G
SLC5A9	200010	genome.wustl.edu	37	1	48688468	48688468	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:48688468G>C	ENST00000438567.2	+	1	112	c.60G>C	c.(58-60)gaG>gaC	p.E20D	SLC5A9_ENST00000236495.5_Missense_Mutation_p.E20D|SLC5A9_ENST00000533824.1_Missense_Mutation_p.E20D|SLC5A9_ENST00000420136.2_Missense_Mutation_p.E13D	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	20					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						TCAGGACTGAGACAGCTCCAC	0.562																																																	0													141.0	106.0	118.0					1																	48688468		2203	4300	6503	SO:0001583	missense	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.60G>C	1.37:g.48688468G>C	ENSP00000401730:p.Glu20Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.E20D	ENST00000438567.2	37	c.60	CCDS30709.2	1	.	.	.	.	.	.	.	.	.	.	G	8.004	0.756061	0.15846	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495;ENST00000420136	D;D;D;D	0.87887	-2.24;-2.23;-2.31;-1.7	5.04	-1.86	0.07760	.	1.225100	0.05640	N	0.583257	T	0.74313	0.3700	L	0.34521	1.04	0.09310	N	1	B;B;B	0.27264	0.0;0.0;0.173	B;B;B	0.23852	0.0;0.0;0.049	T	0.56294	-0.8003	10	0.15066	T	0.55	.	0.218	0.00164	0.2981:0.223:0.2523:0.2267	.	20;20;20	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	D	20;20;20;13	ENSP00000431900:E20D;ENSP00000401730:E20D;ENSP00000236495:E20D;ENSP00000408881:E13D	ENSP00000236495:E20D	E	+	3	2	SLC5A9	48461055	0.023000	0.18921	0.000000	0.03702	0.175000	0.22909	-0.532000	0.06164	-0.415000	0.07484	-0.259000	0.10710	GAG	SLC5A9	-	NULL		0.562	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	HGNC	protein_coding	OTTHUMT00000022061.3	G	XM_117174		48688468	+1	no_errors	ENST00000236495	ensembl	human	known	70_37	missense	SNP	0.000	C
SLC5A9	200010	genome.wustl.edu	37	1	48688562	48688562	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:48688562G>C	ENST00000438567.2	+	1	206	c.154G>C	c.(154-156)Ggg>Cgg	p.G52R	SLC5A9_ENST00000236495.5_Missense_Mutation_p.G52R|SLC5A9_ENST00000533824.1_Missense_Mutation_p.G52R|SLC5A9_ENST00000420136.2_Missense_Mutation_p.G45R	NM_001011547.2	NP_001011547.2	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	52					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CATTGCTGTGGGGATCTGGGT	0.592																																																	0													102.0	70.0	81.0					1																	48688562		2203	4300	6503	SO:0001583	missense	200010			BX648549	CCDS30709.2, CCDS44136.1	1p33	2013-07-19	2013-07-19		ENSG00000117834	ENSG00000117834		"""Solute carriers"""	22146	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 9"""				Standard	NM_001011547		Approved	SGLT4	uc001crn.2	Q2M3M2	OTTHUMG00000007959	ENST00000438567.2:c.154G>C	1.37:g.48688562G>C	ENSP00000401730:p.Gly52Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KY87|B7ZL45|B7ZL47|E9PAK4|E9PJ08|Q5TET3	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.G52R	ENST00000438567.2	37	c.154	CCDS30709.2	1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560949	0.65538	.	.	ENSG00000117834	ENST00000533824;ENST00000438567;ENST00000236495;ENST00000420136	D;D;D;D	0.94138	-3.36;-3.27;-3.28;-2.87	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.96725	0.8931	M	0.80616	2.505	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	D	0.97186	0.9854	10	0.87932	D	0	.	17.8116	0.88619	0.0:0.0:1.0:0.0	.	52;52;52	E9PJ08;Q2M3M2;E9PAK4	.;SC5A9_HUMAN;.	R	52;52;52;45	ENSP00000431900:G52R;ENSP00000401730:G52R;ENSP00000236495:G52R;ENSP00000408881:G45R	ENSP00000236495:G52R	G	+	1	0	SLC5A9	48461149	1.000000	0.71417	0.975000	0.42487	0.227000	0.25037	8.805000	0.91925	2.630000	0.89119	0.557000	0.71058	GGG	SLC5A9	-	pfscan_Na/solute_symporter		0.592	SLC5A9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A9	HGNC	protein_coding	OTTHUMT00000022061.3	G	XM_117174		48688562	+1	no_errors	ENST00000236495	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC7A11	23657	genome.wustl.edu	37	4	139135743	139135743	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:139135743C>T	ENST00000280612.5	-	6	1066	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	263					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|brain development (GO:0007420)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|lens fiber cell differentiation (GO:0070306)|leukocyte migration (GO:0050900)|platelet aggregation (GO:0070527)|response to nicotine (GO:0035094)|response to oxidative stress (GO:0006979)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	cell surface (GO:0009986)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	cystine:glutamate antiporter activity (GO:0015327)			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				Acetylcysteine(DB06151)|L-Cystine(DB00138)|Riluzole(DB00740)|Rosuvastatin(DB01098)|Sulfasalazine(DB00795)|Tauroursodeoxycholic acid(DB08834)	ACTTACTTTTCAGGGTTTTCT	0.279																																																	0													47.0	55.0	52.0					4																	139135743		2198	4288	6486	SO:0001583	missense	23657			AB026891	CCDS3742.1	4q28-q32	2013-05-22	2011-07-12		ENSG00000151012	ENSG00000151012		"""Solute carriers"""	11059	protein-coding gene	gene with protein product		607933				10206947, 12763038	Standard	XM_005262875		Approved	xCT	uc021xrw.1	Q9UPY5	OTTHUMG00000133396	ENST00000280612.5:c.787G>A	4.37:g.139135743C>T	ENSP00000280612:p.Glu263Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2U4	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter	p.E263K	ENST00000280612.5	37	c.787	CCDS3742.1	4	.	.	.	.	.	.	.	.	.	.	C	14.69	2.609214	0.46527	.	.	ENSG00000151012	ENST00000280612	D	0.88046	-2.33	5.49	5.49	0.81192	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.83184	0.5199	L	0.29908	0.895	0.58432	D	0.999999	B	0.20368	0.044	B	0.29353	0.101	T	0.77130	-0.2701	10	0.27785	T	0.31	.	19.3602	0.94434	0.0:1.0:0.0:0.0	.	263	Q9UPY5	XCT_HUMAN	K	263	ENSP00000280612:E263K	ENSP00000280612:E263K	E	-	1	0	SLC7A11	139355193	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.020000	0.70826	2.579000	0.87056	0.561000	0.74099	GAA	SLC7A11	-	pfam_AA-permease_dom,pfam_AA_transpt_TM,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter		0.279	SLC7A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A11	HGNC	protein_coding	OTTHUMT00000257251.2	C			139135743	-1	no_errors	ENST00000280612	ensembl	human	known	70_37	missense	SNP	1.000	T
SMARCA2	6595	genome.wustl.edu	37	9	2115948	2115948	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:2115948G>C	ENST00000382203.1	+	25	3792	c.3583G>C	c.(3583-3585)Gat>Cat	p.D1195H	SMARCA2_ENST00000349721.2_Missense_Mutation_p.D1195H|SMARCA2_ENST00000357248.2_Missense_Mutation_p.D1195H|SMARCA2_ENST00000382194.1_Missense_Mutation_p.D1195H			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1195	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCTGAACGTGGATCAGAAAGT	0.557																																																	0													48.0	46.0	47.0					9																	2115948		2203	4300	6503	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3583G>C	9.37:g.2115948G>C	ENSP00000371638:p.Asp1195His	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.D1195H	ENST00000382203.1	37	c.3583	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	G	14.37	2.516633	0.44763	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.75938	-0.98;-0.98;-0.98;-0.98	5.67	4.78	0.61160	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87912	0.6297	M	0.88979	2.995	0.80722	D	1	D;P;P	0.89917	1.0;0.954;0.923	D;P;P	0.85130	0.997;0.675;0.476	D	0.90219	0.4270	10	0.87932	D	0	-23.6951	14.5948	0.68397	0.07:0.0:0.93:0.0	.	796;1195;1195	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	H	1195	ENSP00000265773:D1195H;ENSP00000349788:D1195H;ENSP00000371638:D1195H;ENSP00000371629:D1195H	ENSP00000265773:D1195H	D	+	1	0	SMARCA2	2105948	1.000000	0.71417	1.000000	0.80357	0.336000	0.28762	9.869000	0.99810	1.412000	0.46977	-0.251000	0.11542	GAT	SMARCA2	-	pfscan_Helicase_C		0.557	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	G	NM_003070		2115948	+1	no_errors	ENST00000349721	ensembl	human	known	70_37	missense	SNP	1.000	C
SMARCA2	6595	genome.wustl.edu	37	9	2123896	2123896	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr9:2123896G>A	ENST00000382203.1	+	27	4149	c.3940G>A	c.(3940-3942)Gtg>Atg	p.V1314M	SMARCA2_ENST00000349721.2_Missense_Mutation_p.V1314M|SMARCA2_ENST00000357248.2_Missense_Mutation_p.V1314M|SMARCA2_ENST00000382194.1_Missense_Mutation_p.V1314M			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1314					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GCGCCGTGACGTGGACTACAG	0.547																																																	0													29.0	30.0	30.0					9																	2123896		2201	4298	6499	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3940G>A	9.37:g.2123896G>A	ENSP00000371638:p.Val1314Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.V1314M	ENST00000382203.1	37	c.3940	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090505	0.76756	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	D;D;D;D	0.89875	-2.58;-2.55;-2.58;-2.55	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000001	D	0.94735	0.8301	M	0.78344	2.41	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.83275	0.937;0.996;0.992	D	0.94564	0.7765	10	0.62326	D	0.03	-29.3927	19.7714	0.96367	0.0:0.0:1.0:0.0	.	915;1314;1314	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	M	1314	ENSP00000265773:V1314M;ENSP00000349788:V1314M;ENSP00000371638:V1314M;ENSP00000371629:V1314M	ENSP00000265773:V1314M	V	+	1	0	SMARCA2	2113896	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.832000	0.99423	2.666000	0.90696	0.655000	0.94253	GTG	SMARCA2	-	superfamily_RNaseH-like_dom		0.547	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	G	NM_003070		2123896	+1	no_errors	ENST00000349721	ensembl	human	known	70_37	missense	SNP	1.000	A
SMARCAD1	56916	genome.wustl.edu	37	4	95129564	95129564	+	Missense_Mutation	SNP	G	G	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:95129564G>T	ENST00000354268.4	+	2	92	c.19G>T	c.(19-21)Gac>Tac	p.D7Y	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.D7Y|RP11-363G15.2_ENST00000501965.2_lincRNA			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	7					ATP-dependent chromatin remodeling (GO:0043044)|chromatin modification (GO:0016568)|chromatin remodeling (GO:0006338)|chromosome separation (GO:0051304)|DNA double-strand break processing (GO:0000729)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|nucleotide metabolic process (GO:0009117)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|regulation of DNA recombination (GO:0000018)	heterochromatin (GO:0000792)|nuclear matrix (GO:0016363)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TTTCAACCTGGACCGTTTTCG	0.463																																																	0													92.0	103.0	99.0					4																	95129564		2203	4300	6503	SO:0001583	missense	56916			AB032948	CCDS3639.1, CCDS47101.1, CCDS58914.1	4q22-q23	2008-02-05			ENSG00000163104	ENSG00000163104			18398	protein-coding gene	gene with protein product		612761				11031099	Standard	NM_001128430		Approved	ETL1, DKFZP762K2015, KIAA1122, DKFZp762K2015	uc003htb.4	Q9H4L7	OTTHUMG00000130971	ENST00000354268.4:c.19G>T	4.37:g.95129564G>T	ENSP00000346217:p.Asp7Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z799|Q05D56|Q96SX1|Q9H017|Q9H860|Q9NPU9|Q9ULU7	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_UBA-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_CUE,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D7Y	ENST00000354268.4	37	c.19	CCDS3639.1	4	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937645	0.73557	.	.	ENSG00000163104	ENST00000359052;ENST00000457823;ENST00000536267;ENST00000354268	T;T;T	0.50813	0.73;0.73;0.73	5.36	5.36	0.76844	.	0.000000	0.34700	N	0.003752	T	0.55353	0.1915	N	0.24115	0.695	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.99;0.996	T	0.60010	-0.7346	10	0.87932	D	0	-15.5764	14.583	0.68305	0.0:0.0:1.0:0.0	.	7;7	Q9H4L7;Q9H4L7-2	SMRCD_HUMAN;.	Y	7	ENSP00000351947:D7Y;ENSP00000415576:D7Y;ENSP00000346217:D7Y	ENSP00000346217:D7Y	D	+	1	0	SMARCAD1	95348587	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.930000	0.63462	2.491000	0.84063	0.561000	0.74099	GAC	SMARCAD1	-	NULL		0.463	SMARCAD1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMARCAD1	HGNC	protein_coding	OTTHUMT00000253583.1	G	NM_020159		95129564	+1	no_errors	ENST00000359052	ensembl	human	known	70_37	missense	SNP	1.000	T
SMPDL3B	27293	genome.wustl.edu	37	1	28282269	28282269	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:28282269C>G	ENST00000373894.3	+	6	956	c.765C>G	c.(763-765)ttC>ttG	p.F255L	SMPDL3B_ENST00000373888.4_Missense_Mutation_p.F255L|SMPDL3B_ENST00000549094.1_Missense_Mutation_p.F207L|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	255					sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		GGGAGGGCTTCAATGAAAAAT	0.552																																																	0													97.0	90.0	92.0					1																	28282269		2203	4300	6503	SO:0001583	missense	27293			Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.765C>G	1.37:g.28282269C>G	ENSP00000363001:p.Phe255Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZB35|Q5T0Z0|Q96CB7	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd	p.F255L	ENST00000373894.3	37	c.765	CCDS30655.1	1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585990	0.46110	.	.	ENSG00000130768	ENST00000373894;ENST00000373888;ENST00000549094;ENST00000412515	D;D;D	0.91237	-2.81;-2.81;-2.81	5.34	4.41	0.53225	Metallophosphoesterase domain (1);	0.046960	0.85682	D	0.000000	D	0.93387	0.7891	M	0.76002	2.32	0.39437	D	0.967182	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.74674	0.972;0.984;0.962	D	0.91922	0.5548	10	0.33940	T	0.23	-29.989	7.601	0.28075	0.0:0.7168:0.1385:0.1447	.	207;255;255	F8VWW8;Q92485;Q92485-2	.;ASM3B_HUMAN;.	L	255;255;207;207	ENSP00000363001:F255L;ENSP00000362995:F255L;ENSP00000449450:F207L	ENSP00000362995:F255L	F	+	3	2	SMPDL3B	28154856	0.990000	0.36364	0.983000	0.44433	0.015000	0.08874	0.325000	0.19628	1.203000	0.43233	0.462000	0.41574	TTC	SMPDL3B	-	pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd		0.552	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMPDL3B	HGNC	protein_coding	OTTHUMT00000011170.1	C	NM_014474		28282269	+1	no_errors	ENST00000373894	ensembl	human	known	70_37	missense	SNP	1.000	G
