#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_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_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_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	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_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
EPAS1	2034	genome.wustl.edu	37	2	46611675	46611675	+	Missense_Mutation	SNP	C	C	T			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr2:46611675C>T	ENST00000263734.3	+	16	2999	c.2489C>T	c.(2488-2490)tCa>tTa	p.S830L		NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	830	CTAD.				angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to hypoxia (GO:0071456)|embryonic placenta development (GO:0001892)|erythrocyte differentiation (GO:0030218)|lung development (GO:0030324)|mitochondrion organization (GO:0007005)|myoblast fate commitment (GO:0048625)|norepinephrine metabolic process (GO:0042415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart rate (GO:0002027)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|surfactant homeostasis (GO:0043129)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|histone acetyltransferase binding (GO:0035035)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTCGGGCCCTCATTTGAGTCC	0.537																																							0											0													99.0	103.0	101.0					2																	46611675		2203	4300	6503	SO:0001583	missense	0			U81984	CCDS1825.1	2p21-p16	2013-05-21			ENSG00000116016	ENSG00000116016		"""Basic helix-loop-helix proteins"""	3374	protein-coding gene	gene with protein product	"""HIF-1 alpha-like factor"""	603349				9000051, 9079689, 18378852	Standard	NM_001430		Approved	MOP2, PASD2, HIF2A, HLF, bHLHe73	uc002ruv.3	Q99814	OTTHUMG00000128818	ENST00000263734.3:c.2489C>T	2.37:g.46611675C>T	ENSP00000263734:p.Ser830Leu		Q86VA2|Q99630	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS	p.S830L	ENST00000263734.3	37	c.2489	CCDS1825.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.696182	0.96802	.	.	ENSG00000116016	ENST00000263734	T	0.60672	0.17	5.54	5.54	0.83059	.	0.837683	0.10799	N	0.632905	T	0.62196	0.2408	N	0.08118	0	0.80722	D	1	D	0.71674	0.998	D	0.66979	0.948	T	0.68903	-0.5286	10	0.66056	D	0.02	.	19.4917	0.95052	0.0:1.0:0.0:0.0	.	830	Q99814	EPAS1_HUMAN	L	830	ENSP00000263734:S830L	ENSP00000263734:S830L	S	+	2	0	EPAS1	46465179	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	7.814000	0.86154	2.589000	0.87451	0.655000	0.94253	TCA	0	NULL		0.537	EPAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPAS1	protein_coding	OTTHUMT00000250752.2	23	176	0	0.00	0	0	C	NM_001430	0	0		46611675	1	no_errors	ENST00000263734	ensembl	human	known	74_37	missense	15	133	31.82	14.19	7	22	SNP	1	T
REV1	51455	genome.wustl.edu	37	2	100020920	100020920	+	Missense_Mutation	SNP	G	G	A			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr2:100020920G>A	ENST00000258428.3	-	18	3260	c.3032C>T	c.(3031-3033)cCa>cTa	p.P1011L	RP11-527J8.1_ENST00000608144.1_RNA|REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.P1010L	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	1011					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAAAATGCTGGAAGGGCTAT	0.433								Direct reversal of damage																															0											0													126.0	127.0	127.0					2																	100020920		2203	4300	6503	SO:0001583	missense	0			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.3032C>T	2.37:g.100020920G>A	ENSP00000258428:p.Pro1011Leu		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.P1011L	ENST00000258428.3	37	c.3032	CCDS2045.1	2	.	.	.	.	.	.	.	.	.	.	G	29.8	5.039410	0.93630	.	.	ENSG00000135945	ENST00000393445;ENST00000258428	T;T	0.55413	0.52;0.54	5.6	5.6	0.85130	.	0.048018	0.85682	D	0.000000	T	0.70369	0.3216	M	0.73598	2.24	0.80722	D	1	D;D	0.69078	0.972;0.997	P;D	0.65773	0.573;0.938	T	0.63497	-0.6624	10	0.13108	T	0.6	.	