#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AARS	16	genome.wustl.edu	37	16	70301613	70301613	+	Missense_Mutation	SNP	G	G	A	rs147580372		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr16:70301613G>A	ENST00000261772.8	-	9	1314	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C	AARS_ENST00000564359.1_5'Flank	NM_001605.2	NP_001596.2			alanyl-tRNA synthetase									p.R391C(1)		breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)		TCCAGGATGCGACGCCCTCTG	0.507											OREG0023913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											130.0	115.0	120.0					16																	70301613		2198	4300	6498	SO:0001583	missense	16			D32050	CCDS32474.1	16q22.1	2014-09-17			ENSG00000090861	ENSG00000090861	6.1.1.7	"""Aminoacyl tRNA synthetases / Class II"""	20	protein-coding gene	gene with protein product	"""alanine tRNA ligase 1, cytoplasmic"""	601065				8595897	Standard	NM_001605		Approved		uc002eyn.1	P49588	OTTHUMG00000177042	ENST00000261772.8:c.1171C>T	16.37:g.70301613G>A	ENSP00000261772:p.Arg391Cys	Somatic	1121	WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,pfscan_Ala-tRNA-synth_IIc_core,prints_Ala-tRNA-lgiase_IIc,tigrfam_Ala-tRNA-lgiase_IIc	p.R391C	ENST00000261772.8	37	c.1171	CCDS32474.1	16	.	.	.	.	.	.	.	.	.	.	G	23.8	4.453757	0.84209	.	.	ENSG00000090861	ENST00000261772	T	0.58940	0.3	5.81	4.84	0.62591	Alanyl-tRNA synthetase, class IIc, anti-codon-binding domain (1);Alanyl-tRNA synthetase, class IIc, core domain (1);Alanyl-tRNA synthetase, class IIc, N-terminal (1);	0.140827	0.64402	D	0.000002	T	0.78470	0.4288	M	0.91561	3.22	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.65140	0.932;0.932	T	0.82713	-0.0321	10	0.72032	D	0.01	-11.3137	13.1603	0.59540	0.0792:0.0:0.9208:0.0	.	399;391	E7ETK8;P49588	.;SYAC_HUMAN	C	391	ENSP00000261772:R391C	ENSP00000261772:R391C	R	-	1	0	AARS	68859114	1.000000	0.71417	0.997000	0.53966	0.834000	0.47266	9.827000	0.99397	2.736000	0.93811	0.655000	0.94253	CGC	AARS	-	pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc		0.507	AARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AARS	HGNC	protein_coding	OTTHUMT00000435021.2	G	NM_001605		70301613	-1	no_errors	ENST00000261772	ensembl	human	known	70_37	missense	SNP	1.000	A
ABCB5	340273	genome.wustl.edu	37	7	20685645	20685645	+	Missense_Mutation	SNP	G	G	T	rs373260063		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr7:20685645G>T	ENST00000404938.2	+	9	1517	c.865G>T	c.(865-867)Gtg>Ttg	p.V289L	ABCB5_ENST00000258738.6_5'Flank|ABCB5_ENST00000406935.1_5'Flank|ABCB5_ENST00000443026.2_5'Flank	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	289	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)	p.V289L(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGCTTCAAAAGTGTCTCTTGG	0.383																																																	1	Substitution - Missense(1)	cervix(1)						G	LEU/VAL	1,3135		0,1,1567	121.0	108.0	112.0		865	1.0	1.0	7		112	0,7164		0,0,3582	no	missense	ABCB5	NM_001163941.1	32	0,1,5149	TT,TG,GG		0.0,0.0319,0.0097	benign	289/1258	20685645	1,10299	1568	3582	5150	SO:0001583	missense	340273			U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.865G>T	7.37:g.20685645G>T	ENSP00000384881:p.Val289Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.V289L	ENST00000404938.2	37	c.865	CCDS55090.1	7	.	.	.	.	.	.	.	.	.	.	G	0.757	-0.770648	0.02974	3.19E-4	0.0	ENSG00000004846	ENST00000404938	D	0.87491	-2.26	4.79	0.978	0.19740	.	.	.	.	.	T	0.62708	0.2450	N	0.02876	-0.465	0.39744	D	0.971788	B	0.02656	0.0	B	0.15052	0.012	T	0.52866	-0.8518	9	0.06494	T	0.89	.	4.6039	0.12366	0.0:0.438:0.3093:0.2528	.	289	A7BKA4	.	L	289	ENSP00000384881:V289L	ENSP00000384881:V289L	V	+	1	0	ABCB5	20652170	0.000000	0.05858	0.998000	0.56505	0.305000	0.27757	-1.468000	0.02350	0.176000	0.19873	-0.128000	0.14901	GTG	ABCB5	-	pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.383	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	ABCB5	HGNC	protein_coding	OTTHUMT00000326736.2	G	NM_178559		20685645	+1	no_errors	ENST00000404938	ensembl	human	putative	70_37	missense	SNP	0.650	T
ABL1	25	genome.wustl.edu	37	9	133753889	133753891	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr9:133753889_133753891delAGA	ENST00000318560.5	+	8	1739_1741	c.1358_1360delAGA	c.(1357-1362)gagaag>gag	p.K454del		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	454	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	GAGCTGCTAGAGAAGGACTACCG	0.507			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	0																																										SO:0001651	inframe_deletion	25			M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.1358_1360delAGA	9.37:g.133753889_133753891delAGA	ENSP00000323315:p.Lys454del	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	In_Frame_Del	DEL	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.K473in_frame_del	ENST00000318560.5	37	c.1415_1417	CCDS35166.1	9																																																																																			ABL1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.507	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	HGNC	protein_coding	OTTHUMT00000054684.1	AGA	NM_007313		133753891	+1	no_errors	ENST00000372348	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-
ADAM30	11085	genome.wustl.edu	37	1	120437902	120437902	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:120437902C>T	ENST00000369400.1	-	1	1216	c.1058G>A	c.(1057-1059)tGc>tAc	p.C353Y		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	353	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C353Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCTACATTGGCAGTATTGTTC	0.438																																																	1	Substitution - Missense(1)	cervix(1)											139.0	131.0	134.0					1																	120437902		2203	4300	6503	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.1058G>A	1.37:g.120437902C>T	ENSP00000358407:p.Cys353Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin	p.C353Y	ENST00000369400.1	37	c.1058	CCDS907.1	1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.347140	0.61183	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	D	0.85088	-1.94	4.88	4.88	0.63580	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.47852	U	0.000216	D	0.93067	0.7793	H	0.95574	3.69	0.21105	N	0.999784	D	0.89917	1.0	D	0.97110	1.0	D	0.87499	0.2432	10	0.87932	D	0	.	13.4215	0.61001	0.0:1.0:0.0:0.0	.	353	Q9UKF2	ADA30_HUMAN	Y	353	ENSP00000358407:C353Y	ENSP00000358407:C353Y	C	-	2	0	ADAM30	120239425	0.984000	0.35163	0.083000	0.20561	0.242000	0.25591	4.616000	0.61197	2.530000	0.85305	0.563000	0.77884	TGC	ADAM30	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.438	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	HGNC	protein_coding	OTTHUMT00000033678.1	C	NM_021794		120437902	-1	no_errors	ENST00000369400	ensembl	human	known	70_37	missense	SNP	0.162	T
ADAMTS14	140766	genome.wustl.edu	37	10	72434400	72434400	+	Silent	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr10:72434400G>A	ENST00000373207.1	+	2	171	c.171G>A	c.(169-171)gtG>gtA	p.V57V	ADAMTS14_ENST00000373208.1_Silent_p.V57V	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	57					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CCCACGTGGTGTCTGGCCCAG	0.617																																																	0													55.0	51.0	53.0					10																	72434400		2203	4300	6503	SO:0001819	synonymous_variant	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.171G>A	10.37:g.72434400G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B	p.V57	ENST00000373207.1	37	c.171	CCDS7306.1	10																																																																																			ADAMTS14	-	pfam_Peptidase_M12B_N		0.617	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAMTS14	HGNC	protein_coding	OTTHUMT00000048522.1	G	NM_080722		72434400	+1	no_errors	ENST00000373208	ensembl	human	known	70_37	silent	SNP	1.000	A
ANKFY1	51479	genome.wustl.edu	37	17	4098307	4098307	+	Silent	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr17:4098307G>A	ENST00000341657.4	-	10	1373	c.1338C>T	c.(1336-1338)cgC>cgT	p.R446R	Y_RNA_ENST00000384660.1_RNA|ANKFY1_ENST00000574367.1_Silent_p.R446R|ANKFY1_ENST00000570535.1_Silent_p.R488R|ANKFY1_ENST00000433651.1_Silent_p.R446R	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	446					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)	p.R446R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TGTGGCTGCCGCGCTGGATGA	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											41.0	46.0	45.0					17																	4098307		2107	4242	6349	SO:0001819	synonymous_variant	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1338C>T	17.37:g.4098307G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.R488	ENST00000341657.4	37	c.1464		17																																																																																			ANKFY1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.572	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	G	NM_016376		4098307	-1	no_errors	ENST00000570535	ensembl	human	known	70_37	silent	SNP	0.066	A
ANXA7	310	genome.wustl.edu	37	10	75135834	75135834	+	3'UTR	DEL	A	A	-			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr10:75135834delA	ENST00000372921.5	-	0	1476					NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7						autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular calcium ion homeostasis (GO:0006874)|cellular water homeostasis (GO:0009992)|epithelial cell differentiation (GO:0030855)|hemostasis (GO:0007599)|membrane fusion (GO:0061025)|negative regulation of gene expression (GO:0010629)|regulation of cell shape (GO:0008360)|response to calcium ion (GO:0051592)|response to organic cyclic compound (GO:0014070)|response to salt stress (GO:0009651)|social behavior (GO:0035176)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|integrin binding (GO:0005178)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					ttttttcattaaaaaaaaaaa	0.408																																																	0													17.0	18.0	18.0					10																	75135834		2195	4277	6472	SO:0001624	3_prime_UTR_variant	310			J04543	CCDS7325.1, CCDS7326.1	10q22.2	2005-11-09			ENSG00000138279	ENSG00000138279		"""Annexins"""	545	protein-coding gene	gene with protein product		186360		ANX7		7515686	Standard	NM_001156		Approved		uc001jtz.2	P20073	OTTHUMG00000018463	ENST00000372921.5:c.*19T>-	10.37:g.75135834delA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5F2H3|Q5T0M6|Q5T0M7	RNA	DEL	-	NULL	ENST00000372921.5	37	NULL	CCDS7325.1	10																																																																																			ANXA7	-	-		0.408	ANXA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA7	HGNC	protein_coding	OTTHUMT00000048646.2	A	NM_001156		75135834	-1	no_errors	ENST00000463788	ensembl	human	known	70_37	rna	DEL	0.003	-
ATL2	64225	genome.wustl.edu	37	2	38537520	38537520	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr2:38537520C>G	ENST00000378954.4	-	8	875	c.874G>C	c.(874-876)Ggt>Cgt	p.G292R	ATL2_ENST00000539122.1_Missense_Mutation_p.G121R|ATL2_ENST00000452935.2_Missense_Mutation_p.G274R|ATL2_ENST00000406122.1_Missense_Mutation_p.G121R|ATL2_ENST00000332337.4_Missense_Mutation_p.G274R|ATL2_ENST00000546051.1_Missense_Mutation_p.G121R|ATL2_ENST00000402054.1_Missense_Mutation_p.G121R|ATL2_ENST00000419554.2_Missense_Mutation_p.G292R	NM_001135673.1|NM_022374.2	NP_001129145.1|NP_071769.2	Q8NHH9	ATLA2_HUMAN	atlastin GTPase 2	292	GB1/RHD3-type G.				endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)	p.G292R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						AGGAAGCAACCAAGATTTGAG	0.393																																																	1	Substitution - Missense(1)	cervix(1)											155.0	138.0	144.0					2																	38537520		2203	4300	6503	SO:0001583	missense	64225				CCDS1795.1, CCDS46260.1	2p22.3	2008-09-17	2008-09-17	2008-09-17	ENSG00000119787	ENSG00000119787			24047	protein-coding gene	gene with protein product		609368	"""ADP-ribosylation factor-like 6 interacting protein 2"""	ARL6IP2		10508919, 18270207	Standard	NM_022374		Approved		uc002rqq.3	Q8NHH9	OTTHUMG00000102074	ENST00000378954.4:c.874G>C	2.37:g.38537520C>G	ENSP00000368237:p.Gly292Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1X2|B7Z7X8|Q4ZG30|Q7Z630|Q8NHH8|Q9H5M7	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.G292R	ENST00000378954.4	37	c.874	CCDS46260.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.02|13.02	2.111099|2.111099	0.37242|0.37242	.|.	.|.	ENSG00000119787|ENSG00000119787	ENST00000378954;ENST00000406122;ENST00000402054;ENST00000539122;ENST00000332337;ENST00000419554;ENST00000452935;ENST00000546051;ENST00000449130|ENST00000443098	T;T;T;T;T;T;T;T;T|T	0.60040|0.62941	0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22;0.22|-0.01	5.26|5.26	3.39|3.39	0.38822|0.38822	Guanylate-binding protein, N-terminal (1);|.	0.245643|.	0.49916|.	D|.	0.000137|.	T|T	0.50922|0.50922	0.1644|0.1644	N|N	0.13235|0.13235	0.315|0.315	0.46631|0.46631	D|D	0.999134|0.999134	P;B;B;B;B|.	0.39624|.	0.681;0.003;0.004;0.033;0.001|.	P;B;B;B;B|.	0.51777|.	0.679;0.009;0.008;0.033;0.014|.	T|T	0.55698|0.55698	-0.8100|-0.8100	10|7	0.27785|0.72032	T|D	0.31|0.01	-5.1006|-5.1006	10.1564|10.1564	0.42825|0.42825	0.0:0.7886:0.1355:0.0758|0.0:0.7886:0.1355:0.0758	.|.	121;274;274;292;292|.	B5MCN0;B7Z7X8;Q8NHH9-4;Q8NHH9-2;Q8NHH9|.	.;.;.;.;ATLA2_HUMAN|.	R|F	292;121;121;121;274;292;274;121;110|210	ENSP00000368237:G292R;ENSP00000385446:G121R;ENSP00000384062:G121R;ENSP00000446192:G121R;ENSP00000333393:G274R;ENSP00000415336:G292R;ENSP00000390743:G274R;ENSP00000438938:G121R;ENSP00000409811:G110R|ENSP00000410592:L210F	ENSP00000333393:G274R|ENSP00000410592:L210F	G|L	-|-	1|3	0|2	ATL2|ATL2	38391024|38391024	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	2.264000|2.264000	0.43302|0.43302	1.166000|1.166000	0.42689|0.42689	0.557000|0.557000	0.71058|0.71058	GGT|TTG	ATL2	-	pfam_Guanylate-bd_N		0.393	ATL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATL2	HGNC	protein_coding	OTTHUMT00000219886.2	C	NM_022374		38537520	-1	no_errors	ENST00000378954	ensembl	human	known	70_37	missense	SNP	0.999	G
BAIAP3	8938	genome.wustl.edu	37	16	1397928	1397928	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr16:1397928G>A	ENST00000324385.5	+	32	3322	c.3164G>A	c.(3163-3165)gGc>gAc	p.G1055D	BAIAP3_ENST00000397488.2_Missense_Mutation_p.G1037D|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G997D|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G1037D|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G992D|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G1020D|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G984D	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1055	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)	p.G1055D(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GTGGAGCTGGGCCCACCGCAT	0.627																																																	1	Substitution - Missense(1)	cervix(1)											54.0	59.0	57.0					16																	1397928		2198	4298	6496	SO:0001583	missense	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.3164G>A	16.37:g.1397928G>A	ENSP00000324510:p.Gly1055Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.G1055D	ENST00000324385.5	37	c.3164	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791901	0.70452	.	.	ENSG00000007516	ENST00000426824;ENST00000397488;ENST00000324385;ENST00000397489;ENST00000421665	T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41	5.01	5.01	0.66863	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.059283	0.64402	D	0.000002	T	0.70727	0.3257	N	0.25094	0.71	0.48236	D	0.999611	D;D;D;D	0.76494	0.999;0.998;0.999;0.999	P;D;D;D	0.73380	0.791;0.965;0.98;0.944	T	0.71852	-0.4467	10	0.41790	T	0.15	-42.3802	15.806	0.78513	0.0:0.0:1.0:0.0	.	984;997;1055;1037	E7EUB9;B4DIK3;O94812;A2A2B2	.;.;BAIP3_HUMAN;.	D	1020;1037;1055;1037;984	ENSP00000407242:G1020D;ENSP00000380625:G1037D;ENSP00000324510:G1055D;ENSP00000380626:G1037D;ENSP00000409533:G984D	ENSP00000324510:G1055D	G	+	2	0	BAIAP3	1337929	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.655000	0.61476	2.327000	0.79052	0.561000	0.74099	GGC	BAIAP3	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.627	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	G			1397928	+1	no_errors	ENST00000324385	ensembl	human	known	70_37	missense	SNP	1.000	A
BRAF	673	genome.wustl.edu	37	7	140482933	140482933	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr7:140482933G>A	ENST00000288602.6	-	10	1262	c.1202C>T	c.(1201-1203)aCc>aTc	p.T401I		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	401					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.T401I(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	GGCAGGGGGGGTAGCAGACAA	0.438		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	1	Substitution - Missense(1)	cervix(1)											56.0	54.0	55.0					7																	140482933		2203	4300	6503	SO:0001583	missense	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1202C>T	7.37:g.140482933G>A	ENSP00000288602:p.Thr401Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.T401I	ENST00000288602.6	37	c.1202	CCDS5863.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.17|19.17	3.776073|3.776073	0.70107|0.70107	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|T	.|0.76060	.|-0.99	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70245|0.70245	0.3202|0.3202	L|L	0.44542|0.44542	1.39|1.39	0.80722|0.80722	D|D	1|1	.|B	.|0.25272	.|0.122	.|B	.|0.19666	.|0.026	T|T	0.64639|0.64639	-0.6360|-0.6360	5|10	.|0.41790	.|T	.|0.15	.|.	20.1047|20.1047	0.97888|0.97888	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|401	.|P15056	.|BRAF_HUMAN	S|I	9|401	.|ENSP00000288602:T401I	.|ENSP00000288602:T401I	P|T	-|-	1|2	0|0	BRAF|BRAF	140129402|140129402	1.000000|1.000000	0.71417|0.71417	0.989000|0.989000	0.46669|0.46669	0.975000|0.975000	0.68041|0.68041	9.230000|9.230000	0.95299|0.95299	2.762000|2.762000	0.94881|0.94881	0.655000|0.655000	0.94253|0.94253	CCC|ACC	BRAF	-	NULL		0.438	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRAF	HGNC	protein_coding	OTTHUMT00000348886.1	G	NM_004333		140482933	-1	no_errors	ENST00000288602	ensembl	human	known	70_37	missense	SNP	1.000	A