SNN	8303	genome.wustl.edu	37	16	11770038	11770038	+	Silent	SNP	C	C	T	rs376162683		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:11770038C>T	ENST00000329565.5	+	2	335	c.123C>T	c.(121-123)atC>atT	p.I41I	TXNDC11_ENST00000570917.1_5'Flank	NM_003498.5	NP_003489.1	O75324	SNN_HUMAN	stannin	41					response to abiotic stimulus (GO:0009628)|response to stress (GO:0006950)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				endometrium(1)	1						TGCAGCGCATCAGCCAGTCAG	0.637																																																	0								C		1,4393	2.1+/-5.4	0,1,2196	93.0	63.0	73.0		123	4.5	1.0	16		73	0,8600		0,0,4300	no	coding-synonymous	SNN	NM_003498.5		0,1,6496	TT,TC,CC		0.0,0.0228,0.0077		41/89	11770038	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	8303			AF030196	CCDS10549.1	16p13	2008-02-05			ENSG00000184602	ENSG00000184602			11149	protein-coding gene	gene with protein product		603032				9657854	Standard	NM_003498		Approved		uc002dbf.3	O75324	OTTHUMG00000090535	ENST00000329565.5:c.123C>T	16.37:g.11770038C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUG4|Q6FGI0	Silent	SNP	pfam_SNN_transmemb,pfam_SNN_linker,pfam_SNN_cytoplasm	p.I41	ENST00000329565.5	37	c.123	CCDS10549.1	16																																																																																			SNN	-	pfam_SNN_linker		0.637	SNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNN	HGNC	protein_coding	OTTHUMT00000207059.1	C	NM_003498		11770038	+1	no_errors	ENST00000329565	ensembl	human	known	70_37	silent	SNP	1.000	T
SNTG1	54212	genome.wustl.edu	37	8	51415431	51415431	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr8:51415431G>C	ENST00000522124.1	+	9	1118	c.457G>C	c.(457-459)Gat>Cat	p.D153H	SNTG1_ENST00000518864.1_Missense_Mutation_p.D153H|SNTG1_ENST00000517473.1_Missense_Mutation_p.D153H|SNTG1_ENST00000276467.5_Missense_Mutation_p.D153H	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	153					cell communication (GO:0007154)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)|syntrophin complex (GO:0016013)	protein C-terminus binding (GO:0008022)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				ATTGAATGAAGATTGTGCATG	0.323																																																	0													64.0	61.0	62.0					8																	51415431		2203	4300	6503	SO:0001583	missense	54212			AJ003030	CCDS6147.1, CCDS75737.1	8q11-q12	2008-07-03				ENSG00000147481			13740	protein-coding gene	gene with protein product		608714				10747910	Standard	NM_018967		Approved	SYN4, G1SYN	uc003xqs.1	Q9NSN8		ENST00000522124.1:c.457G>C	8.37:g.51415431G>C	ENSP00000429842:p.Asp153His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3Q0|Q9NY98	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology	p.D153H	ENST00000522124.1	37	c.457	CCDS6147.1	8	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865406	0.71949	.	.	ENSG00000147481	ENST00000518864;ENST00000522124;ENST00000517473;ENST00000276467	T;T;T;T	0.29917	1.55;1.55;2.3;2.3	4.86	4.86	0.63082	.	0.048094	0.85682	D	0.000000	T	0.50394	0.1613	L	0.51422	1.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.958;0.994	T	0.49615	-0.8921	10	0.54805	T	0.06	.	16.9297	0.86187	0.0:0.0:1.0:0.0	.	153;153	Q9NSN8-2;Q9NSN8	.;SNTG1_HUMAN	H	153	ENSP00000429276:D153H;ENSP00000429842:D153H;ENSP00000431123:D153H;ENSP00000276467:D153H	ENSP00000276467:D153H	D	+	1	0	SNTG1	51577984	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.813000	0.86123	2.394000	0.81467	0.655000	0.94253	GAT	SNTG1	-	NULL		0.323	SNTG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNTG1	HGNC	protein_coding	OTTHUMT00000377964.1	G			51415431	+1	no_errors	ENST00000518864	ensembl	human	known	70_37	missense	SNP	1.000	C
SOS2	6655	genome.wustl.edu	37	14	50605348	50605348	+	Silent	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr14:50605348C>G	ENST00000216373.5	-	18	3214	c.2940G>C	c.(2938-2940)cgG>cgC	p.R980R	SOS2_ENST00000543680.1_Silent_p.R947R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	980	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				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)					CTGGTTCTATCCGTAAACAGT	0.318																																																	0													92.0	92.0	92.0					14																	50605348		2201	4299	6500	SO:0001819	synonymous_variant	6655			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.2940G>C	14.37:g.50605348C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	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.R980	ENST00000216373.5	37	c.2940	CCDS9697.1	14																																																																																			SOS2	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.318	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	C			50605348	-1	no_errors	ENST00000216373	ensembl	human	known	70_37	silent	SNP	0.999	G
SPZ1	84654	genome.wustl.edu	37	5	79617033	79617033	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:79617033G>C	ENST00000296739.4	+	1	1244	c.999G>C	c.(997-999)caG>caC	p.Q333H		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	333					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TCTTACAGCAGAGAGTAGAGA	0.423																																																	0													115.0	109.0	111.0					5																	79617033		1891	4125	6016	SO:0001583	missense	84654				CCDS43336.1	5q14.1	2014-06-13				ENSG00000164299			30721	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 148"""					11165476, 12778315, 15226296, 15829580, 15899793	Standard	NM_032567		Approved	NYD-TSP1, FLJ25709, PPP1R148	uc003kgn.3	Q9BXG8		ENST00000296739.4:c.999G>C	5.37:g.79617033G>C	ENSP00000369611:p.Gln333His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA21|Q8N4P1|Q8N7E9	Missense_Mutation	SNP	NULL	p.Q333H	ENST00000296739.4	37	c.999	CCDS43336.1	5	.	.	.	.	.	.	.	.	.	.	G	6.442	0.449667	0.12223	.	.	ENSG00000164299	ENST00000296739	T	0.40756	1.02	4.5	0.416	0.16416	.	0.293405	0.24962	N	0.034208	T	0.36166	0.0957	L	0.56199	1.76	0.21105	N	0.999783	B	0.23891	0.093	B	0.27170	0.077	T	0.35201	-0.9798	10	0.54805	T	0.06	-1.6401	9.6832	0.40082	0.0862:0.5892:0.3246:0.0	.	333	Q9BXG8	SPZ1_HUMAN	H	333	ENSP00000369611:Q333H	ENSP00000369611:Q333H	Q	+	3	2	SPZ1	79652789	0.733000	0.28132	0.669000	0.29828	0.115000	0.19883	-0.188000	0.09642	0.060000	0.16281	0.557000	0.71058	CAG	SPZ1	-	NULL		0.423	SPZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPZ1	HGNC	protein_coding	OTTHUMT00000369322.1	G	NM_032567		79617033	+1	no_errors	ENST00000296739	ensembl	human	known	70_37	missense	SNP	0.520	C
SSH1	54434	genome.wustl.edu	37	12	109198894	109198894	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:109198894C>G	ENST00000326495.5	-	10	985	c.892G>C	c.(892-894)Gag>Cag	p.E298Q	SSH1_ENST00000326470.5_Missense_Mutation_p.E309Q|SSH1_ENST00000551165.1_Missense_Mutation_p.E298Q|SSH1_ENST00000360239.3_Start_Codon_SNP_p.M1I	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	298					actin cytoskeleton organization (GO:0030036)|cell morphogenesis (GO:0000902)|cellular response to ATP (GO:0071318)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of cellular protein metabolic process (GO:0032268)|regulation of lamellipodium assembly (GO:0010591)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E298K(1)		breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGTAGCATCTCATTGTCTATA	0.398																																																	1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											145.0	130.0	135.0					12																	109198894		2203	4300	6503	SO:0001583	missense	54434			BC062341	CCDS9121.1, CCDS53825.1, CCDS55882.1	12q24.12	2013-03-05	2013-03-05			ENSG00000084112		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30579	protein-coding gene	gene with protein product		606778	"""slingshot homolog 1 (Drosophila)"""			10718198, 11832213	Standard	NM_018984		Approved	KIAA1298	uc001tnm.3	Q8WYL5	OTTHUMG00000169371	ENST00000326495.5:c.892G>C	12.37:g.109198894C>G	ENSP00000315713:p.Glu298Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P6C0|Q8N9A7|Q8WYL3|Q8WYL4|Q9P2P8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.E298Q	ENST00000326495.5	37	c.892	CCDS9121.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.15|16.15	3.042361|3.042361	0.55003|0.55003	.|.	.|.	ENSG00000084112|ENSG00000084112	ENST00000326495;ENST00000551165;ENST00000326470|ENST00000360239	T;T;T|T	0.60299|0.08720	0.2;0.2;0.2|3.06	5.13|5.13	5.13|5.13	0.70059|0.70059	DEK, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.10035|0.10035	0.0246|0.0246	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	P;D;B|P	0.55172|0.38504	0.686;0.97;0.097|0.634	B;P;B|B	0.59424|0.34242	0.397;0.857;0.303|0.178	T|T	0.06625|0.06625	-1.0816|-1.0816	10|9	0.32370|0.87932	T|D	0.25|0	-35.1157|-35.1157	18.9648|18.9648	0.92692|0.92692	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	309;298;298|1	Q8WYL5-5;Q8WYL5-2;Q8WYL5|Q8WYL5-4	.;.;SSH1_HUMAN|.	Q|I	298;298;309|1	ENSP00000315713:E298Q;ENSP00000448824:E298Q;ENSP00000326107:E309Q|ENSP00000353374:M1I	ENSP00000326107:E309Q|ENSP00000353374:M1I	E|M	-|-	1|3	0|0	SSH1|SSH1	107723023|107723023	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.964000|0.964000	0.63967|0.63967	7.725000|7.725000	0.84808|0.84808	2.523000|2.523000	0.85059|0.85059	0.655000|0.655000	0.94253|0.94253	GAG|ATG	SSH1	-	pfam_DEK_C		0.398	SSH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSH1	HGNC	protein_coding	OTTHUMT00000403724.1	C	NM_018984		109198894	-1	no_errors	ENST00000326495	ensembl	human	known	70_37	missense	SNP	1.000	G
ST5	6764	genome.wustl.edu	37	11	8720516	8720516	+	Silent	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:8720516C>G	ENST00000534127.1	-	19	3289	c.2904G>C	c.(2902-2904)ctG>ctC	p.L968L	RP11-152H18.3_ENST00000529883.1_RNA|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000534278.1_Silent_p.L159L|ST5_ENST00000526099.1_Silent_p.L481L|ST5_ENST00000530438.1_Silent_p.L548L|ST5_ENST00000357665.1_Silent_p.L968L|ST5_ENST00000313726.6_Silent_p.L968L|ST5_ENST00000530991.1_Silent_p.L440L|ST5_ENST00000526757.1_Silent_p.L548L	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	968	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GATTCACCATCAGCGCCTGAG	0.577																																																	0													131.0	122.0	125.0					11																	8720516		2201	4296	6497	SO:0001819	synonymous_variant	6764			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.2904G>C	11.37:g.8720516C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Silent	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.L968	ENST00000534127.1	37	c.2904	CCDS7791.1	11																																																																																			ST5	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.577	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ST5	HGNC	protein_coding	OTTHUMT00000386518.1	C	NM_005418		8720516	-1	no_errors	ENST00000313726	ensembl	human	known	70_37	silent	SNP	1.000	G
STON2	85439	genome.wustl.edu	37	14	81862321	81862321	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr14:81862321G>A	ENST00000267540.2	-	2	490	c.290C>T	c.(289-291)tCg>tTg	p.S97L	STON2_ENST00000555447.1_Missense_Mutation_p.S97L	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	97					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		GCTGATGGCCGAGGCCAGGTC	0.587																																																	0													89.0	92.0	91.0					14																	81862321		2203	4300	6503	SO:0001583	missense	85439			AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.290C>T	14.37:g.81862321G>A	ENSP00000267540:p.Ser97Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Missense_Mutation	SNP	pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD	p.S97L	ENST00000267540.2	37	c.290	CCDS9875.1	14	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119143	0.56505	.	.	ENSG00000140022	ENST00000555447;ENST00000546306;ENST00000267540	T;T	0.55234	0.53;0.53	5.82	3.95	0.45737	Stonin-2, N-terminal (1);	0.316995	0.27535	N	0.018927	T	0.45155	0.1328	L	0.59436	1.845	0.30371	N	0.782853	P;B;B	0.34757	0.467;0.291;0.412	B;B;B	0.30782	0.12;0.089;0.073	T	0.49428	-0.8941	10	0.45353	T	0.12	-3.6678	9.6223	0.39730	0.1704:0.0:0.8296:0.0	.	97;97;97	Q8WXE9;Q17R23;G3V2T7	STON2_HUMAN;.;.	L	97;109;97	ENSP00000450857:S97L;ENSP00000267540:S97L	ENSP00000267540:S97L	S	-	2	0	STON2	80932074	0.964000	0.33143	0.640000	0.29408	0.910000	0.53928	1.596000	0.36718	0.753000	0.32945	0.655000	0.94253	TCG	STON2	-	pfam_Stonin2_N,pirsf_Stonin		0.587	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	STON2	HGNC	protein_coding	OTTHUMT00000413317.1	G	NM_033104		81862321	-1	no_errors	ENST00000267540	ensembl	human	known	70_37	missense	SNP	0.893	A
STX7	8417	genome.wustl.edu	37	6	132781956	132781956	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:132781956G>C	ENST00000367941.2	-	10	840	c.727C>G	c.(727-729)Ctt>Gtt	p.L243V		NM_003569.2	NP_003560.2	O15400	STX7_HUMAN	syntaxin 7	243					intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|perinuclear region of cytoplasm (GO:0048471)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		ACAAGGATAAGAATGATGATG	0.383																																																	0													147.0	133.0	138.0					6																	132781956		2203	4300	6503	SO:0001583	missense	8417			U77942	CCDS5153.1	6q23.1	2008-02-05			ENSG00000079950	ENSG00000079950			11442	protein-coding gene	gene with protein product		603217				9358037	Standard	NM_003569		Approved		uc003qdg.2	O15400	OTTHUMG00000015577	ENST00000367941.2:c.727C>G	6.37:g.132781956G>C	ENSP00000356918:p.Leu243Val	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P579|Q5SZW2|Q96ES9	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.L243V	ENST00000367941.2	37	c.727	CCDS5153.1	6	.	.	.	.	.	.	.	.	.	.	G	0.736	-0.778205	0.02929	.	.	ENSG00000079950	ENST00000367941;ENST00000448348;ENST00000309255	T;T	0.39229	1.09;1.09	5.84	0.756	0.18421	.	1.269810	0.04650	N	0.406991	T	0.08492	0.0211	L	0.31804	0.96	0.28727	N	0.902723	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.09250	-1.0683	10	0.10636	T	0.68	1.6566	1.6202	0.02712	0.4229:0.2373:0.2303:0.1094	.	68;243	B4DWC2;O15400	.;STX7_HUMAN	V	243;243;198	ENSP00000356918:L243V;ENSP00000412202:L243V	ENSP00000309600:L198V	L	-	1	0	STX7	132823649	0.005000	0.15991	0.149000	0.22428	0.084000	0.17831	-0.044000	0.12023	-0.088000	0.12506	-1.284000	0.01376	CTT	STX7	-	NULL		0.383	STX7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STX7	HGNC	protein_coding	OTTHUMT00000042252.2	G			132781956	-1	no_errors	ENST00000367941	ensembl	human	known	70_37	missense	SNP	0.136	C
