#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
A2M	2	genome.wustl.edu	37	12	9265031	9265031	+	Silent	SNP	G	G	A	rs199872729		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr12:9265031G>A	ENST00000318602.7	-	3	679	c.372C>T	c.(370-372)aaC>aaT	p.N124N		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	124					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GACTGTCCTCGTTCTTAACCA	0.448													G|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0																0													110.0	105.0	107.0					12																	9265031		1935	4158	6093	SO:0001819	synonymous_variant	2			BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.372C>T	12.37:g.9265031G>A			Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_Beta-lactam/transpept-like,superfamily_Cupredoxin	p.N124	ENST00000318602.7	37	c.372	CCDS44827.1	12																																																																																			A2M	-	superfamily_Cupredoxin		0.448	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	A2M	HGNC	protein_coding	OTTHUMT00000317233.2	G	NM_000014		9265031	-1	no_errors	ENST00000318602	ensembl	human	known	70_37	silent	SNP	0.000	A
ADAM21P1	145241	genome.wustl.edu	37	14	70714087	70714087	+	RNA	SNP	T	T	G	rs79122905		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr14:70714087T>G	ENST00000530196.1	-	0	431					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		CCTCCAGGAGTGCACGCTCAT	0.507																																																	0																																												145241					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714087T>G				RNA	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			ADAM21P1	-	-		0.507	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	HGNC	pseudogene	OTTHUMT00000390451.1	T	NG_002467		70714087	-1	no_errors	ENST00000530196	ensembl	human	known	70_37	rna	SNP	0.001	G
ADAM21P1	145241	genome.wustl.edu	37	14	70714144	70714144	+	RNA	SNP	A	A	G	rs111296958		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr14:70714144A>G	ENST00000530196.1	-	0	374					NR_003951.1				ADAM metallopeptidase domain 21 pseudogene 1																		AGAGCTTCTTAACCCTCATAT	0.502																																																	0																																												145241					14q24.2	2014-03-25	2010-01-12	2010-01-12	ENSG00000235812	ENSG00000235812			19822	pseudogene	pseudogene			"""a disintegrin and metalloproteinase domain 21 pseudogene"", ""ADAM metallopeptidase domain 21 pseudogene"""	ADAM21P			Standard	NR_003951		Approved		uc010ttg.2		OTTHUMG00000166565		14.37:g.70714144A>G				RNA	SNP	-	NULL	ENST00000530196.1	37	NULL		14																																																																																			ADAM21P1	-	-		0.502	ADAM21P1-002	KNOWN	basic	processed_transcript	ADAM21P1	HGNC	pseudogene	OTTHUMT00000390451.1	A	NG_002467		70714144	-1	no_errors	ENST00000530196	ensembl	human	known	70_37	rna	SNP	0.121	G
AEBP2	121536	genome.wustl.edu	37	12	19615499	19615499	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr12:19615499C>T	ENST00000398864.3	+	2	753	c.727C>T	c.(727-729)Cca>Tca	p.P243S	AEBP2_ENST00000541908.1_Missense_Mutation_p.P14S|AEBP2_ENST00000360995.4_Missense_Mutation_p.P27S|AEBP2_ENST00000266508.9_Missense_Mutation_p.P243S	NM_001114176.1	NP_001107648.1	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	243	Interaction with RBBP4.|Ser-rich.				chromatin modification (GO:0016568)	ESC/E(Z) complex (GO:0035098)	metal ion binding (GO:0046872)|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 negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					GCGTTCAACTCCAGCAATGAT	0.408																																																	0													81.0	73.0	75.0					12																	19615499		1916	4138	6054	SO:0001583	missense	121536				CCDS44841.1, CCDS44842.1, CCDS58215.1	12p12.3	2012-10-02			ENSG00000139154	ENSG00000139154			24051	protein-coding gene	gene with protein product						10329662	Standard	NM_153207		Approved	MGC17922	uc001ref.2	Q6ZN18	OTTHUMG00000168906	ENST00000398864.3:c.727C>T	12.37:g.19615499C>T	ENSP00000381840:p.Pro243Ser		Q59FS5|Q6ZN62|Q96BG3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P243S	ENST00000398864.3	37	c.727	CCDS44841.1	12	.	.	.	.	.	.	.	.	.	.	C	25.1	4.606839	0.87157	.	.	ENSG00000139154	ENST00000538425;ENST00000541908;ENST00000398864;ENST00000435841;ENST00000266508;ENST00000360995	D;T;D;D;T	0.91894	-2.26;-0.41;-2.93;-2.93;-0.34	5.28	5.28	0.74379	.	.	.	.	.	D	0.93462	0.7914	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.93842	0.7137	9	0.54805	T	0.06	-13.9344	19.1132	0.93326	0.0:1.0:0.0:0.0	.	243	Q6ZN18	AEBP2_HUMAN	S	14;14;243;177;243;27	ENSP00000444255:P14S;ENSP00000437983:P14S;ENSP00000381840:P243S;ENSP00000266508:P243S;ENSP00000354267:P27S	ENSP00000266508:P243S	P	+	1	0	AEBP2	19506766	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.320000	0.79064	2.736000	0.93811	0.655000	0.94253	CCA	AEBP2	-	NULL		0.408	AEBP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AEBP2	HGNC	protein_coding	OTTHUMT00000401575.1	C	NM_153207		19615499	+1	no_errors	ENST00000398864	ensembl	human	known	70_37	missense	SNP	1.000	T
AGBL3	340351	genome.wustl.edu	37	7	134678270	134678270	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr7:134678270C>T	ENST00000436302.2	+	4	404	c.151C>T	c.(151-153)Ccc>Tcc	p.P51S	AGBL3_ENST00000494702.2_3'UTR|AGBL3_ENST00000359383.3_Missense_Mutation_p.P51S|AGBL3_ENST00000435976.2_Missense_Mutation_p.P51S|AGBL3_ENST00000458078.1_Missense_Mutation_p.P25S	NM_178563.3	NP_848658.3	Q8NEM8	CBPC3_HUMAN	ATP/GTP binding protein-like 3	51						cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|lung(2)|skin(3)	10						TCCCTTCTTCCCCCGGACTAC	0.408																																																	0													175.0	137.0	149.0					7																	134678270		692	1591	2283	SO:0001583	missense	340351			BC030651	CCDS47718.1	7q33	2014-06-23			ENSG00000146856	ENSG00000146856			27981	protein-coding gene	gene with protein product							Standard	NM_178563		Approved	MGC32955, CCP3	uc011kpw.2	Q8NEM8	OTTHUMG00000155406	ENST00000436302.2:c.151C>T	7.37:g.134678270C>T	ENSP00000388275:p.Pro51Ser		B7Z827|Q9H965	Missense_Mutation	SNP	pfam_Peptidase_M14	p.P25S	ENST00000436302.2	37	c.73	CCDS47718.1	7	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545707	0.65198	.	.	ENSG00000146856	ENST00000436302;ENST00000359383;ENST00000458078;ENST00000435976	T;T;T;T	0.31769	3.0;1.48;2.99;3.01	5.66	4.73	0.59995	.	0.162323	0.41823	D	0.000817	T	0.26448	0.0646	N	0.17474	0.49	0.33052	D	0.532829	P	0.48089	0.905	P	0.47645	0.553	T	0.29088	-1.0023	10	0.51188	T	0.08	-9.9405	14.3312	0.66559	0.1491:0.8509:0.0:0.0	.	51	Q8NEM8-4	.	S	51;51;25;51	ENSP00000388275:P51S;ENSP00000352343:P51S;ENSP00000395969:P25S;ENSP00000401220:P51S	ENSP00000275763:P51S	P	+	1	0	AGBL3	134328810	1.000000	0.71417	0.998000	0.56505	0.880000	0.50808	2.916000	0.48813	2.654000	0.90174	0.650000	0.86243	CCC	AGBL3	-	NULL		0.408	AGBL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL3	HGNC	protein_coding	OTTHUMT00000376655.1	C	NM_178563		134678270	+1	no_errors	ENST00000458078	ensembl	human	known	70_37	missense	SNP	0.982	T
AGBL3	340351	genome.wustl.edu	37	7	134678382	134678382	+	Missense_Mutation	SNP	G	G	A	rs541084151		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr7:134678382G>A	ENST00000436302.2	+	4	516	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	AGBL3_ENST00000494702.2_3'UTR|AGBL3_ENST00000359383.3_Missense_Mutation_p.R88Q|AGBL3_ENST00000435976.2_Missense_Mutation_p.R88Q|AGBL3_ENST00000458078.1_Missense_Mutation_p.R62Q	NM_178563.3	NP_848658.3	Q8NEM8	CBPC3_HUMAN	ATP/GTP binding protein-like 3	88						cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|lung(2)|skin(3)	10						AGCCCAACACGGTGGCCATAC	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17554	0.0		0.0	False		,,,				2504	0.0																0													176.0	140.0	151.0					7																	134678382		692	1591	2283	SO:0001583	missense	340351			BC030651	CCDS47718.1	7q33	2014-06-23			ENSG00000146856	ENSG00000146856			27981	protein-coding gene	gene with protein product							Standard	NM_178563		Approved	MGC32955, CCP3	uc011kpw.2	Q8NEM8	OTTHUMG00000155406	ENST00000436302.2:c.263G>A	7.37:g.134678382G>A	ENSP00000388275:p.Arg88Gln		B7Z827|Q9H965	Missense_Mutation	SNP	pfam_Peptidase_M14	p.R62Q	ENST00000436302.2	37	c.185	CCDS47718.1	7	.	.	.	.	.	.	.	.	.	.	G	35	5.533962	0.96460	.	.	ENSG00000146856	ENST00000436302;ENST00000359383;ENST00000458078;ENST00000435976	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.74	5.74	0.90152	.	0.116572	0.56097	D	0.000021	T	0.59018	0.2163	M	0.77616	2.38	0.35531	D	0.802219	D	0.89917	1.0	D	0.72075	0.976	T	0.68519	-0.5387	10	0.66056	D	0.02	-11.2673	18.6947	0.91596	0.0:0.0:1.0:0.0	.	88	Q8NEM8-4	.	Q	88;88;62;88	ENSP00000388275:R88Q;ENSP00000352343:R88Q;ENSP00000395969:R62Q;ENSP00000401220:R88Q	ENSP00000275763:R88Q	R	+	2	0	AGBL3	134328922	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.654000	0.67974	2.700000	0.92200	0.650000	0.86243	CGG	AGBL3	-	NULL		0.433	AGBL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	AGBL3	HGNC	protein_coding	OTTHUMT00000376655.1	G	NM_178563		134678382	+1	no_errors	ENST00000458078	ensembl	human	known	70_37	missense	SNP	1.000	A
ANHX	647589	genome.wustl.edu	37	12	133804466	133804466	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr12:133804466C>T	ENST00000545940.1	-	3	2183	c.445G>A	c.(445-447)Gag>Aag	p.E149K	ANHX_ENST00000419717.1_Missense_Mutation_p.E149K			E9PGG2	ANHX_HUMAN	anomalous homeobox	149					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)										TGCAGCTTCTCACGAACCTCT	0.607																																																	0																																										SO:0001583	missense	647589				CCDS53855.1	12q24.33	2012-05-18			ENSG00000227059	ENSG00000227059			40024	protein-coding gene	gene with protein product							Standard	NM_001191054		Approved		uc010tci.2	E9PGG2	OTTHUMG00000167949	ENST00000545940.1:c.445G>A	12.37:g.133804466C>T	ENSP00000439513:p.Glu149Lys		Q96MC1	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E149K	ENST00000545940.1	37	c.445	CCDS53855.1	12	.	.	.	.	.	.	.	.	.	.	.	3.390	-0.124493	0.06795	.	.	ENSG00000227059	ENST00000545940;ENST00000419717	D;D	0.95412	-3.7;-3.7	3.98	2.01	0.26516	.	.	.	.	.	D	0.87095	0.6092	N	0.10837	0.055	0.23886	N	0.996565	B	0.10296	0.003	B	0.14023	0.01	T	0.74881	-0.3513	8	.	.	.	.	6.4942	0.22133	0.0:0.2143:0.5881:0.1975	.	149	E9PGG2	.	K	149	ENSP00000439513:E149K;ENSP00000409950:E149K	.	E	-	1	0	AC226150.2	.	0.992000	0.36948	0.069000	0.20011	0.176000	0.22953	1.865000	0.39479	0.227000	0.20999	-0.502000	0.04539	GAG	ANHX	-	superfamily_Homeodomain-like,smart_Homeodomain		0.607	ANHX-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ANHX	HGNC	protein_coding	OTTHUMT00000397203.1	C			133804466	-1	no_errors	ENST00000419717	ensembl	human	known	70_37	missense	SNP	0.905	T
BCORL1	63035	genome.wustl.edu	37	X	129171479	129171479	+	Silent	SNP	C	C	T	rs145380229	byFrequency	TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chrX:129171479C>T	ENST00000218147.7	+	9	4640	c.4443C>T	c.(4441-4443)aaC>aaT	p.N1481N	BCORL1_ENST00000540052.1_Silent_p.N1481N|BCORL1_ENST00000303743.5_Silent_p.N1555N|BCORL1_ENST00000359304.2_Silent_p.N1351N			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1481					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACGGGGCCAACGTGAACTGCA	0.617																																																	0								C		1,3834		0,0,1,1632,570	111.0	81.0	91.0		4443	-10.4	0.8	X	dbSNP_134	91	0,6728		0,0,0,2428,1872	no	coding-synonymous	BCORL1	NM_021946.4		0,0,1,4060,2442	TT,TC,T,CC,C		0.0,0.0261,0.0095		1481/1712	129171479	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.4443C>T	X.37:g.129171479C>T			B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.N1555	ENST00000218147.7	37	c.4665	CCDS14616.1	X																																																																																			BCORL1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.617	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	C	NM_021946		129171479	+1	no_errors	ENST00000303743	ensembl	human	known	70_37	silent	SNP	0.481	T
BDKRB2	624	genome.wustl.edu	37	14	96707124	96707124	+	Silent	SNP	C	C	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr14:96707124C>T	ENST00000306005.3	+	3	655	c.459C>T	c.(457-459)atC>atT	p.I153I	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000554311.1_Silent_p.I153I|BDKRB2_ENST00000539359.1_Silent_p.I126I|BDKRB2_ENST00000542454.2_Silent_p.I126I	NM_000623.3	NP_000614.1	P30411	BKRB2_HUMAN	bradykinin receptor B2	153					arachidonic acid secretion (GO:0050482)|blood circulation (GO:0008015)|cell surface receptor signaling pathway (GO:0007166)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress by p53 class mediator (GO:1902239)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of vascular permeability (GO:0043114)|regulation of vasoconstriction (GO:0019229)|response to salt stress (GO:0009651)|smooth muscle contraction (GO:0006939)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|phosphatidylinositol phospholipase C activity (GO:0004435)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|type 1 angiotensin receptor binding (GO:0031702)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)	Icatibant(DB06196)	TGGTGAGCATCGACCGCTACC	0.592																																																	0													123.0	124.0	124.0					14																	96707124		2203	4300	6503	SO:0001819	synonymous_variant	624			S56772	CCDS9942.1	14q32.1-q32.2	2012-08-08				ENSG00000168398		"""GPCR / Class A : Bradykinin receptors"""	1030	protein-coding gene	gene with protein product		113503				7916737	Standard	NM_000623		Approved	BK-2	uc010avm.1	P30411		ENST00000306005.3:c.459C>T	14.37:g.96707124C>T				Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_B2_bradkn_rcpt,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt,prints_ATII_rcpt	p.I153	ENST00000306005.3	37	c.459	CCDS9942.1	14																																																																																			BDKRB2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.592	BDKRB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	BDKRB2	HGNC	protein_coding	OTTHUMT00000413294.1	C			96707124	+1	no_errors	ENST00000306005	ensembl	human	known	70_37	silent	SNP	0.859	T
