#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
AASS	10157	genome.wustl.edu	37	7	121756793	121756793	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr7:121756793G>A	ENST00000393376.1	-	7	883	c.788C>T	c.(787-789)aCg>aTg	p.T263M	AASS_ENST00000417368.2_Missense_Mutation_p.T263M|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	263	Lysine-ketoglutarate reductase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.T263M(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						ACTTAACACCGTCCCATACAC	0.353																																						dbGAP											1	Substitution - Missense(1)	breast(1)											69.0	63.0	65.0					7																	121756793		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.788C>T	7.37:g.121756793G>A	ENSP00000377040:p.Thr263Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O95462	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N	p.T263M	ENST00000393376.1	37	c.788	CCDS5783.1	7	.	.	.	.	.	.	.	.	.	.	G	25.5	4.646779	0.87958	.	.	ENSG00000008311	ENST00000393376;ENST00000417368	D;D	0.82893	-1.66;-1.66	5.82	5.82	0.92795	Alanine dehydrogenase/PNT, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91922	0.7442	M	0.80847	2.515	0.80722	D	1	D	0.89917	1.0	D	0.75484	0.986	D	0.92029	0.5632	10	0.72032	D	0.01	-19.3849	20.0953	0.97838	0.0:0.0:1.0:0.0	.	263	Q9UDR5	AASS_HUMAN	M	263	ENSP00000377040:T263M;ENSP00000403768:T263M	ENSP00000351834:T263M	T	-	2	0	AASS	121544029	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	9.869000	0.99810	2.767000	0.95098	0.655000	0.94253	ACG	AASS	-	pfam_AlaDH/PNT_NAD(H)-bd	ENSG00000008311		0.353	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AASS	HGNC	protein_coding	OTTHUMT00000347300.1	58	0.00	0	G	NM_005763		121756793	121756793	-1	no_errors	ENST00000393376	ensembl	human	known	69_37n	missense	92	17.12	19	SNP	1.000	A
ANKZF1	55139	genome.wustl.edu	37	2	220100548	220100548	+	Missense_Mutation	SNP	G	G	A	rs540477795	byFrequency	TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr2:220100548G>A	ENST00000323348.5	+	12	2096	c.1922G>A	c.(1921-1923)cGt>cAt	p.R641H	GLB1L_ENST00000497855.1_5'Flank|ANKZF1_ENST00000409849.1_Missense_Mutation_p.R431H|ANKZF1_ENST00000410034.3_Missense_Mutation_p.R641H	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	641						membrane (GO:0016020)	metal ion binding (GO:0046872)	p.R641H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGAGGAGCGTGAACGAGAA	0.612													g|||	4	0.000798722	0.0	0.0	5008	,	,		19554	0.0		0.0	False		,,,				2504	0.0041					dbGAP											1	Substitution - Missense(1)	breast(1)											99.0	115.0	109.0					2																	220100548		2181	4275	6456	-	-	-	SO:0001583	missense	0			AF364318	CCDS42821.1, CCDS63129.1	2q35	2013-01-10			ENSG00000163516	ENSG00000163516		"""Zinc fingers, C2H2-type"", ""Ankyrin repeat domain containing"""	25527	protein-coding gene	gene with protein product						12477932	Standard	NM_018089		Approved	FLJ10415, ZNF744	uc002vkg.3	Q9H8Y5	OTTHUMG00000154533	ENST00000323348.5:c.1922G>A	2.37:g.220100548G>A	ENSP00000321617:p.Arg641His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NVZ4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R641H	ENST00000323348.5	37	c.1922	CCDS42821.1	2	.	.	.	.	.	.	.	.	.	.	G	5.219	0.225948	0.09916	.	.	ENSG00000163516	ENST00000323348;ENST00000409849;ENST00000410034	D;D;D	0.94576	-3.46;-3.46;-3.46	5.31	-1.73	0.08081	.	0.972008	0.08515	N	0.934414	D	0.88683	0.6503	N	0.21448	0.665	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.75218	-0.3395	10	0.41790	T	0.15	-0.9032	11.3067	0.49340	0.7521:0.0:0.2479:0.0	.	641	Q9H8Y5	ANKZ1_HUMAN	H	641;431;641	ENSP00000321617:R641H;ENSP00000386815:R431H;ENSP00000386337:R641H	ENSP00000321617:R641H	R	+	2	0	ANKZF1	219808792	0.004000	0.15560	0.001000	0.08648	0.014000	0.08584	-0.140000	0.10342	-0.453000	0.07076	-0.136000	0.14681	CGT	ANKZF1	-	NULL	ENSG00000163516		0.612	ANKZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKZF1	HGNC	protein_coding	OTTHUMT00000335790.1	170	0.00	0	G	NM_018089		220100548	220100548	+1	no_errors	ENST00000323348	ensembl	human	known	69_37n	missense	79	11.11	10	SNP	0.015	A
ARMC7	79637	genome.wustl.edu	37	17	73106586	73106586	+	Silent	SNP	C	C	T			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr17:73106586C>T	ENST00000245543.1	+	2	422	c.120C>T	c.(118-120)ctC>ctT	p.L40L	ARMC7_ENST00000584947.1_Silent_p.L40L|ARMC7_ENST00000582136.1_Silent_p.L40L|ARMC7_ENST00000581078.1_Silent_p.L40L	NM_024585.2	NP_078861.1	Q9H6L4	ARMC7_HUMAN	armadillo repeat containing 7	40						cytoplasm (GO:0005737)		p.L40L(1)|p.A38_A41del(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			TCGCCAACCTCGCCAACTTCG	0.607																																						dbGAP											2	Substitution - coding silent(1)|Deletion - In frame(1)	breast(1)|pancreas(1)											92.0	86.0	88.0					17																	73106586		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK025813	CCDS11714.1	17q25	2013-02-14				ENSG00000125449		"""Armadillo repeat containing"""	26168	protein-coding gene	gene with protein product						12477932	Standard	NM_024585		Approved	FLJ22160	uc002jmw.1	Q9H6L4		ENST00000245543.1:c.120C>T	17.37:g.73106586C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DVA4	Silent	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo	p.L40	ENST00000245543.1	37	c.120	CCDS11714.1	17																																																																																			ARMC7	-	superfamily_ARM-type_fold	ENSG00000125449		0.607	ARMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC7	HGNC	protein_coding	OTTHUMT00000445846.1	94	0.00	0	C	NM_024585		73106586	73106586	+1	no_errors	ENST00000245543	ensembl	human	known	69_37n	silent	60	16.67	12	SNP	0.996	T
CEP104	9731	genome.wustl.edu	37	1	3750452	3750452	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr1:3750452G>A	ENST00000378230.3	-	12	1957	c.1633C>T	c.(1633-1635)Cgc>Tgc	p.R545C	CEP104_ENST00000460038.1_5'UTR	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	545						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)	p.R545C(1)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GCTGTGACGCGGAGGCGGGCA	0.443																																						dbGAP											1	Substitution - Missense(1)	breast(1)											111.0	109.0	110.0					1																	3750452		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1633C>T	1.37:g.3750452G>A	ENSP00000367476:p.Arg545Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	superfamily_Galactose-bd-like,superfamily_ARM-type_fold	p.R545C	ENST00000378230.3	37	c.1633	CCDS30571.1	1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.621020	0.46736	.	.	ENSG00000116198	ENST00000378230	T	0.75821	-0.97	5.03	5.03	0.67393	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85592	0.5732	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.87083	0.2167	10	0.66056	D	0.02	.	12.4703	0.55783	0.0:0.0:0.8328:0.1672	.	545;545	O60308-3;O60308	.;CE104_HUMAN	C	545	ENSP00000367476:R545C	ENSP00000367476:R545C	R	-	1	0	CEP104	3740312	1.000000	0.71417	0.040000	0.18447	0.279000	0.26890	5.279000	0.65597	2.329000	0.79093	0.467000	0.42956	CGC	CEP104	-	superfamily_ARM-type_fold	ENSG00000116198		0.443	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP104	HGNC	protein_coding	OTTHUMT00000009747.3	110	0.00	0	G	NM_014704		3750452	3750452	-1	no_errors	ENST00000378230	ensembl	human	known	69_37n	missense	93	27.91	36	SNP	0.945	A