19.9659	0.97266	0.0:0.0:1.0:0.0	.	1011;1010	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	L	1010;1011	ENSP00000377091:P1010L;ENSP00000258428:P1011L	ENSP00000258428:P1011L	P	-	2	0	REV1	99387352	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.170000	0.77587	2.802000	0.96397	0.650000	0.86243	CCA	0	pirsf_REV1		0.433	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	protein_coding	OTTHUMT00000253123.2	83	295	0	0.00	0	0	G	NM_016316	0	0		100020920	-1	no_errors	ENST00000258428	ensembl	human	known	74_37	missense	62	204	23.46	16.73	19	41	SNP	1	A
FAT4	79633	genome.wustl.edu	37	4	126370429	126370429	+	Missense_Mutation	SNP	A	A	T			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr4:126370429A>T	ENST00000394329.3	+	9	8271	c.8258A>T	c.(8257-8259)cAg>cTg	p.Q2753L	FAT4_ENST00000335110.5_Missense_Mutation_p.Q1051L	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2753	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TCCCCGTCTCAGAGTACTTCA	0.388																																							0											0													75.0	79.0	77.0					4																	126370429		2203	4300	6503	SO:0001583	missense	0			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.8258A>T	4.37:g.126370429A>T	ENSP00000377862:p.Gln2753Leu		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.Q2753L	ENST00000394329.3	37	c.8258	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	A	8.027	0.760972	0.15914	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.00792	5.69;5.69	5.61	0.619	0.17630	Cadherin (4);Cadherin-like (1);	0.000000	0.33092	U	0.005284	T	0.00328	0.0010	N	0.00385	-1.57	0.42316	D	0.992232	B;B;P	0.45348	0.372;0.009;0.856	B;B;P	0.46026	0.163;0.017;0.501	T	0.69394	-0.5157	10	0.07325	T	0.83	.	8.9677	0.35887	0.6396:0.0:0.3604:0.0	.	1051;2753;2753	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	L	2753;1051	ENSP00000377862:Q2753L;ENSP00000335169:Q1051L	ENSP00000335169:Q1051L	Q	+	2	0	FAT4	126589879	1.000000	0.71417	0.988000	0.46212	0.666000	0.39218	4.404000	0.59735	0.163000	0.19507	0.533000	0.62120	CAG	0	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.388	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	protein_coding	OTTHUMT00000256765.2	42	266	0	0.00	0	0	A	NM_024582	0	0		126370429	1	no_errors	ENST00000394329	ensembl	human	known	74_37	missense	56	168	12.5	12.95	8	25	SNP	0.996	T
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H|GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	374	155	0	0.00	0	0	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	272	67	22.29	24.72	78	22	SNP	1	A
YTHDF3	253943	genome.wustl.edu	37	8	64124330	64124330	+	3'UTR	SNP	G	G	T			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr8:64124330G>T	ENST00000517371.1	+	0	2449				YTHDF3_ENST00000542911.2_3'UTR|YTHDF3_ENST00000539294.1_3'UTR|YTHDF3_ENST00000521674.1_3'UTR			Q7Z739	YTHD3_HUMAN	YTH domain family, member 3								N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			aaatgtaattgagagtctatt	0.368																																							0											0																																										SO:0001624	3_prime_UTR_variant	0			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000517371.1:c.*2066G>T	8.37:g.64124330G>T			B3KXL4|Q63Z37|Q659A3	RNA	SNP	0	NULL	ENST00000517371.1	37	NULL		8																																																																																			0	0		0.368	YTHDF3-010	PUTATIVE	basic	protein_coding	YTHDF3	protein_coding	OTTHUMT00000378466.4	55	315	0	0.00	0	0	G	NM_152758	0	0		64124330	1	no_errors	ENST00000521674	ensembl	human	known	74_37	rna	50	168	20.63	26.32	13	60	SNP	0	T
