#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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCA8	10351	genome.wustl.edu	37	17	66920927	66920927	+	Missense_Mutation	SNP	G	G	T			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr17:66920927G>T	ENST00000269080.2	-	10	1494	c.1357C>A	c.(1357-1359)Ctt>Att	p.L453I	ABCA8_ENST00000430352.2_Missense_Mutation_p.L453I|ABCA8_ENST00000586539.1_Missense_Mutation_p.L453I	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	453					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TCATCTTCAAGGGCCACGTGA	0.448																																						dbGAP											0													138.0	128.0	131.0					17																	66920927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.1357C>A	17.37:g.66920927G>T	ENSP00000269080:p.Leu453Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3U3|C9JQE6|Q86WW0	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L453I	ENST00000269080.2	37	c.1357	CCDS11680.1	17	.	.	.	.	.	.	.	.	.	.	G	9.645	1.139963	0.21205	.	.	ENSG00000141338	ENST00000269080;ENST00000430352;ENST00000541225;ENST00000542396	D;D	0.86497	-2.13;-2.11	4.64	1.34	0.21922	.	0.427722	0.19202	N	0.120152	T	0.73385	0.3580	N	0.20685	0.6	0.09310	N	0.999999	B;B;B;B;B	0.28378	0.165;0.103;0.028;0.04;0.209	B;B;B;B;B	0.27796	0.083;0.056;0.016;0.034;0.038	T	0.58808	-0.7571	10	0.20046	T	0.44	.	7.6624	0.28410	0.1562:0.1368:0.707:0.0	.	392;453;453;453;453	F5H6Z4;A1L3U3;B4DJ11;C9JQE6;O94911	.;.;.;.;ABCA8_HUMAN	I	453;453;392;84	ENSP00000269080:L453I;ENSP00000402814:L453I	ENSP00000269080:L453I	L	-	1	0	ABCA8	64432522	0.000000	0.05858	0.377000	0.26055	0.185000	0.23345	0.625000	0.24477	0.679000	0.31345	0.591000	0.81541	CTT	ABCA8	-	NULL	ENSG00000141338		0.448	ABCA8-001	KNOWN	basic|CCDS	protein_coding	ABCA8	HGNC	protein_coding	OTTHUMT00000450172.1	53	0.00	0	G	NM_007168		66920927	66920927	-1	no_errors	ENST00000430352	ensembl	human	known	69_37n	missense	34	40.35	23	SNP	0.211	T
CCER1	196477	genome.wustl.edu	37	12	91347459	91347459	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr12:91347459C>T	ENST00000358859.2	-	1	1494	c.1061G>A	c.(1060-1062)gGg>gAg	p.G354E	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	354	Glu-rich.																AAATTCTTCCCCTCTCTGCTC	0.488																																						dbGAP											0													183.0	163.0	170.0					12																	91347459		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.1061G>A	12.37:g.91347459C>T	ENSP00000351727:p.Gly354Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TC47	Missense_Mutation	SNP	NULL	p.G354E	ENST00000358859.2	37	c.1061	CCDS9036.1	12	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.188642	0.00305	.	.	ENSG00000197651	ENST00000358859	T	0.33654	1.4	5.04	-1.73	0.08081	.	1.101550	0.07218	N	0.860368	T	0.12475	0.0303	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.26985	-1.0087	10	0.02654	T	1	-1.6592	4.4639	0.11680	0.0:0.2829:0.3244:0.3927	.	354	Q8TC90	CL012_HUMAN	E	354	ENSP00000351727:G354E	ENSP00000351727:G354E	G	-	2	0	C12orf12	89871590	0.000000	0.05858	0.131000	0.22000	0.012000	0.07955	-0.794000	0.04584	-0.459000	0.07013	-0.384000	0.06662	GGG	CCER1	-	NULL	ENSG00000197651		0.488	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCER1	HGNC	protein_coding	OTTHUMT00000407142.2	87	0.00	0	C	NM_152638		91347459	91347459	-1	no_errors	ENST00000358859	ensembl	human	known	69_37n	missense	59	31.40	27	SNP	0.041	T
CHST8	64377	genome.wustl.edu	37	19	34263642	34263642	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr19:34263642G>A	ENST00000262622.4	+	4	1707	c.949G>A	c.(949-951)Gac>Aac	p.D317N	CHST8_ENST00000434302.1_Missense_Mutation_p.D317N|CHST8_ENST00000438847.3_Missense_Mutation_p.D317N	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	317					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GTACCTGCTGGACGTGCACCG	0.652																																						dbGAP											0													62.0	52.0	55.0					19																	34263642		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.949G>A	19.37:g.34263642G>A	ENSP00000262622:p.Asp317Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H3N2	Missense_Mutation	SNP	pfam_Sulfotransferase	p.D317N	ENST00000262622.4	37	c.949	CCDS12433.1	19	.	.	.	.	.	.	.	.	.	.	G	28.9	4.959479	0.92791	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.72394	-0.65;-0.65;-0.65	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	D	0.82825	0.5121	M	0.68317	2.08	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.83708	0.0186	10	0.51188	T	0.08	-24.4149	17.2896	0.87152	0.0:0.0:1.0:0.0	.	317	Q9H2A9	CHST8_HUMAN	N	317	ENSP00000392604:D317N;ENSP00000393879:D317N;ENSP00000262622:D317N	ENSP00000262622:D317N	D	+	1	0	CHST8	38955482	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	9.807000	0.99171	2.331000	0.79229	0.297000	0.19635	GAC	CHST8	-	pfam_Sulfotransferase	ENSG00000124302		0.652	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CHST8	HGNC	protein_coding	OTTHUMT00000451453.1	16	0.00	0	G	NM_022467		34263642	34263642	+1	no_errors	ENST00000262622	ensembl	human	known	69_37n	missense	12	42.86	9	SNP	1.000	A
EEF2	1938	genome.wustl.edu	37	19	3983150	3983150	+	Missense_Mutation	SNP	G	G	C			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr19:3983150G>C	ENST00000309311.6	-	3	446	c.358C>G	c.(358-360)Cga>Gga	p.R120G	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	120	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGGTGACTCGGAGGGCAGCA	0.622																																					Colon(165;1804 1908 4071 6587 18799)	dbGAP											0													87.0	88.0	88.0					19																	3983150		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.358C>G	19.37:g.3983150G>C	ENSP00000307940:p.Arg120Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	p.R120G	ENST00000309311.6	37	c.358	CCDS12117.1	19	.	.	.	.	.	.	.	.	.	.	G	17.20	3.329217	0.60743	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	T	0.80123	-1.34	5.37	5.37	0.77165	Small GTP-binding protein domain (1);Protein synthesis factor, GTP-binding (2);	0.109289	0.64402	D	0.000010	D	0.91399	0.7286	M	0.89478	3.035	0.80722	D	1	D	0.69078	0.997	D	0.81914	0.995	D	0.92846	0.6293	10	0.87932	D	0	-11.7243	18.0813	0.89442	0.0:0.0:1.0:0.0	.	120	P13639	EF2_HUMAN	G	120	ENSP00000307940:R120G	ENSP00000307940:R120G	R	-	1	2	EEF2	3934150	1.000000	0.71417	0.291000	0.24904	0.157000	0.22087	4.569000	0.60865	2.511000	0.84671	0.655000	0.94253	CGA	EEF2	-	pfam_ProtSyn_GTP-bd,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom	ENSG00000167658		0.622	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	20	0.00	0	G	NM_001961		3983150	3983150	-1	no_errors	ENST00000309311	ensembl	human	known	69_37n	missense	16	32.00	8	SNP	1.000	C