MT-ND1	4535	genome.wustl.edu	37	M	1461	1461	+	5'Flank	SNP	A	A	G			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chrM:1461A>G	ENST00000361390.2	+	0	0				MT-RNR1_ENST00000389680.2_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TM_ENST00000387377.1_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						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)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GCTTAGTTGAACAGGGCCCTG	0.453																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.1461A>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	C0JKH6|Q37523	RNA	SNP	-	NULL	ENST00000361390.2	37	NULL		MT																																																																																			J01415.24	-	-	ENSG00000211459		0.453	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000211459	Clone_based_ensembl_gene	protein_coding		15	0.00	0	A	YP_003024026		1461	1461	+1	no_errors	ENST00000389680	ensembl	human	known	69_37n	rna	3	40.00	2	SNP	NULL	G
FAM47B	170062	genome.wustl.edu	37	X	34961961	34961961	+	Missense_Mutation	SNP	C	C	G			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chrX:34961961C>G	ENST00000329357.5	+	1	1049	c.1013C>G	c.(1012-1014)aCt>aGt	p.T338S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	338								p.T338S(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCTCCCAACACTCATCGGGTG	0.587																																						dbGAP											1	Substitution - Missense(1)	breast(1)											53.0	51.0	52.0					X																	34961961		2202	4300	6502	-	-	-	SO:0001583	missense	0			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1013C>G	X.37:g.34961961C>G	ENSP00000328307:p.Thr338Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5JQN5|Q6PIG3	Missense_Mutation	SNP	NULL	p.T338S	ENST00000329357.5	37	c.1013	CCDS14236.1	X	.	.	.	.	.	.	.	.	.	.	C	8.806	0.934146	0.18206	.	.	ENSG00000189132	ENST00000329357	T	0.18174	2.23	0.235	0.235	0.15431	.	.	.	.	.	T	0.16685	0.0401	L	0.43923	1.385	0.21020	N	0.999805	P	0.51653	0.947	P	0.49421	0.61	T	0.21211	-1.0252	9	0.19590	T	0.45	.	6.1977	0.20559	0.0:0.9996:0.0:3.0E-4	.	338	Q8NA70	FA47B_HUMAN	S	338	ENSP00000328307:T338S	ENSP00000328307:T338S	T	+	2	0	FAM47B	34871882	0.219000	0.23619	0.034000	0.17996	0.034000	0.12701	0.857000	0.27831	0.288000	0.22398	0.292000	0.19580	ACT	FAM47B	-	NULL	ENSG00000189132		0.587	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	87	0.00	0	C	NM_152631		34961961	34961961	+1	no_errors	ENST00000329357	ensembl	human	known	69_37n	missense	67	28.72	27	SNP	0.712	G
IL2RG	3561	genome.wustl.edu	37	X	70330750	70330750	+	Missense_Mutation	SNP	T	T	A			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chrX:70330750T>A	ENST00000374202.2	-	2	357	c.266A>T	c.(265-267)tAt>tTt	p.Y89F	IL2RG_ENST00000456850.2_Intron|IL2RG_ENST00000374188.3_5'Flank	NM_000206.2	NP_000197.1	P31785	IL2RG_HUMAN	interleukin 2 receptor, gamma	89			Y -> C (in XSCID).		immune response (GO:0006955)|interleukin-2-mediated signaling pathway (GO:0038110)|interleukin-4-mediated signaling pathway (GO:0035771)|interleukin-7-mediated signaling pathway (GO:0038111)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cytokine receptor activity (GO:0004896)|interleukin-2 binding (GO:0019976)	p.Y89F(2)		breast(1)|endometrium(3)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	15	Renal(35;0.156)				Aldesleukin(DB00041)|Denileukin diftitox(DB00004)	CTCATACCAATAATGCAGAGT	0.522									Severe Combined Immunodeficiency, X-linked																													dbGAP											2	Substitution - Missense(2)	breast(2)	GRCh37	CM930431	IL2RG	M							57.0	43.0	48.0					X																	70330750		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Agammaglobulinemia, Swiss Type	D11086	CCDS14406.1	Xq13	2014-09-17	2010-06-24		ENSG00000147168	ENSG00000147168		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6010	protein-coding gene	gene with protein product		308380	"""severe combined immunodeficiency"", ""combined immunodeficiency, X-linked"""	SCIDX1, IMD4, CIDX		1631559, 7883965	Standard	NM_000206		Approved	CD132	uc004dyw.2	P31785	OTTHUMG00000021787	ENST00000374202.2:c.266A>T	X.37:g.70330750T>A	ENSP00000363318:p.Tyr89Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5FC12	Missense_Mutation	SNP	pfam_IL6_recept-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.Y89F	ENST00000374202.2	37	c.266	CCDS14406.1	X	.	.	.	.	.	.	.	.	.	.	T	17.79	3.475455	0.63737	.	.	ENSG00000147168	ENST00000374202;ENST00000374191;ENST00000464642;ENST00000487883;ENST00000473378	D;D;D;D	0.95756	-3.8;-3.8;-3.8;-3.8	5.43	5.43	0.79202	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.418777	0.26582	N	0.023580	D	0.97142	0.9066	M	0.80422	2.495	0.80722	D	1	D	0.69078	0.997	D	0.65684	0.937	D	0.96835	0.9614	10	0.44086	T	0.13	.	12.1388	0.53986	0.0:0.0:0.0:1.0	.	89	P31785	IL2RG_HUMAN	F	89;89;45;77;68	ENSP00000363318:Y89F;ENSP00000425233:Y45F;ENSP00000423966:Y77F;ENSP00000423601:Y68F	ENSP00000363306:Y89F	Y	-	2	0	IL2RG	70247475	1.000000	0.71417	0.034000	0.17996	0.578000	0.36192	4.166000	0.58203	2.006000	0.58801	0.486000	0.48141	TAT	IL2RG	-	pfam_IL6_recept-bd,superfamily_Fibronectin_type3	ENSG00000147168		0.522	IL2RG-004	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RG	HGNC	protein_coding	OTTHUMT00000057102.2	120	0.00	0	T			70330750	70330750	-1	no_errors	ENST00000374202	ensembl	human	known	69_37n	missense	114	29.19	47	SNP	0.426	A
LCT	3938	genome.wustl.edu	37	2	136561583	136561583	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr2:136561583C>T	ENST00000264162.2	-	11	4590	c.4580G>A	c.(4579-4581)gGa>gAa	p.G1527E		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1527	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.G1527E(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	CACCTTGTCTCCCAGCCTCTG	0.542																																						dbGAP											1	Substitution - Missense(1)	breast(1)											145.0	114.0	125.0					2																	136561583		2203	4300	6503	-	-	-	SO:0001583	missense	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4580G>A	2.37:g.136561583C>T	ENSP00000264162:p.Gly1527Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.G1527E	ENST00000264162.2	37	c.4580	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.221769	0.95139	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.61510	0.1	5.78	5.78	0.91487	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86188	0.5873	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.90724	0.4637	10	0.87932	D	0	-24.4752	20.0124	0.97464	0.0:1.0:0.0:0.0	.	1527	P09848	LPH_HUMAN	E	1527;959	ENSP00000264162:G1527E	ENSP00000264162:G1527E	G	-	2	0	LCT	136278053	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.818000	0.86416	2.749000	0.94314	0.655000	0.94253	GGA	LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000115850		0.542	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	128	0.00	0	C	NM_002299		136561583	136561583	-1	no_errors	ENST00000264162	ensembl	human	known	69_37n	missense	144	14.29	24	SNP	1.000	T
