#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	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_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	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_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_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_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
OR13J1	392309	genome.wustl.edu	37	9	35869479	35869479	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr9:35869479C>A	ENST00000377981.2	-	1	982	c.920G>T	c.(919-921)aGg>aTg	p.R307M		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	307						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCGACTCCTGCCCCACAC	0.597																																																	0								ENSG00000168828						51.0	47.0	49.0					9																	35869479		2203	4300	6503	OR13J1	SO:0001583	missense	0			-	HGNC		CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.920G>T	9.37:g.35869479C>A	ENSP00000367219:p.Arg307Met	Somatic	0	34	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	B2RN66|Q6IF20|Q96R40	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R307M	ENST00000377981.2	37	c.920	CCDS35011.1	9	.	.	.	.	.	.	.	.	.	.	C	13.14	2.148830	0.37923	.	.	ENSG00000168828	ENST00000377981	T	0.39406	1.08	4.25	3.3	0.37823	.	0.509432	0.18161	N	0.149783	T	0.40094	0.1103	M	0.77820	2.39	0.31060	N	0.714256	P	0.38642	0.641	B	0.34824	0.19	T	0.54463	-0.8290	10	0.72032	D	0.01	.	6.9229	0.24399	0.0:0.8664:0.0:0.1336	.	307	Q8NGT2	O13J1_HUMAN	M	307	ENSP00000367219:R307M	ENSP00000367219:R307M	R	-	2	0	OR13J1	35859479	0.007000	0.16637	0.726000	0.30738	0.029000	0.11900	1.181000	0.32017	1.295000	0.44724	0.650000	0.86243	AGG	-	NULL		0.597	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13J1	protein_coding	OTTHUMT00000052381.1	C		-		35869479	-1	no_errors	ENST00000377981	ensembl	human	known	74_37	missense	SNP	0.985	A
DSCAM	1826	genome.wustl.edu	37	21	41385063	41385063	+	Silent	SNP	C	C	G			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr21:41385063C>G	ENST00000400454.1	-	33	6414	c.5937G>C	c.(5935-5937)ctG>ctC	p.L1979L		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1979				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGCCTGTCCCAGCTCTGCTC	0.587																																					Melanoma(134;970 1778 1785 21664 32388)												0								ENSG00000171587						48.0	48.0	48.0					21																	41385063		1954	4150	6104	DSCAM	SO:0001819	synonymous_variant	0			-	HGNC	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5937G>C	21.37:g.41385063C>G		Somatic	0	56	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	33	45.00	O60468	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.L1979	ENST00000400454.1	37	c.5937	CCDS42929.1	21																																																																																			-	NULL		0.587	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	C	NM_001389	-		41385063	-1	no_errors	ENST00000400454	ensembl	human	known	74_37	silent	SNP	1.000	G
COL5A3	50509	genome.wustl.edu	37	19	10083634	10083634	+	Missense_Mutation	SNP	C	C	G			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr19:10083634C>G	ENST00000264828.3	-	51	3820	c.3735G>C	c.(3733-3735)aaG>aaC	p.K1245N		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1245	Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GGGGACCTTTCTTGCCTGGGG	0.597																																																	0								ENSG00000080573						41.0	33.0	36.0					19																	10083634		2203	4300	6503	COL5A3	SO:0001583	missense	0			-	HGNC	AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.3735G>C	19.37:g.10083634C>G	ENSP00000264828:p.Lys1245Asn	Somatic	0	79	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	66	25.00	Q9NZQ6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.K1245N	ENST00000264828.3	37	c.3735	CCDS12222.1	19	.	.	.	.	.	.	.	.	.	.	C	13.97	2.397330	0.42512	.	.	ENSG00000080573	ENST00000264828	D	0.96587	-4.06	4.73	2.56	0.30785	.	0.411149	0.23016	U	0.052917	D	0.92737	0.7691	N	0.16567	0.415	0.28697	N	0.904265	D	0.67145	0.996	P	0.53649	0.731	D	0.87248	0.2271	10	0.18710	T	0.47	.	9.194	0.37217	0.0:0.8186:0.0:0.1814	.	1245	P25940	CO5A3_HUMAN	N	1245	ENSP00000264828:K1245N	ENSP00000264828:K1245N	K	-	3	2	COL5A3	9944634	0.240000	0.23847	1.000000	0.80357	0.984000	0.73092	-0.176000	0.09811	0.587000	0.29643	0.561000	0.74099	AAG	-	NULL		0.597	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A3	protein_coding	OTTHUMT00000315788.1	C	NM_015719	-		10083634	-1	no_errors	ENST00000264828	ensembl	human	known	74_37	missense	SNP	1.000	G
UNC80	285175	genome.wustl.edu	37	2	210860130	210860130	+	Silent	SNP	C	C	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr2:210860130C>A	ENST00000439458.1	+	64	9668	c.9588C>A	c.(9586-9588)ctC>ctA	p.L3196L	UNC80_ENST00000272845.6_Silent_p.L3172L	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	3196					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						ACAGTCCACTCTCTGCCCAAC	0.498																																																	0								ENSG00000144406						162.0	151.0	154.0					2																	210860130		692	1591	2283	UNC80	SO:0001819	synonymous_variant	0			-	HGNC	AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.9588C>A	2.37:g.210860130C>A		Somatic	0	42	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L3196	ENST00000439458.1	37	c.9588	CCDS46504.1	2																																																																																			-	NULL		0.498	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	protein_coding		C	NM_182587	-		210860130	+1	no_errors	ENST00000439458	ensembl	human	known	74_37	silent	SNP	0.870	A
CHST1	8534	genome.wustl.edu	37	11	45671339	45671339	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr11:45671339C>T	ENST00000308064.2	-	4	1805	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	379					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		TGGGCCAGCACCTGCTGGCAG	0.662																																																	0								ENSG00000175264						46.0	49.0	48.0					11																	45671339		2202	4297	6499	CHST1	SO:0001583	missense	0			-	HGNC	U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.1135G>A	11.37:g.45671339C>T	ENSP00000309270:p.Val379Met	Somatic	0	91	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	57	30.49	D3DQP2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.V379M	ENST00000308064.2	37	c.1135	CCDS7913.1	11	.	.	.	.	.	.	.	.	.	.	C	13.67	2.306888	0.40795	.	.	ENSG00000175264	ENST00000308064	D	0.82711	-1.64	4.62	4.62	0.57501	Sulfotransferase domain (1);	0.139015	0.48767	D	0.000179	T	0.80824	0.4697	L	0.58428	1.81	0.37751	D	0.925979	B	0.33777	0.425	B	0.38020	0.263	T	0.81215	-0.1034	10	0.33141	T	0.24	-25.6381	12.5562	0.56254	0.1665:0.8335:0.0:0.0	.	379	O43916	CHST1_HUMAN	M	379	ENSP00000309270:V379M	ENSP00000309270:V379M	V	-	1	0	CHST1	45627915	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	4.607000	0.61133	2.099000	0.63709	0.313000	0.20887	GTG	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase		0.662	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST1	protein_coding	OTTHUMT00000390127.1	C	NM_003654	-		45671339	-1	no_errors	ENST00000308064	ensembl	human	known	74_37	missense	SNP	1.000	T
TRIM64C	646754	genome.wustl.edu	37	11	49080482	49080482	+	Silent	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr11:49080482C>T	ENST00000530230.1	-	1	182	c.183G>A	c.(181-183)aaG>aaA	p.K61K		NM_001206631.1	NP_001193560.1	A6NLI5	TR64C_HUMAN	tripartite motif containing 64C	61						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|stomach(1)	2						TGAAGTTGGGCTTCTCTGAGA	0.522																																																	0								ENSG00000214891																																			TRIM64C	SO:0001819	synonymous_variant	0			-	HGNC		CCDS73287.1	11p11.12	2014-04-02	2011-01-25		ENSG00000214891	ENSG00000214891		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	37148	protein-coding gene	gene with protein product			"""tripartite motif-containing 64C"""				Standard	NM_001206631		Approved		uc021qiy.1	A6NLI5	OTTHUMG00000166752	ENST00000530230.1:c.183G>A	11.37:g.49080482C>T		Somatic	1	141	0.70		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	129	8.51		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.K61	ENST00000530230.1	37	c.183		11																																																																																			-	NULL		0.522	TRIM64C-001	KNOWN	basic|appris_principal	protein_coding	TRIM64C	protein_coding	OTTHUMT00000391366.1	C		-		49080482	-1	no_errors	ENST00000530230	ensembl	human	known	74_37	silent	SNP	0.004	T
BAALC	79870	genome.wustl.edu	37	8	104210364	104210364	+	Intron	SNP	G	G	C			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr8:104210364G>C	ENST00000297574.6	+	2	299				BAALC_ENST00000330955.5_Missense_Mutation_p.Q66H|BAALC_ENST00000309982.5_Intron|BAALC_ENST00000438105.2_Intron|RP11-318M2.2_ENST00000523915.1_RNA|RP11-318M2.2_ENST00000499522.2_RNA|RP11-318M2.2_ENST00000523614.2_RNA			Q8WXS3	BAALC_HUMAN	brain and acute leukemia, cytoplasmic							cytoplasm (GO:0005737)|membrane (GO:0016020)				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CTGCCCTACAGAAAGTTGGGC	0.353																																																	0								ENSG00000164929																																			BAALC	SO:0001627	intron_variant	0			-	HGNC	AF363578	CCDS6297.1, CCDS47906.1	8q22.3	2008-07-29			ENSG00000164929	ENSG00000164929			14333	protein-coding gene	gene with protein product		606602				11707601	Standard	NM_024812		Approved		uc003yld.3	Q8WXS3	OTTHUMG00000164782	ENST00000297574.6:c.161-2522G>C	8.37:g.104210364G>C		Somatic	0	59	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	20	61	24.69	Q8WTP6|Q8WXS0|Q8WXS1|Q8WXS2|Q9HA93	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_BAALC	p.Q66H	ENST00000297574.6	37	c.198		8	.	.	.	.	.	.	.	.	.	.	G	9.652	1.141776	0.21205	.	.	ENSG00000164929	ENST00000330955	.	.	.	2.63	2.63	0.31362	.	.	.	.	.	T	0.43055	0.1230	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.33240	-0.9876	5	0.62326	D	0.03	.	9.1157	0.36755	0.0:0.0:1.0:0.0	.	.	.	.	H	66	.	ENSP00000331579:Q66H	Q	+	3	2	BAALC	104279540	0.007000	0.16637	0.010000	0.14722	0.013000	0.08279	1.228000	0.32588	1.847000	0.53656	0.545000	0.68477	CAG	-	NULL		0.353	BAALC-003	KNOWN	basic	protein_coding	BAALC	protein_coding	OTTHUMT00000380257.1	G		-		104210364	+1	no_errors	ENST00000330955	ensembl	human	putative	74_37	missense	SNP	0.011	C
INTS4L1	285905	genome.wustl.edu	37	7	64613446	64613446	+	RNA	SNP	G	G	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr7:64613446G>A	ENST00000587624.1	+	0	236							Q96LV5	IN4L1_HUMAN	integrator complex subunit 4-like 1																		TTGATGATGCGTTTGGAAAAA	0.338																																																	0								ENSG00000164669																																			INTS4L1			0			-	HGNC			7q11.21	2013-03-26			ENSG00000164669	ENSG00000164669			21925	other	unknown							Standard	XR_426205		Approved	FLJ25037		Q96LV5	OTTHUMG00000156510		7.37:g.64613446G>A		Somatic	0	55	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	52	26.76		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000587624.1	37	NULL		7																																																																																			-	-		0.338	INTS4L1-002	KNOWN	non_canonical_conserved|basic	processed_transcript	INTS4L1	pseudogene	OTTHUMT00000460821.1	G	XR_041315	-		64613446	+1	no_errors	ENST00000587624	ensembl	human	known	74_37	rna	SNP	0.915	A
CABIN1	23523	genome.wustl.edu	37	22	24563248	24563248	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr22:24563248G>T	ENST00000398319.2	+	32	6034	c.5649G>T	c.(5647-5649)agG>agT	p.R1883S	CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000405822.2_Missense_Mutation_p.R1804S|CABIN1_ENST00000337989.7_Missense_Mutation_p.R308S|CABIN1_ENST00000263119.5_Missense_Mutation_p.R1883S	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1883					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GTGTGGAGAGGATCATGTCGG	0.592																																																	0								ENSG00000099991						61.0	57.0	58.0					22																	24563248		2201	4300	6501	CABIN1	SO:0001583	missense	0			-	HGNC	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.5649G>T	22.37:g.24563248G>T	ENSP00000381364:p.Arg1883Ser	Somatic	0	26	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.R1883S	ENST00000398319.2	37	c.5649	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	G	15.89	2.967469	0.53507	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319;ENST00000337989;ENST00000403176	T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02	5.01	1.8	0.24995	.	0.113641	0.56097	D	0.000021	T	0.50803	0.1637	N	0.08118	0	0.27470	N	0.952893	B;B;B	0.34015	0.435;0.167;0.104	B;B;B	0.24974	0.057;0.053;0.024	T	0.43180	-0.9407	10	0.32370	T	0.25	.	7.5893	0.28012	0.3297:0.0:0.6703:0.0	.	308;1804;1883	B5MEB3;G5E9F3;Q9Y6J0	.;.;CABIN_HUMAN	S	1883;1804;1883;308;308	ENSP00000263119:R1883S;ENSP00000384694:R1804S;ENSP00000381364:R1883S;ENSP00000336991:R308S	ENSP00000263119:R1883S	R	+	3	2	CABIN1	22893248	1.000000	0.71417	0.998000	0.56505	0.987000	0.75469	2.263000	0.43293	0.258000	0.21686	0.558000	0.71614	AGG	-	NULL		0.592	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	protein_coding	OTTHUMT00000320161.2	G	NM_012295	-		24563248	+1	no_errors	ENST00000263119	ensembl	human	known	74_37	missense	SNP	1.000	T