GRID1	2894	genome.wustl.edu	37	10	87362204	87362204	+	Silent	SNP	C	C	T	rs200390116	byFrequency	TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr10:87362204C>T	ENST00000327946.7	-	16	2941	c.2856G>A	c.(2854-2856)ccG>ccA	p.P952P	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Silent_p.P523P|RP11-93H12.2_ENST00000443311.1_RNA	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	952					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						TCAGCGGCAGCGGCAGGTTGC	0.647										Multiple Myeloma(13;0.14)			C|||	5	0.000998403	0.0	0.0	5008	,	,		12676	0.002		0.0	False		,,,				2504	0.0031						0											0								C		0,4406		0,0,2203	54.0	56.0	56.0		2856	-9.4	0.4	10		56	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GRID1	NM_017551.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		952/1010	87362204	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2856G>A	10.37:g.87362204C>T			B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.P952	ENST00000327946.7	37	c.2856	CCDS31236.1	10																																																																																			0	NULL		0.647	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	protein_coding	OTTHUMT00000049148.3	31	24	0	0.00	0	0	C	XM_043613	rs200390116	C->T		87362204	-1	no_errors	ENST00000327946	ensembl	human	known	74_37	silent	37	16	15.91	20.00	7	4	SNP	0.361	T
MPP5	64398	genome.wustl.edu	37	14	67768124	67768124	+	Missense_Mutation	SNP	C	C	G			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr14:67768124C>G	ENST00000261681.4	+	5	1256	c.595C>G	c.(595-597)Cca>Gca	p.P199A	MPP5_ENST00000555925.1_Missense_Mutation_p.P165A	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	199	Interaction with LIN7C. {ECO:0000250}.|L27 2. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TGTTTTGAAGCCAGTTCATCA	0.343																																							0											0													71.0	69.0	69.0					14																	67768124		2203	4296	6499	SO:0001583	missense	0			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.595C>G	14.37:g.67768124C>G	ENSP00000261681:p.Pro199Ala		A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_GK/Ca_channel_bsu,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.P199A	ENST00000261681.4	37	c.595	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	C	5.434	0.265249	0.10294	.	.	ENSG00000072415	ENST00000261681;ENST00000555925	T;T	0.08370	3.1;3.11	5.77	4.89	0.63831	L27 (2);	0.522536	0.22451	N	0.059899	T	0.04998	0.0134	N	0.16266	0.395	0.35024	D	0.758099	B	0.02656	0.0	B	0.04013	0.001	T	0.22243	-1.0222	10	0.08179	T	0.78	.	10.8599	0.46821	0.0:0.8567:0.0:0.1433	.	199	Q8N3R9	MPP5_HUMAN	A	199;165	ENSP00000261681:P199A;ENSP00000451488:P165A	ENSP00000261681:P199A	P	+	1	0	MPP5	66837877	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	1.298000	0.33412	1.454000	0.47793	0.650000	0.86243	CCA	0	smart_L27,pfscan_L27		0.343	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	protein_coding	OTTHUMT00000412498.1	106	204	0	0.00	0	0	C	NM_022474	0	0		67768124	1	no_errors	ENST00000261681	ensembl	human	known	74_37	missense	72	178	9.88	17.97	8	39	SNP	1	G
RLTPR	146206	genome.wustl.edu	37	16	67691319	67691319	+	Silent	SNP	T	T	A			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr16:67691319T>A	ENST00000334583.6	+	38	4534	c.4206T>A	c.(4204-4206)ctT>ctA	p.L1402L	RLTPR_ENST00000545661.1_Silent_p.L1339L	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1402	Pro-rich.				cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GATCTGGCCTTGGAACCGAGC	0.682																																							0											0													15.0	21.0	19.0					16																	67691319		2049	4205	6254	SO:0001819	synonymous_variant	0			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.4206T>A	16.37:g.67691319T>A			B8X2Z3	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L1402	ENST00000334583.6	37	c.4206	CCDS45513.1	16																																																																																			0	NULL		0.682	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	protein_coding	OTTHUMT00000467858.1	67	73	0	0.00	0	0	T	NM_001013838	0	0		67691319	1	no_errors	ENST00000334583	ensembl	human	known	74_37	silent	78	27	16.13	26.32	15	10	SNP	0.009	A