CYP2S1	29785	genome.wustl.edu	37	19	41704416	41704416	+	Silent	SNP	A	A	T			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr19:41704416A>T	ENST00000310054.4	+	4	759	c.543A>T	c.(541-543)gtA>gtT	p.V181V	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	181					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CCTCCAACGTAGTCTGCTCCC	0.652																																						dbGAP											0													139.0	125.0	130.0					19																	41704416		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.543A>T	19.37:g.41704416A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BZ66	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B	p.V181	ENST00000310054.4	37	c.543	CCDS12573.1	19																																																																																			CYP2S1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I	ENSG00000167600		0.652	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2S1	HGNC	protein_coding	OTTHUMT00000463287.1	36	0.00	0	A			41704416	41704416	+1	no_errors	ENST00000310054	ensembl	human	known	69_37n	silent	30	38.78	19	SNP	0.001	T
EGF	1950	genome.wustl.edu	37	4	110925680	110925680	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr4:110925680A>G	ENST00000265171.5	+	22	3638	c.3193A>G	c.(3193-3195)Aaa>Gaa	p.K1065E	EGF_ENST00000503392.1_Missense_Mutation_p.K1024E|EGF_ENST00000509793.1_Missense_Mutation_p.K1023E	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1065					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	GCTGCTATCGAAAAACCCAAA	0.468																																						dbGAP											0													128.0	132.0	131.0					4																	110925680		2203	4300	6503	-	-	-	SO:0001583	missense	0			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.3193A>G	4.37:g.110925680A>G	ENSP00000265171:p.Lys1065Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_LDLR_classB_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.K1065E	ENST00000265171.5	37	c.3193	CCDS3689.1	4	.	.	.	.	.	.	.	.	.	.	A	1.049	-0.676552	0.03378	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.89485	-2.52;-2.43;-2.12	3.52	2.35	0.29111	.	0.594243	0.16955	N	0.192718	T	0.76321	0.3971	N	0.19112	0.55	0.09310	N	1	B;B;B	0.32829	0.386;0.275;0.18	B;B;B	0.26202	0.03;0.067;0.03	T	0.66787	-0.5835	10	0.49607	T	0.09	.	5.5416	0.17041	0.874:0.0:0.126:0.0	.	1024;1023;1065	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	E	1023;1065;1024	ENSP00000424316:K1023E;ENSP00000265171:K1065E;ENSP00000421384:K1024E	ENSP00000265171:K1065E	K	+	1	0	EGF	111145129	0.034000	0.19679	0.002000	0.10522	0.013000	0.08279	1.691000	0.37721	0.719000	0.32188	-0.256000	0.11100	AAA	EGF	-	pirsf_Pro-epidermal_GF	ENSG00000138798		0.468	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	HGNC	protein_coding	OTTHUMT00000255065.1	38	0.00	0	A			110925680	110925680	+1	no_errors	ENST00000265171	ensembl	human	known	69_37n	missense	31	44.64	25	SNP	0.003	G
GOLGA8K	653125	genome.wustl.edu	37	15	32689491	32689491	+	Silent	SNP	T	T	C			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr15:32689491T>C	ENST00000512626.2	-	10	699	c.699A>G	c.(697-699)caA>caG	p.Q233Q	RP13-395E19.3_ENST00000562108.1_RNA|RN7SL185P_ENST00000492212.2_RNA					golgin A8 family, member K																		CTAATTGGACTTGTTGAAAAG	0.502																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0				CCDS61577.1	15q13.3	2012-10-05			ENSG00000249931	ENSG00000249931			38652	protein-coding gene	gene with protein product							Standard	NM_001282493		Approved			D6RF30	OTTHUMG00000175395	ENST00000512626.2:c.699A>G	15.37:g.32689491T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.Q233	ENST00000512626.2	37	c.699		15																																																																																			RP13-395E19.1	-	NULL	ENSG00000249931		0.502	GOLGA8K-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	GOLGA8J	Clone_based_vega_gene	protein_coding	OTTHUMT00000371108.2	24	0.00	0	T	XM_003118652.2		32689491	32689491	-1	no_errors	ENST00000512626	ensembl	human	novel	69_37n	silent	25	28.57	10	SNP	0.003	C
IGDCC3	9543	genome.wustl.edu	37	15	65622726	65622726	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr15:65622726G>A	ENST00000327987.4	-	11	2014	c.1763C>T	c.(1762-1764)gCa>gTa	p.A588V	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	588	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CTCATACACTGCAGTGGGGTC	0.602																																						dbGAP											0													142.0	118.0	126.0					15																	65622726		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.1763C>T	15.37:g.65622726G>A	ENSP00000332773:p.Ala588Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O95215	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A588V	ENST00000327987.4	37	c.1763	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	G	6.046	0.376874	0.11466	.	.	ENSG00000174498	ENST00000327987;ENST00000443278	T	0.57436	0.4	5.26	0.0423	0.14217	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.948764	0.08869	N	0.881826	T	0.31295	0.0792	N	0.17082	0.46	0.09310	N	1	B	0.16802	0.019	B	0.16289	0.015	T	0.20338	-1.0278	10	0.25751	T	0.34	-3.1016	5.2669	0.15603	0.6438:0.0:0.1834:0.1728	.	588	Q8IVU1	IGDC3_HUMAN	V	588;451	ENSP00000332773:A588V	ENSP00000332773:A588V	A	-	2	0	IGDCC3	63409779	0.122000	0.22280	0.000000	0.03702	0.001000	0.01503	3.247000	0.51422	0.157000	0.19338	-0.136000	0.14681	GCA	IGDCC3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000174498		0.602	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	29	0.00	0	G	NM_004884		65622726	65622726	-1	no_errors	ENST00000327987	ensembl	human	known	69_37n	missense	26	18.75	6	SNP	0.004	A
