#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AKAP8L	26993	genome.wustl.edu	37	19	15491335	15491335	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr19:15491335T>C	ENST00000397410.5	-	13	1755	c.1625A>G	c.(1624-1626)tAc>tGc	p.Y542C	AKAP8_ENST00000269701.2_5'Flank|AC005785.2_ENST00000597164.2_RNA|AKAP8L_ENST00000595465.2_Missense_Mutation_p.Y481C	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like	542						cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CACCTTCAGGTAGCGCTCCAG	0.632																																						dbGAP											0													54.0	61.0	59.0					19																	15491335		2031	4187	6218	-	-	-	SO:0001583	missense	0			BC000713	CCDS46005.1	19p13.12	2013-10-16			ENSG00000011243	ENSG00000011243			29857	protein-coding gene	gene with protein product	"""neighbor of A kinase anchoring protein 95"""	609475				10748171, 10761695	Standard	XM_005259854		Approved	NAKAP95, HAP95	uc002naw.1	Q9ULX6	OTTHUMG00000182446	ENST00000397410.5:c.1625A>G	19.37:g.15491335T>C	ENSP00000380557:p.Tyr542Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DJ74|B5BU90|O94792|Q96J58|Q9NRQ0|Q9UGM0	Missense_Mutation	SNP	pfam_AKAP95	p.Y542C	ENST00000397410.5	37	c.1625	CCDS46005.1	19	.	.	.	.	.	.	.	.	.	.	T	19.47	3.833886	0.71258	.	.	ENSG00000011243	ENST00000397410	T	0.61742	0.08	4.94	2.79	0.32731	.	0.146817	0.47093	D	0.000243	T	0.51176	0.1659	M	0.62723	1.935	0.41608	D	0.988897	B;B	0.25351	0.124;0.124	B;B	0.28553	0.091;0.064	T	0.48364	-0.9042	10	0.87932	D	0	-10.6232	5.7344	0.18059	0.0:0.0901:0.1702:0.7397	.	481;542	B4DJ74;Q9ULX6	.;AKP8L_HUMAN	C	542	ENSP00000380557:Y542C	ENSP00000380557:Y542C	Y	-	2	0	AKAP8L	15352335	1.000000	0.71417	0.991000	0.47740	0.957000	0.61999	6.191000	0.72063	0.219000	0.20840	0.459000	0.35465	TAC	AKAP8L	-	pfam_AKAP95	ENSG00000011243		0.632	AKAP8L-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP8L	HGNC	protein_coding	OTTHUMT00000461301.2	42	0.00	0	T	NM_014371		15491335	15491335	-1	no_errors	ENST00000397410	ensembl	human	known	69_37n	missense	10	33.33	5	SNP	1.000	C
ANKRD19P	138649	genome.wustl.edu	37	9	95599230	95599230	+	RNA	SNP	G	G	A	rs571720457	byFrequency	TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr9:95599230G>A	ENST00000473204.1	+	0	1311							Q9H560	ANR19_HUMAN	ankyrin repeat domain 19, pseudogene							extracellular vesicular exosome (GO:0070062)											TGTAGCTTCCGGATACCGTAG	0.577													g|||	2	0.000399361	0.0	0.0	5008	,	,		17337	0.0		0.0	False		,,,				2504	0.002					dbGAP											0																																										-	-	-			0			BC038951		9q22.32	2011-04-27	2011-04-27	2011-04-27	ENSG00000187984	ENSG00000187984			22567	pseudogene	pseudogene			"""ankyrin repeat domain 19"", ""ankyrin repeat domain 19 pseudogene"""	ANKRD19			Standard	NR_026868		Approved	FLJ36178	uc011lua.1	Q9H560	OTTHUMG00000020237		9.37:g.95599230G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K853|Q17RD3	RNA	SNP	-	NULL	ENST00000473204.1	37	NULL		9																																																																																			ANKRD19P	-	-	ENSG00000187984		0.577	ANKRD19P-004	KNOWN	basic	processed_transcript	ANKRD19P	HGNC	pseudogene	OTTHUMT00000053116.3	40	0.00	0	G	NR_026868		95599230	95599230	+1	no_errors	ENST00000464387	ensembl	human	known	69_37n	rna	28	17.65	6	SNP	1.000	A
CYP24A1	1591	genome.wustl.edu	37	20	52774114	52774114	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr20:52774114A>G	ENST00000216862.3	-	10	1640	c.1247T>C	c.(1246-1248)aTg>aCg	p.M416T	CYP24A1_ENST00000395954.3_Missense_Mutation_p.M274T|CYP24A1_ENST00000460643.1_5'Flank|CYP24A1_ENST00000395955.3_Intron	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	416					osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|response to vitamin D (GO:0033280)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D catabolic process (GO:0042369)|vitamin D metabolic process (GO:0042359)|vitamin D receptor signaling pathway (GO:0070561)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity (GO:0030342)|25-hydroxycholecalciferol-24-hydroxylase activity (GO:0008403)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity (GO:0016491)			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Corticotropin(DB01285)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	GGTATTTAGCATGAGCACTGT	0.378																																						dbGAP											0													71.0	70.0	70.0					20																	52774114		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60669	CCDS33491.1, CCDS46616.1	20q13.2-q13.3	2003-02-28	2003-02-14	2003-02-28	ENSG00000019186	ENSG00000019186		"""Cytochrome P450s"""	2602	protein-coding gene	gene with protein product		126065	"""cytochrome P450, subfamily XXIV (vitamin D 24-hydroxylase)"""	CYP24			Standard	NM_000782		Approved	CP24, P450-CC24	uc002xwv.2	Q07973	OTTHUMG00000032773	ENST00000216862.3:c.1247T>C	20.37:g.52774114A>G	ENSP00000216862:p.Met416Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15807|Q32ML3|Q5I2W7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.M416T	ENST00000216862.3	37	c.1247	CCDS33491.1	20	.	.	.	.	.	.	.	.	.	.	a	5.054	0.195705	0.09599	.	.	ENSG00000019186	ENST00000216862;ENST00000395954	T;T	0.68025	-0.3;-0.3	5.34	1.89	0.25635	.	0.222648	0.53938	N	0.000043	T	0.46171	0.1379	L	0.28504	0.86	0.34932	D	0.749475	B;B	0.11235	0.004;0.001	B;B	0.13407	0.009;0.005	T	0.39921	-0.9590	10	0.08381	T	0.77	-0.6564	7.7542	0.28915	0.6707:0.0:0.3293:0.0	.	416;274	Q07973;Q5I2W7	CP24A_HUMAN;.	T	416;274	ENSP00000216862:M416T;ENSP00000379284:M274T	ENSP00000216862:M416T	M	-	2	0	CYP24A1	52207521	1.000000	0.71417	0.300000	0.25030	0.802000	0.45316	2.904000	0.48719	0.120000	0.18254	0.451000	0.29950	ATG	CYP24A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV	ENSG00000019186		0.378	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP24A1	HGNC	protein_coding	OTTHUMT00000079769.2	40	0.00	0	A			52774114	52774114	-1	no_errors	ENST00000216862	ensembl	human	known	69_37n	missense	44	22.81	13	SNP	0.998	G