PAFAH1B1	5048	genome.wustl.edu	37	17	2541571	2541571	+	5'UTR	SNP	A	A	C			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr17:2541571A>C	ENST00000397195.5	+	0	440				PAFAH1B1_ENST00000572915.2_3'UTR	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TAAGCTTGACATTACAGCCAA	0.378																																							0											0													86.0	80.0	82.0					17																	2541571		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.-12A>C	17.37:g.2541571A>C				RNA	SNP	0	NULL	ENST00000397195.5	37	NULL	CCDS32528.1	17																																																																																			0	0		0.378	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B1	protein_coding	OTTHUMT00000437797.2	36	178	2.7	0.00	1	0	A	NM_000430	0	0		2541571	1	no_errors	ENST00000572915	ensembl	human	known	74_37	rna	39	120	26.42	23.42	14	37	SNP	0.999	C
SEPT9	10801	genome.wustl.edu	37	17	75398454	75398454	+	Silent	SNP	C	C	T			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr17:75398454C>T	ENST00000427177.1	+	3	516	c.390C>T	c.(388-390)ttC>ttT	p.F130F	SEPT9_ENST00000588690.1_5'UTR|SEPT9_ENST00000329047.8_Silent_p.F112F|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000427674.2_5'UTR|SEPT9_ENST00000591198.1_Silent_p.F111F|SEPT9_ENST00000449803.2_5'UTR|SEPT9_ENST00000423034.2_Silent_p.F123F|SEPT9_ENST00000431235.2_5'UTR|SEPT9_ENST00000590294.1_Silent_p.F112F|SEPT9_ENST00000585930.1_5'Flank	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9	130					cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CGTCCCGGTTCGGGCTCAAGA	0.682																																							0											0													12.0	16.0	15.0					17																	75398454		2067	4203	6270	SO:0001819	synonymous_variant	0			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.390C>T	17.37:g.75398454C>T			A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Silent	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,superfamily_P-loop_NTPase	p.F130	ENST00000427177.1	37	c.390	CCDS45790.1	17																																																																																			0	NULL		0.682	SEPT9-001	KNOWN	basic|CCDS	protein_coding	SEPT9	protein_coding	OTTHUMT00000436304.2	65	49	0	0.00	0	0	C	NM_006640	0	0		75398454	1	no_errors	ENST00000427177	ensembl	human	known	74_37	silent	46	38	30.3	17.39	20	8	SNP	0.959	T
GPLD1	2822	genome.wustl.edu	37	6	24466943	24466944	+	Frame_Shift_Ins	INS	-	-	T	rs376914429		TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	-	-	-	T	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr6:24466943_24466944insT	ENST00000230036.1	-	10	895_896	c.785_786insA	c.(784-786)tacfs	p.Y262fs	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	262					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to calcium ion (GO:0071277)|cellular response to cholesterol (GO:0071397)|cellular response to drug (GO:0035690)|cellular response to insulin stimulus (GO:0032869)|cellular response to pH (GO:0071467)|cellular response to triglyceride (GO:0071401)|chondrocyte differentiation (GO:0002062)|complement receptor mediated signaling pathway (GO:0002430)|GPI anchor release (GO:0006507)|hematopoietic stem cell migration (GO:0035701)|hematopoietic stem cell migration to bone marrow (GO:0097241)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cell proliferation (GO:0008285)|negative regulation of triglyceride catabolic process (GO:0010897)|ossification (GO:0001503)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of high-density lipoprotein particle clearance (GO:0010983)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of secretion (GO:0051047)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cellular response to insulin stimulus (GO:1900076)|response to glucose (GO:0009749)|transepithelial transport (GO:0070633)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|proteinaceous