KCNH8	131096	genome.wustl.edu	37	3	19295241	19295241	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr3:19295241A>G	ENST00000328405.2	+	2	438	c.172A>G	c.(172-174)Act>Gct	p.T58A		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	58	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATTTGCCCGAACTGAAGTCAT	0.458																																					NSCLC(124;1625 1765 8018 24930 42026)	dbGAP											0													176.0	182.0	180.0					3																	19295241		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.172A>G	3.37:g.19295241A>G	ENSP00000328813:p.Thr58Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS	p.T58A	ENST00000328405.2	37	c.172	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	A	9.998	1.232694	0.22626	.	.	ENSG00000183960	ENST00000328405	D	0.99466	-5.95	5.48	5.48	0.80851	PAS fold-3 (1);PAS (1);	0.000000	0.32343	U	0.006229	D	0.95620	0.8576	N	0.01109	-1.01	0.80722	D	1	B;B	0.22414	0.002;0.069	B;B	0.27500	0.014;0.08	D	0.94821	0.7987	9	.	.	.	.	15.5697	0.76323	1.0:0.0:0.0:0.0	.	58;58	B7Z398;Q96L42	.;KCNH8_HUMAN	A	58	ENSP00000328813:T58A	.	T	+	1	0	KCNH8	19270245	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	5.058000	0.64300	2.065000	0.61736	0.533000	0.62120	ACT	KCNH8	-	pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,tigrfam_PAS	ENSG00000183960		0.458	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	HGNC	protein_coding	OTTHUMT00000252139.2	62	0.00	0	A	NM_144633		19295241	19295241	+1	no_errors	ENST00000328405	ensembl	human	known	69_37n	missense	60	39.39	39	SNP	1.000	G
LIPT1	51601	genome.wustl.edu	37	2	99778927	99778927	+	Silent	SNP	C	C	T			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr2:99778927C>T	ENST00000393473.2	+	3	731	c.507C>T	c.(505-507)atC>atT	p.I169I	LIPT1_ENST00000340066.1_Silent_p.I169I|LIPT1_ENST00000393471.2_Silent_p.I169I|LIPT1_ENST00000393474.3_Silent_p.I169I|LIPT1_ENST00000393477.3_Silent_p.I169I|MRPL30_ENST00000410042.1_Intron	NM_001204830.1|NM_015929.3	NP_001191759.1|NP_057013.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	169	BPL/LPL catalytic. {ECO:0000255|PROSITE- ProRule:PRU01067}.				cellular protein modification process (GO:0006464)|lipid metabolic process (GO:0006629)|protein lipoylation (GO:0009249)	mitochondrion (GO:0005739)	transferase activity, transferring acyl groups (GO:0016746)			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	CTTCTAAGATCGGCCGGACTA	0.453																																					GBM(84;665 1268 21657 25485 30647)	dbGAP											0													133.0	118.0	123.0					2																	99778927		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB017566	CCDS2039.1	2q11.2	2010-11-25			ENSG00000144182	ENSG00000144182	2.3.1.181		29569	protein-coding gene	gene with protein product		610284				10103005	Standard	NM_145197		Approved	MGC12290, MGC13378	uc002szq.4	Q9Y234	OTTHUMG00000130640	ENST00000393473.2:c.507C>T	2.37:g.99778927C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZFZ1	Silent	SNP	pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase	p.I169	ENST00000393473.2	37	c.507	CCDS2039.1	2																																																																																			LIPT1	-	pfam_BPL_LipA_LipB,tigrfam_LipoylTrfase_LipoateP_Ligase	ENSG00000144182		0.453	LIPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIPT1	HGNC	protein_coding	OTTHUMT00000253128.1	45	0.00	0	C	NM_015929		99778927	99778927	+1	no_errors	ENST00000340066	ensembl	human	known	69_37n	silent	16	50.00	16	SNP	0.992	T
MET	4233	genome.wustl.edu	37	7	116399515	116399515	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr7:116399515G>A	ENST00000318493.6	+	10	2576	c.2389G>A	c.(2389-2391)Gtg>Atg	p.V797M	MET_ENST00000436117.2_Intron|MET_ENST00000397752.3_Missense_Mutation_p.V779M			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GGTCATAAATGTGCATGAAGC	0.433			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													dbGAP		Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	met proto-oncogene (hepatocyte growth factor receptor)		E	0													107.0	107.0	107.0					7																	116399515		1935	4127	6062	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.2389G>A	7.37:g.116399515G>A	ENSP00000317272:p.Val797Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom	p.V797M	ENST00000318493.6	37	c.2389	CCDS47689.1	7	.	.	.	.	.	.	.	.	.	.	G	15.35	2.807039	0.50421	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000422097	T;T;T	0.73681	-0.77;0.29;-0.77	5.87	4.99	0.66335	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.294735	0.38164	N	0.001795	D	0.84982	0.5593	M	0.71581	2.175	0.80722	D	1	D;P;P;D	0.89917	1.0;0.822;0.887;0.994	D;B;P;D	0.91635	0.999;0.426;0.751;0.917	D	0.85493	0.1186	10	0.46703	T	0.11	.	15.5433	0.76074	0.0:0.1372:0.8628:0.0	.	779;779;797;779	B5A929;B5A930;P08581-2;P08581	.;.;.;MET_HUMAN	M	779;797;59	ENSP00000380860:V779M;ENSP00000317272:V797M;ENSP00000398776:V59M	ENSP00000317272:V797M	V	+	1	0	MET	116186751	1.000000	0.71417	0.825000	0.32803	0.368000	0.29767	2.760000	0.47581	1.490000	0.48466	-0.226000	0.12346	GTG	MET	-	pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000105976		0.433	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MET	HGNC	protein_coding	OTTHUMT00000059620.3	36	0.00	0	G			116399515	116399515	+1	no_errors	ENST00000318493	ensembl	human	known	69_37n	missense	28	41.67	20	SNP	0.964	A
LRGUK	136332	genome.wustl.edu	37	7	133842882	133842882	+	Silent	SNP	A	A	G			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr7:133842882A>G	ENST00000285928.2	+	6	834	c.765A>G	c.(763-765)ttA>ttG	p.L255L		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	255						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TTAATGGCTTAAACAAGTTAC	0.333																																						dbGAP											0													131.0	116.0	121.0					7																	133842882		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.765A>G	7.37:g.133842882A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3I1	Silent	SNP	pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	p.L255	ENST00000285928.2	37	c.765	CCDS5830.1	7																																																																																			LRGUK	-	NULL	ENSG00000155530		0.333	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRGUK	HGNC	protein_coding	OTTHUMT00000339442.1	55	0.00	0	A	NM_144648		133842882	133842882	+1	no_errors	ENST00000285928	ensembl	human	known	69_37n	silent	44	13.73	7	SNP	0.015	G