DNAH2	146754	genome.wustl.edu	37	17	7664193	7664193	+	Missense_Mutation	SNP	T	T	C			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr17:7664193T>C	ENST00000572933.1	+	18	4381	c.2921T>C	c.(2920-2922)aTt>aCt	p.I974T	DNAH2_ENST00000389173.2_Missense_Mutation_p.I974T			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	974	Stem. {ECO:0000250}.				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(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GACTCCTTCATTCATCGCTAC	0.537																																						dbGAP											0													192.0	159.0	170.0					17																	7664193		2203	4300	6503	-	-	-	SO:0001583	missense	0			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.2921T>C	17.37:g.7664193T>C	ENSP00000458355:p.Ile974Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.I974T	ENST00000572933.1	37	c.2921	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	T	17.28	3.349196	0.61183	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.50813	0.73	5.55	5.55	0.83447	.	0.058746	0.64402	D	0.000009	T	0.51312	0.1667	M	0.83953	2.67	0.80722	D	1	P	0.42518	0.782	B	0.37267	0.245	T	0.58934	-0.7548	10	0.42905	T	0.14	.	14.6681	0.68924	0.0:0.0:0.0:1.0	.	974	Q9P225	DYH2_HUMAN	T	974	ENSP00000373825:I974T	ENSP00000353818:I974T	I	+	2	0	DNAH2	7604918	1.000000	0.71417	0.995000	0.50966	0.994000	0.84299	7.064000	0.76721	2.108000	0.64289	0.459000	0.35465	ATT	DNAH2	-	NULL	ENSG00000183914		0.537	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	286	0.35	1	T	NM_020877		7664193	7664193	+1	no_errors	ENST00000389173	ensembl	human	known	69_37n	missense	162	40.00	108	SNP	0.998	C
DRAXIN	374946	genome.wustl.edu	37	1	11766688	11766688	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr1:11766688C>T	ENST00000294485.5	+	2	508	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_198545.3	NP_940947.3			dorsal inhibitory axon guidance protein																		GAAGGAGAACCGACCTCCAGG	0.642																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			AY358750	CCDS135.1	1p36.22	2012-08-20	2012-08-14	2012-08-14	ENSG00000162490	ENSG00000162490			25054	protein-coding gene	gene with protein product	"""dorsal repulsive axon guidance protein"", ""neural tissue-specific cysteine-rich protein"""	612682	"""chromosome 1 open reading frame 187"""	C1orf187		19150847	Standard	NM_198545		Approved	FLJ34999, Draxin, Neucrin	uc001asr.1	Q8NBI3	OTTHUMG00000002227	ENST00000294485.5:c.373C>T	1.37:g.11766688C>T	ENSP00000294485:p.Arg125*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	NULL	p.R125*	ENST00000294485.5	37	c.373	CCDS135.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.483375	0.96307	.	.	ENSG00000162490	ENST00000294485	.	.	.	4.75	2.81	0.32909	.	0.591637	0.15476	N	0.260378	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.914	11.2561	0.49054	0.3304:0.6696:0.0:0.0	.	.	.	.	X	125	.	ENSP00000294485:R125X	R	+	1	2	C1orf187	11689275	0.018000	0.18449	0.005000	0.12908	0.888000	0.51559	0.887000	0.28254	0.381000	0.24851	0.313000	0.20887	CGA	DRAXIN	-	NULL	ENSG00000162490		0.642	DRAXIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRAXIN	HGNC	protein_coding	OTTHUMT00000006325.1	83	0.00	0	C	NM_198545		11766688	11766688	+1	no_errors	ENST00000294485	ensembl	human	known	69_37n	nonsense	64	18.99	15	SNP	0.007	T
FAM155A	728215	genome.wustl.edu	37	13	108518337	108518338	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr13:108518337_108518338insC	ENST00000375915.2	-	1	745_746	c.607_608insG	c.(607-609)gacfs	p.D203fs		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	203						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CTCCTGCCCGTCCCCCCCGGCC	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.608dupG	13.37:g.108518344_108518344dupC	ENSP00000365080:p.Asp203fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUV1|B7Z334	Frame_Shift_Ins	INS	NULL	p.D203fs	ENST00000375915.2	37	c.608_607	CCDS32006.1	13																																																																																			FAM155A	-	NULL	ENSG00000204442		0.609	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155A	HGNC	protein_coding	OTTHUMT00000045736.2	23	0.00	0	-	NM_001080396		108518337	108518338	-1	no_errors	ENST00000375915	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	0.051:0.252	C
GNAS	2778	genome.wustl.edu	37	20	57470704	57470705	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr20:57470704_57470705insA	ENST00000371085.3	+	2	601_602	c.177_178insA	c.(178-180)atgfs	p.M60fs	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_3'UTR|GNAS_ENST00000354359.7_Frame_Shift_Ins_p.M60fs|GNAS_ENST00000371075.3_3'UTR|GNAS_ENST00000371102.4_Frame_Shift_Ins_p.M703fs|GNAS_ENST00000371100.4_Frame_Shift_Ins_p.M703fs|GNAS_ENST00000371095.3_Frame_Shift_Ins_p.M60fs|GNAS_ENST00000313949.7_3'UTR|GNAS_ENST00000306090.10_Frame_Shift_Ins_p.M60fs|GNAS_ENST00000265620.7_Frame_Shift_Ins_p.M60fs|GNAS_ENST00000371081.1_Frame_Shift_Ins_p.M60fs	NM_000516.4	NP_000507.1	P63092	GNAS2_HUMAN	GNAS complex locus	60					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			TTGTGAAGCAGATGAGGATCCT	0.431			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	dbGAP		Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371085.3:c.178dupA	20.37:g.57470705_57470705dupA	ENSP00000360126:p.Met60fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Frame_Shift_Ins	INS	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su	p.M59fs	ENST00000371085.3	37	c.177_178	CCDS13472.1	20																																																																																			GNAS	-	pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su	ENSG00000087460		0.431	GNAS-015	KNOWN	basic|CCDS	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000080431.2	195	0.00	0	-	NM_000516		57470704	57470705	+1	no_errors	ENST00000354359	ensembl	human	known	69_37n	frame_shift_ins	166	20.19	42	INS	0.994:1.000	A