extracellular matrix (GO:0005578)	glycosylphosphatidylinositol phospholipase D activity (GO:0004621)|phospholipase D activity (GO:0004630)|sodium channel regulator activity (GO:0017080)	p.M254fs*2(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TTGTTAGATGGTAAATATTAGT	0.401																																							0											1	Deletion - Frameshift(1)	breast(1)																																								SO:0001589	frameshift_variant	0			L11701	CCDS4553.1	6p22.1	2008-02-05			ENSG00000112293	ENSG00000112293			4459	protein-coding gene	gene with protein product		602515				11072085	Standard	NM_001503		Approved		uc003ned.2	P80108	OTTHUMG00000016104	ENST00000230036.1:c.786dupA	6.37:g.24466944_24466944dupT	ENSP00000230036:p.Tyr262fs		Q15127|Q15128|Q2M2F2|Q5T3Y0|Q7Z6T8|Q8TCV0|Q8WW82|Q96ID6|Q9H167|Q9H4M1|Q9UJC9	Frame_Shift_Ins	INS	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D	p.Y262fs	ENST00000230036.1	37	c.786_785	CCDS4553.1	6																																																																																			0	NULL		0.401	GPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPLD1	protein_coding	OTTHUMT00000043315.1	72	335	0	0.00	0	0	0	NM_001503	0	0		24466944	-1	no_errors	ENST00000230036	ensembl	human	known	74_37	frame_shift_ins	56	212	21.13	14.17	15	35	INS	0.966:0.968	T
MT-CO1	4512	genome.wustl.edu	37	M	2916	2916	+	5'Flank	SNP	G	G	A			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chrM:2916G>A	ENST00000361624.2	+	0	0				MT-TA_ENST00000387392.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-ND2_ENST00000361453.3_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						AACTTGACCAACGGAACAAGT	0.478																																							0											0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.2916G>A	Exception_encountered		Q34770	RNA	SNP	0	NULL	ENST00000361624.2	37	NULL		MT																																																																																			0	0		0.478	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		128	2	0	0.00	0	0	G	YP_003024028	0	0		2916	1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	170	1	11.92	0.00	23	0	SNP	NULL	A
MT-CO1	4512	genome.wustl.edu	37	M	2978	2978	+	5'Flank	SNP	T	T	C			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chrM:2978T>C	ENST00000361624.2	+	0	0				MT-TA_ENST00000387392.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TF_ENST00000387314.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-ND2_ENST00000361453.3_5'Flank|MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I						aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						TCAACAATAGGGTTTACGACC	0.433																																							0											0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395			M.37:g.2978T>C	Exception_encountered		Q34770	RNA	SNP	0	NULL	ENST00000361624.2	37	NULL		MT																																																																																			0	0		0.433	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-RNR2	protein_coding		72	2	0	0.00	0	0	T	YP_003024028	0	0		2978	1	no_errors	ENST00000387347	ensembl	human	known	74_37	rna	53	2	41.3	0.00	38	0	SNP	NULL	C
FAM47C	442444	genome.wustl.edu	37	X	37026799	37026799	+	Missense_Mutation	SNP	A	A	G	rs143938481	byFrequency	TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chrX:37026799A>G	ENST00000358047.3	+	1	368	c.316A>G	c.(316-318)Aag>Gag	p.K106E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	106										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTGTTTTCCAAGCTCTCGCC	0.542													N|||	5	0.0013245	0.0	0.0029	3775	,	,		12008	0.0		0.003	False		,,,				2504	0.0						0											0								G	GLU/LYS	1,3832		0,0,1,1631,570	89.0	84.0	86.0		316	-1.0	0.0	X	dbSNP_134	86	6,6722		0,3,3,2425,1869	no	missense	FAM47C	NM_001013736.2	56	0,3,4,4056,2439	GG,GA,G,AA,A		0.0892,0.0261,0.0663	benign	106/1036	37026799	7,10554	2202	4300	6502	SO:0001583	missense	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.316A>G	X.37:g.37026799A>G	ENSP00000367913:p.Lys106Glu		Q6ZU46	Missense_Mutation	SNP	NULL	p.K106E	ENST00000358047.3	37	c.316	CCDS35227.1	X	3	0.0018083182640144665	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013227513227513227	a	2.016	-0.425895	0.04701	2.61E-4	8.92E-4	ENSG00000198173	ENST00000358047	T	0.13657	2.57	0.502	-1.0	0.10196	.	