RP11-1166P10.1	0	genome.wustl.edu	37	16	31993507	31993507	+	RNA	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr16:31993507C>T	ENST00000568570.1	+	0	317																											GGGCCGAGGGCGAGGTGAGGG	0.672																																																	0								ENSG00000260628																																			RP11-1166P10.1			0			-	Clone_based_vega_gene																													16.37:g.31993507C>T		Somatic	0	37	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	42	27.59		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000568570.1	37	NULL		16																																																																																			-	-		0.672	RP11-1166P10.1-002	KNOWN	basic	processed_transcript	ENSG00000260628	pseudogene	OTTHUMT00000432457.1	C		-		31993507	+1	no_errors	ENST00000568570	ensembl	human	known	74_37	rna	SNP	1.000	T
EPHA8	2046	genome.wustl.edu	37	1	22927488	22927488	+	Missense_Mutation	SNP	G	G	A	rs146856523	byFrequency	TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr1:22927488G>A	ENST00000166244.3	+	15	2708	c.2636G>A	c.(2635-2637)cGg>cAg	p.R879Q		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	879	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACAAGGACCGGGCGCAGCGG	0.662													G|||	10	0.00199681	0.0	0.0	5008	,	,		17508	0.0		0.0	False		,,,				2504	0.0102																0								ENSG00000070886	G	GLN/ARG	0,4406		0,0,2203	63.0	60.0	61.0		2636	4.9	1.0	1	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	no	missense	EPHA8	NM_020526.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	879/1006	22927488	1,13005	2203	4300	6503	EPHA8	SO:0001583	missense	0			-	HGNC	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.2636G>A	1.37:g.22927488G>A	ENSP00000166244:p.Arg879Gln	Somatic	0	31	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	33	29.79	Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.R879Q	ENST00000166244.3	37	c.2636	CCDS225.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.896527	0.97081	0.0	1.16E-4	ENSG00000070886	ENST00000166244	T	0.62105	0.05	4.93	4.93	0.64822	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.63768	0.2539	N	0.20610	0.595	0.80722	D	1	D	0.89917	1.0	P	0.58520	0.84	T	0.69533	-0.5120	10	0.87932	D	0	.	16.8659	0.86029	0.0:0.0:1.0:0.0	.	879	P29322	EPHA8_HUMAN	Q	879	ENSP00000166244:R879Q	ENSP00000166244:R879Q	R	+	2	0	EPHA8	22800075	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	9.657000	0.98554	2.566000	0.86566	0.561000	0.74099	CGG	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom		0.662	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA8	protein_coding	OTTHUMT00000008085.1	G	NM_020526	rs146856523		22927488	+1	no_errors	ENST00000166244	ensembl	human	known	74_37	missense	SNP	1.000	A
SP5	389058	genome.wustl.edu	37	2	171570607	171570607	+	5'Flank	SNP	G	G	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr2:171570607G>T	ENST00000375281.3	+	0	0				AC007405.2_ENST00000409786.1_Missense_Mutation_p.A116E	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor						bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CCCTGCAAGCGCGACCCTGCC	0.662																																																	0								ENSG00000222033																																			AC007405.2	SO:0001631	upstream_gene_variant	0			-	Clone_based_vega_gene		CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053		2.37:g.171570607G>T	Exception_encountered	Somatic	0	26	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	12	36.84		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A116E	ENST00000375281.3	37	c.347	CCDS33322.1	2	.	.	.	.	.	.	.	.	.	.	G	8.303	0.820316	0.16678	.	.	ENSG00000222033	ENST00000409786	.	.	.	3.29	-0.8	0.10897	.	.	.	.	.	T	0.47525	0.1450	.	.	.	.	.	.	D	0.63880	0.993	P	0.60236	0.871	T	0.50575	-0.8812	6	0.87932	D	0	.	0.5118	0.00597	0.2483:0.1958:0.3559:0.2	.	116	E9PB92	.	E	116	.	ENSP00000387118:A116E	A	-	2	0	AC007405.2	171278853	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-1.101000	0.03336	-0.182000	0.10602	0.462000	0.41574	GCG	-	NULL		0.662	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000222033	protein_coding	OTTHUMT00000333670.1	G	XM_371581	-		171570607	-1	no_errors	ENST00000409786	ensembl	human	novel	74_37	missense	SNP	0.000	T
PAXIP1	22976	genome.wustl.edu	37	7	154760693	154760695	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr7:154760693_154760695delCTG	ENST00000404141.1	-	7	1370_1372	c.1216_1218delCAG	c.(1216-1218)cagdel	p.Q406del	PAXIP1_ENST00000397192.1_In_Frame_Del_p.Q406del|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	406	Gln-rich.			Missing (in Ref. 1; AK307417). {ECO:0000305}.	adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		gctgctgggcctgctgctgctgc	0.552																																																	0								ENSG00000157212			28,3792		4,20,1886						-5.9	0.0			28	58,7268		10,38,3615	no	coding	PAXIP1	NM_007349.3		14,58,5501	A1A1,A1R,RR		0.7917,0.733,0.7716				86,11060				PAXIP1	SO:0001651	inframe_deletion	0				HGNC	U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1216_1218delCAG	7.37:g.154760702_154760704delCTG	ENSP00000384048:p.Gln406del	Somatic	0	47	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	31	11.43	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.Q406in_frame_del	ENST00000404141.1	37	c.1218_1216	CCDS47753.1	7																																																																																			-	NULL		0.552	PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PAXIP1	protein_coding	OTTHUMT00000322223.1	CTG	NM_007349			154760695	-1	no_errors	ENST00000397192	ensembl	human	known	74_37	in_frame_del	DEL	0.780:0.857:0.865	-
FAM206A	54942	genome.wustl.edu	37	9	111701477	111701477	+	Splice_Site	SNP	G	G	T	rs370839535		TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr9:111701477G>T	ENST00000322940.6	+	4	569	c.263G>T	c.(262-264)gGg>gTg	p.G88V	FAM206A_ENST00000374624.3_Intron	NM_017832.3	NP_060302.1	Q9NX38	F206A_HUMAN	family with sequence similarity 206, member A	88						nucleus (GO:0005634)											ATTACACAGGGGGCACAGTTT	0.418																																																	0								ENSG00000119328						85.0	85.0	85.0					9																	111701477		2203	4300	6503	FAM206A	SO:0001630	splice_region_variant	0			-	HGNC	BC015795	CCDS6774.1	9q31	2011-08-15	2011-08-15	2011-08-15	ENSG00000119328	ENSG00000119328			1364	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 6"""	C9orf6			Standard	NM_017832		Approved	CG-8, FLJ20457	uc004bdn.3	Q9NX38	OTTHUMG00000020467	ENST00000322940.6:c.262-1G>T	9.37:g.111701477G>T		Somatic	0	46	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	43	8.51	Q5JTR0|Q5JTR1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GCV_H,superfamily_Single_hybrid_motif	p.G88V	ENST00000322940.6	37	c.263	CCDS6774.1	9	.	.	.	.	.	.	.	.	.	.	G	25.5	4.645798	0.87958	.	.	ENSG00000119328	ENST00000322940;ENST00000445175	T;T	0.35973	1.28;1.28	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.67135	0.2861	M	0.88906	2.99	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.72434	-0.4295	10	0.87932	D	0	.	17.8105	0.88614	0.0:0.0:1.0:0.0	.	88	Q9NX38	F206A_HUMAN	V	88;53	ENSP00000363753:G88V;ENSP00000398018:G53V	ENSP00000363753:G88V	G	+	2	0	C9orf6	110741298	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	8.764000	0.91719	2.809000	0.96659	0.557000	0.71058	GGG	-	superfamily_Single_hybrid_motif		0.418	FAM206A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM206A	protein_coding	OTTHUMT00000053582.1	G	NM_017832	-	Missense_Mutation	111701477	+1	no_errors	ENST00000322940	ensembl	human	known	74_37	missense	SNP	1.000	T
RP11-440D17.3	0	genome.wustl.edu	37	2	96191372	96191372	+	lincRNA	DEL	A	A	-			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr2:96191372delA	ENST00000609975.1	-	0	1078				AC009237.8_ENST00000608013.1_RNA																							GAGCGTTGAGAAGGCGCAGGA	0.642																																																	0								ENSG00000272913																																			RP11-440D17.3			0				Clone_based_vega_gene																													2.37:g.96191372delA		Somatic	0	48	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	31	31.11		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000609975.1	37	NULL		2																																																																																			-	-		0.642	RP11-440D17.3-001	KNOWN	basic	lincRNA	ENSG00000272913	lincRNA	OTTHUMT00000472064.1	A				96191372	-1	no_errors	ENST00000609975	ensembl	human	known	74_37	rna	DEL	0.546	-
OR13D1	286365	genome.wustl.edu	37	9	107457047	107457047	+	Silent	SNP	T	T	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr9:107457047T>A	ENST00000318763.5	+	1	388	c.345T>A	c.(343-345)atT>atA	p.I115I		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						CAATGCTTATTATATTTATGT	0.458																																																	0								ENSG00000179055						210.0	212.0	211.0					9																	107457047		2203	4300	6503	OR13D1	SO:0001819	synonymous_variant	0			-	HGNC		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.345T>A	9.37:g.107457047T>A		Somatic	0	36	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	30	37.50	B9EIS1|Q6IFL1	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I115	ENST00000318763.5	37	c.345	CCDS35094.1	9																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.458	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13D1	protein_coding	OTTHUMT00000053483.1	T		-		107457047	+1	no_errors	ENST00000318763	ensembl	human	known	74_37	silent	SNP	0.000	A
SEMA3A	10371	genome.wustl.edu	37	7	83591051	83591051	+	Missense_Mutation	SNP	G	G	A	rs150205475		TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr7:83591051G>A	ENST00000265362.4	-	17	2266	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V	SEMA3A_ENST00000436949.1_Missense_Mutation_p.A651V	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	651	Ig-like C2-type.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						ATGTTCCACCGCATGGCAGAG	0.433													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17340	0.0		0.0	False		,,,				2504	0.0																0								ENSG00000075213						105.0	94.0	98.0					7																	83591051		2203	4299	6502	SEMA3A	SO:0001583	missense	0			GMAF=0.0005	HGNC	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.1952C>T	7.37:g.83591051G>A	ENSP00000265362:p.Ala651Val	Somatic	0	58	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	55	20.29		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom	p.A651V	ENST00000265362.4	37	c.1952	CCDS5599.1	7	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	25.6	4.659451	0.88154	.	.	ENSG00000075213	ENST00000265362;ENST00000436949	T;T	0.01725	4.67;4.67	6.17	6.17	0.99709	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.07954	0.0199	M	0.83774	2.66	0.80722	D	1	D	0.60160	0.987	P	0.48552	0.581	T	0.00455	-1.1729	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	651	Q14563	SEM3A_HUMAN	V	651	ENSP00000265362:A651V;ENSP00000415260:A651V	ENSP00000265362:A651V	A	-	2	0	SEMA3A	83428987	1.000000	0.71417	0.832000	0.32986	0.877000	0.50540	9.807000	0.99171	2.941000	0.99782	0.655000	0.94253	GCG	-	smart_Ig_sub,pfscan_Ig-like_dom		0.433	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA3A	protein_coding	OTTHUMT00000253355.2	G	NM_006080	rs150205475		83591051	-1	no_errors	ENST00000265362	ensembl	human	known	74_37	missense	SNP	1.000	A