SUFU	51684	genome.wustl.edu	37	10	104309818	104309818	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:104309818C>T	ENST00000369902.3	+	3	575	c.409C>T	c.(409-411)Ccc>Tcc	p.P137S	SUFU_ENST00000423559.2_Missense_Mutation_p.P137S|SUFU_ENST00000369899.2_Missense_Mutation_p.P137S	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	137					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ACCAACATGGCCCGCAGAGTT	0.542			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																														yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	0													117.0	108.0	111.0					10																	104309818		2203	4300	6503	SO:0001583	missense	51684	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.409C>T	10.37:g.104309818C>T	ENSP00000358918:p.Pro137Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Missense_Mutation	SNP	pfam_SUFU_C,pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein	p.P137S	ENST00000369902.3	37	c.409	CCDS7537.1	10	.	.	.	.	.	.	.	.	.	.	C	31	5.059559	0.93846	.	.	ENSG00000107882	ENST00000369902;ENST00000369899;ENST00000423559	D;D;D	0.85629	-2.01;-2.01;-2.01	5.24	5.24	0.73138	Suppressor of fused domain (1);	0.000000	0.85682	D	0.000000	D	0.94185	0.8134	M	0.91038	3.17	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	0.95097	0.8227	10	0.66056	D	0.02	-7.0606	18.8243	0.92111	0.0:1.0:0.0:0.0	.	137;137;137	Q9UMX1;Q9UMX1-2;Q9UMX1-3	SUFU_HUMAN;.;.	S	137	ENSP00000358918:P137S;ENSP00000358915:P137S;ENSP00000411597:P137S	ENSP00000358915:P137S	P	+	1	0	SUFU	104299808	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.478000	0.81082	2.461000	0.83175	0.561000	0.74099	CCC	SUFU	-	pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein		0.542	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUFU	HGNC	protein_coding	OTTHUMT00000050089.1	C	NM_016169		104309818	+1	no_errors	ENST00000369902	ensembl	human	known	70_37	missense	SNP	1.000	T
SYNPO2	171024	genome.wustl.edu	37	4	119951944	119951944	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:119951944G>C	ENST00000429713.2	+	4	2196	c.2014G>C	c.(2014-2016)Gag>Cag	p.E672Q	SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E672Q|SYNPO2_ENST00000307142.4_Missense_Mutation_p.E672Q	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	672						actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TTCCCGAGATGAGAGGATCTC	0.532																																																	0													71.0	77.0	75.0					4																	119951944		2203	4300	6503	SO:0001583	missense	171024			AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.2014G>C	4.37:g.119951944G>C	ENSP00000395143:p.Glu672Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E672Q	ENST00000429713.2	37	c.2014	CCDS47129.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.29|15.29	2.788839|2.788839	0.49997|0.49997	.|.	.|.	ENSG00000172403|ENSG00000172403	ENST00000307142;ENST00000429713;ENST00000434046|ENST00000504178	T;T;T|.	0.10099|.	2.91;2.98;2.96|.	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.000000|.	0.64402|.	D|.	0.000006|.	T|.	0.72890|.	0.3517|.	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	P;D;P;D|.	0.89917|.	0.876;0.995;0.876;1.0|.	P;D;P;D|.	0.83275|.	0.807;0.909;0.807;0.996|.	T|.	0.72947|.	-0.4137|.	9|.	.|.	.|.	.|.	-25.1648|-25.1648	14.3138|14.3138	0.66434|0.66434	0.0:0.1484:0.8516:0.0|0.0:0.1484:0.8516:0.0	.|.	672;672;672;672|.	B9EG60;Q9UMS6-2;E9PEM2;Q9UMS6|.	.;.;.;SYNP2_HUMAN|.	Q|S	672|623	ENSP00000306015:E672Q;ENSP00000395143:E672Q;ENSP00000390965:E672Q|.	.|.	E|X	+|+	1|2	0|2	SYNPO2|SYNPO2	120171392|120171392	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.774000|0.774000	0.43823|0.43823	6.514000|6.514000	0.73746|0.73746	2.413000|2.413000	0.81919|0.81919	0.655000|0.655000	0.94253|0.94253	GAG|TGA	SYNPO2	-	NULL		0.532	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	SYNPO2	HGNC	protein_coding	OTTHUMT00000364020.1	G			119951944	+1	no_errors	ENST00000307142	ensembl	human	known	70_37	missense	SNP	1.000	C
SYTL2	54843	genome.wustl.edu	37	11	85435165	85435165	+	Intron	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:85435165C>T	ENST00000528231.1	-	8	1737				SYTL2_ENST00000525423.1_Missense_Mutation_p.E779K|SYTL2_ENST00000359152.5_Missense_Mutation_p.E1303K|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.E779K|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000527523.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TCCTCTTTCTCTTGTTTCATA	0.388																																																	0													92.0	95.0	94.0					11																	85435165		2203	4299	6502	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1460-3163G>A	11.37:g.85435165C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.E1303K	ENST00000528231.1	37	c.3907	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025719	0.35701	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423;ENST00000530351	T;T;T;T	0.41400	1.4;1.38;1.38;1.0	5.53	3.23	0.37069	.	0.874073	0.10222	N	0.700828	T	0.26048	0.0635	L	0.34521	1.04	0.27660	N	0.947105	B;B;B	0.28850	0.225;0.225;0.225	B;B;B	0.18561	0.022;0.022;0.022	T	0.15065	-1.0450	9	.	.	.	0.0115	3.5218	0.07745	0.0:0.5501:0.2688:0.1811	.	779;779;779	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	K	1303;779;779;198	ENSP00000352065:E1303K;ENSP00000346576:E779K;ENSP00000432694:E779K;ENSP00000435009:E198K	.	E	-	1	0	SYTL2	85112813	0.784000	0.28713	0.983000	0.44433	0.477000	0.33069	0.921000	0.28718	1.428000	0.47296	0.650000	0.86243	GAG	SYTL2	-	NULL		0.388	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	C	NM_206927		85435165	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	missense	SNP	0.853	T
TACC3	10460	genome.wustl.edu	37	4	1746446	1746446	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:1746446G>T	ENST00000313288.4	+	15	2444	c.2338G>T	c.(2338-2340)Gag>Tag	p.E780*		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	780					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.E780delE(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGGGCAAACGAGGAGATCGC	0.682																																					Ovarian(120;482 2294 11894 35824)												1	Deletion - In frame(1)	prostate(1)											18.0	21.0	20.0					4																	1746446		2201	4298	6499	SO:0001587	stop_gained	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.2338G>T	4.37:g.1746446G>T	ENSP00000326550:p.Glu780*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2NKK4|Q3KQS5|Q9UMQ1	Nonsense_Mutation	SNP	pfam_TACC	p.E780*	ENST00000313288.4	37	c.2338	CCDS3352.1	4	.	.	.	.	.	.	.	.	.	.	G	39	7.576866	0.98368	.	.	ENSG00000013810	ENST00000313288	.	.	.	5.21	4.38	0.52667	.	0.000000	0.53938	D	0.000049	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-45.7571	13.5232	0.61580	0.0758:0.0:0.9242:0.0	.	.	.	.	X	780	.	ENSP00000326550:E780X	E	+	1	0	TACC3	1716244	1.000000	0.71417	0.893000	0.35052	0.616000	0.37450	5.921000	0.70028	1.439000	0.47511	-0.136000	0.14681	GAG	TACC3	-	pfam_TACC		0.682	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACC3	HGNC	protein_coding	OTTHUMT00000203730.2	G			1746446	+1	no_errors	ENST00000313288	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TAF15	8148	genome.wustl.edu	37	17	34171813	34171813	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:34171813G>C	ENST00000588240.1	+	15	1625	c.1510G>C	c.(1510-1512)Gat>Cat	p.D504H	TAF15_ENST00000592237.1_Intron|TAF15_ENST00000311979.3_Missense_Mutation_p.D501H	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q16514	TAF12_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0					chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of RNA biosynthetic process (GO:2001141)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ctatggaggagatcgaggagg	0.602			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""																																			Dom	yes		17	17q11.1-q11.2	8148	"""TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa"""		"""L, M"""	0													82.0	71.0	75.0					17																	34171813		2203	4300	6503	SO:0001583	missense	8148			U51334	CCDS32623.1, CCDS59279.1	17q11.1-q11.2	2013-02-12	2002-08-29	2001-12-07		ENSG00000270647		"""RNA binding motif (RRM) containing"""	11547	protein-coding gene	gene with protein product		601574	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, N, 68kD (RNA-binding protein 56)"""	TAF2N		8954779, 9795213	Standard	NM_003487		Approved	hTAFII68, RBP56, Npl3	uc002hkd.4	Q92804		ENST00000588240.1:c.1510G>C	17.37:g.34171813G>C	ENSP00000466950:p.Asp504His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPM5|Q15775|Q5T077	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom	p.D504H	ENST00000588240.1	37	c.1510	CCDS32623.1	17	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115654	0.37339	.	.	ENSG00000172660	ENST00000311979;ENST00000536077	.	.	.	4.4	4.4	0.53042	.	.	.	.	.	T	0.50803	0.1637	N	0.22421	0.69	0.32171	N	0.581671	D;D	0.89917	0.999;1.0	P;D	0.68353	0.907;0.957	T	0.57923	-0.7727	8	0.87932	D	0	-3.8021	8.9827	0.35974	0.1056:0.0:0.8944:0.0	.	504;501	Q92804;Q92804-2	RBP56_HUMAN;.	H	504;307	.	ENSP00000309558:D504H	D	+	1	0	TAF15	31195926	1.000000	0.71417	0.898000	0.35279	0.609000	0.37215	3.248000	0.51430	2.380000	0.81148	0.591000	0.81541	GAT	TAF15	-	NULL		0.602	TAF15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF15	HGNC	protein_coding	OTTHUMT00000449134.1	G	NM_139215		34171813	+1	no_errors	ENST00000588240	ensembl	human	known	70_37	missense	SNP	0.997	C
TBC1D24	57465	genome.wustl.edu	37	16	2546389	2546389	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:2546389G>C	ENST00000293970.5	+	2	373	c.240G>C	c.(238-240)aaG>aaC	p.K80N	TBC1D24_ENST00000434757.2_Missense_Mutation_p.K80N|TBC1D24_ENST00000567020.1_Missense_Mutation_p.K80N|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.K80N	NM_001199107.1	NP_001186036.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	80	Rab-GAP TBC.				neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|terminal bouton (GO:0043195)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						TCGTGGGCAAGATCGTGGGCA	0.677																																																	0													48.0	56.0	53.0					16																	2546389		2165	4266	6431	SO:0001583	missense	57465			AB032997	CCDS42107.1, CCDS55980.1	16p13.3	2014-05-07				ENSG00000162065			29203	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 6"""	613577	"""deafness, autosomal recessive 86"""	DFNB86		10574461, 24387994, 24729539	Standard	NM_001199107		Approved	KIAA1171, TLDC6, DFNA65	uc002cql.3	Q9ULP9		ENST00000293970.5:c.240G>C	16.37:g.2546389G>C	ENSP00000293970:p.Lys80Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JNW3|B9A6M6|Q2KJ08	Missense_Mutation	SNP	pfam_TLDc,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,smart_TLDc	p.K80N	ENST00000293970.5	37	c.240	CCDS55980.1	16	.	.	.	.	.	.	.	.	.	.	G	13.56	2.273040	0.40194	.	.	ENSG00000162065	ENST00000293970;ENST00000434757	T;T	0.23754	1.89;1.89	5.6	4.65	0.58169	Rab-GAP/TBC domain (1);	0.092974	0.64402	D	0.000001	T	0.20740	0.0499	N	0.25890	0.77	0.46113	D	0.998875	B;B;B	0.24618	0.107;0.107;0.088	B;B;B	0.31390	0.129;0.129;0.079	T	0.04678	-1.0934	10	0.29301	T	0.29	-40.8254	13.1941	0.59728	0.0775:0.0:0.9225:0.0	.	80;80;80	B9A6M6;Q9ULP9;Q9ULP9-2	.;TBC24_HUMAN;.	N	80	ENSP00000293970:K80N;ENSP00000390106:K80N	ENSP00000293970:K80N	K	+	3	2	TBC1D24	2486390	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	2.839000	0.48207	1.378000	0.46305	0.549000	0.68633	AAG	TBC1D24	-	smart_Rab-GTPase-TBC_dom		0.677	TBC1D24-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D24	HGNC	protein_coding	OTTHUMT00000435637.1	G	NM_020705		2546389	+1	no_errors	ENST00000293970	ensembl	human	known	70_37	missense	SNP	1.000	C
TBC1D3C	414060	genome.wustl.edu	37	17	34581879	34581879	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:34581879G>A	ENST00000457979.3	-	14	1320	c.1171C>T	c.(1171-1173)Cca>Tca	p.P391S	TBC1D3H_ENST00000535446.1_Missense_Mutation_p.P311S|TBC1D3C_ENST00000308078.7_Missense_Mutation_p.P391S|TBC1D3C_ENST00000451448.2_Missense_Mutation_p.P369S|TBC1D3H_ENST00000400684.4_Missense_Mutation_p.P311S|TBC1D3C_ENST00000336331.5_Missense_Mutation_p.P369S	NM_001001418.4	NP_001001418.4	Q6IPX1	TBC3C_HUMAN	TBC1 domain family, member 3C	391						plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			kidney(5)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGTGGGCCTGGAGGGGCCTGC	0.667																																																	0													3.0	2.0	3.0					17																	34581879		280	401	681	SO:0001583	missense	414060			BC033670	CCDS74045.1	17q12	2014-09-16				ENSG00000274933			24889	protein-coding gene	gene with protein product		610806				12359748, 16863688	Standard	XM_005257981		Approved	MGC44903	uc002hlk.2	Q6IPX1	OTTHUMG00000188484	ENST00000457979.3:c.1171C>T	17.37:g.34581879G>A	ENSP00000390761:p.Pro391Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.P391S	ENST00000457979.3	37	c.1171	CCDS11309.2	17	.	.	.	.	.	.	.	.	.	.	-	10.85	1.465539	0.26335	.	.	ENSG00000234972;ENSG00000234972;ENSG00000234972;ENSG00000234972;ENSG00000242384;ENSG00000242384	ENST00000308078;ENST00000457979;ENST00000336331;ENST00000451448;ENST00000535446;ENST00000400684	T;T;T;T;T;T	0.20598	2.83;2.83;2.06;2.06;2.64;2.64	0.118	0.118	0.14667	.	0.996321	0.08117	U	0.995336	T	0.16557	0.0398	L	0.29908	0.895	0.09310	N	1	P;P;P	0.43477	0.808;0.709;0.709	B;B;B	0.43018	0.405;0.328;0.328	T	0.24119	-1.0169	9	0.48119	T	0.1	.	.	.	.	.	311;391;391	F5GWQ9;Q6IPX1;A6NI40	.;TBC3C_HUMAN;TB3L2_HUMAN	S	391;391;369;369;311;311	ENSP00000308718:P391S;ENSP00000390761:P391S;ENSP00000337671:P369S;ENSP00000399291:P369S;ENSP00000441721:P311S;ENSP00000383522:P311S	ENSP00000308718:P391S	P	-	1	0	TBC1D3C;TBC1D3H	31605992	0.014000	0.17966	0.090000	0.20809	0.092000	0.18411	1.317000	0.33631	0.191000	0.20236	0.194000	0.17425	CCA	TBC1D3C	-	NULL		0.667	TBC1D3C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D3C	HGNC	protein_coding	OTTHUMT00000256090.2	G	NM_001001418		34581879	-1	no_errors	ENST00000308078	ensembl	human	known	70_37	missense	SNP	0.099	A