GOLGA3	2802	genome.wustl.edu	37	12	133384597	133384599	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	TCC	TCC					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr12:133384597_133384599delTCC	ENST00000450791.2	-	4	1239_1241	c.1056_1058delGGA	c.(1054-1059)gcggat>gct	p.D353del	GOLGA3_ENST00000537452.1_In_Frame_Del_p.D353del|GOLGA3_ENST00000456883.2_In_Frame_Del_p.D353del|GOLGA3_ENST00000545875.1_In_Frame_Del_p.D353del|GOLGA3_ENST00000204726.3_In_Frame_Del_p.D353del			Q08378	GOGA3_HUMAN	golgin A3	353					intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCCAGGGTATCCGCAGGAATCT	0.64																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.1056_1058delGGA	12.37:g.133384597_133384599delTCC	ENSP00000410378:p.Asp353del	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	In_Frame_Del	DEL	superfamily_Prefoldin	p.D353in_frame_del	ENST00000450791.2	37	c.1058_1056	CCDS9281.1	12																																																																																			GOLGA3	-	NULL	ENSG00000090615		0.640	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	47	0.00	0	TCC	NM_005895		133384597	133384599	-1	no_errors	ENST00000204726	ensembl	human	known	69_37n	in_frame_del	20	23.33	7	DEL	0.136:0.129:0.000	-
MROH2B	133558	genome.wustl.edu	37	5	41057211	41057211	+	Splice_Site	SNP	C	C	T			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr5:41057211C>T	ENST00000399564.4	-	9	1369	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	MROH2B_ENST00000506092.2_Intron	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	307																	CTGGTCCTACCTAGAATGAGA	0.423																																						dbGAP											0													72.0	66.0	68.0					5																	41057211		1850	4116	5966	-	-	-	SO:0001630	splice_region_variant	0				CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.919+1G>A	5.37:g.41057211C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.A307T	ENST00000399564.4	37	c.919	CCDS47202.1	5	.	.	.	.	.	.	.	.	.	.	C	19.21	3.782967	0.70222	.	.	ENSG00000171495	ENST00000296803;ENST00000399564	T	0.70631	-0.5	5.09	5.09	0.68999	Armadillo-type fold (1);	0.124305	0.36703	N	0.002446	T	0.70692	0.3253	M	0.68317	2.08	0.46564	D	0.999101	P	0.46784	0.884	B	0.43658	0.426	T	0.71846	-0.4469	9	.	.	.	.	14.1723	0.65517	0.0:1.0:0.0:0.0	.	307	Q7Z745	HTRB2_HUMAN	T	11;307	ENSP00000382476:A307T	.	A	-	1	0	HEATR7B2	41092968	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	3.256000	0.51492	2.809000	0.96659	0.555000	0.69702	GCC	HEATR7B2	-	superfamily_ARM-type_fold	ENSG00000171495		0.423	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR7B2	HGNC	protein_coding	OTTHUMT00000367558.2	187	0.00	0	C	NM_173489	Missense_Mutation	41057211	41057211	-1	no_errors	ENST00000399564	ensembl	human	known	69_37n	missense	139	21.47	38	SNP	1.000	T
HLA-DRB6	3128	genome.wustl.edu	37	6	32522570	32522570	+	RNA	SNP	G	G	A	rs35923382		TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr6:32522570G>A	ENST00000411500.1	-	0	636					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		GGGTCTGGAAGGTCCAATCTC	0.532																																						dbGAP											0																																										-	-	-			0			L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522570G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000411500.1	37	NULL		6																																																																																			HLA-DRB6	-	-	ENSG00000229391		0.532	HLA-DRB6-002	KNOWN	basic	processed_transcript	HLA-DRB6	HGNC	pseudogene	OTTHUMT00000272900.1	15	0.00	0	G	NR_001298		32522570	32522570	-1	no_errors	ENST00000411500	ensembl	human	known	69_37n	rna	8	33.33	4	SNP	1.000	A
MED14	9282	genome.wustl.edu	37	X	40511087	40511087	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chrX:40511087G>A	ENST00000324817.1	-	31	4454	c.4336C>T	c.(4336-4338)Ctt>Ttt	p.L1446F		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1446					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCAGTGTAAGATTAGCCATT	0.403																																						dbGAP											0													52.0	43.0	46.0					X																	40511087		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.4336C>T	X.37:g.40511087G>A	ENSP00000323720:p.Leu1446Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.L1446F	ENST00000324817.1	37	c.4336	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	G	16.08	3.020875	0.54576	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.67316	0.2880	L	0.31578	0.945	0.80722	D	1	D	0.65815	0.995	D	0.72982	0.979	T	0.67047	-0.5769	9	0.44086	T	0.13	.	18.9181	0.92515	0.0:0.0:1.0:0.0	.	1446	O60244	MED14_HUMAN	F	1446	.	ENSP00000323720:L1446F	L	-	1	0	MED14	40396031	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.225000	0.95219	2.416000	0.81992	0.600000	0.82982	CTT	MED14	-	NULL	ENSG00000180182		0.403	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	111	0.00	0	G	NM_004229		40511087	40511087	-1	no_errors	ENST00000324817	ensembl	human	known	69_37n	missense	44	33.33	22	SNP	1.000	A