LTC4S	4056	genome.wustl.edu	37	5	179221116	179221116	+	Missense_Mutation	SNP	C	C	A	rs140301841		TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr5:179221116C>A	ENST00000292596.10	+	1	130	c.35C>A	c.(34-36)aCc>aAc	p.T12N	LTC4S_ENST00000401985.3_Missense_Mutation_p.T12N|MAML1_ENST00000503050.1_3'UTR	NM_145867.1	NP_665874.1	Q16873	LTC4S_HUMAN	leukotriene C4 synthase	12					arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)	enzyme activator activity (GO:0008047)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)|leukotriene-C4 synthase activity (GO:0004464)|lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)	1	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Glutathione(DB00143)	GCTGCTGTCACCCTCCTGGGA	0.627																																																	0								ENSG00000213316						157.0	99.0	119.0					5																	179221116		2203	4300	6503	LTC4S	SO:0001583	missense	0			-	HGNC	U11552	CCDS34316.1	5q35	2009-07-10			ENSG00000213316	ENSG00000213316	4.4.1.20		6719	protein-coding gene	gene with protein product		246530				8052639	Standard	NM_145867		Approved	MGC33147	uc003mko.3	Q16873	OTTHUMG00000150314	ENST00000292596.10:c.35C>A	5.37:g.179221116C>A	ENSP00000292596:p.Thr12Asn	Somatic	0	71	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	69	13.75	Q8N6P0|Q9UC73|Q9UD18	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Membr-assoc_MAPEG,prints_5_LipOase_AP	p.T12N	ENST00000292596.10	37	c.35	CCDS34316.1	5	.	.	.	.	.	.	.	.	.	.	C	15.11	2.735652	0.49045	.	.	ENSG00000213316	ENST00000292596;ENST00000401985	T;T	0.69040	0.32;-0.37	3.9	3.01	0.34805	Membrane associated eicosanoid/glutathione metabolism-like domain (1);	0.000000	0.85682	U	0.000000	T	0.80644	0.4662	M	0.87827	2.91	0.20873	N	0.999834	D	0.89917	1.0	D	0.91635	0.999	T	0.68891	-0.5289	10	0.59425	D	0.04	0.017	8.1864	0.31341	0.0:0.8838:0.0:0.1162	.	12	Q16873	LTC4S_HUMAN	N	12	ENSP00000292596:T12N;ENSP00000385627:T12N	ENSP00000292596:T12N	T	+	2	0	LTC4S	179153722	0.998000	0.40836	1.000000	0.80357	0.799000	0.45148	4.931000	0.63469	1.893000	0.54813	0.462000	0.41574	ACC	-	pfam_Membr-assoc_MAPEG,prints_5_LipOase_AP		0.627	LTC4S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTC4S	protein_coding	OTTHUMT00000317536.2	C	NM_000897	-		179221116	+1	no_errors	ENST00000292596	ensembl	human	known	74_37	missense	SNP	1.000	A
MYH10	4628	genome.wustl.edu	37	17	8422225	8422225	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr17:8422225C>A	ENST00000269243.4	-	18	2362	c.2224G>T	c.(2224-2226)Gat>Tat	p.D742Y	MYH10_ENST00000379980.4_Missense_Mutation_p.D758Y|MYH10_ENST00000360416.3_Missense_Mutation_p.D773Y|MYH10_ENST00000396239.1_Missense_Mutation_p.D763Y	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	742	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGTTTACCATCCATAAAACCT	0.308																																																	0								ENSG00000133026						88.0	84.0	86.0					17																	8422225		2203	4300	6503	MYH10	SO:0001583	missense	0			-	HGNC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2224G>T	17.37:g.8422225C>A	ENSP00000269243:p.Asp742Tyr	Somatic	0	141	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	54	111	32.73	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D763Y	ENST00000269243.4	37	c.2287	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536059	0.85812	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	T;T;D;T	0.88664	-0.83;-0.83;-2.41;-0.83	4.96	4.96	0.65561	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.96978	0.9013	H	0.98525	4.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98581	1.0650	10	0.87932	D	0	.	18.417	0.90574	0.0:1.0:0.0:0.0	.	751;773;742	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Y	742;773;763;758	ENSP00000269243:D742Y;ENSP00000353590:D773Y;ENSP00000379539:D763Y;ENSP00000369315:D758Y	ENSP00000269243:D742Y	D	-	1	0	MYH10	8362950	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.609000	0.82925	2.574000	0.86865	0.650000	0.86243	GAT	-	pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom		0.308	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	protein_coding	OTTHUMT00000227001.2	C		-		8422225	-1	no_errors	ENST00000396239	ensembl	human	known	74_37	missense	SNP	1.000	A
TRIM58	25893	genome.wustl.edu	37	1	248020718	248020718	+	Missense_Mutation	SNP	G	G	C			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr1:248020718G>C	ENST00000366481.3	+	1	218	c.170G>C	c.(169-171)tGt>tCt	p.C57S		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	57						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTCTACGCCTGTCCGCAGTGC	0.736																																																	0								ENSG00000162722						9.0	10.0	10.0					1																	248020718		2184	4281	6465	TRIM58	SO:0001583	missense	0			-	HGNC	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.170G>C	1.37:g.248020718G>C	ENSP00000355437:p.Cys57Ser	Somatic	0	55	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	32	28.89	Q6B0H9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.C57S	ENST00000366481.3	37	c.170	CCDS1636.1	1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.376061	0.61735	.	.	ENSG00000162722	ENST00000366481	T	0.54479	0.57	4.19	4.19	0.49359	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.221234	0.31685	N	0.007223	D	0.82296	0.5006	H	0.98446	4.235	0.48830	D	0.999716	D	0.89917	1.0	D	0.80764	0.994	D	0.89065	0.3465	10	0.87932	D	0	.	14.4407	0.67314	0.0:0.0:1.0:0.0	.	57	Q8NG06	TRI58_HUMAN	S	57	ENSP00000355437:C57S	ENSP00000355437:C57S	C	+	2	0	TRIM58	246087341	1.000000	0.71417	0.113000	0.21522	0.013000	0.08279	6.796000	0.75145	2.353000	0.79882	0.650000	0.86243	TGT	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.736	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM58	protein_coding	OTTHUMT00000096860.1	G	NM_015431	-		248020718	+1	no_errors	ENST00000366481	ensembl	human	known	74_37	missense	SNP	0.997	C
FAM53C	51307	genome.wustl.edu	37	5	137681192	137681192	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr5:137681192G>T	ENST00000239906.5	+	4	1243	c.815G>T	c.(814-816)cGc>cTc	p.R272L	RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000513056.1_Missense_Mutation_p.A82S|FAM53C_ENST00000434981.2_Missense_Mutation_p.R272L	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	272										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCCGAAGCCGCTCACAGCCT	0.657																																																	0								ENSG00000120709						47.0	57.0	53.0					5																	137681192		2203	4300	6503	FAM53C	SO:0001583	missense	0			-	HGNC	AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.815G>T	5.37:g.137681192G>T	ENSP00000239906:p.Arg272Leu	Somatic	0	26	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	23	14.81	B2RDJ5|D3DQB9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.R272L	ENST00000239906.5	37	c.815	CCDS4204.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.05|14.05	2.420763|2.420763	0.42918|0.42918	.|.	.|.	ENSG00000120709|ENSG00000120709	ENST00000513056|ENST00000434981;ENST00000239906	T|T;T	0.51817|0.59083	0.69|0.29;0.29	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.159909	.|0.56097	.|D	.|0.000028	T|T	0.55529|0.55529	0.1926|0.1926	M|M	0.72479|0.72479	2.2|2.2	0.28570|0.28570	N|N	0.910672|0.910672	B|P	0.31100|0.51240	0.308|0.943	B|B	0.30782|0.40256	0.12|0.324	T|T	0.65228|0.65228	-0.6219|-0.6219	9|10	0.21014|0.87932	T|D	0.42|0	-9.5018|-9.5018	11.789|11.789	0.52059|0.52059	0.0804:0.0:0.9196:0.0|0.0804:0.0:0.9196:0.0	.|.	82|272	D6RE00|Q9NYF3	.|FA53C_HUMAN	S|L	82|272	ENSP00000425154:A82S|ENSP00000403705:R272L;ENSP00000239906:R272L	ENSP00000425154:A82S|ENSP00000239906:R272L	A|R	+|+	1|2	0|0	FAM53C|FAM53C	137709091|137709091	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	2.726000|2.726000	0.47302|0.47302	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	GCT|CGC	-	NULL		0.657	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53C	protein_coding	OTTHUMT00000251278.2	G	NM_016605	-		137681192	+1	no_errors	ENST00000239906	ensembl	human	known	74_37	missense	SNP	1.000	T
RP11-364P22.2	0	genome.wustl.edu	37	4	158559138	158559138	+	lincRNA	SNP	G	G	C			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr4:158559138G>C	ENST00000507296.1	+	0	300																											GCCCCGCGCCGCAGCGCAGCC	0.662																																																	0								ENSG00000249275																																			RP11-364P22.2			0			-	Clone_based_vega_gene																													4.37:g.158559138G>C		Somatic	0	9	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	10	41.18		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000507296.1	37	NULL		4																																																																																			-	-		0.662	RP11-364P22.2-001	KNOWN	basic	lincRNA	ENSG00000249275	lincRNA	OTTHUMT00000365220.1	G		-		158559138	+1	no_errors	ENST00000507296	ensembl	human	known	74_37	rna	SNP	0.000	C
TP53	7157	genome.wustl.edu	37	17	7577498	7577498	+	Splice_Site	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr17:7577498C>T	ENST00000269305.4	-	7	972		c.e7+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(29)|p.0?(8)|p.E258fs*71(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TGGCTCCTGACCTGGAGTCTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	38	Unknown(29)|Whole gene deletion(8)|Deletion - Frameshift(1)	breast(5)|ovary(5)|bone(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|large_intestine(2)|oesophagus(2)|peritoneum(1)|biliary_tract(1)|liver(1)|urinary_tract(1)|salivary_gland(1)|lung(1)|skin(1)|pancreas(1)						ENSG00000141510						121.0	85.0	97.0					17																	7577498		2203	4300	6503	TP53	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	-	HGNC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.782+1G>A	17.37:g.7577498C>T		Somatic	0	26	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	11	65.62	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e6+1	ENST00000269305.4	37	c.782+1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989137	0.35131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.688	0.69062	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518223	1.000000	0.71417	0.987000	0.45799	0.147000	0.21601	3.111000	0.50360	2.406000	0.81754	0.462000	0.41574	.	-	-		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	-	Intron	7577498	-1	no_errors	ENST00000269305	ensembl	human	known	74_37	splice_site	SNP	1.000	T
KIF4B	285643	genome.wustl.edu	37	5	154395666	154395666	+	Silent	SNP	T	T	C			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr5:154395666T>C	ENST00000435029.4	+	1	2407	c.2247T>C	c.(2245-2247)aaT>aaC	p.N749N		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	749	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGCTTGGAAATGAAATTGAGG	0.468																																																	0								ENSG00000226650						83.0	80.0	81.0					5																	154395666		2203	4300	6503	KIF4B	SO:0001819	synonymous_variant	0			-	HGNC	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2247T>C	5.37:g.154395666T>C		Somatic	0	112	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	80	30.43		Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N749	ENST00000435029.4	37	c.2247	CCDS47324.1	5																																																																																			-	NULL		0.468	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	protein_coding	OTTHUMT00000377478.1	T		-		154395666	+1	no_errors	ENST00000435029	ensembl	human	known	74_37	silent	SNP	1.000	C
CRACR2A	84766	genome.wustl.edu	37	12	3736635	3736635	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr12:3736635G>T	ENST00000440314.2	-	17	2372	c.1899C>A	c.(1897-1899)ttC>ttA	p.F633L		NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN		0					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GGACCGACAGGAACGACTGCT	0.557																																																	0								ENSG00000130038						70.0	73.0	72.0					12																	3736635		692	1591	2283	EFCAB4B	SO:0001583	missense	0			-	HGNC																												ENST00000440314.2:c.1899C>A	12.37:g.3736635G>T	ENSP00000409382:p.Phe633Leu	Somatic	0	37	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B4E1X0|B9EK63	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom	p.F633L	ENST00000440314.2	37	c.1899	CCDS44803.1	12	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489493	0.84962	.	.	ENSG00000130038	ENST00000440314	T	0.80304	-1.36	5.54	2.52	0.30459	.	0.000000	0.85682	D	0.000000	T	0.71978	0.3404	.	.	.	0.80722	D	1	B	0.29115	0.233	B	0.29598	0.104	T	0.68716	-0.5335	9	0.87932	D	0	.	7.6046	0.28095	0.2986:0.0:0.7014:0.0	.	633	Q9BSW2-2	.	L	633	ENSP00000409382:F633L	ENSP00000409382:F633L	F	-	3	2	EFCAB4B	3606896	1.000000	0.71417	0.994000	0.49952	0.992000	0.81027	2.654000	0.46699	0.611000	0.30052	0.655000	0.94253	TTC	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.557	EFCAB4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB4B	protein_coding	OTTHUMT00000398640.2	G		-		3736635	-1	no_errors	ENST00000440314	ensembl	human	known	74_37	missense	SNP	1.000	T