BSPH1	100131137	genome.wustl.edu	37	19	48495318	48495318	+	Silent	SNP	G	G	C			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr19:48495318G>C	ENST00000344839.3	-	1	109	c.21C>G	c.(19-21)ctC>ctG	p.L7L	ELSPBP1_ENST00000339841.2_5'Flank|ELSPBP1_ENST00000597519.1_5'Flank	NM_001128326.2	NP_001121798.1	Q075Z2	BSPH1_HUMAN	binder of sperm protein homolog 1	7					single fertilization (GO:0007338)|sperm capacitation (GO:0048240)	cell surface (GO:0009986)|extracellular region (GO:0005576)	heparin binding (GO:0008201)			stomach(2)	2						TTTCCACGAAGAGAAGCATCA	0.473																																																	0													71.0	60.0	64.0					19																	48495318		692	1591	2283	SO:0001819	synonymous_variant	100131137			DQ227497	CCDS46135.1	19q13.32	2012-09-20				ENSG00000188334			33906	protein-coding gene	gene with protein product	"""epididymal sperm binding protein 2"", ""bovine seminal plasma protein homolog 1"""	612213				17085770, 18923155	Standard	NM_001128326		Approved	ELSPBP2, BSP1	uc002phs.1	Q075Z2		ENST00000344839.3:c.21C>G	19.37:g.48495318G>C			A6NIZ5	Silent	SNP	pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.L7	ENST00000344839.3	37	c.21	CCDS46135.1	19																																																																																			BSPH1	-	NULL		0.473	BSPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BSPH1	HGNC	protein_coding	OTTHUMT00000465206.1	G	NM_001128326		48495318	-1	no_errors	ENST00000344839	ensembl	human	known	70_37	silent	SNP	0.000	C
C10orf62	414157	genome.wustl.edu	37	10	99350069	99350069	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr10:99350069C>T	ENST00000370640.3	+	1	620	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Intron|HOGA1_ENST00000370646.4_Intron|PI4K2A_ENST00000370649.3_Intron	NM_001009997.2	NP_001009997.2	Q5T681	CJ062_HUMAN	chromosome 10 open reading frame 62	139										endometrium(2)|kidney(1)|lung(1)	4		Colorectal(252;0.162)		Epithelial(162;9.58e-11)|all cancers(201;8.62e-09)		CACCCAGGGGCGGCACCTGGC	0.612																																																	0													46.0	48.0	47.0					10																	99350069		2203	4300	6503	SO:0001583	missense	414157				CCDS31261.1	10q24.2	2012-05-31			ENSG00000203942	ENSG00000203942			23294	protein-coding gene	gene with protein product							Standard	NM_001009997		Approved	bA548K23.1	uc001koa.3	Q5T681	OTTHUMG00000018858	ENST00000370640.3:c.415C>T	10.37:g.99350069C>T	ENSP00000359674:p.Arg139Trp		Q49A70|Q8N3Y6	Missense_Mutation	SNP	NULL	p.R139W	ENST00000370640.3	37	c.415	CCDS31261.1	10	.	.	.	.	.	.	.	.	.	.	C	11.87	1.766772	0.31320	.	.	ENSG00000203942	ENST00000370640	T	0.52295	0.67	5.27	4.36	0.52297	.	0.402479	0.18107	U	0.151463	T	0.48502	0.1503	N	0.14661	0.345	0.23304	N	0.997945	D	0.76494	0.999	D	0.64687	0.928	T	0.41106	-0.9527	10	0.72032	D	0.01	-7.837	11.3891	0.49804	0.1805:0.8195:0.0:0.0	.	139	Q5T681	CJ062_HUMAN	W	139	ENSP00000359674:R139W	ENSP00000359674:R139W	R	+	1	2	C10orf62	99340059	0.002000	0.14202	0.034000	0.17996	0.035000	0.12851	1.369000	0.34227	1.209000	0.43321	0.643000	0.83706	CGG	C10orf62	-	NULL		0.612	C10orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf62	HGNC	protein_coding	OTTHUMT00000049723.1	C	NM_001009997		99350069	+1	no_errors	ENST00000370640	ensembl	human	known	70_37	missense	SNP	0.013	T
C17orf53	78995	genome.wustl.edu	37	17	42232292	42232292	+	Silent	SNP	C	C	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr17:42232292C>T	ENST00000319977.4	+	7	1870	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	C17orf53_ENST00000245382.6_Silent_p.L469L|C17orf53_ENST00000585683.1_Silent_p.L544L	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	545										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TGGCTCAGTGCTGCTGCTGAA	0.587																																																	0													70.0	60.0	64.0					17																	42232292		2203	4300	6503	SO:0001819	synonymous_variant	78995			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.1633C>T	17.37:g.42232292C>T			A8K7A9|Q9BWM9|Q9HAI1	Silent	SNP	NULL	p.L545	ENST00000319977.4	37	c.1633	CCDS11477.1	17																																																																																			C17orf53	-	NULL		0.587	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf53	HGNC	protein_coding	OTTHUMT00000457697.1	C	NM_024032		42232292	+1	no_errors	ENST00000319977	ensembl	human	known	70_37	silent	SNP	1.000	T
C4B	721	genome.wustl.edu	37	6	31996297	31996297	+	Missense_Mutation	SNP	G	G	A	rs2258218	byFrequency	TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr6:31996297G>A	ENST00000435363.2	+	25	3302	c.3218G>A	c.(3217-3219)gGc>gAc	p.G1073D	C4B_ENST00000425700.2_Missense_Mutation_p.G1073D	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1073			G -> D (in allotype C4B2 and allotype C4B5-Rg1). {ECO:0000269|PubMed:6546707, ECO:0000269|Ref.3}.		complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	TTGTCACGGGGCAGCAGCACC	0.617																																																	0													80.0	64.0	69.0					6																	31996297		2166	4204	6370	SO:0001583	missense	721			AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"""Blood group antigens"", ""Complement system"""	1324	protein-coding gene	gene with protein product		120820	"""complement component 4B"""				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3218G>A	6.37:g.31996297G>A	ENSP00000415941:p.Gly1073Asp		A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.G1073D	ENST00000435363.2	37	c.3218	CCDS47405.1	6	.	.	.	.	.	.	.	.	.	.	A	0.006	-2.023980	0.00414	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.12774	2.65;2.65	4.65	2.05	0.26809	.	.	.	.	.	T	0.00695	0.0023	N	0.00268	-1.735	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.45920	-0.9228	9	0.16896	T	0.51	.	3.9306	0.09283	0.6287:0.1801:0.1913:0.0	.	1073;1073	F5GXS0;Q6U2E9	.;.	D	1073	ENSP00000415941:G1073D;ENSP00000391933:G1073D	ENSP00000391933:G1073D	G	+	2	0	C4B	32104275	0.000000	0.05858	0.241000	0.24154	0.036000	0.12997	-0.332000	0.07904	0.169000	0.19679	-1.524000	0.00929	GGC	C4B	-	pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase		0.617	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4B	HGNC	protein_coding	OTTHUMT00000076368.5	G	NM_001002029		31996297	+1	no_errors	ENST00000435363	ensembl	human	known	70_37	missense	SNP	0.060	A
CASP5	838	genome.wustl.edu	37	11	104878040	104878041	+	Frame_Shift_Ins	INS	-	-	T	rs112680102|rs144697764		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr11:104878040_104878041insT	ENST00000260315.3	-	3	201_202	c.202_203insA	c.(202-204)acafs	p.T68fs	CASP5_ENST00000531367.1_Intron|CASP5_ENST00000393139.2_Frame_Shift_Ins_p.T35fs|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000526056.1_Frame_Shift_Ins_p.T81fs|CASP5_ENST00000444749.2_Frame_Shift_Ins_p.T10fs|CASP5_ENST00000393141.2_Frame_Shift_Ins_p.T81fs			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	68	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.T52fs*26(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CATCTTAACTGTTTTTTTTTTG	0.356																																																	1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.203dupA	11.37:g.104878050_104878050dupT	ENSP00000260315:p.Thr68fs		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Ins	INS	pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.T81fs	ENST00000260315.3	37	c.242_241	CCDS8328.2	11																																																																																			CASP5	-	pfam_CARD,superfamily_DEATH-like,smart_CARD,pirsf_Caspase_IL-1_beta,pfscan_CARD		0.356	CASP5-001	KNOWN	basic|CCDS	protein_coding	CASP5	HGNC	protein_coding	OTTHUMT00000109397.2	-	NM_004347		104878041	-1	no_errors	ENST00000393141	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	T
CBR3	874	genome.wustl.edu	37	21	37504209	37504210	+	IGR	INS	-	-	AAAT	rs370019892|rs34772963|rs369958192	byFrequency	TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr21:37504209_37504210insAAAT	ENST00000290354.5	+	0	0				CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000608632.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3						cognition (GO:0050890)|phylloquinone catabolic process (GO:0042376)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	3-keto sterol reductase activity (GO:0000253)|carbonyl reductase (NADPH) activity (GO:0004090)|NADPH binding (GO:0070402)			kidney(1)|large_intestine(1)|lung(1)	3					Doxorubicin(DB00997)	TACACAACTCAaaataaataaa	0.243														4461	0.890775	0.9849	0.8242	5008	,	,		9529	0.8403		0.8857	False		,,,				2504	0.8681																0																																										SO:0001628	intergenic_variant	100506428			AB004854	CCDS13642.1	21q22.2	2011-09-14			ENSG00000159231	ENSG00000159231	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	1549	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 21C, member 2"""	603608				9740676, 19027726	Standard	NM_001236		Approved	SDR21C2	uc002yve.3	O75828	OTTHUMG00000086617		21.37:g.37504214_37504217dupAAAT			Q6FHP2	RNA	INS	-	NULL	ENST00000290354.5	37	NULL	CCDS13642.1	21																																																																																			CBR3-AS1	-	-		0.243	CBR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBR3-AS1	HGNC	protein_coding	OTTHUMT00000194632.1	-			37504210	-1	no_errors	ENST00000413862	ensembl	human	known	70_37	rna	INS	0.997:0.993	AAAT
CDH7	1005	genome.wustl.edu	37	18	63547856	63547856	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr18:63547856G>A	ENST00000397968.2	+	12	2510	c.2084G>A	c.(2083-2085)cGa>cAa	p.R695Q	CDH7_ENST00000323011.3_Missense_Mutation_p.R695Q	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	695					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTCCTGAGTCGACCAGCTTTT	0.458																																																	0													91.0	97.0	95.0					18																	63547856		2203	4300	6503	SO:0001583	missense	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2084G>A	18.37:g.63547856G>A	ENSP00000381058:p.Arg695Gln		Q9H157	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R695Q	ENST00000397968.2	37	c.2084	CCDS11993.1	18	.	.	.	.	.	.	.	.	.	.	G	17.77	3.470720	0.63625	.	.	ENSG00000081138	ENST00000323011;ENST00000397966;ENST00000397968	T;T	0.76060	-0.99;-0.99	5.37	5.37	0.77165	Cadherin, cytoplasmic domain (1);	0.072966	0.52532	D	0.000061	T	0.72542	0.3473	L	0.31578	0.945	0.58432	D	0.999993	P	0.51653	0.947	P	0.49012	0.598	T	0.73408	-0.3992	10	0.42905	T	0.14	.	19.1123	0.93321	0.0:0.0:1.0:0.0	.	695	Q9ULB5	CADH7_HUMAN	Q	695	ENSP00000319166:R695Q;ENSP00000381058:R695Q	ENSP00000319166:R695Q	R	+	2	0	CDH7	61698836	1.000000	0.71417	0.853000	0.33588	0.545000	0.35147	8.897000	0.92532	2.515000	0.84797	0.655000	0.94253	CGA	CDH7	-	pfam_Cadherin_cytoplasmic-dom		0.458	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH7	HGNC	protein_coding	OTTHUMT00000256217.2	G	NM_033646		63547856	+1	no_errors	ENST00000323011	ensembl	human	known	70_37	missense	SNP	1.000	A
CFHR3	10878	genome.wustl.edu	37	1	196749069	196749069	+	Missense_Mutation	SNP	A	A	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr1:196749069A>T	ENST00000367425.4	+	3	488	c.396A>T	c.(394-396)aaA>aaT	p.K132N	CFHR3_ENST00000471440.2_Missense_Mutation_p.K132N|CFHR3_ENST00000391985.3_Missense_Mutation_p.K132N	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	132	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.			K -> N (in Ref. 1; CAA48639). {ECO:0000305}.		blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GTACGGAGAAAGGCTGGTCTC	0.483																																																	0													89.0	87.0	87.0					1																	196749069		1904	4137	6041	SO:0001583	missense	10878			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.396A>T	1.37:g.196749069A>T	ENSP00000356395:p.Lys132Asn		B4DPR0|Q9UJ16	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.K132N	ENST00000367425.4	37	c.396	CCDS30958.1	1	.	.	.	.	.	.	.	.	.	.	.	0.052	-1.247677	0.01469	.	.	ENSG00000116785	ENST00000367425;ENST00000471440;ENST00000391985;ENST00000542253	T;T;T	0.64618	-0.11;-0.11;-0.11	3.67	-5.35	0.02697	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.12518	0.0304	N	0.00132	-2.035	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.0	T	0.34775	-0.9815	9	0.02654	T	1	.	0.1691	0.00111	0.292:0.2038:0.1478:0.3563	.	132;132;132	B4DPR0;Q02985;Q6NSD3	.;FHR3_HUMAN;.	N	132	ENSP00000356395:K132N;ENSP00000436258:K132N;ENSP00000375845:K132N	ENSP00000356395:K132N	K	+	3	2	CFHR3	195015692	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.400000	0.02504	-0.721000	0.04929	-1.284000	0.01376	AAA	CFHR3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.483	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR3	HGNC	protein_coding	OTTHUMT00000087505.2	A	NM_021023		196749069	+1	no_errors	ENST00000367425	ensembl	human	known	70_37	missense	SNP	0.008	T