BRD4	23476	genome.wustl.edu	37	19	15355409	15355409	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr19:15355409G>C	ENST00000263377.2	-	13	2435	c.2214C>G	c.(2212-2214)caC>caG	p.H738Q		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	738	Poly-His.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.H738Q(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GGTGATGATGGTGCTGcagac	0.667			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	1	Substitution - Missense(1)	cervix(1)											66.0	63.0	64.0					19																	15355409		2203	4300	6503	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.2214C>G	19.37:g.15355409G>C	ENSP00000263377:p.His738Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.H738Q	ENST00000263377.2	37	c.2214	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	G	8.367	0.834342	0.16820	.	.	ENSG00000141867	ENST00000263377	T	0.44482	0.92	3.55	1.36	0.22044	.	0.000000	0.49305	D	0.000142	T	0.44393	0.1291	L	0.43152	1.355	0.80722	D	1	P	0.44006	0.824	P	0.60886	0.88	T	0.33854	-0.9852	10	0.16896	T	0.51	-19.8098	5.255	0.15542	0.4042:0.0:0.5958:0.0	.	738	O60885	BRD4_HUMAN	Q	738	ENSP00000263377:H738Q	ENSP00000263377:H738Q	H	-	3	2	BRD4	15216409	0.998000	0.40836	0.997000	0.53966	0.898000	0.52572	0.191000	0.17076	0.197000	0.20387	0.556000	0.70494	CAC	BRD4	-	NULL		0.667	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	G	NM_058243		15355409	-1	no_errors	ENST00000263377	ensembl	human	known	70_37	missense	SNP	0.999	C
C6	729	genome.wustl.edu	37	5	41176763	41176763	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr5:41176763T>A	ENST00000263413.3	-	8	1246	c.982A>T	c.(982-984)Aaa>Taa	p.K328*	C6_ENST00000337836.5_Nonsense_Mutation_p.K328*|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	328	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)		p.K328*(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TCTTTAGCTTTCGTTGTGAAG	0.338																																																	1	Substitution - Nonsense(1)	cervix(1)											110.0	111.0	111.0					5																	41176763		2203	4300	6503	SO:0001587	stop_gained	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.982A>T	5.37:g.41176763T>A	ENSP00000263413:p.Lys328*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.K328*	ENST00000263413.3	37	c.982	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	T	39	7.501667	0.98322	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	.	.	.	5.65	4.46	0.54185	.	0.129499	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-25.1848	12.9021	0.58130	0.0:0.0:0.1357:0.8643	.	.	.	.	X	328	.	ENSP00000263413:K328X	K	-	1	0	C6	41212520	1.000000	0.71417	0.998000	0.56505	0.772000	0.43724	5.518000	0.67068	1.118000	0.41863	0.533000	0.62120	AAA	C6	-	pfam_MACPF,smart_MACPF		0.338	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	T			41176763	-1	no_errors	ENST00000263413	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CES5A	221223	genome.wustl.edu	37	16	55886941	55886941	+	Splice_Site	SNP	C	C	T			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr16:55886941C>T	ENST00000290567.9	-	10	1247		c.e10-1		CES5A_ENST00000541580.1_Splice_Site|CES5A_ENST00000319165.9_Splice_Site|CES5A_ENST00000521992.1_Splice_Site|CES5A_ENST00000518005.1_Splice_Site|CES5A_ENST00000520435.1_Splice_Site	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A							extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.?(2)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GCGGGATGTGCTGTAAAAATA	0.463																																																	2	Unknown(2)	cervix(2)											96.0	90.0	92.0					16																	55886941		2198	4300	6498	SO:0001630	splice_region_variant	221223			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1126-1G>A	16.37:g.55886941C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Splice_Site	SNP	-	e11-1	ENST00000290567.9	37	c.1213-1	CCDS45490.1	16	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849056	0.32699	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	.	.	.	5.21	4.25	0.50352	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9738	0.53078	0.0:0.9128:0.0:0.0872	.	.	.	.	.	-1	.	.	.	-	.	.	CES5A	54444442	0.982000	0.34865	0.621000	0.29145	0.014000	0.08584	2.775000	0.47702	2.446000	0.82766	0.449000	0.29647	.	CES5A	-	-		0.463	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES5A	HGNC	protein_coding	OTTHUMT00000256975.3	C	NM_145024	Intron	55886941	-1	no_errors	ENST00000521992	ensembl	human	known	70_37	splice_site	SNP	0.631	T
CLTCL1	8218	genome.wustl.edu	37	22	19221125	19221125	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr22:19221125C>A	ENST00000263200.10	-	8	1260	c.1188G>T	c.(1186-1188)gaG>gaT	p.E396D	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E396D|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E396D	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	396	Globular terminal domain.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.E396D(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCTGGACCGTCTCTCTGGTAC	0.458			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	1	Substitution - Missense(1)	cervix(1)											53.0	55.0	54.0					22																	19221125		1845	4098	5943	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1188G>T	22.37:g.19221125C>A	ENSP00000445677:p.Glu396Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.E396D	ENST00000263200.10	37	c.1188	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.883613	0.00532	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.48522	0.81;0.81;0.81	3.61	2.57	0.30868	Armadillo-type fold (1);	0.135887	0.48767	N	0.000175	T	0.14830	0.0358	N	0.02842	-0.48	0.32084	N	0.5928	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.14868	-1.0457	10	0.06494	T	0.89	-13.3303	1.3323	0.02137	0.1518:0.2294:0.4106:0.2081	.	396;396	P53675-2;P53675	.;CLH2_HUMAN	D	396	ENSP00000439662:E396D;ENSP00000445677:E396D;ENSP00000441158:E396D	ENSP00000445677:E396D	E	-	3	2	CLTCL1	17601125	0.995000	0.38212	0.829000	0.32907	0.019000	0.09904	0.221000	0.17680	0.842000	0.35045	-0.340000	0.08031	GAG	CLTCL1	-	superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain		0.458	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	C	NM_007098		19221125	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	missense	SNP	1.000	A
CPAMD8	27151	genome.wustl.edu	37	19	17108023	17108023	+	Silent	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr19:17108023G>A	ENST00000443236.1	-	11	1165	c.1134C>T	c.(1132-1134)gtC>gtT	p.V378V	CPAMD8_ENST00000388925.4_Silent_p.V331V	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	331						extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.V378V(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CATCGAACGCGACCTGCTGGC	0.647																																																	1	Substitution - coding silent(1)	cervix(1)											32.0	33.0	33.0					19																	17108023		1931	4087	6018	SO:0001819	synonymous_variant	27151			AY101765	CCDS42519.1	19p13.12	2008-02-05			ENSG00000160111	ENSG00000160111			23228	protein-coding gene	gene with protein product		608841				10574462	Standard	NM_015692		Approved	KIAA1283, VIP, K-CAP	uc002nfb.3	Q8IZJ3	OTTHUMG00000133549	ENST00000443236.1:c.1134C>T	19.37:g.17108023G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC09|Q9ULD7	Silent	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Prot_inh_Kazal	p.V378	ENST00000443236.1	37	c.1134	CCDS42519.1	19	.	.	.	.	.	.	.	.	.	.	g	0.240	-1.014083	0.02095	.	.	ENSG00000160111	ENST00000443236	.	.	.	3.0	-5.0	0.03001	.	.	.	.	.	T	0.50514	0.1620	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53556	-0.8422	4	.	.	.	.	8.302	0.32019	0.2147:0.3008:0.4845:0.0	.	.	.	.	L	389	.	.	S	-	2	0	CPAMD8	16969023	0.969000	0.33509	0.429000	0.26710	0.007000	0.05969	-0.047000	0.11963	-0.389000	0.07786	-2.587000	0.00166	TCG	CPAMD8	-	NULL		0.647	CPAMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPAMD8	HGNC	protein_coding	OTTHUMT00000257531.2	G	NM_015692		17108023	-1	no_errors	ENST00000443236	ensembl	human	known	70_37	silent	SNP	0.999	A
CREBBP	1387	genome.wustl.edu	37	16	3786138	3786138	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr16:3786138C>G	ENST00000262367.5	-	28	5436	c.4627G>C	c.(4627-4629)Gat>Cat	p.D1543H	CREBBP_ENST00000382070.3_Missense_Mutation_p.D1505H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1543	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Interaction with TRERF1.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.D1543H(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGCCAGAAATCACCTTCAAAA	0.463			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	cervix(1)	GRCh37	CM065107	CREBBP	M							250.0	204.0	220.0					16																	3786138		2197	4300	6497	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4627G>C	16.37:g.3786138C>G	ENSP00000262367:p.Asp1543His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.D1543H	ENST00000262367.5	37	c.4627	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	c	19.87	3.907032	0.72868	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.98249	-4.82;-4.82	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.99315	0.9760	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98863	1.0763	10	0.87932	D	0	-21.1644	18.4344	0.90640	0.0:1.0:0.0:0.0	.	1573;1543	Q4LE28;Q92793	.;CBP_HUMAN	H	1543;1573;1505;132	ENSP00000262367:D1543H;ENSP00000371502:D1505H	ENSP00000262367:D1543H	D	-	1	0	CREBBP	3726139	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.755000	0.85180	2.662000	0.90505	0.555000	0.69702	GAT	CREBBP	-	pfam_Histone_H3-K56_AcTrfase_RTT109		0.463	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	C	NM_004380		3786138	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	missense	SNP	1.000	G
CTNNA3	29119	genome.wustl.edu	37	10	68979626	68979626	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr10:68979626G>T	ENST00000433211.2	-	6	756	c.582C>A	c.(580-582)gaC>gaA	p.D194E	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D194E|CTNNA3_ENST00000545309.1_Missense_Mutation_p.D194E	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.D194E(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GAGATTTTAAGTCCTGAGAAG	0.363																																																	2	Substitution - Missense(2)	cervix(2)											57.0	61.0	60.0					10																	68979626		2203	4300	6503	SO:0001583	missense	29119			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.582C>A	10.37:g.68979626G>T	ENSP00000389714:p.Asp194Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.D194E	ENST00000433211.2	37	c.582	CCDS7269.1	10	.	.	.	.	.	.	.	.	.	.	G	9.867	1.198022	0.22037	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000545309	T;T;T	0.26660	1.72;1.72;1.72	5.33	2.49	0.30216	.	0.000000	0.51477	D	0.000087	T	0.17152	0.0412	N	0.25332	0.735	0.32388	N	0.553673	P;P;P;B	0.42735	0.788;0.788;0.498;0.163	P;P;B;B	0.47470	0.548;0.548;0.318;0.165	T	0.19063	-1.0317	10	0.09338	T	0.73	-13.2817	4.0008	0.09579	0.3334:0.0:0.5104:0.1562	.	194;194;194;194	A8K141;F2Z2R0;Q9UI47-2;Q9UI47	.;.;.;CTNA3_HUMAN	E	194	ENSP00000389714:D194E;ENSP00000362849:D194E;ENSP00000441444:D194E	ENSP00000362849:D194E	D	-	3	2	CTNNA3	68649632	1.000000	0.71417	0.999000	0.59377	0.908000	0.53690	1.602000	0.36783	0.256000	0.21614	-0.229000	0.12294	GAC	CTNNA3	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.363	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA3	HGNC	protein_coding	OTTHUMT00000048282.2	G	NM_013266		68979626	-1	no_errors	ENST00000373744	ensembl	human	known	70_37	missense	SNP	0.997	T
CXorf22	170063	genome.wustl.edu	37	X	35974251	35974251	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chrX:35974251A>G	ENST00000297866.5	+	8	1414	c.1348A>G	c.(1348-1350)Aaa>Gaa	p.K450E		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	450								p.K450E(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GTACCACTTTAAAAAAACTGC	0.358																																																	2	Substitution - Missense(2)	cervix(2)											55.0	52.0	53.0					X																	35974251		2202	4300	6502	SO:0001583	missense	170063			BC027936	CCDS14237.2	Xp21.1	2014-08-07			ENSG00000165164	ENSG00000165164			28546	protein-coding gene	gene with protein product						12477932	Standard	NM_152632		Approved	MGC34831	uc004ddj.3	Q6ZTR5	OTTHUMG00000021350	ENST00000297866.5:c.1348A>G	X.37:g.35974251A>G	ENSP00000297866:p.Lys450Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JRM8|Q8N6X8	Missense_Mutation	SNP	superfamily_PapD-like	p.K450E	ENST00000297866.5	37	c.1348	CCDS14237.2	X	.	.	.	.	.	.	.	.	.	.	A	0.109	-1.141361	0.01728	.	.	ENSG00000165164	ENST00000297866	T	0.54279	0.58	5.2	-10.4	0.00318	.	0.906122	0.09570	N	0.784296	T	0.24005	0.0581	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.14309	-1.0477	10	0.02654	T	1	-25.5355	8.2496	0.31708	0.2985:0.5151:0.1263:0.06	.	450	Q6ZTR5	CX022_HUMAN	E	450	ENSP00000297866:K450E	ENSP00000297866:K450E	K	+	1	0	CXorf22	35884172	0.080000	0.21391	0.000000	0.03702	0.000000	0.00434	0.166000	0.16583	-4.360000	0.00054	-2.349000	0.00243	AAA	CXorf22	-	NULL		0.358	CXorf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf22	HGNC	protein_coding	OTTHUMT00000056216.2	A	NM_152632		35974251	+1	no_errors	ENST00000297866	ensembl	human	known	70_37	missense	SNP	0.000	G
ERBB4	2066	genome.wustl.edu	37	2	212248574	212248574	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr2:212248574C>G	ENST00000342788.4	-	28	4003	c.3693G>C	c.(3691-3693)gaG>gaC	p.E1231D	ERBB4_ENST00000402597.1_Missense_Mutation_p.E1221D|ERBB4_ENST00000436443.1_Missense_Mutation_p.E1215D	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1231					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E1231D(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TCTTGGCCTTCTCTGGCATTG	0.517										TSP Lung(8;0.080)																																							1	Substitution - Missense(1)	cervix(1)											253.0	234.0	240.0					2																	212248574		2203	4300	6503	SO:0001583	missense	2066			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3693G>C	2.37:g.212248574C>G	ENSP00000342235:p.Glu1231Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1231D	ENST00000342788.4	37	c.3693	CCDS2394.1	2	.	.	.	.	.	.	.	.	.	.	C	13.20	2.166046	0.38217	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	T;T;T	0.75050	-0.89;-0.9;-0.89	5.11	5.11	0.69529	.	0.060287	0.64402	D	0.000004	T	0.59018	0.2163	N	0.12182	0.205	0.58432	D	0.999994	B;B;B;B	0.32467	0.372;0.003;0.372;0.255	B;B;B;B	0.33392	0.163;0.005;0.163;0.104	T	0.56318	-0.7999	10	0.14252	T	0.57	.	19.09	0.93223	0.0:1.0:0.0:0.0	.	1205;1221;1215;1231	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	D	1231;1215;1221	ENSP00000342235:E1231D;ENSP00000403204:E1215D;ENSP00000385565:E1221D	ENSP00000342235:E1231D	E	-	3	2	ERBB4	211956819	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	2.649000	0.46656	2.812000	0.96745	0.557000	0.71058	GAG	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.517	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1	C	NM_001042599		212248574	-1	no_errors	ENST00000342788	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM199X	139231	genome.wustl.edu	37	X	103430825	103430825	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chrX:103430825C>G	ENST00000493442.1	+	3	662	c.496C>G	c.(496-498)Ctt>Gtt	p.L166V	FAM199X_ENST00000299906.5_3'UTR	NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	166								p.L166V(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						ACCTTGCCTGCTTCCTAAAAA	0.398																																																	1	Substitution - Missense(1)	cervix(1)											124.0	114.0	117.0					X																	103430825		2203	4300	6503	SO:0001583	missense	139231			BC016683	CCDS35364.1	Xq22	2010-02-11	2010-02-11	2010-02-11	ENSG00000123575	ENSG00000123575			25195	protein-coding gene	gene with protein product			"""chromosome X open reading frame 39"""	CXorf39			Standard	NM_207318		Approved		uc004elw.3	Q6PEV8	OTTHUMG00000022126	ENST00000493442.1:c.496C>G	X.37:g.103430825C>G	ENSP00000417581:p.Leu166Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WVP6|Q96AV3	Missense_Mutation	SNP	NULL	p.L166V	ENST00000493442.1	37	c.496	CCDS35364.1	X	.	.	.	.	.	.	.	.	.	.	C	8.136	0.784210	0.16189	.	.	ENSG00000123575	ENST00000493442	.	.	.	5.07	4.18	0.49190	.	0.293026	0.38959	N	0.001507	T	0.28896	0.0717	N	0.12182	0.205	0.29569	N	0.850029	B	0.02656	0.0	B	0.01281	0.0	T	0.11717	-1.0576	8	.	.	.	-4.3971	13.7177	0.62708	0.0:0.8485:0.1515:0.0	.	166	Q6PEV8	F199X_HUMAN	V	166	.	.	L	+	1	0	FAM199X	103317481	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	2.189000	0.42621	0.993000	0.38866	0.600000	0.82982	CTT	FAM199X	-	NULL		0.398	FAM199X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM199X	HGNC	protein_coding	OTTHUMT00000057764.1	C	NM_207318		103430825	+1	no_errors	ENST00000493442	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM71A	149647	genome.wustl.edu	37	1	212798889	212798889	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:212798889C>T	ENST00000294829.3	+	1	1101	c.670C>T	c.(670-672)Ctc>Ttc	p.L224F	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	224						nucleus (GO:0005634)		p.L224F(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CATCCAAAGCCTCCACATGGT	0.537																																																	1	Substitution - Missense(1)	cervix(1)											79.0	79.0	79.0					1																	212798889		2203	4300	6503	SO:0001583	missense	149647				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.670C>T	1.37:g.212798889C>T	ENSP00000294829:p.Leu224Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VTZ1	Missense_Mutation	SNP	pfam_DUF3699	p.L224F	ENST00000294829.3	37	c.670	CCDS1507.1	1	.	.	.	.	.	.	.	.	.	.	C	14.36	2.512887	0.44660	.	.	ENSG00000162771	ENST00000294829	T	0.05649	3.41	4.12	3.21	0.36854	.	0.212765	0.23702	N	0.045419	T	0.04634	0.0126	L	0.36672	1.1	0.34044	D	0.655382	P	0.42584	0.784	B	0.33454	0.164	T	0.36187	-0.9758	10	0.54805	T	0.06	-10.9614	7.7083	0.28663	0.0:0.8856:0.0:0.1144	.	224	Q8IYT1	FA71A_HUMAN	F	224	ENSP00000294829:L224F	ENSP00000294829:L224F	L	+	1	0	FAM71A	210865512	0.413000	0.25400	0.994000	0.49952	0.903000	0.53119	0.167000	0.16602	1.096000	0.41439	0.563000	0.77884	CTC	FAM71A	-	NULL		0.537	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1	C	NM_153606		212798889	+1	no_errors	ENST00000294829	ensembl	human	known	70_37	missense	SNP	0.995	T
