#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
ANKRD11	29123	genome.wustl.edu	37	16	89345615	89345615	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr16:89345615C>A	ENST00000301030.4	-	9	7795	c.7335G>T	c.(7333-7335)agG>agT	p.R2445S	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R2445S	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	2445					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CGATCTTCTTCCTGATCTGCA	0.612																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.7335G>T	16.37:g.89345615C>A	ENSP00000301030:p.Arg2445Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NTG1|Q6QMF8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R2445S	ENST00000301030.4	37	c.7335	CCDS32513.1	16	.	.	.	.	.	.	.	.	.	.	c	16.56	3.158244	0.57368	.	.	ENSG00000167522	ENST00000301030;ENST00000378330	T;T	0.56275	0.47;0.47	5.05	-8.13	0.01073	.	0.000000	0.64402	D	0.000010	T	0.64136	0.2571	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.72443	-0.4292	10	0.87932	D	0	.	6.8516	0.24018	0.0:0.2863:0.302:0.4117	.	2445	Q6UB99	ANR11_HUMAN	S	2445	ENSP00000301030:R2445S;ENSP00000367581:R2445S	ENSP00000301030:R2445S	R	-	3	2	ANKRD11	87873116	0.798000	0.28890	0.220000	0.23810	0.938000	0.57974	-0.090000	0.11163	-2.160000	0.00786	0.298000	0.19748	AGG	ANKRD11	-	NULL	ENSG00000167522		0.612	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	HGNC	protein_coding	OTTHUMT00000430462.3	42	0.00	0	C	NM_013275		89345615	89345615	-1	no_errors	ENST00000301030	ensembl	human	known	69_37n	missense	26	58.06	36	SNP	0.749	A
CNTRL	11064	genome.wustl.edu	37	9	123904505	123904507	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	AGA	AGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr9:123904505_123904507delAGA	ENST00000373855.1	+	19	3088_3090	c.2828_2830delAGA	c.(2827-2832)gagaag>gag	p.K944del	CNTRL_ENST00000373850.1_In_Frame_Del_p.K392del|CNTRL_ENST00000373847.1_In_Frame_Del_p.K392del|CNTRL_ENST00000238341.5_In_Frame_Del_p.K944del			Q7Z7A1	CNTRL_HUMAN	centriolin	944					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						GCTGATGAAGAGAAGGAGAGAAT	0.433																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.2828_2830delAGA	9.37:g.123904505_123904507delAGA	ENSP00000362962:p.Lys944del	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	In_Frame_Del	DEL	pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp	p.K944in_frame_del	ENST00000373855.1	37	c.2828_2830	CCDS35118.1	9																																																																																			CNTRL	-	NULL	ENSG00000119397		0.433	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTRL	HGNC	protein_coding	OTTHUMT00000250216.1	18	0.00	0	AGA	NM_007018		123904505	123904507	+1	no_errors	ENST00000238341	ensembl	human	known	69_37n	in_frame_del	20	35.48	11	DEL	1.000:1.000:1.000	-
CYP24A1	1591	genome.wustl.edu	37	20	52773723	52773723	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr20:52773723G>A	ENST00000216862.3	-	11	1933	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*	CYP24A1_ENST00000395955.3_Nonsense_Mutation_p.R448*|CYP24A1_ENST00000460643.1_5'UTR|CYP24A1_ENST00000395954.3_Nonsense_Mutation_p.R372*	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	514					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)	GCGTATTATCGCTGGCAAAAC	0.557																																						dbGAP											0													64.0	53.0	57.0					20																	52773723		2203	4300	6503	-	-	-	SO:0001587	stop_gained	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.1540C>T	20.37:g.52773723G>A	ENSP00000216862:p.Arg514*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15807|Q32ML3|Q5I2W7	Nonsense_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.R514*	ENST00000216862.3	37	c.1540	CCDS33491.1	20	.	.	.	.	.	.	.	.	.	.	g	36	5.884239	0.97062	.	.	ENSG00000019186	ENST00000216862;ENST00000395955;ENST00000395954	.	.	.	5.53	3.53	0.40419	.	0.064414	0.64402	D	0.000008	.	.	.	.	.	.	0.48632	D	0.999685	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-24.6967	12.9123	0.58187	0.0:0.0:0.5744:0.4256	.	.	.	.	X	514;448;372	.	ENSP00000216862:R514X	R	-	1	2	CYP24A1	52207130	0.997000	0.39634	0.165000	0.22776	0.010000	0.07245	2.475000	0.45162	0.655000	0.30866	0.645000	0.84053	CGA	CYP24A1	-	superfamily_Cyt_P450	ENSG00000019186		0.557	CYP24A1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP24A1	HGNC	protein_coding	OTTHUMT00000079769.2	26	0.00	0	G			52773723	52773723	-1	no_errors	ENST00000216862	ensembl	human	known	69_37n	nonsense	35	28.57	14	SNP	0.338	A
DCHS1	8642	genome.wustl.edu	37	11	6644754	6644754	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr11:6644754T>C	ENST00000299441.3	-	21	8564	c.8153A>G	c.(8152-8154)aAt>aGt	p.N2718S	RP11-732A19.5_ENST00000526456.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2718	Cadherin 26. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAGGCTGATTCTCGGCCAC	0.577																																						dbGAP											0													54.0	46.0	49.0					11																	6644754		2200	4296	6496	-	-	-	SO:0001583	missense	0			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.8153A>G	11.37:g.6644754T>C	ENSP00000299441:p.Asn2718Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N2718S	ENST00000299441.3	37	c.8153	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	T	18.63	3.665415	0.67700	.	.	ENSG00000166341	ENST00000299441	T	0.61510	0.1	5.41	5.41	0.78517	Cadherin (3);Cadherin-like (1);	0.000000	0.42964	D	0.000627	T	0.77274	0.4106	M	0.82323	2.585	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.79902	-0.1607	10	0.54805	T	0.06	.	14.4252	0.67210	0.0:0.0:0.0:1.0	.	2718	Q96JQ0	PCD16_HUMAN	S	2718	ENSP00000299441:N2718S	ENSP00000299441:N2718S	N	-	2	0	DCHS1	6601330	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.868000	0.87116	2.281000	0.76405	0.533000	0.62120	AAT	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000166341		0.577	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	34	0.00	0	T	NM_003737		6644754	6644754	-1	no_errors	ENST00000299441	ensembl	human	known	69_37n	missense	13	35.00	7	SNP	1.000	C