MEGF8	1954	genome.wustl.edu	37	19	42858174	42858174	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr19:42858174A>G	ENST00000251268.6	+	22	4009	c.4009A>G	c.(4009-4011)Acg>Gcg	p.T1337A	MEGF8_ENST00000334370.4_Missense_Mutation_p.T1270A	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1337	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CACCCCCTGCACGGTGAGCAC	0.627																																						dbGAP											0													30.0	25.0	27.0					19																	42858174		2199	4285	6484	-	-	-	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.4009A>G	19.37:g.42858174A>G	ENSP00000251268:p.Thr1337Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.T1337A	ENST00000251268.6	37	c.4009		19	.	.	.	.	.	.	.	.	.	.	A	14.00	2.403580	0.42613	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.28255	1.62;1.62	4.81	4.81	0.61882	CUB (1);	0.147023	0.44688	D	0.000436	T	0.41143	0.1146	L	0.34521	1.04	0.80722	D	1	P;D	0.61697	0.925;0.99	P;D	0.72982	0.554;0.979	T	0.10337	-1.0634	10	0.21014	T	0.42	-9.1631	13.4858	0.61364	1.0:0.0:0.0:0.0	.	1337;1270	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	A	1270;1337	ENSP00000334219:T1270A;ENSP00000251268:T1337A	ENSP00000251268:T1337A	T	+	1	0	MEGF8	47550014	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.805000	0.62561	2.023000	0.59567	0.533000	0.62120	ACG	MEGF8	-	superfamily_CUB,pfscan_CUB	ENSG00000105429		0.627	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	63	0.00	0	A	NM_001410		42858174	42858174	+1	no_errors	ENST00000251268	ensembl	human	known	69_37n	missense	27	40.00	18	SNP	1.000	G
NBPF9	400818	genome.wustl.edu	37	1	144813815	144813815	+	Silent	SNP	A	A	G	rs371436644		TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr1:144813815A>G	ENST00000440491.2	+	2	288	c.288A>G	c.(286-288)gcA>gcG	p.A96A	NBPF9_ENST00000338347.4_Silent_p.A96A|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	354						cytoplasm (GO:0005737)		p.A96A(5)		NS(2)|prostate(1)	3						AGAAGCTTGCAGAGCAGCTGA	0.532																																						dbGAP											5	Substitution - coding silent(5)	kidney(4)|endometrium(1)											1.0	1.0	1.0					1																	144813815		263	708	971	-	-	-	SO:0001819	synonymous_variant	0				CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.288A>G	1.37:g.144813815A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_NBPF_dom	p.Q95R	ENST00000440491.2	37	c.284		1	.	.	.	.	.	.	.	.	.	.	.	1.684	-0.505860	0.04261	.	.	ENSG00000168614	ENST00000375552	.	.	.	0.723	-0.563	0.11778	.	.	.	.	.	T	0.07908	0.0198	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	T	0.36040	-0.9764	4	.	.	.	.	2.9279	0.05789	0.6738:0.0:0.3262:0.0	.	.	.	.	R	95	.	.	Q	+	2	0	NBPF9	143525172	0.031000	0.19500	0.003000	0.11579	0.003000	0.03518	0.134000	0.15932	-0.209000	0.10156	-1.211000	0.01629	CAG	NBPF9	-	NULL	ENSG00000168614		0.532	NBPF9-203	KNOWN	basic	protein_coding	NBPF9	HGNC	protein_coding		102	0.97	1	A	NM_001037675		144813815	144813815	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000375552	ensembl	human	known	69_37n	missense	124	10.71	15	SNP	0.004	G
NR1I3	9970	genome.wustl.edu	37	1	161200619	161200619	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr1:161200619G>A	ENST00000367982.4	-	8	1068	c.913C>T	c.(913-915)Cga>Tga	p.R305*	NR1I3_ENST00000504010.1_Nonsense_Mutation_p.R233*|NR1I3_ENST00000428574.2_Nonsense_Mutation_p.R306*|NR1I3_ENST00000437437.2_Nonsense_Mutation_p.R272*|NR1I3_ENST00000511748.1_3'UTR|NR1I3_ENST00000442691.2_Nonsense_Mutation_p.R305*|NR1I3_ENST00000505005.1_Nonsense_Mutation_p.R262*|NR1I3_ENST00000412844.2_Nonsense_Mutation_p.R281*|NR1I3_ENST00000367980.2_Nonsense_Mutation_p.R310*|NR1I3_ENST00000367985.3_Nonsense_Mutation_p.R267*|NR1I3_ENST00000515621.1_Nonsense_Mutation_p.R226*|NR1I3_ENST00000367983.4_Nonsense_Mutation_p.R301*|NR1I3_ENST00000508740.1_Nonsense_Mutation_p.R277*|NR1I3_ENST00000506209.1_Nonsense_Mutation_p.R272*|NR1I3_ENST00000367984.4_Nonsense_Mutation_p.R262*|NR1I3_ENST00000511944.1_3'UTR|NR1I3_ENST00000511676.1_Nonsense_Mutation_p.R272*|NR1I3_ENST00000367981.3_Nonsense_Mutation_p.R277*|NR1I3_ENST00000512372.1_Nonsense_Mutation_p.R233*|NR1I3_ENST00000367979.2_Nonsense_Mutation_p.R310*|NR1I3_ENST00000508387.1_3'UTR|NR1I3_ENST00000479324.1_5'UTR|NR1I3_ENST00000502985.1_3'UTR			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	305					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CGGGGCCTTCGCTGCTGGCCC	0.547																																						dbGAP											0													89.0	77.0	81.0					1																	161200619		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.913C>T	1.37:g.161200619G>A	ENSP00000356961:p.Arg305*	Somatic		WXS	Illumina GAIIx	Phase_IV	E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Nonsense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.R310*	ENST00000367982.4	37	c.928	CCDS41430.1	1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.128096	0.56721	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209	.	.	.	5.08	3.06	0.35304	.	0.596637	0.17286	N	0.179813	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8499	0.24008	0.1036:0.1795:0.7169:0.0	.	.	.	.	X	233;301;310;272;305;281;306;262;277;305;233;272;277;226;262;267;310;272	.	ENSP00000356958:R310X	R	-	1	2	NR1I3	159467243	0.198000	0.23374	0.818000	0.32626	0.417000	0.31264	1.273000	0.33121	1.237000	0.43756	0.561000	0.74099	CGA	NR1I3	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core	ENSG00000143257		0.547	NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR1I3	HGNC	protein_coding	OTTHUMT00000083048.2	214	0.00	0	G			161200619	161200619	-1	no_errors	ENST00000367979	ensembl	human	known	69_37n	nonsense	296	14.66	51	SNP	0.419	A