FBXO45	200933	genome.wustl.edu	37	3	196304665	196304665	+	Silent	SNP	C	C	T	rs573601854	byFrequency	TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr3:196304665C>T	ENST00000311630.6	+	2	957	c.660C>T	c.(658-660)aaC>aaT	p.N220N	FBXO45_ENST00000440469.1_Silent_p.N41N	NM_001105573.1	NP_001099043.1	P0C2W1	FBSP1_HUMAN	F-box protein 45	220	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				anterior commissure morphogenesis (GO:0021960)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|corticospinal tract morphogenesis (GO:0021957)|neuron migration (GO:0001764)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|synapse assembly involved in innervation (GO:0060386)	cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.N220N(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	7	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;2.75e-23)|all cancers(36;2.47e-21)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AGTGCAACAACGCACCAAAAT	0.403													C|||	2	0.000399361	0.0	0.0	5008	,	,		15429	0.001		0.0	False		,,,				2504	0.001																1	Substitution - coding silent(1)	cervix(1)											51.0	50.0	50.0					3																	196304665		1917	4126	6043	SO:0001819	synonymous_variant	200933			AK025697	CCDS46985.1	3q29	2008-02-05			ENSG00000174013	ENSG00000174013		"""F-boxes /  ""other"""""	29148	protein-coding gene	gene with protein product		609112					Standard	NM_001105573		Approved	Fbx45	uc010iai.3	P0C2W1	OTTHUMG00000155571	ENST00000311630.6:c.660C>T	3.37:g.196304665C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF90|D3DXB5	Silent	SNP	pfam_SPRY_rcpt,pfam_F-box_dom_cyclin-like,superfamily_ConA-like_lec_gl_sf,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_F-box_dom_cyclin-like	p.N220	ENST00000311630.6	37	c.660	CCDS46985.1	3																																																																																			FBXO45	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.403	FBXO45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO45	HGNC	protein_coding	OTTHUMT00000340687.2	C			196304665	+1	no_errors	ENST00000311630	ensembl	human	known	70_37	silent	SNP	1.000	T
FCRL1	115350	genome.wustl.edu	37	1	157773703	157773703	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:157773703T>C	ENST00000368176.3	-	3	318	c.251A>G	c.(250-252)tAc>tGc	p.Y84C	FCRL1_ENST00000491942.1_Missense_Mutation_p.Y84C|FCRL1_ENST00000358292.3_Missense_Mutation_p.Y84C|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	84	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.Y84C(2)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CTCGCACCAGTATGACCCTGT	0.562																																					GBM(54;482 1003 11223 30131 35730)												2	Substitution - Missense(2)	cervix(2)											113.0	102.0	106.0					1																	157773703		2203	4300	6503	SO:0001583	missense	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.251A>G	1.37:g.157773703T>C	ENSP00000357158:p.Tyr84Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Y84C	ENST00000368176.3	37	c.251	CCDS1170.1	1	.	.	.	.	.	.	.	.	.	.	T	12.93	2.086443	0.36855	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.54071	0.59;0.59;0.59	4.55	4.55	0.56014	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.461061	0.18510	N	0.139085	T	0.71584	0.3357	M	0.93978	3.48	0.32730	N	0.509054	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.77169	-0.2686	10	0.87932	D	0	.	10.4585	0.44565	0.0:0.0:0.0:1.0	.	84;84;84	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	C	84	ENSP00000351039:Y84C;ENSP00000357158:Y84C;ENSP00000418130:Y84C	ENSP00000351039:Y84C	Y	-	2	0	FCRL1	156040327	0.996000	0.38824	0.980000	0.43619	0.027000	0.11550	3.605000	0.54088	2.053000	0.61076	0.533000	0.62120	TAC	FCRL1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.562	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	T	NM_052938		157773703	-1	no_errors	ENST00000368176	ensembl	human	known	70_37	missense	SNP	0.993	C
LOC400867	400867	genome.wustl.edu	37	21	40250361	40250362	+	lincRNA	INS	-	-	AA	rs200093010|rs11464500|rs34143374|rs528877348|rs34182167	byFrequency	TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr21:40250361_40250362insAA	ENST00000380931.2	-	0	2675_2676																											ttttgaaaatTAAAAAAAAAAA	0.282														621	0.124002	0.177	0.1066	5008	,	,		19367	0.0685		0.0885	False		,,,				2504	0.1585																0																																												0																															21.37:g.40250370_40250371dupAA		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000380931.2	37	NULL		21																																																																																			AF064858.6	-	-		0.282	AF064858.6-001	KNOWN	basic	lincRNA	FLJ45139	Clone_based_vega_gene	lincRNA	OTTHUMT00000141410.2	-			40250362	-1	no_errors	ENST00000380931	ensembl	human	known	70_37	rna	INS	0.011:0.001	AA
FRAS1	80144	genome.wustl.edu	37	4	79373445	79373445	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr4:79373445G>A	ENST00000264895.6	+	47	7140	c.6700G>A	c.(6700-6702)Gaa>Aaa	p.E2234K		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2234					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.E2234K(1)|p.E2235K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGGCCTACAGAATTGATCTA	0.473																																																	2	Substitution - Missense(2)	cervix(2)											61.0	62.0	62.0					4																	79373445		1968	4151	6119	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6700G>A	4.37:g.79373445G>A	ENSP00000264895:p.Glu2234Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.E2234K	ENST00000264895.6	37	c.6700	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.215|8.215	0.801175|0.801175	0.16397|0.16397	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	T|.	0.34859|.	1.34|.	5.84|5.84	4.09|4.09	0.47781|0.47781	.|.	0.462816|.	0.23690|.	N|.	0.045522|.	T|T	0.46521|0.46521	0.1397|0.1397	L|L	0.45422|0.45422	1.42|1.42	0.30732|0.30732	N|N	0.747077|0.747077	B|.	0.09022|.	0.002|.	B|.	0.04013|.	0.001|.	T|T	0.49244|0.49244	-0.8960|-0.8960	10|5	0.54805|.	T|.	0.06|.	.|.	10.9131|10.9131	0.47120|0.47120	0.0696:0.262:0.6684:0.0|0.0696:0.262:0.6684:0.0	.|.	2234|.	E9PHH6|.	.|.	K|K	2234|462	ENSP00000264895:E2234K|.	ENSP00000264895:E2234K|.	E|R	+|+	1|2	0|0	FRAS1|FRAS1	79592469|79592469	0.988000|0.988000	0.35896|0.35896	0.012000|0.012000	0.15200|0.15200	0.018000|0.018000	0.09664|0.09664	3.720000|3.720000	0.54933|0.54933	1.435000|1.435000	0.47434|0.47434	0.655000|0.655000	0.94253|0.94253	GAA|AGA	FRAS1	-	superfamily_Cadherin-like		0.473	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		G			79373445	+1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	0.115	A
GBP4	115361	genome.wustl.edu	37	1	89659022	89659022	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:89659022A>G	ENST00000355754.6	-	4	534	c.437T>C	c.(436-438)gTg>gCg	p.V146A		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	146	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V146A(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GATGGTGCTCACGCTGTTATA	0.473																																																	1	Substitution - Missense(1)	cervix(1)											126.0	119.0	121.0					1																	89659022		2203	4300	6503	SO:0001583	missense	115361			AF288814	CCDS721.1	1p22.2	2008-02-05			ENSG00000162654	ENSG00000162654			20480	protein-coding gene	gene with protein product		612466				16689661	Standard	NM_052941		Approved	Mpa2	uc001dnb.3	Q96PP9	OTTHUMG00000010663	ENST00000355754.6:c.437T>C	1.37:g.89659022A>G	ENSP00000359490:p.Val146Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R630|Q05D63|Q6NSL0|Q86T99	Missense_Mutation	SNP	pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C	p.V146A	ENST00000355754.6	37	c.437	CCDS721.1	1	.	.	.	.	.	.	.	.	.	.	A	14.03	2.414311	0.42817	.	.	ENSG00000162654	ENST00000355754	T	0.60920	0.15	4.93	4.93	0.64822	Guanylate-binding protein, N-terminal (1);	0.440492	0.26119	N	0.026233	T	0.33498	0.0865	L	0.39566	1.225	0.09310	N	1	B	0.14012	0.009	B	0.23150	0.044	T	0.30149	-0.9988	10	0.62326	D	0.03	.	12.826	0.57721	1.0:0.0:0.0:0.0	.	146	Q96PP9	GBP4_HUMAN	A	146	ENSP00000359490:V146A	ENSP00000359490:V146A	V	-	2	0	GBP4	89431610	0.010000	0.17322	0.088000	0.20740	0.895000	0.52256	1.422000	0.34826	2.192000	0.70111	0.533000	0.62120	GTG	GBP4	-	pfam_Guanylate-bd_N		0.473	GBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP4	HGNC	protein_coding	OTTHUMT00000029409.1	A	NM_052941		89659022	-1	no_errors	ENST00000355754	ensembl	human	known	70_37	missense	SNP	0.164	G
GBP1P1	400759	genome.wustl.edu	37	1	89875908	89875908	+	RNA	SNP	A	A	G			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:89875908A>G	ENST00000513638.1	+	0	130					NR_003133.2				guanylate binding protein 1, interferon-inducible pseudogene 1																		GACAGGCCCAATGTGCCTCAT	0.478																																																	0																																												400759					1p22.2	2011-03-09			ENSG00000225492	ENSG00000225492			39561	pseudogene	pseudogene							Standard	NR_003133		Approved		uc009wcy.1		OTTHUMG00000010128		1.37:g.89875908A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000513638.1	37	NULL		1																																																																																			GBP1P1	-	-		0.478	GBP1P1-002	KNOWN	basic	processed_transcript	GBP1P1	HGNC	pseudogene	OTTHUMT00000360073.1	A	NR_003133		89875908	+1	no_errors	ENST00000513638	ensembl	human	known	70_37	rna	SNP	0.314	G
GJA5	2702	genome.wustl.edu	37	1	147230802	147230802	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:147230802A>C	ENST00000271348.2	-	2	706	c.545T>G	c.(544-546)cTg>cGg	p.L182R	RP11-433J22.2_ENST00000428911.1_RNA|GJA5_ENST00000369237.1_Missense_Mutation_p.L182R	NM_005266.5	NP_005257.2	P36382	CXA5_HUMAN	gap junction protein, alpha 5, 40kDa	182					angiogenesis (GO:0001525)|artery morphogenesis (GO:0048844)|atrial cardiac muscle cell action potential (GO:0086014)|atrial septum development (GO:0003283)|AV node cell to bundle of His cell communication by electrical coupling (GO:0086053)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|gap junction assembly (GO:0016264)|mitral valve development (GO:0003174)|outflow tract morphogenesis (GO:0003151)|pulmonary valve formation (GO:0003193)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|transmembrane transport (GO:0055085)|ventricular septum development (GO:0003281)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)	gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling (GO:0086077)|gap junction channel activity involved in cardiac conduction electrical coupling (GO:0086075)|gap junction hemi-channel activity (GO:0055077)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GCAGACATGCAGGGTGGTCAG	0.552																																																	0													83.0	76.0	79.0					1																	147230802		2203	4300	6503	SO:0001583	missense	2702				CCDS929.1	1q21.1	2008-02-05	2007-01-16		ENSG00000143140	ENSG00000265107		"""Ion channels / Gap junction proteins (connexins)"""	4279	protein-coding gene	gene with protein product	"""connexin 40"""	121013	"""gap junction protein, alpha 5, 40kD (connexin 40)"", ""gap junction protein, alpha 5, 40kDa (connexin 40)"""				Standard	NM_005266		Approved	CX40	uc001eps.1	P36382	OTTHUMG00000014020	ENST00000271348.2:c.545T>G	1.37:g.147230802A>C	ENSP00000271348:p.Leu182Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3B6|Q5U0N6	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin40	p.L182R	ENST00000271348.2	37	c.545	CCDS929.1	1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.417893	0.83449	.	.	ENSG00000143140	ENST00000271348;ENST00000369237;ENST00000430508	D;D;D	0.96168	-3.93;-3.93;-3.93	5.68	5.68	0.88126	Gap junction protein, cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	D	0.96531	0.8868	L	0.60012	1.86	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.97047	0.9761	10	0.59425	D	0.04	.	15.9362	0.79712	1.0:0.0:0.0:0.0	.	182	P36382	CXA5_HUMAN	R	182	ENSP00000271348:L182R;ENSP00000358240:L182R;ENSP00000407645:L182R	ENSP00000271348:L182R	L	-	2	0	GJA5	145697426	1.000000	0.71417	0.994000	0.49952	0.959000	0.62525	9.332000	0.96446	2.163000	0.67991	0.460000	0.39030	CTG	GJA5	-	pfam_Connexin_CCC		0.552	GJA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA5	HGNC	protein_coding	OTTHUMT00000039422.2	A	NM_181703		147230802	-1	no_errors	ENST00000271348	ensembl	human	known	70_37	missense	SNP	1.000	C
GLT1D1	144423	genome.wustl.edu	37	12	129467532	129467532	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr12:129467532T>A	ENST00000442111.2	+	12	1026	c.938T>A	c.(937-939)gTa>gAa	p.V313E	GLT1D1_ENST00000537468.1_Missense_Mutation_p.V318E|GLT1D1_ENST00000542193.1_Missense_Mutation_p.V230E|GLT1D1_ENST00000281703.6_Missense_Mutation_p.V233E			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	313					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)	p.V233E(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		AAGGAAATCGTAGTGAACGGA	0.428																																																	1	Substitution - Missense(1)	cervix(1)											197.0	178.0	184.0					12																	129467532		2203	4300	6503	SO:0001583	missense	144423				CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.938T>A	12.37:g.129467532T>A	ENSP00000394692:p.Val313Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86XG8	Missense_Mutation	SNP	pfam_Glyco_trans_1	p.V313E	ENST00000442111.2	37	c.938		12	.	.	.	.	.	.	.	.	.	.	T	10.47	1.358024	0.24598	.	.	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468;ENST00000542193	T;T;T;T	0.79247	-1.25;-1.25;-1.25;-1.25	5.23	1.6	0.23607	.	0.128119	0.51477	D	0.000081	T	0.77054	0.4074	L	0.58428	1.81	0.24382	N	0.994785	P;P	0.51351	0.528;0.944	B;P	0.52957	0.234;0.714	T	0.66488	-0.5911	10	0.30078	T	0.28	-26.5673	7.9846	0.30205	0.0:0.2406:0.0:0.7594	.	318;233	F5H088;Q96MS3-2	.;.	E	313;233;318;230	ENSP00000394692:V313E;ENSP00000281703:V233E;ENSP00000438158:V318E;ENSP00000437500:V230E	ENSP00000281703:V233E	V	+	2	0	GLT1D1	128033485	0.990000	0.36364	0.075000	0.20258	0.000000	0.00434	1.209000	0.32357	0.092000	0.17331	-0.376000	0.06991	GTA	GLT1D1	-	pfam_Glyco_trans_1		0.428	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	GLT1D1	HGNC	protein_coding	OTTHUMT00000399740.1	T	NM_144669		129467532	+1	no_errors	ENST00000442111	ensembl	human	known	70_37	missense	SNP	0.223	A
GPR112	139378	genome.wustl.edu	37	X	135428590	135428590	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chrX:135428590A>T	ENST00000394143.1	+	6	3016	c.2725A>T	c.(2725-2727)Agt>Tgt	p.S909C	GPR112_ENST00000370652.1_Missense_Mutation_p.S909C|GPR112_ENST00000412101.1_Missense_Mutation_p.S704C|GPR112_ENST00000287534.4_Missense_Mutation_p.S846C|GPR112_ENST00000394141.1_Missense_Mutation_p.S704C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	909					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.S909C(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGTGAGAGAAAGTTGGCTTTT	0.378																																																	1	Substitution - Missense(1)	cervix(1)											101.0	98.0	99.0					X																	135428590		2203	4299	6502	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.2725A>T	X.37:g.135428590A>T	ENSP00000377699:p.Ser909Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S909C	ENST00000394143.1	37	c.2725	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	A	12.09	1.834276	0.32421	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.41065	1.05;1.05;1.01;1.12;1.01	2.53	2.53	0.30540	.	.	.	.	.	T	0.48059	0.1479	L	0.32530	0.975	0.09310	N	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.74674	0.957;0.98;0.984	T	0.20940	-1.0260	9	0.87932	D	0	.	6.2409	0.20789	1.0:0.0:0.0:0.0	.	846;704;909	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	C	909;909;704;846;704	ENSP00000377699:S909C;ENSP00000359686:S909C;ENSP00000416526:S704C;ENSP00000287534:S846C;ENSP00000377697:S704C	ENSP00000287534:S846C	S	+	1	0	GPR112	135256256	0.989000	0.36119	0.217000	0.23759	0.605000	0.37080	2.359000	0.44142	1.266000	0.44231	0.235000	0.17854	AGT	GPR112	-	NULL		0.378	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	A			135428590	+1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.216	T
HPR	3250	genome.wustl.edu	37	16	72107831	72107831	+	Missense_Mutation	SNP	C	C	A	rs369512628		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr16:72107831C>A	ENST00000540303.2	+	2	78	c.46C>A	c.(46-48)Cag>Aag	p.Q16K	HPR_ENST00000356967.5_Missense_Mutation_p.Q16K|HPR_ENST00000228226.8_Missense_Mutation_p.Q53K|HPR_ENST00000561690.1_Missense_Mutation_p.Q16K	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	16						blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|spherical high-density lipoprotein particle (GO:0034366)	hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)	p.Q16K(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CTGGGGACGACAGCTTTTTGC	0.527																																																	1	Substitution - Missense(1)	cervix(1)											279.0	176.0	211.0					16																	72107831		2124	4240	6364	SO:0001583	missense	3250			BC160066	CCDS42193.1	16q22.2	2012-10-03			ENSG00000261701	ENSG00000261701			5156	protein-coding gene	gene with protein product		140210				2987228, 16778136	Standard	NM_020995		Approved		uc002fby.3	P00739	OTTHUMG00000173010	ENST00000540303.2:c.46C>A	16.37:g.72107831C>A	ENSP00000441828:p.Gln16Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7LE20|Q92658|Q92659|Q9ULB0	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pirsf_Haptoglobin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.Q53K	ENST00000540303.2	37	c.157	CCDS42193.1	16	.	.	.	.	.	.	.	.	.	.	C	7.511	0.654694	0.14580	.	.	ENSG00000257017	ENST00000356967;ENST00000540303;ENST00000228226	D;D;D	0.88277	-2.3;-2.3;-2.36	0.933	0.933	0.19471	.	.	.	.	.	D	0.85745	0.5768	M	0.78223	2.4	0.24575	N	0.993905	B	0.28208	0.203	B	0.24006	0.05	T	0.76165	-0.3059	9	0.42905	T	0.14	.	5.1851	0.15180	0.0:1.0:0.0:0.0	.	16	P00739	HPTR_HUMAN	K	16;16;53	ENSP00000349451:Q16K;ENSP00000441828:Q16K;ENSP00000228226:Q53K	ENSP00000228226:Q53K	Q	+	1	0	HP	70665332	1.000000	0.71417	0.888000	0.34837	0.174000	0.22865	1.519000	0.35888	0.797000	0.33971	0.436000	0.28706	CAG	HPR	-	pirsf_Haptoglobin		0.527	HPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPR	HGNC	protein_coding	OTTHUMT00000421696.1	C	NM_020995		72107831	+1	no_errors	ENST00000228226	ensembl	human	known	70_37	missense	SNP	0.917	A