TBP	6908	genome.wustl.edu	37	6	170871055	170871055	+	Silent	SNP	G	G	A	rs112928724|rs369312237		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:170871055G>A	ENST00000392092.2	+	3	510	c.231G>A	c.(229-231)caG>caA	p.Q77Q	TBP_ENST00000230354.6_Silent_p.Q77Q|TBP_ENST00000540980.1_Silent_p.Q57Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	77	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		aacagcagcagcagcagcagc	0.572																																																	0													14.0	18.0	17.0					6																	170871055		1934	3804	5738	SO:0001819	synonymous_variant	6908			M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.231G>A	6.37:g.170871055G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	pfam_TBP,prints_TBP	p.Q77	ENST00000392092.2	37	c.231	CCDS5315.1	6																																																																																			TBP	-	NULL		0.572	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBP	HGNC	protein_coding	OTTHUMT00000043271.2	G	NM_003194		170871055	+1	no_errors	ENST00000230354	ensembl	human	known	70_37	silent	SNP	0.993	A
TET1	80312	genome.wustl.edu	37	10	70426846	70426846	+	Silent	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr10:70426846C>T	ENST00000373644.4	+	7	4715	c.4506C>T	c.(4504-4506)gtC>gtT	p.V1502V		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1502					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTTGTTTGGTCCGGCAGCGTA	0.458																																																	0													106.0	98.0	101.0					10																	70426846		2203	4300	6503	SO:0001819	synonymous_variant	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4506C>T	10.37:g.70426846C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Silent	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.V1502	ENST00000373644.4	37	c.4506	CCDS7281.1	10																																																																																			TET1	-	NULL		0.458	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	C	NM_030625		70426846	+1	no_errors	ENST00000373644	ensembl	human	known	70_37	silent	SNP	0.973	T
TEX29	121793	genome.wustl.edu	37	13	111973291	111973291	+	Silent	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr13:111973291C>T	ENST00000283547.1	+	2	183	c.54C>T	c.(52-54)ttC>ttT	p.F18F		NM_152324.1	NP_689537.1	Q8N6K0	TEX29_HUMAN	testis expressed 29	18						integral component of membrane (GO:0016021)											TGAAGCAATTCACAGGTATGG	0.637																																																	0													49.0	52.0	51.0					13																	111973291		2203	4300	6503	SO:0001819	synonymous_variant	121793			BC029889	CCDS9522.1	13q34	2012-03-23	2012-02-07	2012-02-07	ENSG00000153495	ENSG00000153495			20370	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 16"""	C13orf16			Standard	NM_152324		Approved	bA474D23.1, MGC35169	uc001vsa.3	Q8N6K0	OTTHUMG00000017358	ENST00000283547.1:c.54C>T	13.37:g.111973291C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.F18	ENST00000283547.1	37	c.54	CCDS9522.1	13																																																																																			TEX29	-	NULL		0.637	TEX29-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX29	HGNC	protein_coding	OTTHUMT00000045812.2	C	NM_152324		111973291	+1	no_errors	ENST00000283547	ensembl	human	known	70_37	silent	SNP	0.885	T
THADA	63892	genome.wustl.edu	37	2	43655350	43655350	+	Missense_Mutation	SNP	C	C	T	rs200421057		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:43655350C>T	ENST00000405006.4	-	28	4298	c.3947G>A	c.(3946-3948)cGt>cAt	p.R1316H	THADA_ENST00000405975.2_Missense_Mutation_p.R1316H|THADA_ENST00000330266.7_Missense_Mutation_p.R1026H|THADA_ENST00000415080.2_Missense_Mutation_p.R997H|THADA_ENST00000485353.1_5'UTR	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1316										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCTTGGATGACGATTTGGTTC	0.413																																																	0													94.0	93.0	93.0					2																	43655350		2000	4175	6175	SO:0001583	missense	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.3947G>A	2.37:g.43655350C>T	ENSP00000385995:p.Arg1316His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.R1316H	ENST00000405006.4	37	c.3947	CCDS46268.1	2	.	.	.	.	.	.	.	.	.	.	C	17.37	3.373435	0.61624	.	.	ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000415080;ENST00000405006	T;T;T;T	0.73152	1.52;-0.72;-0.63;-0.72	5.65	0.455	0.16649	Armadillo-type fold (1);	0.264989	0.37530	N	0.002041	T	0.63462	0.2513	L	0.58101	1.795	0.18873	N	0.999985	D;D;D	0.67145	0.996;0.992;0.99	P;B;B	0.48030	0.564;0.361;0.374	T	0.55617	-0.8113	10	0.36615	T	0.2	.	4.1337	0.10160	0.2354:0.4338:0.0:0.3309	.	995;997;1316	Q6YHU6-2;C9JJB1;Q6YHU6	.;.;THADA_HUMAN	H	1026;1316;997;1316	ENSP00000331105:R1026H;ENSP00000386088:R1316H;ENSP00000416048:R997H;ENSP00000385995:R1316H	ENSP00000331105:R1026H	R	-	2	0	THADA	43508854	0.665000	0.27466	0.002000	0.10522	0.151000	0.21798	1.165000	0.31822	0.188000	0.20168	-0.140000	0.14226	CGT	THADA	-	superfamily_ARM-type_fold		0.413	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	C	NM_022065		43655350	-1	no_errors	ENST00000405006	ensembl	human	known	70_37	missense	SNP	0.257	T
TGOLN2	10618	genome.wustl.edu	37	2	85555056	85555056	+	Silent	SNP	C	C	T	rs568744405		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:85555056C>T	ENST00000409232.3	-	1	91	c.30G>A	c.(28-30)ctG>ctA	p.L10L	TGOLN2_ENST00000377386.3_Silent_p.L10L|TGOLN2_ENST00000282120.2_Silent_p.L10L|TGOLN2_ENST00000444342.2_Silent_p.L10L|TGOLN2_ENST00000409015.1_Silent_p.L10L|TGOLN2_ENST00000398263.2_Silent_p.L10L			O43493	TGON2_HUMAN	trans-golgi network protein 2	10			L -> V (in dbSNP:rs1128140). {ECO:0000269|PubMed:9422759}.			Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)		p.L10L(1)									CTGCGACGTTCAGGAGGACCA	0.652																																																	1	Substitution - coding silent(1)	prostate(1)											27.0	34.0	31.0					2																	85555056		2034	4166	6200	SO:0001819	synonymous_variant	10618			AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.30G>A	2.37:g.85555056C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	NULL	p.L10	ENST00000409232.3	37	c.30	CCDS56126.1	2																																																																																			TGOLN2	-	NULL		0.652	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TGOLN2	HGNC	protein_coding	OTTHUMT00000329045.2	C	NM_006464		85555056	-1	no_errors	ENST00000377386	ensembl	human	known	70_37	silent	SNP	0.151	T
TIGD4	201798	genome.wustl.edu	37	4	153691340	153691340	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:153691340C>G	ENST00000304337.2	-	2	1637	c.817G>C	c.(817-819)Gat>Cat	p.D273H		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	273	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					AATTCCTCATCAAGCTTTCGC	0.393																																																	0													127.0	133.0	131.0					4																	153691340		2203	4300	6503	SO:0001583	missense	201798			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.817G>C	4.37:g.153691340C>G	ENSP00000355162:p.Asp273His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96LP5	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.D273H	ENST00000304337.2	37	c.817	CCDS34079.1	4	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042185	0.55003	.	.	ENSG00000169989	ENST00000304337	T	0.51574	0.7	6.03	6.03	0.97812	.	0.000000	0.51477	D	0.000086	T	0.72993	0.3530	M	0.81942	2.565	0.47183	D	0.999345	D	0.89917	1.0	D	0.87578	0.998	T	0.74231	-0.3732	10	0.72032	D	0.01	-29.2392	20.1672	0.98154	0.0:1.0:0.0:0.0	.	273	Q8IY51	TIGD4_HUMAN	H	273	ENSP00000355162:D273H	ENSP00000355162:D273H	D	-	1	0	TIGD4	153910790	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.463000	0.66712	2.861000	0.98227	0.655000	0.94253	GAT	TIGD4	-	pfam_DDE_SF_endonuclease_CENPB-like		0.393	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD4	HGNC	protein_coding	OTTHUMT00000365028.1	C	NM_145720		153691340	-1	no_errors	ENST00000304337	ensembl	human	known	70_37	missense	SNP	1.000	G
TIGD4	201798	genome.wustl.edu	37	4	153692024	153692024	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:153692024C>T	ENST00000304337.2	-	2	953	c.133G>A	c.(133-135)Gaa>Aaa	p.E45K		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	45	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					ATTCCATATTCAGCAGCAATC	0.338																																																	0													90.0	89.0	90.0					4																	153692024		2203	4300	6503	SO:0001583	missense	201798			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.133G>A	4.37:g.153692024C>T	ENSP00000355162:p.Glu45Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96LP5	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.E45K	ENST00000304337.2	37	c.133	CCDS34079.1	4	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675603	0.29783	.	.	ENSG00000169989	ENST00000304337	T	0.47528	0.84	6.17	5.23	0.72850	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.118480	0.38381	N	0.001710	T	0.31857	0.0810	L	0.40543	1.245	0.41711	D	0.989454	B	0.12013	0.005	B	0.12156	0.007	T	0.19614	-1.0300	10	0.12103	T	0.63	-33.295	5.3424	0.15990	0.0:0.8032:0.0:0.1968	.	45	Q8IY51	TIGD4_HUMAN	K	45	ENSP00000355162:E45K	ENSP00000355162:E45K	E	-	1	0	TIGD4	153911474	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.765000	0.38481	2.941000	0.99782	0.655000	0.94253	GAA	TIGD4	-	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq		0.338	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD4	HGNC	protein_coding	OTTHUMT00000365028.1	C	NM_145720		153692024	-1	no_errors	ENST00000304337	ensembl	human	known	70_37	missense	SNP	1.000	T
TIGD4	201798	genome.wustl.edu	37	4	153692036	153692036	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:153692036C>T	ENST00000304337.2	-	2	941	c.121G>A	c.(121-123)Gag>Aag	p.E41K		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	41	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					GCAGCAATCTCTGCTTTTTTC	0.353																																																	0													107.0	105.0	106.0					4																	153692036		2203	4300	6503	SO:0001583	missense	201798			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.121G>A	4.37:g.153692036C>T	ENSP00000355162:p.Glu41Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96LP5	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.E41K	ENST00000304337.2	37	c.121	CCDS34079.1	4	.	.	.	.	.	.	.	.	.	.	C	19.96	3.922894	0.73213	.	.	ENSG00000169989	ENST00000304337	T	0.47177	0.85	6.17	6.17	0.99709	Homeodomain-related (1);Homeodomain-like (1);Helix-turn-helix, Psq-like (1);Centromere protein Cenp-B, DNA-binding domain 1 (1);	0.000000	0.52532	D	0.000079	T	0.52403	0.1732	L	0.42245	1.32	0.47214	D	0.999358	P	0.49185	0.92	P	0.50860	0.652	T	0.27226	-1.0080	10	0.23891	T	0.37	-22.6089	18.6676	0.91497	0.0:1.0:0.0:0.0	.	41	Q8IY51	TIGD4_HUMAN	K	41	ENSP00000355162:E41K	ENSP00000355162:E41K	E	-	1	0	TIGD4	153911486	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.822000	0.62686	2.941000	0.99782	0.655000	0.94253	GAG	TIGD4	-	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq		0.353	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD4	HGNC	protein_coding	OTTHUMT00000365028.1	C	NM_145720		153692036	-1	no_errors	ENST00000304337	ensembl	human	known	70_37	missense	SNP	1.000	T
TMC6	11322	genome.wustl.edu	37	17	76117780	76117780	+	Missense_Mutation	SNP	C	C	T	rs536179551		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:76117780C>T	ENST00000590602.1	-	11	1399	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K	TMC6_ENST00000306591.7_Intron|TMC6_ENST00000589553.1_Missense_Mutation_p.E187K|TMC6_ENST00000392467.3_Missense_Mutation_p.E414K|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322914.3_Missense_Mutation_p.E414K|TMC6_ENST00000591436.1_Missense_Mutation_p.E53K|TMC6_ENST00000322933.4_Missense_Mutation_p.E53K			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	414					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTGCCACTCGGCCAGCAGC	0.687													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15809	0.0		0.0	False		,,,				2504	0.0																0													8.0	10.0	9.0					17																	76117780		2021	4012	6033	SO:0001583	missense	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1240G>A	17.37:g.76117780C>T	ENSP00000465261:p.Glu414Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	pfam_TMC	p.E414K	ENST00000590602.1	37	c.1240	CCDS32748.1	17	.	.	.	.	.	.	.	.	.	.	C	17.55	3.417514	0.62622	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933	T;T;T	0.61742	0.08;0.08;0.08	4.36	4.36	0.52297	.	0.177321	0.34531	N	0.003895	T	0.72606	0.3481	M	0.79123	2.44	0.34921	D	0.748401	D;D;D;D	0.76494	0.999;0.976;0.992;0.995	D;B;P;P	0.62955	0.909;0.432;0.705;0.738	T	0.82729	-0.0313	10	0.72032	D	0.01	-20.579	12.5541	0.56244	0.0:0.8328:0.1672:0.0	.	187;414;414;53	Q7Z403-4;B3KTU5;Q7Z403;Q7Z403-3	.;.;TMC6_HUMAN;.	K	414;414;53	ENSP00000313408:E414K;ENSP00000376260:E414K;ENSP00000313479:E53K	ENSP00000313408:E414K	E	-	1	0	TMC6	73629375	0.871000	0.30034	0.962000	0.40283	0.040000	0.13550	2.895000	0.48648	1.955000	0.56771	0.313000	0.20887	GAG	TMC6	-	NULL		0.687	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	C			76117780	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	missense	SNP	0.993	T