MPV17L2	84769	genome.wustl.edu	37	19	18304729	18304729	+	Silent	SNP	G	G	A			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr19:18304729G>A	ENST00000599612.2	+	2	343	c.243G>A	c.(241-243)ttG>ttA	p.L81L		NM_032683.2	NP_116072.2	Q567V2	M17L2_HUMAN	MPV17 mitochondrial membrane protein-like 2	81						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				large_intestine(1)|lung(2)|urinary_tract(1)	4						ACTGGTACTTGTCGCTGGACC	0.602																																						dbGAP											0													100.0	104.0	103.0					19																	18304729		2058	4208	6266	-	-	-	SO:0001819	synonymous_variant	0			AK094091	CCDS42522.1	19p13.11	2011-05-26			ENSG00000254858	ENSG00000254858			28177	protein-coding gene	gene with protein product						12477932	Standard	NM_032683		Approved	FKSG24, MGC12972	uc002nid.3	Q567V2	OTTHUMG00000165628	ENST00000599612.2:c.243G>A	19.37:g.18304729G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96P34|Q96QA0|Q9BSG4	Silent	SNP	pfam_Mpv17_PMP22	p.L81	ENST00000599612.2	37	c.243	CCDS42522.1	19																																																																																			MPV17L2	-	NULL	ENSG00000254858		0.602	MPV17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPV17L2	HGNC	protein_coding	OTTHUMT00000466294.2	44	0.00	0	G	NM_032683		18304729	18304729	+1	no_errors	ENST00000247712	ensembl	human	known	69_37n	silent	34	33.33	17	SNP	0.623	A
MUC5B	727897	genome.wustl.edu	37	11	1268579	1268579	+	Missense_Mutation	SNP	T	T	G	rs190148881	byFrequency	TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr11:1268579T>G	ENST00000529681.1	+	31	10527	c.10469T>G	c.(10468-10470)gTg>gGg	p.V3490G	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.V3493G	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3490	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|V -> G (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.V3469G(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTTCCACGGTGACTTCCCAC	0.667																																						dbGAP											1	Substitution - Missense(1)	skin(1)											101.0	122.0	115.0					11																	1268579		2134	4215	6349	-	-	-	SO:0001583	missense	0			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10469T>G	11.37:g.1268579T>G	ENSP00000436812:p.Val3490Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.V3493G	ENST00000529681.1	37	c.10478	CCDS44515.2	11	29	0.013278388278388278	10	0.02032520325203252	7	0.019337016574585635	2	0.0034965034965034965	10	0.013192612137203167	t	2.632	-0.286071	0.05605	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21932	1.98;2.17	1.44	-1.72	0.08107	.	.	.	.	.	T	0.10165	0.0249	L	0.43152	1.355	0.09310	N	1	P;P	0.44090	0.826;0.563	P;B	0.48571	0.582;0.032	T	0.14504	-1.0470	9	0.87932	D	0	.	2.5883	0.04836	0.0:0.381:0.2946:0.3243	.	4018;3493	A7Y9J9;E9PBJ0	.;.	G	3490;3493;3462;3395	ENSP00000436812:V3490G;ENSP00000415793:V3493G	ENSP00000343037:V3462G	V	+	2	0	MUC5B	1225155	0.000000	0.05858	0.001000	0.08648	0.089000	0.18198	-2.439000	0.01016	-0.179000	0.10654	0.246000	0.17985	GTG	MUC5B	-	NULL	ENSG00000117983		0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	60	0.00	0	T	XM_001126093		1268579	1268579	+1	no_errors	ENST00000447027	ensembl	human	known	69_37n	missense	73	10.98	9	SNP	0.000	G
OFD1	8481	genome.wustl.edu	37	X	13774756	13774756	+	Silent	SNP	G	G	T			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chrX:13774756G>T	ENST00000340096.6	+	13	1608	c.1281G>T	c.(1279-1281)ctG>ctT	p.L427L	OFD1_ENST00000380550.3_Silent_p.L387L|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380567.1_Silent_p.L287L	NM_003611.2	NP_003602.1	O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	427					axoneme assembly (GO:0035082)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytosol (GO:0005829)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|gamma-tubulin binding (GO:0043015)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						ACCATATGCTGAATGAAAAGG	0.313																																						dbGAP											0													82.0	86.0	84.0					X																	13774756		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			Y15164	CCDS14157.1	Xp22	2014-06-18			ENSG00000046651	ENSG00000046651			2567	protein-coding gene	gene with protein product		300170	"""retinitis pigmentosa 23 (X-linked recessive)"""	CXorf5, RP23		9722947, 9215688, 22619378	Standard	NM_003611		Approved	71-7A, JBTS10	uc004cvp.4	O75665	OTTHUMG00000021159	ENST00000340096.6:c.1281G>T	X.37:g.13774756G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B9ZVU5|O75666|Q4VAK4	Silent	SNP	superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.L427	ENST00000340096.6	37	c.1281	CCDS14157.1	X																																																																																			OFD1	-	superfamily_Lipoprotein_6	ENSG00000046651		0.313	OFD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OFD1	HGNC	protein_coding	OTTHUMT00000055808.1	56	0.00	0	G	NM_003611		13774756	13774756	+1	no_errors	ENST00000340096	ensembl	human	known	69_37n	silent	31	11.43	4	SNP	0.887	T
PADI6	353238	genome.wustl.edu	37	1	17701986	17701986	+	RNA	SNP	C	C	G			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr1:17701986C>G	ENST00000434762.2	+	0	409							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CTGTACCTCACTGGCATTGGT	0.582																																						dbGAP											0													43.0	42.0	42.0					1																	17701986		1987	4158	6145	-	-	-			0			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17701986C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q330K5|Q70SX3	RNA	SNP	-	NULL	ENST00000434762.2	37	NULL		1																																																																																			PADI6	-	-	ENSG00000256049		0.582	PADI6-001	KNOWN	basic	processed_transcript	PADI6	HGNC	processed_transcript	OTTHUMT00000006804.4	34	0.00	0	C	NM_207421		17701986	17701986	+1	no_errors	ENST00000358481	ensembl	human	known	69_37n	rna	12	52.00	13	SNP	0.986	G