KCNA4	3739	genome.wustl.edu	37	11	30034064	30034064	+	Silent	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr11:30034064G>A	ENST00000328224.6	-	2	1395	c.162C>T	c.(160-162)agC>agT	p.S54S	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	54					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.S54S(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	CAGAACCCCCGCTACCTTCGA	0.697																																																	1	Substitution - coding silent(1)	cervix(1)																																								SO:0001819	synonymous_variant	3739			M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.162C>T	11.37:g.30034064G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.S54	ENST00000328224.6	37	c.162	CCDS41629.1	11																																																																																			KCNA4	-	pfam_K_chnl_volt-dep_Kv1.4_TID,prints_K_chnl_volt-dep_Kv1.4		0.697	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA4	HGNC	protein_coding	OTTHUMT00000388074.2	G	NM_002233		30034064	-1	no_errors	ENST00000328224	ensembl	human	known	70_37	silent	SNP	0.012	A
KCNAB1	7881	genome.wustl.edu	37	3	156249272	156249272	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr3:156249272C>T	ENST00000490337.1	+	13	1220	c.1156C>T	c.(1156-1158)Ctt>Ttt	p.L386F	KCNAB1_ENST00000302490.8_Missense_Mutation_p.L368F|KCNAB1_ENST00000471742.1_Missense_Mutation_p.L375F|KCNAB1_ENST00000497291.1_3'UTR|KCNAB1_ENST00000389634.5_Missense_Mutation_p.L339F|KCNAB1_ENST00000389636.5_Missense_Mutation_p.L357F	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	386					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)	p.L386F(1)|p.L375F(1)|p.L368F(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CATTGAAAACCTTGGTGCCAT	0.527																																																	3	Substitution - Missense(3)	cervix(3)											212.0	181.0	191.0					3																	156249272		2203	4300	6503	SO:0001583	missense	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.1156C>T	3.37:g.156249272C>T	ENSP00000419952:p.Leu386Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.L386F	ENST00000490337.1	37	c.1156	CCDS3174.1	3	.	.	.	.	.	.	.	.	.	.	c	24.2	4.506211	0.85282	.	.	ENSG00000169282	ENST00000490337;ENST00000389636;ENST00000471742;ENST00000302490;ENST00000389634	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	4.96	4.96	0.65561	NADP-dependent oxidoreductase domain (3);	0.000000	0.85682	D	0.000000	T	0.60038	0.2238	M	0.84082	2.675	0.80722	D	1	D;D;D;D;D	0.62365	0.976;0.989;0.991;0.97;0.976	D;D;D;D;D	0.70716	0.965;0.962;0.97;0.92;0.965	T	0.66532	-0.5900	10	0.62326	D	0.03	-1.9905	18.2074	0.89859	0.0:1.0:0.0:0.0	.	357;339;368;375;386	B7Z8E5;F8W6W4;B3KPZ4;Q14722-3;Q14722	.;.;.;.;KCAB1_HUMAN	F	386;357;375;368;339	ENSP00000419952:L386F;ENSP00000374287:L357F;ENSP00000418956:L375F;ENSP00000305858:L368F;ENSP00000374285:L339F	ENSP00000305858:L368F	L	+	1	0	KCNAB1	157731966	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.620000	0.67736	2.274000	0.75844	0.457000	0.33378	CTT	KCNAB1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,tigrfam_K_chnl_volt-dep_bsu_KCNAB		0.527	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	KCNAB1	HGNC	protein_coding	OTTHUMT00000351411.1	C	NM_003471		156249272	+1	no_errors	ENST00000490337	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA1024	23251	genome.wustl.edu	37	15	79760682	79760682	+	Missense_Mutation	SNP	G	G	A	rs201676825		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr15:79760682G>A	ENST00000305428.3	+	4	2782	c.2707G>A	c.(2707-2709)Gtc>Atc	p.V903I		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	903						integral component of membrane (GO:0016021)		p.V903I(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GGCATGCACCGTCATCCTCGT	0.463																																																	1	Substitution - Missense(1)	cervix(1)						G	ILE/VAL	0,4392		0,0,2196	78.0	67.0	71.0		2707	5.7	0.8	15		71	2,8584	2.2+/-6.3	0,2,4291	no	missense	KIAA1024	NM_015206.2	29	0,2,6487	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	903/917	79760682	2,12976	2196	4293	6489	SO:0001583	missense	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.2707G>A	15.37:g.79760682G>A	ENSP00000307461:p.Val903Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD43	Missense_Mutation	SNP	pfam_UPF0258	p.V903I	ENST00000305428.3	37	c.2707	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059442	0.55325	0.0	2.33E-4	ENSG00000169330	ENST00000305428	T	0.46063	0.88	5.67	5.67	0.87782	.	0.063934	0.64402	D	0.000007	T	0.35537	0.0935	L	0.34521	1.04	0.50171	D	0.999858	P	0.52170	0.951	B	0.40134	0.32	T	0.07731	-1.0757	9	.	.	.	.	19.7863	0.96440	0.0:0.0:1.0:0.0	.	903	Q9UPX6	K1024_HUMAN	I	903	ENSP00000307461:V903I	.	V	+	1	0	KIAA1024	77547737	1.000000	0.71417	0.838000	0.33150	0.012000	0.07955	5.106000	0.64597	2.665000	0.90641	0.655000	0.94253	GTC	KIAA1024	-	pfam_UPF0258		0.463	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	HGNC	protein_coding	OTTHUMT00000416718.1	G	NM_015206		79760682	+1	no_errors	ENST00000305428	ensembl	human	known	70_37	missense	SNP	0.995	A
Unknown	0	genome.wustl.edu	37	GL000209.1	11161	11161	+	IGR	SNP	C	C	T			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chrGL000209.1:11161C>T								None (None upstream) : None (None downstream)																							GATGCGGGTTCCCAGGTCAAC	0.552																																																	0																																										SO:0001628	intergenic_variant	3813																															GL000209.1.37:g.11161C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2	p.S176F		37	c.527		GL000209.1																																																																																			KIR3DS1	-	smart_Ig_sub	0	0.552					KIR3DS1	HGNC			C			11161	+1	no_errors	ENST00000400875	ensembl	human	known	70_37	missense	SNP	NULL	T
KLHL6	89857	genome.wustl.edu	37	3	183273417	183273417	+	Missense_Mutation	SNP	C	C	T	rs376100820		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr3:183273417C>T	ENST00000341319.3	-	1	60	c.25G>A	c.(25-27)Gcc>Acc	p.A9T		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	9					B cell receptor signaling pathway (GO:0050853)|germinal center formation (GO:0002467)			p.A9T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATGGTCCAGGCGCCCCTTTGT	0.587																																																	1	Substitution - Missense(1)	cervix(1)						C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	69.0	76.0	74.0		25	-10.8	0.0	3		74	0,8600		0,0,4300	no	missense	KLHL6	NM_130446.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	9/622	183273417	1,13005	2203	4300	6503	SO:0001583	missense	89857			AF441792	CCDS3245.2	3q27.3	2013-01-30	2013-01-30		ENSG00000172578	ENSG00000172578		"""Kelch-like"", ""BTB/POZ domain containing"""	18653	protein-coding gene	gene with protein product	"""kelch-like protein KLHL6"""	614214	"""kelch-like 6 (Drosophila)"""			11214971, 12617994	Standard	NM_130446		Approved	FLJ00029	uc003flr.3	Q8WZ60	OTTHUMG00000148673	ENST00000341319.3:c.25G>A	3.37:g.183273417C>T	ENSP00000341342:p.Ala9Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB31|D3DNS8|Q8N5I1|Q8N892	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A9T	ENST00000341319.3	37	c.25	CCDS3245.2	3	.	.	.	.	.	.	.	.	.	.	C	3.385	-0.125594	0.06795	2.27E-4	0.0	ENSG00000172578	ENST00000341319	T	0.73681	-0.77	5.54	-10.8	0.00216	.	.	.	.	.	T	0.43344	0.1243	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.17992	-1.0351	9	0.21540	T	0.41	.	1.4112	0.02292	0.325:0.2718:0.0801:0.3231	.	9	Q8WZ60	KLHL6_HUMAN	T	9	ENSP00000341342:A9T	ENSP00000341342:A9T	A	-	1	0	KLHL6	184756111	0.000000	0.05858	0.005000	0.12908	0.183000	0.23260	-2.759000	0.00787	-1.823000	0.01210	-0.762000	0.03455	GCC	KLHL6	-	NULL		0.587	KLHL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL6	HGNC	protein_coding	OTTHUMT00000309024.1	C	NM_130446		183273417	-1	no_errors	ENST00000341319	ensembl	human	known	70_37	missense	SNP	0.001	T
LRP1	4035	genome.wustl.edu	37	12	57559991	57559991	+	Splice_Site	SNP	A	A	G			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr12:57559991A>G	ENST00000243077.3	+	17	3262	c.2796A>G	c.(2794-2796)tcA>tcG	p.S932S		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	932	LDL-receptor class A 4. {ECO:0000255|PROSITE-ProRule:PRU00124}.				aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.S932S(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCACTTGTTCAGGTGTGGAGC	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											54.0	45.0	48.0					12																	57559991		2203	4299	6502	SO:0001630	splice_region_variant	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.2797+1A>G	12.37:g.57559991A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2PP12|Q86SW0|Q8IVG8	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S932	ENST00000243077.3	37	c.2796	CCDS8932.1	12																																																																																			LRP1	-	superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.582	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	A	NM_002332	Silent	57559991	+1	no_errors	ENST00000243077	ensembl	human	known	70_37	silent	SNP	1.000	G
LYZL1	84569	genome.wustl.edu	37	10	29581549	29581549	+	Missense_Mutation	SNP	G	G	A	rs146364281		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr10:29581549G>A	ENST00000375500.3	+	3	436	c.379G>A	c.(379-381)Gcg>Acg	p.A127T		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	81					cell wall macromolecule catabolic process (GO:0016998)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)	p.A127T(1)		central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				CAACAGCTTCGCGTGGTGCAG	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18697	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	cervix(1)						G	THR/ALA	3,4403	6.2+/-15.9	0,3,2200	168.0	137.0	147.0		379	3.3	0.3	10	dbSNP_134	147	0,8600		0,0,4300	no	missense	LYZL1	NM_032517.4	58	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	127/195	29581549	3,13003	2203	4300	6503	SO:0001583	missense	84569				CCDS31174.1	10p12.1	2004-08-02			ENSG00000120563	ENSG00000120563	3.2.1.1		30502	protein-coding gene	gene with protein product						12477932	Standard	XM_005252627		Approved	MGC33408, LYC2	uc001iul.3	Q6UWQ5	OTTHUMG00000017880	ENST00000375500.3:c.379G>A	10.37:g.29581549G>A	ENSP00000364650:p.Ala127Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T921|Q8WW16	Missense_Mutation	SNP	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys	p.A127T	ENST00000375500.3	37	c.379	CCDS31174.1	10	.	.	.	.	.	.	.	.	.	.	G	2.507	-0.313808	0.05422	6.81E-4	0.0	ENSG00000120563	ENST00000375500	T	0.74737	-0.87	4.4	3.26	0.37387	.	0.517197	0.19602	N	0.110371	T	0.38241	0.1033	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32348	-0.9910	10	0.28530	T	0.3	-12.5448	7.0642	0.25143	0.8924:0.0:0.1076:0.0	.	127	Q6UWQ5-2	.	T	127	ENSP00000364650:A127T	ENSP00000364650:A127T	A	+	1	0	LYZL1	29621555	0.003000	0.15002	0.347000	0.25668	0.055000	0.15305	1.097000	0.30988	0.810000	0.34279	-0.238000	0.12139	GCG	LYZL1	-	pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22		0.557	LYZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYZL1	HGNC	protein_coding	OTTHUMT00000047381.1	G	NM_032517		29581549	+1	no_errors	ENST00000375500	ensembl	human	known	70_37	missense	SNP	0.191	A
MAP3K15	389840	genome.wustl.edu	37	X	19378902	19378902	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chrX:19378902C>T	ENST00000338883.4	-	29	3906	c.3907G>A	c.(3907-3909)Gct>Act	p.A1303T	PDHA1_ENST00000540249.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|PDHA1_ENST00000545074.1_3'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.A738T|MAP3K15_ENST00000469203.2_Missense_Mutation_p.A1135T|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000422285.2_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1303							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)	p.A1350T(1)|p.A778S(1)|p.A778T(1)		NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCCTCCTGAGCCCTTCTGTAC	0.512																																																	3	Substitution - Missense(3)	cervix(2)|lung(1)											164.0	113.0	130.0					X																	19378902		2203	4300	6503	SO:0001583	missense	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3907G>A	X.37:g.19378902C>T	ENSP00000345629:p.Ala1303Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A1303T	ENST00000338883.4	37	c.3907		X	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013993	0.54468	.	.	ENSG00000180815	ENST00000338883;ENST00000359173;ENST00000469203	D;D;D	0.87650	-2.28;-2.28;-2.28	5.62	-0.889	0.10580	Sterile alpha motif/pointed domain (1);	3.371120	0.01992	U	0.045612	T	0.72700	0.3493	N	0.13043	0.29	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.10450	0.005;0.002	T	0.58504	-0.7625	10	0.14252	T	0.57	.	1.1649	0.01813	0.2066:0.3211:0.1067:0.3656	.	778;1303	Q6ZN16-3;Q6ZN16	.;M3K15_HUMAN	T	1303;738;1135	ENSP00000345629:A1303T;ENSP00000352093:A738T;ENSP00000428356:A1135T	ENSP00000345629:A1303T	A	-	1	0	MAP3K15	19288823	0.000000	0.05858	0.000000	0.03702	0.966000	0.64601	-0.040000	0.12104	-0.227000	0.09884	0.594000	0.82650	GCT	MAP3K15	-	superfamily_SAM/pointed		0.512	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	MAP3K15	HGNC	protein_coding		C	NM_001001671		19378902	-1	no_errors	ENST00000338883	ensembl	human	known	70_37	missense	SNP	0.000	T
MEGF8	1954	genome.wustl.edu	37	19	42872634	42872634	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr19:42872634C>G	ENST00000251268.6	+	36	6301	c.6301C>G	c.(6301-6303)Cga>Gga	p.R2101G	MEGF8_ENST00000334370.4_Missense_Mutation_p.R2034G|MEGF8_ENST00000378073.4_5'Flank	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2101	PSI 6.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.R2034G(1)|p.R2101G(1)|p.R1642G(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTGCCCCTGCGATGTATGGC	0.622																																																	3	Substitution - Missense(3)	cervix(3)											10.0	10.0	10.0					19																	42872634		2109	4167	6276	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6301C>G	19.37:g.42872634C>G	ENSP00000251268:p.Arg2101Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.R2101G	ENST00000251268.6	37	c.6301		19	.	.	.	.	.	.	.	.	.	.	C	15.67	2.902828	0.52227	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21361	2.01;2.01	4.82	2.58	0.30949	.	0.000000	0.64402	D	0.000012	T	0.36413	0.0966	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.85130	0.823;0.997	T	0.02214	-1.1194	10	0.26408	T	0.33	-6.5436	12.7338	0.57212	0.2916:0.7084:0.0:0.0	.	2101;2034	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	G	2034;2101	ENSP00000334219:R2034G;ENSP00000251268:R2101G	ENSP00000251268:R2101G	R	+	1	2	MEGF8	47564474	1.000000	0.71417	0.941000	0.38009	0.601000	0.36947	5.074000	0.64401	0.516000	0.28340	0.561000	0.74099	CGA	MEGF8	-	smart_Plexin-like		0.622	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	C	NM_001410		42872634	+1	no_errors	ENST00000251268	ensembl	human	known	70_37	missense	SNP	1.000	G
MST1L	11223	genome.wustl.edu	37	1	17085322	17085322	+	RNA	SNP	C	C	T			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:17085322C>T	ENST00000455405.2	-	0	45							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GCACAGTAGTCGAATGGGGTC	0.607																																																	0																																												11223			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085322C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WPB1|Q13209	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.D457N	ENST00000455405.2	37	c.1369		1	.	.	.	.	.	.	.	.	.	.	.	15.03	2.711583	0.48517	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	.	0.000000	0.44688	D	0.000430	T	0.65101	0.2659	.	.	.	.	.	.	D	0.89917	1.0	D	0.91635	0.999	T	0.68918	-0.5282	6	0.87932	D	0	.	5.8178	0.18506	0.0:0.999:0.0:0.001	.	457	Q2TV78-2	.	N	414;457;457	.	ENSP00000439273:D457N	D	-	1	0	MST1P9	16957909	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	4.821000	0.62679	-0.000000	0.14550	0.000000	0.15137	GAC	MST1L	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle,pfscan_Peptidase_S1_S6		0.607	MST1L-002	KNOWN	basic	processed_transcript	MST1L	HGNC	pseudogene	OTTHUMT00000400328.1	C	NM_001271733		17085322	-1	no_errors	ENST00000334998	ensembl	human	known	70_37	missense	SNP	1.000	T
METTL13	51603	genome.wustl.edu	37	1	171755064	171755064	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:171755064G>C	ENST00000361735.3	+	3	1225	c.959G>C	c.(958-960)gGc>gCc	p.G320A	METTL13_ENST00000367737.5_Missense_Mutation_p.G164A|METTL13_ENST00000458517.1_Missense_Mutation_p.G319A|METTL13_ENST00000362019.3_Missense_Mutation_p.G234A	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	320							methyltransferase activity (GO:0008168)	p.G320A(1)		breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						ATGGATGAGGGCCGGAAACAG	0.557																																																	1	Substitution - Missense(1)	cervix(1)											58.0	54.0	56.0					1																	171755064		2203	4300	6503	SO:0001583	missense	51603			AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.959G>C	1.37:g.171755064G>C	ENSP00000354920:p.Gly320Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase	p.G320A	ENST00000361735.3	37	c.959	CCDS1299.1	1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115180	0.77210	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	5.2	5.2	0.72013	.	0.099223	0.64402	D	0.000002	T	0.59756	0.2217	M	0.71296	2.17	0.80722	D	1	D;D;P	0.89917	0.963;1.0;0.951	P;D;B	0.97110	0.695;1.0;0.382	T	0.61657	-0.7018	10	0.87932	D	0	-17.331	18.0269	0.89272	0.0:0.0:1.0:0.0	.	319;164;320	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	A	319;234;164;320	ENSP00000401955:G319A;ENSP00000355393:G234A;ENSP00000356711:G164A;ENSP00000354920:G320A	ENSP00000354920:G320A	G	+	2	0	METTL13	170021687	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.463000	0.97652	2.861000	0.98227	0.655000	0.94253	GGC	METTL13	-	NULL		0.557	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL13	HGNC	protein_coding	OTTHUMT00000084528.5	G	NM_014955		171755064	+1	no_errors	ENST00000361735	ensembl	human	known	70_37	missense	SNP	1.000	C