MUC12	10071	genome.wustl.edu	37	7	100644303	100644303	+	Missense_Mutation	SNP	G	G	A	rs144363228	byFrequency	TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr7:100644303G>A	ENST00000379442.3	+	5	10888	c.10888G>A	c.(10888-10890)Gtc>Atc	p.V3630I	MUC12_ENST00000536621.1_Missense_Mutation_p.V3487I			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	3630	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						AAGCTCAGGCGTCAGTGAAGA	0.577													g|||	476	0.0950479	0.0666	0.0821	5008	,	,		93416	0.0744		0.1004	False		,,,				2504	0.1585																0								ENSG00000205277						5.0	6.0	6.0					7																	100644303		338	861	1199	MUC12	SO:0001583	missense	0			-	HGNC	AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.10888G>A	7.37:g.100644303G>A	ENSP00000368755:p.Val3630Ile	Somatic	0	13	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	12	33.33	A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_SEA_dom	p.V3487I	ENST00000379442.3	37	c.10459		7	.	.	.	.	.	.	.	.	.	.	g	0.778	-0.763222	0.02996	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.11604	2.76;2.76	0.4	-0.8	0.10897	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.41556	-0.9502	6	0.31617	T	0.26	.	.	.	.	.	.	.	.	I	3630;3487	ENSP00000368755:V3630I;ENSP00000441929:V3487I	ENSP00000368755:V3630I	V	+	1	0	MUC12	100431023	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.830000	0.04410	-0.545000	0.06224	-0.547000	0.04224	GTC	-	NULL		0.577	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	protein_coding	OTTHUMT00000347234.1	G	XM_379904	rs144363228		100644303	+1	no_errors	ENST00000536621	ensembl	human	known	74_37	missense	SNP	0.001	A
RGPD4	285190	genome.wustl.edu	37	2	108459652	108459652	+	Missense_Mutation	SNP	G	G	C			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr2:108459652G>C	ENST00000408999.3	+	5	670	c.593G>C	c.(592-594)cGt>cCt	p.R198P	RGPD4_ENST00000354986.4_Missense_Mutation_p.R198P	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	198					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATAGCTTTGCGTTCAAGTTTA	0.433																																																	0								ENSG00000196862						1.0	1.0	1.0					2																	108459652		2	5	7	RGPD4	SO:0001583	missense	0			-	HGNC	BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.593G>C	2.37:g.108459652G>C	ENSP00000386810:p.Arg198Pro	Somatic	0	15	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	5	37.50	B9A029	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.R198P	ENST00000408999.3	37	c.593	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	10.07	1.249001	0.22880	.	.	ENSG00000196862	ENST00000354986;ENST00000408999;ENST00000445751	T;T	0.30981	1.51;1.51	2.65	2.65	0.31530	.	.	.	.	.	T	0.34454	0.0898	M	0.66939	2.045	0.21445	N	0.999687	D	0.56521	0.976	P	0.46389	0.515	T	0.17077	-1.0381	9	0.51188	T	0.08	-5.9722	7.2947	0.26387	0.1416:0.0:0.8584:0.0	.	198	Q7Z3J3	RGPD4_HUMAN	P	198;198;141	ENSP00000347081:R198P;ENSP00000386810:R198P	ENSP00000347081:R198P	R	+	2	0	RGPD4	107826084	1.000000	0.71417	0.996000	0.52242	0.265000	0.26407	3.417000	0.52714	1.313000	0.45069	0.184000	0.17185	CGT	-	NULL		0.433	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	protein_coding	OTTHUMT00000330096.2	G	XM_496581	-		108459652	+1	no_errors	ENST00000354986	ensembl	human	known	74_37	missense	SNP	0.811	C
DNAJC5B	85479	genome.wustl.edu	37	8	66963819	66963819	+	Silent	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr8:66963819C>T	ENST00000276570.5	+	3	324	c.37C>T	c.(37-39)Ctg>Ttg	p.L13L	DNAJC5B_ENST00000519330.1_3'UTR	NM_033105.4	NP_149096.2	Q9UF47	DNJ5B_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5 beta	13						membrane (GO:0016020)				endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			ACAGCGGACTCTGTCAACAAC	0.413																																																	0								ENSG00000147570						138.0	127.0	130.0					8																	66963819		2203	4300	6503	DNAJC5B	SO:0001819	synonymous_variant	0			-	HGNC	AF368276	CCDS6183.1	8q13.1	2012-10-02			ENSG00000147570	ENSG00000147570		"""Heat shock proteins / DNAJ (HSP40)"""	24138	protein-coding gene	gene with protein product		613945				12477932	Standard	NM_033105		Approved	MGC26226, CSP-beta	uc003xvs.1	Q9UF47	OTTHUMG00000164470	ENST00000276570.5:c.37C>T	8.37:g.66963819C>T		Somatic	0	47	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	27	50	35.06	Q969Y8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain	p.L13	ENST00000276570.5	37	c.37	CCDS6183.1	8																																																																																			-	superfamily_DnaJ_domain		0.413	DNAJC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC5B	protein_coding	OTTHUMT00000378915.1	C	NM_033105	-		66963819	+1	no_errors	ENST00000276570	ensembl	human	known	74_37	silent	SNP	0.000	T
MARCO	8685	genome.wustl.edu	37	2	119739778	119739778	+	Silent	SNP	A	A	G			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr2:119739778A>G	ENST00000327097.4	+	11	1083	c.948A>G	c.(946-948)ggA>ggG	p.G316G	MARCO_ENST00000541757.1_Silent_p.G238G	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	316	Collagen-like.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GTGCAGTGGGACACCCAGGTG	0.622																																					GBM(8;18 374 7467 11269 32796)												0								ENSG00000019169						61.0	66.0	64.0					2																	119739778		2203	4300	6503	MARCO	SO:0001819	synonymous_variant	0			-	HGNC	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.948A>G	2.37:g.119739778A>G		Somatic	0	36	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	29	30.95	B4DW79|Q9Y5S3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Collagen,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR	p.G316	ENST00000327097.4	37	c.948	CCDS2124.1	2																																																																																			-	NULL		0.622	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	protein_coding	OTTHUMT00000254190.2	A	NM_006770	-		119739778	+1	no_errors	ENST00000327097	ensembl	human	known	74_37	silent	SNP	0.284	G
RNF125	54941	genome.wustl.edu	37	18	29648343	29648343	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr18:29648343C>A	ENST00000217740.3	+	6	1187	c.695C>A	c.(694-696)aCa>aAa	p.T232K	RP11-53I6.2_ENST00000583184.1_RNA|RNF125_ENST00000583384.1_3'UTR	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	232				T -> A (in Ref. 2; AAH12021). {ECO:0000305}.	innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TCGAACACCACATAATTTTAT	0.363																																																	0								ENSG00000101695						50.0	53.0	52.0					18																	29648343		2202	4300	6502	RNF125	SO:0001583	missense	0			-	HGNC	AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"""RING-type (C3HC4) zinc fingers"""	21150	protein-coding gene	gene with protein product		610432	"""ring finger protein 125"""				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.695C>A	18.37:g.29648343C>A	ENSP00000217740:p.Thr232Lys	Somatic	0	114	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	38	59	39.18	Q9NX39	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T232K	ENST00000217740.3	37	c.695	CCDS11902.1	18	.	.	.	.	.	.	.	.	.	.	C	18.23	3.577981	0.65878	.	.	ENSG00000101695	ENST00000217740	D	0.82803	-1.65	5.89	4.97	0.65823	.	0.106709	0.42294	D	0.000730	T	0.67776	0.2929	N	0.08118	0	0.28831	N	0.897141	B	0.27853	0.191	B	0.26770	0.073	T	0.66638	-0.5873	10	0.72032	D	0.01	-4.6131	12.1949	0.54292	0.0:0.8289:0.1711:0.0	.	232	Q96EQ8	RN125_HUMAN	K	232	ENSP00000217740:T232K	ENSP00000217740:T232K	T	+	2	0	RNF125	27902341	1.000000	0.71417	1.000000	0.80357	0.377000	0.30045	1.511000	0.35801	2.783000	0.95769	0.655000	0.94253	ACA	-	NULL		0.363	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF125	protein_coding	OTTHUMT00000255354.1	C	NM_017831	-		29648343	+1	no_errors	ENST00000217740	ensembl	human	known	74_37	missense	SNP	1.000	A
ADAM11	4185	genome.wustl.edu	37	17	42852679	42852679	+	Splice_Site	SNP	G	G	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr17:42852679G>T	ENST00000200557.6	+	15	1489	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N	ADAM11_ENST00000535346.1_Splice_Site_p.K240N	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	440					integrin-mediated signaling pathway (GO:0007229)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AGCCCCTCAAGGTACCAGCCC	0.677																																																	0								ENSG00000073670						45.0	50.0	48.0					17																	42852679		2203	4300	6503	ADAM11	SO:0001630	splice_region_variant	0			-	HGNC	D17390	CCDS11486.1	17q21.3	2014-08-12	2005-08-18		ENSG00000073670			"""ADAM metallopeptidase domain containing"""	189	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, cysteine-rich protein"""	155120	"""a disintegrin and metalloproteinase domain 11"""	MDC		8252040	Standard	XM_005257373		Approved		uc002ihh.3	O75078	OTTHUMG00000179038	ENST00000200557.6:c.1320+1G>T	17.37:g.42852679G>T		Somatic	0	61	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	57	24.00	Q14808|Q14809|Q14810	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	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,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.K440N	ENST00000200557.6	37	c.1320	CCDS11486.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.300637	0.95601	.	.	ENSG00000073670	ENST00000200557;ENST00000535346;ENST00000355638	T;T	0.02395	4.31;4.76	4.62	4.62	0.57501	Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.12732	0.0309	M	0.63428	1.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	T	0.01401	-1.1364	10	0.42905	T	0.14	.	16.3861	0.83504	0.0:0.0:1.0:0.0	.	240;440	B4DKD2;O75078	.;ADA11_HUMAN	N	440;240;340	ENSP00000200557:K440N;ENSP00000443773:K240N	ENSP00000200557:K440N	K	+	3	2	ADAM11	40208205	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	6.164000	0.71885	2.402000	0.81655	0.549000	0.68633	AAG	-	NULL		0.677	ADAM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM11	protein_coding	OTTHUMT00000444531.1	G	NM_002390	-	Missense_Mutation	42852679	+1	no_errors	ENST00000200557	ensembl	human	known	74_37	missense	SNP	1.000	T
SIDT2	51092	genome.wustl.edu	37	11	117053257	117053257	+	Missense_Mutation	SNP	A	A	C			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr11:117053257A>C	ENST00000324225.4	+	5	1070	c.539A>C	c.(538-540)gAa>gCa	p.E180A	SIDT2_ENST00000530948.1_3'UTR|SIDT2_ENST00000431081.2_Missense_Mutation_p.E180A	NM_001040455.1	NP_001035545.1	Q8NBJ9	SIDT2_HUMAN	SID1 transmembrane family, member 2	180					cell morphogenesis (GO:0000902)|dsRNA transport (GO:0033227)|glucose homeostasis (GO:0042593)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|response to glucose (GO:0009749)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell proliferation (GO:0044342)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	RNA transmembrane transporter activity (GO:0051033)			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		GAGTTCCCTGAAGGCGTGGAC	0.542																																																	0								ENSG00000149577						132.0	107.0	116.0					11																	117053257		2201	4296	6497	SIDT2	SO:0001583	missense	0			-	HGNC	AF151799	CCDS31682.1	11q23.3	2008-02-05			ENSG00000149577	ENSG00000149577			24272	protein-coding gene	gene with protein product						10810093, 12975309	Standard	NM_001040455		Approved	CGI-40	uc001pqh.1	Q8NBJ9	OTTHUMG00000167065	ENST00000324225.4:c.539A>C	11.37:g.117053257A>C	ENSP00000314023:p.Glu180Ala	Somatic	0	62	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	29	34.09	Q8NBY7|Q9Y357	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.E180A	ENST00000324225.4	37	c.539	CCDS31682.1	11	.	.	.	.	.	.	.	.	.	.	A	21.4	4.149839	0.78001	.	.	ENSG00000149577	ENST00000324225;ENST00000278951;ENST00000431081;ENST00000524842;ENST00000531353	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	4.73	4.73	0.59995	.	0.169979	0.50627	D	0.000118	T	0.34774	0.0909	M	0.66939	2.045	0.51012	D	0.999904	B;B;P;B	0.42296	0.38;0.184;0.775;0.433	B;B;P;P	0.45660	0.24;0.035;0.489;0.477	T	0.09487	-1.0672	10	0.33940	T	0.23	-12.9557	14.6587	0.68852	1.0:0.0:0.0:0.0	.	180;180;180;180	Q8NBJ9-2;F5H8L4;Q8NBJ9;C9JBG5	.;.;SIDT2_HUMAN;.	A	180;180;180;30;79	ENSP00000314023:E180A;ENSP00000278951:E180A;ENSP00000399635:E180A;ENSP00000436983:E30A	ENSP00000278951:E180A	E	+	2	0	SIDT2	116558467	1.000000	0.71417	0.994000	0.49952	0.910000	0.53928	6.840000	0.75369	2.118000	0.64928	0.533000	0.62120	GAA	-	NULL		0.542	SIDT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIDT2	protein_coding	OTTHUMT00000392836.1	A	NM_015996	-		117053257	+1	no_errors	ENST00000278951	ensembl	human	known	74_37	missense	SNP	0.996	C
ATP13A3	79572	genome.wustl.edu	37	3	194219220	194219221	+	5'Flank	INS	-	-	TTTTG	rs3077317|rs377149399|rs10662330	byFrequency	TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr3:194219220_194219221insTTTTG	ENST00000439040.1	-	0	0				LINC00884_ENST00000437597.1_RNA|LINC00884_ENST00000448892.1_RNA|AC108676.1_ENST00000455557.2_RNA			Q9H7F0	AT133_HUMAN	ATPase type 13A3							integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TAGCTCTTCTTttttgttttgt	0.426														748	0.149361	0.0749	0.2089	5008	,	,		23361	0.1081		0.2256	False		,,,				2504	0.1718																0								ENSG00000244675																																			AC108676.1	SO:0001631	upstream_gene_variant	0				Clone_based_vega_gene	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034		3.37:g.194219226_194219230dupTTTTG	Exception_encountered	Somatic	NA	NA	NA		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q8NC11|Q96KS1	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000439040.1	37	NULL	CCDS43187.1	3																																																																																			-	-		0.426	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LOC100507033	protein_coding	OTTHUMT00000342799.2	-	NM_024524			194219221	-1	no_errors	ENST00000455557	ensembl	human	known	74_37	rna	INS	0.000:0.000	TTTTG