.	.	.	.	T	0.13286	0.0322	L	0.53780	1.695	0.09310	N	1	B	0.24483	0.104	B	0.33846	0.171	T	0.41070	-0.9529	9	0.30854	T	0.27	.	4.4174	0.11463	0.4096:0.0:0.5904:0.0	.	106	Q5HY64	FA47C_HUMAN	E	106	ENSP00000367913:K106E	ENSP00000367913:K106E	K	+	1	0	FAM47C	36936720	0.018000	0.18449	0.003000	0.11579	0.005000	0.04900	0.718000	0.25866	-0.493000	0.06678	-0.879000	0.02964	AAG	0	NULL		0.542	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	protein_coding	OTTHUMT00000060508.1	45	7	0	0.00	0	0	A	NM_001013736	rs143938481	A->G		37026799	1	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	48	9	7.69	0.00	4	0	SNP	0.025	G
SH3PXD2B	285590	genome.wustl.edu	37	5	171881342	171881342	+	Silent	SNP	G	G	T			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr5:171881342G>T	ENST00000311601.5	-	1	185	c.15C>A	c.(13-15)cgC>cgA	p.R5R	SH3PXD2B_ENST00000519643.1_Silent_p.R5R	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	5	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCACGATGCTGCGCCGCGGCG	0.771																																							0											0													14.0	12.0	13.0					5																	171881342		2180	4270	6450	SO:0001819	synonymous_variant	0			AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.15C>A	5.37:g.171881342G>T			B6F0V2|Q9P2Q1	Silent	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain	p.R5	ENST00000311601.5	37	c.15	CCDS34291.1	5																																																																																			0	superfamily_Phox,smart_Phox,pfscan_Phox		0.771	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3PXD2B	protein_coding	OTTHUMT00000372449.1	48	21	0	0.00	0	0	G	NM_017963	0	0		171881342	-1	no_errors	ENST00000311601	ensembl	human	known	74_37	silent	41	6	8.89	0.00	4	0	SNP	0.993	T
FLJ12825	440101	genome.wustl.edu	37	12	54515302	54515302	+	lincRNA	SNP	T	T	C	rs139731963		TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr12:54515302T>C	ENST00000515617.1	+	0	3226				RP11-834C11.5_ENST00000508763.1_RNA	NR_026655.1																						aggacatgcttgcctcacatt	0.512																																							0											0																																												0																															12.37:g.54515302T>C				RNA	SNP	0	NULL	ENST00000515617.1	37	NULL		12																																																																																			0	0		0.512	RP11-834C11.3-001	KNOWN	basic	lincRNA	FLJ12825	lincRNA	OTTHUMT00000358961.1	18	0	0	0.00	0	0	T		rs139731963	T->C		54515302	1	no_errors	ENST00000515617	ensembl	human	known	74_37	rna	7	0	50	0.00	7	0	SNP	0	C
DNM1P47	100216544	genome.wustl.edu	37	15	102294999	102294999	+	RNA	SNP	G	G	A	rs371619826		TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr15:102294999G>A	ENST00000561463.1	+	0	3045									DNM1 pseudogene 47																		TGTCCAACCTGTACTCGCGTC	0.587																																							0											0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294999G>A				RNA	SNP	0	NULL	ENST00000561463.1	37	NULL		15																																																																																			0	0		0.587	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	pseudogene	OTTHUMT00000417589.1	10	2	0	0.00	0	0	G	NG_009149	rs371619826	G->A		102294999	1	no_errors	ENST00000561463	ensembl	human	known	74_37	rna	10	2	23.08	0.00	3	0	SNP	1	A