LRRC7	57554	genome.wustl.edu	37	1	70505012	70505012	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr1:70505012G>T	ENST00000035383.5	+	19	3421	c.3391G>T	c.(3391-3393)Gtc>Ttc	p.V1131F	LRRC7_ENST00000310961.5_Missense_Mutation_p.V1136F|LRRC7_ENST00000415775.2_Missense_Mutation_p.V415F	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1131						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.V1131F(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GTTTAGAAGGGTCAATGAGCC	0.592																																						dbGAP											1	Substitution - Missense(1)	breast(1)											76.0	79.0	78.0					1																	70505012		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3391G>T	1.37:g.70505012G>T	ENSP00000035383:p.Val1131Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.V1131F	ENST00000035383.5	37	c.3391	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	G	13.05	2.120067	0.37436	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.40756	1.02;1.1;2.2	5.84	5.84	0.93424	.	0.129984	0.51477	D	0.000089	T	0.52256	0.1723	L	0.50333	1.59	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.83275	0.984;0.996;0.994	T	0.31696	-0.9934	10	0.31617	T	0.26	.	19.1417	0.93448	0.0:0.0:1.0:0.0	.	415;1131;1131	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	F	1136;1131;415;954	ENSP00000309245:V1136F;ENSP00000035383:V1131F;ENSP00000394867:V415F	ENSP00000035383:V1131F	V	+	1	0	LRRC7	70277600	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	7.561000	0.82288	2.764000	0.94973	0.650000	0.86243	GTC	LRRC7	-	NULL	ENSG00000033122		0.592	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	45	0.00	0	G	NM_020794		70505012	70505012	+1	no_errors	ENST00000035383	ensembl	human	known	69_37n	missense	21	25.00	7	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151859457	151859457	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr7:151859457delT	ENST00000262189.6	-	43	11423	c.11205delA	c.(11203-11205)aaafs	p.K3735fs	KMT2C_ENST00000355193.2_Frame_Shift_Del_p.K3735fs	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3735					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										GTTCCTCCAATTTAGGCTCCT	0.527																																						dbGAP											0													146.0	149.0	148.0					7																	151859457		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11205delA	7.37:g.151859457delT	ENSP00000262189:p.Lys3735fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Frame_Shift_Del	DEL	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.K3735fs	ENST00000262189.6	37	c.11205	CCDS5931.1	7																																																																																			MLL3	-	NULL	ENSG00000055609		0.527	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	97	0.00	0	T			151859457	151859457	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	frame_shift_del	167	15.69	32	DEL	0.000	-
MSX2	4488	genome.wustl.edu	37	5	174156285	174156285	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr5:174156285C>T	ENST00000239243.6	+	2	630	c.503C>T	c.(502-504)tCc>tTc	p.S168F	MSX2_ENST00000507785.1_3'UTR	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	168					activation of meiosis (GO:0090427)|anagen (GO:0042640)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone trabecula formation (GO:0060346)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|chondrocyte development (GO:0002063)|cranial suture morphogenesis (GO:0060363)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|enamel mineralization (GO:0070166)|endochondral bone growth (GO:0003416)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|frontal suture morphogenesis (GO:0060364)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of CREB transcription factor activity (GO:0032792)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of catagen (GO:0051795)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|positive regulation of osteoblast differentiation (GO:0045669)|signal transduction involved in regulation of gene expression (GO:0023019)|wound healing, spreading of epidermal cells (GO:0035313)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)	p.S168F(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGTACCTCTCCATTGCAGAG	0.562																																						dbGAP											1	Substitution - Missense(1)	breast(1)											66.0	62.0	63.0					5																	174156285		2203	4300	6503	-	-	-	SO:0001583	missense	0			D26145	CCDS4392.1	5q35.2	2011-06-20	2006-11-21		ENSG00000120149	ENSG00000120149		"""Homeoboxes / ANTP class : NKL subclass"""	7392	protein-coding gene	gene with protein product	"""craniosynostosis, type 2"""	123101	"""msh (Drosophila) homeo box homolog 2"", ""parietal foramina 1"", ""msh homeobox homolog 2 (Drosophila)"""	PFM1		8668339, 8786091	Standard	XM_006714868		Approved	CRS2, FPP, HOX8, MSH, PFM	uc003mcy.3	P35548	OTTHUMG00000130556	ENST00000239243.6:c.503C>T	5.37:g.174156285C>T	ENSP00000239243:p.Ser168Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQN1|Q53XM4|Q9UD60	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S168F	ENST00000239243.6	37	c.503	CCDS4392.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.144187	0.94603	.	.	ENSG00000120149	ENST00000239243	D	0.96554	-4.05	5.72	5.72	0.89469	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98924	0.9635	H	0.96833	3.89	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99271	1.0893	10	0.87932	D	0	-28.1079	19.8548	0.96752	0.0:1.0:0.0:0.0	.	168	P35548	MSX2_HUMAN	F	168	ENSP00000239243:S168F	ENSP00000239243:S168F	S	+	2	0	MSX2	174088891	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.770000	0.85390	2.702000	0.92279	0.591000	0.81541	TCC	MSX2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	ENSG00000120149		0.562	MSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSX2	HGNC	protein_coding	OTTHUMT00000252981.3	89	0.00	0	C			174156285	174156285	+1	no_errors	ENST00000239243	ensembl	human	known	69_37n	missense	45	23.73	14	SNP	1.000	T
MTUS2	23281	genome.wustl.edu	37	13	29933490	29933490	+	Silent	SNP	G	G	A			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr13:29933490G>A	ENST00000431530.3	+	6	3085	c.3027G>A	c.(3025-3027)ctG>ctA	p.L1009L		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	999	Localization to the growing distal tip of microtubules.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)	p.L1009L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AGCTGGTGCTGCGGCTGAAGG	0.652																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											14.0	17.0	16.0					13																	29933490		2036	4187	6223	-	-	-	SO:0001819	synonymous_variant	0			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.3027G>A	13.37:g.29933490G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Silent	SNP	NULL	p.L1009	ENST00000431530.3	37	c.3027	CCDS45022.1	13																																																																																			MTUS2	-	NULL	ENSG00000132938		0.652	MTUS2-002	KNOWN	basic|CCDS	protein_coding	MTUS2	HGNC	protein_coding	OTTHUMT00000044336.3	35	0.00	0	G	XM_166270		29933490	29933490	+1	no_errors	ENST00000431530	ensembl	human	known	69_37n	silent	19	34.48	10	SNP	0.998	A