PI15	51050	genome.wustl.edu	37	8	75756324	75756324	+	Missense_Mutation	SNP	C	C	T	rs200651515		TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr8:75756324C>T	ENST00000260113.2	+	3	561	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	PI15_ENST00000523773.1_Missense_Mutation_p.R128C|RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	128	SCP.					extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			TCTATCTGTACGCACTGGAAG	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		16624	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													165.0	163.0	164.0					8																	75756324		2203	4300	6503	-	-	-	SO:0001583	missense	0			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.382C>T	8.37:g.75756324C>T	ENSP00000260113:p.Arg128Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68CY1	Missense_Mutation	SNP	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.R128C	ENST00000260113.2	37	c.382	CCDS6218.1	8	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	16.96	3.266858	0.59540	.	.	ENSG00000137558	ENST00000260113;ENST00000523773	T;T	0.08193	3.12;3.12	4.97	4.07	0.47477	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.21674	0.0522	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.63703	0.917	T	0.00615	-1.1643	10	0.54805	T	0.06	.	12.8558	0.57884	0.4082:0.5918:0.0:0.0	.	128	O43692	PI15_HUMAN	C	128	ENSP00000260113:R128C;ENSP00000428567:R128C	ENSP00000260113:R128C	R	+	1	0	PI15	75918879	0.066000	0.20996	1.000000	0.80357	0.996000	0.88848	0.114000	0.15520	1.386000	0.46466	0.591000	0.81541	CGC	PI15	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1	ENSG00000137558		0.408	PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PI15	HGNC	protein_coding	OTTHUMT00000379115.1	56	0.00	0	C	NM_015886		75756324	75756324	+1	no_errors	ENST00000260113	ensembl	human	known	69_37n	missense	91	17.27	19	SNP	0.989	T
PIK3CA	5290	genome.wustl.edu	37	3	178921567	178921567	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr3:178921567A>G	ENST00000263967.3	+	5	1206	c.1049A>G	c.(1048-1050)gAc>gGc	p.D350G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	350	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.D350G(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATATTCGAGACATTGATAAG	0.299		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	2	Substitution - Missense(2)	large_intestine(2)											58.0	58.0	58.0					3																	178921567		1805	4073	5878	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1049A>G	3.37:g.178921567A>G	ENSP00000263967:p.Asp350Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.D350G	ENST00000263967.3	37	c.1049	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	21.6	4.180265	0.78677	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	5.41	0.78517	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.73001	0.3531	M	0.65498	2.005	0.80722	D	1	P	0.42010	0.768	P	0.48952	0.596	T	0.71859	-0.4465	10	0.33141	T	0.24	-23.1794	15.721	0.77710	1.0:0.0:0.0:0.0	.	350	P42336	PK3CA_HUMAN	G	350	ENSP00000263967:D350G	ENSP00000263967:D350G	D	+	2	0	PIK3CA	180404261	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.851000	0.92205	2.166000	0.68216	0.402000	0.26972	GAC	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.299	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	21	0.00	0	A			178921567	178921567	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	11	42.11	8	SNP	1.000	G
POLR2J	5439	genome.wustl.edu	37	7	102119254	102119256	+	Splice_Site	DEL	CTT	CTT	-	rs141678884		TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	CTT	CTT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr7:102119254_102119256delCTT	ENST00000292614.5	-	1	98_100	c.52_54delAAG	c.(52-54)aagdel	p.K18del	POLR2J_ENST00000393794.3_Splice_Site_p.K18del|AC093668.3_ENST00000607525.1_RNA	NM_006234.4	NP_006225.1	P52435	RPB11_HUMAN	polymerase (RNA) II (DNA directed) polypeptide J, 13.3kDa	18					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|LRR domain binding (GO:0030275)	p.?(1)		pancreas(2)	2						GCGTCACTTACTTCTTCTCGCCC	0.685											OREG0018232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Unknown(1)	pancreas(1)								54,3764		3,48,1858						2.5	1.0			17	108,7482		12,84,3699	no	coding-near-splice	POLR2J	NM_006234.4		15,132,5557	A1A1,A1R,RR		1.4229,1.4144,1.4201				162,11246				-	-	-	SO:0001630	splice_region_variant	0			X98433	CCDS5724.1	7q11.2	2013-01-21	2002-08-29		ENSG00000005075	ENSG00000005075		"""RNA polymerase subunits"""	9197	protein-coding gene	gene with protein product		604150	"""polymerase (RNA) II (DNA directed) polypeptide J (13.3kD)"""				Standard	XM_005250452		Approved	RPB11, hRPB14, RPB11A, RPB11m, POLR2J1	uc003uzp.1	P52435	OTTHUMG00000150387	ENST00000292614.5:c.53+1AAG>-	7.37:g.102119257_102119259delCTT		Somatic	1364	WXS	Illumina GAIIx	Phase_IV	A5D6V8|O43375	Splice_Site	DEL	-	e2-1	ENST00000292614.5	37	c.53+3_53+1	CCDS5724.1	7																																																																																			POLR2J	-	-	ENSG00000005075		0.685	POLR2J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2J	HGNC	protein_coding	OTTHUMT00000317913.1	14	0.00	0	CTT	NM_006234	In_Frame_Del	102119254	102119256	-1	no_errors	ENST00000393794	ensembl	human	known	69_37n	splice_site_del	15	11.76	2	DEL	1.000:1.000:1.000	-
PRKCD	5580	genome.wustl.edu	37	3	53223092	53223092	+	Missense_Mutation	SNP	T	T	A			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr3:53223092T>A	ENST00000394729.2	+	16	1901	c.1573T>A	c.(1573-1575)Tac>Aac	p.Y525N	PRKCD_ENST00000330452.3_Missense_Mutation_p.Y525N	NM_212539.1	NP_997704.1	Q05655	KPCD_HUMAN	protein kinase C, delta	525	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular senescence (GO:0090398)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-10 production (GO:0032613)|interleukin-12 production (GO:0032615)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|mRNA metabolic process (GO:0016071)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of filopodium assembly (GO:0051490)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of inflammatory response (GO:0050728)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein binding (GO:0032091)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil activation (GO:0042119)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of glucosylceramide catabolic process (GO:2000753)|positive regulation of phospholipid scramblase activity (GO:1900163)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sphingomyelin catabolic process (GO:2000755)|positive regulation of superoxide anion generation (GO:0032930)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of receptor activity (GO:0010469)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|termination