CPA1	1357	genome.wustl.edu	37	7	130021600	130021600	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr7:130021600G>A	ENST00000011292.3	+	3	427	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	CPA1_ENST00000484324.1_Missense_Mutation_p.V5M	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	93					proteolysis (GO:0006508)	extracellular space (GO:0005615)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GATCGAGGACGTGCAGTCGCT	0.617											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													74.0	62.0	66.0					7																	130021600		2203	4300	6503	SO:0001583	missense	1357				CCDS5820.1	7q32	2012-02-10			ENSG00000091704	ENSG00000091704	3.4.17.1		2296	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase A"""	114850		CPA			Standard	NM_001868		Approved		uc003vpx.3	P15085	OTTHUMG00000157826	ENST00000011292.3:c.277G>A	7.37:g.130021600G>A	ENSP00000011292:p.Val93Met	1576	A4D1M1|Q53XU0|Q9BS67|Q9UCF2	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.V93M	ENST00000011292.3	37	c.277	CCDS5820.1	7	.	.	.	.	.	.	.	.	.	.	G	11.98	1.801221	0.31869	.	.	ENSG00000091704	ENST00000481342;ENST00000011292;ENST00000476062;ENST00000484324	T;T;T;T	0.56611	2.26;0.45;1.96;2.07	5.19	2.3	0.28687	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.259358	0.36303	N	0.002662	T	0.67608	0.2911	M	0.79475	2.455	0.27811	N	0.942147	D;D	0.76494	0.995;0.999	P;D	0.65773	0.752;0.938	T	0.62445	-0.6853	10	0.87932	D	0	.	9.7082	0.40229	0.0:0.2902:0.5592:0.1506	.	5;93	B4DDW9;P15085	.;CBPA1_HUMAN	M	5;93;5;5	ENSP00000420218:V5M;ENSP00000011292:V93M;ENSP00000419408:V5M;ENSP00000419497:V5M	ENSP00000011292:V93M	V	+	1	0	CPA1	129808836	0.255000	0.24002	0.510000	0.27712	0.054000	0.15201	0.482000	0.22276	0.185000	0.20105	-0.219000	0.12488	GTG	CPA1	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept		0.617	CPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPA1	HGNC	protein_coding	OTTHUMT00000349736.2	G	NM_001868		130021600	+1	no_errors	ENST00000011292	ensembl	human	known	70_37	missense	SNP	0.310	A
CTNND2	1501	genome.wustl.edu	37	5	11199587	11199587	+	Missense_Mutation	SNP	C	C	G			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr5:11199587C>G	ENST00000304623.8	-	11	2137	c.1948G>C	c.(1948-1950)Gac>Cac	p.D650H	CTNND2_ENST00000458100.2_Missense_Mutation_p.D217H|CTNND2_ENST00000359640.2_Missense_Mutation_p.D650H|CTNND2_ENST00000511377.1_Missense_Mutation_p.D559H|CTNND2_ENST00000503622.1_Missense_Mutation_p.D313H|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	650					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.D650N(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						ATCTCCAGGTCAGTCGTCTTG	0.428																																																	1	Substitution - Missense(1)	lung(1)											142.0	143.0	142.0					5																	11199587		2203	4300	6503	SO:0001583	missense	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1948G>C	5.37:g.11199587C>G	ENSP00000307134:p.Asp650His		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.D650H	ENST00000304623.8	37	c.1948	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	C	26.2	4.711726	0.89112	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.73047	-0.71;-0.71;-0.71;-0.71;-0.71	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86372	0.5917	M	0.83774	2.66	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	D	0.87370	0.2350	10	0.87932	D	0	-30.8748	20.0474	0.97616	0.0:1.0:0.0:0.0	.	313;217;650	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	H	650;650;559;217;313	ENSP00000307134:D650H;ENSP00000352661:D650H;ENSP00000426510:D559H;ENSP00000391155:D217H;ENSP00000426887:D313H	ENSP00000307134:D650H	D	-	1	0	CTNND2	11252587	1.000000	0.71417	0.983000	0.44433	0.996000	0.88848	7.484000	0.81180	2.722000	0.93159	0.655000	0.94253	GAC	CTNND2	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo		0.428	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	C	NM_001332		11199587	-1	no_errors	ENST00000304623	ensembl	human	known	70_37	missense	SNP	1.000	G
EHD4	30844	genome.wustl.edu	37	15	42211424	42211424	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr15:42211424C>T	ENST00000220325.4	-	4	991	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	CTD-2382E5.4_ENST00000564168.1_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	303					cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CAGCCTCGCTCGCTTGATGAG	0.632																																																	0													48.0	43.0	45.0					15																	42211424		2203	4299	6502	SO:0001583	missense	30844			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.908G>A	15.37:g.42211424C>T	ENSP00000220325:p.Arg303Gln		Q9HAR1|Q9NZN2	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.R303Q	ENST00000220325.4	37	c.908	CCDS10081.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.369597	0.95900	.	.	ENSG00000103966	ENST00000220325	D	0.95622	-3.76	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.98579	0.9525	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99782	1.1028	10	0.87932	D	0	-7.3038	18.6121	0.91290	0.0:1.0:0.0:0.0	.	303	Q9H223	EHD4_HUMAN	Q	303	ENSP00000220325:R303Q	ENSP00000220325:R303Q	R	-	2	0	EHD4	39998716	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.818000	0.86416	2.404000	0.81709	0.650000	0.86243	CGA	EHD4	-	NULL		0.632	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD4	HGNC	protein_coding	OTTHUMT00000252737.2	C	NM_139265		42211424	-1	no_errors	ENST00000220325	ensembl	human	known	70_37	missense	SNP	1.000	T
ELN	2006	genome.wustl.edu	37	7	73471762	73471762	+	Missense_Mutation	SNP	G	G	A	rs4464848		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr7:73471762G>A	ENST00000358929.4	+	22	1499	c.1408G>A	c.(1408-1410)Gca>Aca	p.A470T	ELN_ENST00000380553.4_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000320399.6_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000252034.7_Intron|ELN_ENST00000357036.5_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000380576.5_Intron|ELN_ENST00000429192.1_Intron|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000414324.1_Intron|ELN_ENST00000445912.1_Intron	NM_001278939.1	NP_001265868.1	P15502	ELN_HUMAN	elastin	0	Ala-rich.				blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				TGCCCCAGGCGCAGTCCCAGG	0.617			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																																	Dom	yes		7	7q11.23	2006	elastin	yes	L	0													19.0	19.0	19.0					7																	73471762		876	1991	2867	SO:0001583	missense	2006				CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000358929.4:c.1408G>A	7.37:g.73471762G>A	ENSP00000351807:p.Ala470Thr		B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	prints_Tropoelastin	p.A470T	ENST00000358929.4	37	c.1408		7	.	.	.	.	.	.	.	.	.	.	g	11.12	1.543839	0.27563	.	.	ENSG00000049540	ENST00000358929	T	0.33654	1.4	3.71	0.733	0.18289	.	.	.	.	.	T	0.33962	0.0881	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28902	-1.0029	6	0.54805	T	0.06	.	7.2917	0.26370	0.3343:0.0:0.6657:0.0	.	.	.	.	T	470	ENSP00000351807:A470T	ENSP00000351807:A470T	A	+	1	0	ELN	73109698	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.182000	0.16900	0.168000	0.19655	-0.735000	0.03563	GCA	ELN	-	NULL		0.617	ELN-201	KNOWN	basic|appris_candidate_longest	protein_coding	ELN	HGNC	protein_coding		G	NM_000501		73471762	+1	no_errors	ENST00000358929	ensembl	human	known	70_37	missense	SNP	0.000	A
Unknown	0	genome.wustl.edu	37	GL000212.1	64653	64653	+	IGR	SNP	G	G	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chrGL000212.1:64653G>A								None (None upstream) : None (None downstream)																							CTTCGCCAACGGGGACGCCGC	0.692																																																	0																																										SO:0001628	intergenic_variant	0																															GL000212.1.37:g.64653G>A				Silent	SNP	NULL	p.T134		37	c.402		GL000212.1																																																																																			AL356585.1	-	NULL	0	0.692					ENSG00000212857	Clone_based_ensembl_gene			G			64653	+1	no_errors	ENST00000391545	ensembl	human	known	70_37	silent	SNP	NULL	A
YEATS2	55689	genome.wustl.edu	37	3	183520275	183520276	+	Intron	INS	-	-	TG	rs146218655|rs199651221|rs200684537|rs57389342|rs10663581		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr3:183520275_183520276insTG	ENST00000305135.5	+	26	3697				AC131160.1_ENST00000401347.1_RNA	NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCTCTtatatatgtgtgtgtgt	0.322																																																	0																																										SO:0001627	intron_variant	0			AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.3503-768->TG	3.37:g.183520284_183520285dupTG			A7E2B9|D3DNS9|Q641P6|Q9NW96	RNA	INS	-	NULL	ENST00000305135.5	37	NULL	CCDS43175.1	3																																																																																			AC131160.1	-	-		0.322	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216166	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000346507.2	-	NM_018023		183520276	-1	no_errors	ENST00000401347	ensembl	human	novel	70_37	rna	INS	0.001:0.000	TG
LINC00937	389634	genome.wustl.edu	37	12	8476956	8476956	+	lincRNA	SNP	G	G	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr12:8476956G>A	ENST00000544461.1	-	0	1081				AC092745.1_ENST00000408380.1_RNA|RP11-113C12.4_ENST00000537764.1_RNA|RP11-90D4.3_ENST00000535746.1_lincRNA					long intergenic non-protein coding RNA 937																		tttctcgctcgggcctccaAA	0.537																																																	0																																												0			BC073935		12p13.31	2013-05-30			ENSG00000226091	ENSG00000226091		"""Long non-coding RNAs"""	48629	non-coding RNA	RNA, long non-coding							Standard	NR_024420		Approved				OTTHUMG00000168663		12.37:g.8476956G>A				RNA	SNP	-	NULL	ENST00000544461.1	37	NULL		12																																																																																			AC092745.1	-	-		0.537	LINC00937-001	KNOWN	basic	lincRNA	ENSG00000221307	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000400511.1	G			8476956	+1	no_errors	ENST00000408380	ensembl	human	novel	70_37	rna	SNP	0.279	A
LINC00693	645206	genome.wustl.edu	37	3	28616706	28616706	+	RNA	SNP	G	G	C			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr3:28616706G>C	ENST00000432518.2	+	0	425				LINC00693_ENST00000445077.1_RNA|LINC00693_ENST00000443912.1_RNA	NR_038840.1				long intergenic non-protein coding RNA 693																		TGCAGTAAATGCCTGGCAGCG	0.642																																																	0																																												0					3p24.1	2012-11-14			ENSG00000228214	ENSG00000228214		"""Long non-coding RNAs"""	44526	non-coding RNA	RNA, long non-coding							Standard	NR_038840		Approved		uc021wur.1		OTTHUMG00000155718		3.37:g.28616706G>C				RNA	SNP	-	NULL	ENST00000432518.2	37	NULL		3																																																																																			AC109586.1	-	-		0.642	LINC00693-001	KNOWN	basic	antisense	ENSG00000228214	Clone_based_vega_gene	antisense	OTTHUMT00000341375.2	G			28616706	+1	no_errors	ENST00000432518	ensembl	human	known	70_37	rna	SNP	0.028	C
RP11-782C8.2	0	genome.wustl.edu	37	1	143210344	143210344	+	lincRNA	SNP	G	G	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr1:143210344G>A	ENST00000412204.2	-	0	726				RP11-782C8.1_ENST00000438000.1_lincRNA																							TCGTGATTACGAAAATCCTAA	0.294																																																	0																																												0																															1.37:g.143210344G>A				RNA	SNP	-	NULL	ENST00000412204.2	37	NULL		1																																																																																			BX571672.2	-	-		0.294	RP11-782C8.2-004	KNOWN	basic	lincRNA	ENSG00000232274	Clone_based_vega_gene	lincRNA	OTTHUMT00000037567.2	G			143210344	-1	no_errors	ENST00000412204	ensembl	human	known	70_37	rna	SNP	0.006	A
GIPR	2696	genome.wustl.edu	37	19	46174549	46174549	+	Missense_Mutation	SNP	C	C	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr19:46174549C>A	ENST00000590918.1	+	4	278	c.179C>A	c.(178-180)gCc>gAc	p.A60D	GIPR_ENST00000304207.8_Intron|GIPR_ENST00000263281.3_Missense_Mutation_p.A60D	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	60					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)	p.A60V(1)		endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CCAGGCCTCGCCTGTAACGGG	0.657																																																	1	Substitution - Missense(1)	skin(1)											109.0	88.0	95.0					19																	46174549		2203	4300	6503	SO:0001583	missense	2696				CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.179C>A	19.37:g.46174549C>A	ENSP00000467494:p.Ala60Asp		B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.A60D	ENST00000590918.1	37	c.179	CCDS12671.1	19	.	.	.	.	.	.	.	.	.	.	C	18.18	3.566009	0.65651	.	.	ENSG00000010310	ENST00000263281	T	0.64085	-0.08	5.49	4.46	0.54185	GPCR, family 2, extracellular hormone receptor domain (3);	0.122392	0.37348	N	0.002131	T	0.53690	0.1812	L	0.39898	1.24	0.80722	D	1	B;B	0.26876	0.161;0.162	B;B	0.36504	0.226;0.091	T	0.52510	-0.8566	10	0.37606	T	0.19	.	7.4425	0.27192	0.0:0.8211:0.0:0.1789	.	60;60	P48546;P48546-2	GIPR_HUMAN;.	D	60	ENSP00000263281:A60D	ENSP00000263281:A60D	A	+	2	0	GIPR	50866389	1.000000	0.71417	1.000000	0.80357	0.822000	0.46500	3.843000	0.55865	2.592000	0.87571	0.542000	0.68232	GCC	GIPR	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,pfscan_GPCR_2_extracellular_dom		0.657	GIPR-001	KNOWN	basic|CCDS	protein_coding	GIPR	HGNC	protein_coding	OTTHUMT00000459640.1	C			46174549	+1	no_errors	ENST00000590918	ensembl	human	known	70_37	missense	SNP	1.000	A