NUTM2F	54754	genome.wustl.edu	37	9	97084511	97084511	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr9:97084511G>A	ENST00000253262.4	-	3	834	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W	NUTM2F_ENST00000335456.7_Missense_Mutation_p.R272W|NUTM2F_ENST00000341207.4_Missense_Mutation_p.R272W	NM_017561.1	NP_060031.1	A1L443	NTM2F_HUMAN	NUT family member 2F	272																	AAGATCATCCGGTCAAAGTTG	0.647																																						dbGAP											0													62.0	74.0	70.0					9																	97084511		1383	2623	4006	-	-	-	SO:0001583	missense	0				CCDS47994.1	9q22.32	2013-05-02	2013-03-14	2013-05-02	ENSG00000130950	ENSG00000130950			23450	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member F"""	FAM22F			Standard	NM_017561		Approved	DKFZp434I1117		A1L443	OTTHUMG00000020260	ENST00000253262.4:c.814C>T	9.37:g.97084511G>A	ENSP00000253262:p.Arg272Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B6ZDF0|Q5SR58|Q5SR59|Q9UFB1	Missense_Mutation	SNP	NULL	p.R272W	ENST00000253262.4	37	c.814	CCDS47994.1	9	.	.	.	.	.	.	.	.	.	.	.	13.16	2.155076	0.38021	.	.	ENSG00000130950	ENST00000335456;ENST00000253262;ENST00000341207	T;T;T	0.38722	1.12;1.12;1.12	1.2	1.2	0.21068	Nuclear Testis  protein, N-terminal (1);	0.136860	0.34088	N	0.004279	T	0.36908	0.0984	M	0.74647	2.275	0.09310	N	1	P	0.45348	0.856	B	0.39562	0.303	T	0.36578	-0.9742	10	0.66056	D	0.02	.	5.8356	0.18605	0.0:0.0:1.0:0.0	.	272	A1L443	FA22F_HUMAN	W	272	ENSP00000335067:R272W;ENSP00000253262:R272W;ENSP00000343865:R272W	ENSP00000253262:R272W	R	-	1	2	FAM22F	96124332	0.996000	0.38824	0.056000	0.19401	0.745000	0.42441	0.924000	0.28777	0.992000	0.38840	0.456000	0.33151	CGG	FAM22F	-	NULL	ENSG00000130950		0.647	NUTM2F-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22F	HGNC	protein_coding	OTTHUMT00000053173.2	109	0.91	1	G	NM_017561		97084511	97084511	-1	no_errors	ENST00000253262	ensembl	human	known	69_37n	missense	21	51.16	22	SNP	0.068	A
BRINP2	57795	genome.wustl.edu	37	1	177247731	177247731	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr1:177247731G>A	ENST00000361539.4	+	7	1357	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N	BRINP2_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	349					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											AAGGCTGCCCGATGACCGGTT	0.577																																						dbGAP											0													159.0	169.0	166.0					1																	177247731		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.1045G>A	1.37:g.177247731G>A	ENSP00000354481:p.Asp349Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	O95560|Q6ZWC1|Q7LCZ9|Q8N360	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.D349N	ENST00000361539.4	37	c.1045	CCDS1320.1	1	.	.	.	.	.	.	.	.	.	.	G	8.858	0.946325	0.18356	.	.	ENSG00000198797	ENST00000536589;ENST00000361539	T	0.13538	2.58	5.39	3.51	0.40186	.	0.790796	0.12377	N	0.474223	T	0.07188	0.0182	N	0.08118	0	0.09310	N	1	B;B;B	0.30937	0.031;0.301;0.0	B;B;B	0.30029	0.014;0.11;0.0	T	0.40175	-0.9577	10	0.17369	T	0.5	-0.4868	10.9721	0.47444	0.1543:0.0:0.8457:0.0	.	99;244;349	F5H8E0;Q9C0B6-2;Q9C0B6	.;.;FAM5B_HUMAN	N	99;349	ENSP00000354481:D349N	ENSP00000354481:D349N	D	+	1	0	FAM5B	175514354	0.001000	0.12720	0.001000	0.08648	0.876000	0.50452	1.284000	0.33249	0.647000	0.30713	-0.119000	0.15052	GAT	FAM5B	-	NULL	ENSG00000198797		0.577	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5B	HGNC	protein_coding	OTTHUMT00000084599.1	17	0.00	0	G	NM_021165		177247731	177247731	+1	no_errors	ENST00000361539	ensembl	human	known	69_37n	missense	14	39.13	9	SNP	0.003	A
FBN1	2200	genome.wustl.edu	37	15	48707819	48707819	+	Silent	SNP	C	C	T	rs363843|rs199887650		TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr15:48707819C>T	ENST00000316623.5	-	64	8420	c.7965G>A	c.(7963-7965)gcG>gcA	p.A2655A	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2655	EGF-like 47; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGGGGGCCTGCGCAGAGCCAC	0.567													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16677	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													103.0	91.0	95.0					15																	48707819		2198	4296	6494	-	-	-	SO:0001819	synonymous_variant	0			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.7965G>A	15.37:g.48707819C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RUU0|D2JYH6|Q15972|Q75N87	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.A2655	ENST00000316623.5	37	c.7965	CCDS32232.1	15																																																																																			FBN1	-	pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin	ENSG00000166147		0.567	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	23	0.00	0	C			48707819	48707819	-1	no_errors	ENST00000316623	ensembl	human	known	69_37n	silent	36	30.77	16	SNP	0.000	T