of signal transduction (GO:0023021)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-independent protein kinase C activity (GO:0004699)|enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|insulin receptor substrate binding (GO:0043560)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)	Ingenol Mebutate(DB05013)|Tamoxifen(DB00675)	GGGCCTGAAGTACACATTCTC	0.592																																						dbGAP											0													88.0	93.0	91.0					3																	53223092		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2870.1	3p21.31	2009-07-10			ENSG00000163932	ENSG00000163932	2.7.11.1		9399	protein-coding gene	gene with protein product		176977				8188219	Standard	NM_006254		Approved		uc003dgm.3	Q05655	OTTHUMG00000133659	ENST00000394729.2:c.1573T>A	3.37:g.53223092T>A	ENSP00000378217:p.Tyr525Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B0KZ81|B2R834|Q15144|Q86XJ6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Y525N	ENST00000394729.2	37	c.1573	CCDS2870.1	3	.	.	.	.	.	.	.	.	.	.	T	26.6	4.751341	0.89753	.	.	ENSG00000163932	ENST00000394729;ENST00000330452	T;T	0.33438	1.41;1.41	5.48	5.48	0.80851	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65760	0.2722	M	0.93720	3.45	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75596	-0.3263	10	0.87932	D	0	.	14.6756	0.68978	0.0:0.0:0.0:1.0	.	525	Q05655	KPCD_HUMAN	N	525	ENSP00000378217:Y525N;ENSP00000331602:Y525N	ENSP00000331602:Y525N	Y	+	1	0	PRKCD	53198132	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.865000	0.87049	2.297000	0.77311	0.533000	0.62120	TAC	PRKCD	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_cat_dom	ENSG00000163932		0.592	PRKCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCD	HGNC	protein_coding	OTTHUMT00000257818.1	37	0.00	0	T			53223092	53223092	+1	no_errors	ENST00000330452	ensembl	human	known	69_37n	missense	30	36.17	17	SNP	1.000	A
RRBP1	6238	genome.wustl.edu	37	20	17641006	17641006	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr20:17641006C>T	ENST00000377813.1	-	3	450	c.147G>A	c.(145-147)atG>atA	p.M49I	RRBP1_ENST00000377807.2_Missense_Mutation_p.M49I|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000360807.4_Missense_Mutation_p.M49I|RRBP1_ENST00000246043.4_Missense_Mutation_p.M49I			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	49					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GAGTTTTCGCCATCTCCTTGC	0.448																																						dbGAP											0													82.0	67.0	72.0					20																	17641006		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.147G>A	20.37:g.17641006C>T	ENSP00000367044:p.Met49Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.M49I	ENST00000377813.1	37	c.147		20	.	.	.	.	.	.	.	.	.	.	C	17.45	3.391852	0.62066	.	.	ENSG00000125844	ENST00000360807;ENST00000377813;ENST00000377807;ENST00000246043;ENST00000398782	T;T;T;T	0.29142	1.58;2.0;1.58;2.0	4.5	4.5	0.54988	.	0.000000	0.40302	N	0.001132	T	0.25865	0.0630	L	0.44542	1.39	0.80722	D	1	B	0.29552	0.248	B	0.28991	0.097	T	0.06285	-1.0835	10	0.42905	T	0.14	-25.5514	10.6985	0.45913	0.3077:0.6923:0.0:0.0	.	49	Q9P2E9-3	.	I	49	ENSP00000354045:M49I;ENSP00000367044:M49I;ENSP00000367038:M49I;ENSP00000246043:M49I	ENSP00000246043:M49I	M	-	3	0	RRBP1	17589006	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.286000	0.43496	2.234000	0.73211	0.561000	0.74099	ATG	RRBP1	-	pfam_Rib_rcpt_KP	ENSG00000125844		0.448	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	63	0.00	0	C	NM_001042576		17641006	17641006	-1	no_errors	ENST00000246043	ensembl	human	known	69_37n	missense	20	68.25	43	SNP	1.000	T
SETX	23064	genome.wustl.edu	37	9	135172419	135172419	+	Missense_Mutation	SNP	T	T	C			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr9:135172419T>C	ENST00000224140.5	-	14	5986	c.5804A>G	c.(5803-5805)aAt>aGt	p.N1935S	SETX_ENST00000372169.2_Missense_Mutation_p.N1935S|SETX_ENST00000393220.1_Missense_Mutation_p.N1935S	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	1935					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TTGATCTTCATTGAAATCTCT	0.358																																						dbGAP											0													121.0	100.0	107.0					9																	135172419		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.5804A>G	9.37:g.135172419T>C	ENSP00000224140:p.Asn1935Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Missense_Mutation	SNP	NULL	p.N1935S	ENST00000224140.5	37	c.5804	CCDS6947.1	9	.	.	.	.	.	.	.	.	.	.	T	17.20	3.328661	0.60743	.	.	ENSG00000107290	ENST00000224140;ENST00000436441;ENST00000372169;ENST00000393220	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.74	5.74	0.90152	.	0.116093	0.56097	D	0.000027	D	0.94215	0.8143	M	0.93150	3.385	0.48830	D	0.999715	P;D;D	0.89917	0.61;1.0;1.0	B;D;D	0.87578	0.399;0.998;0.996	D	0.95485	0.8564	10	0.87932	D	0	.	14.8499	0.70289	0.0:0.0:0.0:1.0	.	1935;1935;1935	Q7Z333-3;Q7Z333;Q7Z333-4	.;SETX_HUMAN;.	S	1935;177;1935;1935	ENSP00000224140:N1935S;ENSP00000409143:N177S;ENSP00000361242:N1935S;ENSP00000376913:N1935S	ENSP00000224140:N1935S	N	-	2	0	SETX	134162240	1.000000	0.71417	0.988000	0.46212	0.418000	0.31294	5.506000	0.66993	2.189000	0.69895	0.460000	0.39030	AAT	SETX	-	NULL	ENSG00000107290		0.358	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	66	0.00	0	T	NM_015046		135172419	135172419	-1	no_errors	ENST00000372169	ensembl	human	known	69_37n	missense	8	81.82	36	SNP	0.996	C
SPDYE4	388333	genome.wustl.edu	37	17	8660619	8660619	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr17:8660619C>T	ENST00000328794.6	-	2	477	c.301G>A	c.(301-303)Gtg>Atg	p.V101M		NM_001128076.1	NP_001121548.1	A6NLX3	SPDE4_HUMAN	speedy/RINGO cell cycle regulator family member E4	101										breast(1)|endometrium(2)|kidney(1)	4						TCAGGGAGCACGGAGGATGCT	0.567																																						dbGAP											0													51.0	56.0	55.0					17																	8660619		692	1591	2283	-	-	-	SO:0001583	missense	0			BC146949	CCDS45609.1	17p13.1	2013-05-08	2013-05-08			ENSG00000183318		"""Speedy homologs"""	35463	protein-coding gene	gene with protein product			"""speedy homolog E4 (Xenopus laevis)"""				Standard	NM_001128076		Approved		uc010cnz.1	A6NLX3		ENST00000328794.6:c.301G>A	17.37:g.8660619C>T	ENSP00000329522:p.Val101Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUZ6	Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.V101M	ENST00000328794.6	37	c.301	CCDS45609.1	17	.	.	.	.	.	.	.	.	.	.	C	3.096	-0.185789	0.06340	.	.	ENSG00000183318	ENST00000328794	.	.	.	2.14	0.0563	0.14319	.	0.306169	0.22784	N	0.055684	T	0.46908	0.1417	L	0.49455	1.56	0.09310	N	1	D	0.76494	0.999	P	0.62740	0.906	T	0.30621	-0.9972	9	0.72032	D	0.01	.	4.4846	0.11783	0.0:0.6472:0.0:0.3528	.	101	A6NLX3	SPDE4_HUMAN	M	101	.	ENSP00000329522:V101M	V	-	1	0	SPDYE4	8601344	0.128000	0.22383	0.001000	0.08648	0.059000	0.15707	0.166000	0.16583	0.043000	0.15746	-0.444000	0.05651	GTG	SPDYE4	-	NULL	ENSG00000183318		0.567	SPDYE4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYE4	HGNC	protein_coding	OTTHUMT00000442494.1	36	0.00	0	C	NM_001128076		8660619	8660619	-1	no_errors	ENST00000328794	ensembl	human	known	69_37n	missense	21	53.33	24	SNP	0.001	T