GREB1L	80000	genome.wustl.edu	37	18	19093834	19093834	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr18:19093834G>C	ENST00000580732.2	+	28	5169	c.4788G>C	c.(4786-4788)gaG>gaC	p.E1596D	GREB1L_ENST00000269218.6_Missense_Mutation_p.E1487D|GREB1L_ENST00000424526.1_Missense_Mutation_p.E1596D|GREB1L_ENST00000400483.4_3'UTR			Q9C091	GRB1L_HUMAN	growth regulation by estrogen in breast cancer-like	1596						integral component of membrane (GO:0016021)				breast(5)|endometrium(4)|kidney(6)|lung(1)|skin(1)	17						TAGAATTGGAGAGAAACCGCC	0.478																																																	0													150.0	128.0	135.0					18																	19093834		692	1591	2283	SO:0001583	missense	80000			AK023749	CCDS45836.1	18q11.2	2009-09-08	2009-09-08	2009-09-08					31042	protein-coding gene	gene with protein product			"""KIAA1772"""	KIAA1772		11214970	Standard	NM_001142966		Approved	FLJ13687, C18orf6	uc010xam.2	Q9C091		ENST00000580732.2:c.4788G>C	18.37:g.19093834G>C	ENSP00000464162:p.Glu1596Asp		A4QN17|Q9H8F1	Missense_Mutation	SNP	NULL	p.E1596D	ENST00000580732.2	37	c.4788	CCDS45836.1	18	.	.	.	.	.	.	.	.	.	.	G	21.4	4.146331	0.77888	.	.	ENSG00000141449	ENST00000424526;ENST00000269218	T;T	0.51071	0.72;0.72	5.79	4.9	0.64082	.	.	.	.	.	T	0.66713	0.2817	M	0.75777	2.31	0.80722	D	1	D	0.71674	0.998	D	0.77557	0.99	T	0.69796	-0.5048	9	0.62326	D	0.03	-2.9655	11.9843	0.53138	0.145:0.0:0.855:0.0	.	1596	Q9C091	GRB1L_HUMAN	D	1596;1487	ENSP00000412060:E1596D;ENSP00000269218:E1487D	ENSP00000269218:E1487D	E	+	3	2	GREB1L	17347832	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.546000	0.45778	1.414000	0.47017	0.655000	0.94253	GAG	GREB1L	-	NULL		0.478	GREB1L-003	KNOWN	not_organism_supported|upstream_uORF|basic|appris_principal|CCDS	protein_coding	GREB1L	HGNC	protein_coding	OTTHUMT00000443782.2	G	NM_024935		19093834	+1	no_errors	ENST00000424526	ensembl	human	known	70_37	missense	SNP	1.000	C
HAPLN3	145864	genome.wustl.edu	37	15	89421436	89421436	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr15:89421436C>T	ENST00000359595.3	-	5	1062	c.848G>A	c.(847-849)aGg>aAg	p.R283K	HAPLN3_ENST00000562889.1_Missense_Mutation_p.R345K	NM_178232.2	NP_839946.1	Q96S86	HPLN3_HUMAN	hyaluronan and proteoglycan link protein 3	283	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323, ECO:0000305}.				cell adhesion (GO:0007155)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)				Hyaluronan(DB08818)	GCAGGCCTCCCTTGCCTCTGT	0.657																																																	0													144.0	131.0	136.0					15																	89421436		2200	4299	6499	SO:0001583	missense	145864			AY262759	CCDS10346.1	15q26.1	2013-01-11			ENSG00000140511	ENSG00000140511		"""Immunoglobulin superfamily / V-set domain containing"""	21446	protein-coding gene	gene with protein product			"""extracellular link domain containing, 1"""	EXLD1		12663660	Standard	NM_178232		Approved	HsT19883	uc002bnc.3	Q96S86	OTTHUMG00000148680	ENST00000359595.3:c.848G>A	15.37:g.89421436C>T	ENSP00000352606:p.Arg283Lys		A8K7P0	Missense_Mutation	SNP	pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like,prints_Link	p.R283K	ENST00000359595.3	37	c.848	CCDS10346.1	15	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.816929	0.00595	.	.	ENSG00000140511	ENST00000359595	T	0.28255	1.62	4.7	-3.35	0.04928	C-type lectin fold (1);Link (3);C-type lectin-like (1);	1.109350	0.06658	N	0.763906	T	0.13329	0.0323	N	0.13235	0.315	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.004	T	0.33007	-0.9885	10	0.06099	T	0.92	-13.9042	6.5173	0.22254	0.0:0.4166:0.1305:0.4529	.	283;283	A8K7T8;Q96S86	.;HPLN3_HUMAN	K	283	ENSP00000352606:R283K	ENSP00000352606:R283K	R	-	2	0	HAPLN3	87222440	0.001000	0.12720	0.003000	0.11579	0.013000	0.08279	-0.096000	0.11059	-0.888000	0.03956	-0.813000	0.03139	AGG	HAPLN3	-	pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link		0.657	HAPLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAPLN3	HGNC	protein_coding	OTTHUMT00000309070.1	C	NM_178232		89421436	-1	no_errors	ENST00000359595	ensembl	human	known	70_37	missense	SNP	0.000	T
HIF3A	64344	genome.wustl.edu	37	19	46807342	46807342	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr19:46807342G>A	ENST00000377670.4	+	2	245	c.214G>A	c.(214-216)Gca>Aca	p.A72T	RNU6-924P_ENST00000362926.1_RNA|HIF3A_ENST00000339613.2_Missense_Mutation_p.A16T|HIF3A_ENST00000300862.3_Missense_Mutation_p.A70T|HIF3A_ENST00000244303.6_Silent_p.P51P|HIF3A_ENST00000420102.2_Silent_p.P69P|HIF3A_ENST00000472815.1_Silent_p.P51P|HIF3A_ENST00000600383.1_Silent_p.P51P	NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	72					cellular response to hypoxia (GO:0071456)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCTCTGCGCCGCAGGTGAGCC	0.662																																																	0													4.0	6.0	5.0					19																	46807342		2127	4159	6286	SO:0001583	missense	64344			AK027725	CCDS12681.2, CCDS12682.1, CCDS42580.1, CCDS42580.2	19q13	2013-05-21			ENSG00000124440	ENSG00000124440		"""Basic helix-loop-helix proteins"""	15825	protein-coding gene	gene with protein product		609976				11573933, 11734856	Standard	NM_152794		Approved	IPAS, MOP7, PASD7, bHLHe17	uc002peh.3	Q9Y2N7	OTTHUMG00000141296	ENST00000377670.4:c.214G>A	19.37:g.46807342G>A	ENSP00000366898:p.Ala72Thr		B0M185|B4DNA2|Q58A43|Q66K72|Q8WXA1|Q96K34|Q9H7Z9|Q9HAI2	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS	p.A72T	ENST00000377670.4	37	c.214	CCDS12681.2	19	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041509	0.35989	.	.	ENSG00000124440	ENST00000475432;ENST00000244302;ENST00000377670;ENST00000414707;ENST00000339613;ENST00000472815;ENST00000291300;ENST00000300862	T;T;T	0.56611	0.52;0.45;0.52	4.68	3.64	0.41730	Helix-loop-helix DNA-binding (2);	0.352724	0.20785	N	0.085727	T	0.28101	0.0693	N	0.12637	0.245	0.38939	D	0.958113	P;P;P;P;B	0.43314	0.803;0.703;0.703;0.663;0.271	B;B;B;B;B	0.32724	0.151;0.048;0.072;0.097;0.086	T	0.11690	-1.0577	10	0.21540	T	0.41	.	12.3565	0.55178	0.0:0.0:0.83:0.17	.	70;16;72;72;72	Q9Y2N7-2;A8MPQ1;Q9Y2N7;B0M185;E7EWV6	.;.;HIF3A_HUMAN;.;.	T	72;72;72;72;16;93;16;70	ENSP00000366898:A72T;ENSP00000341877:A16T;ENSP00000300862:A70T	ENSP00000244302:A72T	A	+	1	0	HIF3A	51499182	0.009000	0.17119	1.000000	0.80357	0.510000	0.34073	0.410000	0.21098	1.331000	0.45412	-0.261000	0.10672	GCA	HIF3A	-	superfamily_HLH_dom,smart_HLH_dom		0.662	HIF3A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIF3A	HGNC	protein_coding	OTTHUMT00000280556.3	G			46807342	+1	no_errors	ENST00000377670	ensembl	human	known	70_37	missense	SNP	1.000	A
IDH3G	3421	genome.wustl.edu	37	X	153055288	153055288	+	Intron	SNP	C	C	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chrX:153055288C>T	ENST00000217901.5	-	5	430				IDH3G_ENST00000370092.3_Intron|IDH3G_ENST00000427365.2_Intron|IDH3G_ENST00000497043.1_Intron|IDH3G_ENST00000370093.1_Intron	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma						carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGAGGCACGGCAGGGTCA	0.617																																																	0													61.0	41.0	48.0					X																	153055288		2200	4299	6499	SO:0001627	intron_variant	3421				CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.234-9G>A	X.37:g.153055288C>T			E9PDD5|Q9BUU5	RNA	SNP	-	NULL	ENST00000217901.5	37	NULL	CCDS14730.1	X																																																																																			IDH3G	-	-		0.617	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3G	HGNC	protein_coding	OTTHUMT00000061084.27	C			153055288	-1	no_errors	ENST00000479521	ensembl	human	known	70_37	rna	SNP	0.000	T
IQGAP1	8826	genome.wustl.edu	37	15	90996413	90996413	+	Missense_Mutation	SNP	C	C	T	rs546591604		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr15:90996413C>T	ENST00000268182.5	+	13	1500	c.1376C>T	c.(1375-1377)tCg>tTg	p.S459L	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	459					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATGTTGTCATCGGTGGCCCTG	0.468																																																	0													187.0	172.0	177.0					15																	90996413		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1376C>T	15.37:g.90996413C>T	ENSP00000268182:p.Ser459Leu		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.S459L	ENST00000268182.5	37	c.1376	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	C	15.21	2.765207	0.49574	.	.	ENSG00000140575	ENST00000268182	T	0.11495	2.77	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.12860	0.0312	L	0.50333	1.59	0.80722	D	1	P	0.43477	0.808	B	0.36666	0.23	T	0.02244	-1.1189	10	0.72032	D	0.01	-9.6923	17.6244	0.88091	0.0:1.0:0.0:0.0	.	459	P46940	IQGA1_HUMAN	L	459	ENSP00000268182:S459L	ENSP00000268182:S459L	S	+	2	0	IQGAP1	88797417	1.000000	0.71417	0.100000	0.21137	0.104000	0.19210	7.588000	0.82629	2.635000	0.89317	0.655000	0.94253	TCG	IQGAP1	-	NULL		0.468	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	C	NM_003870		90996413	+1	no_errors	ENST00000268182	ensembl	human	known	70_37	missense	SNP	0.937	T
ITGAE	3682	genome.wustl.edu	37	17	3655127	3655127	+	Silent	SNP	G	G	A	rs144011498		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr17:3655127G>A	ENST00000263087.4	-	15	1808	c.1710C>T	c.(1708-1710)ccC>ccT	p.P570P		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	570					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGGTGAACCCGGGGTGCCCAC	0.572																																					NSCLC(182;635 2928 8995 38788)												0								G		0,4406		0,0,2203	60.0	63.0	62.0		1710	-7.8	0.0	17	dbSNP_134	62	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	ITGAE	NM_002208.4		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		570/1180	3655127	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.1710C>T	17.37:g.3655127G>A			Q17RS6|Q9NZU9	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A	p.P570	ENST00000263087.4	37	c.1710	CCDS32531.1	17																																																																																			ITGAE	-	NULL		0.572	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	HGNC	protein_coding	OTTHUMT00000438169.1	G	NM_002208		3655127	-1	no_errors	ENST00000263087	ensembl	human	known	70_37	silent	SNP	0.000	A
KIAA0195	9772	genome.wustl.edu	37	17	73491058	73491058	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr17:73491058G>A	ENST00000314256.7	+	20	3065	c.2671G>A	c.(2671-2673)Gag>Aag	p.E891K	KIAA0195_ENST00000375248.5_Missense_Mutation_p.E901K|KIAA0195_ENST00000579208.1_Missense_Mutation_p.E542K|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	891						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTGGCTCCGAGATCCCCCC	0.627																																																	0													57.0	62.0	61.0					17																	73491058		2203	4300	6503	SO:0001583	missense	9772				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2671G>A	17.37:g.73491058G>A	ENSP00000313885:p.Glu891Lys		O75536|Q86XF1	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.E891K	ENST00000314256.7	37	c.2671	CCDS32732.1	17	.	.	.	.	.	.	.	.	.	.	G	14.37	2.515992	0.44763	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	T;T	0.41065	1.01;1.01	5.66	5.66	0.87406	.	0.241788	0.42172	D	0.000743	T	0.32285	0.0824	L	0.29908	0.895	0.80722	D	1	P;P;P	0.50443	0.893;0.935;0.649	B;B;B	0.39027	0.15;0.288;0.097	T	0.06162	-1.0842	10	0.16896	T	0.51	-19.9095	19.7417	0.96234	0.0:0.0:1.0:0.0	.	901;901;891	B4DGC6;C9JL75;Q12767	.;.;K0195_HUMAN	K	891;901	ENSP00000313885:E891K;ENSP00000364397:E901K	ENSP00000313885:E891K	E	+	1	0	KIAA0195	71002653	1.000000	0.71417	0.987000	0.45799	0.223000	0.24884	9.119000	0.94362	2.667000	0.90743	0.563000	0.77884	GAG	KIAA0195	-	NULL		0.627	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	G	NM_014738		73491058	+1	no_errors	ENST00000314256	ensembl	human	known	70_37	missense	SNP	1.000	A
AP000525.9	0	genome.wustl.edu	37	22	16157762	16157762	+	RNA	SNP	C	C	T	rs199985193		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr22:16157762C>T	ENST00000447898.1	-	0	293				LL22NC03-N14H11.1_ENST00000608286.1_RNA																							CTCTTGGCTTCGGGGACCGCA	0.706																																																	0																																												101060615																															22.37:g.16157762C>T				Silent	SNP	NULL	p.P59	ENST00000447898.1	37	c.177		22																																																																																			AP000525.1	-	NULL		0.706	AP000525.9-002	KNOWN	basic	lincRNA	LOC101060615	Clone_based_ensembl_gene	processed_transcript	OTTHUMT00000276780.1	C			16157762	-1	no_errors	ENST00000383146	ensembl	human	known	70_37	silent	SNP	0.154	T
PDPK1	5170	genome.wustl.edu	37	16	2653460	2653460	+	IGR	SNP	G	G	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr16:2653460G>A	ENST00000342085.4	+	0	7241				AC141586.5_ENST00000399702.1_RNA	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1						actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	GTGTGGTGGGGCTTGCTGGGA	0.642																																																	0																																										SO:0001628	intergenic_variant	652276			AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874		16.37:g.2653460G>A			H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	RNA	SNP	-	NULL	ENST00000342085.4	37	NULL	CCDS10472.1	16																																																																																			AC141586.5	-	-		0.642	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC652276	Clone_based_vega_gene	protein_coding	OTTHUMT00000250831.3	G			2653460	+1	no_errors	ENST00000399702	ensembl	human	known	70_37	rna	SNP	1.000	A