EPHA2	1969	genome.wustl.edu	37	1	16461655	16461656	+	Frame_Shift_Ins	INS	-	-	C			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr1:16461655_16461656insC	ENST00000358432.5	-	7	1611_1612	c.1457_1458insG	c.(1456-1458)cgcfs	p.R486fs		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	486	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	AACCCTCGGTGCGGCGCACATT	0.698																																																	0								ENSG00000142627																																			EPHA2	SO:0001589	frameshift_variant	0				HGNC	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.1458dupG	1.37:g.16461656_16461656dupC	ENSP00000351209:p.Arg486fs	Somatic	0	29	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	19	9.52	B5A968|Q8N3Z2	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom	p.T487fs	ENST00000358432.5	37	c.1458_1457	CCDS169.1	1																																																																																			-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.698	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHA2	protein_coding	OTTHUMT00000026322.1	-	NM_004431			16461656	-1	no_errors	ENST00000358432	ensembl	human	known	74_37	frame_shift_ins	INS	0.484:0.889	C
RC3H2	54542	genome.wustl.edu	37	9	125627715	125627715	+	Missense_Mutation	SNP	C	C	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr9:125627715C>A	ENST00000373670.1	-	9	2147	c.1547G>T	c.(1546-1548)aGa>aTa	p.R516I	RC3H2_ENST00000357244.2_Missense_Mutation_p.R516I|RC3H2_ENST00000423239.2_Missense_Mutation_p.R516I			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	516					B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTCCAGAGCTCTTAAGGTACT	0.438																																																	0								ENSG00000056586						128.0	121.0	123.0					9																	125627715		1897	4109	6006	RC3H2	SO:0001583	missense	0			-	HGNC	AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.1547G>T	9.37:g.125627715C>A	ENSP00000362774:p.Arg516Ile	Somatic	0	116	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	26	63	29.21	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING	p.R516I	ENST00000373670.1	37	c.1547	CCDS43874.1	9	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933062	0.92458	.	.	ENSG00000056586	ENST00000373670;ENST00000357244;ENST00000373663;ENST00000423239	T;T;T	0.46819	0.86;0.86;0.88	5.97	5.97	0.96955	.	0.142736	0.56097	D	0.000040	T	0.49287	0.1548	N	0.08118	0	0.80722	D	1	D;D	0.64830	0.99;0.994	D;D	0.71870	0.944;0.975	T	0.52094	-0.8621	10	0.32370	T	0.25	-29.1513	17.5798	0.87963	0.0:1.0:0.0:0.0	.	516;516	Q9HBD1;Q9HBD1-4	RC3H2_HUMAN;.	I	516;516;387;516	ENSP00000362774:R516I;ENSP00000349783:R516I;ENSP00000411767:R516I	ENSP00000349783:R516I	R	-	2	0	RC3H2	124667536	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	3.194000	0.51005	2.834000	0.97654	0.650000	0.86243	AGA	-	NULL		0.438	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RC3H2	protein_coding	OTTHUMT00000053966.1	C	NM_018835	-		125627715	-1	no_errors	ENST00000357244	ensembl	human	known	74_37	missense	SNP	1.000	A
AP5Z1	9907	genome.wustl.edu	37	7	4823388	4823388	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr7:4823388C>T	ENST00000348624.4	+	5	674	c.580C>T	c.(580-582)Cca>Tca	p.P194S	AP5Z1_ENST00000401897.1_Missense_Mutation_p.P194S	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	194					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GCAAGGGCTCCCACACTCCGG	0.667																																																	0								ENSG00000242802						7.0	10.0	9.0					7																	4823388		1884	3930	5814	AP5Z1	SO:0001583	missense	0			-	HGNC	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.580C>T	7.37:g.4823388C>T	ENSP00000297562:p.Pro194Ser	Somatic	0	95	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	76	16.48	Q8N3X2|Q96H80	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.P194S	ENST00000348624.4	37	c.580	CCDS47528.1	7	.	.	.	.	.	.	.	.	.	.	C	2.021	-0.424819	0.04734	.	.	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.44083	0.94;0.93	4.37	0.461	0.16689	.	0.382752	0.26757	N	0.022656	T	0.21387	0.0515	N	0.24115	0.695	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.11227	-1.0596	10	0.25751	T	0.34	.	3.7265	0.08477	0.1037:0.4183:0.3496:0.1285	.	194	O43299	K0415_HUMAN	S	194	ENSP00000297562:P194S;ENSP00000384980:P194S	ENSP00000297562:P194S	P	+	1	0	KIAA0415	4789914	0.000000	0.05858	0.000000	0.03702	0.053000	0.15095	0.009000	0.13219	-0.237000	0.09739	0.462000	0.41574	CCA	-	NULL		0.667	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP5Z1	protein_coding	OTTHUMT00000323771.1	C		-		4823388	+1	no_errors	ENST00000348624	ensembl	human	known	74_37	missense	SNP	0.002	T
GPR78	27201	genome.wustl.edu	37	4	8588802	8588802	+	Silent	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr4:8588802C>T	ENST00000382487.4	+	3	1221	c.804C>T	c.(802-804)ttC>ttT	p.F268F	GPR78_ENST00000509216.1_3'UTR	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	268					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TCGTGCCCTTCGTCACCGTGA	0.657																																																	0								ENSG00000155269						36.0	36.0	36.0					4																	8588802		2203	4299	6502	GPR78	SO:0001819	synonymous_variant	0			-	HGNC	AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.804C>T	4.37:g.8588802C>T		Somatic	0	107	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	79	21.78	Q8NGV3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F268	ENST00000382487.4	37	c.804	CCDS3403.1	4																																																																																			-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.657	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR78	protein_coding	OTTHUMT00000359201.1	C		-		8588802	+1	no_errors	ENST00000382487	ensembl	human	known	74_37	silent	SNP	0.009	T
SNAP91	9892	genome.wustl.edu	37	6	84368742	84368742	+	Silent	SNP	T	T	C			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr6:84368742T>C	ENST00000439399.2	-	6	838	c.522A>G	c.(520-522)caA>caG	p.Q174Q	SNAP91_ENST00000520213.1_Silent_p.Q174Q|SNAP91_ENST00000521743.1_Silent_p.Q174Q|SNAP91_ENST00000195649.6_Silent_p.Q174Q|SNAP91_ENST00000520302.1_Silent_p.Q174Q|SNAP91_ENST00000521485.1_Silent_p.Q174Q|SNAP91_ENST00000437520.1_Silent_p.Q174Q|SNAP91_ENST00000428679.2_Silent_p.Q174Q|SNAP91_ENST00000369694.2_Silent_p.Q174Q	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	174					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GTGCATCAATTTGTCCCTGTA	0.363																																																	0								ENSG00000065609						94.0	97.0	96.0					6																	84368742		1889	4108	5997	SNAP91	SO:0001819	synonymous_variant	0			-	HGNC	AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.522A>G	6.37:g.84368742T>C		Somatic	0	61	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	41	21.15	A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.Q174	ENST00000439399.2	37	c.522	CCDS47455.1	6																																																																																			-	pfam_ANTH_dom		0.363	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	protein_coding	OTTHUMT00000375296.1	T		-		84368742	-1	no_errors	ENST00000369694	ensembl	human	known	74_37	silent	SNP	0.998	C
FAM167A	83648	genome.wustl.edu	37	8	11280926	11280926	+	3'UTR	SNP	G	G	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr8:11280926G>A	ENST00000284486.4	-	0	2139				C8orf12_ENST00000284481.3_Intron|FAM167A_ENST00000531564.1_5'UTR|C8orf12_ENST00000529305.1_Intron	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A											breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						AGTTGTTTAGGTCAGGCACAA	0.458																																																	0								ENSG00000154319																																			FAM167A	SO:0001624	3_prime_UTR_variant	0			-	HGNC		CCDS5981.1	8p23-p22	2010-08-27	2008-06-11	2008-06-11	ENSG00000154319	ENSG00000154319			15549	protein-coding gene	gene with protein product		610085	"""chromosome 8 open reading frame 13"""	C8orf13			Standard	NM_053279		Approved		uc003wtw.2	Q96KS9	OTTHUMG00000129361	ENST00000284486.4:c.*956C>T	8.37:g.11280926G>A		Somatic	0	43	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A8K3T9|Q3SXY1|Q3SXY3|Q8N3M3|Q9NSR0	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000284486.4	37	NULL	CCDS5981.1	8																																																																																			-	-		0.458	FAM167A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM167A	protein_coding	OTTHUMT00000251513.2	G		-		11280926	-1	no_errors	ENST00000531564	ensembl	human	known	74_37	rna	SNP	0.006	A
ASAH1	427	genome.wustl.edu	37	8	17942299	17942299	+	5'Flank	SNP	G	G	T	rs191092536		TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr8:17942299G>T	ENST00000262097.6	-	0	0				ASAH1_ENST00000520781.1_5'Flank|ASAH1_ENST00000417108.2_5'Flank|ASAH1_ENST00000520051.1_5'UTR|ASAH1_ENST00000314146.10_Nonsense_Mutation_p.C4*|CTD-2547L16.1_ENST00000517747.1_RNA|CTD-2547L16.1_ENST00000517798.1_RNA|ASAH1_ENST00000381733.4_Nonsense_Mutation_p.C4*|CTD-2547L16.1_ENST00000521775.1_RNA|CTD-2547L16.1_ENST00000499554.2_RNA|CTD-2547L16.1_ENST00000505114.2_RNA	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1						cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		CCAGCCCGATGCAGCAGTTCA	0.612											OREG0018581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000104763						37.0	41.0	39.0					8																	17942299		2203	4300	6503	ASAH1	SO:0001631	upstream_gene_variant	0			-	HGNC	U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997		8.37:g.17942299G>T	Exception_encountered	Somatic	0	38	0.00	721	0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	49	9.26	E9PDS0|Q6W898|Q96AS2	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like	p.C4*	ENST00000262097.6	37	c.12	CCDS6006.1	8	.	.	.	.	.	.	.	.	.	.	.	17.10	3.303246	0.60195	.	.	ENSG00000104763	ENST00000381733;ENST00000314146	.	.	.	2.78	-5.57	0.02521	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	0.0922	10.2689	0.43470	0.0:0.1196:0.71:0.1704	.	.	.	.	X	4	.	ENSP00000326970:C4X	C	-	3	2	ASAH1	17986579	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.290000	0.02777	-2.120000	0.00826	-2.017000	0.00434	TGC	-	NULL		0.612	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAH1	protein_coding	OTTHUMT00000214077.2	G	NM_004315	-		17942299	-1	no_errors	ENST00000381733	ensembl	human	known	74_37	nonsense	SNP	0.000	T
TLE1	7088	genome.wustl.edu	37	9	84267176	84267176	+	Nonsense_Mutation	SNP	C	C	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr9:84267176C>A	ENST00000376499.3	-	6	1389	c.325G>T	c.(325-327)Gaa>Taa	p.E109*	TLE1_ENST00000376472.1_5'UTR|TLE1_ENST00000376463.1_Nonsense_Mutation_p.E53*	NM_005077.3	NP_005068.2	Q04724	TLE1_HUMAN	transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila)	109	Gln-rich.				multicellular organismal development (GO:0007275)|negative regulation of anoikis (GO:2000811)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of gene expression (GO:0010628)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription factor binding (GO:0008134)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TTGGCACGTTCAACAGCCTGG	0.448																																					NSCLC(155;1437 1995 30668 39354 45875)|Melanoma(16;266 781 14000 47728 51870)												0								ENSG00000196781						207.0	175.0	186.0					9																	84267176		2203	4300	6503	TLE1	SO:0001587	stop_gained	0			-	HGNC		CCDS6661.1	9q21.32	2013-01-10	2001-11-28		ENSG00000196781	ENSG00000196781		"""WD repeat domain containing"""	11837	protein-coding gene	gene with protein product	"""enhancer of split groucho 1"""	600189	"""transducin-like enhancer of split 1, homolog of Drosophila E(sp1)"""			8365415, 8808280	Standard	NM_005077		Approved	ESG1, GRG1, ESG	uc004aly.3	Q04724	OTTHUMG00000021008	ENST00000376499.3:c.325G>T	9.37:g.84267176C>A	ENSP00000365682:p.Glu109*	Somatic	0	32	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A8K495|Q5T3G4|Q969V9	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.E109*	ENST00000376499.3	37	c.325	CCDS6661.1	9	.	.	.	.	.	.	.	.	.	.	C	48	14.000932	0.99774	.	.	ENSG00000196781	ENST00000376499;ENST00000355002;ENST00000418319;ENST00000376463	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-22.2301	19.9017	0.96988	0.0:1.0:0.0:0.0	.	.	.	.	X	109;109;109;53	.	ENSP00000347102:E109X	E	-	1	0	TLE1	83456996	1.000000	0.71417	0.982000	0.44146	0.986000	0.74619	7.818000	0.86416	2.707000	0.92482	0.561000	0.74099	GAA	-	pfam_Groucho/TLE_N		0.448	TLE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE1	protein_coding	OTTHUMT00000055407.1	C	NM_005077	-		84267176	-1	no_errors	ENST00000376499	ensembl	human	known	74_37	nonsense	SNP	1.000	A