SPTBN2	6712	genome.wustl.edu	37	11	66460727	66460727	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr11:66460727C>T	ENST00000533211.1	-	24	5115	c.4784G>A	c.(4783-4785)cGc>cAc	p.R1595H	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R1595H|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R1595H			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1595					actin filament capping (GO:0051693)|adult behavior (GO:0030534)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|cell death (GO:0008219)|cerebellar Purkinje cell layer morphogenesis (GO:0021692)|multicellular organism growth (GO:0035264)|synapse assembly (GO:0007416)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|spectrin (GO:0008091)	actin binding (GO:0003779)|phospholipid binding (GO:0005543)|structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGCGGCATCGCGGTAGAACTG	0.627																																						dbGAP											0													66.0	69.0	68.0					11																	66460727		2200	4295	6495	-	-	-	SO:0001583	missense	0			AB008567, AF026487, AF026488, AF079569	CCDS8150.1	11q13.2	2013-01-10			ENSG00000173898	ENSG00000173898		"""Pleckstrin homology (PH) domain containing"""	11276	protein-coding gene	gene with protein product		604985	"""spinocerebellar ataxia 5"""	SCA5		9826670, 16429157	Standard	NM_006946		Approved		uc001ojd.3	O15020	OTTHUMG00000167262	ENST00000533211.1:c.4784G>A	11.37:g.66460727C>T	ENSP00000432568:p.Arg1595His	Somatic		WXS	Illumina GAIIx	Phase_IV	O14872|O14873	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,prints_PH_dom-spectrin-type	p.R1595H	ENST00000533211.1	37	c.4784	CCDS8150.1	11	.	.	.	.	.	.	.	.	.	.	C	15.94	2.979667	0.53827	.	.	ENSG00000173898	ENST00000533211;ENST00000309996;ENST00000529997	T;T;T	0.54675	0.56;0.56;0.56	4.38	4.38	0.52667	.	0.298967	0.32703	N	0.005755	T	0.32285	0.0824	N	0.17631	0.505	0.21782	N	0.999544	B	0.22983	0.078	B	0.15484	0.013	T	0.08513	-1.0718	10	0.27082	T	0.32	.	7.5862	0.27993	0.1849:0.636:0.1791:0.0	.	1595	O15020	SPTN2_HUMAN	H	1595	ENSP00000432568:R1595H;ENSP00000311489:R1595H;ENSP00000433593:R1595H	ENSP00000311489:R1595H	R	-	2	0	SPTBN2	66217303	0.009000	0.17119	0.958000	0.39756	0.601000	0.36947	0.544000	0.23253	2.268000	0.75426	0.462000	0.41574	CGC	SPTBN2	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000173898		0.627	SPTBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN2	HGNC	protein_coding	OTTHUMT00000393892.2	22	0.00	0	C	NM_006946		66460727	66460727	-1	no_errors	ENST00000309996	ensembl	human	known	69_37n	missense	14	26.32	5	SNP	0.429	T
TMTC2	160335	genome.wustl.edu	37	12	83444707	83444707	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr12:83444707G>A	ENST00000321196.3	+	10	2884	c.2177G>A	c.(2176-2178)cGt>cAt	p.R726H	TMTC2_ENST00000549919.1_Missense_Mutation_p.R720H	NM_152588.1	NP_689801.1	Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	726					calcium ion homeostasis (GO:0055074)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GAAGAAGCTCGTCTCATAGAA	0.383																																						dbGAP											0													90.0	86.0	87.0					12																	83444707		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074634	CCDS9025.1	12q21.31	2014-06-09			ENSG00000179104	ENSG00000179104		"""Tetratricopeptide (TTC) repeat domain containing"""	25440	protein-coding gene	gene with protein product		615856				24764305	Standard	NM_152588		Approved	DKFZp762A217	uc001szt.3	Q8N394	OTTHUMG00000169736	ENST00000321196.3:c.2177G>A	12.37:g.83444707G>A	ENSP00000322300:p.Arg726His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCU7|Q8N2K8	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R726H	ENST00000321196.3	37	c.2177	CCDS9025.1	12	.	.	.	.	.	.	.	.	.	.	G	32	5.146100	0.94603	.	.	ENSG00000179104	ENST00000321196;ENST00000549919;ENST00000546590	T;T	0.64803	-0.12;-0.12	5.94	5.94	0.96194	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	M	0.73217	2.22	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.76250	-0.3028	10	0.41790	T	0.15	-15.763	19.3331	0.94299	0.0:0.0:1.0:0.0	.	726	Q8N394	TMTC2_HUMAN	H	726;720;481	ENSP00000322300:R726H;ENSP00000447609:R720H	ENSP00000322300:R726H	R	+	2	0	TMTC2	81968838	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	9.382000	0.97209	2.817000	0.96982	0.555000	0.69702	CGT	TMTC2	-	pfscan_TPR-contain_dom	ENSG00000179104		0.383	TMTC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC2	HGNC	protein_coding	OTTHUMT00000405663.1	42	0.00	0	G	NM_152588		83444707	83444707	+1	no_errors	ENST00000321196	ensembl	human	known	69_37n	missense	21	57.14	28	SNP	1.000	A
STAB2	55576	genome.wustl.edu	37	12	104100711	104100711	+	Missense_Mutation	SNP	G	G	A			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr12:104100711G>A	ENST00000388887.2	+	38	4342	c.4138G>A	c.(4138-4140)Ggc>Agc	p.G1380S		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGGCTTCAGCGGCACAGCCTG	0.582																																						dbGAP											0													123.0	99.0	107.0					12																	104100711		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4138G>A	12.37:g.104100711G>A	ENSP00000373539:p.Gly1380Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G1380S	ENST00000388887.2	37	c.4138	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868720	0.72065	.	.	ENSG00000136011	ENST00000388887;ENST00000258495	D	0.92595	-3.07	5.5	5.5	0.81552	EGF-like, laminin (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97788	0.9274	H	0.97440	4.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.98951	1.0794	10	0.87932	D	0	.	19.4084	0.94658	0.0:0.0:1.0:0.0	.	1380	Q8WWQ8	STAB2_HUMAN	S	1380;67	ENSP00000373539:G1380S	ENSP00000258495:G67S	G	+	1	0	STAB2	102624841	1.000000	0.71417	0.340000	0.25575	0.078000	0.17371	9.151000	0.94674	2.593000	0.87608	0.655000	0.94253	GGC	STAB2	-	smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom	ENSG00000136011		0.582	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	34	0.00	0	G			104100711	104100711	+1	no_errors	ENST00000388887	ensembl	human	known	69_37n	missense	31	29.55	13	SNP	0.999	A