MTMR9	66036	genome.wustl.edu	37	8	11162520	11162520	+	Silent	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr8:11162520G>A	ENST00000221086.3	+	4	1061	c.588G>A	c.(586-588)ggG>ggA	p.G196G	MTMR9_ENST00000526292.1_Silent_p.G111G	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	196	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.					cytoplasm (GO:0005737)	enzyme regulator activity (GO:0030234)|phosphatase activity (GO:0016791)	p.G196G(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		AAAAAAATGGGATGGTAAGTG	0.453																																																	1	Substitution - coding silent(1)	cervix(1)											94.0	80.0	85.0					8																	11162520		2203	4300	6503	SO:0001819	synonymous_variant	66036			AJ297823	CCDS5979.1	8p23-p22	2011-06-09	2002-09-05	2002-09-06	ENSG00000104643	ENSG00000104643		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	14596	protein-coding gene	gene with protein product		606260	"""myotubularin related protein 8"""	C8orf9, MTMR8		11472061, 11896452, 12890864	Standard	NM_015458		Approved	DKFZp434K171, LIP-STYX	uc003wtm.3	Q96QG7	OTTHUMG00000090647	ENST00000221086.3:c.588G>A	8.37:g.11162520G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z291|Q52LU3|Q8WW11|Q96QG6|Q9NX50	Silent	SNP	pfam_Myotub-related	p.G196	ENST00000221086.3	37	c.588	CCDS5979.1	8																																																																																			MTMR9	-	pfam_Myotub-related		0.453	MTMR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTMR9	HGNC	protein_coding	OTTHUMT00000207307.2	G	NM_015458		11162520	+1	no_errors	ENST00000221086	ensembl	human	known	70_37	silent	SNP	0.999	A
MUC2	4583	genome.wustl.edu	37	11	1078304	1078304	+	Silent	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr11:1078304G>A	ENST00000441003.2	+	5	618	c.591G>A	c.(589-591)caG>caA	p.Q197Q	MUC2_ENST00000359061.5_Silent_p.Q197Q	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	197	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.Q197Q(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGAACATGCAGAAGATCAACC	0.662																																																	2	Substitution - coding silent(2)	cervix(2)											74.0	87.0	83.0					11																	1078304		2068	4193	6261	SO:0001819	synonymous_variant	4583			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.591G>A	11.37:g.1078304G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,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.Q197	ENST00000441003.2	37	c.591		11																																																																																			MUC2	-	NULL		0.662	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	G	NM_002457		1078304	+1	no_errors	ENST00000441003	ensembl	human	known	70_37	silent	SNP	1.000	A
NOTCH4	4855	genome.wustl.edu	37	6	32190320	32190320	+	Missense_Mutation	SNP	C	C	T	rs377458854		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr6:32190320C>T	ENST00000375023.3	-	3	557	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	140	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.R140H(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GCACTGTGGGCGGCCCGAGGC	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		18424	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	cervix(1)						C	HIS/ARG	2,4388		0,2,2193	26.0	29.0	28.0		419	-1.8	1.0	6		28	0,8588		0,0,4294	no	missense	NOTCH4	NM_004557.3	29	0,2,6487	TT,TC,CC		0.0,0.0456,0.0154	probably-damaging	140/2004	32190320	2,12976	2195	4294	6489	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.419G>A	6.37:g.32190320C>T	ENSP00000364163:p.Arg140His	Somatic		WXS	Illumina HiSeq	Phase_IV	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.R140H	ENST00000375023.3	37	c.419	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	6.164	0.398368	0.11696	4.56E-4	0.0	ENSG00000204301	ENST00000375023	T	0.09445	2.98	4.14	-1.82	0.07857	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.589266	0.14478	N	0.317143	T	0.01765	0.0056	N	0.21448	0.665	0.09310	N	1	B;B	0.20887	0.049;0.012	B;B	0.14578	0.011;0.005	T	0.42548	-0.9445	10	0.62326	D	0.03	.	3.8831	0.09086	0.2829:0.4326:0.0:0.2845	.	140;140	Q6P3V5;Q99466	.;NOTC4_HUMAN	H	140	ENSP00000364163:R140H	ENSP00000364163:R140H	R	-	2	0	NOTCH4	32298298	0.000000	0.05858	0.964000	0.40570	0.942000	0.58702	-1.159000	0.03150	-0.243000	0.09653	-0.254000	0.11334	CGC	NOTCH4	-	smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom		0.642	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	C			32190320	-1	no_errors	ENST00000375023	ensembl	human	known	70_37	missense	SNP	0.000	T
NSD1	64324	genome.wustl.edu	37	5	176687059	176687059	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr5:176687059C>G	ENST00000439151.2	+	14	5081	c.5036C>G	c.(5035-5037)tCa>tGa	p.S1679*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.S1576*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.S1410*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.S1410*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1679					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.S1679*(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCTGCTGGGTCAAAGATCCTT	0.498			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	2	Substitution - Nonsense(2)	cervix(2)											128.0	117.0	121.0					5																	176687059		2203	4300	6503	SO:0001587	stop_gained	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5036C>G	5.37:g.176687059C>G	ENSP00000395929:p.Ser1679*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PD8|Q96RN7	Nonsense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.S1679*	ENST00000439151.2	37	c.5036	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	C	44	10.987353	0.99499	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	5.51	5.51	0.81932	.	0.000000	0.53938	D	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.783	0.96424	0.0:1.0:0.0:0.0	.	.	.	.	X	1410;1679;1410;1576	.	ENSP00000343209:S1410X	S	+	2	0	NSD1	176619665	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.281000	0.72632	2.752000	0.94435	0.467000	0.42956	TCA	NSD1	-	smart_Znf_PHD		0.498	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	C	NM_172349		176687059	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	nonsense	SNP	1.000	G
OR5M10	390167	genome.wustl.edu	37	11	56344766	56344766	+	Silent	SNP	C	C	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr11:56344766C>A	ENST00000526812.2	-	1	497	c.432G>T	c.(430-432)ctG>ctT	p.L144L		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L144L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GCACAGTGACCAGAGAGATGC	0.438																																																	1	Substitution - coding silent(1)	cervix(1)											180.0	171.0	174.0					11																	56344766		2019	4202	6221	SO:0001819	synonymous_variant	390167			BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.432G>T	11.37:g.56344766C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIL9	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L144	ENST00000526812.2	37	c.432	CCDS53630.1	11																																																																																			OR5M10	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.438	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M10	HGNC	protein_coding	OTTHUMT00000391609.1	C	NM_001004741		56344766	-1	no_errors	ENST00000526812	ensembl	human	known	70_37	silent	SNP	0.000	A
P2RY4	5030	genome.wustl.edu	37	X	69479287	69479287	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chrX:69479287C>T	ENST00000374519.2	-	1	367	c.188G>A	c.(187-189)cGc>cAc	p.R63H		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	63					phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|transepithelial chloride transport (GO:0030321)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|uridine nucleotide receptor activity (GO:0015065)|UTP-activated nucleotide receptor activity (GO:0045030)	p.R63H(1)		cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GGGTCGGAGGCGGAAGATGAA	0.537																																																	1	Substitution - Missense(1)	cervix(1)											90.0	64.0	73.0					X																	69479287		2203	4300	6503	SO:0001583	missense	5030			X91852	CCDS14398.1	Xq13	2012-08-08			ENSG00000186912	ENSG00000186912		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8542	protein-coding gene	gene with protein product		300038				8537336	Standard	NM_002565		Approved	NRU, P2Y4, UNR, P2P	uc004dxz.1	P51582	OTTHUMG00000021769	ENST00000374519.2:c.188G>A	X.37:g.69479287C>T	ENSP00000363643:p.Arg63His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VBB7|Q4VBB8|Q502W2|Q5JT22	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_purnocptor,prints_P2_purnocptor,prints_GPCR_Rhodpsn,prints_P2U_purnocptor	p.R63H	ENST00000374519.2	37	c.188	CCDS14398.1	X	.	.	.	.	.	.	.	.	.	.	C	6.942	0.543610	0.13250	.	.	ENSG00000186912	ENST00000374519	T	0.71934	-0.61	4.14	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.141046	0.44285	N	0.000476	T	0.63177	0.2489	L	0.55017	1.72	0.30569	N	0.763715	B	0.27229	0.172	B	0.33196	0.159	T	0.60125	-0.7324	10	0.49607	T	0.09	.	7.3387	0.26625	0.0:0.5955:0.0:0.4045	.	63	P51582	P2RY4_HUMAN	H	63	ENSP00000363643:R63H	ENSP00000363643:R63H	R	-	2	0	P2RY4	69396012	1.000000	0.71417	0.801000	0.32222	0.562000	0.35680	1.500000	0.35682	-0.008000	0.14320	0.517000	0.50305	CGC	P2RY4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y4_purnocptor,prints_P2U_purnocptor		0.537	P2RY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY4	HGNC	protein_coding	OTTHUMT00000057058.2	C	NM_002565		69479287	-1	no_errors	ENST00000374519	ensembl	human	known	70_37	missense	SNP	0.996	T
PARK2	5071	genome.wustl.edu	37	6	162864488	162864488	+	Missense_Mutation	SNP	A	A	C	rs111356273		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr6:162864488A>C	ENST00000366898.1	-	2	127	c.25T>G	c.(25-27)Tcc>Gcc	p.S9A	PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366892.1_Missense_Mutation_p.S9A|PARK2_ENST00000366896.1_Missense_Mutation_p.S9A|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366897.1_Missense_Mutation_p.S9A	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	9	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.S9A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CCATGGCTGGAGTTGAACCTG	0.512																																																	1	Substitution - Missense(1)	cervix(1)											113.0	96.0	102.0					6																	162864488		2203	4300	6503	SO:0001583	missense	5071				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.25T>G	6.37:g.162864488A>C	ENSP00000355865:p.Ser9Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_Znf_C6HC,pfam_SUMO,smart_Ubiquitin,smart_Znf_C6HC,pirsf_Parkin,pfscan_Ubiquitin_supergroup,prints_Parkin,prints_Ubiquitin_subgr	p.S9A	ENST00000366898.1	37	c.25	CCDS5281.1	6	.	.	.	.	.	.	.	.	.	.	A	19.59	3.855613	0.71834	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366892;ENST00000542682	D;D;D;D	0.96334	-3.98;-3.98;-3.98;-3.98	5.63	5.63	0.86233	Ubiquitin supergroup (1);Ubiquitin (1);	0.076069	0.56097	D	0.000029	D	0.97408	0.9152	M	0.69823	2.125	0.34234	D	0.676892	D;P;D;D	0.76494	0.998;0.88;0.999;0.998	D;D;D;D	0.80764	0.994;0.913;0.954;0.954	D	0.98925	1.0785	10	0.62326	D	0.03	.	16.1307	0.81436	1.0:0.0:0.0:0.0	.	9;9;9;9	O60260-5;Q5VVX3;Q5VVX4;O60260	.;.;.;PRKN2_HUMAN	A	9;9;9;9;8	ENSP00000355865:S9A;ENSP00000355863:S9A;ENSP00000355862:S9A;ENSP00000355858:S9A	ENSP00000355858:S9A	S	-	1	0	PARK2	162784478	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.228000	0.78079	2.263000	0.75096	0.533000	0.62120	TCC	PARK2	-	pfam_SUMO,smart_Ubiquitin,pirsf_Parkin,pfscan_Ubiquitin_supergroup		0.512	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PARK2	HGNC	protein_coding	OTTHUMT00000042995.1	A			162864488	-1	no_errors	ENST00000366898	ensembl	human	known	70_37	missense	SNP	1.000	C
PARP2	10038	genome.wustl.edu	37	14	20818765	20818765	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr14:20818765G>C	ENST00000250416.5	+	5	471	c.444G>C	c.(442-444)tgG>tgC	p.W148C	PARP2_ENST00000429687.3_Missense_Mutation_p.W135C|PARP2_ENST00000527915.1_Missense_Mutation_p.W148C	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	148					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.W148C(1)|p.W99C(1)		central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TCAGTGTTTGGATGAGATGGG	0.408								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									2	Substitution - Missense(2)	cervix(2)											147.0	133.0	137.0					14																	20818765		1875	4113	5988	SO:0001583	missense	10038			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106	ENST00000250416.5:c.444G>C	14.37:g.20818765G>C	ENSP00000250416:p.Trp148Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.W148C	ENST00000250416.5	37	c.444	CCDS41910.1	14	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915224	0.73098	.	.	ENSG00000129484	ENST00000429687;ENST00000250416;ENST00000527915	T;T;T	0.18016	2.24;2.24;2.24	5.25	5.25	0.73442	WGR domain (4);	0.000000	0.85682	D	0.000000	T	0.54334	0.1852	M	0.94063	3.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.66356	-0.5944	10	0.87932	D	0	-9.1475	17.7773	0.88513	0.0:0.0:1.0:0.0	.	135;148	Q9UGN5-2;Q9UGN5	.;PARP2_HUMAN	C	135;148;148	ENSP00000392972:W135C;ENSP00000250416:W148C;ENSP00000432283:W148C	ENSP00000250416:W148C	W	+	3	0	PARP2	19888605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.134000	0.89606	2.738000	0.93877	0.655000	0.94253	TGG	PARP2	-	pfam_WGR_domain,superfamily_WGR_domain,smart_WGR_domain		0.408	PARP2-002	KNOWN	basic|CCDS	protein_coding	PARP2	HGNC	protein_coding	OTTHUMT00000387847.2	G			20818765	+1	no_errors	ENST00000250416	ensembl	human	known	70_37	missense	SNP	1.000	C
PARP4	143	genome.wustl.edu	37	13	25021201	25021201	+	Missense_Mutation	SNP	G	G	A	rs201405094	byFrequency	TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr13:25021201G>A	ENST00000381989.3	-	26	3343	c.3238C>T	c.(3238-3240)Ctc>Ttc	p.L1080F		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1080				L -> R (in Ref. 1; AAD47250, 2; AAC62491 and 3; BAA11494). {ECO:0000305}.	cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L1080F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CGATCATTGAGAAACAAGGAC	0.493													g|||	8	0.00159744	0.0	0.0029	5008	,	,		13787	0.001		0.0	False		,,,				2504	0.0051																1	Substitution - Missense(1)	skin(1)											67.0	51.0	56.0					13																	25021201		2203	4299	6502	SO:0001583	missense	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3238C>T	13.37:g.25021201G>A	ENSP00000371419:p.Leu1080Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.L1080F	ENST00000381989.3	37	c.3238	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	G	4.674	0.125355	0.08931	.	.	ENSG00000102699	ENST00000381989	T	0.01745	4.66	4.71	2.85	0.33270	.	0.325754	0.35262	N	0.003328	T	0.01092	0.0036	N	0.08118	0	0.09310	N	0.999998	B	0.11235	0.004	B	0.04013	0.001	T	0.47341	-0.9125	10	0.54805	T	0.06	-10.9305	5.5759	0.17222	0.0974:0.0:0.6231:0.2795	.	1080	Q9UKK3	PARP4_HUMAN	F	1080	ENSP00000371419:L1080F	ENSP00000371419:L1080F	L	-	1	0	PARP4	23919201	0.976000	0.34144	0.707000	0.30419	0.039000	0.13416	2.534000	0.45676	1.354000	0.45846	-0.149000	0.13747	CTC	PARP4	-	NULL		0.493	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	G	NM_006437		25021201	-1	no_errors	ENST00000381989	ensembl	human	known	70_37	missense	SNP	0.979	A
PAX1	5075	genome.wustl.edu	37	20	21687618	21687618	+	Missense_Mutation	SNP	G	G	C	rs376309924		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr20:21687618G>C	ENST00000398485.2	+	2	883	c.829G>C	c.(829-831)Gcg>Ccg	p.A277P	PAX1_ENST00000460221.1_3'UTR|PAX1_ENST00000444366.2_Missense_Mutation_p.A253P	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	277					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A277P(1)|p.A183T(1)|p.A277T(1)|p.A183P(1)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						CCCGGGCACGGCGGGCCACGT	0.667																																																	4	Substitution - Missense(4)	cervix(2)|endometrium(2)											19.0	22.0	21.0					20																	21687618		2194	4286	6480	SO:0001583	missense	5075				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.829G>C	20.37:g.21687618G>C	ENSP00000381499:p.Ala277Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E0D6|Q642X9|Q6NTC0|Q9Y558	Missense_Mutation	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.A277P	ENST00000398485.2	37	c.829	CCDS13146.2	20	.	.	.	.	.	.	.	.	.	.	G	9.581	1.123613	0.20959	.	.	ENSG00000125813	ENST00000398485;ENST00000444366	D;D	0.98329	-4.37;-4.87	5.11	5.11	0.69529	.	0.428000	0.27406	N	0.019511	D	0.93294	0.7863	N	0.11255	0.115	0.39901	D	0.973905	B;B;B	0.28971	0.003;0.002;0.229	B;B;B	0.27608	0.009;0.003;0.081	D	0.92011	0.5618	10	0.19147	T	0.46	.	11.6592	0.51337	0.0823:0.0:0.9177:0.0	.	253;183;277	P15863-2;C9J775;P15863	.;.;PAX1_HUMAN	P	277;253	ENSP00000381499:A277P;ENSP00000410355:A253P	ENSP00000381499:A277P	A	+	1	0	PAX1	21635618	0.997000	0.39634	0.462000	0.27118	0.990000	0.78478	4.107000	0.57811	2.381000	0.81170	0.561000	0.74099	GCG	PAX1	-	NULL		0.667	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	G			21687618	+1	no_errors	ENST00000398485	ensembl	human	known	70_37	missense	SNP	0.907	C
PCDH11X	27328	genome.wustl.edu	37	X	91873845	91873845	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chrX:91873845C>T	ENST00000373094.1	+	7	4795	c.3950C>T	c.(3949-3951)tCa>tTa	p.S1317L	PCDH11X_ENST00000298274.8_Missense_Mutation_p.S1280L|PCDH11X_ENST00000361655.2_Missense_Mutation_p.S1299L|PCDH11X_ENST00000406881.1_Missense_Mutation_p.S1309L|PCDH11X_ENST00000504220.2_3'UTR|PCDH11X_ENST00000373097.1_Missense_Mutation_p.S1307L|PCDH11X_ENST00000373088.1_Missense_Mutation_p.S1280L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1317					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S1317L(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGTGATGATTCAATTAAAGTC	0.463																																					NSCLC(38;925 1092 2571 38200 45895)												1	Substitution - Missense(1)	cervix(1)											168.0	155.0	159.0					X																	91873845		2203	4300	6503	SO:0001583	missense	27328			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.3950C>T	X.37:g.91873845C>T	ENSP00000362186:p.Ser1317Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1317L	ENST00000373094.1	37	c.3950	CCDS14461.1	X	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553346	0.65425	.	.	ENSG00000102290	ENST00000373094;ENST00000373097;ENST00000373088;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T	0.60299	0.27;0.27;0.2;0.23;0.25;0.2	4.58	4.58	0.56647	.	.	.	.	.	T	0.60805	0.2297	N	0.24115	0.695	0.33438	D	0.581951	D;D;D;D;D	0.61697	0.99;0.99;0.99;0.99;0.983	P;P;P;P;P	0.59487	0.814;0.814;0.858;0.858;0.725	T	0.73116	-0.4084	9	0.87932	D	0	.	15.5329	0.75977	0.0:1.0:0.0:0.0	.	1280;1299;1309;1307;1317	Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7	.;.;.;.;PC11X_HUMAN	L	1317;1307;1280;1299;1309;1317;1280	ENSP00000362186:S1317L;ENSP00000362189:S1307L;ENSP00000362180:S1280L;ENSP00000355105:S1299L;ENSP00000384758:S1309L;ENSP00000298274:S1280L	ENSP00000298274:S1280L	S	+	2	0	PCDH11X	91760501	0.784000	0.28713	1.000000	0.80357	0.756000	0.42949	2.641000	0.46587	1.850000	0.53721	0.466000	0.42574	TCA	PCDH11X	-	NULL		0.463	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	C	NM_032969		91873845	+1	no_errors	ENST00000373094	ensembl	human	known	70_37	missense	SNP	0.998	T