FBN3	84467	genome.wustl.edu	37	19	8210774	8210775	+	Frame_Shift_Ins	INS	-	-	C			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr19:8210774_8210775insC	ENST00000600128.1	-	5	811_812	c.397_398insG	c.(397-399)gcgfs	p.A133fs	FBN3_ENST00000270509.2_Frame_Shift_Ins_p.A133fs|FBN3_ENST00000601739.1_Frame_Shift_Ins_p.A133fs			Q75N90	FBN3_HUMAN	fibrillin 3	133						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CAGACAGGACGCCCCCCGGCAG	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.398dupG	19.37:g.8210780_8210780dupC	ENSP00000470498:p.Ala133fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Frame_Shift_Ins	INS	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EGF-like_dom,superfamily_TB_dom,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom	p.A133fs	ENST00000600128.1	37	c.398_397	CCDS12196.1	19																																																																																			FBN3	-	smart_EGF-like,pirsf_Fibrillin	ENSG00000142449		0.619	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	27	0.00	0	-	NM_032447		8210774	8210775	-1	no_errors	ENST00000270509	ensembl	human	known	69_37n	frame_shift_ins	11	15.38	2	INS	0.998:1.000	C
IFT140	9742	genome.wustl.edu	37	16	1621431	1621431	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr16:1621431A>T	ENST00000426508.2	-	14	1992	c.1629T>A	c.(1627-1629)ttT>ttA	p.F543L	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	543					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CAAAGCTTTTAAAGTGAGCCA	0.423																																						dbGAP											0													63.0	63.0	63.0					16																	1621431		2199	4300	6499	-	-	-	SO:0001583	missense	0			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.1629T>A	16.37:g.1621431A>T	ENSP00000406012:p.Phe543Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F543L	ENST00000426508.2	37	c.1629	CCDS10439.1	16	.	.	.	.	.	.	.	.	.	.	A	5.594	0.294426	0.10567	.	.	ENSG00000187535	ENST00000397417;ENST00000426508;ENST00000439987	T	0.66460	-0.21	5.56	1.84	0.25277	WD40/YVTN repeat-like-containing domain (1);	0.181068	0.48767	N	0.000167	T	0.54727	0.1876	L	0.58302	1.8	0.40252	D	0.978087	B;B	0.10296	0.002;0.003	B;B	0.12156	0.003;0.007	T	0.42582	-0.9443	10	0.08837	T	0.75	.	8.9399	0.35722	0.537:0.0:0.463:0.0	.	543;268	Q96RY7;B4DR58	IF140_HUMAN;.	L	543	ENSP00000406012:F543L	ENSP00000380562:F543L	F	-	3	2	IFT140	1561432	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	0.546000	0.23284	0.432000	0.26286	0.533000	0.62120	TTT	IFT140	-	NULL	ENSG00000187535		0.423	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT140	HGNC	protein_coding	OTTHUMT00000250438.2	26	0.00	0	A	NM_014714		1621431	1621431	-1	no_errors	ENST00000426508	ensembl	human	known	69_37n	missense	21	34.38	11	SNP	1.000	T
NWD2	57495	genome.wustl.edu	37	4	37446795	37446796	+	Frame_Shift_Del	DEL	AT	AT	-	rs534495451	byFrequency	TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	AT	AT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr4:37446795_37446796delAT	ENST00000309447.5	+	7	4033_4034	c.3185_3186delAT	c.(3184-3186)aatfs	p.N1062fs		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		1062										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						ACCTACATCAATGGATTTACAC	0.485																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0																														ENST00000309447.5:c.3185_3186delAT	4.37:g.37446795_37446796delAT	ENSP00000309501:p.Asn1062fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRU1	Frame_Shift_Del	DEL	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.N1062fs	ENST00000309447.5	37	c.3185_3186	CCDS47040.1	4																																																																																			KIAA1239	-	superfamily_WD40_repeat_dom	ENSG00000174145		0.485	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	82	0.00	0	AT			37446795	37446796	+1	no_errors	ENST00000309447	ensembl	human	known	69_37n	frame_shift_del	46	37.84	28	DEL	1.000:1.000	-
NWD2	57495	genome.wustl.edu	37	4	37446805	37446805	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr4:37446805delA	ENST00000309447.5	+	7	4043	c.3195delA	c.(3193-3195)acafs	p.T1065fs		NM_001144990.1	NP_001138462.1	Q9ULI1	NWD2_HUMAN		1065										breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(2)|skin(2)	16						ATGGATTTACACTGTCCGCCA	0.502																																						dbGAP											0													156.0	124.0	134.0					4																	37446805		692	1591	2283	-	-	-	SO:0001589	frameshift_variant	0																														ENST00000309447.5:c.3195delA	4.37:g.37446805delA	ENSP00000309501:p.Thr1065fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MRU1	Frame_Shift_Del	DEL	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.L1066fs	ENST00000309447.5	37	c.3195	CCDS47040.1	4																																																																																			KIAA1239	-	superfamily_WD40_repeat_dom	ENSG00000174145		0.502	KIAA1239-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1239	HGNC	protein_coding	OTTHUMT00000347551.2	85	0.00	0	A			37446805	37446805	+1	no_errors	ENST00000309447	ensembl	human	known	69_37n	frame_shift_del	51	36.59	30	DEL	0.003	-
LARP7	51574	genome.wustl.edu	37	4	113575296	113575296	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr4:113575296A>T	ENST00000344442.5	+	12	1927	c.1649A>T	c.(1648-1650)aAg>aTg	p.K550M	LARP7_ENST00000509061.1_Missense_Mutation_p.K557M|LARP7_ENST00000324052.6_Missense_Mutation_p.K550M	NM_016648.3	NP_057732.2	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	550					RNA processing (GO:0006396)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CCTCGGGAAAAGAAAAGAGGC	0.348																																						dbGAP											0													114.0	117.0	116.0					4																	113575296		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF068284	CCDS3701.2, CCDS58924.1	4q25	2013-02-12			ENSG00000174720	ENSG00000174720		"""La ribonucleoprotein domain containing"", ""RNA binding motif (RRM) containing"""	24912	protein-coding gene	gene with protein product	"""P-TEFb-interaction protein for 7SK stability"""	612026				18191186, 18249148, 18281698, 22865833, 22488152	Standard	NM_016648		Approved	HDCMA18P, PIP7S, DKFZP564K112	uc003ibb.4	Q4G0J3	OTTHUMG00000132909	ENST00000344442.5:c.1649A>T	4.37:g.113575296A>T	ENSP00000344950:p.Lys550Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B2ZHN6|Q3B7A9|Q9P1S7|Q9Y3Z8	Missense_Mutation	SNP	pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La	p.K550M	ENST00000344442.5	37	c.1649	CCDS3701.2	4	.	