TMC6	11322	genome.wustl.edu	37	17	76117792	76117792	+	Splice_Site	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:76117792C>G	ENST00000590602.1	-	11	1387	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	TMC6_ENST00000306591.7_Intron|TMC6_ENST00000589553.1_Splice_Site_p.E183Q|TMC6_ENST00000392467.3_Splice_Site_p.E410Q|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000322914.3_Splice_Site_p.E410Q|TMC6_ENST00000591436.1_Splice_Site_p.E49Q|TMC6_ENST00000322933.4_Splice_Site_p.E49Q			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	410					ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCCAGCAGCTCCTGCAGGCGG	0.672																																																	0													9.0	10.0	9.0					17																	76117792		2129	4156	6285	SO:0001630	splice_region_variant	11322			AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.1228-1G>C	17.37:g.76117792C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	pfam_TMC	p.E410Q	ENST00000590602.1	37	c.1228	CCDS32748.1	17	.	.	.	.	.	.	.	.	.	.	C	15.80	2.939194	0.52972	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000322933	T;T;T	0.54675	0.56;0.56;0.56	4.36	4.36	0.52297	.	0.231325	0.43919	D	0.000520	T	0.71702	0.3371	M	0.79693	2.465	0.34769	D	0.733502	D;D;D;D	0.89917	1.0;1.0;0.999;0.996	D;D;D;P	0.97110	1.0;0.996;0.978;0.836	T	0.81906	-0.0718	10	0.72032	D	0.01	-32.4766	11.8757	0.52546	0.174:0.826:0.0:0.0	.	183;410;410;49	Q7Z403-4;B3KTU5;Q7Z403;Q7Z403-3	.;.;TMC6_HUMAN;.	Q	410;410;49	ENSP00000313408:E410Q;ENSP00000376260:E410Q;ENSP00000313479:E49Q	ENSP00000313408:E410Q	E	-	1	0	TMC6	73629387	1.000000	0.71417	1.000000	0.80357	0.043000	0.13939	4.695000	0.61767	1.955000	0.56771	0.313000	0.20887	GAG	TMC6	-	NULL		0.672	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TMC6	HGNC	protein_coding	OTTHUMT00000437146.1	C		Missense_Mutation	76117792	-1	no_errors	ENST00000322914	ensembl	human	known	70_37	missense	SNP	1.000	G
TANGO6	79613	genome.wustl.edu	37	16	69117451	69117451	+	Missense_Mutation	SNP	G	G	A	rs369656531		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:69117451G>A	ENST00000261778.1	+	18	3184	c.3172G>A	c.(3172-3174)Gat>Aat	p.D1058N	TANGO6_ENST00000561931.1_3'UTR	NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	1058						integral component of membrane (GO:0016021)											TCTGGAGCCCGATGACGTGGC	0.547																																																	0								G	ASN/ASP	0,4116		0,0,2058	55.0	60.0	58.0		3172	5.7	1.0	16		58	1,8405		0,1,4202	no	missense	TMCO7	NM_024562.1	23	0,1,6260	AA,AG,GG		0.0119,0.0,0.0080	probably-damaging	1058/1095	69117451	1,12521	2058	4203	6261	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.3172G>A	16.37:g.69117451G>A	ENSP00000261778:p.Asp1058Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2411,superfamily_ARM-type_fold	p.D1058N	ENST00000261778.1	37	c.3172	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	G	36	5.693941	0.96793	0.0	1.19E-4	ENSG00000103047	ENST00000261778	T	0.67345	-0.26	5.74	5.74	0.90152	Domain of unknown function DUF2411 (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81791	0.4897	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81777	-0.0777	10	0.66056	D	0.02	-17.9183	19.8931	0.96937	0.0:0.0:1.0:0.0	.	1058	Q9C0B7	TMCO7_HUMAN	N	1058	ENSP00000261778:D1058N	ENSP00000261778:D1058N	D	+	1	0	TMCO7	67674952	1.000000	0.71417	0.990000	0.47175	0.890000	0.51754	8.725000	0.91468	2.873000	0.98535	0.563000	0.77884	GAT	TMCO7	-	pfam_DUF2411,superfamily_ARM-type_fold		0.547	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO7	HGNC	protein_coding	OTTHUMT00000433471.2	G	XM_928235.2		69117451	+1	no_errors	ENST00000261778	ensembl	human	known	70_37	missense	SNP	1.000	A
TMTC1	83857	genome.wustl.edu	37	12	29936562	29936562	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:29936562G>T	ENST00000539277.1	-	1	181	c.123C>A	c.(121-123)taC>taA	p.Y41*	TMTC1_ENST00000381224.2_Intron|TMTC1_ENST00000552618.1_Nonsense_Mutation_p.Y41*|TMTC1_ENST00000256062.5_Intron|TMTC1_ENST00000551659.1_Nonsense_Mutation_p.Y41*	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	41						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GGGAGCGGCCGTAGCACAGGC	0.776																																																	0																																										SO:0001587	stop_gained	83857				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.123C>A	12.37:g.29936562G>T	ENSP00000442046:p.Tyr41*	Somatic		WXS	Illumina HiSeq	Phase_IV	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Nonsense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Y41*	ENST00000539277.1	37	c.123	CCDS53772.1	12	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968377	0.92855	.	.	ENSG00000133687	ENST00000551659;ENST00000552618;ENST00000539277	.	.	.	3.11	1.17	0.20885	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.7996	0.29166	0.2256:0.0:0.7744:0.0	.	.	.	.	X	41	.	.	Y	-	3	2	TMTC1	29827829	1.000000	0.71417	0.998000	0.56505	0.010000	0.07245	3.470000	0.53100	0.512000	0.28257	-0.350000	0.07774	TAC	TMTC1	-	NULL		0.776	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	TMTC1	HGNC	protein_coding	OTTHUMT00000403509.1	G	NM_031920		29936562	-1	no_errors	ENST00000539277	ensembl	human	putative	70_37	nonsense	SNP	1.000	T
TNS1	7145	genome.wustl.edu	37	2	218700857	218700857	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:218700857C>G	ENST00000171887.4	-	18	3162	c.2710G>C	c.(2710-2712)Gag>Cag	p.E904Q	TNS1_ENST00000430930.1_Missense_Mutation_p.E904Q|TNS1_ENST00000419504.1_Missense_Mutation_p.E904Q	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	904					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GACTGGTTCTCATACTGTCCA	0.637																																																	0													69.0	68.0	68.0					2																	218700857		2203	4300	6503	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.2710G>C	2.37:g.218700857C>G	ENSP00000171887:p.Glu904Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.E904Q	ENST00000171887.4	37	c.2710	CCDS2407.1	2	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679844	0.47886	.	.	ENSG00000079308	ENST00000171887;ENST00000446688;ENST00000419504;ENST00000430930	D;T;D;D	0.91407	-2.84;2.21;-2.79;-2.82	5.38	5.38	0.77491	.	0.962661	0.08702	N	0.906329	D	0.89051	0.6605	N	0.12746	0.255	0.80722	D	1	B;D;B	0.57899	0.361;0.981;0.361	B;P;B	0.55055	0.069;0.767;0.07	T	0.83060	-0.0148	10	0.18276	T	0.48	.	18.0736	0.89421	0.0:1.0:0.0:0.0	.	904;904;904	Q9HBL0;E9PGF5;E9PF55	TENS1_HUMAN;.;.	Q	904;63;904;904	ENSP00000171887:E904Q;ENSP00000394171:E63Q;ENSP00000408724:E904Q;ENSP00000406016:E904Q	ENSP00000171887:E904Q	E	-	1	0	TNS1	218409102	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.212000	0.51145	2.793000	0.96121	0.655000	0.94253	GAG	TNS1	-	NULL		0.637	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	HGNC	protein_coding	OTTHUMT00000256672.2	C	NM_022648		218700857	-1	no_errors	ENST00000171887	ensembl	human	known	70_37	missense	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:7577568C>A	ENST00000269305.4	-	7	902	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000420246.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F	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	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)	GGAACTGTTACACATGTAGTT	0.572		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"""	158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	GRCh37	CM034930	TP53	M							132.0	103.0	113.0					17																	7577568		2203	4300	6503	SO:0001583	missense	7157	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.713G>T	17.37:g.7577568C>A	ENSP00000269305:p.Cys238Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	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.C238F	ENST00000269305.4	37	c.713	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.2	4.262614	0.80358	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99964	-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96;-9.96	4.09	4.09	0.47781	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	0.99972	0.9991	M	0.92970	3.365	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.95847	0.8871	10	0.87932	D	0	-18.536	14.6088	0.68501	0.0:1.0:0.0:0.0	.	238;238;145;238;238;238	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	F	238;238;238;238;238;238;227;145;106;145	ENSP00000410739:C238F;ENSP00000352610:C238F;ENSP00000269305:C238F;ENSP00000398846:C238F;ENSP00000391127:C238F;ENSP00000391478:C238F;ENSP00000425104:C106F;ENSP00000423862:C145F	ENSP00000269305:C238F	C	-	2	0	TP53	7518293	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	2.564000	0.86499	0.462000	0.41574	TGT	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7577568	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	missense	SNP	1.000	A
TPTEP1	387590	genome.wustl.edu	37	22	17119509	17119509	+	lincRNA	SNP	G	G	T	rs11089287		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr22:17119509G>T	ENST00000426585.1	+	0	321									transmembrane phosphatase with tensin homology pseudogene 1																		TGTCACTCTCGTCCTTGCCGA	0.323																																																	0																																												387590					22q11.1	2013-10-15			ENSG00000100181	ENSG00000100181			43648	pseudogene	pseudogene						14659893	Standard	NR_001591		Approved	psiTPTE22	uc002zlr.3		OTTHUMG00000141300		22.37:g.17119509G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000426585.1	37	NULL		22																																																																																			TPTEP1	-	-		0.323	TPTEP1-002	KNOWN	basic	lincRNA	TPTEP1	HGNC	lincRNA	OTTHUMT00000280575.1	G	NR_001591		17119509	+1	no_errors	ENST00000383140	ensembl	human	known	70_37	rna	SNP	0.000	T
TRAP1	10131	genome.wustl.edu	37	16	3708835	3708835	+	Missense_Mutation	SNP	G	G	A	rs139636268		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr16:3708835G>A	ENST00000246957.5	-	17	2060	c.1972C>T	c.(1972-1974)Cgc>Tgc	p.R658C	TRAP1_ENST00000538171.1_Missense_Mutation_p.R605C|DNASE1_ENST00000414110.2_Intron|TRAP1_ENST00000575671.1_Missense_Mutation_p.R449C	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	658					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TCGCTTGCGCGCAGCTGATTC	0.597																																																	0								G	CYS/ARG	1,4393	2.1+/-5.4	0,1,2196	38.0	37.0	37.0		1972	2.0	0.0	16	dbSNP_134	37	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRAP1	NM_016292.2	180	0,2,6495	AA,AG,GG		0.0116,0.0228,0.0154	probably-damaging	658/705	3708835	2,12992	2197	4300	6497	SO:0001583	missense	10131			AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.1972C>T	16.37:g.3708835G>A	ENSP00000246957:p.Arg658Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Missense_Mutation	SNP	pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N	p.R658C	ENST00000246957.5	37	c.1972	CCDS10508.1	16	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559656	0.27827	2.28E-4	1.16E-4	ENSG00000126602	ENST00000246957;ENST00000538171	T;T	0.43688	0.94;0.94	5.61	2.0	0.26442	.	0.164028	0.53938	D	0.000047	T	0.41351	0.1155	L	0.49126	1.545	0.51233	D	0.999916	P;P	0.40376	0.667;0.715	B;B	0.42851	0.173;0.4	T	0.34204	-0.9838	10	0.72032	D	0.01	-20.7331	12.8397	0.57794	0.0:0.0:0.4103:0.5897	.	605;658	F5H897;Q12931	.;TRAP1_HUMAN	C	658;605	ENSP00000246957:R658C;ENSP00000442070:R605C	ENSP00000246957:R658C	R	-	1	0	TRAP1	3648836	0.991000	0.36638	0.036000	0.18154	0.001000	0.01503	0.921000	0.28718	0.059000	0.16252	-0.271000	0.10264	CGC	TRAP1	-	pfam_Hsp90,pirsf_Hsp90		0.597	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAP1	HGNC	protein_coding	OTTHUMT00000251586.2	G	NM_016292		3708835	-1	no_errors	ENST00000246957	ensembl	human	known	70_37	missense	SNP	0.999	A
TTLL3	26140	genome.wustl.edu	37	3	9852359	9852359	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:9852359G>A	ENST00000547186.1	+	2	230	c.14G>A	c.(13-15)aGa>aAa	p.R5K	TTLL3_ENST00000426895.4_Missense_Mutation_p.R148K|ARPC4-TTLL3_ENST00000397256.1_Intron|TTLL3_ENST00000427853.3_5'Flank|RP11-266J6.2_ENST00000602768.1_RNA|TTLL3_ENST00000397241.1_5'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	5					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AACCGGCTCAGAAACGCCAAA	0.622																																																	0													22.0	23.0	23.0					3																	9852359		1894	4107	6001	SO:0001583	missense	26140				CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.14G>A	3.37:g.9852359G>A	ENSP00000446659:p.Arg5Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.R148K	ENST00000547186.1	37	c.443		3	.	.	.	.	.	.	.	.	.	.	g	1.735	-0.493068	0.04322	.	.	ENSG00000214021	ENST00000414814;ENST00000452597;ENST00000419081;ENST00000438596;ENST00000417065;ENST00000439814;ENST00000418745;ENST00000430718;ENST00000426895;ENST00000547186;ENST00000426827;ENST00000422738	T;T;T;T;T;T;T;T;T;T;T;T	0.07021	3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23;3.23	4.36	0.76	0.18442	.	.	.	.	.	T	0.02888	0.0086	.	.	.	0.80722	D	1	B	0.11235	0.004	B	0.06405	0.002	T	0.43261	-0.9402	8	0.02654	T	1	.	5.4306	0.16450	0.6172:0.0:0.3828:0.0	.	5	Q9Y4R7	TTLL3_HUMAN	K	5;5;5;5;5;5;5;5;148;5;5;5	ENSP00000399930:R5K;ENSP00000399782:R5K;ENSP00000401686:R5K;ENSP00000414965:R5K;ENSP00000408128:R5K;ENSP00000394481:R5K;ENSP00000400462:R5K;ENSP00000402197:R5K;ENSP00000392549:R148K;ENSP00000446659:R5K;ENSP00000389904:R5K;ENSP00000412915:R5K	ENSP00000399930:R5K	R	+	2	0	TTLL3	9827359	0.483000	0.25956	0.984000	0.44739	0.448000	0.32197	0.950000	0.29122	0.241000	0.21283	-0.457000	0.05445	AGA	TTLL3	-	NULL		0.622	TTLL3-203	KNOWN	basic	protein_coding	TTLL3	HGNC	protein_coding		G	NM_001025930.2		9852359	+1	no_errors	ENST00000426895	ensembl	human	known	70_37	missense	SNP	0.952	A