PCDH9	5101	genome.wustl.edu	37	13	67800080	67800080	+	Silent	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr13:67800080G>A	ENST00000377865.2	-	1	2627	c.2493C>T	c.(2491-2493)ttC>ttT	p.F831F	PCDH9_ENST00000456367.1_Silent_p.F831F|PCDH9_ENST00000544246.1_Silent_p.F831F|PCDH9_ENST00000328454.5_Silent_p.F831F|PCDH9_ENST00000377861.3_Silent_p.F831F			Q9HC56	PCDH9_HUMAN	protocadherin 9	831					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.F831F(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAACGGTGACGAAGATCACAA	0.512																																																	1	Substitution - coding silent(1)	cervix(1)											194.0	171.0	179.0					13																	67800080		2203	4300	6503	SO:0001819	synonymous_variant	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2493C>T	13.37:g.67800080G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F831	ENST00000377865.2	37	c.2493	CCDS9444.1	13																																																																																			PCDH9	-	pfam_Protocadherin		0.512	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	G	NM_203487		67800080	-1	no_errors	ENST00000377865	ensembl	human	known	70_37	silent	SNP	0.938	A
PHC1	1911	genome.wustl.edu	37	12	9089894	9089894	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr12:9089894G>A	ENST00000543824.1	+	14	2932	c.2600G>A	c.(2599-2601)cGt>cAt	p.R867H	PHC1_ENST00000536844.1_Missense_Mutation_p.R473H|PHC1_ENST00000544916.1_Missense_Mutation_p.R867H|PHC1_ENST00000433083.2_Missense_Mutation_p.R822H			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	867					cellular response to retinoic acid (GO:0071300)|histone ubiquitination (GO:0016574)|multicellular organismal development (GO:0007275)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R867H(1)		breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GACATTGCCCGTGCCAAGATT	0.522													G|||	1	0.000199681	0.0	0.0	5008	,	,		-128	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	cervix(1)																																								SO:0001583	missense	1911			U89277	CCDS8597.1	12p13	2013-01-10	2006-09-12	2002-11-15	ENSG00000111752	ENSG00000111752		"""Sterile alpha motif (SAM) domain containing"""	3182	protein-coding gene	gene with protein product		602978	"""early development regulator 1 (homolog of polyhomeotic 1)"", ""polyhomeotic-like 1 (Drosophila)"""	EDR1		9121482	Standard	XM_005253334		Approved	HPH1, RAE28	uc001qvd.3	P78364	OTTHUMG00000168275	ENST00000543824.1:c.2600G>A	12.37:g.9089894G>A	ENSP00000440674:p.Arg867His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUV4|Q8WVM3|Q9BU63	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS	p.R867H	ENST00000543824.1	37	c.2600	CCDS8597.1	12	.	.	.	.	.	.	.	.	.	.	G	19.66	3.868802	0.72065	.	.	ENSG00000111752	ENST00000543824;ENST00000251757;ENST00000433083;ENST00000544916;ENST00000536844	T;T;T;T;T	0.47869	1.77;1.77;1.75;1.77;0.83	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000002	T	0.55816	0.1944	L	0.36672	1.1	0.50813	D	0.999898	D	0.71674	0.998	P	0.57152	0.814	T	0.53049	-0.8493	10	0.44086	T	0.13	-3.7058	19.1776	0.93609	0.0:0.0:1.0:0.0	.	867	P78364	PHC1_HUMAN	H	867;867;822;867;473	ENSP00000440674:R867H;ENSP00000251757:R867H;ENSP00000399194:R822H;ENSP00000437659:R867H;ENSP00000440488:R473H	ENSP00000251757:R867H	R	+	2	0	PHC1	8981161	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.277000	0.58939	2.624000	0.88883	0.655000	0.94253	CGT	PHC1	-	NULL		0.522	PHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHC1	HGNC	protein_coding	OTTHUMT00000399115.1	G	NM_004426		9089894	+1	no_errors	ENST00000251757	ensembl	human	known	70_37	missense	SNP	0.999	A
PIK3C3	5289	genome.wustl.edu	37	18	39593447	39593447	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr18:39593447A>C	ENST00000262039.4	+	11	1298	c.1212A>C	c.(1210-1212)aaA>aaC	p.K404N	PIK3C3_ENST00000398870.3_Missense_Mutation_p.K341N	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	404	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)	p.K404N(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AGGCTCTCAAATATGAAAATT	0.308										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)												1	Substitution - Missense(1)	cervix(1)											77.0	84.0	81.0					18																	39593447		2203	4298	6501	SO:0001583	missense	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1212A>C	18.37:g.39593447A>C	ENSP00000262039:p.Lys404Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15134	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.K404N	ENST00000262039.4	37	c.1212	CCDS11920.1	18	.	.	.	.	.	.	.	.	.	.	A	17.87	3.495927	0.64186	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.71698	-0.59;-0.59	5.34	2.6	0.31112	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85729	0.5764	H	0.94385	3.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.989;0.995	D	0.86047	0.1523	9	.	.	.	.	8.1432	0.31095	0.729:0.0:0.271:0.0	.	341;404	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	N	404;341	ENSP00000262039:K404N;ENSP00000381845:K341N	.	K	+	3	2	PIK3C3	37847445	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.608000	0.36847	0.929000	0.37192	0.528000	0.53228	AAA	PIK3C3	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,pirsf_PI3K_Vps34		0.308	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	HGNC	protein_coding	OTTHUMT00000255804.1	A	NM_002647		39593447	+1	no_errors	ENST00000262039	ensembl	human	known	70_37	missense	SNP	1.000	C
PPP1R15B	84919	genome.wustl.edu	37	1	204380406	204380406	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:204380406G>C	ENST00000367188.4	-	1	513	c.134C>G	c.(133-135)tCc>tGc	p.S45C	RP11-739N20.2_ENST00000443515.1_RNA	NM_032833.3	NP_116222.3	Q5SWA1	PR15B_HUMAN	protein phosphatase 1, regulatory subunit 15B	45					ER overload response (GO:0006983)|regulation of translation (GO:0006417)|response to hydrogen peroxide (GO:0042542)	protein phosphatase type 1 complex (GO:0000164)	protein serine/threonine phosphatase activity (GO:0004722)	p.S45C(1)		breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3)	34	all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227)		all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139)			GGGGTTCCCGGAGTTTTCCGG	0.632																																																	1	Substitution - Missense(1)	cervix(1)											53.0	62.0	59.0					1																	204380406		2203	4300	6503	SO:0001583	missense	84919			AK027650	CCDS1445.1	1q32.1	2012-04-17	2011-10-04		ENSG00000158615	ENSG00000158615		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14951	protein-coding gene	gene with protein product		613257	"""protein phosphatase 1, regulatory (inhibitor) subunit 15B"""			11948623	Standard	XM_005245551		Approved	FLJ14744	uc001hav.4	Q5SWA1	OTTHUMG00000036105	ENST00000367188.4:c.134C>G	1.37:g.204380406G>C	ENSP00000356156:p.Ser45Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53GQ4|Q658M2|Q6P156|Q96SN1	Missense_Mutation	SNP	pfam_Prot_Pase1_reg-su15B_N,pfam_Prot_Pase1_reg-su15A/B_C	p.S45C	ENST00000367188.4	37	c.134	CCDS1445.1	1	.	.	.	.	.	.	.	.	.	.	G	9.729	1.161681	0.21538	.	.	ENSG00000158615	ENST00000367188	T	0.20738	2.05	4.46	-7.42	0.01388	Protein phosphatase 1, regulatory subunit 15B, N-terminal (1);	3.927860	0.00763	N	0.001158	T	0.19208	0.0461	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.22347	-1.0219	10	0.44086	T	0.13	10.1231	9.5481	0.39293	0.2069:0.4819:0.3112:0.0	.	45	Q5SWA1	PR15B_HUMAN	C	45	ENSP00000356156:S45C	ENSP00000356156:S45C	S	-	2	0	PPP1R15B	202647029	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.130000	0.10498	-1.570000	0.01665	-2.589000	0.00165	TCC	PPP1R15B	-	pfam_Prot_Pase1_reg-su15B_N		0.632	PPP1R15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R15B	HGNC	protein_coding	OTTHUMT00000087974.1	G	NM_032833		204380406	-1	no_errors	ENST00000367188	ensembl	human	known	70_37	missense	SNP	0.000	C
PRPF40B	25766	genome.wustl.edu	37	12	50027802	50027802	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr12:50027802G>A	ENST00000380281.1	+	9	737	c.673G>A	c.(673-675)Gat>Aat	p.D225N	PRPF40B_ENST00000548825.2_Missense_Mutation_p.D247N|PRPF40B_ENST00000261897.1_Missense_Mutation_p.D219N			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	225					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)		p.D225N(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TGGGAGTGAAGATTGTGATGT	0.677																																																	1	Substitution - Missense(1)	cervix(1)											52.0	60.0	57.0					12																	50027802		2203	4300	6503	SO:0001583	missense	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.673G>A	12.37:g.50027802G>A	ENSP00000369634:p.Asp225Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.D225N	ENST00000380281.1	37	c.673		12	.	.	.	.	.	.	.	.	.	.	G	7.530	0.658418	0.14645	.	.	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.22743	1.95;1.94	4.76	4.76	0.60689	.	0.330357	0.26457	N	0.024273	T	0.16428	0.0395	N	0.08118	0	0.32701	N	0.512869	P;P;P	0.44659	0.753;0.84;0.84	B;P;P	0.49451	0.407;0.611;0.611	T	0.08006	-1.0743	9	.	.	.	-17.6521	13.4488	0.61158	0.0:0.0:1.0:0.0	.	225;219;225	Q6NWY9;Q6NWY9-2;Q6NWY9-3	PR40B_HUMAN;.;.	N	219;225	ENSP00000261897:D219N;ENSP00000369634:D225N	.	D	+	1	0	PRPF40B	48314069	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	5.008000	0.63991	2.641000	0.89580	0.655000	0.94253	GAT	PRPF40B	-	NULL		0.677	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1	G	NM_012272		50027802	+1	no_errors	ENST00000380281	ensembl	human	known	70_37	missense	SNP	1.000	A
PRPS2	5634	genome.wustl.edu	37	X	12828219	12828219	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chrX:12828219T>A	ENST00000380668.5	+	4	612	c.484T>A	c.(484-486)Tgg>Agg	p.W162R	PRPS2_ENST00000398491.2_Missense_Mutation_p.W165R|PRPS2_ENST00000489404.1_Missense_Mutation_p.W162R	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	162					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|AMP biosynthetic process (GO:0006167)|nucleobase-containing compound metabolic process (GO:0006139)|organ regeneration (GO:0031100)	extracellular vesicular exosome (GO:0070062)|ribose phosphate diphosphokinase complex (GO:0002189)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|carbohydrate binding (GO:0030246)|GDP binding (GO:0019003)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)	p.W162R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						CATTGCCGAGTGGAAGAACTG	0.473																																																	1	Substitution - Missense(1)	cervix(1)											118.0	100.0	106.0					X																	12828219		2203	4300	6503	SO:0001583	missense	5634			Y00971	CCDS14150.1, CCDS43918.1	Xp22.2	2012-10-02			ENSG00000101911	ENSG00000101911	2.7.6.1		9465	protein-coding gene	gene with protein product	"""PRS II"", ""ribose-phosphate diphosphokinase 2"""	311860				1962753	Standard	NM_002765		Approved		uc004cva.3	P11908	OTTHUMG00000021139	ENST00000380668.5:c.484T>A	X.37:g.12828219T>A	ENSP00000370043:p.Trp162Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VDH9|Q0VDI0|Q15245|Q2TAK7	Missense_Mutation	SNP	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase	p.W165R	ENST00000380668.5	37	c.493	CCDS14150.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.79|13.79	2.341839|2.341839	0.41498|0.41498	.|.	.|.	ENSG00000101911|ENSG00000101911	ENST00000380663|ENST00000380668;ENST00000398491;ENST00000489404;ENST00000461630;ENST00000460220	D|D;D;D;D	0.94232|0.94457	-3.38|-2.77;-2.77;-3.43;-2.18	4.91|4.91	4.91|4.91	0.64330|0.64330	.|Phosphoribosyltransferase (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.96349|0.96349	0.8809|0.8809	M|M	0.69185|0.69185	2.1|2.1	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.999	.|D;D	.|0.79108	.|0.992;0.987	D|D	0.95741|0.95741	0.8783|0.8783	7|10	0.87932|0.38643	D|T	0|0.18	-15.8402|-15.8402	14.0079|14.0079	0.64475|0.64475	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|162;165	.|P11908;P11908-2	.|PRPS2_HUMAN;.	E|R	141|162;165;162;75;52	ENSP00000370038:V141E|ENSP00000370043:W162R;ENSP00000381504:W165R;ENSP00000419380:W162R;ENSP00000418911:W75R	ENSP00000370038:V141E|ENSP00000370043:W162R	V|W	+|+	2|1	0|0	PRPS2|PRPS2	12738140|12738140	1.000000|1.000000	0.71417|0.71417	0.942000|0.942000	0.38095|0.38095	0.689000|0.689000	0.40095|0.40095	7.538000|7.538000	0.82048|0.82048	1.754000|1.754000	0.51921|0.51921	0.483000|0.483000	0.47432|0.47432	GTG|TGG	PRPS2	-	pfam_PRibTrfase_dom,tigrfam_Rib-P_diPkinase		0.473	PRPS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRPS2	HGNC	protein_coding	OTTHUMT00000055772.2	T	NM_002765		12828219	+1	no_errors	ENST00000398491	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPRM	5797	genome.wustl.edu	37	18	8253378	8253378	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr18:8253378G>A	ENST00000332175.8	+	17	3718	c.2681G>A	c.(2680-2682)tGt>tAt	p.C894Y	PTPRM_ENST00000400053.4_Missense_Mutation_p.C832Y|PTPRM_ENST00000444013.1_Missense_Mutation_p.C681Y|PTPRM_ENST00000400060.4_Missense_Mutation_p.C908Y|PTPRM_ENST00000580170.1_Missense_Mutation_p.C907Y	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	894					homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.C894Y(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CAGATGAAGTGTGCGGAGGGC	0.587																																																	1	Substitution - Missense(1)	cervix(1)											47.0	34.0	38.0					18																	8253378		2203	4300	6503	SO:0001583	missense	5797			X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.2681G>A	18.37:g.8253378G>A	ENSP00000331418:p.Cys894Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.C908Y	ENST00000332175.8	37	c.2723	CCDS11840.1	18	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560446	0.65538	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053;ENST00000444013	T;T;T;T	0.27557	1.66;1.66;1.66;1.66	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.47322	0.1439	M	0.64997	1.995	0.80722	D	1	D;D;D	0.63880	0.967;0.993;0.993	P;P;P	0.51742	0.497;0.678;0.678	T	0.42582	-0.9443	10	0.72032	D	0.01	.	20.328	0.98708	0.0:0.0:1.0:0.0	.	681;907;894	E7EVX9;A7MBN1;P28827	.;.;PTPRM_HUMAN	Y	894;908;832;681	ENSP00000331418:C894Y;ENSP00000382933:C908Y;ENSP00000382927:C832Y;ENSP00000387608:C681Y	ENSP00000331418:C894Y	C	+	2	0	PTPRM	8243378	1.000000	0.71417	0.981000	0.43875	0.988000	0.76386	6.541000	0.73865	2.802000	0.96397	0.561000	0.74099	TGT	PTPRM	-	NULL		0.587	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRM	HGNC	protein_coding	OTTHUMT00000254456.1	G			8253378	+1	no_errors	ENST00000400060	ensembl	human	known	70_37	missense	SNP	1.000	A
RWDD2A	112611	genome.wustl.edu	37	6	83904315	83904315	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr6:83904315G>A	ENST00000369724.4	+	2	350	c.145G>A	c.(145-147)Gag>Aag	p.E49K	PGM3_ENST00000513973.1_5'Flank|RWDD2A_ENST00000539997.1_5'UTR|PGM3_ENST00000512866.1_5'Flank|PGM3_ENST00000283977.4_5'Flank|PGM3_ENST00000506587.1_5'Flank	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	49	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.							p.E49K(1)		cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		AGGCACAAGGGAGGCGCTGCC	0.413																																																	1	Substitution - Missense(1)	cervix(1)											99.0	98.0	98.0					6																	83904315		2203	4300	6503	SO:0001583	missense	112611			BC010930	CCDS4998.1	6q15	2012-12-07	2007-07-17	2007-07-17	ENSG00000013392	ENSG00000013392			21385	protein-coding gene	gene with protein product			"""RWD domain containing 2"""	RWDD2			Standard	NM_033411		Approved	MGC13523, dJ747H23.2	uc003pjx.4	Q9UIY3	OTTHUMG00000015109	ENST00000369724.4:c.145G>A	6.37:g.83904315G>A	ENSP00000358739:p.Glu49Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIQ3|E1P548|Q2M3R3|Q96FH1	Missense_Mutation	SNP	pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain	p.E49K	ENST00000369724.4	37	c.145	CCDS4998.1	6	.	.	.	.	.	.	.	.	.	.	G	16.30	3.085143	0.55861	.	.	ENSG00000013392	ENST00000369724	T	0.21543	2.0	5.17	5.17	0.71159	Ubiquitin-conjugating enzyme/RWD-like (2);RWD domain (3);	0.243794	0.35407	N	0.003232	T	0.07503	0.0189	L	0.29908	0.895	0.80722	D	1	B	0.12630	0.006	B	0.15052	0.012	T	0.10451	-1.0629	10	0.09590	T	0.72	-24.9954	17.8527	0.88752	0.0:0.0:1.0:0.0	.	49	Q9UIY3	RWD2A_HUMAN	K	49	ENSP00000358739:E49K	ENSP00000358739:E49K	E	+	1	0	RWDD2A	83961034	0.999000	0.42202	0.990000	0.47175	0.805000	0.45488	3.657000	0.54474	2.683000	0.91414	0.655000	0.94253	GAG	RWDD2A	-	pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain		0.413	RWDD2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RWDD2A	HGNC	protein_coding	OTTHUMT00000041348.2	G	NM_033411		83904315	+1	no_errors	ENST00000369724	ensembl	human	known	70_37	missense	SNP	0.675	A