MUC4	4585	genome.wustl.edu	37	3	195489057	195489057	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr3:195489057C>A	ENST00000346145.4	-	13	1744	c.1705G>T	c.(1705-1707)Gac>Tac	p.D569Y	MUC4_ENST00000475231.1_Missense_Mutation_p.D4753Y|MUC4_ENST00000349607.4_Missense_Mutation_p.D518Y|MUC4_ENST00000463781.3_Missense_Mutation_p.D4805Y	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1562					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCCCAGCCGTCGAAGCTGGCC	0.692																																						dbGAP											0													29.0	25.0	27.0					3																	195489057		2193	4299	6492	-	-	-	SO:0001583	missense	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.1705G>T	3.37:g.195489057C>A	ENSP00000304207:p.Asp569Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.D4805Y	ENST00000346145.4	37	c.14413	CCDS3310.1	3	.	.	.	.	.	.	.	.	.	.	.	11.51	1.658752	0.29515	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231	T;T;T;T	0.59772	0.24;0.24;0.24;0.24	4.93	4.05	0.47172	.	0.000000	0.56097	D	0.000027	T	0.72914	0.3520	M	0.78637	2.42	0.23120	N	0.998261	D;D;D;D;D;P	0.89917	1.0;0.959;0.959;1.0;1.0;0.872	D;P;P;D;D;P	0.97110	1.0;0.615;0.615;0.997;0.997;0.643	T	0.63134	-0.6705	10	0.52906	T	0.07	-18.2039	10.1024	0.42513	0.0:0.9077:0.0:0.0923	.	4677;518;569;4805;4753;1510	E7ESK3;Q99102-12;Q99102-13;E9PDY6;E7ENC5;Q99102-10	.;.;.;.;.;.	Y	518;569;4805;4753	ENSP00000338109:D518Y;ENSP00000304207:D569Y;ENSP00000417498:D4805Y;ENSP00000420243:D4753Y	ENSP00000304207:D569Y	D	-	1	0	MUC4	196974728	0.076000	0.21285	0.741000	0.31004	0.178000	0.23041	2.021000	0.41020	2.291000	0.77112	0.555000	0.69702	GAC	MUC4	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000145113		0.692	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	29	0.00	0	C	NM_018406		195489057	195489057	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	missense	32	15.79	6	SNP	0.395	A
MYH8	4626	genome.wustl.edu	37	17	10318470	10318470	+	Silent	SNP	A	A	G			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr17:10318470A>G	ENST00000403437.2	-	9	862	c.768T>C	c.(766-768)ggT>ggC	p.G256G	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	256	Myosin motor.				ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)	p.G256G(1)		NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCCCTGTAGTACCAAAGTGGA	0.343									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													dbGAP											1	Substitution - coding silent(1)	breast(1)											138.0	147.0	144.0					17																	10318470		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.768T>C	17.37:g.10318470A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q14910	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.G256	ENST00000403437.2	37	c.768	CCDS11153.1	17																																																																																			MYH8	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000133020		0.343	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH8	HGNC	protein_coding	OTTHUMT00000252724.2	114	0.00	0	A	NM_002472		10318470	10318470	-1	no_errors	ENST00000403437	ensembl	human	known	69_37n	silent	126	29.83	54	SNP	0.725	G
MYO7A	4647	genome.wustl.edu	37	11	76900501	76900501	+	Missense_Mutation	SNP	G	G	A	rs201729482		TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr11:76900501G>A	ENST00000409709.3	+	28	3888	c.3616G>A	c.(3616-3618)Gag>Aag	p.E1206K	MYO7A_ENST00000458637.2_Missense_Mutation_p.E1206K|MYO7A_ENST00000409619.2_Missense_Mutation_p.E1195K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1206	MyTH4 1. {ECO:0000255|PROSITE- ProRule:PRU00359}.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.E1206K(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CGCCCCCTCCGAGAAGTTTGT	0.622																																						dbGAP											1	Substitution - Missense(1)	breast(1)											93.0	99.0	97.0					11																	76900501		1977	4154	6131	-	-	-	SO:0001583	missense	0			U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.3616G>A	11.37:g.76900501G>A	ENSP00000386331:p.Glu1206Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.E1206K	ENST00000409709.3	37	c.3616	CCDS53683.1	11	.	.	.	.	.	.	.	.	.	.	.	24.8	4.569612	0.86439	.	.	ENSG00000137474	ENST00000409709;ENST00000458637;ENST00000409619;ENST00000545136;ENST00000358342;ENST00000343356;ENST00000341717;ENST00000458169	D;D;D;D	0.91996	-2.95;-2.95;-2.95;-2.95	5.43	5.43	0.79202	MyTH4 domain (3);	0.058533	0.64402	D	0.000002	D	0.92625	0.7657	L	0.33753	1.03	0.80722	D	1	D;D;P	0.63046	0.957;0.992;0.926	P;P;P	0.56700	0.804;0.796;0.732	D	0.93186	0.6579	10	0.59425	D	0.04	.	19.2615	0.93970	0.0:0.0:1.0:0.0	.	1195;1206;1206	B9A011;F8VUN5;Q13402	.;.;MYO7A_HUMAN	K	1206;1206;1195;417;1205;1175;1082;387	ENSP00000386331:E1206K;ENSP00000392185:E1206K;ENSP00000386635:E1195K;ENSP00000417017:E387K	ENSP00000345075:E1082K	E	+	1	0	MYO7A	76578149	1.000000	0.71417	0.954000	0.39281	0.971000	0.66376	9.476000	0.97823	2.546000	0.85860	0.643000	0.83706	GAG	MYO7A	-	pfam_MyTH4_dom,smart_MyTH4_dom,pfscan_MyTH4_dom	ENSG00000137474		0.622	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	MYO7A	HGNC	protein_coding	OTTHUMT00000328133.1	146	0.00	0	G	NM_000260		76900501	76900501	+1	no_errors	ENST00000409709	ensembl	human	known	69_37n	missense	93	18.42	21	SNP	1.000	A
NLRC4	58484	genome.wustl.edu	37	2	32475353	32475353	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr2:32475353G>A	ENST00000404025.2	-	5	2068	c.1580C>T	c.(1579-1581)cCt>cTt	p.P527L	NLRC4_ENST00000402280.1_Missense_Mutation_p.P527L|NLRC4_ENST00000360906.5_Missense_Mutation_p.P527L|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	527					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)	p.P527L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCTCCAGAGAGGCCTCTTGGC	0.488																																						dbGAP											1	Substitution - Missense(1)	breast(1)											101.0	97.0	98.0					2																	32475353		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.1580C>T	2.37:g.32475353G>A	ENSP00000385090:p.Pro527Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD	p.P527L	ENST00000404025.2	37	c.1580	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	G	1.567	-0.535270	0.04082	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000404025	T;T;T	0.55052	0.54;0.54;0.54	2.82	1.93	0.25924	.	0.216554	0.23577	N	0.046682	T	0.30262	0.0759	L	0.27053	0.805	0.32831	D	0.504008	B	0.11235	0.004	B	0.08055	0.003	T	0.19484	-1.0304	9	0.11794	T	0.64	.	4.8653	0.13606	0.2869:0.0:0.7131:0.0	.	527	Q9NPP4	NLRC4_HUMAN	L	527	ENSP00000354159:P527L;ENSP00000385428:P527L;ENSP00000385090:P527L	ENSP00000354159:P527L	P	-	2	0	NLRC4	32328857	0.903000	0.30736	0.728000	0.30774	0.007000	0.05969	2.248000	0.43160	0.785000	0.33685	-0.300000	0.09419	CCT	NLRC4	-	NULL	ENSG00000091106		0.488	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	129	0.00	0	G	NM_021209		32475353	32475353	-1	no_errors	ENST00000360906	ensembl	human	known	69_37n	missense	168	23.98	53	SNP	0.130	A
PHEX	5251	genome.wustl.edu	37	X	22231059	22231059	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chrX:22231059G>A	ENST00000379374.4	+	16	2249	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	PHEX_ENST00000418858.3_Missense_Mutation_p.G265R|PHEX_ENST00000535894.1_Missense_Mutation_p.G465R|PHEX_ENST00000537599.1_Missense_Mutation_p.G562R	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	562					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G562R(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTTCTTTTGGGGAACAGAATA	0.393																																						dbGAP											1	Substitution - Missense(1)	breast(1)											107.0	102.0	104.0					X																	22231059		2203	4300	6503	-	-	-	SO:0001583	missense	0			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1684G>A	X.37:g.22231059G>A	ENSP00000368682:p.Gly562Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.G562R	ENST00000379374.4	37	c.1684	CCDS14204.1	X	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950256	0.92660	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6	5.69	5.69	0.88448	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.051905	0.85682	D	0.000000	D	0.90508	0.7026	M	0.68952	2.095	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.90242	0.4287	10	0.49607	T	0.09	.	18.7851	0.91951	0.0:0.0:1.0:0.0	.	562;562	F5GXU4;P78562	.;PHEX_HUMAN	R	562;562;465;265	ENSP00000368682:G562R;ENSP00000440362:G562R;ENSP00000439418:G465R;ENSP00000443531:G265R	ENSP00000368682:G562R	G	+	1	0	PHEX	22140980	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.529000	0.90602	2.381000	0.81170	0.600000	0.82982	GGA	PHEX	-	pfam_Peptidase_M13_C	ENSG00000102174		0.393	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHEX	HGNC	protein_coding	OTTHUMT00000056035.1	112	0.00	0	G	NM_000444		22231059	22231059	+1	no_errors	ENST00000379374	ensembl	human	known	69_37n	missense	161	19.50	39	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	55	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	95	18.10	21	SNP	1.000	G