TTLL8	164714	genome.wustl.edu	37	22	50469242	50469242	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr22:50469242G>C	ENST00000266182.6	-	12	1819	c.1820C>G	c.(1819-1821)tCg>tGg	p.S607W	TTLL8_ENST00000440475.1_Missense_Mutation_p.S587W			A6PVC2	TTLL8_HUMAN	tubulin tyrosine ligase-like family, member 8	623					cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GTCCAACAGCGAGGCCGAGGC	0.706																																																	0													7.0	9.0	8.0					22																	50469242		1993	4132	6125	SO:0001583	missense	164714					22q13.33	2013-02-14			ENSG00000138892	ENSG00000138892		"""Tubulin tyrosine ligase-like family"""	34000	protein-coding gene	gene with protein product						15890843	Standard	XM_003403745		Approved			A6PVC2	OTTHUMG00000150241	ENST00000266182.6:c.1820C>G	22.37:g.50469242G>C	ENSP00000266182:p.Ser607Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDV0	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.S607W	ENST00000266182.6	37	c.1820		22	.	.	.	.	.	.	.	.	.	.	g	14.26	2.483183	0.44147	.	.	ENSG00000138892	ENST00000266182;ENST00000440475;ENST00000433387	T;T;T	0.05786	3.39;3.51;3.51	4.84	-1.42	0.08913	.	24.946800	0.00166	N	0.000000	T	0.05044	0.0135	N	0.14661	0.345	0.09310	N	1	P	0.46987	0.888	B	0.41764	0.366	T	0.25152	-1.0140	10	0.66056	D	0.02	.	5.5875	0.17283	0.3106:0.0:0.5588:0.1306	.	607	B5MDV0	.	W	607;587;623	ENSP00000266182:S607W;ENSP00000387509:S587W;ENSP00000392252:S623W	ENSP00000266182:S607W	S	-	2	0	TTLL8	48811369	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.285000	0.18883	-0.363000	0.08101	-1.966000	0.00469	TCG	TTLL8	-	NULL		0.706	TTLL8-201	KNOWN	basic|appris_candidate_longest	protein_coding	TTLL8	HGNC	protein_coding		G	NM_001080447		50469242	-1	no_errors	ENST00000266182	ensembl	human	known	70_37	missense	SNP	0.000	C
UBE2H	7328	genome.wustl.edu	37	7	129497387	129497387	+	Silent	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr7:129497387G>A	ENST00000355621.3	-	5	655	c.262C>T	c.(262-264)Cta>Tta	p.L88L	UBE2H_ENST00000473814.2_Intron	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	88					protein K11-linked ubiquitination (GO:0070979)|protein K48-linked ubiquitination (GO:0070936)|ubiquitin-dependent protein catabolic process (GO:0006511)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					ATTACATCTAGACACACAGTT	0.343																																																	0													114.0	112.0	112.0					7																	129497387		2203	4300	6503	SO:0001819	synonymous_variant	7328			BC006277	CCDS5814.1, CCDS47710.1	7q32	2012-07-20	2011-05-19		ENSG00000186591	ENSG00000186591	6.3.2.19	"""Ubiquitin-conjugating enzymes E2"""	12484	protein-coding gene	gene with protein product	"""GID complex subunit 3, UBC8 homolog (S. cerevisiae)"""	601082	"""ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8)"", ""ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)"""			8132613	Standard	NM_003344		Approved	UBCH, UBC8, GID3	uc003vpf.2	P62256	OTTHUMG00000157650	ENST00000355621.3:c.262C>T	7.37:g.129497387G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1L6|C9JY93|P37286|Q7Z6F4	Silent	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L88	ENST00000355621.3	37	c.262	CCDS5814.1	7																																																																																			UBE2H	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.343	UBE2H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2H	HGNC	protein_coding	OTTHUMT00000349327.2	G	NM_003344		129497387	-1	no_errors	ENST00000355621	ensembl	human	known	70_37	silent	SNP	1.000	A
UBE2O	63893	genome.wustl.edu	37	17	74388179	74388179	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:74388179G>C	ENST00000319380.7	-	16	3026	c.2962C>G	c.(2962-2964)Ctc>Gtc	p.L988V		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	988					positive regulation of BMP signaling pathway (GO:0030513)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCCTTGATGAGAGCTGAGAAG	0.602																																																	0													12.0	15.0	14.0					17																	74388179		2166	4272	6438	SO:0001583	missense	63893			AB051521	CCDS32742.1	17q25.1	2013-10-09			ENSG00000175931	ENSG00000175931			29554	protein-coding gene	gene with protein product						11311559, 11214970	Standard	NM_022066		Approved	E2-230K	uc002jrm.4	Q9C0C9	OTTHUMG00000180178	ENST00000319380.7:c.2962C>G	17.37:g.74388179G>C	ENSP00000323687:p.Leu988Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDU5|Q69YP4|Q6PIZ2|Q86UA4|Q8N425|Q8TBN1|Q9BSW1|Q9H6E6|Q9H7E4|Q9H9B2	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L988V	ENST00000319380.7	37	c.2962	CCDS32742.1	17	.	.	.	.	.	.	.	.	.	.	G	8.353	0.831324	0.16820	.	.	ENSG00000175931	ENST00000319380	T	0.71341	-0.56	5.19	3.18	0.36537	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.090159	0.45361	D	0.000377	T	0.67382	0.2887	N	0.20881	0.62	0.43003	D	0.994527	D	0.61697	0.99	P	0.60886	0.88	T	0.63541	-0.6614	10	0.27082	T	0.32	-16.0668	9.9148	0.41427	0.1598:0.0:0.8402:0.0	.	988	Q9C0C9	UBE2O_HUMAN	V	988	ENSP00000323687:L988V	ENSP00000323687:L988V	L	-	1	0	UBE2O	71899774	1.000000	0.71417	0.963000	0.40424	0.971000	0.66376	3.739000	0.55075	1.177000	0.42855	0.563000	0.77884	CTC	UBE2O	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.602	UBE2O-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2O	HGNC	protein_coding	OTTHUMT00000450123.1	G	NM_022066		74388179	-1	no_errors	ENST00000319380	ensembl	human	known	70_37	missense	SNP	1.000	C
UGP2	7360	genome.wustl.edu	37	2	64069277	64069278	+	5'UTR	INS	-	-	A	rs78573846|rs557755541|rs200172522|rs577912232|rs537386784	byFrequency	TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:64069277_64069278insA	ENST00000337130.5	+	0	434_435				UGP2_ENST00000487469.1_Intron|UGP2_ENST00000467648.2_Intron|UGP2_ENST00000394417.2_Intron|UGP2_ENST00000445915.2_5'Flank	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2						carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						GACTCCTCTAGAAAAAAAAAAA	0.401																																																	0																																										SO:0001623	5_prime_UTR_variant	7360				CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.-42->A	2.37:g.64069288_64069288dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q07131|Q0P6K2|Q86Y81|Q9BU15	RNA	INS	-	NULL	ENST00000337130.5	37	NULL	CCDS1875.1	2																																																																																			UGP2	-	-		0.401	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGP2	HGNC	protein_coding	OTTHUMT00000251688.1	-	NM_006759		64069278	+1	no_errors	ENST00000484056	ensembl	human	known	70_37	rna	INS	0.001:0.271	A
UQCRQ	27089	genome.wustl.edu	37	5	132203227	132203227	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:132203227G>C	ENST00000378670.3	+	3	343	c.202G>C	c.(202-204)Gag>Cag	p.E68Q	UQCRQ_ENST00000378665.1_Missense_Mutation_p.E68Q|GDF9_ENST00000378673.2_5'Flank|UQCRQ_ENST00000496429.1_3'UTR|UQCRQ_ENST00000378667.1_Missense_Mutation_p.E68Q|GDF9_ENST00000296875.2_5'Flank|GDF9_ENST00000464378.1_5'Flank	NM_014402.4	NP_055217.2	O14949	QCR8_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa	68					cellular metabolic process (GO:0044237)|cerebellar Purkinje cell layer development (GO:0021680)|hippocampus development (GO:0021766)|hypothalamus development (GO:0021854)|midbrain development (GO:0030901)|pons development (GO:0021548)|pyramidal neuron development (GO:0021860)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|subthalamus development (GO:0021539)|thalamus development (GO:0021794)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain (GO:0070469)	ubiquinol-cytochrome-c reductase activity (GO:0008121)			lung(3)	3		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAAGAGTTCGAGAGATCCAA	0.403																																																	0													80.0	79.0	79.0					5																	132203227		2203	4300	6503	SO:0001583	missense	27089			BC001390	CCDS34237.1	5q31.1	2011-07-04			ENSG00000164405	ENSG00000164405	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	29594	protein-coding gene	gene with protein product	"""ubiquinol-cytochrome c reductase, complex III subunit VII"", ""complex III subunit 8"""	612080				15544925, 12709789, 2164842	Standard	NM_014402		Approved	QP-C, QCR8, UQCR7	uc003kya.1	O14949	OTTHUMG00000059836	ENST00000378670.3:c.202G>C	5.37:g.132203227G>C	ENSP00000367939:p.Glu68Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5FVE2|Q9BV88|Q9T2V7	Missense_Mutation	SNP	pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8	p.E68Q	ENST00000378670.3	37	c.202	CCDS34237.1	5	.	.	.	.	.	.	.	.	.	.	G	14.69	2.610168	0.46527	.	.	ENSG00000164405	ENST00000378670;ENST00000378667;ENST00000378665	T;T;T	0.79454	-1.27;-1.27;-1.27	5.72	5.72	0.89469	.	0.398733	0.26979	N	0.021532	T	0.72787	0.3504	.	.	.	0.39719	D	0.971446	P	0.37061	0.58	B	0.37989	0.262	T	0.73965	-0.3816	9	0.41790	T	0.15	-35.9861	13.8035	0.63216	0.0:0.0:0.8471:0.1529	.	68	O14949	QCR8_HUMAN	Q	68	ENSP00000367939:E68Q;ENSP00000367936:E68Q;ENSP00000367934:E68Q	ENSP00000367934:E68Q	E	+	1	0	UQCRQ	132231126	1.000000	0.71417	0.975000	0.42487	0.176000	0.22953	4.475000	0.60210	2.717000	0.92951	0.655000	0.94253	GAG	UQCRQ	-	pfam_Cyt_bc1_su8,superfamily_Cyt_bc1_su8		0.403	UQCRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRQ	HGNC	protein_coding	OTTHUMT00000133040.1	G	NM_014402		132203227	+1	no_errors	ENST00000378665	ensembl	human	known	70_37	missense	SNP	0.995	C
USP24	23358	genome.wustl.edu	37	1	55624600	55624600	+	Missense_Mutation	SNP	C	C	T	rs567412757		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:55624600C>T	ENST00000294383.6	-	10	1177	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	USP24_ENST00000407756.1_Missense_Mutation_p.R281H	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	393					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTTCAGCATGCGCAATAGAAT	0.403													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16308	0.0		0.0	False		,,,				2504	0.0																0													75.0	71.0	72.0					1																	55624600		1893	4118	6011	SO:0001583	missense	23358			AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.1178G>A	1.37:g.55624600C>T	ENSP00000294383:p.Arg393His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19	p.R393H	ENST00000294383.6	37	c.1178	CCDS44154.2	1	.	.	.	.	.	.	.	.	.	.	C	34	5.385881	0.95967	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.38560	1.13;1.13	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.50973	0.1647	L	0.57536	1.79	0.58432	D	0.999991	D	0.64830	0.994	P	0.48189	0.57	T	0.55418	-0.8144	10	0.72032	D	0.01	.	19.6122	0.95610	0.0:1.0:0.0:0.0	.	281	B7WPF4	.	H	393;281	ENSP00000294383:R393H;ENSP00000385700:R281H	ENSP00000294383:R393H	R	-	2	0	USP24	55397188	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.568000	0.82369	2.709000	0.92574	0.591000	0.81541	CGC	USP24	-	superfamily_ARM-type_fold		0.403	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	USP24	HGNC	protein_coding	OTTHUMT00000022275.2	C			55624600	-1	no_errors	ENST00000294383	ensembl	human	known	70_37	missense	SNP	1.000	T
UTP20	27340	genome.wustl.edu	37	12	101759307	101759307	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr12:101759307G>C	ENST00000261637.4	+	46	6203	c.6029G>C	c.(6028-6030)gGa>gCa	p.G2010A		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2010					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						ATCACAGTGGGATTAATTGTA	0.368																																																	0													75.0	74.0	75.0					12																	101759307		2203	4300	6503	SO:0001583	missense	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.6029G>C	12.37:g.101759307G>C	ENSP00000261637:p.Gly2010Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.G2010A	ENST00000261637.4	37	c.6029	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550787	0.65311	.	.	ENSG00000120800	ENST00000261637	T	0.71817	-0.6	5.92	5.92	0.95590	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.87277	0.6137	M	0.87269	2.87	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88072	0.2801	10	0.72032	D	0.01	-25.4394	20.3206	0.98668	0.0:0.0:1.0:0.0	.	2010	O75691	UTP20_HUMAN	A	2010	ENSP00000261637:G2010A	ENSP00000261637:G2010A	G	+	2	0	UTP20	100283438	1.000000	0.71417	0.962000	0.40283	0.079000	0.17450	8.591000	0.90824	2.809000	0.96659	0.655000	0.94253	GGA	UTP20	-	superfamily_ARM-type_fold		0.368	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	G	NM_014503		101759307	+1	no_errors	ENST00000261637	ensembl	human	known	70_37	missense	SNP	1.000	C
VEGFB	7423	genome.wustl.edu	37	11	64003440	64003440	+	Silent	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr11:64003440C>T	ENST00000309422.2	+	3	555	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	RP11-783K16.14_ENST00000534988.1_RNA|VEGFB_ENST00000426086.2_Silent_p.L87L|RP11-783K16.14_ENST00000539963.1_RNA	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	87					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|coronary vasculature development (GO:0060976)|induction of positive chemotaxis (GO:0050930)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of vascular wound healing (GO:0035470)|protein O-linked glycosylation (GO:0006493)|response to drug (GO:0042493)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)|heparin binding (GO:0008201)|vascular endothelial growth factor receptor 1 binding (GO:0043183)			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6					Aflibercept(DB08885)	TGACGATGGCCTGGAGTGTGT	0.672																																																	0													40.0	36.0	37.0					11																	64003440		2198	4294	6492	SO:0001819	synonymous_variant	7423			BC008818	CCDS8062.1, CCDS58144.1	11q13	2005-09-29				ENSG00000173511			12681	protein-coding gene	gene with protein product		601398		VRF		8637916, 8919691	Standard	NM_001243733		Approved	VEGFL	uc001nyw.3	P49765		ENST00000309422.2:c.259C>T	11.37:g.64003440C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16528	Silent	SNP	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor	p.L87	ENST00000309422.2	37	c.259	CCDS8062.1	11																																																																																			VEGFB	-	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor		0.672	VEGFB-001	KNOWN	basic|CCDS	protein_coding	VEGFB	HGNC	protein_coding	OTTHUMT00000396393.2	C	NM_003377		64003440	+1	no_errors	ENST00000309422	ensembl	human	known	70_37	silent	SNP	1.000	T