MAPKAPK2	9261	genome.wustl.edu	37	1	206904595	206904595	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr1:206904595G>A	ENST00000367103.3	+	7	1073	c.880G>A	c.(880-882)Gta>Ata	p.V294I	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.V294I	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|arachidonic acid metabolic process (GO:0019369)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|G2 DNA damage checkpoint (GO:0031572)|gene expression (GO:0010467)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|leukotriene metabolic process (GO:0006691)|macropinocytosis (GO:0044351)|MAPK cascade (GO:0000165)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of interleukin-6 production (GO:0032675)|regulation of tumor necrosis factor production (GO:0032680)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|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)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			ATGGTCAGAAGTATCAGAGGA	0.537																																																	0													77.0	75.0	76.0					1																	206904595		2203	4300	6503	SO:0001583	missense	9261			U12779	CCDS1466.1, CCDS31001.1	1q32	2008-02-05			ENSG00000162889	ENSG00000162889			6887	protein-coding gene	gene with protein product		602006				8179591, 8280084	Standard	NM_004759		Approved		uc001hem.2	P49137	OTTHUMG00000036342	ENST00000367103.3:c.880G>A	1.37:g.206904595G>A	ENSP00000356070:p.Val294Ile		Q5SY30|Q5SY41|Q8IYD6	Missense_Mutation	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	p.V294I	ENST00000367103.3	37	c.880	CCDS31001.1	1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.536740	0.85812	.	.	ENSG00000162889	ENST00000294981;ENST00000367103	T;T	0.49139	0.79;0.79	5.46	5.46	0.80206	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	T	0.41971	0.1182	N	0.03999	-0.3	0.80722	D	1	B;P	0.49447	0.321;0.924	P;P	0.58577	0.701;0.841	T	0.35943	-0.9768	9	0.12766	T	0.61	-11.2774	17.8794	0.88835	0.0:0.0:1.0:0.0	.	294;294	P49137;P49137-2	MAPK2_HUMAN;.	I	294	ENSP00000294981:V294I;ENSP00000356070:V294I	ENSP00000294981:V294I	V	+	1	0	MAPKAPK2	204971218	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.841000	0.99482	2.567000	0.86603	0.655000	0.94253	GTA	MAPKAPK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.537	MAPKAPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPKAPK2	HGNC	protein_coding	OTTHUMT00000088465.1	G	NM_004759		206904595	+1	no_errors	ENST00000367103	ensembl	human	known	70_37	missense	SNP	1.000	A
MICAL1	64780	genome.wustl.edu	37	6	109769091	109769091	+	Missense_Mutation	SNP	C	C	T	rs137916380	byFrequency	TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr6:109769091C>T	ENST00000358807.3	-	14	2242	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	MICAL1_ENST00000368952.4_Missense_Mutation_p.R663Q|MICAL1_ENST00000358577.3_Missense_Mutation_p.R558Q	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	644					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGCCCGGGATCGCTGCAGGGT	0.622																																																	0													50.0	54.0	52.0					6																	109769091		2203	4300	6503	SO:0001583	missense	64780			AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1931G>A	6.37:g.109769091C>T	ENSP00000351664:p.Arg644Gln		B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM	p.R663Q	ENST00000358807.3	37	c.1988	CCDS5076.1	6	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474849	0.84640	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577;ENST00000368957	T;T;T	0.53206	0.66;0.66;0.63	5.27	5.27	0.74061	.	0.000000	0.64402	D	0.000004	T	0.43255	0.1239	L	0.36672	1.1	0.33811	D	0.627874	P;D;D	0.71674	0.751;0.998;0.997	B;D;D	0.75484	0.097;0.986;0.968	T	0.25257	-1.0137	10	0.13470	T	0.59	.	14.3847	0.66938	0.0:1.0:0.0:0.0	.	663;558;644	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	Q	644;663;558;168	ENSP00000351664:R644Q;ENSP00000357948:R663Q;ENSP00000351385:R558Q	ENSP00000351385:R558Q	R	-	2	0	MICAL1	109875784	0.995000	0.38212	0.999000	0.59377	0.828000	0.46876	1.883000	0.39658	2.461000	0.83175	0.609000	0.83330	CGA	MICAL1	-	NULL		0.622	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL1	HGNC	protein_coding	OTTHUMT00000041759.2	C	NM_022765		109769091	-1	no_errors	ENST00000368952	ensembl	human	known	70_37	missense	SNP	0.999	T
NEUROD1	4760	genome.wustl.edu	37	2	182543231	182543231	+	Silent	SNP	C	C	T	rs375774931		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr2:182543231C>T	ENST00000295108.3	-	2	814	c.357G>A	c.(355-357)gcG>gcA	p.A119A	NEUROD1_ENST00000496876.1_Intron|CERKL_ENST00000479558.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	119	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|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 regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.A119A(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGTCTAGCGCCGCGTTCAGTC	0.542																																																	1	Substitution - coding silent(1)	large_intestine(1)						C		0,4406		0,0,2203	83.0	77.0	79.0		357	-5.7	0.9	2		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	NEUROD1	NM_002500.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		119/357	182543231	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4760			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.357G>A	2.37:g.182543231C>T			B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Silent	SNP	pfam_Neurogenic_DUF,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom	p.A119	ENST00000295108.3	37	c.357	CCDS2283.1	2																																																																																			NEUROD1	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom		0.542	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD1	HGNC	protein_coding	OTTHUMT00000255792.2	C	NM_002500		182543231	-1	no_errors	ENST00000295108	ensembl	human	known	70_37	silent	SNP	0.082	T
MTERF4	130916	genome.wustl.edu	37	2	242038897	242038897	+	Missense_Mutation	SNP	A	A	G			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr2:242038897A>G	ENST00000391980.2	-	2	492	c.434T>C	c.(433-435)tTg>tCg	p.L145S	MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000495694.1_Missense_Mutation_p.L145S|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000407095.3_Missense_Mutation_p.L145S	NM_182501.3	NP_872307.2	Q7Z6M4	MTEF4_HUMAN		145					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|mitochondrial large ribosomal subunit (GO:0005762)|mitochondrion (GO:0005739)	rRNA binding (GO:0019843)			endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		ACTTTTCTTCAAGACCACACA	0.463																																																	0													116.0	119.0	118.0					2																	242038897		2203	4300	6503	SO:0001583	missense	130916																														ENST00000391980.2:c.434T>C	2.37:g.242038897A>G	ENSP00000375840:p.Leu145Ser		A8K6K0|Q9P0E0	Missense_Mutation	SNP	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel	p.L145S	ENST00000391980.2	37	c.434	CCDS2544.1	2	.	.	.	.	.	.	.	.	.	.	A	16.92	3.254898	0.59321	.	.	ENSG00000122085	ENST00000495694;ENST00000401626;ENST00000391980;ENST00000424798;ENST00000407095;ENST00000434791	T;T;T;T;T;T	0.64618	-0.11;-0.09;2.42;2.42;2.42;0.06	5.03	3.85	0.44370	.	0.147317	0.29995	N	0.010677	T	0.76392	0.3981	M	0.74881	2.28	0.24617	N	0.993693	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.68454	-0.5404	10	0.87932	D	0	-2.7983	10.9951	0.47571	0.843:0.157:0.0:0.0	.	145;145	B4DKD5;Q7Z6M4	.;MTER2_HUMAN	S	145;145;145;138;145;124	ENSP00000419315:L145S;ENSP00000385183:L145S;ENSP00000375840:L145S;ENSP00000409023:L138S;ENSP00000385630:L145S;ENSP00000393063:L124S	ENSP00000241527:L145S	L	-	2	0	MTERFD2	241687570	1.000000	0.71417	0.028000	0.17463	0.994000	0.84299	6.032000	0.70918	0.745000	0.32763	0.482000	0.46254	TTG	MTERFD2	-	pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel		0.463	MTERFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTERFD2	HGNC	protein_coding	OTTHUMT00000323798.4	A			242038897	-1	no_errors	ENST00000241527	ensembl	human	known	70_37	missense	SNP	0.399	G
NRP1	8829	genome.wustl.edu	37	10	33559709	33559709	+	Silent	SNP	G	G	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr10:33559709G>A	ENST00000265371.4	-	4	849	c.324C>T	c.(322-324)gcC>gcT	p.A108A	NRP1_ENST00000432372.2_Silent_p.A108A|NRP1_ENST00000374867.2_Silent_p.A108A|NRP1_ENST00000374823.5_Silent_p.A108A|NRP1_ENST00000374816.3_Silent_p.A108A|NRP1_ENST00000374822.4_Silent_p.A108A|NRP1_ENST00000374821.5_Silent_p.A108A|NRP1_ENST00000395995.1_Silent_p.A108A|NRP1_ENST00000374875.1_Intron			O14786	NRP1_HUMAN	neuropilin 1	108	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CAGGAGGAGGGGCTATCTTTC	0.388																																					Melanoma(104;886 1489 44640 45944 51153)												0													86.0	89.0	88.0					10																	33559709		2203	4300	6503	SO:0001819	synonymous_variant	8829			AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.324C>T	10.37:g.33559709G>A			B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Silent	SNP	pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,pirsf_Neuropilin,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom,prints_MAM_dom	p.A108	ENST00000265371.4	37	c.324	CCDS7177.1	10																																																																																			NRP1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_Neuropilin,pfscan_CUB		0.388	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NRP1	HGNC	protein_coding	OTTHUMT00000051203.2	G			33559709	-1	no_errors	ENST00000265371	ensembl	human	known	70_37	silent	SNP	0.925	A
OGDHL	55753	genome.wustl.edu	37	10	50966441	50966441	+	Silent	SNP	G	G	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr10:50966441G>T	ENST00000374103.4	-	2	283	c.198C>A	c.(196-198)gtC>gtA	p.V66V	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Silent_p.V66V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	66					glycolytic process (GO:0006096)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TGACCTTGTGGACACTCTGGG	0.657																																																	0													67.0	70.0	69.0					10																	50966441		2203	4300	6503	SO:0001819	synonymous_variant	55753			AK001713	CCDS7234.1, CCDS44390.1, CCDS44391.1	10q11.23	2013-09-20			ENSG00000197444	ENSG00000197444			25590	protein-coding gene	gene with protein product						10574462	Standard	NM_018245		Approved	FLJ10851	uc001jie.3	Q9ULD0	OTTHUMG00000018200	ENST00000374103.4:c.198C>A	10.37:g.50966441G>T			A8K2G1|B4DKG2|B4E193|Q8TAN9|Q9NVA0	Silent	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.V66	ENST00000374103.4	37	c.198	CCDS7234.1	10																																																																																			OGDHL	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.657	OGDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGDHL	HGNC	protein_coding	OTTHUMT00000048007.1	G	NM_018245		50966441	-1	no_errors	ENST00000374103	ensembl	human	known	70_37	silent	SNP	0.896	T
P2RX7	5027	genome.wustl.edu	37	12	121622293	121622293	+	Silent	SNP	G	G	A	rs28969478		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr12:121622293G>A	ENST00000546057.1	+	13	1619	c.1476G>A	c.(1474-1476)agG>agA	p.R492R	P2RX7_ENST00000541446.1_Silent_p.R203R|P2RX7_ENST00000328963.5_Silent_p.R322R|P2RX7_ENST00000535250.1_Silent_p.R402R|P2RX7_ENST00000443520.3_3'UTR	NM_002562.5	NP_002553	Q99572	P2RX7_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7	492					apoptotic signaling pathway (GO:0097190)|bleb assembly (GO:0032060)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|membrane depolarization (GO:0051899)|negative regulation of bone resorption (GO:0045779)|negative regulation of MAPK cascade (GO:0043409)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|pore complex assembly (GO:0046931)|positive regulation of bone mineralization (GO:0030501)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cytolysis (GO:0045919)|positive regulation of cytoskeleton organization (GO:0051495)|positive regulation of interleukin-1 beta secretion (GO:0050718)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of killing of cells of other organism (GO:0051709)|regulation of sodium ion transport (GO:0002028)|response to ATP (GO:0033198)|sensory perception of pain (GO:0019233)	bleb (GO:0032059)|cytoplasm (GO:0005737)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|extracellular ATP-gated cation channel activity (GO:0004931)|lipopolysaccharide binding (GO:0001530)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGAGCCACAGGTGCCTGGAGG	0.602																																																	0													44.0	42.0	43.0					12																	121622293		2203	4300	6503	SO:0001819	synonymous_variant	5027			Y09561	CCDS9213.1	12q24	2012-01-17			ENSG00000089041	ENSG00000089041		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8537	protein-coding gene	gene with protein product		602566				9038151, 9826911	Standard	NM_002562		Approved	P2X7, MGC20089	uc001tzm.3	Q99572	OTTHUMG00000169153	ENST00000546057.1:c.1476G>A	12.37:g.121622293G>A			A8K2Z0|E7EMK6|F5H6P2|F5H7E8|F8W951|O14991|Q4VKH8|Q4VKH9|Q4VKI0|Q4VKI1|Q4VKI2|Q4VKI3|Q4VKI4|Q7Z771|Q96EV7	Silent	SNP	pfam_P2X_purnocptor,prints_P2X7_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor	p.R492	ENST00000546057.1	37	c.1476	CCDS9213.1	12																																																																																			P2RX7	-	NULL		0.602	P2RX7-008	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX7	HGNC	protein_coding	OTTHUMT00000402532.1	G	NM_002562		121622293	+1	no_errors	ENST00000546057	ensembl	human	known	70_37	silent	SNP	0.000	A