PLCXD2	257068	genome.wustl.edu	37	3	111439672	111439672	+	Intron	SNP	G	G	A			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr3:111439672G>A	ENST00000477665.1	+	3	1190				PLCXD2_ENST00000393934.3_Intron|PLCXD2_ENST00000472215.1_3'UTR	NM_001185106.1	NP_001172035.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2						lipid catabolic process (GO:0016042)		phosphoric diester hydrolase activity (GO:0008081)|signal transducer activity (GO:0004871)			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ACTTTGCTGCGACTGTCATCA	0.448																																						dbGAP											0													153.0	130.0	137.0					3																	111439672		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AK056141	CCDS2961.1, CCDS54619.1	3q13.2	2004-09-09			ENSG00000240891	ENSG00000240891			26462	protein-coding gene	gene with protein product							Standard	NM_001185106		Approved	FLJ31579	uc003dxz.3	Q0VAA5	OTTHUMG00000159279	ENST00000477665.1:c.866+6697G>A	3.37:g.111439672G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96N12	RNA	SNP	-	NULL	ENST00000477665.1	37	NULL	CCDS54619.1	3																																																																																			PLCXD2	-	-	ENSG00000240891		0.448	PLCXD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCXD2	HGNC	protein_coding	OTTHUMT00000354322.1	139	0.00	0	G	NM_153268		111439672	111439672	+1	no_errors	ENST00000472215	ensembl	human	putative	69_37n	rna	170	21.30	46	SNP	0.122	A
PIK3CA	5290	genome.wustl.edu	37	3	178952139	178952139	+	Missense_Mutation	SNP	A	A	T			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr3:178952139A>T	ENST00000263967.3	+	21	3351	c.3194A>T	c.(3193-3195)cAt>cTt	p.H1065L	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1065	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|H -> Y (found in brain tumors; unknown pathological significance). {ECO:0000269|PubMed:15289301}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1065L(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	ATTAAACAGCATGCATTGAAC	0.403		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	4	Substitution - Missense(4)	endometrium(4)											89.0	80.0	83.0					3																	178952139		1906	4142	6048	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3194A>T	3.37:g.178952139A>T	ENSP00000263967:p.His1065Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1065L	ENST00000263967.3	37	c.3194	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.78	2.638633	0.47153	.	.	ENSG00000121879	ENST00000263967	T	0.70986	-0.53	6.08	6.08	0.98989	Phosphatidylinositol 3-/4-kinase, catalytic (2);	0.000000	0.85682	D	0.000000	T	0.53690	0.1812	N	0.00729	-1.24	0.80722	D	1	P	0.50156	0.932	P	0.58520	0.84	T	0.63479	-0.6628	10	0.11485	T	0.65	-16.3467	15.2222	0.73320	1.0:0.0:0.0:0.0	.	1065	P42336	PK3CA_HUMAN	L	1065	ENSP00000263967:H1065L	ENSP00000263967:H1065L	H	+	2	0	PIK3CA	180434833	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.501000	0.90501	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.403	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	47	0.00	0	A			178952139	178952139	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	69	23.33	21	SNP	1.000	T
PSMD1	5707	genome.wustl.edu	37	2	231937097	231937098	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr2:231937097_231937098insA	ENST00000308696.6	+	7	1011_1012	c.849_850insA	c.(850-852)acgfs	p.T284fs	PSMD1_ENST00000373635.4_Frame_Shift_Ins_p.T284fs|PSMD1_ENST00000409643.1_Frame_Shift_Ins_p.T284fs	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	284					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GATCCACTAATACGGGTACTGT	0.396																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D44466	CCDS2482.1, CCDS54436.1	2q37.1	2008-05-22			ENSG00000173692	ENSG00000173692		"""Proteasome (prosome, macropain) subunits"""	9554	protein-coding gene	gene with protein product						8816993	Standard	NM_002807		Approved	S1, P112, Rpn2	uc002vrn.2	Q99460	OTTHUMG00000133223	ENST00000308696.6:c.850dupA	2.37:g.231937098_231937098dupA	ENSP00000309474:p.Thr284fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B8ZZH9|Q24JU0|Q53TI2|Q6GMU5|Q6P2P4|Q6PJM7|Q6PKG9|Q86VU1|Q8IV79	Frame_Shift_Ins	INS	pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	p.T283fs	ENST00000308696.6	37	c.849_850	CCDS2482.1	2																																																																																			PSMD1	-	superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2	ENSG00000173692		0.396	PSMD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD1	HGNC	protein_coding	OTTHUMT00000256958.2	153	0.00	0	-			231937097	231937098	+1	no_errors	ENST00000308696	ensembl	human	known	69_37n	frame_shift_ins	153	17.74	33	INS	0.998:1.000	A
RASA2	5922	genome.wustl.edu	37	3	141292064	141292064	+	Splice_Site	SNP	G	G	T	rs182402423		TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr3:141292064G>T	ENST00000452898.1	+	13	1394		c.e13+1		RASA2_ENST00000286364.3_Splice_Site	NM_006506.2	NP_006497.2	Q15283	RASA2_HUMAN	RAS p21 protein activator 2						intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)	p.?(2)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AAATAATAAGGTAAGTCCTTG	0.294																																						dbGAP											2	Unknown(2)	breast(2)											22.0	26.0	25.0					3																	141292064		2173	4260	6433	-	-	-	SO:0001630	splice_region_variant	0			AF115573	CCDS3117.1	3q22-q23	2013-01-10			ENSG00000155903	ENSG00000155903		"""Pleckstrin homology (PH) domain containing"""	9872	protein-coding gene	gene with protein product		601589				8699317	Standard	NM_006506		Approved	GAP1M	uc003etz.1	Q15283	OTTHUMG00000160221	ENST00000452898.1:c.1359+1G>T	3.37:g.141292064G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7K1|G3V0F9|O00695|Q15284|Q92594|Q99577|Q9UEQ2	Splice_Site	SNP	-	e13+1	ENST00000452898.1	37	c.1359+1		3	.	.	.	.	.	.	.	.	.	.	G	26.2	4.716526	0.89205	.	.	ENSG00000155903	ENST00000286364;ENST00000452898;ENST00000423660	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7503	0.96265	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RASA2	142774754	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.406000	0.97321	2.746000	0.94184	0.655000	0.94253	.	RASA2	-	-	ENSG00000155903		0.294	RASA2-201	KNOWN	basic	protein_coding	RASA2	HGNC	protein_coding		53	0.00	0	G	NM_006506	Intron	141292064	141292064	+1	no_errors	ENST00000452898	ensembl	human	known	69_37n	splice_site	40	20.00	10	SNP	1.000	T