.	.	.	.	.	.	.	.	.	A	23.3	4.399368	0.83120	.	.	ENSG00000174720	ENST00000344442;ENST00000509061;ENST00000324052	T;T;T	0.45276	0.9;0.9;0.9	5.35	5.35	0.76521	Nucleotide-binding, alpha-beta plait (1);RNA-binding motif (1);	0.000000	0.85682	D	0.000000	T	0.66896	0.2836	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72424	-0.4298	10	0.87932	D	0	-25.8154	15.3443	0.74324	1.0:0.0:0.0:0.0	.	550	Q4G0J3	LARP7_HUMAN	M	550;557;550	ENSP00000344950:K550M;ENSP00000422626:K557M;ENSP00000314311:K550M	ENSP00000314311:K550M	K	+	2	0	LARP7	113794745	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.900000	0.92551	2.025000	0.59659	0.482000	0.46254	AAG	LARP7	-	pfam_RRM_3	ENSG00000174720		0.348	LARP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP7	HGNC	protein_coding	OTTHUMT00000256417.2	64	0.00	0	A	NM_016648		113575296	113575296	+1	no_errors	ENST00000324052	ensembl	human	known	69_37n	missense	21	54.35	25	SNP	1.000	T
MICAL3	57553	genome.wustl.edu	37	22	18305741	18305742	+	Frame_Shift_Ins	INS	-	-	G	rs568990780	byFrequency	TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr22:18305741_18305742insG	ENST00000441493.2	-	23	3630_3631	c.3278_3279insC	c.(3277-3279)ccafs	p.P1093fs		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1093	Glu-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CAGTGTCCCCTGGGTCCCCATC	0.574																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.3279dupC	22.37:g.18305744_18305744dupG	ENSP00000416015:p.Pro1093fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Frame_Shift_Ins	INS	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.G1094fs	ENST00000441493.2	37	c.3279_3278	CCDS46659.1	22																																																																																			MICAL3	-	NULL	ENSG00000243156		0.574	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	72	0.00	0	-			18305741	18305742	-1	no_errors	ENST00000441493	ensembl	human	known	69_37n	frame_shift_ins	17	10.53	2	INS	0.023:0.626	G
NAA11	84779	genome.wustl.edu	37	4	80246803	80246803	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr4:80246803C>T	ENST00000286794.4	-	1	401	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	NAA11_ENST00000513733.1_5'Flank	NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	77	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.				N-terminal protein amino acid acetylation (GO:0006474)	NatA complex (GO:0031415)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						GAACGCTTCACGGCCAGTGAG	0.567																																						dbGAP											0													85.0	87.0	86.0					4																	80246803		2169	4288	6457	-	-	-	SO:0001583	missense	0				CCDS47084.1	4q21.23	2010-05-07	2010-01-14	2010-01-14		ENSG00000156269	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	28125	protein-coding gene	gene with protein product			"""ARD1 homolog B (S. cerevisiae)"""	ARD1B		16638120, 19660095	Standard	NM_032693		Approved	ARD2, hARD2	uc003hlt.4	Q9BSU3		ENST00000286794.4:c.229G>A	4.37:g.80246803C>T	ENSP00000286794:p.Val77Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q66K19|Q6P479	Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.V77M	ENST00000286794.4	37	c.229	CCDS47084.1	4	.	.	.	.	.	.	.	.	.	.	C	25.8	4.672255	0.88348	.	.	ENSG00000156269	ENST00000286794	T	0.72167	-0.63	5.17	5.17	0.71159	GCN5-related N-acetyltransferase (GNAT) domain (2);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	U	0.000000	D	0.91019	0.7175	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.94196	0.7445	9	.	.	.	-19.6849	16.5838	0.84722	0.0:1.0:0.0:0.0	.	77	Q9BSU3	NAA11_HUMAN	M	77	ENSP00000286794:V77M	.	V	-	1	0	NAA11	80465827	1.000000	0.71417	0.964000	0.40570	0.812000	0.45895	6.837000	0.75354	2.861000	0.98227	0.655000	0.94253	GTG	NAA11	-	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	ENSG00000156269		0.567	NAA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA11	HGNC	protein_coding	OTTHUMT00000362922.1	62	0.00	0	C			80246803	80246803	-1	no_errors	ENST00000286794	ensembl	human	known	69_37n	missense	14	53.12	17	SNP	1.000	T
NACAP1	83955	genome.wustl.edu	37	8	102381649	102381650	+	RNA	INS	-	-	A			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr8:102381649_102381650insA	ENST00000419462.1	+	0	1061_1062					NR_002182.1		Q9BZK3	NACP1_HUMAN	nascent-polypeptide-associated complex alpha polypeptide pseudogene 1																		AAGAGGTCGATGAAACAGGTGT	0.431																																						dbGAP											0																																										-	-	-			0			AF315951		8q22.3	2007-04-20				ENSG00000228224			24688	pseudogene	pseudogene							Standard	NR_002182		Approved	FKSG17	uc003ykc.1	Q9BZK3			8.37:g.102381649_102381650insA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	INS	-	NULL	ENST00000419462.1	37	NULL		8																																																																																			NACAP1	-	-	ENSG00000228224		0.431	NACAP1-001	KNOWN	basic	processed_transcript	NACAP1	HGNC	pseudogene	OTTHUMT00000380521.1	63	0.00	0	-	NR_002182		102381649	102381650	+1	no_errors	ENST00000419462	ensembl	human	known	69_37n	rna	189	15.62	35	INS	1.000:1.000	A