DNAH7	56171	genome.wustl.edu	37	2	196709754	196709754	+	Missense_Mutation	SNP	A	A	G			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr2:196709754A>G	ENST00000312428.6	-	47	9017	c.8917T>C	c.(8917-8919)Ttt>Ctt	p.F2973L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2973	AAA 5. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCAATGGAAAATGAGTCAGAA	0.343																																																	0								ENSG00000118997						84.0	76.0	78.0					2																	196709754		1833	4082	5915	DNAH7	SO:0001583	missense	0			-	HGNC	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.8917T>C	2.37:g.196709754A>G	ENSP00000311273:p.Phe2973Leu	Somatic	0	119	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	40	81	33.06	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom	p.F2973L	ENST00000312428.6	37	c.8917	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	A	28.1	4.894552	0.91962	.	.	ENSG00000118997	ENST00000312428	T	0.64438	-0.1	5.42	5.42	0.78866	.	0.000000	0.47093	U	0.000243	T	0.71298	0.3323	L	0.42529	1.33	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.66787	-0.5835	10	0.22706	T	0.39	.	15.2879	0.73843	1.0:0.0:0.0:0.0	.	2973	Q8WXX0	DYH7_HUMAN	L	2973	ENSP00000311273:F2973L	ENSP00000311273:F2973L	F	-	1	0	DNAH7	196417999	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	8.182000	0.89698	2.276000	0.75962	0.528000	0.53228	TTT	-	NULL		0.343	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	protein_coding	OTTHUMT00000335202.3	A	NM_018897	-		196709754	-1	no_errors	ENST00000312428	ensembl	human	known	74_37	missense	SNP	0.997	G
MUC5B	727897	genome.wustl.edu	37	11	1271489	1271489	+	Missense_Mutation	SNP	C	C	T	rs200985531	byFrequency	TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr11:1271489C>T	ENST00000529681.1	+	31	13437	c.13379C>T	c.(13378-13380)aCg>aTg	p.T4460M	MUC5B_ENST00000447027.1_Missense_Mutation_p.T4463M|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4460	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACCGTGACGGTGCCCACC	0.672													C|||	59	0.0117812	0.0182	0.0072	5008	,	,		19151	0.0		0.0249	False		,,,				2504	0.0051																0								ENSG00000117983	C	MET/THR	58,3848		0,58,1895	45.0	53.0	51.0		13379	-1.6	0.0	11		51	8,8168		0,8,4080	no	missense	MUC5B	NM_002458.2	81	0,66,5975	TT,TC,CC		0.0978,1.4849,0.5463	probably-damaging	4460/5763	1271489	66,12016	1953	4088	6041	MUC5B	SO:0001583	missense	0			-	HGNC	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13379C>T	11.37:g.1271489C>T	ENSP00000436812:p.Thr4460Met	Somatic	0	69	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	46	25.81	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T4463M	ENST00000529681.1	37	c.13388	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	4.282	0.051422	0.08291	0.014849	9.78E-4	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.27890	1.64;1.83	1.61	-1.6	0.08426	.	.	.	.	.	T	0.15696	0.0378	L	0.54323	1.7	0.09310	N	1	D;D	0.60160	0.987;0.987	B;B	0.37650	0.202;0.255	T	0.13019	-1.0525	9	0.87932	D	0	.	5.2016	0.15267	0.2312:0.5423:0.2265:0.0	.	4933;4463	A7Y9J9;E9PBJ0	.;.	M	4460;4463;4404;4310;239	ENSP00000436812:T4460M;ENSP00000415793:T4463M	ENSP00000343037:T4404M	T	+	2	0	MUC5B	1228065	0.011000	0.17503	0.000000	0.03702	0.028000	0.11728	2.803000	0.47924	-0.562000	0.06086	0.121000	0.15741	ACG	-	NULL		0.672	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	protein_coding	OTTHUMT00000390041.2	C	XM_001126093	rs200985531		1271489	+1	no_errors	ENST00000447027	ensembl	human	known	74_37	missense	SNP	0.001	T
CLMN	79789	genome.wustl.edu	37	14	95669657	95669657	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr14:95669657C>T	ENST00000298912.4	-	9	2142	c.2029G>A	c.(2029-2031)Gat>Aat	p.D677N		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	677					negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		TGGAGGTCATCGTCTTCTCCC	0.537																																																	0								ENSG00000165959						102.0	92.0	95.0					14																	95669657		2203	4300	6503	CLMN	SO:0001583	missense	0			-	HGNC	AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.2029G>A	14.37:g.95669657C>T	ENSP00000298912:p.Asp677Asn	Somatic	0	28	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	35	12.50	B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.D677N	ENST00000298912.4	37	c.2029	CCDS9933.1	14	.	.	.	.	.	.	.	.	.	.	C	12.76	2.035884	0.35893	.	.	ENSG00000165959	ENST00000298912	D	0.93019	-3.15	5.17	1.07	0.20283	.	0.773236	0.10952	N	0.615954	D	0.84999	0.5597	L	0.29908	0.895	0.09310	N	1	P	0.44006	0.824	B	0.33121	0.158	T	0.73186	-0.4062	10	0.26408	T	0.33	.	8.8266	0.35059	0.0:0.4806:0.4345:0.0848	.	677	Q96JQ2	CLMN_HUMAN	N	677	ENSP00000298912:D677N	ENSP00000298912:D677N	D	-	1	0	CLMN	94739410	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.277000	0.18734	0.243000	0.21327	-0.181000	0.13052	GAT	-	NULL		0.537	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	protein_coding	OTTHUMT00000414518.2	C		-		95669657	-1	no_errors	ENST00000298912	ensembl	human	known	74_37	missense	SNP	0.000	T
ZBED9	114821	genome.wustl.edu	37	6	28543119	28543119	+	Missense_Mutation	SNP	G	G	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr6:28543119G>A	ENST00000452236.2	-	3	1980	c.1363C>T	c.(1363-1365)Cca>Tca	p.P455S	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTCAATTCTGGCCAAATATTA	0.418																																																	0								ENSG00000232040						65.0	66.0	66.0					6																	28543119		2203	4300	6503	SCAND3	SO:0001583	missense	0			-	HGNC																												ENST00000452236.2:c.1363C>T	6.37:g.28543119G>A	ENSP00000395259:p.Pro455Ser	Somatic	0	47	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.P455S	ENST00000452236.2	37	c.1363	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	G	14.90	2.672295	0.47781	.	.	ENSG00000232040	ENST00000452236	T	0.01474	4.85	2.95	2.06	0.26882	Integrase, catalytic core (2);Ribonuclease H-like (1);	.	.	.	.	T	0.01254	0.0041	M	0.74258	2.255	0.26325	N	0.977619	B	0.32781	0.384	B	0.34093	0.175	T	0.37056	-0.9722	9	0.87932	D	0	.	7.6318	0.28243	0.1375:0.0:0.8625:0.0	.	455	Q6R2W3	SCND3_HUMAN	S	455	ENSP00000395259:P455S	ENSP00000395259:P455S	P	-	1	0	SCAND3	28651098	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.749000	0.38319	1.668000	0.50843	0.563000	0.77884	CCA	-	pfam_Integrase_cat-core,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core		0.418	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	protein_coding	OTTHUMT00000043551.3	G		-		28543119	-1	no_errors	ENST00000452236	ensembl	human	known	74_37	missense	SNP	1.000	A
GPR64	10149	genome.wustl.edu	37	X	19014264	19014264	+	Frame_Shift_Del	DEL	A	A	-			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chrX:19014264delA	ENST00000379869.3	-	27	2784	c.2621delT	c.(2620-2622)ttcfs	p.F874fs	GPR64_ENST00000356606.4_Frame_Shift_Del_p.F860fs|GPR64_ENST00000360279.4_Frame_Shift_Del_p.F852fs|GPR64_ENST00000340581.3_Frame_Shift_Del_p.F755fs|GPR64_ENST00000357544.3_Frame_Shift_Del_p.F844fs|GPR64_ENST00000357991.3_Frame_Shift_Del_p.F871fs|GPR64_ENST00000354791.3_Frame_Shift_Del_p.F858fs|GPR64_ENST00000379878.3_Frame_Shift_Del_p.F858fs|GPR64_ENST00000379873.2_Frame_Shift_Del_p.F874fs|GPR64_ENST00000379876.1_Frame_Shift_Del_p.F850fs	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	874					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GATGAATATGAAAAATCCTAA	0.363																																																	0								ENSG00000173698						86.0	88.0	87.0					X																	19014264		2203	4300	6503	GPR64	SO:0001589	frameshift_variant	0				HGNC	X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2621delT	X.37:g.19014264delA	ENSP00000369198:p.Phe874fs	Somatic	0	257	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	69	342	16.79	B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.F874fs	ENST00000379869.3	37	c.2621	CCDS43923.1	X																																																																																			-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like		0.363	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	protein_coding	OTTHUMT00000055970.2	A				19014264	-1	no_errors	ENST00000379869	ensembl	human	known	74_37	frame_shift_del	DEL	1.000	-
KRTAP12-2	353323	genome.wustl.edu	37	21	46086662	46086662	+	Missense_Mutation	SNP	C	C	T	rs200766354		TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr21:46086662C>T	ENST00000360770.3	-	1	182	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	48	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)		p.V48M(1)		central_nervous_system(1)|endometrium(1)|lung(3)	5						TTGAAGCTCACGGGCACACAC	0.657																																																	1	Substitution - Missense(1)	lung(1)						ENSG00000221864	C	,MET/VAL	0,4376		0,0,2188	63.0	71.0	68.0		,142	-1.7	0.0	21		68	1,8561		0,1,4280	no	intron,missense	TSPEAR,KRTAP12-2	NM_144991.2,NM_181684.2	,21	0,1,6468	TT,TC,CC		0.0117,0.0,0.0077	,possibly-damaging	,48/147	46086662	1,12937	2188	4281	6469	KRTAP12-2	SO:0001583	missense	0			-	HGNC	AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"""Keratin associated proteins"""	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.142G>A	21.37:g.46086662C>T	ENSP00000354001:p.Val48Met	Somatic	0	39	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	44	8.33	A6NIS1|A6NMS9|Q0VAS4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_KRTAP_PMG	p.V48M	ENST00000360770.3	37	c.142	CCDS42965.1	21	.	.	.	.	.	.	.	.	.	.	c	5.622	0.299395	0.10622	0.0	1.17E-4	ENSG00000221864	ENST00000360770	T	0.03035	4.07	2.57	-1.72	0.08107	.	.	.	.	.	T	0.04318	0.0119	M	0.69248	2.105	0.09310	N	1	B	0.24618	0.107	B	0.22386	0.039	T	0.43147	-0.9409	9	0.72032	D	0.01	.	0.9803	0.01434	0.169:0.2665:0.3333:0.2311	.	48	P59991	KR122_HUMAN	M	48	ENSP00000354001:V48M	ENSP00000354001:V48M	V	-	1	0	KRTAP12-2	44911090	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.566000	0.02148	-0.472000	0.06881	-1.474000	0.01003	GTG	-	pfam_KRTAP_PMG		0.657	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP12-2	protein_coding	OTTHUMT00000128039.1	C	NM_181684	rs200766354		46086662	-1	no_errors	ENST00000360770	ensembl	human	known	74_37	missense	SNP	0.000	T
TAX1BP1	8887	genome.wustl.edu	37	7	27856524	27856524	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr7:27856524C>T	ENST00000396319.2	+	15	2040	c.1952C>T	c.(1951-1953)gCt>gTt	p.A651V	TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A609V|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A675V|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A609V|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.A452V	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	651					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)	cytosol (GO:0005829)	kinase binding (GO:0019900)			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GCAGATGGTGCTTTTTACCCA	0.418																																																	0								ENSG00000106052						54.0	56.0	56.0					7																	27856524		2203	4300	6503	TAX1BP1	SO:0001583	missense	0			-	HGNC	U33821	CCDS5415.1, CCDS43561.1, CCDS56471.1	7p15	2010-08-05			ENSG00000106052	ENSG00000106052			11575	protein-coding gene	gene with protein product		605326				10435631	Standard	NM_006024		Approved	TXBP151, CALCOCO3	uc003szl.3	Q86VP1	OTTHUMG00000023377	ENST00000396319.2:c.1952C>T	7.37:g.27856524C>T	ENSP00000379612:p.Ala651Val	Somatic	0	37	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	37	9.76	B4DKU7|E7ENV2|O60398|O95770|Q13311|Q9BQG5|Q9UI88	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CoCoA	p.A651V	ENST00000396319.2	37	c.1952	CCDS5415.1	7	.	.	.	.	.	.	.	.	.	.	C	23.2	4.393406	0.83011	.	.	ENSG00000106052	ENST00000543117;ENST00000265393;ENST00000409980;ENST00000433216;ENST00000396319;ENST00000457186	T;T;T;T;T	0.38240	2.53;2.53;2.7;1.15;2.41	5.91	5.02	0.67125	.	0.000000	0.53938	D	0.000060	T	0.57873	0.2083	M	0.63843	1.955	0.41022	D	0.98508	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.75020	0.985;0.979;0.973	T	0.61686	-0.7012	10	0.56958	D	0.05	-7.9258	16.5233	0.84322	0.1318:0.8682:0.0:0.0	.	452;651;609	E7ENV2;Q86VP1;Q86VP1-2	.;TAXB1_HUMAN;.	V	609;609;675;452;651;188	ENSP00000444811:A609V;ENSP00000265393:A609V;ENSP00000386515:A675V;ENSP00000391907:A452V;ENSP00000379612:A651V	ENSP00000265393:A609V	A	+	2	0	TAX1BP1	27823049	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.128000	0.50492	1.491000	0.48482	0.655000	0.94253	GCT	-	NULL		0.418	TAX1BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAX1BP1	protein_coding	OTTHUMT00000214142.1	C	NM_006024	-		27856524	+1	no_errors	ENST00000396319	ensembl	human	known	74_37	missense	SNP	1.000	T