RBM39	9584	genome.wustl.edu	37	20	34302208	34302208	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr20:34302208G>T	ENST00000253363.6	-	11	1018	c.995C>A	c.(994-996)gCt>gAt	p.A332D	RBM39_ENST00000407261.4_Missense_Mutation_p.A175D|snoU13_ENST00000459110.1_RNA|RBM39_ENST00000361162.6_Missense_Mutation_p.A332D|RBM39_ENST00000528062.3_Missense_Mutation_p.A310D			Q14498	RBM39_HUMAN	RNA binding motif protein 39	332	Activating domain. {ECO:0000250}.|Interaction with JUN. {ECO:0000250}.				mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.A332D(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					AGCACTCGAAGCATCAGTACG	0.418																																						dbGAP											1	Substitution - Missense(1)	breast(1)											159.0	131.0	140.0					20																	34302208		2203	4300	6503	-	-	-	SO:0001583	missense	0			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.995C>A	20.37:g.34302208G>T	ENSP00000253363:p.Ala332Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_CC1_SF	p.C182*	ENST00000253363.6	37	c.546	CCDS13266.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.74|15.74	2.922600|2.922600	0.52653|0.52653	.|.	.|.	ENSG00000131051|ENSG00000131051	ENST00000253363;ENST00000361162;ENST00000528062;ENST00000407261|ENST00000448303	T;T;T;T|.	0.06068|.	3.35;3.35;3.35;3.35|.	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	0.150299|.	0.64402|.	D|.	0.000014|.	T|.	0.69278|.	0.3093|.	L|L	0.48642|0.48642	1.525|1.525	0.80722|0.80722	D|D	1|1	B;B;B;P;B|.	0.36789|.	0.029;0.105;0.01;0.57;0.011|.	B;B;B;B;B|.	0.32533|.	0.01;0.046;0.022;0.147;0.017|.	T|.	0.65047|.	-0.6263|.	10|.	0.42905|.	T|.	0.14|.	.|.	18.9101|18.9101	0.92479|0.92479	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	310;310;332;332;308|.	B4DRA0;A2RRD3;Q14498-2;Q14498;B3KWX7|.	.;.;.;RBM39_HUMAN;.|.	D|X	332;332;310;175|182	ENSP00000253363:A332D;ENSP00000354437:A332D;ENSP00000436747:A310D;ENSP00000384541:A175D|.	ENSP00000253363:A332D|.	A|C	-|-	2|3	0|2	RBM39|RBM39	33765622|33765622	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	6.243000|6.243000	0.72384|0.72384	2.711000|2.711000	0.92665|0.92665	0.655000|0.655000	0.94253|0.94253	GCT|TGC	RBM39	-	tigrfam_CC1_SF	ENSG00000131051		0.418	RBM39-002	KNOWN	basic|CCDS	protein_coding	RBM39	HGNC	protein_coding	OTTHUMT00000078931.2	122	0.81	1	G	NM_184237		34302208	34302208	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000448303	ensembl	human	novel	69_37n	nonsense	139	19.54	34	SNP	1.000	T
RPLP0P2	113157	genome.wustl.edu	37	11	61405221	61405224	+	RNA	DEL	AAAG	AAAG	-	rs370986560		TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	AAAG	AAAG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr11:61405221_61405224delAAAG	ENST00000496593.1	+	0	1825_1828					NR_002775.2				ribosomal protein, large, P0 pseudogene 2																		agaaagaaacaaagaaagaaagaa	0.333																																						dbGAP											0																																										-	-	-			0			BC010523		11q12.2	2014-08-07			ENSG00000243742	ENSG00000243742		"""L ribosomal proteins"""	17960	pseudogene	pseudogene						19123937, 25089627	Standard	NR_002775		Approved		uc001nrz.1		OTTHUMG00000158396		11.37:g.61405229_61405232delAAAG		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000496593.1	37	NULL		11																																																																																			RPLP0P2	-	-	ENSG00000243742		0.333	RPLP0P2-002	KNOWN	basic	processed_transcript	RPLP0P2	HGNC	pseudogene	OTTHUMT00000350911.1	12	0.00	0	AAAG	NR_002775		61405221	61405224	+1	no_errors	ENST00000496593	ensembl	human	known	69_37n	rna	6	33.33	3	DEL	0.000:0.000:0.000:0.000	-
RUNX1	861	genome.wustl.edu	37	21	36252995	36252995	+	Frame_Shift_Del	DEL	C	C	-	rs373498347		TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr21:36252995delC	ENST00000344691.4	-	2	1863	c.286delG	c.(286-288)gatfs	p.D96fs	RUNX1_ENST00000437180.1_Frame_Shift_Del_p.D123fs|RUNX1_ENST00000358356.5_Frame_Shift_Del_p.D96fs|RUNX1_ENST00000399240.1_Frame_Shift_Del_p.D96fs|RUNX1_ENST00000300305.3_Frame_Shift_Del_p.D123fs|RUNX1_ENST00000486278.2_Frame_Shift_Del_p.D99fs|RUNX1_ENST00000325074.5_Frame_Shift_Del_p.D111fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	96	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TCTGGAACATCCCCTAGGGCC	0.463			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0			GRCh37	CM086911	RUNX1	M							96.0	82.0	87.0					21																	36252995		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.286delG	21.37:g.36252995delC	ENSP00000340690:p.Asp96fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Del	DEL	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.D123fs	ENST00000344691.4	37	c.367	CCDS42922.1	21																																																																																			RUNX1	-	pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	ENSG00000159216		0.463	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	89	0.00	0	C			36252995	36252995	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	frame_shift_del	142	17.34	30	DEL	1.000	-
SEPT7P2	641977	genome.wustl.edu	37	7	45776474	45776474	+	RNA	SNP	C	C	T	rs143565372	byFrequency	TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr7:45776474C>T	ENST00000429741.1	-	0	1128									septin 7 pseudogene 2																		TCGTAGTGGACATTATTAGTA	0.373													C|||	925	0.184704	0.3828	0.1182	5008	,	,		15237	0.1181		0.1789	False		,,,				2504	0.0389					dbGAP											0																																										-	-	-			0			AL133216		7p12.3	2010-03-24	2010-03-24	2010-03-24	ENSG00000214765	ENSG00000214765			32339	pseudogene	pseudogene		611563	"""septin 7B"", ""septin 13"""	SEPT7B, SEPT13		15915442	Standard	NR_024271		Approved	DKFZp313J1114	uc003tnf.4		OTTHUMG00000155423		7.37:g.45776474C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000429741.1	37	NULL		7																																																																																			SEPT7P2	-	-	ENSG00000214765		0.373	SEPT7P2-001	KNOWN	basic	processed_transcript	SEPT7P2	HGNC	pseudogene	OTTHUMT00000340060.1	11	0.00	0	C	NR_024271		45776474	45776474	-1	no_errors	ENST00000338231	ensembl	human	known	69_37n	rna	21	61.11	33	SNP	1.000	T
SIPA1L2	57568	genome.wustl.edu	37	1	232607134	232607134	+	Silent	SNP	G	G	C	rs141392187	byFrequency	TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr1:232607134G>C	ENST00000366630.1	-	7	2584	c.2226C>G	c.(2224-2226)acC>acG	p.T742T	SIPA1L2_ENST00000262861.4_Silent_p.T742T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	742	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.T742T(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACACATTTTCGGTACATGGAT	0.428																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											179.0	171.0	174.0					1																	232607134		2022	4219	6241	-	-	-	SO:0001819	synonymous_variant	0			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2226C>G	1.37:g.232607134G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.T742	ENST00000366630.1	37	c.2226	CCDS41474.1	1																																																																																			SIPA1L2	-	pfam_Rap_GAP,pfscan_Rap_GAP	ENSG00000116991		0.428	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	125	0.00	0	G	XM_045839		232607134	232607134	-1	no_errors	ENST00000262861	ensembl	human	known	69_37n	silent	149	29.05	61	SNP	0.001	C