OR8H1	219469	genome.wustl.edu	37	11	56058466	56058466	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr11:56058466T>A	ENST00000313022.2	-	1	100	c.73A>T	c.(73-75)Atg>Ttg	p.M25L		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					AAGAGGGCCATCTGGACCTCT	0.433																																						dbGAP											0													121.0	117.0	119.0					11																	56058466		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065836	CCDS31526.1	11q11	2012-08-09			ENSG00000181693	ENSG00000181693		"""GPCR / Class A : Olfactory receptors"""	14824	protein-coding gene	gene with protein product							Standard	NM_001005199		Approved		uc010rje.2	Q8NGG4	OTTHUMG00000162671	ENST00000313022.2:c.73A>T	11.37:g.56058466T>A	ENSP00000323595:p.Met25Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNI7|Q6IFC5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.M25L	ENST00000313022.2	37	c.73	CCDS31526.1	11	.	.	.	.	.	.	.	.	.	.	T	0.078	-1.189487	0.01607	.	.	ENSG00000181693	ENST00000313022;ENST00000395186	T	0.00402	7.56	3.98	-6.1	0.02138	.	1.208540	0.06179	N	0.679159	T	0.00073	0.0002	N	0.00389	-1.56	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39800	-0.9596	10	0.06365	T	0.9	.	0.5823	0.00714	0.2136:0.1827:0.2383:0.3654	.	25	Q8NGG4	OR8H1_HUMAN	L	25;21	ENSP00000323595:M25L	ENSP00000323595:M25L	M	-	1	0	OR8H1	55815042	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.042000	0.00632	-0.890000	0.03945	-1.988000	0.00451	ATG	OR8H1	-	NULL	ENSG00000181693		0.433	OR8H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H1	HGNC	protein_coding	OTTHUMT00000370019.1	100	0.00	0	T	NM_001005199		56058466	56058466	-1	no_errors	ENST00000313022	ensembl	human	known	69_37n	missense	78	28.44	31	SNP	0.000	A
PCDHA2	56146	genome.wustl.edu	37	5	140176837	140176838	+	Frame_Shift_Ins	INS	-	-	C	rs558931090		TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr5:140176837_140176838insC	ENST00000526136.1	+	1	2288_2289	c.2288_2289insC	c.(2287-2292)gaccccfs	p.DP763fs	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Frame_Shift_Ins_p.DP763fs|PCDHA2_ENST00000520672.2_Frame_Shift_Ins_p.DP763fs|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2	763	5 X 4 AA repeats of P-X-X-P.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGGGAGGACCCCCCCAAGA	0.619																																						dbGAP											0									,,,	8,4254		0,8,2123					,,,	3.1	0.9			49	7,8247		0,7,4120	no	frameshift,intron,frameshift,intron	PCDHA2,PCDHA1	NM_031495.1,NM_031411.1,NM_018905.2,NM_018900.2	,,,	0,15,6243	A1A1,A1R,RR		0.0848,0.1877,0.1198	,,,	,,,		15,12501				-	-	-	SO:0001589	frameshift_variant	0			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2295dupC	5.37:g.140176844_140176844dupC	ENSP00000431748:p.Asp763fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75287|Q9BTV3	Frame_Shift_Ins	INS	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.K766fs	ENST00000526136.1	37	c.2288_2289	CCDS54914.1	5																																																																																			PCDHA2	-	NULL	ENSG00000204969		0.619	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	54	0.00	0	-	NM_018905		140176837	140176838	+1	no_errors	ENST00000526136	ensembl	human	known	69_37n	frame_shift_ins	56	11.11	7	INS	0.292:0.004	C
PDCD11	22984	genome.wustl.edu	37	10	105172930	105172930	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr10:105172930C>T	ENST00000369797.3	+	9	1130	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	346	S1 motif 3. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CCTGAGCCTGCGCCCCATCTT	0.567																																						dbGAP											0													118.0	100.0	106.0					10																	105172930		2203	4300	6503	-	-	-	SO:0001583	missense	0			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.1036C>T	10.37:g.105172930C>T	ENSP00000358812:p.Arg346Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.R346C	ENST00000369797.3	37	c.1036	CCDS31276.1	10	.	.	.	.	.	.	.	.	.	.	C	27.0	4.791797	0.90453	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.20463	2.07	5.47	5.47	0.80525	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (1);	0.048078	0.85682	D	0.000000	T	0.47229	0.1434	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.63192	0.912	T	0.49011	-0.8983	10	0.72032	D	0.01	-13.0341	17.5198	0.87783	0.0:1.0:0.0:0.0	.	346	Q14690	RRP5_HUMAN	C	346	ENSP00000358812:R346C	ENSP00000358812:R346C	R	+	1	0	PDCD11	105162920	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	4.743000	0.62110	2.573000	0.86826	0.467000	0.42956	CGC	PDCD11	-	superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	ENSG00000148843		0.567	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1	97	0.00	0	C			105172930	105172930	+1	no_errors	ENST00000369797	ensembl	human	known	69_37n	missense	74	10.84	9	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	92	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	67	43.70	52	SNP	1.000	G
PPIH	10465	genome.wustl.edu	37	1	43124990	43124990	+	Intron	SNP	A	A	G			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr1:43124990A>G	ENST00000304979.3	+	3	177				PPIH_ENST00000372550.1_5'UTR|PPIH_ENST00000455203.2_5'UTR|PPIH_ENST00000372549.1_Missense_Mutation_p.I49V	NM_006347.3	NP_006338.1	O43447	PPIH_HUMAN	peptidylprolyl isomerase H (cyclophilin H)						mRNA splicing, via spliceosome (GO:0000398)|positive regulation of viral genome replication (GO:0045070)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)|U4/U6 x U5 tri-snRNP complex (GO:0046540)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|ribonucleoprotein complex binding (GO:0043021)			endometrium(1)|large_intestine(1)|lung(2)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)			L-Proline(DB00172)	CAGTGAGGGTATCGGTGAACC	0.507																																					NSCLC(73;23 1942 10718 46854)	dbGAP											0													171.0	136.0	