CLEC18B	497190	genome.wustl.edu	37	16	74452071	74452071	+	Silent	SNP	G	G	A	rs62056016		TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr16:74452071G>A	ENST00000339953.5	-	3	463	c.342C>T	c.(340-342)ccC>ccT	p.P114P		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	114	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCAAGCCCGCGGGCAGCAGCT	0.662																																							0											0													38.0	45.0	43.0					16																	74452071		2101	4209	6310	SO:0001819	synonymous_variant	0			AY358373	CCDS32484.1	16q22.3	2010-04-27	2009-03-10	2009-03-10		ENSG00000140839		"""C-type lectin domain containing"""	33849	protein-coding gene	gene with protein product							Standard	NM_001011880		Approved		uc002fct.3	Q6UXF7		ENST00000339953.5:c.342C>T	16.37:g.74452071G>A			B4DF90	Silent	SNP	pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.P114	ENST00000339953.5	37	c.342	CCDS32484.1	16																																																																																			0	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1		0.662	CLEC18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC18B	protein_coding	OTTHUMT00000434697.1	29	3	0	0.00	0	0	G	NM_001011880	rs62056016	G->A		74452071	-1	no_errors	ENST00000339953	ensembl	human	known	74_37	silent	22	1	18.52	0.00	5	0	SNP	0	A
KRTAP10-4	386672	genome.wustl.edu	37	21	45994463	45994463	+	Silent	SNP	C	C	T			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chr21:45994463C>T	ENST00000400374.3	+	1	858	c.828C>T	c.(826-828)tgC>tgT	p.C276C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_5'Flank	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	276	36 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CTGTCTGCTGCAAGCCTGTGT	0.622																																							0											0													100.0	106.0	104.0					21																	45994463		2203	4300	6503	SO:0001819	synonymous_variant	0			AB076351	CCDS42957.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000215454	ENSG00000215454		"""Keratin associated proteins"""	20521	protein-coding gene	gene with protein product			"""keratin associated protein 18-4"""	KRTAP18-4			Standard	NM_198687		Approved	KRTAP18.4, KAP10.4	uc002zfk.1	P60372	OTTHUMG00000057641	ENST00000400374.3:c.828C>T	21.37:g.45994463C>T			Q08AS0	Silent	SNP	NULL	p.C276	ENST00000400374.3	37	c.828	CCDS42957.1	21																																																																																			0	NULL		0.622	KRTAP10-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-4	protein_coding	OTTHUMT00000128045.1	52	14	0	0.00	0	0	C	NM_198687	0	0		45994463	1	no_errors	ENST00000400374	ensembl	human	known	74_37	silent	44	8	8.33	0.00	4	0	SNP	0.339	T
GAGE13	645051	genome.wustl.edu	37	X	49189242	49189242	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ZB-A96K-01A-11D-A428-09	TCGA-ZB-A96K-10A-01D-A42B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	17d87e86-0fec-4232-9b11-98cf11057310	ede73017-ccf1-40bb-931f-9e936ebe8891	g.chrX:49189242delT	ENST00000381751.1	+	2	109	c.27delT	c.(25-27)tatfs	p.Y10fs		NM_001098412.1	NP_001091882.1	Q4V321	GAG13_HUMAN	G antigen 13	10												Ovarian(276;0.236)					GATCGACCTATTATCGGCCTA	0.458																																							0											0																																										SO:0001589	frameshift_variant	0					Xp11.23	2008-05-13	2007-07-23	2007-07-23	ENSG00000237597	ENSG00000274274			29081	protein-coding gene	gene with protein product		300734	"""G antigen 12A"""	GAGE12A			Standard	NM_001098412		Approved	OTTHUMG00000024138		Q4V321	OTTHUMG00000024138	ENST00000381751.1:c.27delT	X.37:g.49189242delT	ENSP00000371170:p.Tyr10fs			Frame_Shift_Del	DEL	pfam_GAGE	p.Y10fs	ENST00000381751.1	37	c.27	CCDS48110.1	X																																																																																			0	pfam_GAGE		0.458	GAGE13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAGE13	protein_coding	OTTHUMT00000060818.2	10	0	0	0.00	0	0	T		0	0		49189242	1	no_errors	ENST00000381751	ensembl	human	known	74_37	frame_shift_del	9	0	30.77	0.00	4	0	DEL	0.001	0