SLC29A4	222962	genome.wustl.edu	37	7	5327487	5327487	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr7:5327487G>A	ENST00000396872.3	+	2	201	c.40G>A	c.(40-42)Gtg>Atg	p.V14M	SLC29A4_ENST00000297195.4_Missense_Mutation_p.V14M|SLC29A4_ENST00000406453.3_Missense_Mutation_p.V14M			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	14					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	GGAGCCCAGCGTGGCAGGCAC	0.657																																						dbGAP											0													22.0	23.0	23.0					7																	5327487		2202	4298	6500	-	-	-	SO:0001583	missense	0			AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.40G>A	7.37:g.5327487G>A	ENSP00000380081:p.Val14Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt	p.V14M	ENST00000396872.3	37	c.40	CCDS5340.1	7	.	.	.	.	.	.	.	.	.	.	G	8.096	0.775676	0.16051	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	3.91	0.695	0.18070	.	0.234251	0.34245	N	0.004138	T	0.39733	0.1089	L	0.51422	1.61	0.09310	N	1	B;B	0.26258	0.145;0.019	B;B	0.16722	0.016;0.004	T	0.36625	-0.9740	10	0.51188	T	0.08	-4.756	13.619	0.62126	0.0:0.7322:0.2678:0.0	.	14;14	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	M	14	ENSP00000406803:V14M;ENSP00000380081:V14M;ENSP00000413271:V14M;ENSP00000297195:V14M;ENSP00000385845:V14M	ENSP00000297195:V14M	V	+	1	0	SLC29A4	5294013	0.000000	0.05858	0.018000	0.16275	0.532000	0.34746	-0.352000	0.07701	0.126000	0.18424	0.491000	0.48974	GTG	SLC29A4	-	NULL	ENSG00000164638		0.657	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A4	HGNC	protein_coding	OTTHUMT00000060118.6	48	0.00	0	G	NM_153247		5327487	5327487	+1	no_errors	ENST00000297195	ensembl	human	known	69_37n	missense	29	14.71	5	SNP	0.072	A
SPEN	23013	genome.wustl.edu	37	1	16248819	16248820	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	TT	TT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr1:16248819_16248820delTT	ENST00000375759.3	+	10	2029_2030	c.1825_1826delTT	c.(1825-1827)tttfs	p.F609fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	609					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		catcagagacttttATGAAATG	0.327																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.1825_1826delTT	1.37:g.16248821_16248822delTT	ENSP00000364912:p.Phe609fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.F609fs	ENST00000375759.3	37	c.1825_1826	CCDS164.1	1																																																																																			SPEN	-	NULL	ENSG00000065526		0.327	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	205	0.00	0	TT	NM_015001		16248819	16248820	+1	no_errors	ENST00000375759	ensembl	human	known	69_37n	frame_shift_del	186	20.92	50	DEL	1.000:1.000	-
SUGP1	57794	genome.wustl.edu	37	19	19387471	19387471	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr19:19387471G>A	ENST00000247001.5	-	14	2271	c.1924C>T	c.(1924-1926)Cgg>Tgg	p.R642W		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	642					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.R642W(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						TAGTAAGGCCGTCTGGGATTG	0.517																																						dbGAP											1	Substitution - Missense(1)	breast(1)											121.0	110.0	114.0					19																	19387471		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1924C>T	19.37:g.19387471G>A	ENSP00000247001:p.Arg642Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Missense_Mutation	SNP	pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.R642W	ENST00000247001.5	37	c.1924	CCDS12399.1	19	.	.	.	.	.	.	.	.	.	.	G	8.441	0.850800	0.17034	.	.	ENSG00000105705	ENST00000247001	T	0.40225	1.04	4.77	2.33	0.28932	.	0.000000	0.85682	D	0.000000	T	0.51244	0.1663	L	0.35854	1.095	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.54523	-0.8281	10	0.87932	D	0	.	12.1004	0.53780	0.0:0.0:0.6774:0.3226	.	642	Q8IWZ8	SUGP1_HUMAN	W	642	ENSP00000247001:R642W	ENSP00000247001:R642W	R	-	1	2	SUGP1	19248471	0.996000	0.38824	0.836000	0.33094	0.086000	0.17979	2.564000	0.45931	0.988000	0.38734	0.561000	0.74099	CGG	SUGP1	-	NULL	ENSG00000105705		0.517	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUGP1	HGNC	protein_coding	OTTHUMT00000460128.4	170	0.00	0	G	NM_021164		19387471	19387471	-1	no_errors	ENST00000247001	ensembl	human	known	69_37n	missense	140	17.16	29	SNP	0.689	A
TBX4	9496	genome.wustl.edu	37	17	59560293	59560293	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr17:59560293C>T	ENST00000240335.1	+	8	1099	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000393853.4_Nonsense_Mutation_p.R353*	NM_018488.2	NP_060958.2	P57082	TBX4_HUMAN	T-box 4	352					angiogenesis (GO:0001525)|embryonic limb morphogenesis (GO:0030326)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|morphogenesis of an epithelium (GO:0002009)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R352*(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACCTTGCAAGCGATCCTATCT	0.567																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											57.0	50.0	52.0					17																	59560293		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF188703	CCDS11629.1	17q21-q22	2005-10-11				ENSG00000121075		"""T-boxes"""	11603	protein-coding gene	gene with protein product		601719				10945475	Standard	NM_018488		Approved		uc002izi.3	P57082		ENST00000240335.1:c.1054C>T	17.37:g.59560293C>T	ENSP00000240335:p.Arg352*	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PKU7|B2RMT1|B7ZLV3	Nonsense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R353*	ENST00000240335.1	37	c.1057	CCDS11629.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.467720	0.96257	.	.	ENSG00000121075	ENST00000393853;ENST00000240335	.	.	.	5.51	2.3	0.28687	.	0.000000	0.39407	N	0.001362	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.7403	0.62845	0.5618:0.4382:0.0:0.0	.	.	.	.	X	353;352	.	.	R	+	1	2	TBX4	56915075	1.000000	0.71417	0.964000	0.40570	0.981000	0.71138	1.440000	0.35024	0.233000	0.21120	0.655000	0.94253	CGA	TBX4	-	NULL	ENSG00000121075		0.567	TBX4-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TBX4	HGNC	protein_coding	OTTHUMT00000449649.1	46	0.00	0	C	NM_018488		59560293	59560293	+1	no_errors	ENST00000393853	ensembl	human	known	69_37n	nonsense	48	17.24	10	SNP	1.000	T
TMEM132B	114795	genome.wustl.edu	37	12	125834884	125834884	+	Silent	SNP	T	T	A			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr12:125834884T>A	ENST00000299308.3	+	2	947	c.939T>A	c.(937-939)acT>acA	p.T313T		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	313						integral component of membrane (GO:0016021)		p.T313T(1)		NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACCAGTTCACTCTTAGGTAAG	0.468																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											126.0	119.0	122.0					12																	125834884		1924	4115	6039	-	-	-	SO:0001819	synonymous_variant	0			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.939T>A	12.37:g.125834884T>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Silent	SNP	NULL	p.T313	ENST00000299308.3	37	c.939	CCDS41859.1	12																																																																																			TMEM132B	-	NULL	ENSG00000139364		0.468	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	47	0.00	0	T	NM_052907		125834884	125834884	+1	no_errors	ENST00000299308	ensembl	human	known	69_37n	silent	31	22.50	9	SNP	0.977	A
TMEM247	388946	genome.wustl.edu	37	2	46707884	46707885	+	Missense_Mutation	DNP	AA	AA	GG	rs201742486		TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr2:46707884_46707885AA>GG	ENST00000434431.1	+	2	458_459	c.458_459AA>GG	c.(457-459)cAA>cGG	p.Q153R		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	153						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											CAGCTGCAGCAAGAGGCGGCGC	0.678																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	Exception_encountered	2.37:g.46707884_46707885delinsGG	ENSP00000388684:p.Gln153Arg	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation|Silent	SNP	NULL	p.Q153R|p.Q153	ENST00000434431.1	37	c.458|c.459	CCDS56117.1	2																																																																																			TMEM247	-	NULL	ENSG00000187600		0.678	TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	TMEM247	HGNC	protein_coding	OTTHUMT00000329726.1	32	0.00	0	A	NM_001145051		46707884|46707885	46707884|46707885	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000434431	ensembl	human	known	69_37n	missense|silent	24|25	17.24|16.67	5	SNP	0.238|0.091	G