147.0					1																	43124990		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF016371	CCDS469.1	1p34.1	2012-06-07	2006-01-12		ENSG00000171960	ENSG00000171960			14651	protein-coding gene	gene with protein product	"""USA-CyP SnuCyp-20"", ""cyclophilin H"", ""U-snRNP-associated cyclophilin SunCyp-20"", ""small nuclear ribonucleoprotein particle-specific cyclophilin H"", ""rotamase H"", ""peptidyl-prolyl cis-trans isomerase H"", ""PPIase h"""	606095	"""peptidyl prolyl isomerase H (cyclophilin H)"""			9404889, 9570313	Standard	NM_006347		Approved	USA-CYP, CYP-20, SnuCyp-20, CYPH, MGC5016	uc001chq.3	O43447	OTTHUMG00000007520	ENST00000304979.3:c.155+68A>G	1.37:g.43124990A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNE7	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom	p.I49V	ENST00000304979.3	37	c.145	CCDS469.1	1	.	.	.	.	.	.	.	.	.	.	A	10.91	1.483856	0.26598	.	.	ENSG00000171960	ENST00000372549	T	0.48836	0.8	5.26	-2.6	0.06190	.	.	.	.	.	T	0.36220	0.0959	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.41538	-0.9503	6	0.87932	D	0	.	0.7745	0.01029	0.2199:0.3049:0.2603:0.2149	.	.	.	.	V	49	ENSP00000361629:I49V	ENSP00000361629:I49V	I	+	1	0	PPIH	42897577	0.823000	0.29233	0.001000	0.08648	0.216000	0.24613	-0.345000	0.07770	-0.758000	0.04690	0.533000	0.62120	ATC	PPIH	-	NULL	ENSG00000171960		0.507	PPIH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIH	HGNC	protein_coding	OTTHUMT00000019778.1	248	0.00	0	A	NM_006347		43124990	43124990	+1	no_errors	ENST00000372549	ensembl	human	known	69_37n	missense	194	10.55	23	SNP	0.000	G
PRPF18	8559	genome.wustl.edu	37	10	13642249	13642249	+	Silent	SNP	G	G	A			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr10:13642249G>A	ENST00000378572.3	+	3	310	c.150G>A	c.(148-150)caG>caA	p.Q50Q		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	50					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TATAGATACAGCCAAAAGAGG	0.338																																						dbGAP											0													83.0	84.0	84.0					10																	13642249		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.150G>A	10.37:g.13642249G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T9P9|Q9BUI9	Silent	SNP	pfam_Prp18,pfam_PRP4,superfamily_Prp18,smart_SFM	p.Q50	ENST00000378572.3	37	c.150	CCDS7100.1	10																																																																																			PRPF18	-	NULL	ENSG00000165630		0.338	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF18	HGNC	protein_coding	OTTHUMT00000046879.1	148	0.00	0	G			13642249	13642249	+1	no_errors	ENST00000378572	ensembl	human	known	69_37n	silent	123	35.60	68	SNP	1.000	A
RBM3	5935	genome.wustl.edu	37	X	48433737	48433737	+	Intron	SNP	A	A	G			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chrX:48433737A>G	ENST00000376759.3	+	2	166				RBM3_ENST00000466764.1_Intron|RBM3_ENST00000376755.1_Intron|AC115618.1_ENST00000376775.2_5'Flank|RBM3_ENST00000430348.2_Intron|RBM3_ENST00000354480.2_5'Flank	NM_006743.4	NP_006734.1	P98179	RBM3_HUMAN	RNA binding motif (RNP1, RRM) protein 3						positive regulation of translation (GO:0045727)|production of miRNAs involved in gene silencing by miRNA (GO:0035196)|regulation of translation (GO:0006417)|response to cold (GO:0009409)|RNA processing (GO:0006396)|translation (GO:0006412)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|RNA binding (GO:0003723)			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						CATTTCAAGGAGTATTAACTG	0.478											OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC006825	CCDS14301.1	Xp11.2	2014-05-19	2004-04-23		ENSG00000102317	ENSG00000102317		"""RNA binding motif (RRM) containing"""	9900	protein-coding gene	gene with protein product		300027	"""RNA binding motif protein 3"""			8634703	Standard	NM_006743		Approved	IS1-RNPL	uc004dkf.2	P98179	OTTHUMG00000024121	ENST00000376759.3:c.103+66A>G	X.37:g.48433737A>G		Somatic	954	WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000376759.3	37	NULL	CCDS14301.1	X																																																																																			RBM3	-	-	ENSG00000102317		0.478	RBM3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM3	HGNC	protein_coding	OTTHUMT00000060755.1	81	0.00	0	A	NM_006743		48433737	48433737	+1	no_errors	ENST00000491240	ensembl	human	known	69_37n	rna	46	23.33	14	SNP	0.002	G
SEC14L5	9717	genome.wustl.edu	37	16	5061151	5061152	+	Frame_Shift_Ins	INS	-	-	C	rs546621651	byFrequency	TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr16:5061151_5061152insC	ENST00000251170.7	+	15	2036_2037	c.1856_1857insC	c.(1855-1860)agccccfs	p.SP619fs	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	619	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CAAATGCACAGCCCCCCCAGCA	0.663																																						dbGAP											0										17,3811		0,17,1897						-0.2	0.0			25	8,7966		0,8,3979	no	frameshift	SEC14L5	NM_014692.1		0,25,5876	A1A1,A1R,RR		0.1003,0.4441,0.2118				25,11777				-	-	-	SO:0001589	frameshift_variant	0			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1863dupC	16.37:g.5061158_5061158dupC	ENSP00000251170:p.Ser619fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran	p.S622fs	ENST00000251170.7	37	c.1856_1857	CCDS45403.1	16																																																																																			SEC14L5	-	superfamily_GOLD,pfscan_GOLD	ENSG00000103184		0.663	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L5	HGNC	protein_coding	OTTHUMT00000434379.1	42	0.00	0	-			5061151	5061152	+1	no_errors	ENST00000251170	ensembl	human	known	69_37n	frame_shift_ins	27	15.62	5	INS	0.002:0.000	C