XIST	7503	genome.wustl.edu	37	X	73064409	73064409	+	lincRNA	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:73064409G>C	ENST00000429829.1	-	0	8179					NR_001564.2				X inactive specific transcript (non-protein coding)																		TGTGCACCTTGATTGTCCAAA	0.443																																																	0													102.0	95.0	97.0					X																	73064409		876	1990	2866			7503			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73064409G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-		0.443	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	G	NR_001564		73064409	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.000	C
VSIG1	340547	genome.wustl.edu	37	X	107320570	107320570	+	Missense_Mutation	SNP	G	G	C	rs201525946		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chrX:107320570G>C	ENST00000217957.5	+	7	1240	c.1123G>C	c.(1123-1125)Gag>Cag	p.E375Q	VSIG1_ENST00000415430.3_Missense_Mutation_p.E411Q	NM_182607.4	NP_872413.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	375						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GGTTGTAGTTGAGCCCTTAAG	0.512																																																	0													101.0	97.0	98.0					X																	107320570		2203	4300	6503	SO:0001583	missense	340547			BX648658	CCDS14535.1, CCDS55474.1	Xq22.3	2013-01-29			ENSG00000101842	ENSG00000101842		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28675	protein-coding gene	gene with protein product		300620				12477932	Standard	NM_182607		Approved	MGC44287	uc011msk.2	Q86XK7	OTTHUMG00000022175	ENST00000217957.5:c.1123G>C	X.37:g.107320570G>C	ENSP00000217957:p.Glu375Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J4P2|Q6MZS4	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.E411Q	ENST00000217957.5	37	c.1231	CCDS14535.1	X	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084463	0.36758	.	.	ENSG00000101842	ENST00000415430;ENST00000217957	T;T	0.81163	-1.46;-1.2	4.2	3.33	0.38152	.	7739.230000	0.00166	N	0.000000	T	0.79986	0.4541	L	0.55481	1.735	0.09310	N	1	B;B	0.23058	0.079;0.079	B;B	0.24701	0.031;0.055	T	0.62877	-0.6761	10	0.66056	D	0.02	.	8.9609	0.35847	0.0:0.2205:0.7795:0.0	.	411;375	C9J4P2;Q86XK7	.;VSIG1_HUMAN	Q	411;375	ENSP00000402219:E411Q;ENSP00000217957:E375Q	ENSP00000217957:E375Q	E	+	1	0	VSIG1	107207226	0.073000	0.21202	0.022000	0.16811	0.123000	0.20343	1.301000	0.33447	1.104000	0.41587	0.513000	0.50165	GAG	VSIG1	-	NULL		0.512	VSIG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VSIG1	HGNC	protein_coding	OTTHUMT00000057858.1	G	NM_182607		107320570	+1	no_errors	ENST00000415430	ensembl	human	known	70_37	missense	SNP	0.155	C
XRCC3	7517	genome.wustl.edu	37	14	104166942	104166942	+	Intron	SNP	G	G	A	rs571706069		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr14:104166942G>A	ENST00000553264.1	-	6	1358				KLC1_ENST00000452929.2_Intron|XRCC3_ENST00000554913.1_Intron|XRCC3_ENST00000445556.1_Intron|XRCC3_ENST00000555055.1_Intron|XRCC3_ENST00000352127.7_Intron|XRCC3_ENST00000554974.1_Intron|KLC1_ENST00000555836.1_Intron|KLC1_ENST00000557450.1_Intron|KLC1_ENST00000334553.6_Intron|XRCC3_ENST00000555832.1_5'Flank|KLC1_ENST00000554280.1_Intron|KLC1_ENST00000348520.6_Intron			O43542	XRCC3_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 3						cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|response to organic substance (GO:0010033)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Melanoma(154;0.155)|all_epithelial(191;0.19)		Epithelial(152;0.239)		GAAGACGCCTGAGGGCCGCCT	0.622								Direct reversal of damage;Homologous recombination																																									0													24.0	28.0	26.0					14																	104166942		1985	4147	6132	SO:0001627	intron_variant	7517			AF035586	CCDS9984.1	14q32.3	2006-05-04				ENSG00000126215			12830	protein-coding gene	gene with protein product	"""RAD51-like"""	600675				7603995	Standard	NM_001100118		Approved		uc001ynz.4	O43542		ENST00000553264.1:c.562-1029C>T	14.37:g.104166942G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43568|Q9BU18	RNA	SNP	-	NULL	ENST00000553264.1	37	NULL	CCDS9984.1	14																																																																																			XRCC3	-	-		0.622	XRCC3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	XRCC3	HGNC	protein_coding	OTTHUMT00000414631.1	G	NM_005432		104166942	-1	no_errors	ENST00000555451	ensembl	human	putative	70_37	rna	SNP	0.000	A
ZBTB38	253461	genome.wustl.edu	37	3	141164491	141164491	+	Silent	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:141164491C>T	ENST00000514251.1	+	4	3540	c.3261C>T	c.(3259-3261)atC>atT	p.I1087I	ZBTB38_ENST00000321464.5_Silent_p.I1088I|ZBTB38_ENST00000441582.2_Silent_p.I1087I					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ATGAAAGAATCCATACTGGAG	0.443																																																	0													87.0	86.0	86.0					3																	141164491		1970	4168	6138	SO:0001819	synonymous_variant	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.3261C>T	3.37:g.141164491C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.I1088	ENST00000514251.1	37	c.3264	CCDS43157.1	3																																																																																			ZBTB38	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.443	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	C			141164491	+1	no_errors	ENST00000321464	ensembl	human	known	70_37	silent	SNP	1.000	T
ZBTB49	166793	genome.wustl.edu	37	4	4322678	4322678	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr4:4322678G>A	ENST00000337872.4	+	8	2054	c.1933G>A	c.(1933-1935)Gat>Aat	p.D645N	ZBTB49_ENST00000538529.1_Missense_Mutation_p.D128N|RP11-265O12.1_ENST00000509015.1_lincRNA|ZBTB49_ENST00000355834.3_Missense_Mutation_p.D523N	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	645					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(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GGCAGAATTTGATAGCCACTC	0.498																																																	0													33.0	36.0	35.0					4																	4322678		2203	4300	6503	SO:0001583	missense	166793			AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1933G>A	4.37:g.4322678G>A	ENSP00000338807:p.Asp645Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.D645N	ENST00000337872.4	37	c.1933	CCDS3375.1	4	.	.	.	.	.	.	.	.	.	.	G	14.95	2.688479	0.48097	.	.	ENSG00000168826	ENST00000355834;ENST00000337872;ENST00000538529	T;T;T	0.14516	2.5;2.87;3.18	4.19	3.32	0.38043	.	0.163075	0.28748	N	0.014277	T	0.16769	0.0403	M	0.65975	2.015	0.09310	N	1	B;B	0.25609	0.13;0.058	B;B	0.28849	0.095;0.042	T	0.20306	-1.0279	10	0.15952	T	0.53	.	14.0057	0.64461	0.0:0.1528:0.8472:0.0	.	523;645	Q6ZSB9-2;Q6ZSB9	.;ZBT49_HUMAN	N	523;645;128	ENSP00000348091:D523N;ENSP00000338807:D645N;ENSP00000445653:D128N	ENSP00000338807:D645N	D	+	1	0	ZBTB49	4373579	0.988000	0.35896	0.002000	0.10522	0.107000	0.19398	3.870000	0.56070	0.859000	0.35456	0.455000	0.32223	GAT	ZBTB49	-	NULL		0.498	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB49	HGNC	protein_coding	OTTHUMT00000206688.3	G	NM_145291		4322678	+1	no_errors	ENST00000337872	ensembl	human	known	70_37	missense	SNP	0.040	A
ZDHHC11B	653082	genome.wustl.edu	37	5	745361	745361	+	Silent	SNP	C	C	T	rs574413839		TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:745361C>T	ENST00000382776.4	-	6	836	c.837G>A	c.(835-837)gaG>gaA	p.E279E	ZDHHC11_ENST00000424784.2_Intron|ZDHHC11B_ENST00000508859.2_Silent_p.E290E			P0C7U3	ZH11B_HUMAN	zinc finger, DHHC-type containing 11B	279						integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			lung(3)|stomach(1)	4						GTTTTGAACTCTCTTCTTTGC	0.478																																																	0																																										SO:0001819	synonymous_variant	653082					5p15.33	2007-01-29				ENSG00000206077		"""Zinc fingers, DHHC-type"""	32962	protein-coding gene	gene with protein product							Standard	XM_003118532		Approved			P0C7U3		ENST00000382776.4:c.837G>A	5.37:g.745361C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHR3	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.E279	ENST00000382776.4	37	c.837		5																																																																																			ZDHHC11B	-	NULL		0.478	ZDHHC11B-201	KNOWN	basic|appris_candidate	protein_coding	ZDHHC11B	HGNC	protein_coding		C	XM_926053		745361	-1	no_errors	ENST00000382776	ensembl	human	known	70_37	silent	SNP	0.000	T
ZEB2	9839	genome.wustl.edu	37	2	145156053	145156053	+	Missense_Mutation	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr2:145156053G>C	ENST00000558170.2	-	8	3885	c.2701C>G	c.(2701-2703)Caa>Gaa	p.Q901E	ZEB2_ENST00000303660.4_Missense_Mutation_p.Q901E|ZEB2_ENST00000539609.3_Missense_Mutation_p.Q877E|ZEB2_ENST00000409487.3_Missense_Mutation_p.Q901E	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	901					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		AATGCGCTTTGAGGTGGAAGA	0.463																																					Melanoma(33;1235 1264 5755 16332)												0													172.0	166.0	168.0					2																	145156053		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.2701C>G	2.37:g.145156053G>C	ENSP00000454157:p.Gln901Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.Q901E	ENST00000558170.2	37	c.2701	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	G	17.78	3.474094	0.63737	.	.	ENSG00000169554	ENST00000539609;ENST00000303660;ENST00000409487	T;T;T	0.14391	2.53;2.51;2.51	5.96	5.96	0.96718	.	0.047810	0.85682	D	0.000000	T	0.29914	0.0748	L	0.36672	1.1	0.80722	D	1	P;D;P;P	0.54964	0.484;0.969;0.924;0.924	B;D;P;P	0.64877	0.224;0.93;0.9;0.9	T	0.00176	-1.1953	10	0.52906	T	0.07	-11.6614	20.422	0.99049	0.0:0.0:1.0:0.0	.	877;766;900;901	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	E	877;901;901	ENSP00000443792:Q877E;ENSP00000302501:Q901E;ENSP00000386854:Q901E	ENSP00000302501:Q901E	Q	-	1	0	ZEB2	144872523	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.876000	0.87215	2.832000	0.97577	0.655000	0.94253	CAA	ZEB2	-	NULL		0.463	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	G	NM_014795		145156053	-1	no_errors	ENST00000303660	ensembl	human	known	70_37	missense	SNP	1.000	C
ZFYVE26	23503	genome.wustl.edu	37	14	68215191	68215191	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr14:68215191G>A	ENST00000347230.4	-	42	7720	c.7582C>T	c.(7582-7584)Cac>Tac	p.H2528Y	U3_ENST00000516983.1_RNA|RN7SL213P_ENST00000463482.2_RNA	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2528					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCCCGGGGGTGGCTTGTCAGA	0.652																																																	0													50.0	50.0	50.0					14																	68215191		2203	4300	6503	SO:0001583	missense	23503			AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.7582C>T	14.37:g.68215191G>A	ENSP00000251119:p.His2528Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Missense_Mutation	SNP	pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel	p.H2528Y	ENST00000347230.4	37	c.7582	CCDS9788.1	14	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617258	0.66672	.	.	ENSG00000072121	ENST00000347230;ENST00000411699	T	0.25912	1.77	5.66	5.66	0.87406	.	0.584640	0.18125	N	0.150914	T	0.20495	0.0493	N	0.19112	0.55	0.80722	D	1	B	0.31730	0.337	B	0.25759	0.063	T	0.05801	-1.0863	10	0.52906	T	0.07	-4.6232	20.0989	0.97860	0.0:0.0:1.0:0.0	.	2528	Q68DK2	ZFY26_HUMAN	Y	2528;2507	ENSP00000251119:H2528Y	ENSP00000251119:H2528Y	H	-	1	0	ZFYVE26	67284944	1.000000	0.71417	0.994000	0.49952	0.929000	0.56500	8.463000	0.90377	2.830000	0.97506	0.655000	0.94253	CAC	ZFYVE26	-	NULL		0.652	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE26	HGNC	protein_coding	OTTHUMT00000412736.2	G	NM_015346		68215191	-1	no_errors	ENST00000347230	ensembl	human	known	70_37	missense	SNP	0.996	A
ZNF184	7738	genome.wustl.edu	37	6	27419274	27419274	+	Silent	SNP	A	A	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr6:27419274A>G	ENST00000211936.6	-	6	2348	c.2064T>C	c.(2062-2064)caT>caC	p.H688H	ZNF184_ENST00000377419.1_Silent_p.H688H	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	688					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GAGTATTCTGATGTTCAGTCA	0.423																																																	0													122.0	127.0	125.0					6																	27419274		2203	4300	6503	SO:0001819	synonymous_variant	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.2064T>C	6.37:g.27419274A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R715|O60792|Q8TBA9	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.H688	ENST00000211936.6	37	c.2064	CCDS4624.1	6																																																																																			ZNF184	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF184	HGNC	protein_coding	OTTHUMT00000040146.1	A	NM_007149		27419274	-1	no_errors	ENST00000211936	ensembl	human	known	70_37	silent	SNP	0.856	G
ZNF257	113835	genome.wustl.edu	37	19	22271993	22271993	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:22271993C>T	ENST00000594947.1	+	4	1585	c.1441C>T	c.(1441-1443)Cat>Tat	p.H481Y		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	481					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TAAAATAATTCATACTGGGGA	0.393																																																	0													42.0	47.0	46.0					19																	22271993		2115	4250	6365	SO:0001583	missense	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.1441C>T	19.37:g.22271993C>T	ENSP00000470209:p.His481Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPS4|E9PG34|Q8NE34	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.H481Y	ENST00000594947.1	37	c.1441	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	C	12.94	2.087992	0.36855	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.65004	0.2650	H	0.95437	3.67	0.27266	N	0.958497	D	0.58620	0.983	P	0.49301	0.606	T	0.61763	-0.6996	8	0.87932	D	0	.	9.0461	0.36347	0.0:1.0:0.0:0.0	.	481	Q9Y2Q1	ZN257_HUMAN	Y	481;453	.	ENSP00000380312:H453Y	H	+	1	0	ZNF257	22063833	0.966000	0.33281	0.104000	0.21259	0.039000	0.13416	3.637000	0.54324	0.518000	0.28383	0.313000	0.20887	CAT	ZNF257	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	C			22271993	+1	no_errors	ENST00000594947	ensembl	human	known	70_37	missense	SNP	0.998	T