P2RY4	5030	genome.wustl.edu	37	X	69478492	69478492	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chrX:69478492G>A	ENST00000374519.2	-	1	1162	c.983C>T	c.(982-984)cCc>cTc	p.P328L		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	328					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						AGCCGTGCGGGGCTGGGGCTT	0.632																																																	0													34.0	32.0	33.0					X																	69478492		2203	4300	6503	SO:0001583	missense	5030			X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.983C>T	X.37:g.69478492G>A	ENSP00000363643:p.Pro328Leu		Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_purnocptor,prints_P2_purnocptor,prints_GPCR_Rhodpsn,prints_P2U_purnocptor	p.P328L	ENST00000374519.2	37	c.983	CCDS14398.1	X	.	.	.	.	.	.	.	.	.	.	G	7.752	0.703597	0.15172	.	.	ENSG00000186912	ENST00000374519	T	0.24723	1.84	4.7	2.85	0.33270	.	0.883384	0.09295	U	0.821712	T	0.11537	0.0281	N	0.08118	0	0.09310	N	1	B	0.31435	0.323	B	0.23716	0.048	T	0.24012	-1.0172	10	0.26408	T	0.33	.	6.8361	0.23937	0.1014:0.3592:0.5394:0.0	.	328	P51582	P2RY4_HUMAN	L	328	ENSP00000363643:P328L	ENSP00000363643:P328L	P	-	2	0	P2RY4	69395217	0.000000	0.05858	0.015000	0.15790	0.003000	0.03518	-0.121000	0.10643	0.961000	0.38030	0.589000	0.80489	CCC	P2RY4	-	prints_P2Y4_purnocptor		0.632	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY4	HGNC	protein_coding	OTTHUMT00000057058.2	G	NM_002565		69478492	-1	no_errors	ENST00000374519	ensembl	human	known	70_37	missense	SNP	0.001	A
PCDHB13	56123	genome.wustl.edu	37	5	140595593	140595593	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr5:140595593G>A	ENST00000341948.4	+	1	2085	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	633	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAGCGAGCGCGACGCGGCC	0.697																																																	0													19.0	21.0	21.0					5																	140595593		1700	3532	5232	SO:0001583	missense	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.1898G>A	5.37:g.140595593G>A	ENSP00000345491:p.Arg633His		A8K9V6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R633H	ENST00000341948.4	37	c.1898	CCDS4255.1	5	.	.	.	.	.	.	.	.	.	.	-	17.55	3.416613	0.62511	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.51325	0.71	3.6	3.6	0.41247	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.58192	0.2105	M	0.69358	2.11	0.30345	N	0.785348	D	0.71674	0.998	P	0.57057	0.812	T	0.59658	-0.7413	9	0.87932	D	0	.	8.945	0.35753	0.1079:0.0:0.8921:0.0	.	633	Q9Y5F0	PCDBD_HUMAN	H	633;633;579	ENSP00000345491:R633H	ENSP00000345491:R633H	R	+	2	0	PCDHB13	140575777	0.000000	0.05858	1.000000	0.80357	0.768000	0.43524	0.051000	0.14141	1.576000	0.49790	0.298000	0.19748	CGC	PCDHB13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.697	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB13	HGNC	protein_coding	OTTHUMT00000251810.1	G	NM_018933		140595593	+1	no_errors	ENST00000341948	ensembl	human	known	70_37	missense	SNP	0.945	A
PCED1B	91523	genome.wustl.edu	37	12	47629036	47629036	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr12:47629036G>C	ENST00000546455.1	+	4	921	c.190G>C	c.(190-192)Gga>Cga	p.G64R	PCED1B_ENST00000432328.1_Missense_Mutation_p.G64R|RP11-493L12.3_ENST00000547748.1_RNA			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B	64							hydrolase activity (GO:0016787)										GCTGGTGGACGGAGGCCAGCG	0.607																																																	0													93.0	82.0	86.0					12																	47629036		2203	4300	6503	SO:0001583	missense	91523			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617	ENST00000546455.1:c.190G>C	12.37:g.47629036G>C	ENSP00000446688:p.Gly64Arg		Q96B20	Missense_Mutation	SNP	superfamily_Esterase_SGNH_hydro-type	p.G64R	ENST00000546455.1	37	c.190	CCDS8752.1	12	.	.	.	.	.	.	.	.	.	.	G	16.24	3.066572	0.55539	.	.	ENSG00000179715	ENST00000546455;ENST00000432328;ENST00000549500;ENST00000549630	T;T;T;T	0.47177	1.34;1.34;0.85;0.86	3.79	3.79	0.43588	Esterase, SGNH hydrolase-type (1);	0.000000	0.64402	D	0.000009	T	0.65407	0.2688	M	0.67953	2.075	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	T	0.69684	-0.5079	10	0.87932	D	0	-21.7226	13.9718	0.64245	0.0:0.0:1.0:0.0	.	64	Q96HM7	F113B_HUMAN	R	64	ENSP00000446688:G64R;ENSP00000396040:G64R;ENSP00000449680:G64R;ENSP00000448000:G64R	ENSP00000396040:G64R	G	+	1	0	FAM113B	45915303	1.000000	0.71417	0.652000	0.29579	0.024000	0.10985	8.006000	0.88564	2.417000	0.82017	0.655000	0.94253	GGA	PCED1B	-	superfamily_Esterase_SGNH_hydro-type		0.607	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1B	HGNC	protein_coding	OTTHUMT00000405079.1	G	NM_138371		47629036	+1	no_errors	ENST00000432328	ensembl	human	known	70_37	missense	SNP	0.989	C
PDZD4	57595	genome.wustl.edu	37	X	153069983	153069983	+	Silent	SNP	G	G	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chrX:153069983G>T	ENST00000164640.4	-	8	1326	c.1135C>A	c.(1135-1137)Cgg>Agg	p.R379R	PDZD4_ENST00000393758.2_Silent_p.R304R|PDZD4_ENST00000475140.1_5'Flank|PDZD4_ENST00000544474.1_Silent_p.R270R	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	379						cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGAGGCCCGGGGAAAGAGG	0.637																																																	0													44.0	40.0	42.0					X																	153069983		2203	4299	6502	SO:0001819	synonymous_variant	57595			AK091444	CCDS14732.1	Xq28	2008-02-05		2006-01-24	ENSG00000067840	ENSG00000067840			21167	protein-coding gene	gene with protein product		300634		PDZK4		10819331, 15077175	Standard	NM_032512		Approved	KIAA1444, LU1, FLJ34125, PDZRN4L	uc004fiz.1	Q76G19	OTTHUMG00000024209	ENST00000164640.4:c.1135C>A	X.37:g.153069983G>T			B3KXB1|B7ZKY3|Q8NB75|Q9BUH9|Q9P284	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R379	ENST00000164640.4	37	c.1135	CCDS14732.1	X																																																																																			PDZD4	-	NULL		0.637	PDZD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD4	HGNC	protein_coding	OTTHUMT00000061013.3	G	NM_032512		153069983	-1	no_errors	ENST00000164640	ensembl	human	known	70_37	silent	SNP	0.021	T
PIGR	5284	genome.wustl.edu	37	1	207112633	207112633	+	Silent	SNP	G	G	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr1:207112633G>A	ENST00000356495.4	-	3	402	c.219C>T	c.(217-219)taC>taT	p.Y73Y		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	73	Ig-like V-type 1.				detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc receptor signaling pathway (GO:0038093)|immunoglobulin transcytosis in epithelial cells mediated by polymeric immunoglobulin receptor (GO:0002415)|receptor clustering (GO:0043113)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	polymeric immunoglobulin receptor activity (GO:0001792)			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGCTGGAGACGTAGCCCTCCG	0.597																																																	0													113.0	90.0	98.0					1																	207112633		2203	4300	6503	SO:0001819	synonymous_variant	5284				CCDS1474.1	1q31-q41	2013-01-11			ENSG00000162896	ENSG00000162896		"""Immunoglobulin superfamily / V-set domain containing"""	8968	protein-coding gene	gene with protein product		173880					Standard	NM_002644		Approved		uc001hez.3	P01833	OTTHUMG00000036581	ENST00000356495.4:c.219C>T	1.37:g.207112633G>A			Q68D81|Q8IZY7	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.Y73	ENST00000356495.4	37	c.219	CCDS1474.1	1																																																																																			PIGR	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like		0.597	PIGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGR	HGNC	protein_coding	OTTHUMT00000088975.1	G	NM_002644		207112633	-1	no_errors	ENST00000356495	ensembl	human	known	70_37	silent	SNP	0.001	A
PIK3AP1	118788	genome.wustl.edu	37	10	98408502	98408502	+	Missense_Mutation	SNP	C	C	T	rs564621240		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr10:98408502C>T	ENST00000339364.5	-	7	1218	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.V189M|PIK3AP1_ENST00000468783.1_5'UTR	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	367					negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TTGTTGGCCACGCTGTACGCC	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21821	0.0		0.0	False		,,,				2504	0.0																0													113.0	88.0	96.0					10																	98408502		2203	4300	6503	SO:0001583	missense	118788			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.1099G>A	10.37:g.98408502C>T	ENSP00000339826:p.Val367Met		Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.V367M	ENST00000339364.5	37	c.1099	CCDS31259.1	10	.	.	.	.	.	.	.	.	.	.	C	24.3	4.517929	0.85495	.	.	ENSG00000155629	ENST00000339364;ENST00000371110	T;T	0.53640	0.61;1.9	5.79	5.79	0.91817	Ankyrin repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58864	0.2152	L	0.35414	1.06	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49051	-0.8979	10	0.21014	T	0.42	-22.8315	19.0248	0.92929	0.0:1.0:0.0:0.0	.	367	Q6ZUJ8	BCAP_HUMAN	M	367;189	ENSP00000339826:V367M;ENSP00000360151:V189M	ENSP00000339826:V367M	V	-	1	0	PIK3AP1	98398492	1.000000	0.71417	0.997000	0.53966	0.900000	0.52787	7.752000	0.85141	2.736000	0.93811	0.561000	0.74099	GTG	PIK3AP1	-	superfamily_Ankyrin_rpt-contain_dom		0.567	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	HGNC	protein_coding	OTTHUMT00000049619.2	C	NM_152309		98408502	-1	no_errors	ENST00000339364	ensembl	human	known	70_37	missense	SNP	1.000	T
PKN2	5586	genome.wustl.edu	37	1	89287654	89287654	+	Missense_Mutation	SNP	G	G	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr1:89287654G>T	ENST00000370521.3	+	17	2669	c.2310G>T	c.(2308-2310)ttG>ttT	p.L770F	PKN2_ENST00000370505.3_Missense_Mutation_p.L613F|PKN2_ENST00000544045.1_Missense_Mutation_p.L444F|PKN2_ENST00000370513.5_Missense_Mutation_p.L722F	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	770	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apical junction assembly (GO:0043297)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|epithelial cell migration (GO:0010631)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	apical junction complex (GO:0043296)|centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium (GO:0030027)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTCTTGGGTTGCAGTATTTAC	0.269																																																	0													85.0	76.0	79.0					1																	89287654		1783	4055	5838	SO:0001583	missense	5586			U33052	CCDS714.1	1p22	2014-04-23	2004-07-01	2004-07-01	ENSG00000065243	ENSG00000065243			9406	protein-coding gene	gene with protein product	"""cardiolipin-activated protein kinase Pak2"""	602549	"""protein kinase C-like 2"""	PRKCL2		7988719, 7851406	Standard	NM_006256		Approved	PRK2, Pak-2, STK7	uc001dmn.3	Q16513	OTTHUMG00000010074	ENST00000370521.3:c.2310G>T	1.37:g.89287654G>T	ENSP00000359552:p.Leu770Phe		B4DQ21|B4DTP5|B4DVG1|D3DT24|Q08AF4|Q9H1W4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.L770F	ENST00000370521.3	37	c.2310	CCDS714.1	1	.	.	.	.	.	.	.	.	.	.	G	11.99	1.802763	0.31869	.	.	ENSG00000065243	ENST00000370521;ENST00000370505;ENST00000370513;ENST00000544045;ENST00000544215	T;T;T;T	0.49720	0.77;0.77;0.77;0.77	5.83	3.96	0.45880	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33382	U	0.004970	T	0.54598	0.1868	M	0.89968	3.075	0.52099	D	0.999949	D;P;B	0.53885	0.963;0.924;0.432	P;B;B	0.54372	0.75;0.431;0.201	T	0.64466	-0.6401	10	0.87932	D	0	.	7.7665	0.28982	0.1442:0.0:0.7137:0.1421	.	754;722;770	B4DTP5;E7ESL7;Q16513	.;.;PKN2_HUMAN	F	770;613;722;444;24	ENSP00000359552:L770F;ENSP00000359536:L613F;ENSP00000359544:L722F;ENSP00000439643:L444F	ENSP00000359536:L613F	L	+	3	2	PKN2	89060242	1.000000	0.71417	1.000000	0.80357	0.693000	0.40251	0.608000	0.24223	1.481000	0.48307	0.591000	0.81541	TTG	PKN2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.269	PKN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN2	HGNC	protein_coding	OTTHUMT00000027828.3	G	NM_006256		89287654	+1	no_errors	ENST00000370521	ensembl	human	known	70_37	missense	SNP	1.000	T
RAPGEF1	2889	genome.wustl.edu	37	9	134501771	134501771	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr9:134501771G>A	ENST00000372189.3	-	10	1312	c.1189C>T	c.(1189-1191)Ctc>Ttc	p.L397F	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.L415F|RAPGEF1_ENST00000372195.1_Missense_Mutation_p.L414F|RAPGEF1_ENST00000481260.1_5'UTR	NM_005312.2	NP_005303.2	Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	397					activation of MAPKK activity (GO:0000186)|blood vessel development (GO:0001568)|cellular response to cAMP (GO:0071320)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of Ras protein signal transduction (GO:0046580)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of neuron projection development (GO:0010976)|positive regulation of Rap GTPase activity (GO:0032854)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)	Rap guanyl-nucleotide exchange factor activity (GO:0017034)			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GCGTTAGAGAGGTCTTGCTGG	0.552																																																	0													88.0	91.0	90.0					9																	134501771		1951	4151	6102	SO:0001583	missense	2889			BC041710	CCDS48047.1	9q34.3	2008-02-05	2004-03-01	2004-03-02	ENSG00000107263	ENSG00000107263			4568	protein-coding gene	gene with protein product		600303	"""guanine nucleotide-releasing factor 2 (specific for crk proto-oncogene)"""	GRF2		7959692, 7512734	Standard	NM_005312		Approved	C3G	uc022bos.1	Q13905	OTTHUMG00000020829	ENST00000372189.3:c.1189C>T	9.37:g.134501771G>A	ENSP00000361263:p.Leu397Phe		Q5JUE4|Q8IV73	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L415F	ENST00000372189.3	37	c.1243	CCDS48047.1	9	.	.	.	.	.	.	.	.	.	.	G	21.9	4.218566	0.79464	.	.	ENSG00000107263	ENST00000266110;ENST00000372195;ENST00000429421;ENST00000372189;ENST00000372190;ENST00000411834;ENST00000337036;ENST00000372191;ENST00000357686	T;T;T	0.50001	0.76;0.76;0.76	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	T	0.66963	0.2843	M	0.64997	1.995	0.45342	D	0.998338	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.76575	0.972;0.972;0.988	T	0.68731	-0.5331	10	0.59425	D	0.04	.	17.8556	0.88761	0.0:0.0:1.0:0.0	.	414;397;415	Q68DL3;Q13905;Q13905-3	.;RPGF1_HUMAN;.	F	397;414;291;397;415;377;323;92;414	ENSP00000361269:L414F;ENSP00000361263:L397F;ENSP00000361264:L415F	ENSP00000266110:L397F	L	-	1	0	RAPGEF1	133491592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.944000	0.56629	2.532000	0.85374	0.650000	0.86243	CTC	RAPGEF1	-	NULL		0.552	RAPGEF1-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	RAPGEF1	HGNC	protein_coding	OTTHUMT00000054759.2	G	NM_005312		134501771	-1	no_errors	ENST00000372190	ensembl	human	known	70_37	missense	SNP	1.000	A