SNAPC3	6619	genome.wustl.edu	37	9	15444655	15444655	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr9:15444655G>A	ENST00000380821.3	+	4	709	c.533G>A	c.(532-534)gGg>gAg	p.G178E	SNAPC3_ENST00000380799.1_5'Flank	NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	178					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription (GO:0009301)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		ATTGAAGAAGGGGAGCTTATC	0.333																																						dbGAP											0													122.0	115.0	117.0					9																	15444655		2203	4300	6503	-	-	-	SO:0001583	missense	0			U71300	CCDS6478.1	9p22.3	2008-07-21	2002-08-29		ENSG00000164975	ENSG00000164975			11136	protein-coding gene	gene with protein product		602348	"""small nuclear RNA activating complex, polypeptide 3, 50kD"""			9003788	Standard	XR_428427		Approved	SNAP50, PTFbeta, MGC33124, MGC132011	uc003zlt.3	Q92966	OTTHUMG00000019583	ENST00000380821.3:c.533G>A	9.37:g.15444655G>A	ENSP00000370200:p.Gly178Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRI8|Q2VPI6|Q5T285	Missense_Mutation	SNP	pfam_snRNA-activating_su3	p.G178E	ENST00000380821.3	37	c.533	CCDS6478.1	9	.	.	.	.	.	.	.	.	.	.	G	23.5	4.427035	0.83667	.	.	ENSG00000164975	ENST00000380821;ENST00000380807;ENST00000447670;ENST00000421710	T	0.43688	0.94	5.35	5.35	0.76521	.	0.051772	0.85682	D	0.000000	T	0.61248	0.2332	L	0.55103	1.725	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.988	T	0.61686	-0.7012	10	0.62326	D	0.03	-0.3256	17.2331	0.86990	0.0:0.0:1.0:0.0	.	149;178	B4DDR9;Q92966	.;SNPC3_HUMAN	E	178;178;149;178	ENSP00000370200:G178E	ENSP00000370185:G178E	G	+	2	0	SNAPC3	15434655	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.753000	0.85153	2.666000	0.90696	0.650000	0.86243	GGG	SNAPC3	-	NULL	ENSG00000164975		0.333	SNAPC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC3	HGNC	protein_coding	OTTHUMT00000051763.2	180	0.00	0	G	NM_001039697		15444655	15444655	+1	no_errors	ENST00000380821	ensembl	human	known	69_37n	missense	196	15.15	35	SNP	1.000	A
SPEG	10290	genome.wustl.edu	37	2	220333726	220333726	+	Silent	SNP	C	C	T			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr2:220333726C>T	ENST00000312358.7	+	12	3579	c.3447C>T	c.(3445-3447)gcC>gcT	p.A1149A	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1149	Ig-like 5.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		ACTGCTCAGCCCAGCTGTATG	0.662																																						dbGAP											0													40.0	48.0	45.0					2																	220333726		2011	4170	6181	-	-	-	SO:0001819	synonymous_variant	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.3447C>T	2.37:g.220333726C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.A1149	ENST00000312358.7	37	c.3447	CCDS42824.1	2																																																																																			SPEG	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like	ENSG00000072195		0.662	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	38	0.00	0	C	NM_005876		220333726	220333726	+1	no_errors	ENST00000312358	ensembl	human	novel	69_37n	silent	18	41.94	13	SNP	0.837	T
SSC5D	284297	genome.wustl.edu	37	19	56002275	56002276	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr19:56002275_56002276insGG	ENST00000389623.6	+	6	746_747	c.723_724insGG	c.(724-726)gggfs	p.G242fs	SSC5D_ENST00000587166.1_Frame_Shift_Ins_p.G242fs	NM_001144950.1	NP_001138422.1	A1L4H1	SRCRL_HUMAN	scavenger receptor cysteine rich family, 5 domains	242	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterial lipoprotein (GO:0042494)|innate immune response (GO:0045087)|multicellular organismal development (GO:0007275)|negative regulation of interleukin-8 secretion (GO:2000483)|receptor-mediated endocytosis (GO:0006898)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|intracellular (GO:0005622)|membrane (GO:0016020)	extracellular matrix binding (GO:0050840)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|scavenger receptor activity (GO:0005044)			NS(1)|breast(1)|skin(2)	4						AACTGGGCTGTGGGGGGGCGCT	0.723																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS46196.1, CCDS59424.1	19q13.42	2014-07-09	2014-07-09		ENSG00000179954	ENSG00000179954			26641	protein-coding gene	gene with protein product	"""soluble scavenger with 5 domains"""		"""scavenger receptor cysteine rich domain containing (5 domains)"""			19535143	Standard	NM_001144950		Approved	FLJ35258	uc002qlg.4	A1L4H1		ENST00000389623.6:c.728_729dupGG	19.37:g.56002280_56002281dupGG	ENSP00000374274:p.Gly242fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B5MDQ5|C7S7T9|C7S7U0|K7EP70	Frame_Shift_Ins	INS	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.A243fs	ENST00000389623.6	37	c.723_724	CCDS46196.1	19																																																																																			SSC5D	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt	ENSG00000179954		0.723	SSC5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSC5D	HGNC	protein_coding	OTTHUMT00000453345.2	11	0.00	0	-	XM_001718392		56002275	56002276	+1	no_errors	ENST00000389623	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.918:1.000	GG
TTN	7273	genome.wustl.edu	37	2	179547548	179547548	+	Silent	SNP	C	C	T	rs201652458		TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr2:179547548C>T	ENST00000591111.1	-	133	32243	c.32019G>A	c.(32017-32019)gaG>gaA	p.E10673E	TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.E10990E|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.E9746E|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCATATTCCTCATATTCTT	0.343																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.32019G>A	2.37:g.179547548C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E9746	ENST00000591111.1	37	c.29238		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.343	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	248	0.00	0	C	NM_133378		179547548	179547548	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	silent	284	13.94	46	SNP	0.341	T