ZNF354C	30832	genome.wustl.edu	37	5	178506971	178506971	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr5:178506971G>A	ENST00000315475.6	+	5	1844	c.1538G>A	c.(1537-1539)aGa>aAa	p.R513K		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AACCTTTGTAGACACAAAAAA	0.378																																																	0													96.0	100.0	98.0					5																	178506971		2203	4300	6503	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.1538G>A	5.37:g.178506971G>A	ENSP00000324064:p.Arg513Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P4P9|Q8NFX1	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.R513K	ENST00000315475.6	37	c.1538	CCDS4443.1	5	.	.	.	.	.	.	.	.	.	.	G	14.78	2.638634	0.47153	.	.	ENSG00000177932	ENST00000315475	T	0.60920	0.15	4.22	4.22	0.49857	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42404	0.1201	N	0.25094	0.71	0.27441	N	0.953712	P	0.47762	0.9	P	0.46237	0.508	T	0.20940	-1.0260	9	0.05721	T	0.95	-22.1696	9.6742	0.40030	0.0:0.0:0.7925:0.2074	.	513	Q86Y25	Z354C_HUMAN	K	513	ENSP00000324064:R513K	ENSP00000324064:R513K	R	+	2	0	ZNF354C	178439577	0.001000	0.12720	1.000000	0.80357	0.978000	0.69477	0.456000	0.21859	2.330000	0.79161	0.591000	0.81541	AGA	ZNF354C	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	G			178506971	+1	no_errors	ENST00000315475	ensembl	human	known	70_37	missense	SNP	0.976	A
ZNF430	80264	genome.wustl.edu	37	19	21240265	21240265	+	Missense_Mutation	SNP	G	G	A	rs199515644	byFrequency	TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:21240265G>A	ENST00000261560.5	+	5	1332	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	AC012627.1_ENST00000578233.1_RNA	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	384					regulation of transcription, DNA-templated (GO:0006355)|substantia nigra development (GO:0021762)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R384Q(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						GCTTTTTACCGATTCTCATAC	0.368													.|||	2	0.000399361	0.0015	0.0	5008	,	,		21260	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)											30.0	34.0	32.0					19																	21240265		2190	4289	6479	SO:0001583	missense	80264			AK023721	CCDS32978.1	19p12	2013-01-08				ENSG00000118620		"""Zinc fingers, C2H2-type"", ""-"""	20808	protein-coding gene	gene with protein product							Standard	NM_025189		Approved	FLJ13659	uc002npj.3	Q9H8G1		ENST00000261560.5:c.1151G>A	19.37:g.21240265G>A	ENSP00000261560:p.Arg384Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86V70	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.R384Q	ENST00000261560.5	37	c.1151	CCDS32978.1	19	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.386331	0.00202	.	.	ENSG00000118620	ENST00000261560	T	0.35421	1.31	1.05	-2.11	0.07187	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09335	0.0230	N	0.05608	-0.01	0.09310	N	1	D;B	0.59767	0.986;0.146	B;B	0.31290	0.127;0.007	T	0.30268	-0.9984	9	0.02654	T	1	.	5.9345	0.19158	0.309:0.0:0.691:0.0	.	383;384	Q2NKJ9;Q9H8G1	.;ZN430_HUMAN	Q	384	ENSP00000261560:R384Q	ENSP00000261560:R384Q	R	+	2	0	ZNF430	21032105	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.205000	0.00274	-0.657000	0.05373	-0.672000	0.03802	CGA	ZNF430	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.368	ZNF430-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF430	HGNC	protein_coding	OTTHUMT00000463539.1	G	NM_025189		21240265	+1	no_errors	ENST00000261560	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF473	25888	genome.wustl.edu	37	19	50549917	50549917	+	Silent	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:50549917C>T	ENST00000595661.1	+	6	2712	c.2217C>T	c.(2215-2217)ttC>ttT	p.F739F	ZNF473_ENST00000445728.3_Silent_p.F727F|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Silent_p.F739F|ZNF473_ENST00000270617.3_Silent_p.F739F|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	739					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.F739F(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		GGAAGGCCTTCGGCCTGAGTG	0.512											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	lung(1)											79.0	84.0	82.0					19																	50549917		2203	4300	6503	SO:0001819	synonymous_variant	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2217C>T	19.37:g.50549917C>T		Somatic	970	WXS	Illumina HiSeq	Phase_IV	A8K8T7|Q9ULS9|Q9Y4Q7	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.F739	ENST00000595661.1	37	c.2217	CCDS33077.1	19																																																																																			ZNF473	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.512	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF473	HGNC	protein_coding	OTTHUMT00000464833.1	C	XM_046390		50549917	+1	no_errors	ENST00000270617	ensembl	human	known	70_37	silent	SNP	0.007	T
ZNF473	25888	genome.wustl.edu	37	19	50550144	50550144	+	Missense_Mutation	SNP	C	C	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:50550144C>T	ENST00000595661.1	+	6	2939	c.2444C>T	c.(2443-2445)tCc>tTc	p.S815F	ZNF473_ENST00000445728.3_Missense_Mutation_p.S803F|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.S815F|ZNF473_ENST00000270617.3_Missense_Mutation_p.S815F|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	815					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AAGCCTTACTCCTGTAATGTG	0.502											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													83.0	80.0	81.0					19																	50550144		2203	4300	6503	SO:0001583	missense	25888			AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.2444C>T	19.37:g.50550144C>T	ENSP00000472808:p.Ser815Phe	Somatic	970	WXS	Illumina HiSeq	Phase_IV	A8K8T7|Q9ULS9|Q9Y4Q7	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.S815F	ENST00000595661.1	37	c.2444	CCDS33077.1	19	.	.	.	.	.	.	.	.	.	.	C	9.894	1.204916	0.22205	.	.	ENSG00000142528	ENST00000270617;ENST00000391821;ENST00000445728	T;T;T	0.18016	2.24;2.24;2.24	4.06	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	2.022810	0.02407	N	0.081218	T	0.17408	0.0418	L	0.52759	1.655	0.09310	N	1	P	0.35612	0.512	B	0.36504	0.226	T	0.29549	-1.0008	10	0.72032	D	0.01	2.8885	4.2335	0.10615	0.1613:0.3673:0.0:0.4714	.	815	Q8WTR7	ZN473_HUMAN	F	815;815;803	ENSP00000270617:S815F;ENSP00000375697:S815F;ENSP00000388961:S803F	ENSP00000270617:S815F	S	+	2	0	ZNF473	55241956	0.000000	0.05858	0.004000	0.12327	0.077000	0.17291	-4.070000	0.00301	-0.175000	0.10725	-0.150000	0.13652	TCC	ZNF473	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.502	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF473	HGNC	protein_coding	OTTHUMT00000464833.1	C	XM_046390		50550144	+1	no_errors	ENST00000270617	ensembl	human	known	70_37	missense	SNP	0.001	T
ZNF501	115560	genome.wustl.edu	37	3	44776204	44776204	+	Silent	SNP	G	G	C			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr3:44776204G>C	ENST00000396048.2	+	3	728	c.291G>C	c.(289-291)ctG>ctC	p.L97L	KIAA1143_ENST00000484437.1_5'Flank	NM_001258280.1|NM_145044.3	NP_001245209.1|NP_659481.2	Q96CX3	ZN501_HUMAN	zinc finger protein 501	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.00843)|KIRC - Kidney renal clear cell carcinoma(197;0.0463)|Kidney(197;0.0579)		TTCAGCATCTGAGAATTCATA	0.373																																																	0													74.0	86.0	82.0					3																	44776204		2196	4300	6496	SO:0001819	synonymous_variant	115560			BC013762	CCDS2720.2	3p21.32	2013-01-08			ENSG00000186446	ENSG00000186446		"""Zinc fingers, C2H2-type"""	23717	protein-coding gene	gene with protein product			"""zinc finger protein 52"""	ZNF52		1505991	Standard	NM_145044		Approved	MGC21738	uc003cnu.2	Q96CX3	OTTHUMG00000133048	ENST00000396048.2:c.291G>C	3.37:g.44776204G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLY7|Q96NU9	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L97	ENST00000396048.2	37	c.291	CCDS2720.2	3																																																																																			ZNF501	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF501-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF501	HGNC	protein_coding	OTTHUMT00000256654.4	G	NM_145044		44776204	+1	no_errors	ENST00000396048	ensembl	human	known	70_37	silent	SNP	1.000	C
ZNF586	54807	genome.wustl.edu	37	19	58287926	58287926	+	Missense_Mutation	SNP	G	G	A			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr19:58287926G>A	ENST00000396154.2	+	2	225	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_Intron|ZNF586_ENST00000391702.3_5'UTR	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	18	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGTGACCTTTGAAGATGTGGC	0.483																																																	0													197.0	198.0	198.0					19																	58287926		2201	4300	6501	SO:0001583	missense	54807			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.52G>A	19.37:g.58287926G>A	ENSP00000379458:p.Glu18Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	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.E18K	ENST00000396154.2	37	c.52	CCDS42640.1	19	.	.	.	.	.	.	.	.	.	.	G	9.925	1.213343	0.22289	.	.	ENSG00000083828	ENST00000449441;ENST00000396154	T	0.01685	4.69	2.06	-0.29	0.12847	Krueppel-associated box (4);	.	.	.	.	T	0.01523	0.0049	L	0.53671	1.685	0.44798	D	0.997806	B	0.20780	0.048	B	0.23716	0.048	T	0.44345	-0.9334	9	0.02654	T	1	.	2.8063	0.05428	0.1997:0.3091:0.4912:0.0	.	18	Q9NXT0	ZN586_HUMAN	K	18	ENSP00000379458:E18K	ENSP00000379458:E18K	E	+	1	0	ZNF586	62979738	0.001000	0.12720	0.679000	0.29978	0.990000	0.78478	-0.389000	0.07342	0.176000	0.19873	0.655000	0.94253	GAA	ZNF586	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.483	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF586	HGNC	protein_coding	OTTHUMT00000466825.2	G	NM_017652		58287926	+1	no_errors	ENST00000396154	ensembl	human	known	70_37	missense	SNP	0.676	A
ZNF669	79862	genome.wustl.edu	37	1	247267393	247267393	+	Missense_Mutation	SNP	C	C	G			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr1:247267393C>G	ENST00000343381.6	-	1	281	c.109G>C	c.(109-111)Gag>Cag	p.E37Q	ZNF669_ENST00000358785.4_Missense_Mutation_p.E37Q|ZNF669_ENST00000448299.2_Intron|ZNF669_ENST00000366501.1_Intron|ZNF669_ENST00000366500.1_Intron	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	37					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(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CACGGCGACTCGGTCCGCAGG	0.701																																																	0													9.0	12.0	11.0					1																	247267393		2149	4266	6415	SO:0001583	missense	79862				CCDS31088.1, CCDS44345.1	1q44	2013-01-08			ENSG00000188295	ENSG00000188295		"""Zinc fingers, C2H2-type"", ""-"""	25736	protein-coding gene	gene with protein product						12477932	Standard	NM_024804		Approved	FLJ12606	uc001ice.2	Q96BR6	OTTHUMG00000040869	ENST00000343381.6:c.109G>C	1.37:g.247267393C>G	ENSP00000342818:p.Glu37Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KP94|Q5VT39|Q9H9Q6	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.E37Q	ENST00000343381.6	37	c.109	CCDS31088.1	1	.	.	.	.	.	.	.	.	.	.	C	0.055	-1.238435	0.01493	.	.	ENSG00000188295	ENST00000358785;ENST00000343381;ENST00000476158	T;T;T	0.05855	4.74;3.38;4.7	0.302	-0.604	0.11626	.	.	.	.	.	T	0.02494	0.0076	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47355	-0.9124	9	0.15499	T	0.54	.	2.2172	0.03963	0.2953:0.3473:0.3574:0.0	.	37	Q96BR6	ZN669_HUMAN	Q	37	ENSP00000351636:E37Q;ENSP00000342818:E37Q;ENSP00000429550:E37Q	ENSP00000342818:E37Q	E	-	1	0	ZNF669	245334016	0.459000	0.25768	0.004000	0.12327	0.004000	0.04260	0.192000	0.17096	-0.776000	0.04578	-0.777000	0.03380	GAG	ZNF669	-	NULL		0.701	ZNF669-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF669	HGNC	protein_coding	OTTHUMT00000098394.4	C	NM_024804		247267393	-1	no_errors	ENST00000343381	ensembl	human	known	70_37	missense	SNP	0.064	G
ZNF750	79755	genome.wustl.edu	37	17	80789924	80789924	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LP-A5U2-01A-11D-A28B-09	TCGA-LP-A5U2-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74b18995-a18c-48d8-8838-669f3cb22935	2bc8a678-99d2-4051-8e89-d874215f5d2d	g.chr17:80789924G>T	ENST00000269394.3	-	2	1240	c.407C>A	c.(406-408)tCa>tAa	p.S136*	TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	136					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|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(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTTGCAGGGTGATGCCCTGTG	0.642																																																	0													31.0	34.0	33.0					17																	80789924		2203	4300	6503	SO:0001587	stop_gained	79755			AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.407C>A	17.37:g.80789924G>T	ENSP00000269394:p.Ser136*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H899	Nonsense_Mutation	SNP	NULL	p.S136*	ENST00000269394.3	37	c.407	CCDS11819.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.803967	0.97849	.	.	ENSG00000141579	ENST00000269394	.	.	.	5.86	-0.35	0.12606	.	1.469050	0.04165	N	0.323827	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.1696	3.3464	0.07137	0.4427:0.0:0.2844:0.2728	.	.	.	.	X	136	.	.	S	-	2	0	ZNF750	78383213	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.344000	0.19962	-0.035000	0.13691	0.655000	0.94253	TCA	ZNF750	-	NULL		0.642	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF750	HGNC	protein_coding	OTTHUMT00000439074.2	G	NM_024702		80789924	-1	no_errors	ENST00000269394	ensembl	human	known	70_37	nonsense	SNP	0.000	T