QSOX2	169714	genome.wustl.edu	37	9	139108447	139108447	+	Splice_Site	SNP	C	C	T	rs368735255		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr9:139108447C>T	ENST00000358701.5	-	9	1245	c.1208G>A	c.(1207-1209)cGg>cAg	p.R403Q		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	403					cell redox homeostasis (GO:0045454)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	thiol oxidase activity (GO:0016972)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		GGGGCTCACCCGCATCTTGTT	0.637																																																	0								C	GLN/ARG	0,4406		0,0,2203	143.0	92.0	109.0		1208	3.5	1.0	9		109	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice	QSOX2	NM_181701.3	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	403/699	139108447	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	169714			AJ318051	CCDS35178.1	9q34.3	2008-02-05	2007-04-23	2007-04-23	ENSG00000165661	ENSG00000165661			30249	protein-coding gene	gene with protein product		612860	"""quiescin Q6-like 1"""	QSCN6L1		12176051	Standard	NM_181701		Approved	SOXN, DKFZp762A2013	uc010nbi.2	Q6ZRP7	OTTHUMG00000020923	ENST00000358701.5:c.1209+1G>A	9.37:g.139108447C>T			A2CEE0|A6NLB0|Q5TB37|Q7Z7B6|Q86VV7|Q8N3G2	Missense_Mutation	SNP	pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold	p.R403Q	ENST00000358701.5	37	c.1208	CCDS35178.1	9	.	.	.	.	.	.	.	.	.	.	C	16.97	3.268822	0.59540	0.0	1.16E-4	ENSG00000165661	ENST00000358701;ENST00000389471	T	0.16597	2.33	4.46	3.54	0.40534	.	0.107041	0.32852	N	0.005575	T	0.09247	0.0228	N	0.25201	0.72	0.48135	D	0.999591	P	0.34815	0.47	B	0.20577	0.03	T	0.25257	-1.0137	10	0.30854	T	0.27	-22.0453	10.5259	0.44948	0.0:0.9026:0.0:0.0974	.	403	Q6ZRP7	QSOX2_HUMAN	Q	403;202	ENSP00000351536:R403Q	ENSP00000351536:R403Q	R	-	2	0	QSOX2	138248268	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.139000	0.58024	0.831000	0.34780	0.514000	0.50259	CGG	QSOX2	-	NULL		0.637	QSOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSOX2	HGNC	protein_coding	OTTHUMT00000055046.2	C	NM_181701	Missense_Mutation	139108447	-1	no_errors	ENST00000358701	ensembl	human	known	70_37	missense	SNP	1.000	T
RILPL1	353116	genome.wustl.edu	37	12	123957223	123957223	+	Missense_Mutation	SNP	G	G	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr12:123957223G>T	ENST00000376874.4	-	7	1309	c.1074C>A	c.(1072-1074)agC>agA	p.S358R	RILPL1_ENST00000340724.6_Missense_Mutation_p.S238R|RILPL1_ENST00000544468.1_Missense_Mutation_p.S31R|SNRNP35_ENST00000527158.2_3'UTR	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	358					epithelial cell morphogenesis (GO:0003382)|intracellular protein transport (GO:0006886)|regulation of neuron death (GO:1901214)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)		p.S358R(3)		endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		GGGAGAAGAAGCTAAACCTTT	0.498																																																	3	Substitution - Missense(3)	kidney(2)|endometrium(1)											65.0	63.0	63.0					12																	123957223		1944	4154	6098	SO:0001583	missense	353116			AK097550	CCDS45006.1	12q24.31	2007-11-27			ENSG00000188026	ENSG00000188026			26814	protein-coding gene	gene with protein product		614092				14668488	Standard	NM_178314		Approved	FLJ39378	uc001ufe.2	Q5EBL4	OTTHUMG00000168686	ENST00000376874.4:c.1074C>A	12.37:g.123957223G>T	ENSP00000366070:p.Ser358Arg		Q66K36|Q8N1M0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,pfam_RILP	p.S358R	ENST00000376874.4	37	c.1074	CCDS45006.1	12	.	.	.	.	.	.	.	.	.	.	G	20.7	4.028945	0.75504	.	.	ENSG00000188026	ENST00000376874;ENST00000340724;ENST00000544468	T;T;T	0.27720	1.65;1.65;1.65	5.47	4.47	0.54385	.	.	.	.	.	T	0.37892	0.1020	L	0.29908	0.895	0.51767	D	0.999936	D;D	0.89917	1.0;0.997	D;D	0.85130	0.997;0.991	T	0.11717	-1.0576	9	0.49607	T	0.09	-0.9352	6.5327	0.22336	0.2105:0.0:0.7895:0.0	.	358;207	Q5EBL4;Q5EBL4-3	RIPL1_HUMAN;.	R	358;238;31	ENSP00000366070:S358R;ENSP00000345874:S238R;ENSP00000442991:S31R	ENSP00000345874:S238R	S	-	3	2	RILPL1	122523176	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.403000	0.44530	2.566000	0.86566	0.655000	0.94253	AGC	RILPL1	-	NULL		0.498	RILPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RILPL1	HGNC	protein_coding	OTTHUMT00000400595.1	G	NM_178314		123957223	-1	no_errors	ENST00000376874	ensembl	human	known	70_37	missense	SNP	1.000	T
RYR3	6263	genome.wustl.edu	37	15	34112005	34112005	+	Silent	SNP	C	C	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr15:34112005C>T	ENST00000389232.4	+	77	10825	c.10755C>T	c.(10753-10755)gcC>gcT	p.A3585A	RYR3_ENST00000415757.3_Silent_p.A3580A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3585					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCATGATGGCCAAGGTACACC	0.408																																																	0													333.0	316.0	321.0					15																	34112005		1862	4102	5964	SO:0001819	synonymous_variant	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10755C>T	15.37:g.34112005C>T			O15175|Q15412	Silent	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.A3585	ENST00000389232.4	37	c.10755	CCDS45210.1	15																																																																																			RYR3	-	superfamily_ARM-type_fold		0.408	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	C			34112005	+1	no_errors	ENST00000389232	ensembl	human	known	70_37	silent	SNP	1.000	T
SERBP1	26135	genome.wustl.edu	37	1	67885742	67885742	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr1:67885742C>T	ENST00000370995.2	-	6	1031	c.946G>A	c.(946-948)Gat>Aat	p.D316N	SERBP1_ENST00000370994.4_Missense_Mutation_p.D295N|SERBP1_ENST00000361219.6_Missense_Mutation_p.D301N|SERBP1_ENST00000370990.5_Missense_Mutation_p.D310N|SERBP1_ENST00000484880.1_5'UTR|RNU6-387P_ENST00000411331.1_RNA			Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	316					regulation of apoptotic process (GO:0042981)|regulation of mRNA stability (GO:0043488)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CACTGCCCATCAGCACCTTCA	0.378																																																	0													84.0	87.0	86.0					1																	67885742		2203	4297	6500	SO:0001583	missense	26135			AF151813	CCDS639.1, CCDS30746.1, CCDS30747.1, CCDS30748.1	1p31	2009-12-17			ENSG00000142864	ENSG00000142864			17860	protein-coding gene	gene with protein product		607378				11001948, 10810093, 18440126, 17698176	Standard	NM_001018067		Approved	PAI-RBP1, DKFZP564M2423, CGI-55, HABP4L, PAIRBP1, CHD3IP	uc001ddv.3	Q8NC51	OTTHUMG00000009372	ENST00000370995.2:c.946G>A	1.37:g.67885742C>T	ENSP00000360034:p.Asp316Asn		Q5VU19|Q5VU20|Q5VU22|Q8WUH0|Q96SE2|Q9BTY3|Q9BUM4|Q9Y367|Q9Y4S3	Missense_Mutation	SNP	pfam_HABP4_PAIRBP1-bd	p.D316N	ENST00000370995.2	37	c.946	CCDS30746.1	1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281613	0.59758	.	.	ENSG00000142864	ENST00000370994;ENST00000370995;ENST00000361219;ENST00000370990	.	.	.	5.45	5.45	0.79879	.	0.043041	0.85682	D	0.000000	T	0.71685	0.3369	M	0.63428	1.95	0.80722	D	1	B;D;P;B	0.76494	0.141;0.999;0.68;0.403	B;D;B;B	0.81914	0.028;0.995;0.136;0.145	T	0.66548	-0.5896	9	0.28530	T	0.3	-2.1987	19.2787	0.94042	0.0:1.0:0.0:0.0	.	358;373;301;316	D3DQ69;D3DQ70;Q8NC51-3;Q8NC51	.;.;.;PAIRB_HUMAN	N	295;316;301;310	.	ENSP00000354591:D301N	D	-	1	0	SERBP1	67658330	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.776000	0.85560	2.552000	0.86080	0.460000	0.39030	GAT	SERBP1	-	NULL		0.378	SERBP1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERBP1	HGNC	protein_coding	OTTHUMT00000025984.2	C	NM_001018067		67885742	-1	no_errors	ENST00000370995	ensembl	human	known	70_37	missense	SNP	1.000	T
SFSWAP	6433	genome.wustl.edu	37	12	132239001	132239001	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr12:132239001G>A	ENST00000261674.4	+	9	1552	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	SFSWAP_ENST00000541286.1_Missense_Mutation_p.G471S|RP11-495K9.5_ENST00000537032.1_lincRNA	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	471					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CGCCAGGAACGGCCTGAAGTT	0.547																																																	0													58.0	59.0	59.0					12																	132239001		2203	4300	6503	SO:0001583	missense	6433			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.1411G>A	12.37:g.132239001G>A	ENSP00000261674:p.Gly471Ser		B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	p.G471S	ENST00000261674.4	37	c.1411	CCDS9273.1	12	.	.	.	.	.	.	.	.	.	.	G	36	5.809175	0.96975	.	.	ENSG00000061936	ENST00000261674;ENST00000544623;ENST00000535236;ENST00000541286	T;T;T	0.79749	-1.3;-1.3;-1.3	5.65	5.65	0.86999	SWAP/Surp (3);	0.000000	0.85682	D	0.000000	D	0.93064	0.7792	H	0.94222	3.51	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	0.94419	0.7639	10	0.87932	D	0	-38.851	19.7254	0.96162	0.0:0.0:1.0:0.0	.	471;471;408	F5H6B8;Q12872;F5H525	.;SFSWA_HUMAN;.	S	471;408;264;471	ENSP00000261674:G471S;ENSP00000443045:G264S;ENSP00000437738:G471S	ENSP00000261674:G471S	G	+	1	0	SFSWAP	130804954	1.000000	0.71417	0.916000	0.36221	0.970000	0.65996	9.866000	0.99616	2.656000	0.90262	0.563000	0.77884	GGC	SFSWAP	-	pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp		0.547	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFSWAP	HGNC	protein_coding	OTTHUMT00000399276.1	G	NM_004592		132239001	+1	no_errors	ENST00000261674	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC28A2	9153	genome.wustl.edu	37	15	45559935	45559935	+	Silent	SNP	G	G	A	rs17215626		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr15:45559935G>A	ENST00000347644.3	+	12	1205	c.1140G>A	c.(1138-1140)gcG>gcA	p.A380A	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	380					nucleobase-containing compound metabolic process (GO:0006139)|purine nucleoside transmembrane transport (GO:0015860)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|nucleoside:sodium symporter activity (GO:0005415)|purine nucleoside transmembrane transporter activity (GO:0015211)			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)	Mercaptopurine(DB01033)	CAAAGCTAGCGTATCCGGAAG	0.557																																					NSCLC(92;493 1501 26361 28917 47116)												0								G		1,4395	2.1+/-5.4	0,1,2197	140.0	142.0	141.0		1140	-9.7	0.7	15	dbSNP_126	141	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	SLC28A2	NM_004212.3		0,2,6494	AA,AG,GG		0.0116,0.0227,0.0154		380/659	45559935	2,12990	2198	4298	6496	SO:0001819	synonymous_variant	9153			U84392	CCDS10121.1	15q15	2013-07-17	2013-07-17		ENSG00000137860	ENSG00000137860		"""Solute carriers"""	11002	protein-coding gene	gene with protein product		606208	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 2"""			9435697	Standard	NM_004212		Approved	CNT2, SPNT1, HCNT2, HsT17153	uc001zva.2	O43868	OTTHUMG00000131426	ENST00000347644.3:c.1140G>A	15.37:g.45559935G>A			A8K7F9|O43239|Q52LZ0	Silent	SNP	pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac	p.A380	ENST00000347644.3	37	c.1140	CCDS10121.1	15																																																																																			SLC28A2	-	pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac		0.557	SLC28A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC28A2	HGNC	protein_coding	OTTHUMT00000254219.2	G	NM_004212		45559935	+1	no_errors	ENST00000347644	ensembl	human	known	70_37	silent	SNP	0.328	A
SLFN5	162394	genome.wustl.edu	37	17	33592730	33592730	+	Silent	SNP	G	G	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr17:33592730G>A	ENST00000299977.4	+	5	2647	c.2499G>A	c.(2497-2499)tcG>tcA	p.S833S	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	833					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTGATGCGTCGGATGTTCTAA	0.453																																																	0													93.0	83.0	86.0					17																	33592730		2203	4300	6503	SO:0001819	synonymous_variant	162394			BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2499G>A	17.37:g.33592730G>A			Q08AF2|Q8WU54|Q96A82	Silent	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.S833	ENST00000299977.4	37	c.2499	CCDS32619.1	17																																																																																			SLFN5	-	NULL		0.453	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	HGNC	protein_coding	OTTHUMT00000448649.2	G	NM_144975		33592730	+1	no_errors	ENST00000299977	ensembl	human	known	70_37	silent	SNP	0.003	A