NRXN1	9378	genome.wustl.edu	37	2	50147836	50147841	+	3'UTR	DEL	GTGTGT	GTGTGT	-	rs200264093|rs201814381|rs199597709|rs368179294|rs200969250|rs66612444		TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	GTGTGT	GTGTGT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr2:50147836_50147841delGTGTGT	ENST00000406316.2	-	0	7151_7156				NRXN1_ENST00000404971.1_3'UTR|NRXN1_ENST00000401710.1_3'UTR|NRXN1_ENST00000342183.5_3'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTGTGGATTCgtgtgtgtgtgtgtgt	0.398																																																	0								ENSG00000179915																																			NRXN1	SO:0001624	3_prime_UTR_variant	0				HGNC	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.*1246ACACAC>-	2.37:g.50147842_50147847delGTGTGT		Somatic	NA	NA	NA		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000406316.2	37	NULL	CCDS54360.1	2																																																																																			-	-		0.398	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	protein_coding	OTTHUMT00000325291.2	GTGTGT				50147841	-1	no_errors	ENST00000484192	ensembl	human	known	74_37	rna	DEL	0.000:0.001:0.005:0.106:0.113:0.127	-
SGOL1	151648	genome.wustl.edu	37	3	20216049	20216050	+	Frame_Shift_Ins	INS	-	-	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr3:20216049_20216050insT	ENST00000263753.4	-	6	1112_1113	c.973_974insA	c.(973-975)atgfs	p.M325fs	SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000443724.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000437051.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000412868.1_Frame_Shift_Ins_p.M325fs|SGOL1_ENST00000421451.1_Frame_Shift_Ins_p.M325fs|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000412997.1_Frame_Shift_Ins_p.M325fs|SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000306698.2_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	325					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						AGATTTGTGCATTTTTTTTTGG	0.317																																																	0								ENSG00000129810																																			SGOL1	SO:0001589	frameshift_variant	0				HGNC	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.974dupA	3.37:g.20216058_20216058dupT	ENSP00000263753:p.Met325fs	Somatic	0	22	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	20	13.04	Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Shugoshin_N,pfam_Shugoshin_C	p.M325fs	ENST00000263753.4	37	c.974_973	CCDS33716.1	3																																																																																			-	NULL		0.317	SGOL1-009	KNOWN	basic|CCDS	protein_coding	SGOL1	protein_coding	OTTHUMT00000340498.1	-	NM_138484			20216050	-1	no_errors	ENST00000263753	ensembl	human	known	74_37	frame_shift_ins	INS	0.002:0.000	T
ZAN	7455	genome.wustl.edu	37	7	100366301	100366301	+	RNA	SNP	C	C	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr7:100366301C>A	ENST00000348028.3	+	0	5275				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CGATTCCATGCAGCTGGGGGC	0.597																																																	0								ENSG00000146839						24.0	24.0	24.0					7																	100366301		1856	4086	5942	ZAN			0			-	HGNC	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100366301C>A		Somatic	0	59	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	80	8.05	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.Q1704K	ENST00000348028.3	37	c.5110		7	.	.	.	.	.	.	.	.	.	.	C	9.962	1.223117	0.22457	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585;ENST00000546213	T;T;T;T	0.21543	2.54;2.53;2.5;2.0	4.17	0.0122	0.14090	von Willebrand factor, type D domain (1);	1.249330	0.05915	N	0.632460	T	0.15825	0.0381	L	0.41906	1.305	0.09310	N	1	B;B	0.20550	0.046;0.027	B;B	0.18263	0.021;0.009	T	0.32107	-0.9919	10	0.33940	T	0.23	.	3.4194	0.07388	0.1617:0.43:0.3134:0.0949	.	1704;1704	F5H0T8;Q9Y493	.;ZAN_HUMAN	K	1704;1704;1704;281	ENSP00000445943:Q1704K;ENSP00000445091:Q1704K;ENSP00000444427:Q1704K;ENSP00000441117:Q281K	ENSP00000423579:Q1704K	Q	+	1	0	ZAN	100204237	0.000000	0.05858	0.004000	0.12327	0.049000	0.14656	0.045000	0.14013	-0.121000	0.11787	0.655000	0.94253	CAG	-	NULL		0.597	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386	-		100366301	+1	no_errors	ENST00000546292	ensembl	human	known	74_37	missense	SNP	0.150	A
ICAM5	7087	genome.wustl.edu	37	19	10401797	10401797	+	Silent	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr19:10401797C>T	ENST00000221980.4	+	2	195	c.132C>T	c.(130-132)ttC>ttT	p.F44F	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM5_ENST00000586004.1_3'UTR	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	44					phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCGTGGCGTTCGTGGAGCGCG	0.697																																																	0								ENSG00000105376						15.0	17.0	16.0					19																	10401797		2190	4270	6460	ICAM5	SO:0001819	synonymous_variant	0			-	HGNC	U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.132C>T	19.37:g.10401797C>T		Somatic	0	61	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	40	29.82	Q9Y6F3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_ICAM_N,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_ICAM_VCAM_N,prints_ICAM	p.F44	ENST00000221980.4	37	c.132	CCDS12233.1	19																																																																																			-	pfam_ICAM_N,prints_ICAM_VCAM_N		0.697	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	protein_coding	OTTHUMT00000451217.1	C	NM_003259	-		10401797	+1	no_errors	ENST00000221980	ensembl	human	known	74_37	silent	SNP	0.963	T
ERC2	26059	genome.wustl.edu	37	3	55544547	55544547	+	3'UTR	SNP	G	G	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr3:55544547G>T	ENST00000288221.6	-	0	3926				ERC2_ENST00000486496.1_5'UTR	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2							cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		ATAAAATTATGAATGATCAAT	0.438																																																	0								ENSG00000187672																																			ERC2	SO:0001624	3_prime_UTR_variant	0			-	HGNC	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.*797C>A	3.37:g.55544547G>T		Somatic	0	33	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	47	9.62	Q2T9F6|Q86TK4	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000288221.6	37	NULL	CCDS46851.1	3																																																																																			-	-		0.438	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERC2	protein_coding	OTTHUMT00000350884.2	G	NM_015576	-		55544547	-1	no_errors	ENST00000484530	ensembl	human	known	74_37	rna	SNP	0.346	T
ICAM3	3385	genome.wustl.edu	37	19	10444141	10444141	+	IGR	SNP	G	G	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr19:10444141G>A	ENST00000160262.5	-	0	1934				RAVER1_ENST00000293677.6_Missense_Mutation_p.P32S	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3						extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CCAGACTTAGGGCTCAGCGGG	0.692																																																	0								ENSG00000161847						24.0	30.0	28.0					19																	10444141		1833	4065	5898	RAVER1	SO:0001628	intergenic_variant	0			-	HGNC		CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942			19.37:g.10444141G>A		Somatic	0	55	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	46	25.81	Q6PD68	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P32S	ENST00000160262.5	37	c.94	CCDS12235.1	19	.	.	.	.	.	.	.	.	.	.	G	25.2	4.608848	0.87258	.	.	ENSG00000161847	ENST00000293677;ENST00000331131	T	0.11604	2.76	4.64	4.64	0.57946	.	0.284658	0.31601	N	0.007361	T	0.18087	0.0434	N	0.19112	0.55	0.36691	D	0.8796	D	0.63880	0.993	D	0.72982	0.979	T	0.12116	-1.0560	10	0.44086	T	0.13	-41.851	13.455	0.61193	0.0:0.0:1.0:0.0	.	32	E9PAU2	.	S	32;15	ENSP00000293677:P32S	ENSP00000293677:P32S	P	-	1	0	RAVER1	10305141	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	4.839000	0.62810	2.328000	0.79073	0.549000	0.68633	CCT	-	NULL		0.692	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAVER1	protein_coding	OTTHUMT00000451234.1	G		-		10444141	-1	no_errors	ENST00000293677	ensembl	human	known	74_37	missense	SNP	1.000	A
FLNA	2316	genome.wustl.edu	37	X	153590144	153590144	+	Silent	SNP	G	G	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chrX:153590144G>A	ENST00000369850.3	-	20	3074	c.2838C>T	c.(2836-2838)ggC>ggT	p.G946G	FLNA_ENST00000422373.1_Silent_p.G946G|FLNA_ENST00000344736.4_Silent_p.G946G|FLNA_ENST00000360319.4_Silent_p.G946G	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	946					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACATTGACGCCTACTGGAC	0.572																																																	0								ENSG00000196924						72.0	69.0	70.0					X																	153590144		1933	4112	6045	FLNA	SO:0001819	synonymous_variant	0			-	HGNC	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2838C>T	X.37:g.153590144G>A		Somatic	0	37	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	22	31.25	E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.G946	ENST00000369850.3	37	c.2838	CCDS48194.1	X																																																																																			-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.572	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	protein_coding	OTTHUMT00000058942.3	G		-		153590144	-1	no_errors	ENST00000369850	ensembl	human	known	74_37	silent	SNP	0.001	A
CLASRP	11129	genome.wustl.edu	37	19	45567607	45567609	+	In_Frame_Del	DEL	CTC	CTC	-	rs559550271		TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	CTC	CTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr19:45567607_45567609delCTC	ENST00000221455.3	+	13	1226_1228	c.1128_1130delCTC	c.(1126-1131)cgctcc>cgc	p.S385del	CLASRP_ENST00000544944.2_In_Frame_Del_p.S385del|CLASRP_ENST00000391953.4_In_Frame_Del_p.S323del	NM_007056.2	NP_008987	Q8N2M8	CLASR_HUMAN	CLK4-associating serine/arginine rich protein	385	Arg-rich.|Ser-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|pancreas(2)|prostate(1)	16						GCAGCCGCCGctcctcctcctcc	0.744																																																	0								ENSG00000104859			8,94,3280		1,0,6,8,78,1598						4.4	1.0			5	17,209,6522		2,0,13,25,159,3175	no	codingComplex	CLASRP	NM_007056.2		3,0,19,33,237,4773	A1A1,A1A2,A1R,A2A2,A2R,RR		3.3491,3.016,3.2379				25,303,9802				CLASRP	SO:0001651	inframe_deletion	0				HGNC	AF042800	CCDS12652.2, CCDS62710.1	19q13.3	2010-09-21	2010-09-21	2010-09-21	ENSG00000104859	ENSG00000104859			17731	protein-coding gene	gene with protein product	"""Clk4 associating SR-related protein"""		"""splicing factor, arginine/serine-rich 16"""	SFRS16		12169693	Standard	NM_007056		Approved	SWAP2, CLASP	uc002pak.3	Q8N2M8	OTTHUMG00000150189	ENST00000221455.3:c.1128_1130delCTC	19.37:g.45567616_45567618delCTC	ENSP00000221455:p.Ser385del	Somatic	0	28	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	7	22.22	B4DDT8|F8WAG9|O96026|Q6UW71|Q96DX2	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_SWAP_N_domain	p.S380in_frame_del	ENST00000221455.3	37	c.1128_1130	CCDS12652.2	19																																																																																			-	NULL		0.744	CLASRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLASRP	protein_coding	OTTHUMT00000316749.1	CTC	NM_007056			45567609	+1	no_errors	ENST00000221455	ensembl	human	known	74_37	in_frame_del	DEL	1.000:1.000:1.000	-
ANAPC5	51433	genome.wustl.edu	37	12	121766222	121766222	+	Missense_Mutation	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr12:121766222C>T	ENST00000261819.3	-	10	1322	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	ANAPC5_ENST00000541887.1_Missense_Mutation_p.A388T|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A67T|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A289T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.A289T|ANAPC5_ENST00000544314.1_5'UTR	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	401					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase binding (GO:0019903)			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCCTTTAGGGCATCCATCAGC	0.537																																																	0								ENSG00000089053						153.0	118.0	130.0					12																	121766222		2203	4300	6503	ANAPC5	SO:0001583	missense	0			-	HGNC	AF191339	CCDS9220.1, CCDS45000.1	12q24.31	2014-08-12			ENSG00000089053	ENSG00000089053		"""Anaphase promoting complex subunits"""	15713	protein-coding gene	gene with protein product		606948				9469815	Standard	NM_016237		Approved	APC5	uc001uag.3	Q9UJX4	OTTHUMG00000169157	ENST00000261819.3:c.1201G>A	12.37:g.121766222C>T	ENSP00000261819:p.Ala401Thr	Somatic	0	47	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	35	23.91	E9PFB2|Q8N4H7|Q9BQD4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_TPR_repeat	p.A401T	ENST00000261819.3	37	c.1201	CCDS9220.1	12	.	.	.	.	.	.	.	.	.	.	C	28.3	4.907914	0.92107	.	.	ENSG00000089053	ENST00000441917;ENST00000541887;ENST00000261819;ENST00000535482;ENST00000544314;ENST00000344395	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	T	0.65943	0.2740	L	0.41236	1.265	0.80722	D	1	D;D;D;D	0.69078	0.991;0.996;0.992;0.997	P;P;P;D	0.65140	0.805;0.851;0.903;0.932	T	0.56848	-0.7911	9	0.12766	T	0.61	.	18.9239	0.92537	0.0:1.0:0.0:0.0	.	67;3;289;401	F5H0N1;B4DFK4;E9PFB2;Q9UJX4	.;.;.;APC5_HUMAN	T	289;388;401;67;3;289	.	ENSP00000261819:A401T	A	-	1	0	ANAPC5	120250605	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.077000	0.76814	2.715000	0.92844	0.655000	0.94253	GCC	-	NULL		0.537	ANAPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC5	protein_coding	OTTHUMT00000402582.1	C		-		121766222	-1	no_errors	ENST00000261819	ensembl	human	known	74_37	missense	SNP	1.000	T