NDUFA1	4694	genome.wustl.edu	37	X	119005895	119005895	+	Silent	SNP	C	C	T			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chrX:119005895C>T	ENST00000371437.4	+	1	446	c.21C>T	c.(19-21)ccC>ccT	p.P7P	RNF113A_ENST00000371442.2_5'Flank	NM_004541.3	NP_004532.1	O15239	NDUA1_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa	7					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(1)|large_intestine(2)|stomach(1)	5						AGATTCTCCCCGGACTCTCCG	0.582																																						dbGAP											0													184.0	148.0	160.0					X																	119005895		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS14590.1	Xq24	2011-07-04	2002-08-29		ENSG00000125356	ENSG00000125356		"""Mitochondrial respiratory chain complex / Complex I"""	7683	protein-coding gene	gene with protein product	"""NADH:ubiquinone oxidoreductase (complex 1)"", ""type I dehydrogenase"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"", ""complex I MWFE subunit"""	300078	"""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1 (7.5kD, MWFE)"""			8938439	Standard	NM_004541		Approved	MWFE, CI-MWFE	uc004esc.4	O15239	OTTHUMG00000022287	ENST00000371437.4:c.21C>T	X.37:g.119005895C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pirsf_NADH_Ub_cplx-1_asu_su-1	p.P7	ENST00000371437.4	37	c.21	CCDS14590.1	X																																																																																			NDUFA1	-	pirsf_NADH_Ub_cplx-1_asu_su-1	ENSG00000125356		0.582	NDUFA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFA1	HGNC	protein_coding	OTTHUMT00000058080.1	52	0.00	0	C	NM_004541		119005895	119005895	+1	no_errors	ENST00000371437	ensembl	human	known	69_37n	silent	31	11.43	4	SNP	0.730	T
PDCD11	22984	genome.wustl.edu	37	10	105200305	105200305	+	Silent	SNP	C	C	T			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr10:105200305C>T	ENST00000369797.3	+	29	4501	c.4407C>T	c.(4405-4407)ggC>ggT	p.G1469G		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1469					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)		AGAAGCGGGGCGGGCGGGAGT	0.647																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	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.4407C>T	10.37:g.105200305C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	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.G1469	ENST00000369797.3	37	c.4407	CCDS31276.1	10																																																																																			PDCD11	-	NULL	ENSG00000148843		0.647	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1	35	0.00	0	C			105200305	105200305	+1	no_errors	ENST00000369797	ensembl	human	known	69_37n	silent	24	35.14	13	SNP	0.964	T
PIK3C2A	5286	genome.wustl.edu	37	11	17190547	17190547	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr11:17190547T>A	ENST00000265970.7	-	1	741	c.742A>T	c.(742-744)Ata>Tta	p.I248L	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	248					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GAATCTGTTATCTCCAAATCA	0.368																																						dbGAP											0													66.0	60.0	62.0					11																	17190547		2200	4293	6493	-	-	-	SO:0001583	missense	0			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.742A>T	11.37:g.17190547T>A	ENSP00000265970:p.Ile248Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.I248L	ENST00000265970.7	37	c.742	CCDS7824.1	11	.	.	.	.	.	.	.	.	.	.	T	9.822	1.186108	0.21870	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.62105	0.05	5.49	4.33	0.51752	.	1.007370	0.07961	N	0.982403	T	0.43433	0.1247	L	0.27053	0.805	0.80722	D	1	B;B	0.30146	0.27;0.011	B;B	0.18561	0.022;0.003	T	0.22941	-1.0202	10	0.20046	T	0.44	-13.0099	4.5166	0.11937	0.1458:0.1471:0.0:0.707	.	248;248	F5H5W9;O00443	.;P3C2A_HUMAN	L	248	ENSP00000265970:I248L	ENSP00000265970:I248L	I	-	1	0	PIK3C2A	17147123	0.957000	0.32711	0.997000	0.53966	0.995000	0.86356	1.030000	0.30153	0.870000	0.35726	0.460000	0.39030	ATA	PIK3C2A	-	NULL	ENSG00000011405		0.368	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1	32	0.00	0	T	NM_002645		17190547	17190547	-1	no_errors	ENST00000265970	ensembl	human	known	69_37n	missense	46	45.24	38	SNP	0.893	A
PIK3R1	5295	genome.wustl.edu	37	5	67591083	67591083	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr5:67591083T>C	ENST00000521381.1	+	13	2292	c.1676T>C	c.(1675-1677)aTt>aCt	p.I559T	PIK3R1_ENST00000274335.5_Missense_Mutation_p.I559T|PIK3R1_ENST00000521657.1_Missense_Mutation_p.I559T|PIK3R1_ENST00000523872.1_Missense_Mutation_p.I196T|PIK3R1_ENST00000320694.8_Missense_Mutation_p.I259T|PIK3R1_ENST00000396611.1_Missense_Mutation_p.I559T|PIK3R1_ENST00000336483.5_Missense_Mutation_p.I289T	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	559					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.R557_K561>Q(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	TATCGAGAAATTGACAAACGT	0.363			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												dbGAP		Rec	yes		5	5q13.1	5295	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""		"""E, O"""	3	Whole gene deletion(1)|Complex - deletion inframe(1)|Unknown(1)	large_intestine(1)|lung(1)|endometrium(1)											138.0	139.0	138.0					5																	67591083		2203	4300	6503	-	-	-	SO:0001583	missense	0			M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1676T>C	5.37:g.67591083T>C	ENSP00000428056:p.Ile559Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	Missense_Mutation	SNP	pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.I559T	ENST00000521381.1	37	c.1676	CCDS3993.1	5	.	.	.	.	.	.	.	.	.	.	T	19.63	3.863828	0.71949	.	.	ENSG00000145675	ENST00000521381;ENST00000521657;ENST00000396611;ENST00000274335;ENST00000320694;ENST00000336483;ENST00000523872	T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.34832	0.0911	L	0.40543	1.245	0.80722	D	1	B;B;B;P	0.44090	0.009;0.025;0.025;0.826	B;B;B;P	0.48030	0.023;0.084;0.084;0.564	T	0.05599	-1.0875	10	0.42905	T	0.14	-18.5226	15.2043	0.73165	0.0:0.0:0.0:1.0	.	229;289;259;559	B7Z2N8;P27986-2;P27986-3;P27986	.;.;.;P85A_HUMAN	T	559;559;559;559;259;289;196	ENSP00000428056:I559T;ENSP00000429277:I559T;ENSP00000379855:I559T;ENSP00000274335:I559T;ENSP00000323512:I259T;ENSP00000338554:I289T;ENSP00000430098:I196T	ENSP00000274335:I559T	I	+	2	0	PIK3R1	67626839	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.090000	0.71397	2.238000	0.73509	0.477000	0.44152	ATT	PIK3R1	-	prints_PI3kinase_P85	ENSG00000145675		0.363	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3R1	HGNC	protein_coding	OTTHUMT00000254013.2	64	0.00	0	T	NM_181504		67591083	67591083	+1	no_errors	ENST00000396611	ensembl	human	known	69_37n	missense	33	49.23	32	SNP	1.000	C