TTN	7273	genome.wustl.edu	37	2	179456460	179456460	+	Missense_Mutation	SNP	G	G	T			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr2:179456460G>T	ENST00000591111.1	-	253	55387	c.55163C>A	c.(55162-55164)aCt>aAt	p.T18388N	TTN_ENST00000359218.5_Missense_Mutation_p.T11089N|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T17461N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T11156N|TTN_ENST00000589042.1_Missense_Mutation_p.T20029N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T10964N			Q8WZ42	TITIN_HUMAN	titin	18388	Fibronectin type-III 33. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.T17461N(1)|p.T11089N(1)|p.T10964N(1)|p.T11156N(1)|p.T17459N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTGTCACAGTCTTAAATTT	0.428																																						dbGAP											5	Substitution - Missense(5)	breast(5)											142.0	133.0	136.0					2																	179456460		1882	4104	5986	-	-	-	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.55163C>A	2.37:g.179456460G>T	ENSP00000465570:p.Thr18388Asn	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.T17461N	ENST00000591111.1	37	c.52382		2	.	.	.	.	.	.	.	.	.	.	G	14.87	2.663550	0.47572	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67979	0.2951	L	0.41027	1.25	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75484	0.974;0.974;0.974;0.986	T	0.67252	-0.5717	9	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	10964;11089;11156;18388	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	17461;10964;11156;11089;10962	ENSP00000343764:T17461N;ENSP00000434586:T10964N;ENSP00000340554:T11156N;ENSP00000352154:T11089N	ENSP00000340554:T11156N	T	-	2	0	TTN	179164706	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	7.950000	0.87804	2.937000	0.99478	0.650000	0.86243	ACT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	188	0.00	0	G	NM_133378		179456460	179456460	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	174	18.69	40	SNP	1.000	T
ZBTB25	7597	genome.wustl.edu	37	14	64954287	64954287	+	Missense_Mutation	SNP	G	G	A			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr14:64954287G>A	ENST00000608382.1	-	3	853	c.662C>T	c.(661-663)cCc>cTc	p.P221L	ZBTB25_ENST00000394715.1_Missense_Mutation_p.P221L|ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron	NM_006977.2	NP_008908.2	P24278	ZBT25_HUMAN	zinc finger and BTB domain containing 25	221					gene expression (GO:0010467)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P221L(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		CTCTGATGAGGGTGAGGGGTG	0.527																																						dbGAP											1	Substitution - Missense(1)	breast(1)											132.0	149.0	144.0					14																	64954287		2203	4300	6503	-	-	-	SO:0001583	missense	0			X16576	CCDS9765.1	14q23-q24	2013-01-08	2005-05-22	2005-05-22	ENSG00000089775	ENSG00000089775		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	13112	protein-coding gene	gene with protein product		194541	"""zinc finger protein 46 (KUP)"", ""chromosome 14 open reading frame 51"""	ZNF46, C14orf51			Standard	NM_006977		Approved	KUP	uc001xhf.3	P24278	OTTHUMG00000141310	ENST00000608382.1:c.662C>T	14.37:g.64954287G>A	ENSP00000476746:p.Pro221Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KUX6|Q8IYH9	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P221L	ENST00000608382.1	37	c.662	CCDS9765.1	14	.	.	.	.	.	.	.	.	.	.	G	12.90	2.077654	0.36662	.	.	ENSG00000089775	ENST00000261683;ENST00000394715	T;T	0.24908	1.83;1.83	5.97	5.97	0.96955	.	0.401124	0.29280	N	0.012609	T	0.18593	0.0446	N	0.19112	0.55	0.29543	N	0.851926	B	0.18741	0.03	B	0.21151	0.033	T	0.07635	-1.0762	10	0.27082	T	0.32	-5.8217	14.8416	0.70230	0.0:0.0:0.8561:0.1439	.	221	P24278	ZBT25_HUMAN	L	221	ENSP00000261683:P221L;ENSP00000378204:P221L	ENSP00000261683:P221L	P	-	2	0	ZBTB25	64024040	0.999000	0.42202	0.864000	0.33941	0.619000	0.37552	4.791000	0.62460	2.838000	0.97847	0.561000	0.74099	CCC	ZBTB25	-	NULL	ENSG00000089775		0.527	ZBTB25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB25	HGNC	protein_coding	OTTHUMT00000280649.2	241	0.41	1	G	NM_006977		64954287	64954287	-1	no_errors	ENST00000261683	ensembl	human	known	69_37n	missense	134	24.29	43	SNP	0.443	A
ZP4	57829	genome.wustl.edu	37	1	238050144	238050144	+	Missense_Mutation	SNP	C	C	T			TCGA-A2-A0EN-01A-13D-A099-09	TCGA-A2-A0EN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	12362ad7-6866-4e7a-9ec6-8a0a68df8896	ad478c68-a18b-4529-ad7a-86039e6da6b1	g.chr1:238050144C>T	ENST00000366570.4	-	6	924	c.766G>A	c.(766-768)Gaa>Aaa	p.E256K	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	256	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				acrosomal vesicle exocytosis (GO:0060478)|binding of sperm to zona pellucida (GO:0007339)|intracellular signal transduction (GO:0035556)|multicellular organism reproduction (GO:0032504)|negative regulation of binding of sperm to zona pellucida (GO:2000360)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of humoral immune response (GO:0002922)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of T cell proliferation (GO:0042102)|protein kinase A signaling (GO:0010737)|protein kinase C signaling (GO:0070528)|single fertilization (GO:0007338)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	acrosin binding (GO:0032190)|signal transducer activity (GO:0004871)	p.E256K(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGTTCATTTTCATATACTGCT	0.473																																					NSCLC(166;160 2029 11600 18754 19936)	dbGAP											1	Substitution - Missense(1)	breast(1)											182.0	168.0	172.0					1																	238050144		2203	4300	6503	-	-	-	SO:0001583	missense	0			U05781	CCDS1615.1	1q43	2013-01-17			ENSG00000116996	ENSG00000116996		"""Zona pellucida glycoproteins"""	15770	protein-coding gene	gene with protein product		613514				7841460	Standard	NM_021186		Approved	ZPB	uc001hym.3	Q12836	OTTHUMG00000039586	ENST00000366570.4:c.766G>A	1.37:g.238050144C>T	ENSP00000355529:p.Glu256Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAE1	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.E256K	ENST00000366570.4	37	c.766	CCDS1615.1	1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.257779	0.39896	.	.	ENSG00000116996	ENST00000366570	D	0.83335	-1.71	4.96	3.02	0.34903	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.000000	0.85682	D	0.000000	D	0.87985	0.6316	M	0.69823	2.125	0.49798	D	0.999829	D	0.54207	0.965	D	0.63877	0.919	D	0.87543	0.2460	10	0.59425	D	0.04	-22.7727	10.1315	0.42682	0.0:0.8262:0.0:0.1738	.	256	Q12836	ZP4_HUMAN	K	256	ENSP00000355529:E256K	ENSP00000355529:E256K	E	-	1	0	ZP4	236116767	1.000000	0.71417	0.445000	0.26908	0.007000	0.05969	2.481000	0.45215	1.035000	0.39972	0.655000	0.94253	GAA	ZP4	-	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	ENSG00000116996		0.473	ZP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZP4	HGNC	protein_coding	OTTHUMT00000095476.1	147	0.00	0	C			238050144	238050144	-1	no_errors	ENST00000366570	ensembl	human	known	69_37n	missense	242	13.26	37	SNP	0.993	T