RPS2	6187	genome.wustl.edu	37	16	2012342	2012342	+	Intron	SNP	G	G	A	rs375699083		TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr16:2012342G>A	ENST00000343262.4	-	7	766				RPS2_ENST00000529806.1_Intron|RPS2_ENST00000530225.1_Intron|SNORA10_ENST00000384084.1_RNA|SNHG9_ENST00000459373.1_lincRNA|SNORA64_ENST00000384674.1_RNA|RPS2_ENST00000526522.1_Intron	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2						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)|positive regulation of transferase activity (GO:0051347)|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 small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						AAAAATTGTCGCACTCCTAGG	0.542													G|||	1	0.000199681	0.0	0.0	5008	,	,		18570	0.0		0.0	False		,,,				2504	0.001																0								G		0,1752		0,0,876	78.0	76.0	77.0			-1.1	0.0	16		77	1,3981		0,1,1990	no	intron	RPS2	NM_002952.3		0,1,2866	AA,AG,GG		0.0251,0.0,0.0174			2012342	1,5733	876	1991	2867	SO:0001627	intron_variant	574042			AB007147	CCDS10452.1	16p13.3	2011-04-05			ENSG00000140988	ENSG00000140988		"""S ribosomal proteins"""	10404	protein-coding gene	gene with protein product		603624				9582194	Standard	NM_002952		Approved	LLREP3, S2	uc002cno.2	P15880	OTTHUMG00000128708	ENST00000343262.4:c.710-71C>T	16.37:g.2012342G>A			B2R5G0|D3DU82|Q3MIB1	RNA	SNP	-	NULL	ENST00000343262.4	37	NULL	CCDS10452.1	16																																																																																			SNORA10	-	-		0.542	RPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA10	HGNC	protein_coding	OTTHUMT00000250613.2	G	NM_002952		2012342	-1	no_errors	ENST00000384084	ensembl	human	known	70_37	rna	SNP	0.000	A
SNX18	112574	genome.wustl.edu	37	5	53815615	53815615	+	Missense_Mutation	SNP	G	G	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr5:53815615G>T	ENST00000326277.3	+	1	2023	c.1833G>T	c.(1831-1833)gaG>gaT	p.E611D	SNX18_ENST00000381410.4_Intron|SNX18_ENST00000343017.6_Intron	NM_052870.2	NP_443102.2	Q96RF0	SNX18_HUMAN	sorting nexin 18	611	BAR.				cleavage furrow formation (GO:0036089)|endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|positive regulation of GTPase activity (GO:0043547)	cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				TAGGGAATGAGTACTCTTTCT	0.443																																																	0													65.0	65.0	65.0					5																	53815615		2203	4300	6503	SO:0001583	missense	112574			AF395536	CCDS3962.1, CCDS43317.1, CCDS54851.1	5q11.2	2010-05-12	2008-03-11	2008-03-11	ENSG00000178996	ENSG00000178996		"""Sorting nexins"""	19245	protein-coding gene	gene with protein product			"""sorting nexin associated golgi protein 1"""	SNAG1		16782399, 17761170	Standard	NM_052870		Approved	SH3PX2, SH3PXD3B	uc003jpi.4	Q96RF0	OTTHUMG00000096994	ENST00000326277.3:c.1833G>T	5.37:g.53815615G>T	ENSP00000317332:p.Glu611Asp		B4E2B3|H7BXX3|Q05BB3|Q0VG02	Missense_Mutation	SNP	pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain	p.E611D	ENST00000326277.3	37	c.1833	CCDS3962.1	5	.	.	.	.	.	.	.	.	.	.	G	4.284	0.051921	0.08291	.	.	ENSG00000178996	ENST00000326277	T	0.12147	2.71	3.54	0.726	0.18248	.	.	.	.	.	T	0.05547	0.0146	N	0.08118	0	0.09310	N	1	B	0.16166	0.016	B	0.18263	0.021	T	0.43814	-0.9368	8	.	.	.	0.0625	3.691	0.08346	0.2274:0.2118:0.5608:0.0	.	611	Q96RF0	SNX18_HUMAN	D	611	ENSP00000317332:E611D	.	E	+	3	2	SNX18	53851372	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	-0.148000	0.10219	0.127000	0.18452	0.462000	0.41574	GAG	SNX18	-	pirsf_Snx9		0.443	SNX18-001	KNOWN	basic|CCDS	protein_coding	SNX18	HGNC	protein_coding	OTTHUMT00000214072.2	G			53815615	+1	no_errors	ENST00000326277	ensembl	human	known	70_37	missense	SNP	0.002	T
TMEM143	55260	genome.wustl.edu	37	19	48836562	48836562	+	Missense_Mutation	SNP	G	G	A			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr19:48836562G>A	ENST00000293261.3	-	8	1610	c.1294C>T	c.(1294-1296)Cca>Tca	p.P432S	TMEM143_ENST00000436660.2_Missense_Mutation_p.P367S|TMEM143_ENST00000377431.2_Missense_Mutation_p.P332S|TMEM143_ENST00000541566.1_Missense_Mutation_p.P322S|TMEM143_ENST00000435956.3_Missense_Mutation_p.P397S	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	432					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CCCGGGGGTGGGTACAATCCC	0.617																																																	0													48.0	51.0	50.0					19																	48836562		2203	4300	6503	SO:0001583	missense	55260			AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.1294C>T	19.37:g.48836562G>A	ENSP00000293261:p.Pro432Ser		A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	pfam_DUF3754	p.P432S	ENST00000293261.3	37	c.1294	CCDS12716.1	19	.	.	.	.	.	.	.	.	.	.	G	24.7	4.561260	0.86335	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	T;T;T	0.63417	-0.04;0.16;0.0	4.27	4.27	0.50696	.	0.000000	0.38058	N	0.001824	T	0.68650	0.3024	L	0.29908	0.895	0.39410	D	0.966749	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.992;0.998;0.996;0.996	T	0.72839	-0.4171	10	0.59425	D	0.04	-19.9274	14.576	0.68246	0.0:0.0:1.0:0.0	.	367;332;397;432	B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;TM143_HUMAN	S	432;332;397;367;322	ENSP00000293261:P432S;ENSP00000397038:P397S;ENSP00000444275:P322S	ENSP00000293261:P432S	P	-	1	0	TMEM143	53528374	1.000000	0.71417	0.979000	0.43373	0.965000	0.64279	4.785000	0.62418	2.393000	0.81446	0.462000	0.41574	CCA	TMEM143	-	NULL		0.617	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM143	HGNC	protein_coding	OTTHUMT00000465622.1	G	NM_018273		48836562	-1	no_errors	ENST00000293261	ensembl	human	known	70_37	missense	SNP	0.960	A
TTLL6	284076	genome.wustl.edu	37	17	46846573	46846573	+	Missense_Mutation	SNP	G	G	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr17:46846573G>T	ENST00000393382.3	-	15	2595	c.2454C>A	c.(2452-2454)agC>agA	p.S818R	TTLL6_ENST00000433608.2_Missense_Mutation_p.S511R	NM_001130918.1	NP_001124390.1			tubulin tyrosine ligase-like family, member 6											endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						TCTCGCCAGAGCTGTCACTGC	0.547																																																	0													45.0	47.0	46.0					17																	46846573		2203	4300	6503	SO:0001583	missense	284076			AK093127	CCDS11537.2, CCDS45724.1	17q21.32	2013-02-14			ENSG00000170703	ENSG00000170703		"""Tubulin tyrosine ligase-like family"""	26664	protein-coding gene	gene with protein product		610849				15890843	Standard	NM_173623		Approved	FLJ35808	uc021tzm.1	Q8N841	OTTHUMG00000156978	ENST00000393382.3:c.2454C>A	17.37:g.46846573G>T	ENSP00000377043:p.Ser818Arg			Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.S818R	ENST00000393382.3	37	c.2454	CCDS45724.1	17	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588845	0.66105	.	.	ENSG00000170703	ENST00000440941;ENST00000305326;ENST00000433608;ENST00000393382	T	0.17854	2.25	5.58	2.49	0.30216	.	.	.	.	.	T	0.32912	0.0845	L	0.56769	1.78	0.26759	N	0.970037	D;D	0.76494	0.999;0.998	D;D	0.69479	0.96;0.964	T	0.05370	-1.0889	9	0.72032	D	0.01	.	8.0272	0.30444	0.2685:0.0:0.7315:0.0	.	770;511	Q8N841;G5E937	TTLL6_HUMAN;.	R	818;511;496;770	ENSP00000399211:S496R	ENSP00000302547:S511R	S	-	3	2	TTLL6	44201572	0.982000	0.34865	0.829000	0.32907	0.218000	0.24690	1.300000	0.33436	0.844000	0.35094	0.462000	0.41574	AGC	TTLL6	-	NULL		0.547	TTLL6-003	KNOWN	downstream_ATG|non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	TTLL6	HGNC	protein_coding	OTTHUMT00000346939.3	G	NM_173623		46846573	-1	no_errors	ENST00000393382	ensembl	human	known	70_37	missense	SNP	0.822	T
UBQLN2	29978	genome.wustl.edu	37	X	56590601	56590601	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chrX:56590601C>T	ENST00000338222.5	+	1	576	c.295C>T	c.(295-297)Cac>Tac	p.H99Y		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	99	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GCTGACTGTTCACCTTGTCAT	0.507																																					Esophageal Squamous(104;218 1492 6022 10838 28884)												0													44.0	44.0	44.0					X																	56590601		2203	4300	6503	SO:0001583	missense	29978			AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.295C>T	X.37:g.56590601C>T	ENSP00000345195:p.His99Tyr		O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.H99Y	ENST00000338222.5	37	c.295	CCDS14374.1	X	.	.	.	.	.	.	.	.	.	.	C	14.43	2.531742	0.45073	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.77229	-1.08	4.73	4.73	0.59995	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.85682	D	0.000000	D	0.86965	0.6060	M	0.75447	2.3	0.80722	D	1	P;D	0.76494	0.911;0.999	D;D	0.91635	0.981;0.999	D	0.87858	0.2662	10	0.56958	D	0.05	-11.451	14.365	0.66801	0.0:1.0:0.0:0.0	.	99;99	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	Y	99	ENSP00000345195:H99Y	ENSP00000345195:H99Y	H	+	1	0	UBQLN2	56607326	1.000000	0.71417	1.000000	0.80357	0.413000	0.31143	7.585000	0.82584	2.358000	0.79984	0.600000	0.82982	CAC	UBQLN2	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup		0.507	UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBQLN2	HGNC	protein_coding	OTTHUMT00000056891.1	C	NM_013444		56590601	+1	no_errors	ENST00000338222	ensembl	human	known	70_37	missense	SNP	1.000	T
ZC3H13	23091	genome.wustl.edu	37	13	46549845	46549845	+	Missense_Mutation	SNP	G	G	C			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr13:46549845G>C	ENST00000242848.4	-	12	2389	c.2041C>G	c.(2041-2043)Cgg>Ggg	p.R681G	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R681G			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	681	Arg/Glu-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		tctcgttcccgatctctctct	0.507																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0													256.0	148.0	184.0					13																	46549845		2203	4300	6503	SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.2041C>G	13.37:g.46549845G>C	ENSP00000242848:p.Arg681Gly		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R681G	ENST00000242848.4	37	c.2041		13	.	.	.	.	.	.	.	.	.	.	G	2.844	-0.239759	0.05944	.	.	ENSG00000123200	ENST00000242848;ENST00000282007	T;T	0.38560	2.14;1.13	4.84	3.94	0.45596	.	0.000000	0.56097	D	0.000027	T	0.55878	0.1948	.	.	.	0.80722	D	1	D;D	0.60575	0.979;0.988	P;P	0.57911	0.68;0.829	T	0.58521	-0.7622	9	0.51188	T	0.08	.	11.5322	0.50616	0.0:0.0:0.6082:0.3918	.	681;681	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	G	681	ENSP00000242848:R681G;ENSP00000282007:R681G	ENSP00000242848:R681G	R	-	1	2	ZC3H13	45447846	0.260000	0.24053	0.977000	0.42913	0.223000	0.24884	0.450000	0.21762	1.239000	0.43787	0.557000	0.71058	CGG	ZC3H13	-	NULL		0.507	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	ZC3H13	HGNC	protein_coding	OTTHUMT00000044789.1	G	NM_015070		46549845	-1	no_errors	ENST00000242848	ensembl	human	known	70_37	missense	SNP	0.987	C
ZNF318	24149	genome.wustl.edu	37	6	43309879	43309879	+	Missense_Mutation	SNP	C	C	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr6:43309879C>T	ENST00000361428.2	-	8	3424	c.3347G>A	c.(3346-3348)cGc>cAc	p.R1116H	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1116					meiotic nuclear division (GO:0007126)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)	p.R1116L(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTGTCAGTGCGCTTTATGGC	0.463																																																	1	Substitution - Missense(1)	lung(1)											238.0	185.0	203.0					6																	43309879		2203	4300	6503	SO:0001583	missense	24149			AF090114	CCDS4895.2	6p21.1	2013-09-19			ENSG00000171467	ENSG00000171467		"""Zinc fingers, C2H2-type"""	13578	protein-coding gene	gene with protein product						10873617	Standard	NM_014345		Approved	HRIHFB2436, ZFP318	uc003oux.3	Q5VUA4	OTTHUMG00000014732	ENST00000361428.2:c.3347G>A	6.37:g.43309879C>T	ENSP00000354964:p.Arg1116His		O94796|Q4G0E4|Q8NEM6|Q9UNU8|Q9Y2W9	Missense_Mutation	SNP	smart_Znf_U1	p.R1116H	ENST00000361428.2	37	c.3347	CCDS4895.2	6	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981351	0.74474	.	.	ENSG00000171467	ENST00000361428	T	0.13420	2.59	5.9	5.03	0.67393	.	0.326176	0.34879	N	0.003619	T	0.17959	0.0431	L	0.40543	1.245	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.01452	-1.1351	10	0.72032	D	0.01	-4.1162	13.178	0.59639	0.0:0.9268:0.0:0.0732	.	1116	Q5VUA4	ZN318_HUMAN	H	1116	ENSP00000354964:R1116H	ENSP00000354964:R1116H	R	-	2	0	ZNF318	43417857	0.993000	0.37304	1.000000	0.80357	0.988000	0.76386	1.630000	0.37081	1.503000	0.48686	0.563000	0.77884	CGC	ZNF318	-	NULL		0.463	ZNF318-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF318	HGNC	protein_coding	OTTHUMT00000040601.2	C	NM_014345		43309879	-1	no_errors	ENST00000361428	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF804B	219578	genome.wustl.edu	37	7	88964910	88964910	+	Nonsense_Mutation	SNP	C	C	T			TCGA-JX-A5QV-01A-22D-A28B-09	TCGA-JX-A5QV-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	915825bd-5ffc-4cca-a0c0-5ce6809dad1b	2d5c7dac-d0d8-4618-96cf-993ef74fc7e9	g.chr7:88964910C>T	ENST00000333190.4	+	4	3223	c.2614C>T	c.(2614-2616)Caa>Taa	p.Q872*		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	872							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CAAGAGAAATCAAGAGTCTTT	0.423										HNSCC(36;0.09)																																							0													60.0	62.0	61.0					7																	88964910		2203	4299	6502	SO:0001587	stop_gained	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2614C>T	7.37:g.88964910C>T	ENSP00000329638:p.Gln872*		B2RTV2|Q7Z714|Q96MN7	Nonsense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.Q872*	ENST00000333190.4	37	c.2614	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	38	7.182876	0.98118	.	.	ENSG00000182348	ENST00000333190	.	.	.	4.95	3.13	0.36017	.	1.061480	0.07264	N	0.867883	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	0.2361	6.2299	0.20728	0.1174:0.5008:0.3094:0.0724	.	.	.	.	X	872	.	ENSP00000329638:Q872X	Q	+	1	0	ZNF804B	88802846	0.000000	0.05858	0.002000	0.10522	0.013000	0.08279	-0.431000	0.06965	0.691000	0.31592	-0.122000	0.15005	CAA	ZNF804B	-	NULL		0.423	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	C	NM_181646		88964910	+1	no_errors	ENST00000333190	ensembl	human	known	70_37	nonsense	SNP	0.000	T