PTHLH	5744	genome.wustl.edu	37	12	28116584	28116584	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr12:28116584G>A	ENST00000545234.1	-	5	761	c.221C>T	c.(220-222)gCt>gTt	p.A74V	PTHLH_ENST00000539239.1_Missense_Mutation_p.A74V|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000535992.1_Missense_Mutation_p.A74V|PTHLH_ENST00000538310.1_Missense_Mutation_p.A74V|PTHLH_ENST00000354417.3_Missense_Mutation_p.A74V|PTHLH_ENST00000395872.1_Missense_Mutation_p.A74V|PTHLH_ENST00000201015.4_Missense_Mutation_p.A74V|PTHLH_ENST00000395868.3_Missense_Mutation_p.A74V			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	74					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP metabolic process (GO:0046058)|cell-cell signaling (GO:0007267)|endochondral ossification (GO:0001958)|endoderm development (GO:0007492)|epidermis development (GO:0008544)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|lung alveolus development (GO:0048286)|mammary gland bud elongation (GO:0060649)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|nipple sheath formation (GO:0060659)|osteoblast development (GO:0002076)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|protein processing (GO:0016485)|regulation of gene expression (GO:0010468)|skeletal system development (GO:0001501)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	hormone activity (GO:0005179)|peptide hormone receptor binding (GO:0051428)			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					CTCCGAGGTAGCTCTGATTTC	0.517																																						dbGAP											0													179.0	181.0	181.0					12																	28116584		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8715.1, CCDS44853.1	12p12.1-p11.2	2014-01-07			ENSG00000087494	ENSG00000087494		"""Endogenous ligands"""	9607	protein-coding gene	gene with protein product	"""osteostatin"", ""parathyroid hormone-like hormone preproprotein"", ""parathyroid hormone-related protein preproprotein"""	168470				2708388	Standard	NM_002820		Approved	PTHRP, HHM, PLP, PTHR	uc001ril.3	P12272	OTTHUMG00000169221	ENST00000545234.1:c.221C>T	12.37:g.28116584G>A	ENSP00000441765:p.Ala74Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15251|Q6FH74	Missense_Mutation	SNP	pfam_PTH/PTH-rel,smart_PTH/PTH-rel	p.A74V	ENST00000545234.1	37	c.221	CCDS44853.1	12	.	.	.	.	.	.	.	.	.	.	G	26.2	4.719497	0.89205	.	.	ENSG00000087494	ENST00000395872;ENST00000539239;ENST00000545234;ENST00000538310;ENST00000354417;ENST00000201015;ENST00000535992;ENST00000395868;ENST00000542963;ENST00000534890	D;D;D;D;D;D;D;D;D;D	0.82167	-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58;-1.58	5.83	4.91	0.64330	.	0.162599	0.56097	D	0.000030	T	0.81912	0.4923	L	0.50333	1.59	0.44268	D	0.997127	P	0.40000	0.698	B	0.42625	0.393	T	0.83243	-0.0057	10	0.66056	D	0.02	-4.706	15.1352	0.72558	0.0:0.0:0.8577:0.1423	.	74	P12272	PTHR_HUMAN	V	74;74;74;74;74;74;74;74;74;82	ENSP00000379213:A74V;ENSP00000441571:A74V;ENSP00000441765:A74V;ENSP00000441890:A74V;ENSP00000346398:A74V;ENSP00000201015:A74V;ENSP00000440613:A74V;ENSP00000379209:A74V;ENSP00000444519:A74V;ENSP00000445157:A82V	ENSP00000201015:A74V	A	-	2	0	PTHLH	28007851	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.925000	0.87563	1.407000	0.46875	0.585000	0.79938	GCT	PTHLH	-	pfam_PTH/PTH-rel	ENSG00000087494		0.517	PTHLH-001	KNOWN	basic|CCDS	protein_coding	PTHLH	HGNC	protein_coding	OTTHUMT00000402913.1	58	0.00	0	G	NM_198965		28116584	28116584	-1	no_errors	ENST00000354417	ensembl	human	known	69_37n	missense	53	38.37	33	SNP	1.000	A
RAB30	27314	genome.wustl.edu	37	11	82708280	82708280	+	Silent	SNP	G	G	T			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr11:82708280G>T	ENST00000533486.1	-	3	363	c.79C>A	c.(79-81)Cga>Aga	p.R27R	RAB30_ENST00000532548.1_Silent_p.R27R|RAB30_ENST00000534141.1_Silent_p.R27R|RP11-659G9.3_ENST00000527550.1_RNA|RAB30_ENST00000527633.1_Silent_p.R27R|RAB30_ENST00000260056.2_Silent_p.R27R|RAB30_ENST00000525117.1_Silent_p.R27R	NM_014488.3	NP_055303.2	Q15771	RAB30_HUMAN	RAB30, member RAS oncogene family	27					Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cis-Golgi network (GO:0005801)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						GTGAATCTTCGGACGAGGCAC	0.483																																						dbGAP											0													113.0	96.0	102.0					11																	82708280		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U57092	CCDS8264.1	11q12-q14	2008-07-21				ENSG00000137502		"""RAB, member RAS oncogene"""	9770	protein-coding gene	gene with protein product		605693				8863739, 9792283	Standard	NM_014488		Approved		uc001ozu.3	Q15771		ENST00000533486.1:c.79C>A	11.37:g.82708280G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6FGK1|Q6MZH2|Q96CI8	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.R27	ENST00000533486.1	37	c.79	CCDS8264.1	11																																																																																			RAB30	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000137502		0.483	RAB30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB30	HGNC	protein_coding	OTTHUMT00000392141.1	81	0.00	0	G	NM_014488		82708280	82708280	-1	no_errors	ENST00000260056	ensembl	human	known	69_37n	silent	84	38.69	53	SNP	1.000	T