UBA6	55236	genome.wustl.edu	37	4	68536192	68536192	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr4:68536192G>A	ENST00000322244.5	-	8	724	c.665C>T	c.(664-666)aCg>aTg	p.T222M	UBA6_ENST00000420827.2_Missense_Mutation_p.T222M	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6	222					protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|FAT10 activating enzyme activity (GO:0019780)|ligase activity (GO:0016874)			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TCATACTTGCGTTATGTTTGA	0.299																																						dbGAP											0													62.0	62.0	62.0					4																	68536192		2201	4292	6493	-	-	-	SO:0001583	missense	0			AK094164	CCDS3516.1	4q13.2	2008-02-05	2007-11-30	2007-11-30	ENSG00000033178	ENSG00000033178		"""Ubiquitin-like modifier activating enzymes"""	25581	protein-coding gene	gene with protein product	"""UBA6, ubiquitin-activating enzyme E1"""	611361	"""ubiquitin-activating enzyme E1-like 2"""	UBE1L2		17580310	Standard	NM_018227		Approved	FLJ10808	uc003hdg.4	A0AVT1	OTTHUMG00000129299	ENST00000322244.5:c.665C>T	4.37:g.68536192G>A	ENSP00000313454:p.Thr222Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6N8M7|B2RAV3|Q4W5K0|Q6UV21|Q86T78|Q86TC7|Q8N5T3|Q8N9E4|Q9H3T7|Q9NVC9	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.T222M	ENST00000322244.5	37	c.665	CCDS3516.1	4	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207358	0.79240	.	.	ENSG00000033178	ENST00000322244;ENST00000420827	T;T	0.26810	1.71;1.71	5.16	5.16	0.70880	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.58878	0.2153	M	0.89353	3.025	0.54753	D	0.999985	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.71870	0.949;0.975;0.855	T	0.67256	-0.5716	10	0.72032	D	0.01	-9.081	18.5922	0.91217	0.0:0.0:1.0:0.0	.	222;222;222	A0AVT1-4;A0AVT1-3;A0AVT1	.;.;UBA6_HUMAN	M	222	ENSP00000313454:T222M;ENSP00000399234:T222M	ENSP00000313454:T222M	T	-	2	0	UBA6	68218787	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.767000	0.74975	2.562000	0.86427	0.484000	0.47621	ACG	UBA6	-	superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000033178		0.299	UBA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA6	HGNC	protein_coding	OTTHUMT00000251429.2	78	0.00	0	G	NM_018227		68536192	68536192	-1	no_errors	ENST00000322244	ensembl	human	known	69_37n	missense	52	10.34	6	SNP	1.000	A
WDR81	124997	genome.wustl.edu	37	17	1628873	1628874	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr17:1628873_1628874insC	ENST00000409644.1	+	1	620_621	c.620_621insC	c.(619-624)tgccccfs	p.CP207fs	WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000309182.5_Intron|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	207					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAAGGCCCCTGCCCCCCTCGGG	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.626dupC	17.37:g.1628879_1628879dupC	ENSP00000386609:p.Cys207fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Frame_Shift_Ins	INS	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R210fs	ENST00000409644.1	37	c.620_621	CCDS54062.1	17																																																																																			WDR81	-	NULL	ENSG00000167716		0.584	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	10	0.00	0	-	NM_152348		1628873	1628874	+1	no_errors	ENST00000409644	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.025:0.000	C
ZNF234	10780	genome.wustl.edu	37	19	44660780	44660780	+	Missense_Mutation	SNP	A	A	G			TCGA-AN-A0FF-01A-11W-A050-09	TCGA-AN-A0FF-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	cd45e46c-50bf-449e-bb40-29ccffbbd49c	51960d24-2753-46e9-ab1d-e1b41c0ad0c5	g.chr19:44660780A>G	ENST00000426739.2	+	6	869	c.611A>G	c.(610-612)tAt>tGt	p.Y204C	ZNF234_ENST00000592437.1_Missense_Mutation_p.Y204C	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	204					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GAGAAATGCTATAAGTGTGAC	0.413																																						dbGAP											0													146.0	147.0	147.0					19																	44660780		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78927	CCDS46101.1	19q13	2013-01-08				ENSG00000263002		"""Zinc fingers, C2H2-type"", ""-"""	13027	protein-coding gene	gene with protein product		604750		ZNF269		7865130	Standard	NM_006630		Approved	HZF4	uc002oyl.4	Q14588		ENST00000426739.2:c.611A>G	19.37:g.44660780A>G	ENSP00000400878:p.Tyr204Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1C8|Q96IR4|Q9NS45|Q9NYT7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Y204C	ENST00000426739.2	37	c.611	CCDS46101.1	19	.	.	.	.	.	.	.	.	.	.	A	11.96	1.794902	0.31777	.	.	ENSG00000167380	ENST00000426739;ENST00000542402	T	0.25414	1.8	3.95	-0.98	0.10272	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42154	0.1190	M	0.84511	2.7	0.09310	N	1	D	0.61697	0.99	P	0.58620	0.842	T	0.28933	-1.0028	9	0.87932	D	0	.	3.4439	0.07473	0.4273:0.0:0.1747:0.398	.	204	Q14588	ZN234_HUMAN	C	204;33	ENSP00000400878:Y204C	ENSP00000400878:Y204C	Y	+	2	0	ZNF226	49352620	0.000000	0.05858	0.011000	0.14972	0.857000	0.48899	-1.903000	0.01594	-0.405000	0.07599	0.378000	0.23410	TAT	ZNF234	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000263002		0.413	ZNF234-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF234	HGNC	protein_coding	OTTHUMT00000460586.2	153	0.65	1	A			44660780	44660780	+1	no_errors	ENST00000426739	ensembl	human	known	69_37n	missense	141	35.02	76	SNP	0.039	G