HNRNPCL1	343069	genome.wustl.edu	37	1	12907358	12907358	+	Missense_Mutation	SNP	T	T	C	rs74587302|rs559905244	byFrequency	TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr1:12907358T>C	ENST00000317869.6	-	2	1010	c.785A>G	c.(784-786)cAg>cGg	p.Q262R		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	262						nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GTCATCCCCCTGATCTTCATT	0.498																																																	0								ENSG00000179172						143.0	157.0	152.0					1																	12907358		2203	4300	6503	HNRNPCL1	SO:0001583	missense	0			-	HGNC	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.785A>G	1.37:g.12907358T>C	ENSP00000365370:p.Gln262Arg	Somatic	0	42	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	B2RP44	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom	p.Q262R	ENST00000317869.6	37	c.785	CCDS30591.1	1	.	.	.	.	.	.	.	.	.	.	.	0.006	-2.089806	0.00367	.	.	ENSG00000179172	ENST00000317869	T	0.09445	2.98	0.343	-0.686	0.11324	.	2.239460	0.02976	N	0.145045	T	0.04724	0.0128	N	0.02830	-0.485	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.33650	-0.9860	10	0.33940	T	0.23	.	3.9448	0.09344	0.0:0.3889:0.0:0.6111	.	262	O60812	HNRCL_HUMAN	R	262	ENSP00000365370:Q262R	ENSP00000365370:Q262R	Q	-	2	0	HNRNPCL1	12829945	0.213000	0.23551	0.005000	0.12908	0.003000	0.03518	0.096000	0.15147	-0.605000	0.05753	-0.620000	0.04034	CAG	-	pirsf_hnRNP_C_Raly		0.498	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPCL1	protein_coding	OTTHUMT00000005462.1	T	NM_001013631	rs74587302		12907358	-1	no_errors	ENST00000317869	ensembl	human	known	74_37	missense	SNP	0.036	C
ZNF503	84858	genome.wustl.edu	37	10	77161101	77161106	+	In_Frame_Del	DEL	CCGCCT	CCGCCT	-	rs533859340|rs374168185	byFrequency	TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	CCGCCT	CCGCCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr10:77161101_77161106delCCGCCT	ENST00000372524.4	-	1	558_563	c.72_77delAGGCGG	c.(70-78)ggaggcggc>ggc	p.24_26GGG>G	ZNF503-AS2_ENST00000466942.2_RNA|RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503-AS2_ENST00000425916.3_RNA|ZNF503_ENST00000535216.1_In_Frame_Del_p.24_26GGG>G|ZNF503-AS2_ENST00000486015.1_RNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	24	Gly-rich.				G1 to G0 transition involved in cell differentiation (GO:0070315)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|neural precursor cell proliferation (GO:0061351)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GTCTGCAccgccgcctccgcctccgc	0.718														484	0.0966454	0.3336	0.0331	5008	,	,		10238	0.0		0.006	False		,,,				2504	0.0143																0								ENSG00000165655			455,1781		166,123,829						2.8	0.0		dbSNP_120	4	28,4994		4,20,2487	no	coding	ZNF503	NM_032772.4		170,143,3316	A1A1,A1R,RR		0.5575,20.3488,6.6547				483,6775				ZNF503	SO:0001651	inframe_deletion	0				HGNC	AK127647	CCDS7350.1	10q22.3	2011-02-09			ENSG00000165655	ENSG00000165655		"""Zinc fingers, C2H2-type"""	23589	protein-coding gene	gene with protein product		613902				12477932	Standard	NM_032772		Approved	FLJ45745, MGC2555	uc001jxg.3	Q96F45	OTTHUMG00000018526	ENST00000372524.4:c.72_77delAGGCGG	10.37:g.77161107_77161112delCCGCCT	ENSP00000361602:p.Gly26_Gly27del	Somatic	NA	NA	NA		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q8NAC5|Q96E25|Q96IJ0	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2	p.GG26in_frame_del	ENST00000372524.4	37	c.77_72	CCDS7350.1	10																																																																																			-	NULL		0.718	ZNF503-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF503	protein_coding	OTTHUMT00000048826.1	CCGCCT	NM_032772			77161106	-1	no_errors	ENST00000372524	ensembl	human	known	74_37	in_frame_del	DEL	0.963:0.956:0.985:0.989:0.990:0.996	-
PRUNE2	158471	genome.wustl.edu	37	9	79259430	79259430	+	Intron	SNP	G	G	A			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr9:79259430G>A	ENST00000376718.3	-	12	8852				PRUNE2_ENST00000428286.1_Intron|PRUNE2_ENST00000466266.2_Intron|PRUNE2_ENST00000223609.6_Intron|PRUNE2_ENST00000443509.2_Intron	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)						apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TATGTAGCATGAAAAGCCCGT	0.328																																																	0								ENSG00000106772																																			PRUNE2	SO:0001627	intron_variant	0			-	HGNC	BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.8728+224C>T	9.37:g.79259430G>A		Somatic	0	15	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	11	26.67	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000376718.3	37	NULL	CCDS47982.1	9																																																																																			-	-		0.328	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	protein_coding	OTTHUMT00000052730.2	G	NM_138818	-		79259430	-1	no_errors	ENST00000488346	ensembl	human	known	74_37	rna	SNP	0.000	A
PABPC4	8761	genome.wustl.edu	37	1	40030124	40030124	+	Intron	SNP	C	C	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr1:40030124C>T	ENST00000372857.3	-	10	2198				SNORA55_ENST00000364587.1_RNA|PABPC4_ENST00000372858.3_Missense_Mutation_p.R475H|PABPC4_ENST00000372856.3_Missense_Mutation_p.R475H|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000372862.3_Intron	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)						blood coagulation (GO:0007596)|RNA catabolic process (GO:0006401)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGGGAGGCCACGAGAGGCCGG	0.577																																																	0								ENSG00000090621						94.0	92.0	93.0					1																	40030124		2203	4300	6503	PABPC4	SO:0001627	intron_variant	0			-	HGNC	U33818	CCDS438.1, CCDS44114.1, CCDS44115.1	1p34.2	2013-02-12	2001-11-28		ENSG00000090621	ENSG00000090621		"""RNA binding motif (RRM) containing"""	8557	protein-coding gene	gene with protein product		603407	"""poly(A)-binding protein, cytoplasmic 4 (inducible form)"""			10543404	Standard	NM_001135653		Approved	iPABP, APP-1	uc001cdl.2	Q13310	OTTHUMG00000009097	ENST00000372857.3:c.1405+18G>A	1.37:g.40030124C>T		Somatic	0	33	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	B1ANQ8|Q4VC03|Q6P0N3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234	p.R475H	ENST00000372857.3	37	c.1424	CCDS438.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.981251|3.981251	0.74474|0.74474	.|.	.|.	ENSG00000090621|ENSG00000090621	ENST00000372858;ENST00000372856|ENST00000437136;ENST00000421687;ENST00000527718	T;T|.	0.15718|.	2.53;2.4|.	5.94|5.94	4.07|4.07	0.47477|0.47477	.|.	0.164390|.	0.53938|.	D|.	0.000055|.	T|T	0.36303|0.36303	0.0962|0.0962	N|N	0.08118|0.08118	0|0	0.44890|0.44890	D|D	0.997902|0.997902	B;B|.	0.16166|.	0.012;0.016|.	B;B|.	0.16289|.	0.015;0.006|.	T|T	0.18398|0.18398	-1.0338|-1.0338	10|5	0.14252|.	T|.	0.57|.	.|.	13.0379|13.0379	0.58882|0.58882	0.0:0.8688:0.0:0.1312|0.0:0.8688:0.0:0.1312	.|.	475;475|.	Q13310-2;Q4VC03|.	.;.|.	H|M	475|14;377;197	ENSP00000361949:R475H;ENSP00000361947:R475H|.	ENSP00000361947:R475H|.	R|V	-|-	2|1	0|0	PABPC4|PABPC4	39802711|39802711	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.046000|5.046000	0.64226|0.64226	1.534000|1.534000	0.49203|0.49203	0.561000|0.561000	0.74099|0.74099	CGT|GTG	-	tigrfam_PABP_1234		0.577	PABPC4-001	KNOWN	basic|CCDS	protein_coding	PABPC4	protein_coding	OTTHUMT00000025220.1	C	NM_001135653	-		40030124	-1	no_errors	ENST00000372858	ensembl	human	known	74_37	missense	SNP	1.000	T
DNAH8	1769	genome.wustl.edu	37	6	38994431	38994431	+	Silent	SNP	G	G	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr6:38994431G>T	ENST00000359357.3	+	90	13427	c.13173G>T	c.(13171-13173)acG>acT	p.T4391T	DNAH8_ENST00000441566.1_Silent_p.T4355T			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	4391					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGGAGATCACGTCACCCCCTG	0.532																																																	0								ENSG00000124721						111.0	84.0	93.0					6																	38994431		2203	4300	6503	DNAH8	SO:0001819	synonymous_variant	0			-	HGNC	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.13173G>T	6.37:g.38994431G>T		Somatic	0	28	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	7	31	18.42	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.T4391	ENST00000359357.3	37	c.13173		6																																																																																			-	pfam_Dynein_heavy_dom		0.532	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	G	NM_001206927	-		38994431	+1	no_errors	ENST00000359357	ensembl	human	known	74_37	silent	SNP	0.000	T
ROS1	6098	genome.wustl.edu	37	6	117718264	117718264	+	Missense_Mutation	SNP	G	G	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr6:117718264G>T	ENST00000368508.3	-	7	791	c.593C>A	c.(592-594)cCt>cAt	p.P198H	ROS1_ENST00000368507.3_Missense_Mutation_p.P207H|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	198	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.P198L(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCTAATCAAAGGTGCAGTTTC	0.393			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	1	Substitution - Missense(1)	lung(1)						ENSG00000047936						79.0	79.0	79.0					6																	117718264		2203	4300	6503	ROS1	SO:0001583	missense	0			-	HGNC	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.593C>A	6.37:g.117718264G>T	ENSP00000357494:p.Pro198His	Somatic	0	45	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	Q15368|Q5TDB5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P198H	ENST00000368508.3	37	c.593	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	G	19.92	3.917216	0.73098	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	T;T	0.63744	-0.06;-0.06	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000003	T	0.81508	0.4837	M	0.90595	3.13	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84558	0.0648	10	0.87932	D	0	.	18.8227	0.92103	0.0:0.0:1.0:0.0	.	198	P08922	ROS1_HUMAN	H	198;207	ENSP00000357494:P198H;ENSP00000357493:P207H	ENSP00000357493:P207H	P	-	2	0	ROS1	117824957	1.000000	0.71417	0.980000	0.43619	0.885000	0.51271	7.152000	0.77419	2.762000	0.94881	0.650000	0.86243	CCT	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.393	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	protein_coding	OTTHUMT00000043464.1	G		-		117718264	-1	no_errors	ENST00000368508	ensembl	human	known	74_37	missense	SNP	1.000	T
NEIL3	55247	genome.wustl.edu	37	4	178262628	178262628	+	Splice_Site	SNP	A	A	T			TCGA-3B-A9HU-01A-11D-A38Z-09	TCGA-3B-A9HU-10A-01D-A38Z-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67fce992-e09f-4bde-b216-e9516a3bf796	74be41ea-729b-4b31-8c99-add92e25b393	g.chr4:178262628A>T	ENST00000264596.3	+	6	820		c.e6-1		RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)						base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		TTTTTTTTTTAGTGCCGTAAA	0.413								Base excision repair (BER), DNA glycosylases																																									0								ENSG00000109674						45.0	48.0	47.0					4																	178262628		2203	4300	6503	NEIL3	SO:0001630	splice_region_variant	0			-	HGNC	AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.703-1A>T	4.37:g.178262628A>T		Somatic	0	57	0.00		0.5960126379604112	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	46	11.32	Q2PPJ3|Q8NG51|Q9NV95	Splice_Site	SNP	NA	NA	NA	NA	NA	NA	-	e6-2	ENST00000264596.3	37	c.703-2	CCDS3828.1	4	.	.	.	.	.	.	.	.	.	.	A	13.96	2.391993	0.42410	.	.	ENSG00000109674	ENST00000264596	.	.	.	5.36	5.36	0.76844	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3517	0.74393	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEIL3	178499622	1.000000	0.71417	0.708000	0.30435	0.466000	0.32739	8.677000	0.91203	2.030000	0.59900	0.533000	0.62120	.	-	-		0.413	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL3	protein_coding	OTTHUMT00000361914.1	A	NM_018248	-	Intron	178262628	+1	no_errors	ENST00000264596	ensembl	human	known	74_37	splice_site	SNP	0.980	T