RASGRP3	25780	genome.wustl.edu	37	2	33749009	33749009	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr2:33749009T>C	ENST00000403687.3	+	8	1320	c.580T>C	c.(580-582)Tcg>Ccg	p.S194P	RASGRP3_ENST00000402538.3_Missense_Mutation_p.S194P|RASGRP3_ENST00000407811.1_Missense_Mutation_p.S194P	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	194	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					CTTGGAAAGATCGATTGCTTT	0.403																																						dbGAP											0													166.0	157.0	160.0					2																	33749009		1848	4094	5942	-	-	-	SO:0001583	missense	0			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.580T>C	2.37:g.33749009T>C	ENSP00000384192:p.Ser194Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	D6W583|O94931|Q53SD7	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.S194P	ENST00000403687.3	37	c.580	CCDS46256.1	2	.	.	.	.	.	.	.	.	.	.	T	23.5	4.425343	0.83667	.	.	ENSG00000152689	ENST00000402538;ENST00000403687;ENST00000407811	T;T;T	0.30714	1.52;1.52;1.52	5.51	5.51	0.81932	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	M	0.87547	2.89	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.70227	0.968;0.968	T	0.67401	-0.5680	10	0.56958	D	0.05	-14.1605	15.6466	0.77061	0.0:0.0:0.0:1.0	.	194;194	D6W583;Q8IV61	.;GRP3_HUMAN	P	194	ENSP00000385886:S194P;ENSP00000384192:S194P;ENSP00000383917:S194P	ENSP00000385886:S194P	S	+	1	0	RASGRP3	33602513	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	8.036000	0.88901	2.088000	0.63022	0.533000	0.62120	TCG	RASGRP3	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25	ENSG00000152689		0.403	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RASGRP3	HGNC	protein_coding	OTTHUMT00000325462.2	41	0.00	0	T	NM_015376		33749009	33749009	+1	no_errors	ENST00000402538	ensembl	human	known	69_37n	missense	49	14.04	8	SNP	1.000	C
STK32A	202374	genome.wustl.edu	37	5	146750276	146750276	+	Silent	SNP	G	G	C			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr5:146750276G>C	ENST00000397936.3	+	9	1053	c.720G>C	c.(718-720)acG>acC	p.T240T	STK32A_ENST00000398523.3_Silent_p.T240T	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	240	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTTGAGACGACTGTTGTAA	0.403																																						dbGAP											0													198.0	171.0	179.0					5																	146750276		1568	3582	5150	-	-	-	SO:0001819	synonymous_variant	0				CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.720G>C	5.37:g.146750276G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSY0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T240	ENST00000397936.3	37	c.720	CCDS47299.1	5																																																																																			STK32A	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000169302		0.403	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STK32A	HGNC	protein_coding	OTTHUMT00000373306.1	47	0.00	0	G	NM_145001		146750276	146750276	+1	no_errors	ENST00000397936	ensembl	human	known	69_37n	silent	47	46.59	41	SNP	0.024	C
TAF3	83860	genome.wustl.edu	37	10	8006644	8006644	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr10:8006644A>G	ENST00000344293.5	+	3	1377	c.1171A>G	c.(1171-1173)Atc>Gtc	p.I391V		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	391					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TGAGGCCTCTATCGATGCTGT	0.468																																						dbGAP											0													74.0	71.0	72.0					10																	8006644		1907	4131	6038	-	-	-	SO:0001583	missense	0			AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1171A>G	10.37:g.8006644A>G	ENSP00000340271:p.Ile391Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.I391V	ENST00000344293.5	37	c.1171	CCDS41487.1	10	.	.	.	.	.	.	.	.	.	.	A	14.05	2.419932	0.42918	.	.	ENSG00000165632	ENST00000344293	T	0.29397	1.57	5.4	4.23	0.50019	.	0.256194	0.31897	N	0.006891	T	0.36248	0.0960	M	0.81497	2.545	0.58432	D	0.999997	P	0.47302	0.893	B	0.41946	0.371	T	0.21449	-1.0245	10	0.30854	T	0.27	-17.313	11.4789	0.50314	0.8652:0.0:0.0:0.1348	.	391	Q5VWG9	TAF3_HUMAN	V	391	ENSP00000340271:I391V	ENSP00000340271:I391V	I	+	1	0	TAF3	8046650	1.000000	0.71417	0.233000	0.24025	0.436000	0.31835	8.730000	0.91510	0.841000	0.35020	0.528000	0.53228	ATC	TAF3	-	NULL	ENSG00000165632		0.468	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF3	HGNC	protein_coding	OTTHUMT00000046725.1	23	0.00	0	A	NM_031923		8006644	8006644	+1	no_errors	ENST00000344293	ensembl	human	known	69_37n	missense	30	36.17	17	SNP	0.936	G
SCTR	6344	genome.wustl.edu	37	2	120194728	120194729	+	IGR	INS	-	-	T	rs374331367|rs567745556	byFrequency	TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr2:120194728_120194729insT	ENST00000019103.5	-	0	1865				TMEM37_ENST00000306406.4_Frame_Shift_Ins_p.A96fs|TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000409826.1_Frame_Shift_Ins_p.A108fs	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GCAGCGTGGGCGCCTTGGCCGT	0.624																																						dbGAP											0																																										-	-	-	SO:0001628	intergenic_variant	0				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194728_120194729insT		Somatic		WXS	Illumina GAIIx	Phase_IV	Q12961|Q13213|Q53T00	Frame_Shift_Ins	INS	NULL	p.A95fs	ENST00000019103.5	37	c.285_286	CCDS2127.1	2																																																																																			TMEM37	-	NULL	ENSG00000171227		0.624	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM37	HGNC	protein_coding	OTTHUMT00000254198.2	37	0.00	0	-			120194728	120194729	+1	no_errors	ENST00000306406	ensembl	human	known	69_37n	frame_shift_ins	20	13.04	3	INS	0.000:0.006	T