SFXN5	94097	genome.wustl.edu	37	2	73285676	73285676	+	Missense_Mutation	SNP	C	C	T	rs373206510		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr2:73285676C>T	ENST00000272433.2	-	2	282	c.152G>A	c.(151-153)cGc>cAc	p.R51H	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Missense_Mutation_p.R51H	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	51					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)|citrate transmembrane transporter activity (GO:0015137)	p.R51H(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						AAAGAGTGTGCGAGGGTCGAT	0.507																																																	1	Substitution - Missense(1)	cervix(1)						C	HIS/ARG	0,4406		0,0,2203	144.0	123.0	130.0		152	4.7	1.0	2		130	1,8599	1.2+/-3.3	0,1,4299	no	missense	SFXN5	NM_144579.2	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	51/341	73285676	1,13005	2203	4300	6503	SO:0001583	missense	94097			AY044437	CCDS1922.1	2p13	2008-05-21			ENSG00000144040	ENSG00000144040		"""Sideroflexins"""	16073	protein-coding gene	gene with protein product		615572				12039050, 12150972	Standard	XM_005264648		Approved	BBG-TCC	uc002siq.3	Q8TD22	OTTHUMG00000129775	ENST00000272433.2:c.152G>A	2.37:g.73285676C>T	ENSP00000272433:p.Arg51His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K116|Q494Y3|Q53T29	Missense_Mutation	SNP	pfam_Mtc,tigrfam_Mtc	p.R51H	ENST00000272433.2	37	c.152	CCDS1922.1	2	.	.	.	.	.	.	.	.	.	.	C	16.47	3.132252	0.56828	0.0	1.16E-4	ENSG00000144040	ENST00000272433;ENST00000410065;ENST00000442582	T;T;T	0.32272	1.46;1.46;1.46	4.69	4.69	0.59074	.	0.219310	0.47852	D	0.000209	T	0.59865	0.2225	M	0.89601	3.045	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.72075	0.976;0.954	T	0.64024	-0.6504	10	0.33940	T	0.23	-12.2938	13.5093	0.61502	0.0:1.0:0.0:0.0	.	51;51	B8ZZJ6;Q8TD22	.;SFXN5_HUMAN	H	51	ENSP00000272433:R51H;ENSP00000387076:R51H;ENSP00000396825:R51H	ENSP00000272433:R51H	R	-	2	0	SFXN5	73139184	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.119000	0.64679	2.328000	0.79073	0.462000	0.41574	CGC	SFXN5	-	pfam_Mtc,tigrfam_Mtc		0.507	SFXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN5	HGNC	protein_coding	OTTHUMT00000251991.1	C	NM_144579		73285676	-1	no_errors	ENST00000272433	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC19A3	80704	genome.wustl.edu	37	2	228564076	228564076	+	Missense_Mutation	SNP	C	C	T	rs367620430		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr2:228564076C>T	ENST00000258403.3	-	3	426	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	SLC19A3_ENST00000409287.1_Intron|SLC19A3_ENST00000541617.1_Missense_Mutation_p.A115T	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	119					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.A119T(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCCACCTCGGCGGCGGTGACC	0.567																																																	1	Substitution - Missense(1)	cervix(1)						C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	89.0	90.0	90.0		355	3.4	1.0	2		90	0,8600		0,0,4300	no	missense	SLC19A3	NM_025243.3	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	119/497	228564076	1,13005	2203	4300	6503	SO:0001583	missense	80704			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.355G>A	2.37:g.228564076C>T	ENSP00000258403:p.Ala119Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.A119T	ENST00000258403.3	37	c.355	CCDS2468.1	2	.	.	.	.	.	.	.	.	.	.	C	1.632	-0.518800	0.04171	2.27E-4	0.0	ENSG00000135917	ENST00000258403;ENST00000541617;ENST00000456524	D;D;D	0.87650	-2.28;-2.28;-2.28	5.8	3.42	0.39159	Major facilitator superfamily domain, general substrate transporter (1);	0.288710	0.41500	N	0.000877	T	0.60196	0.2250	N	0.01631	-0.79	0.26232	N	0.979004	B;B	0.11235	0.004;0.001	B;B	0.06405	0.001;0.002	T	0.54309	-0.8313	10	0.02654	T	1	-29.288	5.4983	0.16815	0.127:0.1363:0.0:0.7367	.	115;119	F5H2M8;Q9BZV2	.;S19A3_HUMAN	T	119;115;119	ENSP00000258403:A119T;ENSP00000445519:A115T;ENSP00000399001:A119T	ENSP00000258403:A119T	A	-	1	0	SLC19A3	228272320	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	1.021000	0.30040	0.470000	0.27294	-1.004000	0.02495	GCC	SLC19A3	-	pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier		0.567	SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A3	HGNC	protein_coding	OTTHUMT00000256894.1	C			228564076	-1	no_errors	ENST00000258403	ensembl	human	known	70_37	missense	SNP	0.988	T
SLITRK3	22865	genome.wustl.edu	37	3	164907457	164907457	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr3:164907457A>C	ENST00000475390.1	-	2	1605	c.1162T>G	c.(1162-1164)Ttg>Gtg	p.L388V	SLITRK3_ENST00000241274.3_Missense_Mutation_p.L388V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	388	LRRNT.				axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.L388V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGACAGTCAAGCCAAGGTCA	0.448										HNSCC(40;0.11)																																							1	Substitution - Missense(1)	cervix(1)											159.0	159.0	159.0					3																	164907457		2203	4300	6503	SO:0001583	missense	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1162T>G	3.37:g.164907457A>C	ENSP00000420091:p.Leu388Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q1RMY6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L388V	ENST00000475390.1	37	c.1162	CCDS3197.1	3	.	.	.	.	.	.	.	.	.	.	A	14.94	2.686436	0.47991	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.51574	0.7;0.7	5.58	5.58	0.84498	Leucine-rich repeat-containing N-terminal (1);	0.000000	0.31210	N	0.008051	T	0.40791	0.1131	L	0.42744	1.35	0.47698	D	0.999492	P	0.51791	0.948	B	0.43701	0.428	T	0.39781	-0.9597	10	0.59425	D	0.04	-10.2327	8.2027	0.31434	0.8869:0.0:0.1131:0.0	.	388	O94933	SLIK3_HUMAN	V	388	ENSP00000420091:L388V;ENSP00000241274:L388V	ENSP00000241274:L388V	L	-	1	2	SLITRK3	166390151	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.068000	0.41471	2.343000	0.79666	0.533000	0.62120	TTG	SLITRK3	-	NULL		0.448	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	A	NM_014926		164907457	-1	no_errors	ENST00000241274	ensembl	human	known	70_37	missense	SNP	1.000	C
SRRM3	222183	genome.wustl.edu	37	7	75896635	75896635	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr7:75896635G>A	ENST00000326382.8	+	11	1097	c.890G>A	c.(889-891)aGc>aAc	p.S297N	SRRM3_ENST00000464752.1_3'UTR|SRRM3_ENST00000388802.4_Missense_Mutation_p.S297N	NM_001110199.1	NP_001103669.1	A6NNA2	SRRM3_HUMAN	serine/arginine repetitive matrix 3	297	Arg-rich.|Ser-rich.							p.S297N(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						TCCAGCGGAAGCCGGTCGCCT	0.756																																																	1	Substitution - Missense(1)	cervix(1)											7.0	9.0	9.0					7																	75896635		1413	3326	4739	SO:0001583	missense	222183			AK092590		7q11.23	2014-02-12			ENSG00000177679	ENSG00000177679			26729	protein-coding gene	gene with protein product							Standard	NM_001291831		Approved	FLJ37078	uc010ldi.2	A6NNA2	OTTHUMG00000130489	ENST00000326382.8:c.890G>A	7.37:g.75896635G>A	ENSP00000325298:p.Ser297Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND75	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.S297N	ENST00000326382.8	37	c.890		7	.	.	.	.	.	.	.	.	.	.	G	18.44	3.624523	0.66901	.	.	ENSG00000177679	ENST00000388802;ENST00000326382	T	0.02525	4.26	3.96	3.96	0.45880	.	0.509864	0.17688	N	0.165379	T	0.09686	0.0238	L	0.53249	1.67	0.35518	D	0.801191	D	0.57899	0.981	D	0.65140	0.932	T	0.42241	-0.9463	10	0.18710	T	0.47	-4.8593	14.5831	0.68305	0.0:0.0:1.0:0.0	.	297	A6NNA2	SRRM3_HUMAN	N	297	ENSP00000373454:S297N	ENSP00000325298:S297N	S	+	2	0	SRRM3	75734571	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.735000	0.68587	1.746000	0.51805	0.400000	0.26472	AGC	SRRM3	-	NULL		0.756	SRRM3-001	KNOWN	basic	protein_coding	SRRM3	HGNC	protein_coding	OTTHUMT00000252889.2	G	NM_001110199		75896635	+1	no_errors	ENST00000388802	ensembl	human	known	70_37	missense	SNP	1.000	A
ST18	9705	genome.wustl.edu	37	8	53092776	53092776	+	Silent	SNP	G	G	C			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr8:53092776G>C	ENST00000276480.7	-	9	866	c.183C>G	c.(181-183)ccC>ccG	p.P61P		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	61					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.P61P(1)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTAGTGTCGGGGCTTCATTA	0.517																																																	1	Substitution - coding silent(1)	cervix(1)											251.0	213.0	226.0					8																	53092776		2203	4300	6503	SO:0001819	synonymous_variant	9705			AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.183C>G	8.37:g.53092776G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RY1	Silent	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.P61	ENST00000276480.7	37	c.183	CCDS6149.1	8																																																																																			ST18	-	NULL		0.517	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST18	HGNC	protein_coding	OTTHUMT00000377867.1	G			53092776	-1	no_errors	ENST00000276480	ensembl	human	known	70_37	silent	SNP	1.000	C
TCEB3CL	728929	genome.wustl.edu	37	18	44549194	44549194	+	Missense_Mutation	SNP	C	C	T	rs75431623	byFrequency	TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr18:44549194C>T	ENST00000451265.1	-	1	1340	c.1105G>A	c.(1105-1107)Ggg>Agg	p.G369R	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_001100817.1	NP_001094287.1	Q3SY89	EA3L1_HUMAN	transcription elongation factor B polypeptide 3C-like	369	Activation domain. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|lung(1)|prostate(1)	3						GGCGTCCACCCTTCCAGAACG	0.597																																																	0													260.0	221.0	234.0					18																	44549194		1740	3470	5210	SO:0001583	missense	728929					18q21.1	2007-07-10				ENSG00000275553			31007	protein-coding gene	gene with protein product							Standard	NM_001100817		Approved	HsT828		Q3SY89		ENST00000451265.1:c.1105G>A	18.37:g.44549194C>T	ENSP00000409932:p.Gly369Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MI93	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.G369R	ENST00000451265.1	37	c.1105	CCDS42433.1	18	.	.	.	.	.	.	.	.	.	.	C	1.402	-0.577902	0.03854	.	.	ENSG00000234298	ENST00000451265	T	0.26810	1.71	1.5	-2.94	0.05581	.	2.886880	0.02063	N	0.050960	T	0.08802	0.0218	N	0.03071	-0.42	0.09310	N	1	B	0.12013	0.005	B	0.14578	0.011	T	0.18116	-1.0347	10	0.07030	T	0.85	-0.4334	3.6432	0.08174	0.0:0.2333:0.2072:0.5595	.	369	Q3SY89	EA3L1_HUMAN	R	369	ENSP00000409932:G369R	ENSP00000409932:G369R	G	-	1	0	TCEB3CL	42803192	0.656000	0.27385	0.000000	0.03702	0.001000	0.01503	0.147000	0.16202	-0.896000	0.03915	0.556000	0.70494	GGG	TCEB3CL	-	pfam_RNA_pol_II_trans_fac_SIII_A		0.597	TCEB3CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3CL	HGNC	protein_coding	OTTHUMT00000451071.1	C	XM_001132059		44549194	-1	no_errors	ENST00000451265	ensembl	human	known	70_37	missense	SNP	0.001	T
TEAD2	8463	genome.wustl.edu	37	19	49850490	49850490	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr19:49850490T>C	ENST00000311227.2	-	9	956	c.866A>G	c.(865-867)tAt>tGt	p.Y289C	TEAD2_ENST00000539846.1_Missense_Mutation_p.Y161C|TEAD2_ENST00000598397.1_5'UTR|TEAD2_ENST00000598810.1_Missense_Mutation_p.Y293C|TEAD2_ENST00000377214.4_Missense_Mutation_p.Y292C|TEAD2_ENST00000601519.1_Missense_Mutation_p.Y292C|TEAD2_ENST00000593945.1_Missense_Mutation_p.Y293C	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	289	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Y289C(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GCCACGATCATATAGCTCTCG	0.572																																																	1	Substitution - Missense(1)	cervix(1)											138.0	151.0	147.0					19																	49850490		2203	4300	6503	SO:0001583	missense	8463			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.866A>G	19.37:g.49850490T>C	ENSP00000310701:p.Tyr289Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.Y289C	ENST00000311227.2	37	c.866	CCDS12761.1	19	.	.	.	.	.	.	.	.	.	.	T	11.52	1.662814	0.29515	.	.	ENSG00000074219	ENST00000311227;ENST00000377214;ENST00000539846	T;T;T	0.37058	1.22;1.22;1.22	5.03	2.8	0.32819	.	0.000000	0.64402	D	0.000020	T	0.54481	0.1861	M	0.76938	2.355	0.47819	D	0.99952	B;D;B	0.89917	0.006;1.0;0.003	B;D;B	0.79108	0.017;0.992;0.017	T	0.55016	-0.8206	10	0.87932	D	0	-9.7257	6.1657	0.20388	0.1436:0.0856:0.0:0.7709	.	161;289;292	B4DTJ6;Q15562;Q8NA25	.;TEAD2_HUMAN;.	C	289;292;161	ENSP00000310701:Y289C;ENSP00000366419:Y292C;ENSP00000437928:Y161C	ENSP00000310701:Y289C	Y	-	2	0	TEAD2	54542302	0.934000	0.31675	0.989000	0.46669	0.037000	0.13140	0.836000	0.27545	0.881000	0.35993	-0.290000	0.09829	TAT	TEAD2	-	pfam_TEA/ATTS,pirsf_TEF		0.572	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TEAD2	HGNC	protein_coding	OTTHUMT00000465465.1	T	NM_003598		49850490	-1	no_errors	ENST00000311227	ensembl	human	known	70_37	missense	SNP	0.998	C
TENM1	10178	genome.wustl.edu	37	X	123525989	123525989	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chrX:123525989A>T	ENST00000371130.3	-	27	5643	c.5580T>A	c.(5578-5580)aaT>aaA	p.N1860K	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.N1867K	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1860					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.N1862K(1)									CCATTTTTTCATTCCACGTTC	0.393																																																	1	Substitution - Missense(1)	cervix(1)											95.0	76.0	82.0					X																	123525989		2203	4299	6502	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.5580T>A	X.37:g.123525989A>T	ENSP00000360171:p.Asn1860Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.N1867K	ENST00000371130.3	37	c.5601	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	A	13.36	2.214487	0.39102	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.84589	-1.87;-1.83	5.28	4.04	0.47022	.	0.103365	0.64402	D	0.000003	T	0.72779	0.3503	L	0.29908	0.895	0.34339	D	0.688524	B;B;B	0.24368	0.039;0.039;0.102	B;B;B	0.18263	0.01;0.01;0.021	T	0.71563	-0.4555	10	0.25106	T	0.35	.	6.6965	0.23201	0.6913:0.1558:0.0:0.1529	.	1866;1867;1860	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	K	1860;1867	ENSP00000360171:N1860K;ENSP00000403954:N1867K	ENSP00000360171:N1860K	N	-	3	2	ODZ1	123353670	0.975000	0.34042	1.000000	0.80357	0.983000	0.72400	0.320000	0.19540	1.765000	0.52091	0.486000	0.48141	AAT	TENM1	-	tigrfam_YD		0.393	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	A	NM_014253		123525989	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	0.999	T
TMEFF2	23671	genome.wustl.edu	37	2	193059224	193059224	+	Silent	SNP	C	C	T			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr2:193059224C>T	ENST00000272771.5	-	1	1211	c.27G>A	c.(25-27)caG>caA	p.Q9Q	TMEFF2_ENST00000409056.3_Silent_p.Q9Q|TMEFF2_ENST00000392314.1_Silent_p.Q9Q	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	9						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.Q9Q(1)		breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AGCTGCTGCACTGCCGCGGGG	0.637																																					Pancreas(50;1277 1381 28487 47072)												1	Substitution - coding silent(1)	cervix(1)											30.0	34.0	32.0					2																	193059224		2200	4291	6491	SO:0001819	synonymous_variant	23671			AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.27G>A	2.37:g.193059224C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Silent	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,pfscan_EG-like_dom	p.Q9	ENST00000272771.5	37	c.27	CCDS2314.1	2																																																																																			TMEFF2	-	NULL		0.637	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEFF2	HGNC	protein_coding	OTTHUMT00000256065.2	C	NM_016192		193059224	-1	no_errors	ENST00000272771	ensembl	human	known	70_37	silent	SNP	1.000	T
TMEM132A	54972	genome.wustl.edu	37	11	60703567	60703567	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr11:60703567C>T	ENST00000453848.2	+	11	2418	c.2260C>T	c.(2260-2262)Cgt>Tgt	p.R754C	TMEM132A_ENST00000005286.4_Missense_Mutation_p.R755C			Q24JP5	T132A_HUMAN	transmembrane protein 132A	754	Binds to HSPA5/GRP78. {ECO:0000250}.|Confers cellular localization similar to full-length form. {ECO:0000250}.					endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.R755C(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGGCCGCCACCGTGTGCCTCT	0.756																																																	2	Substitution - Missense(2)	cervix(2)											11.0	14.0	13.0					11																	60703567		2179	4225	6404	SO:0001583	missense	54972			AK000546	CCDS7997.1, CCDS44618.1	11q12.2	2006-03-02	2006-03-02	2006-03-02	ENSG00000006118	ENSG00000006118			31092	protein-coding gene	gene with protein product			"""heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa) binding protein 1"""	HSPA5BP1		12514190, 10997877	Standard	NM_017870		Approved	GBP, FLJ20539	uc001nqi.3	Q24JP5	OTTHUMG00000167803	ENST00000453848.2:c.2260C>T	11.37:g.60703567C>T	ENSP00000405823:p.Arg754Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YU7|Q86VZ8|Q86W97|Q9H8K3|Q9HCI9|Q9NWY0	Missense_Mutation	SNP	NULL	p.R755C	ENST00000453848.2	37	c.2263	CCDS44618.1	11	.	.	.	.	.	.	.	.	.	.	C	18.28	3.589659	0.66105	.	.	ENSG00000006118	ENST00000444690;ENST00000453848;ENST00000005286	T;T	0.14640	2.49;2.49	5.25	5.25	0.73442	.	0.374894	0.25935	N	0.027350	T	0.30978	0.0782	L	0.55481	1.735	0.48288	D	0.999622	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.00870	-1.1533	10	0.87932	D	0	.	11.8108	0.52181	0.1751:0.8249:0.0:0.0	.	754;755	Q24JP5;Q24JP5-2	T132A_HUMAN;.	C	505;754;755	ENSP00000405823:R754C;ENSP00000005286:R755C	ENSP00000005286:R755C	R	+	1	0	TMEM132A	60460143	0.000000	0.05858	1.000000	0.80357	0.991000	0.79684	0.229000	0.17833	2.620000	0.88729	0.561000	0.74099	CGT	TMEM132A	-	NULL		0.756	TMEM132A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	TMEM132A	HGNC	protein_coding	OTTHUMT00000396352.1	C	NM_017870		60703567	+1	no_errors	ENST00000005286	ensembl	human	known	70_37	missense	SNP	1.000	T
FPGT-TNNI3K	100526835	genome.wustl.edu	37	1	74835136	74835136	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:74835136A>G	ENST00000370899.3	+	18	1874	c.1837A>G	c.(1837-1839)Att>Gtt	p.I613V	FPGT-TNNI3K_ENST00000370895.1_Missense_Mutation_p.I613V|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.I626V|TNNI3K_ENST00000326637.3_Missense_Mutation_p.I512V|RP11-439H8.4_ENST00000415549.2_RNA|TNNI3K_ENST00000370891.2_Missense_Mutation_p.I613V	NM_001199327.1	NP_001186256			FPGT-TNNI3K readthrough									p.I512V(1)									AGAGGTGTCCATTCTCTGCCA	0.458																																																	1	Substitution - Missense(1)	cervix(1)											221.0	192.0	202.0					1																	74835136		2203	4300	6503	SO:0001583	missense	51086					1p31.3	2014-03-14			ENSG00000259030	ENSG00000259030			42952	other	readthrough							Standard	NM_001112808		Approved		uc001dge.2		OTTHUMG00000166281	ENST00000370899.3:c.1837A>G	1.37:g.74835136A>G	ENSP00000359936:p.Ile613Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.I613V	ENST00000370899.3	37	c.1837		1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.716428	0.89205	.	.	ENSG00000259030;ENSG00000259030;ENSG00000259030;ENSG00000116783;ENSG00000116783;ENSG00000116783	ENST00000370899;ENST00000370895;ENST00000557284;ENST00000370891;ENST00000326637;ENST00000534020	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.27	5.27	0.74061	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.38983	0.1061	L	0.31476	0.935	0.53688	D	0.999974	D;D;D;P	0.69078	0.997;0.996;0.996;0.876	D;D;D;D	0.80764	0.994;0.99;0.99;0.927	T	0.43605	-0.9381	10	0.87932	D	0	.	15.1862	0.73002	1.0:0.0:0.0:0.0	.	512;613;613;613	Q59H18;Q59H18-1;Q59H18-4;Q59H18-3	TNI3K_HUMAN;.;.;.	V	613;613;613;613;512;36	ENSP00000359936:I613V;ENSP00000359932:I613V;ENSP00000450895:I613V;ENSP00000359928:I613V;ENSP00000322251:I512V;ENSP00000434975:I36V	ENSP00000322251:I512V	I	+	1	0	RP11-653A5.2;AC093158.1	74607724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.817000	0.75252	1.982000	0.57802	0.459000	0.35465	ATT	TNNI3K	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.458	FPGT-TNNI3K-003	NOVEL	basic|appris_candidate|readthrough_transcript|exp_conf	protein_coding	TNNI3K	HGNC	protein_coding	OTTHUMT00000026438.3	A			74835136	+1	no_errors	ENST00000370891	ensembl	human	known	70_37	missense	SNP	1.000	G