TP53	7157	genome.wustl.edu	37	17	7579360	7579361	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr17:7579360_7579361insAA	ENST00000269305.4	-	4	515_516	c.326_327insTT	c.(325-327)ttcfs	p.F109fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.F109fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.F109fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.F109fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.F109fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.F109fs|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	109	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.R110fs*18(1)|p.F109F(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGCCCAGACGGAAACCGTAGCT	0.609		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	34	Deletion - Frameshift(8)|Whole gene deletion(8)|Substitution - Missense(8)|Deletion - In frame(5)|Complex - deletion inframe(2)|Insertion - Frameshift(1)|Insertion - In frame(1)|Substitution - coding silent(1)	breast(6)|upper_aerodigestive_tract(5)|large_intestine(5)|stomach(4)|bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|skin(2)|liver(1)|ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.325_326dupTT	17.37:g.7579361_7579362dupAA	ENSP00000269305:p.Phe109fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Ins	INS	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R110fs	ENST00000269305.4	37	c.327_326	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd	ENSG00000141510		0.609	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	20	0.00	0	-	NM_000546		7579360	7579361	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_ins	3	85.71	18	INS	0.864:0.980	AA
VCL	7414	genome.wustl.edu	37	10	75834570	75834570	+	Missense_Mutation	SNP	A	A	G			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr10:75834570A>G	ENST00000211998.4	+	6	786	c.692A>G	c.(691-693)aAt>aGt	p.N231S	VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron|VCL_ENST00000372755.3_Missense_Mutation_p.N231S	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	231	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AAAAATCGCAATTTTACTGTA	0.343																																						dbGAP											0													85.0	91.0	89.0					10																	75834570		2203	4300	6503	-	-	-	SO:0001583	missense	0			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.692A>G	10.37:g.75834570A>G	ENSP00000211998:p.Asn231Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.N231S	ENST00000211998.4	37	c.692	CCDS7341.1	10	.	.	.	.	.	.	.	.	.	.	A	18.06	3.539814	0.65085	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043	T;T	0.46451	0.87;0.87	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	M	0.78637	2.42	0.80722	D	1	B;P	0.50819	0.076;0.939	B;D	0.63113	0.012;0.911	T	0.66814	-0.5828	10	0.52906	T	0.07	.	16.1754	0.81847	1.0:0.0:0.0:0.0	.	231;231	P18206-2;P18206	.;VINC_HUMAN	S	231;231;138;158	ENSP00000361841:N231S;ENSP00000211998:N231S	ENSP00000211998:N231S	N	+	2	0	VCL	75504576	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.965000	0.70387	2.213000	0.71641	0.529000	0.55759	AAT	VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000035403		0.343	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		34	0.00	0	A	NM_003373, NM_014000		75834570	75834570	+1	no_errors	ENST00000211998	ensembl	human	known	69_37n	missense	29	34.09	15	SNP	1.000	G
VN1R4	317703	genome.wustl.edu	37	19	53770069	53770069	+	Missense_Mutation	SNP	C	C	T			TCGA-AR-A24K-01A-11D-A167-09	TCGA-AR-A24K-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	df692383-1d6d-4caa-b44c-7a133ec4b7ee	fb6f3270-79c2-4c04-9b6e-65079c35b944	g.chr19:53770069C>T	ENST00000311170.4	-	1	903	c.850G>A	c.(850-852)Gtt>Att	p.V284I	CTD-2245F17.9_ENST00000599803.1_lincRNA	NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	284					response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	pheromone receptor activity (GO:0016503)			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		CTCATGAGAACAAAGGGGCTG	0.393										HNSCC(26;0.072)																												dbGAP											0													80.0	74.0	76.0					19																	53770069		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY114733	CCDS33099.1	19q13.42	2012-08-22			ENSG00000228567	ENSG00000228567		"""Vomeronasal receptors / Type 1"", ""GPCR / Unclassified : Vomeronasal receptors, type 1"""	19871	protein-coding gene	gene with protein product						12123587	Standard	NM_173857		Approved	V1RL4	uc010ydu.2	Q7Z5H5		ENST00000311170.4:c.850G>A	19.37:g.53770069C>T	ENSP00000310856:p.Val284Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2M3E2|Q7Z5H6|Q7Z5H7|Q8TDU2	Missense_Mutation	SNP	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Vmron_rcpt_1	p.V284I	ENST00000311170.4	37	c.850	CCDS33099.1	19	.	.	.	.	.	.	.	.	.	.	C	0.012	-1.687381	0.00738	.	.	ENSG00000228567	ENST00000311170	T	0.25749	1.78	2.43	-4.86	0.03132	GPCR, rhodopsin-like superfamily (1);	1.285450	0.06047	N	0.655860	T	0.21062	0.0507	L	0.37850	1.14	0.09310	N	1	P	0.40515	0.719	B	0.43478	0.421	T	0.15578	-1.0432	10	0.13470	T	0.59	.	9.7018	0.40192	0.0:0.4964:0.3796:0.124	.	284	Q7Z5H5	VN1R4_HUMAN	I	284	ENSP00000310856:V284I	ENSP00000310856:V284I	V	-	1	0	VN1R4	58461881	0.000000	0.05858	0.000000	0.03702	0.073000	0.16967	-6.542000	0.00062	-3.401000	0.00171	-0.522000	0.04353	GTT	VN1R4	-	pfam_Vmron_rcpt_1,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_supfam,prints_Vmron_rcpt_1	ENSG00000228567		0.393	VN1R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VN1R4	HGNC	protein_coding	OTTHUMT00000464287.1	40	0.00	0	C	NM_173857		53770069	53770069	-1	no_errors	ENST00000311170	ensembl	human	known	69_37n	missense	20	42.86	15	SNP	0.000	T