TP53	7157	genome.wustl.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr17:7578413C>G	ENST00000269305.4	-	5	706	c.517G>C	c.(517-519)Gtg>Ctg	p.V173L	TP53_ENST00000420246.2_Missense_Mutation_p.V173L|TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGCGCCTCACAACCTCCGTC	0.662		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	159	Substitution - Missense(133)|Deletion - Frameshift(12)|Whole gene deletion(8)|Deletion - In frame(5)|Insertion - Frameshift(1)	upper_aerodigestive_tract(29)|large_intestine(25)|lung(17)|stomach(16)|ovary(14)|breast(11)|oesophagus(9)|central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|bone(5)|liver(4)|vulva(3)|soft_tissue(2)|kidney(1)|biliary_tract(1)|urinary_tract(1)|pancreas(1)|autonomic_ganglia(1)	GRCh37	CM070299	TP53	M							51.0	51.0	51.0					17																	7578413		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.517G>C	17.37:g.7578413C>G	ENSP00000269305:p.Val173Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.V173L	ENST00000269305.4	37	c.517	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	25.9	4.680628	0.88542	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99846	-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13;-7.13	5.59	5.59	0.84812	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	M	0.92459	3.31	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.987;0.996;1.0;0.979;0.989;1.0	D;D;D;D;D;D;D	0.91635	0.998;0.922;0.957;0.999;0.916;0.953;0.998	D	0.96814	0.9599	10	0.87932	D	0	-25.5548	17.4784	0.87667	0.0:1.0:0.0:0.0	.	134;173;173;80;173;173;173	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	173;173;173;173;173;173;162;80;41;80;41	ENSP00000410739:V173L;ENSP00000352610:V173L;ENSP00000269305:V173L;ENSP00000398846:V173L;ENSP00000391127:V173L;ENSP00000391478:V173L;ENSP00000425104:V41L;ENSP00000423862:V80L	ENSP00000269305:V173L	V	-	1	0	TP53	7519138	1.000000	0.71417	0.150000	0.22450	0.458000	0.32498	7.775000	0.85489	2.804000	0.96469	0.655000	0.94253	GTG	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.662	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	48	0.00	0	C	NM_000546		7578413	7578413	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	36	55.56	45	SNP	0.996	G
TTN	7273	genome.wustl.edu	37	2	179545856	179545856	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr2:179545856A>G	ENST00000591111.1	-	136	32563	c.32339T>C	c.(32338-32340)aTt>aCt	p.I10780T	TTN_ENST00000342992.6_Missense_Mutation_p.I9853T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.I11097T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000431752.1_RNA			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)			GGTAATTGAAATACGTATTTT	0.333																																						dbGAP											0													86.0	81.0	82.0					2																	179545856		1800	4069	5869	-	-	-	SO:0001583	missense	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.32339T>C	2.37:g.179545856A>G	ENSP00000465570:p.Ile10780Thr	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	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.I9853T	ENST00000591111.1	37	c.29558		2	.	.	.	.	.	.	.	.	.	.	A	14.80	2.644656	0.47258	.	.	ENSG00000155657	ENST00000342992	T	0.73897	-0.79	5.92	5.92	0.95590	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.66992	0.2846	N	0.14661	0.345	0.80722	D	1	P	0.42078	0.77	P	0.45377	0.478	T	0.73081	-0.4095	9	0.87932	D	0	.	16.3782	0.83418	1.0:0.0:0.0:0.0	.	10780	Q8WZ42	TITIN_HUMAN	T	9853	ENSP00000343764:I9853T	ENSP00000343764:I9853T	I	-	2	0	TTN	179254101	0.007000	0.16637	0.996000	0.52242	0.983000	0.72400	1.525000	0.35953	2.277000	0.76020	0.528000	0.53228	ATT	TTN	-	pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom	ENSG00000155657		0.333	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	38	0.00	0	A	NM_133378		179545856	179545856	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	51	36.25	29	SNP	1.000	G
ZZEF1	23140	genome.wustl.edu	37	17	3992057	3992057	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FD-01A-11W-A14Q-09	TCGA-BH-A1FD-11B-21D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b372b5cd-4c38-4cd3-95e0-8708ce5437e7	34eb56b6-eb28-46ca-a5f4-e61a14447e5d	g.chr17:3992057C>T	ENST00000381638.2	-	13	2280	c.2156G>A	c.(2155-2157)tGc>tAc	p.C719Y	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	719							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTCCTTTCTGCAGTGTGCACA	0.587																																						dbGAP											0													163.0	115.0	131.0					17																	3992057		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.2156G>A	17.37:g.3992057C>T	ENSP00000371051:p.Cys719Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.C719Y	ENST00000381638.2	37	c.2156	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211746	0.39102	.	.	ENSG00000074755	ENST00000381638	T	0.21031	2.03	6.01	6.01	0.97437	.	0.146564	0.64402	D	0.000006	T	0.16257	0.0391	N	0.24115	0.695	0.41356	D	0.987396	P;P	0.48694	0.839;0.914	B;B	0.40982	0.312;0.345	T	0.01124	-1.1444	10	0.72032	D	0.01	-14.6819	13.3441	0.60561	0.0:0.9277:0.0:0.0723	.	719;719	O43149-3;O43149	.;ZZEF1_HUMAN	Y	719	ENSP00000371051:C719Y	ENSP00000371051:C719Y	C	-	2	0	ZZEF1	3938806	1.000000	0.71417	1.000000	0.80357	0.346000	0.29079	4.005000	0.57075	2.861000	0.98227	0.650000	0.86243	TGC	ZZEF1	-	NULL	ENSG00000074755		0.587	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	75	0.00	0	C	NM_015113		3992057	3992057	-1	no_errors	ENST00000381638	ensembl	human	known	69_37n	missense	72	16.28	14	SNP	1.000	T