TRIM42	287015	genome.wustl.edu	37	3	140401821	140401821	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr3:140401821G>A	ENST00000286349.3	+	2	1050	c.859G>A	c.(859-861)Gag>Aag	p.E287K		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	287						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E287K(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GGAACAGGACGAGAAGATCTG	0.557																																																	1	Substitution - Missense(1)	cervix(1)											222.0	185.0	198.0					3																	140401821		2203	4300	6503	SO:0001583	missense	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.859G>A	3.37:g.140401821G>A	ENSP00000286349:p.Glu287Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.E287K	ENST00000286349.3	37	c.859	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960504	0.74016	.	.	ENSG00000155890	ENST00000286349	T	0.47177	0.85	5.46	5.46	0.80206	Zinc finger, B-box (2);	0.098347	0.44902	D	0.000409	T	0.35364	0.0929	N	0.24115	0.695	0.36880	D	0.889347	D	0.58268	0.982	P	0.44518	0.452	T	0.23904	-1.0175	10	0.13108	T	0.6	-30.9908	14.805	0.69945	0.0:0.0:1.0:0.0	.	287	Q8IWZ5	TRI42_HUMAN	K	287	ENSP00000286349:E287K	ENSP00000286349:E287K	E	+	1	0	TRIM42	141884511	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	3.140000	0.50585	2.567000	0.86603	0.561000	0.74099	GAG	TRIM42	-	pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box		0.557	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	G	NM_152616		140401821	+1	no_errors	ENST00000286349	ensembl	human	known	70_37	missense	SNP	1.000	A
TRIM56	81844	genome.wustl.edu	37	7	100732123	100732123	+	Silent	SNP	C	C	T			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr7:100732123C>T	ENST00000306085.6	+	3	1827	c.1530C>T	c.(1528-1530)atC>atT	p.I510I		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	510					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I510I(2)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCCCCGGATCACCGGGCTCT	0.652																																					Ovarian(89;1092 1379 22756 38989 39611)												2	Substitution - coding silent(2)	cervix(2)											57.0	66.0	63.0					7																	100732123		2005	4162	6167	SO:0001819	synonymous_variant	81844			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1530C>T	7.37:g.100732123C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.I510	ENST00000306085.6	37	c.1530	CCDS43625.1	7																																																																																			TRIM56	-	NULL		0.652	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1	C	NM_030961		100732123	+1	no_errors	ENST00000306085	ensembl	human	known	70_37	silent	SNP	1.000	T
TRIM69	140691	genome.wustl.edu	37	15	45047237	45047237	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr15:45047237G>A	ENST00000559390.1	+	3	1074	c.146G>A	c.(145-147)cGa>cAa	p.R49Q	TRIM69_ENST00000558329.1_Intron|TRIM69_ENST00000558173.1_5'UTR|TRIM69_ENST00000329464.4_Missense_Mutation_p.R49Q|TRIM69_ENST00000338264.4_Intron|TRIM69_ENST00000560442.1_Intron|TRIM69_ENST00000561043.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	49	Necessary for nuclear localization. {ECO:0000250}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R49Q(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GATTGGTTCCGAGACCCACTG	0.448																																					Pancreas(84;519 1450 1802 20427 34706)												1	Substitution - Missense(1)	cervix(1)											158.0	131.0	140.0					15																	45047237		2198	4298	6496	SO:0001583	missense	140691			AF302088	CCDS10114.1, CCDS32220.1, CCDS73719.1	15q15-q21	2013-01-09	2011-01-25	2006-09-26	ENSG00000185880	ENSG00000185880		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	17857	protein-coding gene	gene with protein product			"""ring finger protein 36"", ""tripartite motif-containing 69"""	RNF36			Standard	XM_005254162		Approved	Trif, TRIMLESS	uc001zug.1	Q86WT6	OTTHUMG00000131246	ENST00000559390.1:c.146G>A	15.37:g.45047237G>A	ENSP00000453177:p.Arg49Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MX03|Q309B0|Q4G1A5|Q6W897|Q8IYY3|Q8WY16|Q8WY17	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.R49Q	ENST00000559390.1	37	c.146	CCDS32220.1	15	.	.	.	.	.	.	.	.	.	.	G	7.988	0.752743	0.15778	.	.	ENSG00000185880	ENST00000329464	T	0.06528	3.29	5.58	-1.45	0.08828	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.470276	0.19081	N	0.123248	T	0.03871	0.0109	L	0.31294	0.92	0.09310	N	1	P	0.44309	0.832	B	0.33521	0.165	T	0.41787	-0.9489	10	0.30854	T	0.27	.	12.1317	0.53946	0.5088:0.0:0.4912:0.0	.	49	Q86WT6	TRI69_HUMAN	Q	49	ENSP00000332284:R49Q	ENSP00000332284:R49Q	R	+	2	0	TRIM69	42834529	0.004000	0.15560	0.178000	0.23040	0.019000	0.09904	0.064000	0.14437	-0.381000	0.07882	-2.049000	0.00408	CGA	TRIM69	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.448	TRIM69-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM69	HGNC	protein_coding	OTTHUMT00000416171.1	G			45047237	+1	no_errors	ENST00000329464	ensembl	human	known	70_37	missense	SNP	0.000	A
TTN	7273	genome.wustl.edu	37	2	179440160	179440160	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr2:179440160A>T	ENST00000591111.1	-	276	66000	c.65776T>A	c.(65776-65778)Tat>Aat	p.Y21926N	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Y14627N|TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.Y23567N|TTN_ENST00000342992.6_Missense_Mutation_p.Y20999N|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Y14694N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.Y14502N|TTN-AS1_ENST00000438095.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21926	Fibronectin type-III 59. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Y20997N(1)|p.Y20999N(1)|p.Y14694N(1)|p.Y14627N(1)|p.Y14502N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAATCACATAGCCAGTGATC	0.493																																																	5	Substitution - Missense(5)	cervix(5)											160.0	157.0	158.0					2																	179440160		2044	4207	6251	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.65776T>A	2.37:g.179440160A>T	ENSP00000465570:p.Tyr21926Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.Y20999N	ENST00000591111.1	37	c.62995		2	.	.	.	.	.	.	.	.	.	.	A	13.41	2.230114	0.39399	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	5.6	5.6	0.85130	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.94535	0.8240	H	0.99582	4.64	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96991	0.9722	9	0.87932	D	0	.	15.7826	0.78272	1.0:0.0:0.0:0.0	.	14502;14627;14694;21926	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	20999;14502;14694;14627;14500	ENSP00000343764:Y20999N;ENSP00000434586:Y14502N;ENSP00000340554:Y14694N;ENSP00000352154:Y14627N	ENSP00000340554:Y14694N	Y	-	1	0	TTN	179148406	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.142000	0.66516	0.477000	0.44152	TAT	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.493	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179440160	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
VWA3A	146177	genome.wustl.edu	37	16	22126767	22126767	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr16:22126767T>G	ENST00000389398.5	+	9	885	c.789T>G	c.(787-789)gaT>gaG	p.D263E	VWA3A_ENST00000389397.4_De_novo_Start_OutOfFrame	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	263						extracellular region (GO:0005576)		p.D263E(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		AGGGACTGGATTCCCTGGTGG	0.478																																																	1	Substitution - Missense(1)	cervix(1)											36.0	38.0	37.0					16																	22126767		1939	4133	6072	SO:0001583	missense	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.789T>G	16.37:g.22126767T>G	ENSP00000374049:p.Asp263Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.D263E	ENST00000389398.5	37	c.789	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	T	10.35	1.325795	0.24080	.	.	ENSG00000175267	ENST00000310694;ENST00000389398	T	0.08008	3.14	5.51	3.22	0.36961	.	0.467400	0.21409	N	0.075001	T	0.07773	0.0195	N	0.25647	0.755	0.80722	D	1	B	0.32781	0.384	B	0.37731	0.257	T	0.30504	-0.9976	10	0.54805	T	0.06	.	9.168	0.37063	0.0:0.152:0.0:0.848	.	263	A6NCI4	VWA3A_HUMAN	E	163;263	ENSP00000374049:D263E	ENSP00000308827:D163E	D	+	3	2	VWA3A	22034268	1.000000	0.71417	0.996000	0.52242	0.219000	0.24729	1.652000	0.37313	0.361000	0.24292	0.486000	0.48141	GAT	VWA3A	-	NULL		0.478	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	T			22126767	+1	no_errors	ENST00000389398	ensembl	human	known	70_37	missense	SNP	1.000	G
ZCCHC11	23318	genome.wustl.edu	37	1	52891171	52891171	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr1:52891171A>C	ENST00000371544.3	-	29	4979	c.4717T>G	c.(4717-4719)Ttt>Gtt	p.F1573V	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.F1574V	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1573	Pro-rich.				cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.F1574V(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGTCCTCGAAAGCCTGGCTCT	0.428																																																	1	Substitution - Missense(1)	cervix(1)											51.0	51.0	51.0					1																	52891171		2203	4300	6503	SO:0001583	missense	23318			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.4717T>G	1.37:g.52891171A>C	ENSP00000360599:p.Phe1573Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC	p.F1574V	ENST00000371544.3	37	c.4720	CCDS30716.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.9|20.9	4.073300|4.073300	0.76415|0.76415	.|.	.|.	ENSG00000134744|ENSG00000134744	ENST00000257177;ENST00000371544|ENST00000528457	T;T|.	0.53857|.	0.6;0.61|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.609738|.	0.17024|.	N|.	0.189983|.	T|T	0.51415|0.51415	0.1673|0.1673	N|N	0.24115|0.24115	0.695|0.695	0.80722|0.80722	D|D	1|1	D|.	0.53151|.	0.958|.	P|.	0.47827|.	0.558|.	T|T	0.48043|0.48043	-0.9069|-0.9069	10|5	0.72032|.	D|.	0.01|.	.|.	14.4918|14.4918	0.67657|0.67657	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1573|.	Q5TAX3|.	TUT4_HUMAN|.	V|R	1574;1573|75	ENSP00000257177:F1574V;ENSP00000360599:F1573V|.	ENSP00000257177:F1574V|.	F|L	-|-	1|2	0|0	ZCCHC11|ZCCHC11	52663759|52663759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.875000|0.875000	0.50365|0.50365	5.463000|5.463000	0.66712|0.66712	2.025000|2.025000	0.59659|0.59659	0.254000|0.254000	0.18369|0.18369	TTT|CTT	ZCCHC11	-	NULL		0.428	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	HGNC	protein_coding	OTTHUMT00000022462.1	A	XM_038288		52891171	-1	no_errors	ENST00000257177	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF358	140467	genome.wustl.edu	37	19	7584342	7584342	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr19:7584342G>T	ENST00000597229.1	+	2	384	c.214G>T	c.(214-216)Gac>Tac	p.D72Y	CTD-2207O23.12_ENST00000599312.1_3'UTR|CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.D72Y	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	72					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D72Y(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GGAGGATCTGGACCCCGACGC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											57.0	62.0	60.0					19																	7584342		2203	4300	6503	SO:0001583	missense	140467			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.214G>T	19.37:g.7584342G>T	ENSP00000472305:p.Asp72Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BTM7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D72Y	ENST00000597229.1	37	c.214	CCDS32890.2	19	.	.	.	.	.	.	.	.	.	.	G	15.95	2.983567	0.53827	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.08720	3.06	4.12	1.99	0.26369	.	.	.	.	.	T	0.07188	0.0182	N	0.14661	0.345	0.09310	N	1	D	0.56035	0.974	P	0.49637	0.617	T	0.30563	-0.9974	9	0.56958	D	0.05	-4.057	5.7435	0.18108	0.2408:0.0:0.7592:0.0	.	72	Q9NW07	ZN358_HUMAN	Y	72	ENSP00000377873:D72Y	ENSP00000354703:D72Y	D	+	1	0	ZNF358	7490342	0.011000	0.17503	0.749000	0.31150	0.850000	0.48378	0.414000	0.21164	1.058000	0.40530	0.456000	0.33151	GAC	ZNF358	-	NULL		0.597	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	HGNC	protein_coding	OTTHUMT00000316747.1	G			7584342	+1	no_errors	ENST00000394341	ensembl	human	known	70_37	missense	SNP	0.088	T
ZNF37A	7587	genome.wustl.edu	37	10	38403718	38403718	+	Silent	SNP	C	C	T	rs149074366		TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr10:38403718C>T	ENST00000361085.5	+	5	396	c.51C>T	c.(49-51)ttC>ttT	p.F17F	ZNF37A_ENST00000479469.1_3'UTR|ZNF37A_ENST00000351773.3_Silent_p.F17F	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F17F(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CTGTGGGCTTCACTCAAGAGG	0.478																																																	2	Substitution - coding silent(2)	cervix(2)						C	,,	0,4406		0,0,2203	140.0	129.0	133.0		51,51,51	0.6	0.0	10	dbSNP_134	133	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF37A	NM_001007094.2,NM_001178101.1,NM_003421.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	17/562,17/562,17/562	38403718	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7587			X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.51C>T	10.37:g.38403718C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRQ3|D3DRZ3|Q96B88	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F17	ENST00000361085.5	37	c.51	CCDS31183.1	10																																																																																			ZNF37A	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.478	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF37A	HGNC	protein_coding	OTTHUMT00000047624.2	C	NM_003421		38403718	+1	no_errors	ENST00000351773	ensembl	human	known	70_37	silent	SNP	0.220	T
ZNF385A	25946	genome.wustl.edu	37	12	54764853	54764853	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr12:54764853G>A	ENST00000338010.5	-	6	745	c.692C>T	c.(691-693)gCc>gTc	p.A231V	ZNF385A_ENST00000551771.1_Missense_Mutation_p.A130V|ZNF385A_ENST00000394313.2_Missense_Mutation_p.A211V|ZNF385A_ENST00000552382.1_5'UTR|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000551109.1_Missense_Mutation_p.A211V|ZNF385A_ENST00000352268.6_Missense_Mutation_p.A150V|RP11-753H16.3_ENST00000550474.1_RNA|ZNF385A_ENST00000546970.1_Missense_Mutation_p.A211V	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	231	Necessary for binding to ITPR1, CEBPA and p53/TP53 mRNAs. {ECO:0000250}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.A211V(2)|p.A231V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						CCCACTTCGGGCCTCCAGAAT	0.602																																																	3	Substitution - Missense(3)	cervix(3)											61.0	68.0	66.0					12																	54764853		2203	4300	6503	SO:0001583	missense	25946			AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.692C>T	12.37:g.54764853G>A	ENSP00000338927:p.Ala231Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.A231V	ENST00000338010.5	37	c.692	CCDS44911.1	12	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952050	0.92660	.	.	ENSG00000161642	ENST00000551109;ENST00000352268;ENST00000394313;ENST00000338010;ENST00000546970;ENST00000551771;ENST00000546919;ENST00000549937	T;T;T;T;T;T;T;T	0.50813	0.91;0.73;0.91;0.91;0.91;0.75;0.91;0.91	3.46	3.46	0.39613	Zinc finger, U1-type (1);	0.000000	0.85682	D	0.000000	T	0.60392	0.2265	L	0.52573	1.65	0.80722	D	1	D;B;D;D	0.76494	0.999;0.069;0.999;0.999	D;B;D;D	0.83275	0.996;0.084;0.994;0.994	T	0.61496	-0.7051	10	0.48119	T	0.1	-9.8781	12.8088	0.57628	0.0:0.0:1.0:0.0	.	130;211;211;211	Q96PM9-2;F8VRY0;Q96PM9;F1T0F1	.;.;Z385A_HUMAN;.	V	211;150;211;231;211;130;211;239	ENSP00000449161:A211V;ENSP00000293385:A150V;ENSP00000377849:A211V;ENSP00000338927:A231V;ENSP00000446913:A211V;ENSP00000447162:A130V;ENSP00000448466:A211V;ENSP00000448567:A239V	ENSP00000338927:A231V	A	-	2	0	ZNF385A	53051120	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.030000	0.70903	1.937000	0.56155	0.491000	0.48974	GCC	ZNF385A	-	smart_Znf_U1		0.602	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385A	HGNC	protein_coding	OTTHUMT00000406162.1	G	NM_015481		54764853	-1	no_errors	ENST00000338010	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF91	7644	genome.wustl.edu	37	19	23542271	23542271	+	Silent	SNP	C	C	T	rs376791864	byFrequency	TCGA-EA-A1QT-01A-11D-A14W-08	TCGA-EA-A1QT-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9ee252b-040a-4066-ba74-a9927bcd3197	839cef74-9ae3-4b76-9b22-46281453831a	g.chr19:23542271C>T	ENST00000300619.7	-	4	3715	c.3510G>A	c.(3508-3510)gcG>gcA	p.A1170A	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Silent_p.A1138A	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1170					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.A1170A(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				gtgatccgcccgcctcggcct	0.468													C|||	3	0.000599042	0.0	0.0	5008	,	,		16383	0.0		0.001	False		,,,				2504	0.002																1	Substitution - coding silent(1)	cervix(1)											23.0	26.0	25.0					19																	23542271		2014	4169	6183	SO:0001819	synonymous_variant	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3510G>A	19.37:g.23542271C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E1|B7Z6G6	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A1170	ENST00000300619.7	37	c.3510	CCDS42541.1	19																																																																																			ZNF91	-	NULL		0.468	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	C	NM_003430		23542271	-1	no_errors	ENST00000300619	ensembl	human	known	70_37	silent	SNP	0.894	T
